{"comment":"","description":"von Willebrand factor","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":399544,"omia_gene_id":399544,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:399544","source_release":"retrieved-2026-09-12","symbol":"VWF","taxon_id":9615}
{"comment":"","description":"hypocretin (orexin) receptor 2","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":399545,"omia_gene_id":399545,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:399545","source_release":"retrieved-2026-09-12","symbol":"HCRTR2","taxon_id":9615}
{"comment":"","description":"phosphodiesterase 6B, cGMP-specific, rod, beta","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":399653,"omia_gene_id":399653,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:399653","source_release":"retrieved-2026-09-12","symbol":"PDE6B","taxon_id":9615}
{"comment":"","description":"adaptor-related protein complex 3, beta 1 subunit","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403459,"omia_gene_id":403459,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:403459","source_release":"retrieved-2026-09-12","symbol":"AP3B1","taxon_id":9615}
{"comment":"","description":"collagen, type IV, alpha 5","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403466,"omia_gene_id":403466,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:403466","source_release":"retrieved-2026-09-12","symbol":"COL4A5","taxon_id":9615}
{"comment":"","description":"collagen, type VII, alpha 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403467,"omia_gene_id":403467,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:403467","source_release":"retrieved-2026-09-12","symbol":"COL7A1","taxon_id":9615}
{"comment":"","description":"catalase","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403474,"omia_gene_id":403474,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:403474","source_release":"retrieved-2026-09-12","symbol":"CAT","taxon_id":9615}
{"comment":"","description":"tyrosinase-related protein 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403479,"omia_gene_id":403479,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:403479","source_release":"retrieved-2026-09-12","symbol":"TYRP1","taxon_id":9615}
{"comment":"","description":"guanine nucleotide binding protein (G protein), beta polypeptide 3","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403511,"omia_gene_id":403511,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:403511","source_release":"retrieved-2026-09-12","symbol":"GNB3","taxon_id":9615}
{"comment":"","description":"thyroid peroxidase","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403521,"omia_gene_id":403521,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:403521","source_release":"retrieved-2026-09-12","symbol":"TPO","taxon_id":9615}
{"comment":"","description":"cyclic nucleotide gated channel beta 3","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403554,"omia_gene_id":403554,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:403554","source_release":"retrieved-2026-09-12","symbol":"CNGB3","taxon_id":9615}
{"comment":"","description":"superoxide dismutase 1, soluble","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403559,"omia_gene_id":403559,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:403559","source_release":"retrieved-2026-09-12","symbol":"SOD1","taxon_id":9615}
{"comment":"","description":"copper metabolism (Murr1) domain containing 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403590,"omia_gene_id":403590,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:403590","source_release":"retrieved-2026-09-12","symbol":"COMMD1","taxon_id":9615}
{"comment":"","description":"phosphodiesterase 6A, cGMP-specific, rod, alpha","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403620,"omia_gene_id":403620,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:403620","source_release":"retrieved-2026-09-12","symbol":"PDE6A","taxon_id":9615}
{"comment":"","description":"transglutaminase 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403630,"omia_gene_id":403630,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:403630","source_release":"retrieved-2026-09-12","symbol":"TGM1","taxon_id":9615}
{"comment":"Other names for this gene:\nT, brachyury","description":"T-box transcription factor T","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403653,"omia_gene_id":403653,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:403653","source_release":"retrieved-2026-09-12","symbol":"TBXT","taxon_id":9615}
{"comment":"","description":"solute carrier family 3 (amino acid transporter heavy chain), member 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403700,"omia_gene_id":403700,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:403700","source_release":"retrieved-2026-09-12","symbol":"SLC3A1","taxon_id":9615}
{"comment":"","description":"N-sulfoglucosamine sulfohydrolase","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403707,"omia_gene_id":403707,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:403707","source_release":"retrieved-2026-09-12","symbol":"SGSH","taxon_id":9615}
{"comment":"","description":"chloride channel, voltage-sensitive 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403723,"omia_gene_id":403723,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:403723","source_release":"retrieved-2026-09-12","symbol":"CLCN1","taxon_id":9615}
{"comment":"","description":"retinitis pigmentosa GTPase regulator","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403726,"omia_gene_id":403726,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:403726","source_release":"retrieved-2026-09-12","symbol":"RPGR","taxon_id":9615}
{"comment":"","description":"POU class 1 homeobox 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403753,"omia_gene_id":403753,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:403753","source_release":"retrieved-2026-09-12","symbol":"POU1F1","taxon_id":9615}
{"comment":"","description":"integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403770,"omia_gene_id":403770,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:403770","source_release":"retrieved-2026-09-12","symbol":"ITGB2","taxon_id":9615}
{"comment":"","description":"integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403789,"omia_gene_id":403789,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:403789","source_release":"retrieved-2026-09-12","symbol":"ITGA2B","taxon_id":9615}
{"comment":"","description":"retinal pigment epithelium-specific protein 65kDa","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403803,"omia_gene_id":403803,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:403803","source_release":"retrieved-2026-09-12","symbol":"RPE65","taxon_id":9615}
{"comment":"","description":"v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403811,"omia_gene_id":403811,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:403811","source_release":"retrieved-2026-09-12","symbol":"KIT","taxon_id":9615}
{"comment":"","description":"glucuronidase, beta","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403831,"omia_gene_id":403831,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:403831","source_release":"retrieved-2026-09-12","symbol":"GUSB","taxon_id":9615}
{"comment":"","description":"phosphatase and tensin homolog","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403832,"omia_gene_id":403832,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:403832","source_release":"retrieved-2026-09-12","symbol":"PTEN","taxon_id":9615}
{"comment":"","description":"collagen, type IV, alpha 4","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403841,"omia_gene_id":403841,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:403841","source_release":"retrieved-2026-09-12","symbol":"COL4A4","taxon_id":9615}
{"comment":"","description":"phosphofructokinase, muscle","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403849,"omia_gene_id":403849,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:403849","source_release":"retrieved-2026-09-12","symbol":"PFKM","taxon_id":9615}
{"comment":"","description":"interleukin 2 receptor, gamma","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403851,"omia_gene_id":403851,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:403851","source_release":"retrieved-2026-09-12","symbol":"IL2RG","taxon_id":9615}
{"comment":"","description":"tumor protein p53","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403869,"omia_gene_id":403869,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:403869","source_release":"retrieved-2026-09-12","symbol":"TP53","taxon_id":9615}
{"comment":"","description":"galactosidase, beta 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403873,"omia_gene_id":403873,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:403873","source_release":"retrieved-2026-09-12","symbol":"GLB1","taxon_id":9615}
{"comment":"","description":"coagulation factor VIII, procoagulant component","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403875,"omia_gene_id":403875,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:403875","source_release":"retrieved-2026-09-12","symbol":"F8","taxon_id":9615}
{"comment":"","description":"cyclic nucleotide gated channel alpha 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403891,"omia_gene_id":403891,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:403891","source_release":"retrieved-2026-09-12","symbol":"CNGA1","taxon_id":9615}
{"comment":"","description":"S-antigen; retina and pineal gland (arrestin)","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403906,"omia_gene_id":403906,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:403906","source_release":"retrieved-2026-09-12","symbol":"SAG","taxon_id":9615}
{"comment":"","description":"galactosylceramidase","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403916,"omia_gene_id":403916,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:403916","source_release":"retrieved-2026-09-12","symbol":"GALC","taxon_id":9615}
{"comment":"","description":"fucosidase, alpha-L- 1, tissue","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403929,"omia_gene_id":403929,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:403929","source_release":"retrieved-2026-09-12","symbol":"FUCA1","taxon_id":9615}
{"comment":"","description":"peripherin 2 (retinal degeneration, slow)","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403972,"omia_gene_id":403972,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:403972","source_release":"retrieved-2026-09-12","symbol":"PRPH2","taxon_id":9615}
{"comment":"","description":"coagulation factor IX","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":404015,"omia_gene_id":404015,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:404015","source_release":"retrieved-2026-09-12","symbol":"F9","taxon_id":9615}
{"comment":"","description":"pyruvate kinase, liver and RBC","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":406183,"omia_gene_id":406183,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:406183","source_release":"retrieved-2026-09-12","symbol":"PKLR","taxon_id":9615}
{"comment":"","description":"ATPase, Cu++ transporting, alpha polypeptide","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":406185,"omia_gene_id":406185,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:406185","source_release":"retrieved-2026-09-12","symbol":"ATP7A","taxon_id":9615}
