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: 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: 51091
Gene Symbol: SEPSECS
SEPSECS 		0.100 GeneticVariation 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: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 64097
Gene Symbol: EPB41L4A
EPB41L4A 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL 		0.100 GeneticVariation disease CLINVAR
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: 26053
Gene Symbol: AUTS2
AUTS2 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 56052
Gene Symbol: ALG1
ALG1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		0.100 GeneticVariation disease CLINVAR
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: 80152
Gene Symbol: CENPT
CENPT 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 23111
Gene Symbol: SPART
SPART 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5 		0.100 GeneticVariation disease CLINVAR
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: 7019
Gene Symbol: TFAM
TFAM 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 11253
Gene Symbol: MAN1B1
MAN1B1 		0.100 GeneticVariation disease CLINVAR