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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 |
|---|---|---|---|---|---|
| C3669246 | Mammary adenocarcinoma | NTHL1 | 4913 | nth like DNA glycosylase 1 | P78549 |
| C3665596 | Warts | FCN3 | 8547 | ficolin 3 | O75636 |
| C3665596 | Warts | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C3665488 | Familial Osteochondritis Dissecans | ACAN | 176 | aggrecan | P16112 |
| C3665488 | Familial Osteochondritis Dissecans | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C3665382 | 2,8-Dihydroxyadenine Urolithiasis | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C3665382 | 2,8-Dihydroxyadenine Urolithiasis | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C3665382 | 2,8-Dihydroxyadenine Urolithiasis | UMOD | 7369 | uromodulin | P07911 |
| C3665365 | Arteriosclerotic cardiovascular disease, NOS | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C3665365 | Arteriosclerotic cardiovascular disease, NOS | LCAT | 3931 | lecithin-cholesterol acyltransferase | P04180 |
| C3665365 | Arteriosclerotic cardiovascular disease, NOS | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C3665365 | Arteriosclerotic cardiovascular disease, NOS | ACLY | 47 | ATP citrate lyase | P53396 |
| C3665365 | Arteriosclerotic cardiovascular disease, NOS | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C3665349 | Secondary hypothyroidism | HJV | 148738 | hemojuvelin BMP co-receptor | Q6ZVN8 |
| C3665349 | Secondary hypothyroidism | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C3665347 | Visual Impairment | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C3665347 | Visual Impairment | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C3665347 | Visual Impairment | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C3665347 | Visual Impairment | FKTN | 2218 | fukutin | O75072 |
| C3665347 | Visual Impairment | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C3665347 | Visual Impairment | PIGT | 51604 | phosphatidylinositol glycan anchor biosynthesis class T | Q969N2 |
| C3665347 | Visual Impairment | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C3665347 | Visual Impairment | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C3665347 | Visual Impairment | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C3665347 | Visual Impairment | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
