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 6951 - 6975 of 62743 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C1384666 hearing impairment SDHA 6389 succinate dehydrogenase complex flavoprotein subunit A P31040
C1384666 hearing impairment COLEC11 78989 collectin subfamily member 11 Q9BWP8
C1384583 Congenital absence of germinal epithelium of testes GAPDH 2597 glyceraldehyde-3-phosphate dehydrogenase P04406
C1384583 Congenital absence of germinal epithelium of testes PGAM1 5223 phosphoglycerate mutase 1 P18669
C1384583 Congenital absence of germinal epithelium of testes CYP2R1 120227 cytochrome P450 family 2 subfamily R member 1 Q6VVX0
C1384583 Congenital absence of germinal epithelium of testes CYP17A1 1586 cytochrome P450 family 17 subfamily A member 1 P05093
C1384583 Congenital absence of germinal epithelium of testes HSD3B2 3284 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 P26439
C1384583 Congenital absence of germinal epithelium of testes PIK3CD 5293 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta O00329
C1384583 Congenital absence of germinal epithelium of testes PRPS2 5634 phosphoribosyl pyrophosphate synthetase 2 P11908
C1384583 Congenital absence of germinal epithelium of testes TEX101 83639 testis expressed 101 Q9BY14
C1384583 Congenital absence of germinal epithelium of testes PIK3CA 5290 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha P42336
C1384583 Congenital absence of germinal epithelium of testes CYP11A1 1583 cytochrome P450 family 11 subfamily A member 1 P05108
C1384583 Congenital absence of germinal epithelium of testes CYP19A1 1588 cytochrome P450 family 19 subfamily A member 1 P11511
C1384583 Congenital absence of germinal epithelium of testes PIK3CB 5291 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta P42338
C1384583 Congenital absence of germinal epithelium of testes PIK3CG 5294 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma P48736
C1384514 Conn Syndrome CHST3 9469 carbohydrate sulfotransferase 3 Q7LGC8
C1384514 Conn Syndrome SLC26A2 1836 solute carrier family 26 member 2 P50443
C1384514 Conn Syndrome ATP6AP2 10159 ATPase H+ transporting accessory protein 2 O75787
C1384514 Conn Syndrome CYP17A1 1586 cytochrome P450 family 17 subfamily A member 1 P05093
C1384514 Conn Syndrome HSD3B2 3284 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 P26439
C1384514 Conn Syndrome HSD3B1 3283 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 P14060
C1384514 Conn Syndrome LGALS3 3958 galectin 3 P17931
C1384514 Conn Syndrome SLC33A1 9197 solute carrier family 33 member 1 O00400
C1384514 Conn Syndrome CD44 960 CD44 molecule (Indian blood group) P16070
C1384514 Conn Syndrome CYP11B2 1585 cytochrome P450 family 11 subfamily B member 2 P19099

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