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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 |
|---|---|---|---|---|---|
| C3553494 | CATARACT 38 | AGK | 55750 | acylglycerol kinase | Q53H12 |
| C3553517 | CORNELIA DE LANGE SYNDROME 4 | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C3553571 | Carbohydrate deficient glycoprotein syndrome type 2k | TMEM165 | 55858 | transmembrane protein 165 | Q9HC07 |
| C3553645 | MYASTHENIC SYNDROME, CONGENITAL, 13 | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C3553676 | HETEROTAXY, VISCERAL, 6, AUTOSOMAL | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C3553774 | INTERSTITIAL NEPHRITIS, KARYOMEGALIC | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C3553813 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C3553813 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C3554163 | DEAFNESS, AUTOSOMAL RECESSIVE 18B | OTOG | 340990 | otogelin | Q6ZRI0 |
| C3554316 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15 | ST3GAL3 | 6487 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Q11203 |
| C3554330 | NEPHROTIC SYNDROME, TYPE 7 | DGKE | 8526 | diacylglycerol kinase epsilon | P52429 |
| C3554349 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9 | CERS3 | 204219 | ceramide synthase 3 | Q8IU89 |
| C3554381 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C3554385 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu | DPM2 | 8818 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | O94777 |
| C3554460 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
| C3554460 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 | TMTC1 | 83857 | transmembrane O-mannosyltransferase targeting cadherins 1 | Q8IUR5 |
| C3554460 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C3554460 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
| C3554460 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 | FADS2 | 9415 | fatty acid desaturase 2 | O95864 |
| C3554460 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 | CLEC3A | 10143 | C-type lectin domain family 3 member A | O75596 |
| C3554460 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 | PLCH1 | 23007 | phospholipase C eta 1 | Q4KWH8 |
| C3554518 | COWDEN SYNDROME 5 | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C3554524 | MICROPHTHALMIA, ISOLATED 8 | ALDH1A3 | 220 | aldehyde dehydrogenase 1 family member A3 | P47895 |
| C3554638 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C3554657 | LISSENCEPHALY 5 | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
