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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID ▲ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C1833662 | INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C1833662 | INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C1833683 | NEPHROLITHIASIS, CALCIUM OXALATE | KL | 9365 | klotho | Q9UEF7 |
| C1833683 | NEPHROLITHIASIS, CALCIUM OXALATE | HOGA1 | 112817 | 4-hydroxy-2-oxoglutarate aldolase 1 | Q86XE5 |
| C1833683 | NEPHROLITHIASIS, CALCIUM OXALATE | GRHPR | 9380 | glyoxylate and hydroxypyruvate reductase | Q9UBQ7 |
| C1833683 | NEPHROLITHIASIS, CALCIUM OXALATE | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C1833683 | NEPHROLITHIASIS, CALCIUM OXALATE | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C1833683 | NEPHROLITHIASIS, CALCIUM OXALATE | HAO1 | 54363 | hydroxyacid oxidase 1 | Q9UJM8 |
| C1833798 | Optic Nerve Aplasia, Bilateral | CNTN4 | 152330 | contactin 4 | Q8IWV2 |
| C1833921 | Familial medullary thyroid carcinoma | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C1833921 | Familial medullary thyroid carcinoma | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C1833921 | Familial medullary thyroid carcinoma | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C1833921 | Familial medullary thyroid carcinoma | NTM | 50863 | neurotrimin | Q9P121 |
| C1834304 | AMYOTROPHY, HEREDITARY NEURALGIC | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C1834523 | ARTHROGRYPOSIS, DISTAL, TYPE 2B | STS | 412 | steroid sulfatase | P08842 |
| C1834531 | MYOPIA 2 (disorder) | LPIN2 | 9663 | lipin 2 | Q92539 |
| C1834558 | Myopathy, Centronuclear, Autosomal Dominant | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C1834558 | Myopathy, Centronuclear, Autosomal Dominant | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C1834569 | Jankovic Rivera syndrome | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C1834582 | MYELOPROLIFERATIVE SYNDROME, TRANSIENT | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C1834582 | MYELOPROLIFERATIVE SYNDROME, TRANSIENT | OVGP1 | 5016 | oviductal glycoprotein 1 | Q12889 |
| C1834582 | MYELOPROLIFERATIVE SYNDROME, TRANSIENT | CLEC10A | 10462 | C-type lectin domain containing 10A | Q8IUN9 |
| C1834582 | MYELOPROLIFERATIVE SYNDROME, TRANSIENT | SIRT4 | 23409 | sirtuin 4 | Q9Y6E7 |
| C1834582 | MYELOPROLIFERATIVE SYNDROME, TRANSIENT | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C1834582 | MYELOPROLIFERATIVE SYNDROME, TRANSIENT | SLC35G1 | 159371 | solute carrier family 35 member G1 | Q2M3R5 |
