POC1A, POC1 centriolar protein A, 25886

N. diseases: 59; N. variants: 3
Disease: Dwarfism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.440 Biomarker disease GENOMICS_ENGLAND SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation. 26791357 2016
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.440 GeneticVariation disease BEFREE Our findings confirm that POC1A mutations cause SOFT syndrome and that mutations in this gene should be considered in patients with severe pre- and postnatal short stature, symmetric shortening of long bones, triangular facies, sparse hair and short, thickened distal phalanges. 26374189 2016
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.440 GeneticVariation disease BEFREE Three homozygous mutations affecting all isoforms of POC1A have recently been implicated in a similar syndrome of primordial dwarfism, although no detailed metabolic phenotypes were described. 26336158 2015
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.440 GeneticVariation disease BEFREE Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis. 26162852 2015
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.440 GeneticVariation disease BEFREE POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism. 22840364 2012
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.440 GeneticVariation disease CLINVAR