HHIP, hedgehog interacting protein, 64399

N. diseases: 122; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
0.010 Biomarker disease BEFREE We directly sequenced the coding regions and exon - intron boundaries of SHH and HHIP in 93 CPHD patients of the Dutch HYPOPIT study in whom mutations in the classical CPHD genes PROP1, POU1F1, HESX1, LHX3 and LHX4 had been ruled out. 22897141 2013