{"comment":"","description":"microphthalmia-associated transcription factor","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":415126,"omia_gene_id":415126,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:415126","source_release":"retrieved-2026-09-12","symbol":"MITF","taxon_id":9615}
{"comment":"","description":"purinergic receptor P2Y, G-protein coupled, 12","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":442958,"omia_gene_id":442958,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:442958","source_release":"retrieved-2026-09-12","symbol":"P2RY12","taxon_id":9615}
{"comment":"","description":"protein kinase, DNA-activated, catalytic polypeptide","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":474176,"omia_gene_id":474176,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:474176","source_release":"retrieved-2026-09-12","symbol":"PRKDC","taxon_id":9615}
{"comment":"","description":"palmitoyl-protein thioesterase 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":475316,"omia_gene_id":475316,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:475316","source_release":"retrieved-2026-09-12","symbol":"PPT1","taxon_id":9615}
{"comment":"","description":"cathepsin D","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":483662,"omia_gene_id":483662,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:483662","source_release":"retrieved-2026-09-12","symbol":"CTSD","taxon_id":9615}
{"comment":"","description":"tripeptidyl peptidase I","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":485337,"omia_gene_id":485337,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:485337","source_release":"retrieved-2026-09-12","symbol":"TPP1","taxon_id":9615}
{"comment":"","description":"ceroid-lipofuscinosis, neuronal 5","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":485498,"omia_gene_id":485498,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:485498","source_release":"retrieved-2026-09-12","symbol":"CLN5","taxon_id":9615}
{"comment":"","description":"ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":488558,"omia_gene_id":488558,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:488558","source_release":"retrieved-2026-09-12","symbol":"CLN8","taxon_id":9615}
{"comment":"","description":"melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":489652,"omia_gene_id":489652,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:489652","source_release":"retrieved-2026-09-12","symbol":"MC1R","taxon_id":9615}
{"comment":"","description":"ectodysplasin A","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":491935,"omia_gene_id":491935,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:491935","source_release":"retrieved-2026-09-12","symbol":"EDA","taxon_id":9615}
{"comment":"","description":"agouti signaling protein","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":492296,"omia_gene_id":492296,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:492296","source_release":"retrieved-2026-09-12","symbol":"ASIP","taxon_id":9615}
{"comment":"","description":"rhodopsin","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":493763,"omia_gene_id":493763,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:493763","source_release":"retrieved-2026-09-12","symbol":"RHO","taxon_id":9615}
{"comment":"","description":"protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":574011,"omia_gene_id":574011,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:574011","source_release":"retrieved-2026-09-12","symbol":"HACD1","taxon_id":9615}
{"comment":"","description":"dystrophin","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":606758,"omia_gene_id":606758,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:606758","source_release":"retrieved-2026-09-12","symbol":"DMD","taxon_id":9615}
{"comment":"","description":"amnion associated transmembrane protein","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403434,"omia_gene_id":3429615,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:3429615","source_release":"retrieved-2026-09-12","symbol":"AMN","taxon_id":9615}
{"comment":"","description":"glucose-6-phosphatase, catalytic subunit","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403492,"omia_gene_id":3429665,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:3429665","source_release":"retrieved-2026-09-12","symbol":"G6PC","taxon_id":9615}
{"comment":"","description":"coagulation factor XI","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":475623,"omia_gene_id":3476214,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:3476214","source_release":"retrieved-2026-09-12","symbol":"F11","taxon_id":9615}
{"comment":"","description":"complement component 3","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":476728,"omia_gene_id":3477095,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:3477095","source_release":"retrieved-2026-09-12","symbol":"C3","taxon_id":9615}
{"comment":"","description":"pyruvate dehyrogenase phosphatase catalytic subunit 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":477941,"omia_gene_id":3478038,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:3478038","source_release":"retrieved-2026-09-12","symbol":"PDP1","taxon_id":9615}
{"comment":"","description":"amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":479931,"omia_gene_id":3479617,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:3479617","source_release":"retrieved-2026-09-12","symbol":"AGL","taxon_id":9615}
{"comment":"","description":"laminin, alpha 3","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":480173,"omia_gene_id":3479814,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:3479814","source_release":"retrieved-2026-09-12","symbol":"LAMA3","taxon_id":9615}
{"comment":"","description":"hyaluronan synthase 2","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":482032,"omia_gene_id":3481181,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:3481181","source_release":"retrieved-2026-09-12","symbol":"HAS2","taxon_id":9615}
{"comment":"","description":"forkhead box I3","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":483075,"omia_gene_id":3481910,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:3481910","source_release":"retrieved-2026-09-12","symbol":"FOXI3","taxon_id":9615}
{"comment":"","description":"recombination activating gene 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":483420,"omia_gene_id":3482170,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:3482170","source_release":"retrieved-2026-09-12","symbol":"RAG1","taxon_id":9615}
{"comment":"","description":"fibroblast growth factor 4","gene_type":"pseudo","mapping_status":"resolved","ncbi_gene_id":483680,"omia_gene_id":3482387,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:3482387","source_release":"retrieved-2026-09-12","symbol":"FGF4 retrogene on CFA12","taxon_id":9615}
{"comment":"","description":"glutamate receptor, metabotropic 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":484024,"omia_gene_id":3482627,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:3482627","source_release":"retrieved-2026-09-12","symbol":"GRM1","taxon_id":9615}
{"comment":"","description":"serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":485187,"omia_gene_id":3483476,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:3483476","source_release":"retrieved-2026-09-12","symbol":"SERPINH1","taxon_id":9615}
{"comment":"","description":"anti-Mullerian hormone receptor, type II","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":486506,"omia_gene_id":3484440,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:3484440","source_release":"retrieved-2026-09-12","symbol":"AMHR2","taxon_id":9615}
{"comment":"","description":"choline O-acetyltransferase","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":486775,"omia_gene_id":3484643,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:3484643","source_release":"retrieved-2026-09-12","symbol":"CHAT","taxon_id":9615}
{"comment":"","description":"mitofusin 2","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":487439,"omia_gene_id":3485115,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:3485115","source_release":"retrieved-2026-09-12","symbol":"MFN2","taxon_id":9615}
{"comment":"","description":"coiled-coil domain containing 39","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":488089,"omia_gene_id":3485550,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:3485550","source_release":"retrieved-2026-09-12","symbol":"CCDC39","taxon_id":9615}
{"comment":"","description":"leucine-rich repeat LGI family, member 2","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":488853,"omia_gene_id":3486092,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:3486092","source_release":"retrieved-2026-09-12","symbol":"LGI2","taxon_id":9615}
{"comment":"","description":"dynamin 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":491319,"omia_gene_id":3487940,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:3487940","source_release":"retrieved-2026-09-12","symbol":"DNM1","taxon_id":9615}
{"comment":"","description":"ryanodine receptor 1 (skeletal)","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":606491,"omia_gene_id":3538631,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:3538631","source_release":"retrieved-2026-09-12","symbol":"RYR1","taxon_id":9615}
{"comment":"","description":"melanophilin","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":607077,"omia_gene_id":3539089,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:3539089","source_release":"retrieved-2026-09-12","symbol":"MLPH","taxon_id":9615}
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{"comment":"","description":"nonhomologous end-joining factor 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":610570,"omia_gene_id":3542381,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:3542381","source_release":"retrieved-2026-09-12","symbol":"NHEJ1","taxon_id":9615}
{"comment":"","description":"solute carrier family 6 (neurotransmitter transporter), member 5","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":612095,"omia_gene_id":3543883,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:3543883","source_release":"retrieved-2026-09-12","symbol":"SLC6A5","taxon_id":9615}
{"comment":"","description":"beta-defensin 103","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":100170103,"omia_gene_id":4236237,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:4236237","source_release":"retrieved-2026-09-12","symbol":"CBD103","taxon_id":9615}
{"comment":"","description":"iduronidase, alpha-L-","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":100505382,"omia_gene_id":4479646,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:4479646","source_release":"retrieved-2026-09-12","symbol":"IDUA","taxon_id":9615}
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{"comment":"","description":"arylsulfatase G","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":480460,"omia_gene_id":12940887,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:12940887","source_release":"retrieved-2026-09-12","symbol":"ARSG","taxon_id":9615}
{"comment":"","description":"brevican","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":612102,"omia_gene_id":13003115,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:13003115","source_release":"retrieved-2026-09-12","symbol":"BCAN","taxon_id":9615}
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{"comment":"","description":"premelanosome protein","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":481102,"omia_gene_id":23857013,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:23857013","source_release":"retrieved-2026-09-12","symbol":"PMEL","taxon_id":9615}
