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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 |
|---|---|---|---|---|---|
| C1842836 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C1842836 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C1842836 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii | COG1 | 9382 | component of oligomeric golgi complex 1 | Q8WTW3 |
| C1842836 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C3150913 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip | ALG11 | 440138 | ALG11 alpha-1,2-mannosyltransferase | Q2TAA5 |
| C3554385 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu | DPM2 | 8818 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | O94777 |
| C3151867 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C3151221 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0795907 | CONOTRUNCAL ANOMALY FACE SYNDROME | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0795907 | CONOTRUNCAL ANOMALY FACE SYNDROME | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0220724 | CONSTRICTING BANDS, CONGENITAL | CYP51A1 | 1595 | cytochrome P450 family 51 subfamily A member 1 | Q16850 |
| C1852557 | CORNEA PLANA 1 | DCN | 1634 | decorin | P07585 |
| C2748502 | CORNEAL DYSTROPHY, POSTERIOR AMORPHOUS | DCN | 1634 | decorin | P07585 |
| C3553517 | CORNELIA DE LANGE SYNDROME 4 | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C1842247 | CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C1842247 | CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 | PLPP3 | 8613 | phospholipid phosphatase 3 | O14495 |
| C3551716 | CORTISONE REDUCTASE DEFICIENCY 1 | H6PD | 9563 | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase | O95479 |
| C3553382 | CORTISONE REDUCTASE DEFICIENCY 2 | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C3554518 | COWDEN SYNDROME 5 | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1852502 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C1852502 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | FKTN | 2218 | fukutin | O75072 |
| C1852502 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C1852502 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1852502 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | ST3GAL4 | 6484 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | Q11206 |
| C1852502 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | MPI | 4351 | mannose phosphate isomerase | P34949 |
