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 |
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DisGeNET | July 29, 2024 |
Disease ID | Disease Name ▼ | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C0206684 | Sebaceous Adenocarcinoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
C0085159 | Seasonal Affective Disorder | COMT | 1312 | catechol-O-methyltransferase | P21964 |
C0085159 | Seasonal Affective Disorder | ACE | 1636 | angiotensin I converting enzyme | P12821 |
C0085159 | Seasonal Affective Disorder | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
C0085159 | Seasonal Affective Disorder | AMY1B | 277 | amylase alpha 1B | P04745 |
C0085159 | Seasonal Affective Disorder | AMY1A | 276 | amylase alpha 1A | P04745 |
C0085159 | Seasonal Affective Disorder | AMY1C | 278 | amylase alpha 1C | P04745 |
C0036489 | Sea-Blue Histiocyte Syndrome | GLB1 | 2720 | galactosidase beta 1 | P16278 |
C0036489 | Sea-Blue Histiocyte Syndrome | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
C2748572 | SeSAME syndrome | PI4KB | 5298 | phosphatidylinositol 4-kinase beta | Q9UBF8 |
C0423775 | Scurfiness of scalp | CYP51A1 | 1595 | cytochrome P450 family 51 subfamily A member 1 | Q16850 |
C0036457 | Scrapie | PRNP | 5621 | prion protein | P04156 |
C0036457 | Scrapie | PRNP | 5621 | prion protein | F7VJQ1 |
C0796149 | Scott Syndrome | ANXA5 | 308 | annexin A5 | P08758 |
C0036454 | Scotoma | ARSG | 22901 | arylsulfatase G | Q96EG1 |
C0036439 | Scoliosis, unspecified | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
C0036439 | Scoliosis, unspecified | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
C0036439 | Scoliosis, unspecified | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
C0036439 | Scoliosis, unspecified | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
C0036439 | Scoliosis, unspecified | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
C0036439 | Scoliosis, unspecified | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
C0036439 | Scoliosis, unspecified | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
C0036439 | Scoliosis, unspecified | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
C0036439 | Scoliosis, unspecified | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
C0036439 | Scoliosis, unspecified | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
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Last updated: August 19, 2024