rs1555575860, COG4

N. diseases: 31
Disease: SAUL-WILSON SYNDROME ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SAUL-WILSON SYNDROME
CUI: C1300285
Disease: SAUL-WILSON SYNDROME
0.800 GeneticVariation UNIPROT A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. 30290151 2018
SAUL-WILSON SYNDROME
CUI: C1300285
Disease: SAUL-WILSON SYNDROME
0.800 CausalMutation CLINVAR A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. 30290151 2018
SAUL-WILSON SYNDROME
CUI: C1300285
Disease: SAUL-WILSON SYNDROME
0.800 CausalMutation CLINVAR