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: C0011581
Disease: Depressive disorder
Depressive disorder 		disease 0.110 None 1.000 0 0 2019 2019
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: C1843517
Disease: Retinal arteriolar tortuosity
Retinal arteriolar tortuosity 		phenotype 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C0917798
Disease: Cerebral Ischemia
Cerebral Ischemia 		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: C0751466
Disease: Phonophobia
Phonophobia 		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: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		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: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior 		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: C0581342
Disease: Redundant skin
Redundant skin 		phenotype 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding) 		phenotype 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		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: C0917801
Disease: Sleeplessness
Sleeplessness 		phenotype 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		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: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		phenotype 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		phenotype 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C1837463
Disease: Narrow face
Narrow face 		phenotype 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails 		phenotype 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: C1836150
Disease: Gait imbalance
Gait imbalance 		phenotype 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		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: C1527344
Disease: Dysphonia
Dysphonia 		phenotype 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: C0546967
Disease: Posterior embryotoxon
Posterior embryotoxon 		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: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern 		disease 0.100 None 0 0