Source: INFERRED

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

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: 51091
Gene Symbol: SEPSECS
SEPSECS
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 GeneticVariation 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: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 GeneticVariation CLINVAR

Entrez Id: 64097
Gene Symbol: EPB41L4A
EPB41L4A
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 GeneticVariation CLINVAR

Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 GeneticVariation CLINVAR

Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 GeneticVariation CLINVAR

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: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 GeneticVariation CLINVAR

Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 GeneticVariation CLINVAR

Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 GeneticVariation CLINVAR

Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 GeneticVariation CLINVAR

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: 80152
Gene Symbol: CENPT
CENPT
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 GeneticVariation CLINVAR

Entrez Id: 23111
Gene Symbol: SPART
SPART
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 GeneticVariation CLINVAR

Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 GeneticVariation CLINVAR

Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 GeneticVariation CLINVAR

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: 7019
Gene Symbol: TFAM
TFAM
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 GeneticVariation CLINVAR

Entrez Id: 11253
Gene Symbol: MAN1B1
MAN1B1
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 GeneticVariation CLINVAR

Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 GeneticVariation CLINVAR

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 GeneticVariation CLINVAR

Entrez Id: 57215
Gene Symbol: THAP11
THAP11
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 GeneticVariation CLINVAR