Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.400 strong 1.000 2 0 2014 2019
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 strong 1.000 2 0 2014 2019
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.400 strong 1.000 2 0 2014 2019
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C0037315
Disease: Sleep Apnea Syndromes
Sleep Apnea Syndromes 		disease 0.400 strong 1.000 1 0 2014 2014
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C3203358
Disease: Hypoventilation
Hypoventilation 		phenotype 0.400 strong 1.000 1 0 2014 2014
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		disease 0.300 strong 1.000 1 0 2014 2014
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.300 strong 1.000 1 0 2014 2014
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		phenotype 0.300 strong 1.000 1 0 2014 2014
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.300 strong 1.000 1 0 2014 2014