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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 |
|---|---|---|---|---|---|
| C3553382 | CORTISONE REDUCTASE DEFICIENCY 2 | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C3551716 | CORTISONE REDUCTASE DEFICIENCY 1 | H6PD | 9563 | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase | O95479 |
| 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 |
| C3553517 | CORNELIA DE LANGE SYNDROME 4 | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C2748502 | CORNEAL DYSTROPHY, POSTERIOR AMORPHOUS | DCN | 1634 | decorin | P07585 |
| C1852557 | CORNEA PLANA 1 | DCN | 1634 | decorin | P07585 |
| C0220724 | CONSTRICTING BANDS, CONGENITAL | CYP51A1 | 1595 | cytochrome P450 family 51 subfamily A member 1 | Q16850 |
| 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 |
| C3151221 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C3151867 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C3554385 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu | DPM2 | 8818 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | O94777 |
| C3150913 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip | ALG11 | 440138 | ALG11 alpha-1,2-mannosyltransferase | Q2TAA5 |
| C1842836 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C1842836 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| 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 |
| C1836669 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If | ALG3 | 10195 | ALG3 alpha-1,3- mannosyltransferase | Q92685 |
| C1836669 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C1837396 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| C1837396 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie | DPM1 | 8813 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | O60762 |
| C1837396 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
