Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.110 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854

2019

Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.110 GeneticVariation CLINVAR Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency. 27756633

2016

Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.110 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016

Entrez Id: 79876
Gene Symbol: UBA5
UBA5
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.110 GeneticVariation CLINVAR

Entrez Id: 79876
Gene Symbol: UBA5
UBA5
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.110 CausalMutation CLINVAR

Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 GeneticVariation CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845

2020

Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736

2019

Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 CausalMutation CLINVAR A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. 29555671

2018

Entrez Id: 4191
Gene Symbol: MDH2
MDH2
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 CausalMutation CLINVAR Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. 27989324

2017

Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
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: 2186
Gene Symbol: BPTF
BPTF
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
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: 816
Gene Symbol: CAMK2B
CAMK2B
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017

Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563

2017

Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 GeneticVariation CLINVAR De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. 27545676

2016

Entrez Id: 2782
Gene Symbol: GNB1
GNB1
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016

Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 CausalMutation CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781

2016

Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980

2015

Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 CausalMutation CLINVAR c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype. 26160551

2015

Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 CausalMutation CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204

2015

Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 CausalMutation CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524

2012

Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 CausalMutation CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309

2012

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 CausalMutation CLINVAR Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 20949621

2011

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 CausalMutation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482

2007

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.100 CausalMutation CLINVAR Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483

2007