SKIV2L, Ski2 like RNA helicase, 6499

N. diseases: 96; N. variants: 24
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.670 GeneticVariation disease BEFREE We identified an autosomal recessive C.1891G > A missense mutation (NM_006929) in SKIV2L gene that was previously described only in a compound heterozygous state as causing THE syndrome. 29484573 2018
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.670 GeneticVariation disease BEFREE Tricho-Hepato-Enteric syndrome (THES) is a very rare autosomal recessive syndromic enteropathy caused by mutations of either TTC37 or SKIV2L genes. 29527791 2018
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.670 GeneticVariation disease BEFREE Tricho-hepato-enteric syndrome with novel SKIV2L gene mutations: A case report. 29145277 2017
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.670 Biomarker disease GENOMICS_ENGLAND Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare disease linked to the loss of function of either TTC37 or SKIV2L, two components of the SKI complex. 28944135 2017
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.670 GeneticVariation disease BEFREE The present study was the first, to the best of our knowledge, to report a case of a boy with THES resulting from compound heterozygous mutations of the SKIV2L gene in China. 27431780 2016
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.670 Biomarker disease BEFREE We reported three point mutations, which have not been previously described in other patients with THES in SKIV2L and TTC37 genes, including one nonsense, one frameshift, and one missense mutations. 27050310 2016
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.670 GeneticVariation disease BEFREE We describe the molecular genetic basis of tricho-hepato-enteric syndrome in patients from Saudi Arabia with novel mutations of SKIV2L (c.3559_3579del, p.1187_1193del) and TTC37 (C4102T, p.Q1368X). 25714577 2015
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.670 GermlineCausalMutation disease ORPHANET Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or in TTC37, 2 genes encoding subunits of the putative human SKI complex. 23302111 2013
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.670 GermlineCausalMutation disease ORPHANET Considering the fact that TTC37 is homologous to Ski3p, we explored a gene encoding another Ski-complex cofactor, SKIV2L, in six individuals presenting with typical syndromic diarrhea without variation in TTC37. 22444670 2012
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.670 Biomarker disease BEFREE Considering the fact that TTC37 is homologous to Ski3p, we explored a gene encoding another Ski-complex cofactor, SKIV2L, in six individuals presenting with typical syndromic diarrhea without variation in TTC37. 22444670 2012
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.670 Biomarker disease CTD_human
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
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.310 Biomarker disease BEFREE Importantly, the blockage of the SPHK1/STAT3 signaling pathway by SKI-II or AG490 could reverse the TRIM14-promoted CRC cell migration and invasion. 30555277 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.310 GeneticVariation disease UNIPROT
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		0.300 Biomarker group GENOMICS_ENGLAND Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature. 28944135 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.300 GeneticVariation disease UNIPROT
CUI: C3810089
Disease: MEMORY QUANTITATIVE TRAIT LOCUS
MEMORY QUANTITATIVE TRAIT LOCUS 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.190 Biomarker disease BEFREE We identified four previously reported susceptibility loci showing genome-wide significant association with AMD progression: ARMS2-HTRA1 (P = 8.1 × 10-43), CFH (P = 3.5 × 10-37), C2-CFB-SKIV2L (P = 8.1 × 10-10) and C3 (P = 1.2 × 10-9). 29346644 2018