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 54201 - 54225 of 62743 in total
Disease ID Disease Name ▲ Gene Symbol Gene ID Gene Name UniProt ID
C0342788 Renal carnitine transport defect SFTPD 6441 surfactant protein D P35247
C0342788 Renal carnitine transport defect SCD5 79966 stearoyl-CoA desaturase 5 Q86SK9
C0342788 Renal carnitine transport defect CPT1A 1374 carnitine palmitoyltransferase 1A P50416
C3887499 Renal cyst PIGT 51604 phosphatidylinositol glycan anchor biosynthesis class T Q969N2
C3887499 Renal cyst ALG8 79053 ALG8 alpha-1,3-glucosyltransferase Q9BVK2
C3887499 Renal cyst UGCG 7357 UDP-glucose ceramide glucosyltransferase Q16739
C3887499 Renal cyst PMM2 5373 phosphomannomutase 2 O15305
C3887499 Renal cyst PRKCSH 5589 protein kinase C substrate 80K-H P14314
C3887499 Renal cyst INPP5E 56623 inositol polyphosphate-5-phosphatase E Q9NRR6
C3887499 Renal cyst CEL 1056 carboxyl ester lipase P19835
C3887499 Renal cyst FH 2271 fumarate hydratase P07954
C3887499 Renal cyst PIK3CD 5293 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta O00329
C3887499 Renal cyst GPC3 2719 glypican 3 P51654
C3887499 Renal cyst PIK3CA 5290 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha P42336
C3887499 Renal cyst HSD17B1 3292 hydroxysteroid 17-beta dehydrogenase 1 P14061
C3887499 Renal cyst HSD17B4 3295 hydroxysteroid 17-beta dehydrogenase 4 P51659
C3887499 Renal cyst PIK3CB 5291 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta P42338
C3887499 Renal cyst PIK3CG 5294 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma P48736
C3887499 Renal cyst PKD1 5310 polycystin 1, transient receptor potential channel interacting P98161
C3887499 Renal cyst PKD2 5311 polycystin 2, transient receptor potential cation channel Q13563
C3887499 Renal cyst PTEN 5728 phosphatase and tensin homolog P60484
C1408247 Renal disease (acute) NOS KHK 3795 ketohexokinase P50053
C3536714 Renal dysplasia POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C3536714 Renal dysplasia FKTN 2218 fukutin O75072
C3536714 Renal dysplasia PIGN 23556 phosphatidylinositol glycan anchor biosynthesis class N O95427

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Last updated: August 19, 2024