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 10101 - 10125 of 62743 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C0009691 Congenital cataract AGK 55750 acylglycerol kinase Q53H12
C0009691 Congenital cataract SLC33A1 9197 solute carrier family 33 member 1 O00400
C0009691 Congenital cataract GPC5 2262 glypican 5 P78333
C0009691 Congenital cataract GALK1 2584 galactokinase 1 P51570
C0009691 Congenital cataract SORD 6652 sorbitol dehydrogenase Q00796
C0009691 Congenital cataract CYP27A1 1593 cytochrome P450 family 27 subfamily A member 1 Q02318
C0009691 Congenital cataract LSS 4047 lanosterol synthase P48449
C0009691 Congenital cataract OCRL 4952 OCRL inositol polyphosphate-5-phosphatase Q01968
C0009691 Congenital cataract ALDH7A1 501 aldehyde dehydrogenase 7 family member A1 P49419
C0009691 Congenital cataract PTEN 5728 phosphatase and tensin homolog P60484
C0009714 Hepatic Fibrosis, Congenital EOGT 285203 EGF domain specific O-linked N-acetylglucosamine transferase Q5NDL2
C0009714 Hepatic Fibrosis, Congenital DOLK 22845 dolichol kinase Q9UPQ8
C0009714 Hepatic Fibrosis, Congenital MPI 4351 mannose phosphate isomerase P34949
C0009714 Hepatic Fibrosis, Congenital INPP5E 56623 inositol polyphosphate-5-phosphatase E Q9NRR6
C0009714 Hepatic Fibrosis, Congenital PNPLA6 10908 patatin like phospholipase domain containing 6 Q8IY17
C0009714 Hepatic Fibrosis, Congenital HJV 148738 hemojuvelin BMP co-receptor Q6ZVN8
C0009714 Hepatic Fibrosis, Congenital ACE 1636 angiotensin I converting enzyme P12821
C0009714 Hepatic Fibrosis, Congenital CYP7B1 9420 cytochrome P450 family 7 subfamily B member 1 O75881
C0009714 Hepatic Fibrosis, Congenital CD44 960 CD44 molecule (Indian blood group) P16070
C0009763 Conjunctivitis PLD3 23646 phospholipase D family member 3 Q8IV08
C0009763 Conjunctivitis IMPA1 3612 inositol monophosphatase 1 P29218
C0009763 Conjunctivitis LGALS1 3956 galectin 1 P09382
C0009763 Conjunctivitis MBL2 4153 mannose binding lectin 2 P11226
C0009763 Conjunctivitis CD14 929 CD14 molecule P08571
C0009766 Allergic Conjunctivitis LGALS3 3958 galectin 3 P17931

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Last updated: August 19, 2024