Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 89953
Gene Symbol: KLC4
KLC4
CUI: C2673410
Disease: Small midface
Small midface 		0.100 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019
Entrez Id: 9820
Gene Symbol: CUL7
CUL7
CUI: C2673410
Disease: Small midface
Small midface 		0.100 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019
Entrez Id: 2259
Gene Symbol: FGF14
FGF14
CUI: C2673410
Disease: Small midface
Small midface 		0.100 GeneticVariation CLINVAR

Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C2673410
Disease: Small midface
Small midface 		0.100 CausalMutation CLINVAR

Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C2673410
Disease: Small midface
Small midface 		0.100 CausalMutation CLINVAR

Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
CUI: C2673410
Disease: Small midface
Small midface 		0.100 CausalMutation CLINVAR

Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C2673410
Disease: Small midface
Small midface 		0.100 GeneticVariation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C2673410
Disease: Small midface
Small midface 		0.100 CausalMutation CLINVAR

Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C2673410
Disease: Small midface
Small midface 		0.100 GeneticVariation CLINVAR

Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK
CUI: C2673410
Disease: Small midface
Small midface 		0.100 GeneticVariation CLINVAR

Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C2673410
Disease: Small midface
Small midface 		0.100 GeneticVariation CLINVAR

Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1
CUI: C2673410
Disease: Small midface
Small midface 		0.100 GeneticVariation CLINVAR

Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
CUI: C2673410
Disease: Small midface
Small midface 		0.100 GeneticVariation CLINVAR

Entrez Id: 5888
Gene Symbol: RAD51
RAD51
CUI: C2673410
Disease: Small midface
Small midface 		0.100 GeneticVariation CLINVAR

Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C2673410
Disease: Small midface
Small midface 		0.100 CausalMutation CLINVAR

Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C2673410
Disease: Small midface
Small midface 		0.100 CausalMutation CLINVAR

Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1
CUI: C2673410
Disease: Small midface
Small midface 		0.100 CausalMutation CLINVAR

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C2673410
Disease: Small midface
Small midface 		0.100 CausalMutation CLINVAR

Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C2673410
Disease: Small midface
Small midface 		0.100 GeneticVariation CLINVAR

Entrez Id: 112939
Gene Symbol: NACC1
NACC1
CUI: C2673410
Disease: Small midface
Small midface 		0.100 CausalMutation CLINVAR

Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C2673410
Disease: Small midface
Small midface 		0.100 CausalMutation CLINVAR

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2673410
Disease: Small midface
Small midface 		0.100 CausalMutation CLINVAR

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C2673410
Disease: Small midface
Small midface 		0.100 GeneticVariation CLINVAR