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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 |
|---|---|---|---|---|---|
| C0265252 | Coffin-Lowry syndrome | HSD17B6 | 8630 | hydroxysteroid 17-beta dehydrogenase 6 | O14756 |
| C0265252 | Coffin-Lowry syndrome | CRLS1 | 54675 | cardiolipin synthase 1 | Q9UJA2 |
| C0265259 | Popliteal pterygium syndrome | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0265259 | Popliteal pterygium syndrome | POFUT2 | 23275 | protein O-fucosyltransferase 2 | Q9Y2G5 |
| C0265261 | Multiple pterygium syndrome | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0265261 | Multiple pterygium syndrome | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0265268 | Adams Oliver syndrome | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0265274 | Achondrogenesis, type IB (disorder) | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0265274 | Achondrogenesis, type IB (disorder) | DCN | 1634 | decorin | P07585 |
| C0265282 | Fibrochondrogenesis | SLC35D1 | 23169 | solute carrier family 35 member D1 | Q9NTN3 |
| C0265283 | Atelosteogenesis, type 1 | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0265286 | Dyggve-Melchior-Clausen syndrome | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0265289 | Metaphyseal chondrodysplasia Schmid type | MLYCD | 23417 | malonyl-CoA decarboxylase | O95822 |
| C0265306 | Greig cephalopolysyndactyly syndrome | PGAM2 | 5224 | phosphoglycerate mutase 2 | P15259 |
| C0265319 | Fibrous skin tumor of tuberous sclerosis | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0265319 | Fibrous skin tumor of tuberous sclerosis | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0265319 | Fibrous skin tumor of tuberous sclerosis | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0265319 | Fibrous skin tumor of tuberous sclerosis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0265319 | Fibrous skin tumor of tuberous sclerosis | PLCD1 | 5333 | phospholipase C delta 1 | P51178 |
| C0265319 | Fibrous skin tumor of tuberous sclerosis | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0265326 | Bannayan-Riley-Ruvalcaba Syndrome | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0265326 | Bannayan-Riley-Ruvalcaba Syndrome | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0265326 | Bannayan-Riley-Ruvalcaba Syndrome | ARSD | 414 | arylsulfatase D | P51689 |
| C0265326 | Bannayan-Riley-Ruvalcaba Syndrome | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0265326 | Bannayan-Riley-Ruvalcaba Syndrome | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
