CLCN4, chloride voltage-gated channel 4, 1183

N. diseases: 114; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796221
Disease: MENTAL RETARDATION, X-LINKED 15
MENTAL RETARDATION, X-LINKED 15 		0.700 GeneticVariation disease UNIPROT X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. 25644381 2016
CUI: C0796221
Disease: MENTAL RETARDATION, X-LINKED 15
MENTAL RETARDATION, X-LINKED 15 		0.700 Biomarker disease GENOMICS_ENGLAND X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. 25644381 2016
CUI: C0796221
Disease: MENTAL RETARDATION, X-LINKED 15
MENTAL RETARDATION, X-LINKED 15 		0.700 Biomarker disease GENOMICS_ENGLAND Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. 23647072 2013
CUI: C0796221
Disease: MENTAL RETARDATION, X-LINKED 15
MENTAL RETARDATION, X-LINKED 15 		0.700 GeneticVariation disease UNIPROT Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. 23647072 2013
CUI: C0796221
Disease: MENTAL RETARDATION, X-LINKED 15
MENTAL RETARDATION, X-LINKED 15 		0.700 GeneticVariation disease CLINVAR
CUI: C0796221
Disease: MENTAL RETARDATION, X-LINKED 15
MENTAL RETARDATION, X-LINKED 15 		0.700 CausalMutation disease CLINVAR
CUI: C0796221
Disease: MENTAL RETARDATION, X-LINKED 15
MENTAL RETARDATION, X-LINKED 15 		0.700 Biomarker disease CTD_human
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker disease CLINGEN De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. 27550844 2018
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.300 GermlineCausalMutation disease ORPHANET X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. 25644381 2016
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker disease CLINGEN X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. 25644381 2016
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker disease CLINGEN Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. 23647072 2013
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 CausalMutation phenotype CLINVAR De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. 27550844 2018
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.100 Biomarker phenotype HPO
CUI: C0003467
Disease: Anxiety
Anxiety 		0.100 Biomarker disease HPO
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.100 Biomarker disease HPO
CUI: C0008489
Disease: Chorea
Chorea 		0.100 Biomarker phenotype HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.100 Biomarker disease HPO
CUI: C0013132
Disease: Drooling
Drooling 		0.100 Biomarker phenotype HPO
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		0.100 Biomarker disease HPO
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.100 Biomarker phenotype HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.100 Biomarker disease HPO
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.100 Biomarker phenotype HPO
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular 		0.100 Biomarker disease HPO
CUI: C0025037
Disease: Meckel Diverticulum
Meckel Diverticulum 		0.100 Biomarker disease HPO