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: 64175
Gene Symbol: P3H1
P3H1 		prolyl 3-hydroxylase 1 0.736 0.231 2.3E-20
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		disease 0.100 None 0 0
Entrez Id: 64175
Gene Symbol: P3H1
P3H1 		prolyl 3-hydroxylase 1 0.736 0.231 2.3E-20
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		phenotype 0.100 None 0 0
Entrez Id: 64175
Gene Symbol: P3H1
P3H1 		prolyl 3-hydroxylase 1 0.736 0.231 2.3E-20
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		phenotype 0.100 None 0 0
Entrez Id: 64175
Gene Symbol: P3H1
P3H1 		prolyl 3-hydroxylase 1 0.736 0.231 2.3E-20
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		phenotype 0.100 None 0 0
Entrez Id: 64175
Gene Symbol: P3H1
P3H1 		prolyl 3-hydroxylase 1 0.736 0.231 2.3E-20
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		phenotype 0.100 None 0 0
Entrez Id: 64175
Gene Symbol: P3H1
P3H1 		prolyl 3-hydroxylase 1 0.736 0.231 2.3E-20
CUI: C1853171
Disease: Multiple prenatal fractures
Multiple prenatal fractures 		phenotype 0.100 None 0 0
Entrez Id: 64175
Gene Symbol: P3H1
P3H1 		prolyl 3-hydroxylase 1 0.736 0.231 2.3E-20
CUI: C1859399
Disease: Radial bowing
Radial bowing 		phenotype 0.100 None 0 0
Entrez Id: 64175
Gene Symbol: P3H1
P3H1 		prolyl 3-hydroxylase 1 0.736 0.231 2.3E-20
CUI: C1859461
Disease: Femoral bowing
Femoral bowing 		phenotype 0.100 None 0 0
Entrez Id: 64175
Gene Symbol: P3H1
P3H1 		prolyl 3-hydroxylase 1 0.736 0.231 2.3E-20
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		phenotype 0.100 None 0 0
Entrez Id: 64175
Gene Symbol: P3H1
P3H1 		prolyl 3-hydroxylase 1 0.736 0.231 2.3E-20
CUI: C1970461
Disease: Externally rotated/abducted legs
Externally rotated/abducted legs 		phenotype 0.100 None 0 0
Entrez Id: 64175
Gene Symbol: P3H1
P3H1 		prolyl 3-hydroxylase 1 0.736 0.231 2.3E-20
CUI: C1970463
Disease: Type 1 collagen overmodification
Type 1 collagen overmodification 		phenotype 0.100 None 0 0
Entrez Id: 64175
Gene Symbol: P3H1
P3H1 		prolyl 3-hydroxylase 1 0.736 0.231 2.3E-20
CUI: C1833144
Disease: Slender long bone
Slender long bone 		phenotype 0.100 None 0 0
Entrez Id: 64175
Gene Symbol: P3H1
P3H1 		prolyl 3-hydroxylase 1 0.736 0.231 2.3E-20
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 64175
Gene Symbol: P3H1
P3H1 		prolyl 3-hydroxylase 1 0.736 0.231 2.3E-20
CUI: C0432073
Disease: Defect of skull ossification
Defect of skull ossification 		group 0.100 None 0 0
Entrez Id: 64175
Gene Symbol: P3H1
P3H1 		prolyl 3-hydroxylase 1 0.736 0.231 2.3E-20
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		phenotype 0.100 None 0 0
Entrez Id: 64175
Gene Symbol: P3H1
P3H1 		prolyl 3-hydroxylase 1 0.736 0.231 2.3E-20
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		phenotype 0.100 None 0 0
Entrez Id: 64175
Gene Symbol: P3H1
P3H1 		prolyl 3-hydroxylase 1 0.736 0.231 2.3E-20
CUI: C0029453
Disease: Osteopenia
Osteopenia 		disease 0.100 None 0 0
Entrez Id: 64175
Gene Symbol: P3H1
P3H1 		prolyl 3-hydroxylase 1 0.736 0.231 2.3E-20
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease 0.100 None 0 0
Entrez Id: 64175
Gene Symbol: P3H1
P3H1 		prolyl 3-hydroxylase 1 0.736 0.231 2.3E-20
CUI: C0086437
Disease: Joint laxity
Joint laxity 		phenotype 0.100 None 0 0
Entrez Id: 64175
Gene Symbol: P3H1
P3H1 		prolyl 3-hydroxylase 1 0.736 0.231 2.3E-20
CUI: C0239479
Disease: Round face
Round face 		phenotype 0.100 None 0 0
Entrez Id: 64175
Gene Symbol: P3H1
P3H1 		prolyl 3-hydroxylase 1 0.736 0.231 2.3E-20
CUI: C0262431
Disease: Compression fracture of vertebral column
Compression fracture of vertebral column 		phenotype 0.100 None 0 0
Entrez Id: 64175
Gene Symbol: P3H1
P3H1 		prolyl 3-hydroxylase 1 0.736 0.231 2.3E-20
CUI: C0264172
Disease: Barrel chest
Barrel chest 		phenotype 0.100 None 0 0
Entrez Id: 64175
Gene Symbol: P3H1
P3H1 		prolyl 3-hydroxylase 1 0.736 0.231 2.3E-20
CUI: C0277828
Disease: Late fontanel closure
Late fontanel closure 		phenotype 0.100 None 0 0
Entrez Id: 64175
Gene Symbol: P3H1
P3H1 		prolyl 3-hydroxylase 1 0.736 0.231 2.3E-20
CUI: C0426818
Disease: Thin rib
Thin rib 		phenotype 0.100 None 0 0
Entrez Id: 64175
Gene Symbol: P3H1
P3H1 		prolyl 3-hydroxylase 1 0.736 0.231 2.3E-20
CUI: C3805574
Disease: Increased fracture rate
Increased fracture rate 		phenotype 0.100 None 0 0