GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
Disease: Heterotopic Ossification ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029396
Disease: Heterotopic Ossification
Heterotopic Ossification 		0.400 Biomarker phenotype CTD_human While most individuals with superficial or progressive ossification had mutations in GNAS, there were no specific genotype-phenotype correlations that distinguished the more progressive forms of HO (e.g., POH) from the non-progressive forms (osteoma cutis, AHO, and PHP1a/c). 18553568 2008
CUI: C0029396
Disease: Heterotopic Ossification
Heterotopic Ossification 		0.400 Biomarker phenotype HPO