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 |
---|---|---|---|---|---|
C0877024 | Schimke immunoosseous dysplasia | GM2A | 2760 | GM2 ganglioside activator | P17900 |
C0877024 | Schimke immunoosseous dysplasia | HEXB | 3074 | hexosaminidase subunit beta | P07686 |
C0877024 | Schimke immunoosseous dysplasia | AKR1B10 | 57016 | aldo-keto reductase family 1 member B10 | O60218 |
C0877024 | Schimke immunoosseous dysplasia | CHPT1 | 56994 | choline phosphotransferase 1 | Q8WUD6 |
C0036310 | Scheuermann's Disease | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
C0036310 | Scheuermann's Disease | CD38 | 952 | CD38 molecule | P28907 |
C0036285 | Scarlet Fever | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
C0265534 | Scaphycephaly | IDS | 3423 | iduronate 2-sulfatase | P22304 |
C0265534 | Scaphycephaly | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
C0265534 | Scaphycephaly | ALPP | 250 | alkaline phosphatase, placental | P05187 |
C0265534 | Scaphycephaly | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
C0265534 | Scaphycephaly | CNTN1 | 1272 | contactin 1 | Q12860 |
C0265534 | Scaphycephaly | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
C1266043 | Sarcomatoid Renal Cell Carcinoma | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
C1266043 | Sarcomatoid Renal Cell Carcinoma | LDHB | 3945 | lactate dehydrogenase B | P07195 |
C1266043 | Sarcomatoid Renal Cell Carcinoma | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
C1266043 | Sarcomatoid Renal Cell Carcinoma | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
C1266043 | Sarcomatoid Renal Cell Carcinoma | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
C1266043 | Sarcomatoid Renal Cell Carcinoma | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
C1266043 | Sarcomatoid Renal Cell Carcinoma | ANXA4 | 307 | annexin A4 | P09525 |
C1266043 | Sarcomatoid Renal Cell Carcinoma | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
C1266043 | Sarcomatoid Renal Cell Carcinoma | LMAN2L | 81562 | lectin, mannose binding 2 like | Q9H0V9 |
C1266043 | Sarcomatoid Renal Cell Carcinoma | INPP4B | 8821 | inositol polyphosphate-4-phosphatase type II B | O15327 |
C1266043 | Sarcomatoid Renal Cell Carcinoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
C1266043 | Sarcomatoid Renal Cell Carcinoma | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
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Last updated: August 19, 2024