Gene: P3H1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64175
Gene Symbol: P3H1
P3H1 		0.310 GermlineCausalMutation disease ORPHANET Nosology and classification of genetic skeletal disorders: 2010 revision. 21438135 2011
Entrez Id: 64175
Gene Symbol: P3H1
P3H1 		0.310 GeneticVariation disease BEFREE In three samples without collagen mutations, we found inactivating mutations in CRTAP and LEPRE1, suggesting a frequency of these recessive mutations of approximately 5% in OI type II. 18996919 2009