USH1G, USH1 protein network component sans, 124590

N. diseases: 52; N. variants: 14
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: rs104894651
rs104894651 		1.000 0.200 17 74922931 missense variant A/G snv
CUI: C1847089
Disease: USHER SYNDROME, TYPE IG
USHER SYNDROME, TYPE IG 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 4 2003 2011
dbSNP: rs397517925
rs397517925 		0.925 0.200 17 74919463 missense variant T/A snv 4.1E-06 1.4E-05
CUI: C1847089
Disease: USHER SYNDROME, TYPE IG
USHER SYNDROME, TYPE IG 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 3 2003 2010
dbSNP: rs397515345
rs397515345 		0.925 0.200 17 74919985 frameshift variant ACGCTGTCCTCGTCCGAGAG/- delins
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2002 2002
dbSNP: rs587776546
rs587776546 		0.925 0.200 17 74920441 frameshift variant -/C delins 2.0E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2003 2003
dbSNP: rs876657419
rs876657419 		1.000 0.200 17 74923028 missense variant G/C snv 2.1E-05
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2011 2011
dbSNP: rs104894652
rs104894652 		1.000 0.200 17 74922961 stop gained C/T snv 6.1E-06
CUI: C1847089
Disease: USHER SYNDROME, TYPE IG
USHER SYNDROME, TYPE IG 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1316299165
rs1316299165 		1.000 0.200 17 74919776 missense variant C/A;G;T snv 4.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1316299165
rs1316299165 		1.000 0.200 17 74919776 missense variant C/A;G;T snv 4.0E-06
CUI: C1847089
Disease: USHER SYNDROME, TYPE IG
USHER SYNDROME, TYPE IG 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1567939718
rs1567939718 		17 74919981 frameshift variant -/C delins
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1567939793
rs1567939793 		17 74920024 frameshift variant G/- delins
CUI: C0011053
Disease: Deafness
Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1567940507
rs1567940507 		17 74920522 missense variant G/A snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs201866631
rs201866631 		0.882 0.200 17 74920325 stop gained C/A;T snv 4.1E-06; 8.1E-06
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		0.700 0
dbSNP: rs201866631
rs201866631 		0.882 0.200 17 74920325 stop gained C/A;T snv 4.1E-06; 8.1E-06
CUI: C1847089
Disease: USHER SYNDROME, TYPE IG
USHER SYNDROME, TYPE IG 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs201866631
rs201866631 		0.882 0.200 17 74920325 stop gained C/A;T snv 4.1E-06; 8.1E-06
CUI: C0011053
Disease: Deafness
Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs201866631
rs201866631 		0.882 0.200 17 74920325 stop gained C/A;T snv 4.1E-06; 8.1E-06
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs397515345
rs397515345 		0.925 0.200 17 74919985 frameshift variant ACGCTGTCCTCGTCCGAGAG/- delins
CUI: C1847089
Disease: USHER SYNDROME, TYPE IG
USHER SYNDROME, TYPE IG 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs587776546
rs587776546 		0.925 0.200 17 74920441 frameshift variant -/C delins 2.0E-05
CUI: C1847089
Disease: USHER SYNDROME, TYPE IG
USHER SYNDROME, TYPE IG 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs730880268
rs730880268 		1.000 0.200 17 74920649 frameshift variant GT/- delins
CUI: C1847089
Disease: USHER SYNDROME, TYPE IG
USHER SYNDROME, TYPE IG 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs886043626
rs886043626 		1.000 0.200 17 74919525 frameshift variant C/- del
CUI: C1847089
Disease: USHER SYNDROME, TYPE IG
USHER SYNDROME, TYPE IG 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1322425552
rs1322425552 		0.851 0.160 17 74923048 missense variant G/A snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 < 0.001 1 2007 2007
dbSNP: rs1322425552
rs1322425552 		0.851 0.160 17 74923048 missense variant G/A snv
CUI: C0686347
Disease: Tardive Dyskinesia
Tardive Dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1322425552
rs1322425552 		0.851 0.160 17 74923048 missense variant G/A snv
CUI: C3714760
Disease: Drug-induced tardive dyskinesia
Drug-induced tardive dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders 0.010 1.000 1 2007 2007
dbSNP: rs1322425552
rs1322425552 		0.851 0.160 17 74923048 missense variant G/A snv
CUI: C0392702
Disease: Abnormal involuntary movement
Abnormal involuntary movement 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs397517925
rs397517925 		0.925 0.200 17 74919463 missense variant T/A snv 4.1E-06 1.4E-05
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2005 2005