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 |
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DisGeNET | July 29, 2024 |
Disease ID | Disease Name ▼ | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C0010964 | Dandy-Walker Syndrome | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
C0010930 | Dacryocystitis | LYZ | 4069 | lysozyme | P61626 |
C0155223 | Dacryoadenitis | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
C1842534 | DYSTONIA 18 (disorder) | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
C2677567 | DYSTONIA 16 (disorder) | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
C4551974 | DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 | INPP4A | 3631 | inositol polyphosphate-4-phosphatase type I A | Q96PE3 |
C1832174 | DOYNE HONEYCOMB RETINAL DYSTROPHY | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
C1860787 | DOWN SYNDROME CRITICAL REGION | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
C1860787 | DOWN SYNDROME CRITICAL REGION | TNFRSF10C | 8794 | TNF receptor superfamily member 10c | O14798 |
C1860787 | DOWN SYNDROME CRITICAL REGION | CBR1 | 873 | carbonyl reductase 1 | P16152 |
C1860787 | DOWN SYNDROME CRITICAL REGION | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
C1860787 | DOWN SYNDROME CRITICAL REGION | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
C3810313 | DOWLING-DEGOS DISEASE 4 | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
C3809147 | DOWLING-DEGOS DISEASE 2 | POFUT1 | 23509 | protein O-fucosyltransferase 1 | Q9H488 |
C1848296 | DOSAGE-SENSITIVE SEX REVERSAL | HPSE | 10855 | heparanase | Q9Y251 |
C1848296 | DOSAGE-SENSITIVE SEX REVERSAL | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
C1848296 | DOSAGE-SENSITIVE SEX REVERSAL | PLCE1 | 51196 | phospholipase C epsilon 1 | Q9P212 |
C1848296 | DOSAGE-SENSITIVE SEX REVERSAL | CAT | 847 | catalase | P04040 |
C1848296 | DOSAGE-SENSITIVE SEX REVERSAL | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
C1848296 | DOSAGE-SENSITIVE SEX REVERSAL | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
C1848296 | DOSAGE-SENSITIVE SEX REVERSAL | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
C1848296 | DOSAGE-SENSITIVE SEX REVERSAL | LPIN1 | 23175 | lipin 1 | Q14693 |
C1848296 | DOSAGE-SENSITIVE SEX REVERSAL | GPX2 | 2877 | glutathione peroxidase 2 | P18283 |
C1848296 | DOSAGE-SENSITIVE SEX REVERSAL | PLCB4 | 5332 | phospholipase C beta 4 | Q15147 |
C1848296 | DOSAGE-SENSITIVE SEX REVERSAL | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
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Last updated: August 19, 2024