HPD, 4-hydroxyphenylpyruvate dioxygenase, 3242

N. diseases: 102; N. variants: 9
Disease: Pallister-Hall syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.020 Biomarker disease BEFREE Our findings fully support previous genotype-phenotype correlations, showing that exonic deletions, missense mutations, as well as truncating variants localised out of the middle third of the GLI3 gene result in GCPS/PPD-IV and not PHS. 22903559 2012
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.020 GeneticVariation disease BEFREE We studied the involvement of GLI3 in additional phenotypes of digital abnormalities in one family (UR003) with preaxial polydactyly type-IV (PPD-IV), three families (UR014, UR015, and UR016) with dominant PAP-A/B (with PPD-A and -B in the same family), and one family with PHS. 10441570 1999