Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1468
Gene Symbol: SLC25A10
SLC25A10
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		0.100 GeneticVariation CLINVAR SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency. 29211846

2018
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		0.100 CausalMutation CLINVAR MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. 27799064

2016
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		0.100 CausalMutation CLINVAR De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. 26486474

2016
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		0.100 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
Entrez Id: 79868
Gene Symbol: ALG13
ALG13
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		0.100 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013
Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		0.100 GeneticVariation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		0.100 GeneticVariation CLINVAR

Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		0.100 GeneticVariation CLINVAR

Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		0.100 CausalMutation CLINVAR

Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		0.100 GeneticVariation CLINVAR

Entrez Id: 23203
Gene Symbol: PMPCA
PMPCA
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		0.100 CausalMutation CLINVAR

Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		0.100 GeneticVariation CLINVAR

Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		0.100 CausalMutation CLINVAR

Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		0.100 CausalMutation CLINVAR

Entrez Id: 1822
Gene Symbol: ATN1
ATN1
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		0.100 GeneticVariation CLINVAR

Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		0.100 GeneticVariation CLINVAR