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 57426 - 57450 of 62743 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C1800706 Idiopathic Pulmonary Fibrosis L1CAM 3897 L1 cell adhesion molecule P32004
C1800706 Idiopathic Pulmonary Fibrosis ENPP2 5168 ectonucleotide pyrophosphatase/phosphodiesterase 2 Q13822
C1800706 Idiopathic Pulmonary Fibrosis PIK3CB 5291 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta P42338
C1800706 Idiopathic Pulmonary Fibrosis PIK3CG 5294 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma P48736
C1800706 Idiopathic Pulmonary Fibrosis PKD1 5310 polycystin 1, transient receptor potential channel interacting P98161
C1800706 Idiopathic Pulmonary Fibrosis PKD2 5311 polycystin 2, transient receptor potential cation channel Q13563
C1800706 Idiopathic Pulmonary Fibrosis PRKAA2 5563 protein kinase AMP-activated catalytic subunit alpha 2 P54646
C1800706 Idiopathic Pulmonary Fibrosis PTEN 5728 phosphatase and tensin homolog P60484
C1800706 Idiopathic Pulmonary Fibrosis PTGS2 5743 prostaglandin-endoperoxide synthase 2 P35354
C1800706 Idiopathic Pulmonary Fibrosis SFTPC 6440 surfactant protein C P11686
C1800706 Idiopathic Pulmonary Fibrosis SHMT2 6472 serine hydroxymethyltransferase 2 P34897
C1800706 Idiopathic Pulmonary Fibrosis SOAT1 6646 sterol O-acyltransferase 1 P35610
C1802395 Congenital muscular hypertrophy-cerebral syndrome SMC3 9126 structural maintenance of chromosomes 3 Q9UQE7
C1829703 Carnitine palmitoyl transferase 1A deficiency CPT2 1376 carnitine palmitoyltransferase 2 P23786
C1829703 Carnitine palmitoyl transferase 1A deficiency CPT1A 1374 carnitine palmitoyltransferase 1A P50416
C1832174 DOYNE HONEYCOMB RETINAL DYSTROPHY RPE 6120 ribulose-5-phosphate-3-epimerase Q96AT9
C1832187 Deafness, Autosomal Dominant 12 TECTA 7007 tectorin alpha O75443
C1832229 Rieger syndrome 2 (disorder) SULT1E1 6783 sulfotransferase family 1E member 1 P49888
C1832232 Peroxisome Biogenesis Disorder, Complementation Group C CYP17A1 1586 cytochrome P450 family 17 subfamily A member 1 P05093
C1832321 INFLAMMATORY BOWEL DISEASE 2 GALM 130589 galactose mutarotase Q96C23
C1832370 MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED SDHB 6390 succinate dehydrogenase complex iron sulfur subunit B P21912
C1832370 MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED SORD 6652 sorbitol dehydrogenase Q00796
C1832370 MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED MTM1 4534 myotubularin 1 Q13496
C1832399 Charcot-Marie-Tooth disease, Type 4B1 MTM1 4534 myotubularin 1 Q13496
C1832399 Charcot-Marie-Tooth disease, Type 4B1 MTMR2 8898 myotubularin related protein 2 Q13614

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