{"comment":"","description":"myosin, heavy chain 9, non-muscle","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":481280,"omia_gene_id":23857153,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:23857153","source_release":"retrieved-2026-09-12","symbol":"MYH9","taxon_id":9615}
{"comment":"","description":"R-spondin 2","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":482004,"omia_gene_id":23857650,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:23857650","source_release":"retrieved-2026-09-12","symbol":"RSPO2","taxon_id":9615}
{"comment":"","description":"ATP-binding cassette, sub-family B (MDR/TAP), member 4","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":482284,"omia_gene_id":23857841,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:23857841","source_release":"retrieved-2026-09-12","symbol":"ABCB4","taxon_id":9615}
{"comment":"","description":"fibroblast growth factor 19","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":483681,"omia_gene_id":23858819,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:23858819","source_release":"retrieved-2026-09-12","symbol":"FGF19","taxon_id":9615}
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{"comment":"","description":"keratin 71, type II","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":486522,"omia_gene_id":23860798,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:23860798","source_release":"retrieved-2026-09-12","symbol":"KRT71","taxon_id":9615}
{"comment":"","description":"nephronophthisis 4","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":489625,"omia_gene_id":23862912,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:23862912","source_release":"retrieved-2026-09-12","symbol":"NPHP4","taxon_id":9615}
{"comment":"","description":"heat shock transcription factor 4","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":489766,"omia_gene_id":23863019,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:23863019","source_release":"retrieved-2026-09-12","symbol":"HSF4","taxon_id":9615}
{"comment":"","description":"spectrin, beta, erythrocytic","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":490734,"omia_gene_id":23863703,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:23863703","source_release":"retrieved-2026-09-12","symbol":"SPTB","taxon_id":9615}
{"comment":"","description":"proteasome subunit beta 7","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":100686423,"omia_gene_id":25031640,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:25031640","source_release":"retrieved-2026-09-12","symbol":"PSMB7","taxon_id":9615}
{"comment":"","description":"myostatin","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403433,"omia_gene_id":26535682,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:26535682","source_release":"retrieved-2026-09-12","symbol":"MSTN","taxon_id":9615}
{"comment":"","description":"collagen, type I, alpha 2","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403824,"omia_gene_id":26536015,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:26536015","source_release":"retrieved-2026-09-12","symbol":"COL1A2","taxon_id":9615}
{"comment":"","description":"ATP-binding cassette, sub-family B (MDR/TAP), member 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403879,"omia_gene_id":26536055,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:26536055","source_release":"retrieved-2026-09-12","symbol":"ABCB1","taxon_id":9615}
{"comment":"","description":"NHL repeat containing E3 ubiquitin protein ligase 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":474161,"omia_gene_id":26581065,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:26581065","source_release":"retrieved-2026-09-12","symbol":"NHLRC1","taxon_id":9615}
{"comment":"","description":"kallikrein B, plasma (Fletcher factor) 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":475624,"omia_gene_id":26582224,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:26582224","source_release":"retrieved-2026-09-12","symbol":"KLKB1","taxon_id":9615}
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{"comment":"","description":"serine/threonine kinase 38 like","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":477663,"omia_gene_id":26583787,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:26583787","source_release":"retrieved-2026-09-12","symbol":"STK38L","taxon_id":9615}
{"comment":"","description":"activating transcription factor 2","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":478806,"omia_gene_id":26584660,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:26584660","source_release":"retrieved-2026-09-12","symbol":"ATF2","taxon_id":9615}
{"comment":"","description":"folliculin","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":479529,"omia_gene_id":26585227,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:26585227","source_release":"retrieved-2026-09-12","symbol":"FLCN","taxon_id":9615}
{"comment":"","description":"L-2-hydroxyglutarate dehydrogenase","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":480316,"omia_gene_id":26585840,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:26585840","source_release":"retrieved-2026-09-12","symbol":"L2HGDH","taxon_id":9615}
{"comment":"","description":"N-myc downstream regulated 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":482049,"omia_gene_id":26587068,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:26587068","source_release":"retrieved-2026-09-12","symbol":"NDRG1","taxon_id":9615}
{"comment":"","description":"bestrophin 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":483791,"omia_gene_id":26588296,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:26588296","source_release":"retrieved-2026-09-12","symbol":"BEST1","taxon_id":9615}
{"comment":"","description":"Janus kinase 2","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":484185,"omia_gene_id":26588522,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:26588522","source_release":"retrieved-2026-09-12","symbol":"JAK2","taxon_id":9615}
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{"comment":"","description":"ADAM metallopeptidase with thrombospondin type 1 motif, 17","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":488708,"omia_gene_id":26591637,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:26591637","source_release":"retrieved-2026-09-12","symbol":"ADAMTS17","taxon_id":9615}
{"comment":"","description":"N-acetylglucosaminidase, alpha","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":490965,"omia_gene_id":26593249,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:26593249","source_release":"retrieved-2026-09-12","symbol":"NAGLU","taxon_id":9615}
{"comment":"","description":"keratin 10, type I","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":491006,"omia_gene_id":26593276,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:26593276","source_release":"retrieved-2026-09-12","symbol":"KRT10","taxon_id":9615}
{"comment":"","description":"ADAMTS-like 2","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":491276,"omia_gene_id":26593484,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:26593484","source_release":"retrieved-2026-09-12","symbol":"ADAMTSL2","taxon_id":9615}
{"comment":"","description":"cytochrome P450, family 1, subfamily A, polypeptide 2","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":494010,"omia_gene_id":26595581,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:26595581","source_release":"retrieved-2026-09-12","symbol":"CYP1A2","taxon_id":9615}
{"comment":"","description":"ceroid-lipofuscinosis, neuronal 6, late infantile, variant","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":497068,"omia_gene_id":26598540,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:26598540","source_release":"retrieved-2026-09-12","symbol":"CLN6","taxon_id":9615}
{"comment":"","description":"polycystic kidney disease 1 (autosomal dominant)","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":606755,"omia_gene_id":26644260,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:26644260","source_release":"retrieved-2026-09-12","symbol":"PKD1","taxon_id":9615}
{"comment":"","description":"breakpoint cluster region","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":607482,"omia_gene_id":26644765,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:26644765","source_release":"retrieved-2026-09-12","symbol":"BCR","taxon_id":9615}
{"comment":"","description":"serine peptidase inhibitor, Kazal type 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":608433,"omia_gene_id":26645438,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:26645438","source_release":"retrieved-2026-09-12","symbol":"SPINK1","taxon_id":9615}
{"comment":"","description":"arylsulfatase B","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":610364,"omia_gene_id":26646828,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:26646828","source_release":"retrieved-2026-09-12","symbol":"ARSB","taxon_id":9615}
{"comment":"","description":"myotubularin 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":612385,"omia_gene_id":26648378,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:26648378","source_release":"retrieved-2026-09-12","symbol":"MTM1","taxon_id":9615}
{"comment":"","description":"collagen, type IX, alpha 3","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":612430,"omia_gene_id":26648406,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:26648406","source_release":"retrieved-2026-09-12","symbol":"COL9A3","taxon_id":9615}
{"comment":"","description":"cytochrome b","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":804486,"omia_gene_id":26753425,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:26753425","source_release":"retrieved-2026-09-12","symbol":"CYTB","taxon_id":9615}
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{"comment":"","description":"vacuolar protein sorting 13 homolog B (yeast)","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":481981,"omia_gene_id":27951711,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:27951711","source_release":"retrieved-2026-09-12","symbol":"VPS13B","taxon_id":9615}
{"comment":"","description":"vitamin D (1,25- dihydroxyvitamin D3) receptor","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":486588,"omia_gene_id":27954922,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:27954922","source_release":"retrieved-2026-09-12","symbol":"VDR","taxon_id":9615}
{"comment":"","description":"progressive rod-cone degeneration","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":100049006,"omia_gene_id":28634284,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:28634284","source_release":"retrieved-2026-09-12","symbol":"PRCD","taxon_id":9615}
{"comment":"","description":"ATP-binding cassette, sub-family A (ABC1), member 4","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":444852,"omia_gene_id":44463606,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:44463606","source_release":"retrieved-2026-09-12","symbol":"ABCA4","taxon_id":9615}
{"comment":"","description":"fibroblast growth factor 5","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":608459,"omia_gene_id":99327621,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:99327621","source_release":"retrieved-2026-09-12","symbol":"FGF5","taxon_id":9615}
{"comment":"","description":"patatin-like phospholipase domain containing 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":481763,"omia_gene_id":180373481,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:180373481","source_release":"retrieved-2026-09-12","symbol":"PNPLA1","taxon_id":9615}
