POC1A, POC1 centriolar protein A, 25886

N. diseases: 59; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514488
rs397514488
Entrez Id: 25886
Gene Symbol: POC1A
POC1A
CUI: C3542022
Disease:
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME 		0.800 GeneticVariation UNIPROT POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism. 22840364 2012
dbSNP: rs397514488
rs397514488
Entrez Id: 25886
Gene Symbol: POC1A
POC1A
CUI: C3542022
Disease:
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME 		0.800 GeneticVariation UNIPROT Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation. 22840363 2012
dbSNP: rs397514488
rs397514488
Entrez Id: 25886
Gene Symbol: POC1A
POC1A
CUI: C3542022
Disease:
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME 		G 0.800 CausalMutation CLINVAR
dbSNP: rs397514487
rs397514487
Entrez Id: 25886
Gene Symbol: POC1A
POC1A
CUI: C0013336
Disease:
Dwarfism 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs397514487
rs397514487
Entrez Id: 25886
Gene Symbol: POC1A
POC1A
CUI: C0342573
Disease:
PITUITARY DWARFISM I 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs397514487
rs397514487
Entrez Id: 25886
Gene Symbol: POC1A
POC1A
CUI: C3542022
Disease:
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME 		A 0.700 CausalMutation CLINVAR
dbSNP: rs918352190
rs918352190
Entrez Id: 25886
Gene Symbol: POC1A
POC1A
CUI: C3542022
Disease:
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME 		A 0.700 GeneticVariation CLINVAR