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 451 - 475 of 62743 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C4552000 Episodic Kinesigenic Dyskinesia 1 GAL3ST1 9514 galactose-3-O-sulfotransferase 1 Q99999
C4552000 Episodic Kinesigenic Dyskinesia 1 COMT 1312 catechol-O-methyltransferase P21964
C4552000 Episodic Kinesigenic Dyskinesia 1 APRT 353 adenine phosphoribosyltransferase P07741
C4552000 Episodic Kinesigenic Dyskinesia 1 INPP5E 56623 inositol polyphosphate-5-phosphatase E Q9NRR6
C4552000 Episodic Kinesigenic Dyskinesia 1 ACE 1636 angiotensin I converting enzyme P12821
C4552000 Episodic Kinesigenic Dyskinesia 1 PKD1L3 342372 polycystin 1 like 3, transient receptor potential channel interacting Q7Z443
C4552000 Episodic Kinesigenic Dyskinesia 1 PIK3CD 5293 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta O00329
C4552000 Episodic Kinesigenic Dyskinesia 1 SELE 6401 selectin E P16581
C4552000 Episodic Kinesigenic Dyskinesia 1 PIP5K1A 8394 phosphatidylinositol-4-phosphate 5-kinase type 1 alpha Q99755
C4552000 Episodic Kinesigenic Dyskinesia 1 PIK3CA 5290 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha P42336
C4552000 Episodic Kinesigenic Dyskinesia 1 PKLR 5313 pyruvate kinase L/R P30613
C4552000 Episodic Kinesigenic Dyskinesia 1 PCYT1A 5130 phosphate cytidylyltransferase 1, choline, alpha P49585
C4552000 Episodic Kinesigenic Dyskinesia 1 PIK3CB 5291 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta P42338
C4552000 Episodic Kinesigenic Dyskinesia 1 PIK3CG 5294 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma P48736
C4552000 Episodic Kinesigenic Dyskinesia 1 PKD1 5310 polycystin 1, transient receptor potential channel interacting P98161
C4552000 Episodic Kinesigenic Dyskinesia 1 PKD2 5311 polycystin 2, transient receptor potential cation channel Q13563
C4552000 Episodic Kinesigenic Dyskinesia 1 PTEN 5728 phosphatase and tensin homolog P60484
C4551995 Mitochondrial DNA Depletion Syndrome 1 TYMP 1890 thymidine phosphorylase P19971
C4551985 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 ENPP1 5167 ectonucleotide pyrophosphatase/phosphodiesterase 1 P22413
C4551984 Arthrogryposis with renal dysfunction and cholestasis syndrome GGT1 2678 gamma-glutamyltransferase 1 P19440
C4551982 TRICHOHEPATOENTERIC SYNDROME 1 AGK 55750 acylglycerol kinase Q53H12
C4551979 Nephronophthisis 1 ACE 1636 angiotensin I converting enzyme P12821
C4551979 Nephronophthisis 1 MLYCD 23417 malonyl-CoA decarboxylase O95822
C4551979 Nephronophthisis 1 STS 412 steroid sulfatase P08842
C4551979 Nephronophthisis 1 UMOD 7369 uromodulin P07911

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