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 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: 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: 79876
Gene Symbol: UBA5
UBA5 		0.110 GeneticVariation disease CLINVAR
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: 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 BEFREE Biallelic loss-of-function UBA5 mutations in a patient with intractable West syndrome and profound failure to thrive. 30078785 2018
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		0.110 CausalMutation disease CLINVAR
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: 51091
Gene Symbol: SEPSECS
SEPSECS 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 CausalMutation disease CLINVAR The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 15928039 2005
Entrez Id: 91949
Gene Symbol: COG7
COG7 		0.100 CausalMutation disease CLINVAR
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		0.100 CausalMutation disease CLINVAR
Entrez Id: 7482
Gene Symbol: WNT2B
WNT2B 		0.100 CausalMutation disease CLINVAR
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		0.100 CausalMutation disease CLINVAR Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 20949621 2011
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
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		0.100 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: 57479
Gene Symbol: PRR12
PRR12 		0.100 CausalMutation disease CLINVAR
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: 23203
Gene Symbol: PMPCA
PMPCA 		0.100 CausalMutation disease CLINVAR
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B 		0.100 CausalMutation disease CLINVAR
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		0.100 CausalMutation disease CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
Entrez Id: 64097
Gene Symbol: EPB41L4A
EPB41L4A 		0.100 GeneticVariation disease CLINVAR