Gene: P4HTM ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		0.400 Biomarker disease 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 		0.400 Biomarker disease GENOMICS_ENGLAND Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome. 25078763 2014
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		0.400 Biomarker disease HPO