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: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C0017601
Disease: Glaucoma
Glaucoma 		disease 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C0345030
Disease: Peripheral pulmonary artery stenosis
Peripheral pulmonary artery stenosis 		disease 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C0020608
Disease: Hypodontia
Hypodontia 		disease 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C0024421
Disease: Macroglossia
Macroglossia 		disease 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C0856748
Disease: Aneurysm of aortic arch
Aneurysm of aortic arch 		disease 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		disease 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C0027092
Disease: Myopia
Myopia 		disease 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C0029453
Disease: Osteopenia
Osteopenia 		disease 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		disease 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C0034888
Disease: Rectal Prolapse
Rectal Prolapse 		disease 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		disease 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		disease 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		disease 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C0086543
Disease: Cataract
Cataract 		disease 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C0152421
Disease: Macrotia
Macrotia 		disease 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		disease 0.110 None 1.000 0 0 2000 2000
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C0221209
Disease: Pelvic kidney
Pelvic kidney 		disease 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		disease 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		disease 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology 		disease 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C0262655
Disease: Recurrent urinary tract infection
Recurrent urinary tract infection 		disease 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C4025788
Disease: Nystagmus-induced head nodding
Nystagmus-induced head nodding 		disease 0.100 None 0 0