ZNF711, zinc finger protein 711, 7552

N. diseases: 52; N. variants: 9
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1060505033
rs1060505033 		1.000 0.200 X 85264383 missense variant T/C snv
CUI: C2749020
Disease: Mental Retardation, X-Linked, Znf711-Related
Mental Retardation, X-Linked, Znf711-Related 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 2 2009 2017
dbSNP: rs1555970404
rs1555970404 		0.882 0.200 X 85255275 frameshift variant -/A delins
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2009 2017
dbSNP: rs1555970404
rs1555970404 		0.882 0.200 X 85255275 frameshift variant -/A delins
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.700 1.000 2 2009 2017
dbSNP: rs1555970404
rs1555970404 		0.882 0.200 X 85255275 frameshift variant -/A delins
CUI: C2749020
Disease: Mental Retardation, X-Linked, Znf711-Related
Mental Retardation, X-Linked, Znf711-Related 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2009 2017
dbSNP: rs367654949
rs367654949 		1.000 0.200 X 85255595 missense variant G/A;C snv 4.9E-05; 5.5E-06
CUI: C2749020
Disease: Mental Retardation, X-Linked, Znf711-Related
Mental Retardation, X-Linked, Znf711-Related 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2009 2017
dbSNP: rs760346140
rs760346140 		1.000 0.200 X 85271344 missense variant A/G snv 5.5E-06 2.8E-05
CUI: C2749020
Disease: Mental Retardation, X-Linked, Znf711-Related
Mental Retardation, X-Linked, Znf711-Related 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2009 2017
dbSNP: rs777239465
rs777239465 		1.000 0.200 X 85265160 missense variant A/G snv 3.8E-05 3.8E-05
CUI: C2749020
Disease: Mental Retardation, X-Linked, Znf711-Related
Mental Retardation, X-Linked, Znf711-Related 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2009 2017
dbSNP: rs1060505032
rs1060505032 		1.000 0.200 X 85271595 frameshift variant T/- delins
CUI: C2749020
Disease: Mental Retardation, X-Linked, Znf711-Related
Mental Retardation, X-Linked, Znf711-Related 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1060505033
rs1060505033 		1.000 0.200 X 85264383 missense variant T/C snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1555974716
rs1555974716 		1.000 0.200 X 85270774 frameshift variant -/A delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1555974716
rs1555974716 		1.000 0.200 X 85270774 frameshift variant -/A delins
CUI: C2749020
Disease: Mental Retardation, X-Linked, Znf711-Related
Mental Retardation, X-Linked, Znf711-Related 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs199422240
rs199422240 		1.000 0.200 X 85271115 stop gained A/T snv
CUI: C2749020
Disease: Mental Retardation, X-Linked, Znf711-Related
Mental Retardation, X-Linked, Znf711-Related 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs768314738
rs768314738 		0.925 0.160 X 85265151 missense variant C/T snv 1.1E-05 9.6E-06
CUI: C3536714
Disease: Renal dysplasia
Renal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs768314738
rs768314738 		0.925 0.160 X 85265151 missense variant C/T snv 1.1E-05 9.6E-06
CUI: C0235831
Disease: Renal Cell Dysplasia
Renal Cell Dysplasia 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2009 2009