{"comment":"","description":"family with sequence similarity 83, member H","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":482081,"omia_gene_id":180373696,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:180373696","source_release":"retrieved-2026-09-12","symbol":"FAM83H","taxon_id":9615}
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{"comment":"Other names for this gene:\nC17H2orf71","description":"photoreceptor cilium actin regulator","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":100688240,"omia_gene_id":287044800,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:287044800","source_release":"retrieved-2026-09-12","symbol":"PCARE","taxon_id":9615}
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{"comment":"","description":"tyrosinase","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403405,"omia_gene_id":388198949,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388198949","source_release":"retrieved-2026-09-12","symbol":"TYR","taxon_id":9615}
{"comment":"","description":"KIT ligand","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403507,"omia_gene_id":388199034,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388199034","source_release":"retrieved-2026-09-12","symbol":"KITLG","taxon_id":9615}
{"comment":"","description":"alkaline phosphatase, liver/bone/kidney","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403548,"omia_gene_id":388199066,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388199066","source_release":"retrieved-2026-09-12","symbol":"ALPL","taxon_id":9615}
{"comment":"","description":"melanin-concentrating hormone receptor 2","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403562,"omia_gene_id":388199077,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388199077","source_release":"retrieved-2026-09-12","symbol":"MCHR2","taxon_id":9615}
{"comment":"","description":"collagen, type VI, alpha 3","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403582,"omia_gene_id":388199093,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388199093","source_release":"retrieved-2026-09-12","symbol":"COL6A3","taxon_id":9615}
{"comment":"","description":"plasminogen","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403602,"omia_gene_id":388199107,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388199107","source_release":"retrieved-2026-09-12","symbol":"PLG","taxon_id":9615}
{"comment":"","description":"collagen, type I, alpha 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403651,"omia_gene_id":388199150,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388199150","source_release":"retrieved-2026-09-12","symbol":"COL1A1","taxon_id":9615}
{"comment":"","description":"proopiomelanocortin","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403659,"omia_gene_id":388199157,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388199157","source_release":"retrieved-2026-09-12","symbol":"POMC","taxon_id":9615}
{"comment":"","description":"collagen, type VI, alpha 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403668,"omia_gene_id":388199166,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388199166","source_release":"retrieved-2026-09-12","symbol":"COL6A1","taxon_id":9615}
{"comment":"","description":"Harvey rat sarcoma viral oncogene homolog","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403735,"omia_gene_id":388199224,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388199224","source_release":"retrieved-2026-09-12","symbol":"HRAS","taxon_id":9615}
{"comment":"","description":"cubilin (intrinsic factor-cobalamin receptor)","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403767,"omia_gene_id":388199252,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388199252","source_release":"retrieved-2026-09-12","symbol":"CUBN","taxon_id":9615}
{"comment":"","description":"growth hormone","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403795,"omia_gene_id":388199274,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388199274","source_release":"retrieved-2026-09-12","symbol":"GH1","taxon_id":9615}
{"comment":"","description":"guanylate cyclase 2D, membrane (retina-specific)","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403863,"omia_gene_id":388199326,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388199326","source_release":"retrieved-2026-09-12","symbol":"GUCY2D","taxon_id":9615}
{"comment":"","description":"ATPase, Ca++ transporting, cardiac muscle, slow twitch 2","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403878,"omia_gene_id":388199337,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388199337","source_release":"retrieved-2026-09-12","symbol":"ATP2A2","taxon_id":9615}
{"comment":"","description":"GNAS complex locus","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403943,"omia_gene_id":388199395,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388199395","source_release":"retrieved-2026-09-12","symbol":"GNAS","taxon_id":9615}
{"comment":"","description":"phospholamban","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":414755,"omia_gene_id":388207564,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388207564","source_release":"retrieved-2026-09-12","symbol":"PLN","taxon_id":9615}
{"comment":"","description":"laminin, beta 3","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":442953,"omia_gene_id":388221477,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388221477","source_release":"retrieved-2026-09-12","symbol":"LAMB3","taxon_id":9615}
{"comment":"","description":"erythrocyte membrane protein band 4.1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":442955,"omia_gene_id":388221479,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388221479","source_release":"retrieved-2026-09-12","symbol":"EPB41","taxon_id":9615}
{"comment":"","description":"keratin 1, type II","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":444857,"omia_gene_id":388223343,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388223343","source_release":"retrieved-2026-09-12","symbol":"KRT1","taxon_id":9615}
{"comment":"","description":"SH3 and multiple ankyrin repeat domains 3","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":474456,"omia_gene_id":388243383,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388243383","source_release":"retrieved-2026-09-12","symbol":"SHANK3","taxon_id":9615}
{"comment":"","description":"cytochrome b5 reductase 3","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":474479,"omia_gene_id":388243402,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388243402","source_release":"retrieved-2026-09-12","symbol":"CYB5R3","taxon_id":9615}
{"comment":"","description":"like-glycosyltransferase","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":474521,"omia_gene_id":388243435,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388243435","source_release":"retrieved-2026-09-12","symbol":"LARGE","taxon_id":9615}
{"comment":"","description":"sorting nexin 14","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":474985,"omia_gene_id":388243793,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388243793","source_release":"retrieved-2026-09-12","symbol":"SNX14","taxon_id":9615}
{"comment":"","description":"HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":475010,"omia_gene_id":388243815,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388243815","source_release":"retrieved-2026-09-12","symbol":"HACE1","taxon_id":9615}
{"comment":"","description":"retinitis pigmentosa GTPase regulator interacting protein 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":475400,"omia_gene_id":388244116,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388244116","source_release":"retrieved-2026-09-12","symbol":"RPGRIP1","taxon_id":9615}
{"comment":"","description":"fibrinogen alpha chain","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":475473,"omia_gene_id":388244177,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388244177","source_release":"retrieved-2026-09-12","symbol":"FGA","taxon_id":9615}
{"comment":"","description":"folliculin interacting protein 2","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":475482,"omia_gene_id":388244185,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388244185","source_release":"retrieved-2026-09-12","symbol":"FNIP2","taxon_id":9615}
{"comment":"","description":"B-Raf proto-oncogene, serine/threonine kinase","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":475526,"omia_gene_id":388244214,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388244214","source_release":"retrieved-2026-09-12","symbol":"BRAF","taxon_id":9615}
{"comment":"","description":"patatin-like phospholipase domain containing 8","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":475880,"omia_gene_id":388244480,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388244480","source_release":"retrieved-2026-09-12","symbol":"PNPLA8","taxon_id":9615}
{"comment":"","description":"exostosin glycosyltransferase 2","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":475989,"omia_gene_id":388244566,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388244566","source_release":"retrieved-2026-09-12","symbol":"EXT2","taxon_id":9615}
{"comment":"","description":"major facilitator superfamily domain containing 8","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":476086,"omia_gene_id":388244653,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388244653","source_release":"retrieved-2026-09-12","symbol":"MFSD8","taxon_id":9615}
{"comment":"","description":"RAB3 GTPase activating protein subunit 1 (catalytic)","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":476127,"omia_gene_id":388244679,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388244679","source_release":"retrieved-2026-09-12","symbol":"RAB3GAP1","taxon_id":9615}
{"comment":"","description":"nebulin","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":476149,"omia_gene_id":388244698,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388244698","source_release":"retrieved-2026-09-12","symbol":"NEB","taxon_id":9615}
{"comment":"","description":"phosphatidylinositol glycan anchor biosynthesis, class N","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":476182,"omia_gene_id":388244722,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388244722","source_release":"retrieved-2026-09-12","symbol":"PIGN","taxon_id":9615}
{"comment":"","description":"serine active site containing 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":476255,"omia_gene_id":388244778,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388244778","source_release":"retrieved-2026-09-12","symbol":"SERAC1","taxon_id":9615}
{"comment":"","description":"SPARC related modular calcium binding 2","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":476270,"omia_gene_id":388244786,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388244786","source_release":"retrieved-2026-09-12","symbol":"SMOC2","taxon_id":9615}
{"comment":"","description":"very low density lipoprotein receptor","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":476336,"omia_gene_id":388244833,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388244833","source_release":"retrieved-2026-09-12","symbol":"VLDLR","taxon_id":9615}
{"comment":"","description":"apolipoprotein E","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":476438,"omia_gene_id":388244913,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388244913","source_release":"retrieved-2026-09-12","symbol":"APOE","taxon_id":9615}
