Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2 		0.110 GeneticVariation disease CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2 		0.110 GeneticVariation disease BEFREE A 27 month old girl with developmental delay, central hypotonia, cerebral atrophy, and failure to thrive with growth retardation was identified by whole exome sequencing to have a mosaic missense variant in SLC35A2 (c.991G > A). 29907092 2018
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		0.110 GeneticVariation disease BEFREE Biallelic loss-of-function UBA5 mutations in a patient with intractable West syndrome and profound failure to thrive. 30078785 2018
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3 		0.110 Biomarker disease BEFREE De novo truncating mutations in Additional sex combs-like 3 (ASXL3) have been identified in individuals with Bainbridge-Ropers syndrome (BRS), characterized by failure to thrive, global developmental delay, feeding problems, hypotonia, dysmorphic features, profound speech delays and intellectual disability. 26647312 2016
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		0.110 GeneticVariation disease 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 		0.110 CausalMutation disease CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689 2016
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		0.110 GeneticVariation disease BEFREE We report the first case of leukodystrophy with systemic cytochrome oxidase deficiency caused by a loss of function mutation in the SURF1 gene in a 2-year-old girl presenting with failure to thrive, global neurodevelopmental regression, and lactic acidosis. 11409433 2001
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		0.110 GeneticVariation disease CLINVAR
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		0.110 CausalMutation disease CLINVAR
Entrez Id: 1384
Gene Symbol: CRAT
CRAT 		0.100 GeneticVariation disease 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 		0.100 GeneticVariation disease 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 		0.100 CausalMutation disease 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 		0.100 CausalMutation disease 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 		0.100 CausalMutation disease CLINVAR Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. 27989324 2017
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		0.100 GeneticVariation disease 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 		0.100 CausalMutation disease 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 		0.100 CausalMutation disease CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1 		0.100 CausalMutation disease CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563 2017
Entrez Id: 6651
Gene Symbol: SON
SON 		0.100 GeneticVariation disease 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 		0.100 CausalMutation disease CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799 2016
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2 		0.100 CausalMutation disease 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 		0.100 CausalMutation disease CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
Entrez Id: 2548
Gene Symbol: GAA
GAA 		0.100 CausalMutation disease 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 		0.100 CausalMutation disease CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204 2015
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3 		0.100 CausalMutation disease CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012