Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C4225398
Disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 		0.740 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C4225398
Disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 		0.740 CausalMutation CLINVAR In vitro functional studies demonstrated that NALCN alterations nearly abolished the expression of wild-type NALCN, suggesting that alterations that cause CLIFAHDD syndrome have a dominant-negative effect. 25683120

2015
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C3809454
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 		0.710 GeneticVariation CLINVAR

Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C3809454
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 		0.710 CausalMutation CLINVAR

Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.120 CausalMutation CLINVAR A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm. 26923739

2016
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C0006625
Disease: Cachexia
Cachexia 		0.110 CausalMutation CLINVAR A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm. 26923739

2016
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome. 28133733

2017
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm. 26923739

2016
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR A de novo mutation in the NALCN gene in an adult patient with cerebellar ataxia associated with intellectual disability and arthrogryposis. 27633718

2016
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone. 27214504

2016
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations. 27558372

2016
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Muscle biopsy findings in a child with NALCN gene mutation. 27473021

2016
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C0036572
Disease: Seizures
Seizures 		0.100 CausalMutation CLINVAR A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm. 26923739

2016
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 CausalMutation CLINVAR A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm. 26923739

2016
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central 		0.100 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C1837388
Disease: Abnormal pattern of respiration
Abnormal pattern of respiration 		0.100 CausalMutation CLINVAR A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm. 26923739

2016
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C1837731
Disease: Overfolded helix
Overfolded helix 		0.100 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C3494422
Disease: Retrognathia
Retrognathia 		0.100 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C4023171
Disease: Chin with horizontal crease
Chin with horizontal crease 		0.100 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C4025173
Disease: Arthrogryposis-like hand anomaly
Arthrogryposis-like hand anomaly 		0.100 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. 25683120

2015
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism. 23749988

2013
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay. 24075186

2013