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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 |
|---|---|---|---|---|---|
| C0079731 | B-Cell Lymphomas | FMOD | 2331 | fibromodulin | Q06828 |
| C0079731 | B-Cell Lymphomas | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0079731 | B-Cell Lymphomas | GFRA1 | 2674 | GDNF family receptor alpha 1 | P56159 |
| C0079731 | B-Cell Lymphomas | GLDC | 2731 | glycine decarboxylase | P23378 |
| C0079731 | B-Cell Lymphomas | ITPKB | 3707 | inositol-trisphosphate 3-kinase B | P27987 |
| C0079731 | B-Cell Lymphomas | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0079731 | B-Cell Lymphomas | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0079731 | B-Cell Lymphomas | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0079731 | B-Cell Lymphomas | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0079731 | B-Cell Lymphomas | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0079731 | B-Cell Lymphomas | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0079731 | B-Cell Lymphomas | CNTN2 | 6900 | contactin 2 | Q02246 |
| C4284594 | BAND HETEROTOPIA | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C3888198 | BESTROPHINOPATHY, AUTOSOMAL RECESSIVE | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C3888198 | BESTROPHINOPATHY, AUTOSOMAL RECESSIVE | CAT | 847 | catalase | P04040 |
| C3888198 | BESTROPHINOPATHY, AUTOSOMAL RECESSIVE | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C1834674 | BETHLEM MYOPATHY 1 | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1834674 | BETHLEM MYOPATHY 1 | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C1834674 | BETHLEM MYOPATHY 1 | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C1859486 | BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C1859486 | BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C4310624 | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 | ACOX2 | 8309 | acyl-CoA oxidase 2 | Q99424 |
| C1862112 | BRACHYDACTYLY, TYPE B1 | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C1853137 | BRACHYDACTYLY-SYNDACTYLY SYNDROME | MBOAT1 | 154141 | membrane bound O-acyltransferase domain containing 1 | Q6ZNC8 |
| C0004576 | Babesiosis | UMOD | 7369 | uromodulin | P07911 |
