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: 63979
Gene Symbol: FIGNL1
FIGNL1 		fidgetin like 1 0.805 0.385 1.2E-04
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3 		steroid 5 alpha-reductase 3 0.604 0.692 2.5E-04
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 2312
Gene Symbol: FLG
FLG 		filaggrin 0.525 0.846 2.9E-04
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 79228
Gene Symbol: THOC6
THOC6 		THO complex 6 0.705 0.577 4.8E-04
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 2
Entrez Id: 7274
Gene Symbol: TTPA
TTPA 		alpha tocopherol transfer protein 0.612 0.577 1.4E-03
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 50801
Gene Symbol: KCNK4
KCNK4 		potassium two pore domain channel subfamily K member 4 0.743 0.385 5.7E-03
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 2
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: 9990
Gene Symbol: SLC12A6
SLC12A6 		solute carrier family 12 member 6 0.603 0.500 1.1E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 4247
Gene Symbol: MGAT2
MGAT2 		alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 0.650 0.577 3.4E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 8021
Gene Symbol: NUP214
NUP214 		nucleoporin 214 0.638 0.385 5.5E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B 		exocyst complex component 6B 0.682 0.577 0.12
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 1.000 2 1 2013 2014
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: 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: 120534
Gene Symbol: ARL14EP
ARL14EP 		ADP ribosylation factor like GTPase 14 effector protein 0.861 0.192 0.38
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 1024
Gene Symbol: CDK8
CDK8 		cyclin dependent kinase 8 0.597 0.654 0.41
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: 6857
Gene Symbol: SYT1
SYT1 		synaptotagmin 1 0.412 0.846 0.60
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 55617
Gene Symbol: TASP1
TASP1 		taspase 1 0.805 0.346 0.61
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: 998
Gene Symbol: CDC42
CDC42 		cell division cycle 42 0.458 0.846 0.79
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 3
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2 		BR serine/threonine kinase 2 0.700 0.500 0.95
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 5898
Gene Symbol: RALA
RALA 		RAS like proto-oncogene A 0.656 0.577 0.97
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 1.000 1 1 2018 2018
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: 55869
Gene Symbol: HDAC8
HDAC8 		histone deacetylase 8 0.511 0.885 0.98
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 2