Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6016
Gene Symbol: RIT1
RIT1 		Ras like without CAAX 1 0.527 0.808 0.13
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 6595
Gene Symbol: SMARCA2
SMARCA2 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 0.527 0.769 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 1476
Gene Symbol: CSTB
CSTB 		cystatin B 0.530 0.692 6.6E-03
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 1644
Gene Symbol: DDC
DDC 		dopa decarboxylase 0.535 0.769 3.8E-08
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X 		DEAD-box helicase 3 X-linked 0.537 0.769 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 3
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 3756
Gene Symbol: KCNH1
KCNH1 		potassium voltage-gated channel subfamily H member 1 0.542 0.731 0.55
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU 		N-acetyl-alpha-glucosaminidase 0.546 0.769 1.4E-08
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 2
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		peroxisomal biogenesis factor 6 0.547 0.731 6.3E-06
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 2
Entrez Id: 57728
Gene Symbol: WDR19
WDR19 		WD repeat domain 19 0.554 0.769 4.6E-11
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11 		ankyrin repeat domain 11 0.556 0.808 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B 		cullin 4B 0.556 0.769 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A 		kinesin family member 1A 0.559 0.692 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 55764
Gene Symbol: IFT122
IFT122 		intraflagellar transport 122 0.560 0.846 2.4E-24
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 26137
Gene Symbol: ZBTB20
ZBTB20 		zinc finger and BTB domain containing 20 0.566 0.731 0.97
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 4693
Gene Symbol: NDP
NDP 		norrin cystine knot growth factor NDP 0.566 0.692 0.65
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 2
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C 		FAM20C golgi associated secretory pathway kinase 0.578 0.731 0.31
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 81857
Gene Symbol: MED25
MED25 		mediator complex subunit 25 0.582 0.654 8.4E-07
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 2
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A 		protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3 		ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 8913
Gene Symbol: CACNA1G
CACNA1G 		calcium voltage-gated channel subunit alpha1 G 0.590 0.577 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1 		KAT8 regulatory NSL complex subunit 1 0.592 0.731 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1