Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9702
Gene Symbol: CEP57
CEP57
CUI: C3279843
Disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 		0.600 Biomarker CLINGEN Xenopus Cep57 is a novel kinetochore component involved in microtubule attachment. 17803911

2007
Entrez Id: 4810
Gene Symbol: NHS
NHS
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		1.000 Biomarker CLINGEN Xcat, a novel mouse model for Nance-Horan syndrome inhibits expression of the cytoplasmic-targeted Nhs1 isoform. 16357105

2006
Entrez Id: 6611
Gene Symbol: SMS
SMS
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		0.800 Biomarker CLINGEN X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome. 14508504

2003
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.300 Biomarker CLINGEN X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. 17262856

2007
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. 17262856

2007
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		0.300 Biomarker CLINGEN X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. 17262856

2007
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.300 Biomarker CLINGEN X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. 17262856

2007
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 Biomarker CLINGEN X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. 17262856

2007
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 Biomarker CLINGEN X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. 17262856

2007
Entrez Id: 5063
Gene Symbol: PAK3
PAK3
CUI: C0796250
Disease: PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME 		0.300 Biomarker CLINGEN X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3. 12884430

2003
Entrez Id: 6855
Gene Symbol: SYP
SYP
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker CLINGEN X-linked intellectual disability-associated mutations in synaptophysin disrupt synaptobrevin II retrieval. 23966691

2013
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
CUI: C3275464
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE 		0.700 Biomarker CLINGEN X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity. 24053514

2013
Entrez Id: 8573
Gene Symbol: CASK
CASK
CUI: C0796250
Disease: PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME 		0.300 Biomarker CLINGEN X-linked intellectual disability gene CASK regulates postnatal brain growth in a non-cell autonomous manner. 27036546

2016
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1
CUI: C1845095
Disease: DEAFNESS, X-LINKED 5 (disorder)
DEAFNESS, X-LINKED 5 (disorder) 		0.700 Biomarker CLINGEN X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1. 28842795

2017
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1
CUI: C4304400
Disease: X-linked hereditary sensory and autonomic neuropathy with deafness
X-linked hereditary sensory and autonomic neuropathy with deafness 		0.300 Biomarker CLINGEN X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1. 28842795

2017
Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C2678194
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Christianson Type 		0.800 Biomarker CLINGEN X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal-lysosomal dysfunction. 21964919

2011
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C1527231
Disease: Adrenomyeloneuropathy
Adrenomyeloneuropathy 		0.600 Biomarker CLINGEN X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism. 21700483

2012
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C1527231
Disease: Adrenomyeloneuropathy
Adrenomyeloneuropathy 		0.600 Biomarker CLINGEN X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females. 15811009

2005
Entrez Id: 1183
Gene Symbol: CLCN4
CLCN4
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker CLINGEN X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. 25644381

2016
Entrez Id: 2892
Gene Symbol: GRIA3
GRIA3
CUI: C0796250
Disease: PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME 		0.300 Biomarker CLINGEN X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. 24721225

2014
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker CLINGEN X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. 24721225

2014
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		0.600 Biomarker CLINGEN X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face. 22889856

2012
Entrez Id: 55135
Gene Symbol: WRAP53
WRAP53
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.650 Biomarker CLINGEN WRAP53 is essential for Cajal body formation and for targeting the survival of motor neuron complex to Cajal bodies. 21072240

2010
Entrez Id: 493856
Gene Symbol: CISD2
CISD2
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome 		0.600 Biomarker CLINGEN Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings. 25371195

2015
Entrez Id: 5009
Gene Symbol: OTC
OTC
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		1.000 Biomarker CLINGEN With direct sequence analysis of OTC gene of 26 unrelated Korean patients with OTC deficiency, 23 different mutations were identified. 17041896

2006