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 |
---|---|---|---|---|---|
C0040034 | Thrombocytopenia | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
C0040034 | Thrombocytopenia | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
C0040034 | Thrombocytopenia | BAAT | 570 | bile acid-CoA:amino acid N-acyltransferase | Q14032 |
C0040034 | Thrombocytopenia | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
C0040034 | Thrombocytopenia | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
C0040034 | Thrombocytopenia | DGKE | 8526 | diacylglycerol kinase epsilon | P52429 |
C0272286 | Thrombocytopenia due to platelet alloimmunization | HPSE | 10855 | heparanase | Q9Y251 |
C0272286 | Thrombocytopenia due to platelet alloimmunization | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
C0272286 | Thrombocytopenia due to platelet alloimmunization | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
C0272286 | Thrombocytopenia due to platelet alloimmunization | CLEC1B | 51266 | C-type lectin domain family 1 member B | Q9P126 |
C0272286 | Thrombocytopenia due to platelet alloimmunization | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
C0272286 | Thrombocytopenia due to platelet alloimmunization | SELP | 6403 | selectin P | P16109 |
C0272286 | Thrombocytopenia due to platelet alloimmunization | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
C0272286 | Thrombocytopenia due to platelet alloimmunization | CD72 | 971 | CD72 molecule | P21854 |
C0272286 | Thrombocytopenia due to platelet alloimmunization | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
C0836924 | Thrombocytosis | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
C0836924 | Thrombocytosis | CALR | 811 | calreticulin | P27797 |
C0836924 | Thrombocytosis | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
C0836924 | Thrombocytosis | CD177 | 57126 | CD177 molecule | Q8N6Q3 |
C0836924 | Thrombocytosis | NAAA | 27163 | N-acylethanolamine acid amidase | Q02083 |
C0836924 | Thrombocytosis | HMGCL | 3155 | 3-hydroxy-3-methylglutaryl-CoA lyase | P35914 |
C0398623 | Thrombophilia | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
C0398623 | Thrombophilia | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
C0398623 | Thrombophilia | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
C0398623 | Thrombophilia | HPSE | 10855 | heparanase | Q9Y251 |
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Last updated: August 19, 2024