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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 |
| 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 |
| C0009451 | Communicating Hydrocephalus | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0009451 | Communicating Hydrocephalus | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0009460 | Communication impairment | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C0009460 | Communication impairment | ARSD | 414 | arylsulfatase D | P51689 |
| C0009595 | Obsessive-Compulsive Personality | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0009595 | Obsessive-Compulsive Personality | ACAN | 176 | aggrecan | P16112 |
| C0009663 | Condylomata Acuminata | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0009663 | Condylomata Acuminata | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0009663 | Condylomata Acuminata | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0009663 | Condylomata Acuminata | STS | 412 | steroid sulfatase | P08842 |
| C0009663 | Condylomata Acuminata | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0009663 | Condylomata Acuminata | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0009663 | Condylomata Acuminata | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0009663 | Condylomata Acuminata | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0009663 | Condylomata Acuminata | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0009663 | Condylomata Acuminata | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0009691 | Congenital cataract | GCNT2 | 2651 | glucosaminyl (N-acetyl) transferase 2 (I blood group) | Q8N0V5 |
| C0009691 | Congenital cataract | CRYL1 | 51084 | crystallin lambda 1 | Q9Y2S2 |
| C0009691 | Congenital cataract | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
