Source: HPO

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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.400 strong 1.000 0 0 2014 2019
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 0 0 2014 2014
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 0 0 2014 2014
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 0 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 0 0 2014 2019
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C0002418
Disease: Amblyopia
Amblyopia 		phenotype 0.100 None 0 0
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		disease 0.100 None 0 0
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		disease 0.100 None 0 0
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C0574974
Disease: Finger joint hypermobility
Finger joint hypermobility 		phenotype 0.100 None 0 0
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		disease 0.100 None 0 0
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		phenotype 0.100 None 0 0
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 0
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C3810365
Disease: Central visual impairment
Central visual impairment 		disease 0.100 None 0 0
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C0271388
Disease: Pendular Nystagmus
Pendular Nystagmus 		disease 0.100 None 0 0
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk 		phenotype 0.100 None 0 0
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C0004106
Disease: Astigmatism
Astigmatism 		disease 0.100 None 0 0
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C0009806
Disease: Constipation
Constipation 		phenotype 0.100 None 0 0
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C0015310
Disease: Exotropia
Exotropia 		disease 0.100 None 0 0
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C0015967
Disease: Fever
Fever 		phenotype 0.100 None 0 0
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C0020490
Disease: Hyperopia
Hyperopia 		disease 0.100 None 0 0
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C0020672
Disease: Hypothermia, natural
Hypothermia, natural 		phenotype 0.100 None 0 0
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		phenotype 0.100 None 0 0
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		prolyl 4-hydroxylase, transmembrane 0.666 0.500 3.9E-09
CUI: C0027092
Disease: Myopia
Myopia 		disease 0.100 None 0 0