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
Displaying entries 7351 - 7375 of 62743 in total
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