{"comment":"","description":"intraflagellar transport 122","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":476528,"omia_gene_id":388244977,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388244977","source_release":"retrieved-2026-09-12","symbol":"IFT122","taxon_id":9615}
{"comment":"","description":"inositol 1,4,5-trisphosphate receptor, type 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":476548,"omia_gene_id":388244992,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388244992","source_release":"retrieved-2026-09-12","symbol":"ITPR1","taxon_id":9615}
{"comment":"","description":"FYVE and coiled-coil domain containing 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":476649,"omia_gene_id":388245073,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388245073","source_release":"retrieved-2026-09-12","symbol":"FYCO1","taxon_id":9615}
{"comment":"Other names for this gene:\nC20H19orf70","description":"mitochondrial contact site and cristae organizing system subunit 13","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":476739,"omia_gene_id":388245149,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388245149","source_release":"retrieved-2026-09-12","symbol":"MICOS13","taxon_id":9615}
{"comment":"","description":"SET binding factor 2","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":476849,"omia_gene_id":388245237,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388245237","source_release":"retrieved-2026-09-12","symbol":"SBF2","taxon_id":9615}
{"comment":"","description":"ATPase, Cu++ transporting, beta polypeptide","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":476903,"omia_gene_id":388245279,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388245279","source_release":"retrieved-2026-09-12","symbol":"ATP7B","taxon_id":9615}
{"comment":"","description":"sacsin molecular chaperone","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":477339,"omia_gene_id":388245606,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388245606","source_release":"retrieved-2026-09-12","symbol":"SACS","taxon_id":9615}
{"comment":"","description":"mitochondrial fission factor","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":477395,"omia_gene_id":388245644,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388245644","source_release":"retrieved-2026-09-12","symbol":"MFF","taxon_id":9615}
{"comment":"","description":"sodium channel, voltage gated, type VIII alpha subunit","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":477604,"omia_gene_id":388245796,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388245796","source_release":"retrieved-2026-09-12","symbol":"SCN8A","taxon_id":9615}
{"comment":"","description":"retinol binding protein 4, plasma","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":477775,"omia_gene_id":388245927,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388245927","source_release":"retrieved-2026-09-12","symbol":"RBP4","taxon_id":9615}
{"comment":"","description":"acyl-CoA synthetase long-chain family member 5","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":477820,"omia_gene_id":388245967,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388245967","source_release":"retrieved-2026-09-12","symbol":"ACSL5","taxon_id":9615}
{"comment":"","description":"suppressor of variegation 3-9 homolog 2 (Drosophila)","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":477995,"omia_gene_id":388246091,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388246091","source_release":"retrieved-2026-09-12","symbol":"SUV39H2","taxon_id":9615}
{"comment":"","description":"pitrilysin metallopeptidase 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":478018,"omia_gene_id":388246109,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388246109","source_release":"retrieved-2026-09-12","symbol":"PITRM1","taxon_id":9615}
{"comment":"","description":"nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":478047,"omia_gene_id":388246130,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388246130","source_release":"retrieved-2026-09-12","symbol":"NR3C1","taxon_id":9615}
{"comment":"","description":"Bardet-Biedl syndrome 2","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":478121,"omia_gene_id":388246182,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388246182","source_release":"retrieved-2026-09-12","symbol":"BBS2","taxon_id":9615}
{"comment":"","description":"solute carrier family 12 (potassium/chloride transporter), member 6","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":478239,"omia_gene_id":388246272,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388246272","source_release":"retrieved-2026-09-12","symbol":"SLC12A6","taxon_id":9615}
{"comment":"","description":"myosin VA","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":478312,"omia_gene_id":388246333,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388246333","source_release":"retrieved-2026-09-12","symbol":"MYO5A","taxon_id":9615}
{"comment":"","description":"mitogen-activated protein kinase kinase 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":478347,"omia_gene_id":388246362,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388246362","source_release":"retrieved-2026-09-12","symbol":"MAP2K1","taxon_id":9615}
{"comment":"","description":"IQ motif containing B1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":478582,"omia_gene_id":388246541,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388246541","source_release":"retrieved-2026-09-12","symbol":"IQCB1","taxon_id":9615}
{"comment":"","description":"phosphate cytidylyltransferase 1, choline, alpha","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":478600,"omia_gene_id":388246555,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388246555","source_release":"retrieved-2026-09-12","symbol":"PCYT1A","taxon_id":9615}
{"comment":"","description":"prolyl 3-hydroxylase 2","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":478674,"omia_gene_id":388246610,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388246610","source_release":"retrieved-2026-09-12","symbol":"P3H2","taxon_id":9615}
{"comment":"","description":"solute carrier family 25 (aspartate/glutamate carrier), member 12","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":478798,"omia_gene_id":388246702,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388246702","source_release":"retrieved-2026-09-12","symbol":"SLC25A12","taxon_id":9615}
{"comment":"","description":"collagen, type V, alpha 2","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":478836,"omia_gene_id":388246732,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388246732","source_release":"retrieved-2026-09-12","symbol":"COL5A2","taxon_id":9615}
{"comment":"","description":"Kruppel-like factor 7 (ubiquitous)","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":478885,"omia_gene_id":388246772,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388246772","source_release":"retrieved-2026-09-12","symbol":"KLF7","taxon_id":9615}
{"comment":"","description":"serine/threonine kinase 36","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":478913,"omia_gene_id":388246795,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388246795","source_release":"retrieved-2026-09-12","symbol":"STK36","taxon_id":9615}
{"comment":"","description":"MIA SH3 domain ER export factor 3","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":100855882,"omia_gene_id":388246862,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388246862","source_release":"retrieved-2026-09-12","symbol":"MIA3","taxon_id":9615}
{"comment":"","description":"FANCD2/FANCI-associated nuclease 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":479017,"omia_gene_id":388246875,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388246875","source_release":"retrieved-2026-09-12","symbol":"FAN1","taxon_id":9615}
{"comment":"","description":"Kv channel interacting protein 4","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":479129,"omia_gene_id":388246955,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388246955","source_release":"retrieved-2026-09-12","symbol":"KCNIP4","taxon_id":9615}
{"comment":"","description":"adenomatous polyposis coli","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":479139,"omia_gene_id":388246964,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388246964","source_release":"retrieved-2026-09-12","symbol":"APC","taxon_id":9615}
{"comment":"","description":"RAB24, member RAS oncogene family","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":479277,"omia_gene_id":388247079,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388247079","source_release":"retrieved-2026-09-12","symbol":"RAB24","taxon_id":9615}
{"comment":"","description":"selenoprotein P, plasma, 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":479346,"omia_gene_id":388247132,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388247132","source_release":"retrieved-2026-09-12","symbol":"SEPP1","taxon_id":9615}
{"comment":"","description":"family with sequence similarity 134, member B","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":479382,"omia_gene_id":388247158,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388247158","source_release":"retrieved-2026-09-12","symbol":"FAM134B","taxon_id":9615}
{"comment":"","description":"cholinergic receptor, nicotinic, epsilon (muscle)","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":479471,"omia_gene_id":388247226,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388247226","source_release":"retrieved-2026-09-12","symbol":"CHRNE","taxon_id":9615}
{"comment":"","description":"parkinson protein 7","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":479595,"omia_gene_id":388247328,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388247328","source_release":"retrieved-2026-09-12","symbol":"PARK7","taxon_id":9615}
{"comment":"","description":"lamin A/C","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":480124,"omia_gene_id":388247742,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388247742","source_release":"retrieved-2026-09-12","symbol":"LMNA","taxon_id":9615}
{"comment":"","description":"tetratricopeptide repeat domain 8","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":480413,"omia_gene_id":388247952,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388247952","source_release":"retrieved-2026-09-12","symbol":"TTC8","taxon_id":9615}
{"comment":"","description":"glial fibrillary acidic protein","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":480495,"omia_gene_id":388248020,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388248020","source_release":"retrieved-2026-09-12","symbol":"GFAP","taxon_id":9615}
{"comment":"","description":"collagen, type V, alpha 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":480684,"omia_gene_id":388248174,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388248174","source_release":"retrieved-2026-09-12","symbol":"COL5A1","taxon_id":9615}
{"comment":"","description":"NAD(P) dependent steroid dehydrogenase-like","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":481079,"omia_gene_id":388248422,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388248422","source_release":"retrieved-2026-09-12","symbol":"NSDHL","taxon_id":9615}
{"comment":"","description":"short chain dehydrogenase/reductase family 9C, member 7","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":481119,"omia_gene_id":388248456,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388248456","source_release":"retrieved-2026-09-12","symbol":"SDR9C7","taxon_id":9615}
