Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.100 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854

2019
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.100 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.100 CausalMutation CLINVAR

Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.100 CausalMutation CLINVAR

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.100 CausalMutation CLINVAR

Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.100 CausalMutation CLINVAR

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.100 GeneticVariation CLINVAR

Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.100 GeneticVariation CLINVAR

Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.100 CausalMutation CLINVAR

Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.100 CausalMutation CLINVAR

Entrez Id: 79641
Gene Symbol: ROGDI
ROGDI
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.100 CausalMutation CLINVAR

Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.100 CausalMutation CLINVAR

Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.100 GeneticVariation CLINVAR

Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.100 CausalMutation CLINVAR

Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.100 GeneticVariation CLINVAR

Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.100 CausalMutation CLINVAR

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.100 GeneticVariation CLINVAR

Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.100 CausalMutation CLINVAR

Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.100 GeneticVariation CLINVAR

Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.100 CausalMutation CLINVAR

Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.100 CausalMutation CLINVAR

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.100 CausalMutation CLINVAR