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: 5449
Gene Symbol: POU1F1
POU1F1 		POU class 1 homeobox 1 0.548 0.654 4.5E-02
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		disease 0.450 None 1.000 0 0 1997 2016
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		POU class 1 homeobox 1 0.548 0.654 4.5E-02
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease 0.180 None 1.000 0 0 1995 2011
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		POU class 1 homeobox 1 0.548 0.654 4.5E-02
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism 		disease 0.160 None 1.000 0 0 1998 2017
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		POU class 1 homeobox 1 0.548 0.654 4.5E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.150 None 0.800 0 0 1992 2010
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		POU class 1 homeobox 1 0.548 0.654 4.5E-02
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism 		disease 0.130 None 1.000 0 0 1998 2007
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		POU class 1 homeobox 1 0.548 0.654 4.5E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.110 None 1.000 0 0 2006 2006
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		POU class 1 homeobox 1 0.548 0.654 4.5E-02
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		disease 0.110 None 1.000 0 0 2005 2005
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		POU class 1 homeobox 1 0.548 0.654 4.5E-02
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 0
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		POU class 1 homeobox 1 0.548 0.654 4.5E-02
CUI: C1859236
Disease: Prolonged neonatal jaundice
Prolonged neonatal jaundice 		phenotype 0.100 None 0 0
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		POU class 1 homeobox 1 0.548 0.654 4.5E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		POU class 1 homeobox 1 0.548 0.654 4.5E-02
CUI: C1858085
Disease: Malar flattening
Malar flattening 		disease 0.100 None 0 0
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		POU class 1 homeobox 1 0.548 0.654 4.5E-02
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 0
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		POU class 1 homeobox 1 0.548 0.654 4.5E-02
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		POU class 1 homeobox 1 0.548 0.654 4.5E-02
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		phenotype 0.100 None 0 0
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		POU class 1 homeobox 1 0.548 0.654 4.5E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 0 0
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		POU class 1 homeobox 1 0.548 0.654 4.5E-02
CUI: C1854114
Disease: Short nose
Short nose 		phenotype 0.100 None 0 0
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		POU class 1 homeobox 1 0.548 0.654 4.5E-02
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		phenotype 0.100 None 0 0
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		POU class 1 homeobox 1 0.548 0.654 4.5E-02
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		phenotype 0.100 None 0 0
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		POU class 1 homeobox 1 0.548 0.654 4.5E-02
CUI: C1859692
Disease: Decreased cervical spine mobility
Decreased cervical spine mobility 		phenotype 0.100 None 0 0
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		POU class 1 homeobox 1 0.548 0.654 4.5E-02
CUI: C1859775
Disease: Anterior pituitary hypoplasia
Anterior pituitary hypoplasia 		phenotype 0.100 None 0 0
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		POU class 1 homeobox 1 0.548 0.654 4.5E-02
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		disease 0.100 None 0 0
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		POU class 1 homeobox 1 0.548 0.654 4.5E-02
CUI: C4025669
Disease: Decreased circulating ACTH level
Decreased circulating ACTH level 		phenotype 0.100 None 0 0
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		POU class 1 homeobox 1 0.548 0.654 4.5E-02
CUI: C4025170
Disease: Osteoporosis of vertebrae
Osteoporosis of vertebrae 		disease 0.100 None 0 0
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		POU class 1 homeobox 1 0.548 0.654 4.5E-02
CUI: C4024171
Disease: Abnormality of secondary sexual hair
Abnormality of secondary sexual hair 		disease 0.100 None 0 0
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		POU class 1 homeobox 1 0.548 0.654 4.5E-02
CUI: C4023911
Disease: Aplasia/Hypoplasia of the breasts
Aplasia/Hypoplasia of the breasts 		phenotype 0.100 None 0 0