Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs573518562
rs573518562
Entrez Id: 10103;55624
Gene Symbol: TSPAN1;POMGNT1
TSPAN1;POMGNT1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa. 27391550 2016
dbSNP: rs573518562
rs573518562
Entrez Id: 10103;55624
Gene Symbol: TSPAN1;POMGNT1
TSPAN1;POMGNT1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. 26908613 2016
dbSNP: rs573518562
rs573518562
Entrez Id: 10103;55624
Gene Symbol: TSPAN1;POMGNT1
TSPAN1;POMGNT1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR 160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome. 24120487 2013
dbSNP: rs573518562
rs573518562
Entrez Id: 10103;55624
Gene Symbol: TSPAN1;POMGNT1
TSPAN1;POMGNT1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O. 22419172 2012
dbSNP: rs573518562
rs573518562
Entrez Id: 10103;55624
Gene Symbol: TSPAN1;POMGNT1
TSPAN1;POMGNT1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. 18195152 2008
dbSNP: rs573518562
rs573518562
Entrez Id: 10103;55624
Gene Symbol: TSPAN1;POMGNT1
TSPAN1;POMGNT1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 17878207 2007