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: 84295
Gene Symbol: PHF6
PHF6 		PHD finger protein 6 0.581 0.692 1.00
CUI: C0028754
Disease: Obesity
Obesity 		disease 0.410 strong 1.000 0 0 2007 2007
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		PHD finger protein 6 0.581 0.692 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.160 None 1.000 0 0 2007 2018
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		PHD finger protein 6 0.581 0.692 1.00
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.110 None 1.000 0 0 2016 2016
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		PHD finger protein 6 0.581 0.692 1.00
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.110 None 1.000 0 0 2002 2002
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		PHD finger protein 6 0.581 0.692 1.00
CUI: C0018418
Disease: Gynecomastia
Gynecomastia 		disease 0.110 None 1.000 0 0 2002 2002
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		PHD finger protein 6 0.581 0.692 1.00
CUI: C4551560
Disease: Truncal obesity
Truncal obesity 		phenotype 0.100 None 0 0
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		PHD finger protein 6 0.581 0.692 1.00
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		PHD finger protein 6 0.581 0.692 1.00
CUI: C1866241
Disease: Broad foot
Broad foot 		phenotype 0.100 None 0 0
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		PHD finger protein 6 0.581 0.692 1.00
CUI: C1858452
Disease: Thickened calvaria
Thickened calvaria 		phenotype 0.100 None 0 0
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		PHD finger protein 6 0.581 0.692 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		PHD finger protein 6 0.581 0.692 1.00
CUI: C1856912
Disease: Shortening of all middle phalanges of the fingers
Shortening of all middle phalanges of the fingers 		phenotype 0.100 None 0 0
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		PHD finger protein 6 0.581 0.692 1.00
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		phenotype 0.100 None 0 0
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		PHD finger protein 6 0.581 0.692 1.00
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 0.100 None 0 0
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		PHD finger protein 6 0.581 0.692 1.00
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 0
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		PHD finger protein 6 0.581 0.692 1.00
CUI: C1844926
Disease: Scheuermann-like vertebral changes
Scheuermann-like vertebral changes 		phenotype 0.100 None 0 0
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		PHD finger protein 6 0.581 0.692 1.00
CUI: C1844925
Disease: Cervical spinal canal stenosis
Cervical spinal canal stenosis 		phenotype 0.100 None 0 0
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		PHD finger protein 6 0.581 0.692 1.00
CUI: C1844923
Disease: Hypoplasia of the prostate
Hypoplasia of the prostate 		phenotype 0.100 None 0 0
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		PHD finger protein 6 0.581 0.692 1.00
CUI: C1969238
Disease: Widely spaced toes
Widely spaced toes 		phenotype 0.100 None 0 0
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		PHD finger protein 6 0.581 0.692 1.00
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		phenotype 0.100 None 0 0
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		PHD finger protein 6 0.581 0.692 1.00
CUI: C4021813
Disease: Oral cleft
Oral cleft 		disease 0.100 None 0 0
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		PHD finger protein 6 0.581 0.692 1.00
CUI: C4021774
Disease: Camptodactyly of toe
Camptodactyly of toe 		disease 0.100 None 0 0
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		PHD finger protein 6 0.581 0.692 1.00
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease 0.100 None 0 0
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		PHD finger protein 6 0.581 0.692 1.00
CUI: C4021608
Disease: Shortening of all distal phalanges of the fingers
Shortening of all distal phalanges of the fingers 		phenotype 0.100 None 0 0
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		PHD finger protein 6 0.581 0.692 1.00
CUI: C4551838
Disease: Talipes transversoplanus
Talipes transversoplanus 		disease 0.100 None 0 0
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		PHD finger protein 6 0.581 0.692 1.00
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype 0.100 None 0 0