{"comment":"","description":"cytochrome P450, family 27, subfamily B, polypeptide 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":481133,"omia_gene_id":388248469,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388248469","source_release":"retrieved-2026-09-12","symbol":"CYP27B1","taxon_id":9615}
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{"comment":"","description":"cyclic nucleotide gated channel alpha 3","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":481341,"omia_gene_id":388248616,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388248616","source_release":"retrieved-2026-09-12","symbol":"CNGA3","taxon_id":9615}
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{"comment":"","description":"ATPase, Na+/K+ transporting, beta 2 polypeptide","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":489479,"omia_gene_id":388254176,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388254176","source_release":"retrieved-2026-09-12","symbol":"ATP1B2","taxon_id":9615}
{"comment":"Other names for this gene:\nCHST6","description":"carbohydrate sulfotransferase 6","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":489707,"omia_gene_id":388254349,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388254349","source_release":"retrieved-2026-09-12","symbol":"LOC489707","taxon_id":9615}
{"comment":"","description":"acyl-CoA dehydrogenase, C-4 to C-12 straight chain","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":490207,"omia_gene_id":388254719,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388254719","source_release":"retrieved-2026-09-12","symbol":"ACADM","taxon_id":9615}
{"comment":"","description":"tenascin R","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":490334,"omia_gene_id":388254795,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388254795","source_release":"retrieved-2026-09-12","symbol":"TNR","taxon_id":9615}
{"comment":"","description":"lipoxygenase homology domains 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":490467,"omia_gene_id":388254896,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388254896","source_release":"retrieved-2026-09-12","symbol":"LOXHD1","taxon_id":9615}
{"comment":"","description":"molybdenum cofactor sulfurase","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":490482,"omia_gene_id":388254904,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388254904","source_release":"retrieved-2026-09-12","symbol":"MOCOS","taxon_id":9615}
{"comment":"","description":"SIX homeobox 6","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":490718,"omia_gene_id":388255052,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388255052","source_release":"retrieved-2026-09-12","symbol":"SIX6","taxon_id":9615}
{"comment":"","description":"tectonin beta-propeller repeat containing 2","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":490864,"omia_gene_id":388255150,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388255150","source_release":"retrieved-2026-09-12","symbol":"TECPR2","taxon_id":9615}
{"comment":"","description":"contactin associated protein 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":490960,"omia_gene_id":388255222,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388255222","source_release":"retrieved-2026-09-12","symbol":"CNTNAP1","taxon_id":9615}
{"comment":"","description":"keratin, type I cytoskeletal 16","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":490978,"omia_gene_id":388255238,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388255238","source_release":"retrieved-2026-09-12","symbol":"KRT16","taxon_id":9615}
{"comment":"Other names for this gene:\nTMEM49","description":"vacuole membrane protein 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":119881609,"omia_gene_id":388255333,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388255333","source_release":"retrieved-2026-09-12","symbol":"VMP1","taxon_id":9615}
{"comment":"","description":"ABL proto-oncogene 1, non-receptor tyrosine kinase","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":491292,"omia_gene_id":388255470,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388255470","source_release":"retrieved-2026-09-12","symbol":"ABL1","taxon_id":9615}
{"comment":"","description":"solute carrier family 27 (fatty acid transporter), member 4","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":491317,"omia_gene_id":388255492,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388255492","source_release":"retrieved-2026-09-12","symbol":"SLC27A4","taxon_id":9615}
{"comment":"","description":"family with sequence similarity 20, member C","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":491596,"omia_gene_id":388255609,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388255609","source_release":"retrieved-2026-09-12","symbol":"FAM20C","taxon_id":9615}
{"comment":"","description":"myotubularin related protein 2","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":606918,"omia_gene_id":388302814,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388302814","source_release":"retrieved-2026-09-12","symbol":"MTMR2","taxon_id":9615}
{"comment":"","description":"hydroxysteroid (17-beta) dehydrogenase 3","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":606956,"omia_gene_id":388302837,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388302837","source_release":"retrieved-2026-09-12","symbol":"HSD17B3","taxon_id":9615}
{"comment":"","description":"plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":607140,"omia_gene_id":388302952,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388302952","source_release":"retrieved-2026-09-12","symbol":"PKP1","taxon_id":9615}
{"comment":"","description":"lysosomal-associated membrane protein 3","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":607186,"omia_gene_id":388302982,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388302982","source_release":"retrieved-2026-09-12","symbol":"LAMP3","taxon_id":9615}
{"comment":"","description":"inositol polyphosphate-5-phosphatase E","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":607443,"omia_gene_id":388303165,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388303165","source_release":"retrieved-2026-09-12","symbol":"INPP5E","taxon_id":9615}
{"comment":"","description":"G protein-coupled receptor 22","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":607459,"omia_gene_id":388303175,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388303175","source_release":"retrieved-2026-09-12","symbol":"GPR22","taxon_id":9615}
{"comment":"","description":"LIM homeobox 3","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":607584,"omia_gene_id":388303261,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388303261","source_release":"retrieved-2026-09-12","symbol":"LHX3","taxon_id":9615}
{"comment":"","description":"muskelin 1, intracellular mediator containing kelch motifs","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":607643,"omia_gene_id":388303299,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388303299","source_release":"retrieved-2026-09-12","symbol":"MKLN1","taxon_id":9615}
{"comment":"","description":"2',3'-cyclic nucleotide 3' phosphodiesterase","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":607694,"omia_gene_id":388303336,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388303336","source_release":"retrieved-2026-09-12","symbol":"CNP","taxon_id":9615}
{"comment":"","description":"integrin, alpha 10","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":608287,"omia_gene_id":388303744,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388303744","source_release":"retrieved-2026-09-12","symbol":"ITGA10","taxon_id":9615}
{"comment":"","description":"methionine sulfoxide reductase B3","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":608386,"omia_gene_id":388303816,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388303816","source_release":"retrieved-2026-09-12","symbol":"MSRB3","taxon_id":9615}
{"comment":"","description":"interphotoreceptor matrix proteoglycan 2","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":608491,"omia_gene_id":388303885,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388303885","source_release":"retrieved-2026-09-12","symbol":"IMPG2","taxon_id":9615}
{"comment":"","description":"2-hydroxyacyl-CoA lyase 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":608697,"omia_gene_id":388304030,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388304030","source_release":"retrieved-2026-09-12","symbol":"LOC608697","taxon_id":9615}
{"comment":"","description":"sonic hedgehog","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":608860,"omia_gene_id":388304145,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388304145","source_release":"retrieved-2026-09-12","symbol":"SHH","taxon_id":9615}
{"comment":"","description":"MDM2 binding protein","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":609080,"omia_gene_id":388304307,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388304307","source_release":"retrieved-2026-09-12","symbol":"MTBP","taxon_id":9615}
{"comment":"","description":"sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":609265,"omia_gene_id":388304440,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388304440","source_release":"retrieved-2026-09-12","symbol":"SGCA","taxon_id":9615}
{"comment":"","description":"Rho guanine nucleotide exchange factor (GEF) 10","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":609511,"omia_gene_id":388304604,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388304604","source_release":"retrieved-2026-09-12","symbol":"ARHGEF10","taxon_id":9615}
{"comment":"","description":"Rap guanine nucleotide exchange factor (GEF) 6","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":609521,"omia_gene_id":388304610,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388304610","source_release":"retrieved-2026-09-12","symbol":"RAPGEF6","taxon_id":9615}
{"comment":"","description":"glycoprotein IX (platelet)","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":609630,"omia_gene_id":388304690,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388304690","source_release":"retrieved-2026-09-12","symbol":"GP9","taxon_id":9615}
{"comment":"","description":"NK2 homeobox 8","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":609776,"omia_gene_id":388304790,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388304790","source_release":"retrieved-2026-09-12","symbol":"NKX2-8","taxon_id":9615}
{"comment":"","description":"ALX homeobox 4","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":609979,"omia_gene_id":388304937,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388304937","source_release":"retrieved-2026-09-12","symbol":"ALX4","taxon_id":9615}
{"comment":"","description":"myeloperoxidase","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":609986,"omia_gene_id":388304943,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388304943","source_release":"retrieved-2026-09-12","symbol":"MPO","taxon_id":9615}
{"comment":"","description":"NME/NM23 family member 5","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":100855746,"omia_gene_id":388305257,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388305257","source_release":"retrieved-2026-09-12","symbol":"NME5","taxon_id":9615}
{"comment":"","description":"leucine-rich repeat, immunoglobulin-like and transmembrane domains 3","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":610534,"omia_gene_id":388305346,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388305346","source_release":"retrieved-2026-09-12","symbol":"LRIT3","taxon_id":9615}
