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: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0856748
Disease: Aneurysm of aortic arch
Aneurysm of aortic arch 		disease 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0029453
Disease: Osteopenia
Osteopenia 		disease 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0033377
Disease: Ptosis
Ptosis 		disease 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1389851
Disease: Parathyroid hypoplasia
Parathyroid hypoplasia 		disease 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease 0.110 None 1.000 0 0 2007 2007
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		disease 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		disease 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		disease 0.110 None 1.000 0 0 1991 1991
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		disease 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		disease 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0155552
Disease: Hearing Loss, Mixed Conductive-Sensorineural
Hearing Loss, Mixed Conductive-Sensorineural 		disease 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		disease 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease 0.110 None 1.000 0 0 2000 2000
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		disease 0.130 None 1.000 0 0 1996 2006
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis 		disease 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0011606
Disease: Exfoliative dermatitis
Exfoliative dermatitis 		disease 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0242350
Disease: Erectile dysfunction
Erectile dysfunction 		disease 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0013362
Disease: Dysarthria
Dysarthria 		disease 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		disease 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		disease 0.120 None 1.000 0 0 2010 2011
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		disease 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density 		disease 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0266614
Disease: Bat ear
Bat ear 		disease 0.100 None 0 0