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 |
---|---|---|---|---|---|
C1970200 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 | ST3GAL3 | 6487 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Q11203 |
C1970209 | Alzheimer Disease 12 | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
C1970344 | Congenital Disorder Of Glycosylation, Type IIF | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
C1970431 | PITT-HOPKINS SYNDROME | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
C1970470 | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) | SFTPC | 6440 | surfactant protein C | P11686 |
C1970820 | Fabry Disease, Cardiac Variant | GLA | 2717 | galactosidase alpha | P06280 |
C1970827 | Phosphoribosylpyrophosphate Synthetase Superactivity | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
C1970827 | Phosphoribosylpyrophosphate Synthetase Superactivity | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
C2020284 | Stickler syndrome, type 1 | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
C2020284 | Stickler syndrome, type 1 | TECTA | 7007 | tectorin alpha | O75443 |
C2020284 | Stickler syndrome, type 1 | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
C2020284 | Stickler syndrome, type 1 | CEACAM6 | 4680 | CEA cell adhesion molecule 6 | P40199 |
C2020284 | Stickler syndrome, type 1 | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
C2047886 | (Idiopathic) normal pressure hydrocephalus | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
C2047886 | (Idiopathic) normal pressure hydrocephalus | NCAN | 1463 | neurocan | O14594 |
C2076596 | Influenza A (H5N1) | CD14 | 929 | CD14 molecule | P08571 |
C2239176 | Liver carcinoma | ST3GAL6 | 10402 | ST3 beta-galactoside alpha-2,3-sialyltransferase 6 | Q9Y274 |
C2239176 | Liver carcinoma | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
C2239176 | Liver carcinoma | B3GALT5 | 10317 | beta-1,3-galactosyltransferase 5 | Q9Y2C3 |
C2239176 | Liver carcinoma | FUT11 | 170384 | fucosyltransferase 11 | Q495W5 |
C2239176 | Liver carcinoma | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
C2239176 | Liver carcinoma | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
C2239176 | Liver carcinoma | PIGK | 10026 | phosphatidylinositol glycan anchor biosynthesis class K | Q92643 |
C2239176 | Liver carcinoma | MGAT5B | 146664 | alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B | Q3V5L5 |
C2239176 | Liver carcinoma | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
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Last updated: August 19, 2024