{"comment":"","description":"cyclic nucleotide gated channel beta 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":611173,"omia_gene_id":388305794,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388305794","source_release":"retrieved-2026-09-12","symbol":"CNGB1","taxon_id":9615}
{"comment":"","description":"serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":611266,"omia_gene_id":388305872,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388305872","source_release":"retrieved-2026-09-12","symbol":"SERPINF2","taxon_id":9615}
{"comment":"","description":"ADAM metallopeptidase with thrombospondin type 1 motif, 10","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":611267,"omia_gene_id":388305873,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388305873","source_release":"retrieved-2026-09-12","symbol":"ADAMTS10","taxon_id":9615}
{"comment":"","description":"resistin","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":611540,"omia_gene_id":388306078,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388306078","source_release":"retrieved-2026-09-12","symbol":"RETN","taxon_id":9615}
{"comment":"","description":"fibroblast growth factor 3","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":611707,"omia_gene_id":388306198,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388306198","source_release":"retrieved-2026-09-12","symbol":"FGF3","taxon_id":9615}
{"comment":"","description":"oral cancer overexpressed 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":611721,"omia_gene_id":388306207,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388306207","source_release":"retrieved-2026-09-12","symbol":"ORAOV1","taxon_id":9615}
{"comment":"","description":"sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":612079,"omia_gene_id":388306478,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388306478","source_release":"retrieved-2026-09-12","symbol":"SGCD","taxon_id":9615}
{"comment":"","description":"RAS guanyl releasing protein 2 (calcium and DAG-regulated)","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":612101,"omia_gene_id":388306487,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388306487","source_release":"retrieved-2026-09-12","symbol":"RASGRP2","taxon_id":9615}
{"comment":"","description":"Norrie disease (pseudoglioma)","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":612440,"omia_gene_id":388306737,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388306737","source_release":"retrieved-2026-09-12","symbol":"NDP","taxon_id":9615}
{"comment":"","description":"hes family bHLH transcription factor 7","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":612802,"omia_gene_id":388306975,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388306975","source_release":"retrieved-2026-09-12","symbol":"HES7","taxon_id":9615}
{"comment":"","description":"limb development membrane protein 1-like","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":612809,"omia_gene_id":388306979,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388306979","source_release":"retrieved-2026-09-12","symbol":"LMBR1L","taxon_id":9615}
{"comment":"","description":"Ral GTPase activating protein, alpha subunit 1 (catalytic)","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":612841,"omia_gene_id":388307002,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388307002","source_release":"retrieved-2026-09-12","symbol":"RALGAPA1","taxon_id":9615}
{"comment":"","description":"ligand dependent nuclear receptor corepressor-like","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":613008,"omia_gene_id":388307121,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:388307121","source_release":"retrieved-2026-09-12","symbol":"LCORL","taxon_id":9615}
{"comment":"","description":"high mobility group AT-hook 2","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":100271859,"omia_gene_id":389077191,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:389077191","source_release":"retrieved-2026-09-12","symbol":"HMGA2","taxon_id":9615}
{"comment":"","description":"growth differentiation factor 9","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":100313495,"omia_gene_id":389090111,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:389090111","source_release":"retrieved-2026-09-12","symbol":"GDF9","taxon_id":9615}
{"comment":"","description":"family with sequence similarity 83, member G","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":100682814,"omia_gene_id":389413015,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:389413015","source_release":"retrieved-2026-09-12","symbol":"FAM83G","taxon_id":9615}
{"comment":"","description":"tenascin XB","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":100682877,"omia_gene_id":389413072,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:389413072","source_release":"retrieved-2026-09-12","symbol":"TNXB","taxon_id":9615}
{"comment":"","description":"gap junction protein, alpha 9, 59kDa","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":100684742,"omia_gene_id":389414795,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:389414795","source_release":"retrieved-2026-09-12","symbol":"GJA9","taxon_id":9615}
{"comment":"","description":"scavenger receptor class F, member 2","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":100684936,"omia_gene_id":389414972,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:389414972","source_release":"retrieved-2026-09-12","symbol":"SCARF2","taxon_id":9615}
{"comment":"","description":"human immunodeficiency virus type I enhancer binding protein 3","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":100684978,"omia_gene_id":389415011,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:389415011","source_release":"retrieved-2026-09-12","symbol":"HIVEP3","taxon_id":9615}
{"comment":"","description":"cadherin-related 23","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":100684999,"omia_gene_id":389415032,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:389415032","source_release":"retrieved-2026-09-12","symbol":"CDH23","taxon_id":9615}
{"comment":"","description":"N-acyl phosphatidylethanolamine phospholipase D","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":100685330,"omia_gene_id":389415332,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:389415332","source_release":"retrieved-2026-09-12","symbol":"NAPEPLD","taxon_id":9615}
{"comment":"","description":"SP110 nuclear body protein","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":100686387,"omia_gene_id":389416327,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:389416327","source_release":"retrieved-2026-09-12","symbol":"SP110","taxon_id":9615}
{"comment":"","description":"ATPase type 13A2","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":100686975,"omia_gene_id":389416873,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:389416873","source_release":"retrieved-2026-09-12","symbol":"ATP13A2","taxon_id":9615}
{"comment":"","description":"keratin 5, type II","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":100687760,"omia_gene_id":389417605,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:389417605","source_release":"retrieved-2026-09-12","symbol":"KRT5","taxon_id":9615}
{"comment":"","description":"alanine-glyoxylate aminotransferase","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":100855679,"omia_gene_id":389508874,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:389508874","source_release":"retrieved-2026-09-12","symbol":"AGXT","taxon_id":9615}
{"comment":"","description":"EPS8-like 2","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":100856027,"omia_gene_id":389509222,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:389509222","source_release":"retrieved-2026-09-12","symbol":"EPS8L2","taxon_id":9615}
{"comment":"","description":"","gene_type":"protein-coding","mapping_status":"unresolved","ncbi_gene_id":null,"omia_gene_id":398298717,"rank_eligible":false,"source_id":"omia","source_record_id":"OMIA:Gene:398298717","source_release":"retrieved-2026-09-12","symbol":"FGF4 retrogene in CFA12","taxon_id":9615}
{"comment":"","description":"","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":119863935,"omia_gene_id":398298769,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398298769","source_release":"retrieved-2026-09-12","symbol":"NR5A1","taxon_id":9615}
{"comment":"","description":"","gene_type":"ncRNA","mapping_status":"unresolved","ncbi_gene_id":null,"omia_gene_id":398298776,"rank_eligible":false,"source_id":"omia","source_record_id":"OMIA:Gene:398298776","source_release":"retrieved-2026-09-12","symbol":"IGF1-AS (LOC111090066)","taxon_id":9615}
{"comment":"","description":"","gene_type":"protein-coding","mapping_status":"unresolved","ncbi_gene_id":null,"omia_gene_id":398298783,"rank_eligible":false,"source_id":"omia","source_record_id":"OMIA:Gene:398298783","source_release":"retrieved-2026-09-12","symbol":"FGF4 retrogene on CFA12","taxon_id":9615}
{"comment":"","description":"","gene_type":"pseudo","mapping_status":"unresolved","ncbi_gene_id":null,"omia_gene_id":398298784,"rank_eligible":false,"source_id":"omia","source_record_id":"OMIA:Gene:398298784","source_release":"retrieved-2026-09-12","symbol":"FGF4 retrogene CFA18","taxon_id":9615}
{"comment":"","description":"","gene_type":"pseudo","mapping_status":"unresolved","ncbi_gene_id":null,"omia_gene_id":398298785,"rank_eligible":false,"source_id":"omia","source_record_id":"OMIA:Gene:398298785","source_release":"retrieved-2026-09-12","symbol":"FGF4 retrogene CFA18","taxon_id":9615}
{"comment":"","description":"TRANSFER RNA, MITOCHONDRIAL, TYROSINE","gene_type":"tRNA","mapping_status":"unresolved","ncbi_gene_id":null,"omia_gene_id":398298798,"rank_eligible":false,"source_id":"omia","source_record_id":"OMIA:Gene:398298798","source_release":"retrieved-2026-09-12","symbol":"MTTY","taxon_id":9615}
{"comment":"","description":"collagen type XI alpha 1 chain","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":100685969,"omia_gene_id":398298857,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398298857","source_release":"retrieved-2026-09-12","symbol":"COL11A1","taxon_id":9615}
{"comment":"Other names for this gene:\nABPP","description":"amyloid beta precursor protein","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403407,"omia_gene_id":398298859,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398298859","source_release":"retrieved-2026-09-12","symbol":"APP","taxon_id":9615}
{"comment":"","description":"mitochondrial trans-2-enoyl-CoA reductase","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":478159,"omia_gene_id":398298860,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398298860","source_release":"retrieved-2026-09-12","symbol":"MECR","taxon_id":9615}
{"comment":"","description":"phosphate cytidylyltransferase 2, ethanolamine","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":607608,"omia_gene_id":398298867,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398298867","source_release":"retrieved-2026-09-12","symbol":"PCYT2","taxon_id":9615}
{"comment":"Other names for this gene:\nRLTPR","description":"capping protein regulator and myosin 1 linker 2","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":479683,"omia_gene_id":398298878,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398298878","source_release":"retrieved-2026-09-12","symbol":"CARMIL2","taxon_id":9615}
