POC1A, POC1 centriolar protein A, 25886

N. diseases: 59; N. variants: 3
Disease: PITUITARY DWARFISM I ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		0.440 GeneticVariation disease BEFREE Using a custom-designed Next-generation sequencing skeletal dysplasia panel, we have identified two novel homozygous POC1A mutations in two individuals with primordial dwarfism. 26374189 2016
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		0.440 Biomarker disease GENOMICS_ENGLAND SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation. 26791357 2016
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		0.440 GeneticVariation disease BEFREE Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis. 26162852 2015
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		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: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		0.440 GeneticVariation disease BEFREE POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism. 22840364 2012
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		0.440 GeneticVariation disease CLINVAR