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: 6658
Gene Symbol: SOX3
SOX3 		SRY-box transcription factor 3 0.535 0.731 0.45
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		disease 0.460 None 1.000 0 0 2005 2016
Entrez Id: 6658
Gene Symbol: SOX3
SOX3 		SRY-box transcription factor 3 0.535 0.731 0.45
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		disease 0.420 None 1.000 0 0 2007 2014
Entrez Id: 6658
Gene Symbol: SOX3
SOX3 		SRY-box transcription factor 3 0.535 0.731 0.45
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.200 None 1.000 0 0 2002 2019
Entrez Id: 6658
Gene Symbol: SOX3
SOX3 		SRY-box transcription factor 3 0.535 0.731 0.45
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		disease 0.170 None 1.000 0 0 2002 2018
Entrez Id: 6658
Gene Symbol: SOX3
SOX3 		SRY-box transcription factor 3 0.535 0.731 0.45
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		disease 0.150 None 1.000 0 0 2014 2018
Entrez Id: 6658
Gene Symbol: SOX3
SOX3 		SRY-box transcription factor 3 0.535 0.731 0.45
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		disease 0.150 None 1.000 0 0 2002 2015
Entrez Id: 6658
Gene Symbol: SOX3
SOX3 		SRY-box transcription factor 3 0.535 0.731 0.45
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.130 None 1.000 0 0 2001 2015
Entrez Id: 6658
Gene Symbol: SOX3
SOX3 		SRY-box transcription factor 3 0.535 0.731 0.45
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.120 None 1.000 0 0 2013 2014
Entrez Id: 6658
Gene Symbol: SOX3
SOX3 		SRY-box transcription factor 3 0.535 0.731 0.45
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.110 None 1.000 0 0 2002 2002
Entrez Id: 6658
Gene Symbol: SOX3
SOX3 		SRY-box transcription factor 3 0.535 0.731 0.45
CUI: C0028754
Disease: Obesity
Obesity 		disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 6658
Gene Symbol: SOX3
SOX3 		SRY-box transcription factor 3 0.535 0.731 0.45
CUI: C4021551
Disease: Absence of secondary sex characteristics
Absence of secondary sex characteristics 		phenotype 0.100 None 0 0
Entrez Id: 6658
Gene Symbol: SOX3
SOX3 		SRY-box transcription factor 3 0.535 0.731 0.45
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		group 0.100 None 0 0
Entrez Id: 6658
Gene Symbol: SOX3
SOX3 		SRY-box transcription factor 3 0.535 0.731 0.45
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		disease 0.100 None 0 0
Entrez Id: 6658
Gene Symbol: SOX3
SOX3 		SRY-box transcription factor 3 0.535 0.731 0.45
CUI: C4025170
Disease: Osteoporosis of vertebrae
Osteoporosis of vertebrae 		disease 0.100 None 0 0
Entrez Id: 6658
Gene Symbol: SOX3
SOX3 		SRY-box transcription factor 3 0.535 0.731 0.45
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype 0.100 None 0 0
Entrez Id: 6658
Gene Symbol: SOX3
SOX3 		SRY-box transcription factor 3 0.535 0.731 0.45
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis 		disease 0.100 None 0 0
Entrez Id: 6658
Gene Symbol: SOX3
SOX3 		SRY-box transcription factor 3 0.535 0.731 0.45
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 0
Entrez Id: 6658
Gene Symbol: SOX3
SOX3 		SRY-box transcription factor 3 0.535 0.731 0.45
CUI: C4025669
Disease: Decreased circulating ACTH level
Decreased circulating ACTH level 		phenotype 0.100 None 0 0
Entrez Id: 6658
Gene Symbol: SOX3
SOX3 		SRY-box transcription factor 3 0.535 0.731 0.45
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		disease 0.100 None 0 0
Entrez Id: 6658
Gene Symbol: SOX3
SOX3 		SRY-box transcription factor 3 0.535 0.731 0.45
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease 0.100 None 0 0
Entrez Id: 6658
Gene Symbol: SOX3
SOX3 		SRY-box transcription factor 3 0.535 0.731 0.45
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype 0.100 None 0 0
Entrez Id: 6658
Gene Symbol: SOX3
SOX3 		SRY-box transcription factor 3 0.535 0.731 0.45
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		phenotype 0.100 None 0 0
Entrez Id: 6658
Gene Symbol: SOX3
SOX3 		SRY-box transcription factor 3 0.535 0.731 0.45
CUI: C1859775
Disease: Anterior pituitary hypoplasia
Anterior pituitary hypoplasia 		phenotype 0.100 None 0 0
Entrez Id: 6658
Gene Symbol: SOX3
SOX3 		SRY-box transcription factor 3 0.535 0.731 0.45
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 6658
Gene Symbol: SOX3
SOX3 		SRY-box transcription factor 3 0.535 0.731 0.45
CUI: C4022448
Disease: Abnormal prolactin level
Abnormal prolactin level 		phenotype 0.100 None 0 0