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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 |
|---|---|---|---|---|---|
| C3714756 | Intellectual Disability | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C3714756 | Intellectual Disability | TKT | 7086 | transketolase | P29401 |
| C3714756 | Intellectual Disability | CNTN2 | 6900 | contactin 2 | Q02246 |
| C3714756 | Intellectual Disability | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C3714756 | Intellectual Disability | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C3714756 | Intellectual Disability | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C3714756 | Intellectual Disability | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C3714756 | Intellectual Disability | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C3714756 | Intellectual Disability | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C3714756 | Intellectual Disability | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C3714756 | Intellectual Disability | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C3714756 | Intellectual Disability | SUCLG1 | 8802 | succinate-CoA ligase GDP/ADP-forming subunit alpha | P53597 |
| C3714772 | Recurrent fevers | GALC | 2581 | galactosylceramidase | P54803 |
| C3714772 | Recurrent fevers | LPIN2 | 9663 | lipin 2 | Q92539 |
| C3714772 | Recurrent fevers | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
| C3714772 | Recurrent fevers | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C3714899 | SYMPHALANGISM, PROXIMAL, 1A | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C3714899 | SYMPHALANGISM, PROXIMAL, 1A | SDC2 | 6383 | syndecan 2 | P34741 |
| C3714932 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C3805278 | Extrahepatic Cholangiocarcinoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C3805278 | Extrahepatic Cholangiocarcinoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C3805278 | Extrahepatic Cholangiocarcinoma | UGDH | 7358 | UDP-glucose 6-dehydrogenase | O60701 |
| C3805278 | Extrahepatic Cholangiocarcinoma | H6PD | 9563 | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase | O95479 |
| C3805278 | Extrahepatic Cholangiocarcinoma | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C3805278 | Extrahepatic Cholangiocarcinoma | ALPI | 248 | alkaline phosphatase, intestinal | P09923 |
