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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 |
|---|---|---|---|---|---|
| C1861922 | CAMPOMELIC DYSPLASIA | MPI | 4351 | mannose phosphate isomerase | P34949 |
| C1861922 | CAMPOMELIC DYSPLASIA | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C1861922 | CAMPOMELIC DYSPLASIA | LGALS4 | 3960 | galectin 4 | P56470 |
| C1861922 | CAMPOMELIC DYSPLASIA | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C1861922 | CAMPOMELIC DYSPLASIA | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1861922 | CAMPOMELIC DYSPLASIA | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C1861922 | CAMPOMELIC DYSPLASIA | CD177 | 57126 | CD177 molecule | Q8N6Q3 |
| C1861922 | CAMPOMELIC DYSPLASIA | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0677055 | CARCINOMA OF VULVA | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0677055 | CARCINOMA OF VULVA | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0677055 | CARCINOMA OF VULVA | DCN | 1634 | decorin | P07585 |
| C0677055 | CARCINOMA OF VULVA | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0677055 | CARCINOMA OF VULVA | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0677055 | CARCINOMA OF VULVA | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C2748542 | CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder) | GPD1L | 23171 | glycerol-3-phosphate dehydrogenase 1 like | Q8N335 |
| C2748542 | CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder) | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C3150898 | CARDIOMYOPATHY, DILATED, 1GG | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C1969024 | CARDIOMYOPATHY, DILATED, 1X | FKTN | 2218 | fukutin | O75072 |
| C1861861 | CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1833511 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C1833508 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C1833518 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C3805373 | CATARACT 13 WITH ADULT i PHENOTYPE | GCNT2 | 2651 | glucosaminyl (N-acetyl) transferase 2 (I blood group) | Q8N0V5 |
| C3553494 | CATARACT 38 | AGK | 55750 | acylglycerol kinase | Q53H12 |
| C4225300 | CATARACT 44 | LSS | 4047 | lanosterol synthase | P48449 |
