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 |
Disease ID | Disease Name ▼ | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C0009447 | Common Variable Immunodeficiency | CD14 | 929 | CD14 molecule | P08571 |
C0009447 | Common Variable Immunodeficiency | DAG1 | 1605 | dystroglycan 1 | Q14118 |
C0009447 | Common Variable Immunodeficiency | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
C0009447 | Common Variable Immunodeficiency | CDH13 | 1012 | cadherin 13 | P55290 |
C0009447 | Common Variable Immunodeficiency | FCN2 | 2220 | ficolin 2 | Q15485 |
C0009447 | Common Variable Immunodeficiency | CLEC16A | 23274 | C-type lectin domain containing 16A | Q2KHT3 |
C0338480 | Common Migraine | COMT | 1312 | catechol-O-methyltransferase | P21964 |
C0338480 | Common Migraine | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
C0338480 | Common Migraine | ACE | 1636 | angiotensin I converting enzyme | P12821 |
C0338480 | Common Migraine | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
C0338480 | Common Migraine | CAT | 847 | catalase | P04040 |
C0338480 | Common Migraine | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
C0338480 | Common Migraine | GFRA1 | 2674 | GDNF family receptor alpha 1 | P56159 |
C0338480 | Common Migraine | PLAUR | 5329 | plasminogen activator, urokinase receptor | Q03405 |
C0009443 | Common Cold | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
C0009443 | Common Cold | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
C0009443 | Common Cold | SELP | 6403 | selectin P | P16109 |
C0009443 | Common Cold | PLAAT3 | 11145 | phospholipase A and acyltransferase 3 | P53816 |
C0268119 | Combined molybdoflavoprotein enzyme deficiency | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
C0268119 | Combined molybdoflavoprotein enzyme deficiency | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
C0494261 | Combined immunodeficiency | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
C0494261 | Combined immunodeficiency | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
C0494261 | Combined immunodeficiency | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
C2673635 | Combined Saposin Deficiency | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
C2673635 | Combined Saposin Deficiency | PSAP | 5660 | prosaposin | P07602 |
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Last updated: August 19, 2024