Entrez Id: |
7355 |
Gene Symbol: |
SLC35A2 |
SLC35A2
|
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
|
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
|
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
|
Pediatric failure to thrive
|
0.110 |
GeneticVariation |
CLINVAR |
|
|
|
Entrez Id: |
79876 |
Gene Symbol: |
UBA5 |
UBA5
|
Pediatric failure to thrive
|
0.110 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
1384 |
Gene Symbol: |
CRAT |
CRAT
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
Pediatric failure to thrive
|
0.100 |
CausalMutation |
CLINVAR |
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
|
17603483 |
2007 |