Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1 		iron-sulfur cluster assembly 1 0.792 0.231 0.17
CUI: C4539919
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 		disease 0.600 strong 1.000 2 1 2017 2018
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1 		iron-sulfur cluster assembly 1 0.792 0.231 0.17
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		disease 0.110 None 1.000 1 1 2017 2018
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1 		iron-sulfur cluster assembly 1 0.792 0.231 0.17
CUI: C3502075
Disease: Multiple Mitochondrial Dysfunctions Syndrome
Multiple Mitochondrial Dysfunctions Syndrome 		disease 0.110 None 1.000 1 1 2017 2017
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1 		iron-sulfur cluster assembly 1 0.792 0.231 0.17
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1 		iron-sulfur cluster assembly 1 0.792 0.231 0.17
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1 		iron-sulfur cluster assembly 1 0.792 0.231 0.17
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1 		iron-sulfur cluster assembly 1 0.792 0.231 0.17
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1 		iron-sulfur cluster assembly 1 0.792 0.231 0.17
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1 		iron-sulfur cluster assembly 1 0.792 0.231 0.17
CUI: C0266483
Disease: Pachygyria
Pachygyria 		disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1 		iron-sulfur cluster assembly 1 0.792 0.231 0.17
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1 		iron-sulfur cluster assembly 1 0.792 0.231 0.17
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 1.000 1 1 2017 2017