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: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		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: 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: 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: C1845847
Disease: Coarse facial features
Coarse facial features 		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: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		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: C0034880
Disease: Hyperacusis
Hyperacusis 		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: C1856872
Disease: Down-sloping shoulders
Down-sloping shoulders 		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: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		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: C0041974
Disease: Urethral Stenosis
Urethral Stenosis 		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: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		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: C0086437
Disease: Joint laxity
Joint laxity 		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: C0151889
Disease: Hyperreflexia
Hyperreflexia 		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: C4021662
Disease: Abnormal endocardium morphology
Abnormal endocardium morphology 		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: C0162298
Disease: Joint stiffness
Joint stiffness 		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: C4022386
Disease: Overfriendliness
Overfriendliness 		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: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		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: C4024897
Disease: Atrophy/Degeneration involving the corticospinal tracts
Atrophy/Degeneration involving the corticospinal tracts 		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: C0009806
Disease: Constipation
Constipation 		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: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		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: C4553313
Disease: Periorbital Edema, CTCAE
Periorbital Edema, CTCAE 		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: C0018800
Disease: Cardiomegaly
Cardiomegaly 		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: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		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: C0024003
Disease: Lordosis
Lordosis 		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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0