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
Displaying entries 44726 - 44750 of 62743 in total
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