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: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C1863351
Disease: Calvarial hyperostosis
Calvarial hyperostosis 		phenotype 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C1863411
Disease: Retinal hamartoma
Retinal hamartoma 		disease 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		group 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C3714644
Disease: Thymus Neoplasms
Thymus Neoplasms 		group 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina 		disease 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C3272802
Disease: Hamartomatous polyposis
Hamartomatous polyposis 		disease 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		disease 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C1969913
Disease: Generalized hyperkeratosis
Generalized hyperkeratosis 		phenotype 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C1867617
Disease: Hypertrophy of skin of soles
Hypertrophy of skin of soles 		phenotype 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C1866986
Disease: Social and occupational deterioration
Social and occupational deterioration 		phenotype 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C1855204
Disease: Cellular immunodeficiency
Cellular immunodeficiency 		phenotype 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0239998
Disease: Recurrent infections
Recurrent infections 		phenotype 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0037205
Disease: Sirenomelia
Sirenomelia 		disease 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0024421
Disease: Macroglossia
Macroglossia 		disease 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0024221
Disease: Lymphangioma
Lymphangioma 		disease 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0023798
Disease: Lipoma
Lipoma 		disease 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0023221
Disease: Leg Length Inequality
Leg Length Inequality 		phenotype 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		phenotype 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0022596
Disease: Palmoplantar Keratosis
Palmoplantar Keratosis 		disease 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0026034
Disease: Microstomia
Microstomia 		disease 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease 0.100 None 0 0