SKIV2L, Ski2 like RNA helicase, 6499

N. diseases: 96; N. variants: 24
Disease: TRICHOHEPATOENTERIC SYNDROME 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3281289
Disease: TRICHOHEPATOENTERIC SYNDROME 2
TRICHOHEPATOENTERIC SYNDROME 2 		0.600 Biomarker disease GENOMICS_ENGLAND Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature. 28944135 2017
CUI: C3281289
Disease: TRICHOHEPATOENTERIC SYNDROME 2
TRICHOHEPATOENTERIC SYNDROME 2 		0.600 Biomarker disease GENOMICS_ENGLAND Identification of Variants in Genes Associated with Single-gene Inflammatory Bowel Disease by Whole-exome Sequencing. 27537055 2016
CUI: C3281289
Disease: TRICHOHEPATOENTERIC SYNDROME 2
TRICHOHEPATOENTERIC SYNDROME 2 		0.600 Biomarker disease GENOMICS_ENGLAND Identification of Variants in Genes Associated with Single-gene Inflammatory Bowel Disease by Whole-exome Sequencing. 27537055 2016
CUI: C3281289
Disease: TRICHOHEPATOENTERIC SYNDROME 2
TRICHOHEPATOENTERIC SYNDROME 2 		0.600 GeneticVariation disease UNIPROT SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome. 22444670 2012
CUI: C3281289
Disease: TRICHOHEPATOENTERIC SYNDROME 2
TRICHOHEPATOENTERIC SYNDROME 2 		0.600 GeneticVariation disease CLINVAR
CUI: C3281289
Disease: TRICHOHEPATOENTERIC SYNDROME 2
TRICHOHEPATOENTERIC SYNDROME 2 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3281289
Disease: TRICHOHEPATOENTERIC SYNDROME 2
TRICHOHEPATOENTERIC SYNDROME 2 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3281289
Disease: TRICHOHEPATOENTERIC SYNDROME 2
TRICHOHEPATOENTERIC SYNDROME 2 		0.600 CausalMutation disease CLINVAR