{"comment":"","description":"adenosine monophosphate deaminase 2","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":479913,"omia_gene_id":398298883,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398298883","source_release":"retrieved-2026-09-12","symbol":"AMPD2","taxon_id":9615}
{"comment":"","description":"NADH:ubiquinone oxidoreductase core subunit S7","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":476754,"omia_gene_id":398298884,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398298884","source_release":"retrieved-2026-09-12","symbol":"NDUFS7","taxon_id":9615}
{"comment":"","description":"DnaJ heat shock protein family (Hsp40) member C21","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":479364,"omia_gene_id":398298888,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398298888","source_release":"retrieved-2026-09-12","symbol":"DNAJC21","taxon_id":9615}
{"comment":"","description":"caspase recruitment domain family member 9","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":607492,"omia_gene_id":398298895,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398298895","source_release":"retrieved-2026-09-12","symbol":"CARD9","taxon_id":9615}
{"comment":"","description":"cytochrome b5 type A","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":119863882,"omia_gene_id":398298900,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398298900","source_release":"retrieved-2026-09-12","symbol":"CYB5A","taxon_id":9615}
{"comment":"","description":"desmoplakin","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":488207,"omia_gene_id":398298916,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398298916","source_release":"retrieved-2026-09-12","symbol":"DSP","taxon_id":9615}
{"comment":"","description":"phosphoenolpyruvate carboxykinase 2, mitochondrial","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":480255,"omia_gene_id":398298918,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398298918","source_release":"retrieved-2026-09-12","symbol":"PCK2","taxon_id":9615}
{"comment":"","description":"ring finger protein 170","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":475568,"omia_gene_id":398298925,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398298925","source_release":"retrieved-2026-09-12","symbol":"RNF170","taxon_id":9615}
{"comment":"Other names for this gene:\nNPAL1","description":"NIPA like domain containing 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":482138,"omia_gene_id":398298928,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398298928","source_release":"retrieved-2026-09-12","symbol":"NIPAL1","taxon_id":9615}
{"comment":"Other names for this gene:\nCPR, P450R","description":"cytochrome p450 oxidoreductase","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":489816,"omia_gene_id":398298941,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398298941","source_release":"retrieved-2026-09-12","symbol":"POR","taxon_id":9615}
{"comment":"Other names for this gene:\nCYP2B11, CYPIIB11","description":"cytochrome P450 2B11","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":474177,"omia_gene_id":398298942,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398298942","source_release":"retrieved-2026-09-12","symbol":"CYP2B6","taxon_id":9615}
{"comment":"","description":"inositol 1,4,5-trisphosphate receptor type 3","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":481746,"omia_gene_id":398298977,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398298977","source_release":"retrieved-2026-09-12","symbol":"ITPR3","taxon_id":9615}
{"comment":"","description":"biliverdin reductase A","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":475867,"omia_gene_id":398298978,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398298978","source_release":"retrieved-2026-09-12","symbol":"BLVRA","taxon_id":9615}
{"comment":"","description":"alpha tocopherol transfer protein","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403627,"omia_gene_id":398298980,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398298980","source_release":"retrieved-2026-09-12","symbol":"TTPA","taxon_id":9615}
{"comment":"","description":"GTP binding protein 2","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":481818,"omia_gene_id":398298983,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398298983","source_release":"retrieved-2026-09-12","symbol":"GTPBP2","taxon_id":9615}
{"comment":"","description":"RB1 inducible coiled-coil 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":477876,"omia_gene_id":398298986,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398298986","source_release":"retrieved-2026-09-12","symbol":"RB1CC1","taxon_id":9615}
{"comment":"","description":"junctophilin 2","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":610874,"omia_gene_id":398298997,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398298997","source_release":"retrieved-2026-09-12","symbol":"JPH2","taxon_id":9615}
{"comment":"","description":"DENN domain containing 1B","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":490259,"omia_gene_id":398299015,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299015","source_release":"retrieved-2026-09-12","symbol":"DENND1B","taxon_id":9615}
{"comment":"","description":"ephrin B3","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":607903,"omia_gene_id":398299021,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299021","source_release":"retrieved-2026-09-12","symbol":"EFNB3","taxon_id":9615}
{"comment":"Other names for this gene:\nPAI-1","description":"serpin family E member 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403476,"omia_gene_id":398299022,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299022","source_release":"retrieved-2026-09-12","symbol":"SERPINE1","taxon_id":9615}
{"comment":"Other names for this gene:\nGSTT5","description":"glutathione S-transferase theta-1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":477558,"omia_gene_id":398299025,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299025","source_release":"retrieved-2026-09-12","symbol":"LOC477558","taxon_id":9615}
{"comment":"Other names for this gene:\nCYPIIC41","description":"cytochrome P450 2C41","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":415123,"omia_gene_id":398299028,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299028","source_release":"retrieved-2026-09-12","symbol":"CYP2C41","taxon_id":9615}
{"comment":"","description":"platelet derived growth factor receptor alpha","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":442860,"omia_gene_id":398299029,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299029","source_release":"retrieved-2026-09-12","symbol":"PDGFRA","taxon_id":9615}
{"comment":"","description":"RANBP2-type and C3HC4-type zinc finger containing 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":485818,"omia_gene_id":398299046,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299046","source_release":"retrieved-2026-09-12","symbol":"RBCK1","taxon_id":9615}
{"comment":"","description":"arachidonate lipoxygenase 3","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":489487,"omia_gene_id":398299051,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299051","source_release":"retrieved-2026-09-12","symbol":"ALOXE3","taxon_id":9615}
{"comment":"","description":"spermatogenesis associated 7","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":480411,"omia_gene_id":398299074,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299074","source_release":"retrieved-2026-09-12","symbol":"SPATA7","taxon_id":9615}
{"comment":"","description":"gap junction protein beta 6","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":100688824,"omia_gene_id":398299086,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299086","source_release":"retrieved-2026-09-12","symbol":"GJB6","taxon_id":9615}
{"comment":"","description":"Fas cell surface death receptor","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":486469,"omia_gene_id":398299090,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299090","source_release":"retrieved-2026-09-12","symbol":"FAS","taxon_id":9615}
{"comment":"","description":"calcium voltage-gated channel subunit alpha1 F","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":480915,"omia_gene_id":398299092,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299092","source_release":"retrieved-2026-09-12","symbol":"CACNA1F","taxon_id":9615}
{"comment":"Other names for this gene:\nC27H12orf35, KIAA1551","description":"retroelement silencing factor 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":477650,"omia_gene_id":398299100,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299100","source_release":"retrieved-2026-09-12","symbol":"RESF1","taxon_id":9615}
{"comment":"","description":"glycine amidinotransferase","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":414733,"omia_gene_id":398299104,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299104","source_release":"retrieved-2026-09-12","symbol":"GATM","taxon_id":9615}
{"comment":"","description":"ER membrane protein complex subunit 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":612432,"omia_gene_id":398299106,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299106","source_release":"retrieved-2026-09-12","symbol":"EMC1","taxon_id":9615}
{"comment":"","description":"senataxin","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":480691,"omia_gene_id":398299107,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299107","source_release":"retrieved-2026-09-12","symbol":"SETX","taxon_id":9615}
{"comment":"","description":"thyroglobulin","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":482047,"omia_gene_id":398299108,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299108","source_release":"retrieved-2026-09-12","symbol":"TG","taxon_id":9615}
{"comment":"","description":"SUV39H1 histone lysine methyltransferase","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":491868,"omia_gene_id":398299109,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299109","source_release":"retrieved-2026-09-12","symbol":"SUV39H1","taxon_id":9615}
{"comment":"","description":"coagulation factor XIII A chain","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":478711,"omia_gene_id":398299111,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299111","source_release":"retrieved-2026-09-12","symbol":"F13A1","taxon_id":9615}
{"comment":"Other names for this gene:\nLCN1","description":"odorant binding protein 2B","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403830,"omia_gene_id":398299134,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299134","source_release":"retrieved-2026-09-12","symbol":"OBP2B","taxon_id":9615}
{"comment":"","description":"troponin I3, cardiac type","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":403566,"omia_gene_id":398299135,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299135","source_release":"retrieved-2026-09-12","symbol":"TNNI3","taxon_id":9615}
{"comment":"","description":"agrin","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":479574,"omia_gene_id":398299137,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299137","source_release":"retrieved-2026-09-12","symbol":"AGRN","taxon_id":9615}
{"comment":"","description":"sperm associated antigen 1","gene_type":"protein-coding","mapping_status":"resolved","ncbi_gene_id":607063,"omia_gene_id":398299138,"rank_eligible":true,"source_id":"omia","source_record_id":"OMIA:Gene:398299138","source_release":"retrieved-2026-09-12","symbol":"SPAG1","taxon_id":9615}