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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 |
|---|---|---|---|---|---|
| C1852502 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C1852502 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | LGALS4 | 3960 | galectin 4 | P56470 |
| C1852502 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C1852502 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1852502 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | CD177 | 57126 | CD177 molecule | Q8N6Q3 |
| C1852502 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C2678439 | CRANIOOSTEOARTHROPATHY | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0206138 | CREST Syndrome | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C0206138 | CREST Syndrome | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0206138 | CREST Syndrome | CD22 | 933 | CD22 molecule | P20273 |
| C4479387 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C4479387 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C4479409 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C4479409 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C2749685 | CYSTINOSIS, ATYPICAL NEPHROPATHIC (disorder) | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C1968949 | Cakut | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C1968949 | Cakut | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C1968949 | Cakut | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1968949 | Cakut | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1968949 | Cakut | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1968949 | Cakut | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1968949 | Cakut | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0264324 | Calcification of trachea | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0006663 | Calcinosis | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C0006663 | Calcinosis | KL | 9365 | klotho | Q9UEF7 |
