Source: INFERRED

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: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease 0.100 None 1.000 1 4 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: 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: 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: C0596887
Disease: mathematical ability
mathematical ability 		phenotype 0.100 None 1.000 1 1 2018 2018
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: 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: 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: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		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: 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: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype 0.100 None 0 0
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1 		iron-sulfur cluster assembly 1 0.792 0.231 0.17
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 0
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1 		iron-sulfur cluster assembly 1 0.792 0.231 0.17
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype 0.100 None 0 0
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1 		iron-sulfur cluster assembly 1 0.792 0.231 0.17
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		phenotype 0.100 None 0 0
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1 		iron-sulfur cluster assembly 1 0.792 0.231 0.17
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1 		iron-sulfur cluster assembly 1 0.792 0.231 0.17
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 0
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1 		iron-sulfur cluster assembly 1 0.792 0.231 0.17
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype 0.100 None 0 0
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1 		iron-sulfur cluster assembly 1 0.792 0.231 0.17
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype 0.100 None 0 0
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1 		iron-sulfur cluster assembly 1 0.792 0.231 0.17
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.100 None 0 0
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1 		iron-sulfur cluster assembly 1 0.792 0.231 0.17
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype 0.100 None 0 0