ISCA1, iron-sulfur cluster assembly 1, 81689

N. diseases: 23; N. variants: 6
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: rs776679653
rs776679653 		0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06
CUI: C4539919
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 		0.800 1.000 2 2017 2018
dbSNP: rs776679653
rs776679653 		0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06
CUI: C3502075
Disease: Multiple Mitochondrial Dysfunctions Syndrome
Multiple Mitochondrial Dysfunctions Syndrome 		Nutritional and Metabolic Diseases 0.710 1.000 1 2017 2017
dbSNP: rs1535757
rs1535757 		1.000 0.040 9 86275118 intron variant C/T snv 0.44
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1535759
rs1535759 		1.000 0.040 9 86275836 intron variant G/A;C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2147064
rs2147064 		1.000 0.040 9 86278976 intron variant C/T snv 0.75
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs59614505
rs59614505 		9 86271332 intron variant G/A;T snv 0.44
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs776679653
rs776679653 		0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		0.700 1.000 1 2017 2017
dbSNP: rs776679653
rs776679653 		0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2017 2017
dbSNP: rs776679653
rs776679653 		0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06
CUI: C0266483
Disease: Pachygyria
Pachygyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs776679653
rs776679653 		0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 1.000 1 2017 2017
dbSNP: rs776679653
rs776679653 		0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs776679653
rs776679653 		0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs776679653
rs776679653 		0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs776679653
rs776679653 		0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs776679653
rs776679653 		0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		Nutritional and Metabolic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs9314750
rs9314750 		1.000 0.040 9 86282041 5 prime UTR variant A/C;G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017