Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker GENOMICS_ENGLAND Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome). 30940925

2019
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker GENOMICS_ENGLAND Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome. 25078763

2014