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 |
---|---|---|---|---|---|
C1848201 | Subcortical Band Heterotopia | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
C1848201 | Subcortical Band Heterotopia | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
C1848201 | Subcortical Band Heterotopia | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
C0040149 | Subacute thyroiditis | GUSB | 2990 | glucuronidase beta | P08236 |
C0040149 | Subacute thyroiditis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
C0038522 | Subacute Sclerosing Panencephalitis | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
C0038522 | Subacute Sclerosing Panencephalitis | SDC1 | 6382 | syndecan 1 | P18827 |
C0038522 | Subacute Sclerosing Panencephalitis | CD38 | 952 | CD38 molecule | P28907 |
C0038522 | Subacute Sclerosing Panencephalitis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
C0038522 | Subacute Sclerosing Panencephalitis | GLO1 | 2739 | glyoxalase I | Q04760 |
C0014122 | Subacute Bacterial Endocarditis | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
C0014122 | Subacute Bacterial Endocarditis | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
C0546953 | Subacromial bursitis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
C0751529 | Stuttering, Developmental | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
C0038506 | Stuttering | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
C0038506 | Stuttering | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
C0038506 | Stuttering | NAGPA | 51172 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase | Q9UK23 |
C0038506 | Stuttering | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
C0038506 | Stuttering | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
C0038506 | Stuttering | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
C0038505 | Sturge-Weber Syndrome | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
C0038505 | Sturge-Weber Syndrome | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
C0038505 | Sturge-Weber Syndrome | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
C0038505 | Sturge-Weber Syndrome | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
C0038505 | Sturge-Weber Syndrome | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
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Last updated: August 19, 2024