CDC42, cell division cycle 42, 998

N. diseases: 327; N. variants: 16
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: rs1553196101
rs1553196101 		0.925 0.080 1 22086507 missense variant T/C snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1553196134
rs1553196134 		0.925 0.080 1 22086856 missense variant C/T snv
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		0.700 0
dbSNP: rs1553196134
rs1553196134 		0.925 0.080 1 22086856 missense variant C/T snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1553196134
rs1553196134 		0.925 0.080 1 22086856 missense variant C/T snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1553196134
rs1553196134 		0.925 0.080 1 22086856 missense variant C/T snv
CUI: C0028866
Disease: Oculomotor Nerve Paralysis
Oculomotor Nerve Paralysis 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1553196134
rs1553196134 		0.925 0.080 1 22086856 missense variant C/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1553196134
rs1553196134 		0.925 0.080 1 22086856 missense variant C/T snv
CUI: C0038379
Disease: Strabismus
Strabismus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1553196539
rs1553196539 		1.000 1 22091452 missense variant G/A snv
CUI: C4225222
Disease: TAKENOUCHI-KOSAKI SYNDROME
TAKENOUCHI-KOSAKI SYNDROME 		0.700 0
dbSNP: rs797044870
rs797044870 		0.925 1 22086456 missense variant A/G snv
CUI: C4225222
Disease: TAKENOUCHI-KOSAKI SYNDROME
TAKENOUCHI-KOSAKI SYNDROME 		0.700 0
dbSNP: rs17837965
rs17837965 		1.000 0.040 1 22068132 intron variant A/G snv 5.3E-02
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome 		Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2473277
rs2473277 		1.000 0.040 1 22035352 intron variant G/A snv 0.58
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs864309721
rs864309721 		1.000 1 22086451 missense variant A/G snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2019 2019