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: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		group 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		group 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C0026848
Disease: Myopathy
Myopathy 		group 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C0266623
Disease: Congenital anomaly of neck
Congenital anomaly of neck 		group 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		group 0.100 None 0 0
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		group 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