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 |
---|---|---|---|---|---|
C0030481 | Tropical Spastic Paraparesis | ACAN | 176 | aggrecan | P16112 |
C0030481 | Tropical Spastic Paraparesis | KLRC1 | 3821 | killer cell lectin like receptor C1 | P26715 |
C0030481 | Tropical Spastic Paraparesis | SELL | 6402 | selectin L | P14151 |
C0030481 | Tropical Spastic Paraparesis | KLRD1 | 3824 | killer cell lectin like receptor D1 | Q13241 |
C0030481 | Tropical Spastic Paraparesis | CNTN2 | 6900 | contactin 2 | Q02246 |
C0041182 | Trophoblastic Neoplasms | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
C0041182 | Trophoblastic Neoplasms | LGALS1 | 3956 | galectin 1 | P09382 |
C4317091 | Trisomy 18 Syndrome | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
C4317091 | Trisomy 18 Syndrome | CD38 | 952 | CD38 molecule | P28907 |
C0241397 | Triphalangeal thumb | UMOD | 7369 | uromodulin | P07911 |
C1860808 | Triosephosphate Isomerase Deficiency | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
C0265535 | Trigonocephaly | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
C0265535 | Trigonocephaly | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
C0268238 | Triglyceride storage disease with ichthyosis | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
C0268238 | Triglyceride storage disease with ichthyosis | AGK | 55750 | acylglycerol kinase | Q53H12 |
C0268238 | Triglyceride storage disease with ichthyosis | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
C0268238 | Triglyceride storage disease with ichthyosis | DGAT1 | 8694 | diacylglycerol O-acyltransferase 1 | O75907 |
C0268238 | Triglyceride storage disease with ichthyosis | LPIN2 | 9663 | lipin 2 | Q92539 |
C0268238 | Triglyceride storage disease with ichthyosis | PEMT | 10400 | phosphatidylethanolamine N-methyltransferase | Q9UBM1 |
C0040997 | Trigeminal Neuralgia | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
C0040997 | Trigeminal Neuralgia | PRNP | 5621 | prion protein | P04156 |
C0040997 | Trigeminal Neuralgia | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
C0040997 | Trigeminal Neuralgia | ACLY | 47 | ATP citrate lyase | P53396 |
C0040997 | Trigeminal Neuralgia | PRNP | 5621 | prion protein | F7VJQ1 |
C1969443 | Trifunctional Protein Deficiency With Myopathy And Neuropathy | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
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Last updated: August 19, 2024