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

Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.110 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

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: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 CausalMutation CLINVAR The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 15928039

2005
Entrez Id: 91949
Gene Symbol: COG7
COG7
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 CausalMutation CLINVAR

Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 CausalMutation CLINVAR

Entrez Id: 7482
Gene Symbol: WNT2B
WNT2B
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 CausalMutation CLINVAR

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C2315100
Disease: Pediatric failure to thrive
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: 6531
Gene Symbol: SLC6A3
SLC6A3
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 CausalMutation CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524

2012
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 CausalMutation 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: 57479
Gene Symbol: PRR12
PRR12
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 CausalMutation CLINVAR

Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
CUI: C2315100
Disease: Pediatric failure to thrive
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: 23203
Gene Symbol: PMPCA
PMPCA
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 CausalMutation CLINVAR

Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 GeneticVariation CLINVAR

Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 CausalMutation CLINVAR

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 CausalMutation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482

2007
Entrez Id: 64097
Gene Symbol: EPB41L4A
EPB41L4A
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 GeneticVariation CLINVAR

Entrez Id: 203068
Gene Symbol: TUBB
TUBB
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 CausalMutation CLINVAR

Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C2315100
Disease: Pediatric failure to thrive
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: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 CausalMutation CLINVAR

Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 CausalMutation CLINVAR