ACO2, aconitase 2, 50

N. diseases: 74; 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: rs786200924
rs786200924 		1.000 22 41507953 missense variant C/G snv
CUI: C3281192
Disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION
INFANTILE CEREBELLAR-RETINAL DEGENERATION 		0.800 1.000 2 2012 2014
dbSNP: rs141772938
rs141772938 		1.000 22 41507837 missense variant C/G snv 3.7E-03 3.8E-03
CUI: C4225384
Disease: OPTIC ATROPHY 9
OPTIC ATROPHY 9 		0.800 1.000 1 2014 2014
dbSNP: rs752034900
rs752034900 		1.000 22 41527315 missense variant G/A snv 4.0E-06
CUI: C4225384
Disease: OPTIC ATROPHY 9
OPTIC ATROPHY 9 		0.800 1.000 1 2014 2014
dbSNP: rs786204828
rs786204828 		1.000 22 41515858 missense variant G/A snv
CUI: C3281192
Disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION
INFANTILE CEREBELLAR-RETINAL DEGENERATION 		0.800 0
dbSNP: rs786204829
rs786204829 		1.000 22 41528022 missense variant G/C snv
CUI: C3281192
Disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION
INFANTILE CEREBELLAR-RETINAL DEGENERATION 		0.800 0
dbSNP: rs150129663
rs150129663 		22 41518528 missense variant C/T snv 1.6E-05 2.1E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 4 2012 2017
dbSNP: rs1555890974
rs1555890974 		22 41527919 frameshift variant AG/- del
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 4 2012 2017
dbSNP: rs117078955
rs117078955 		1.000 0.080 22 41501983 intron variant C/T snv 1.5E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs727563
rs727563 		1.000 0.040 22 41471373 intron variant C/T snv 0.59
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs9611602
rs9611602 		22 41512401 intron variant T/C snv 0.19
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1114167284
rs1114167284 		1.000 22 41528607 frameshift variant CA/- delins
CUI: C3281192
Disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION
INFANTILE CEREBELLAR-RETINAL DEGENERATION 		0.700 0
dbSNP: rs375761361
rs375761361 		0.827 0.240 22 41527949 missense variant C/G;T snv 4.0E-06; 3.6E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs375761361
rs375761361 		0.827 0.240 22 41527949 missense variant C/G;T snv 4.0E-06; 3.6E-05
CUI: C0078981
Disease: Arachnoid Cysts
Arachnoid Cysts 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs375761361
rs375761361 		0.827 0.240 22 41527949 missense variant C/G;T snv 4.0E-06; 3.6E-05
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs375761361
rs375761361 		0.827 0.240 22 41527949 missense variant C/G;T snv 4.0E-06; 3.6E-05
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs375761361
rs375761361 		0.827 0.240 22 41527949 missense variant C/G;T snv 4.0E-06; 3.6E-05
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs375761361
rs375761361 		0.827 0.240 22 41527949 missense variant C/G;T snv 4.0E-06; 3.6E-05
CUI: C3281192
Disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION
INFANTILE CEREBELLAR-RETINAL DEGENERATION 		0.700 0
dbSNP: rs375761361
rs375761361 		0.827 0.240 22 41527949 missense variant C/G;T snv 4.0E-06; 3.6E-05
CUI: C4022919
Disease: Appendicular hypotonia
Appendicular hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs375761361
rs375761361 		0.827 0.240 22 41527949 missense variant C/G;T snv 4.0E-06; 3.6E-05
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs375761361
rs375761361 		0.827 0.240 22 41527949 missense variant C/G;T snv 4.0E-06; 3.6E-05
CUI: C3806442
Disease: Myoclonic spasms
Myoclonic spasms 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs786204830
rs786204830 		1.000 22 41528595 frameshift variant GGAA/- delins
CUI: C3281192
Disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION
INFANTILE CEREBELLAR-RETINAL DEGENERATION 		0.700 0
dbSNP: rs864309499
rs864309499 		0.827 0.240 22 41526319 missense variant C/T snv 4.0E-06
CUI: C3281192
Disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION
INFANTILE CEREBELLAR-RETINAL DEGENERATION 		0.700 0
dbSNP: rs864309499
rs864309499 		0.827 0.240 22 41526319 missense variant C/T snv 4.0E-06
CUI: C0078981
Disease: Arachnoid Cysts
Arachnoid Cysts 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs864309499
rs864309499 		0.827 0.240 22 41526319 missense variant C/T snv 4.0E-06
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs864309499
rs864309499 		0.827 0.240 22 41526319 missense variant C/T snv 4.0E-06
CUI: C4022919
Disease: Appendicular hypotonia
Appendicular hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0