Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80856
Gene Symbol: LNPK
LNPK
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.400 Biomarker HPO

Entrez Id: 197258
Gene Symbol: FCSK
FCSK
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.400 Biomarker HPO

Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.100 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018

Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.100 CausalMutation CLINVAR A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome. 29663667

2018

Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.100 CausalMutation CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822

2018

Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.100 GeneticVariation CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671

2017

Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.100 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017

Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.100 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017

Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.100 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699

2017

Entrez Id: 4191
Gene Symbol: MDH2
MDH2
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.100 CausalMutation CLINVAR Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. 27989324

2017

Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.100 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017

Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.100 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017

Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.100 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016

Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.100 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016

Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
CUI: C1858120
Disease: Generalized hypotonia
Generalized 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: 84126
Gene Symbol: ATRIP
ATRIP
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.100 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016

Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.100 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.100 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016

Entrez Id: 11277
Gene Symbol: TREX1
TREX1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.100 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016

Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.100 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400

2016

Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.100 GeneticVariation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016

Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.100 CausalMutation CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781

2016

Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
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: 157680
Gene Symbol: VPS13B
VPS13B
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.100 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016

Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.100 GeneticVariation CLINVAR Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation. 26834045

2016