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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 |
|---|---|---|---|---|---|
| C3665347 | Visual Impairment | PRNP | 5621 | prion protein | F7VJQ1 |
| C3665347 | Visual Impairment | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C3665347 | Visual Impairment | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C3665349 | Secondary hypothyroidism | HJV | 148738 | hemojuvelin BMP co-receptor | Q6ZVN8 |
| C3665349 | Secondary hypothyroidism | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| 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 |
| 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 |
| C3665488 | Familial Osteochondritis Dissecans | ACAN | 176 | aggrecan | P16112 |
| C3665488 | Familial Osteochondritis Dissecans | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C3665596 | Warts | FCN3 | 8547 | ficolin 3 | O75636 |
| C3665596 | Warts | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C3669246 | Mammary adenocarcinoma | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C3669246 | Mammary adenocarcinoma | LGALS1 | 3956 | galectin 1 | P09382 |
| C3669246 | Mammary adenocarcinoma | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C3669246 | Mammary adenocarcinoma | NTHL1 | 4913 | nth like DNA glycosylase 1 | P78549 |
| C3693482 | Giant Cell Fibroblastoma | CD38 | 952 | CD38 molecule | P28907 |
| C3693482 | Giant Cell Fibroblastoma | VCAN | 1462 | versican | P13611 |
| C3693482 | Giant Cell Fibroblastoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C3695318 | Chronic kidney disease due to hypertension | ACE | 1636 | angiotensin I converting enzyme | P12821 |
