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: 8621
Gene Symbol: CDK13
CDK13 		cyclin dependent kinase 13 0.606 0.692 0.91
CUI: C1853241
Disease: Flat face
Flat face 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C1853241
Disease: Flat face
Flat face 		phenotype 0.100 None 0 1
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C1853241
Disease: Flat face
Flat face 		phenotype 0.100 None 0 1
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		potassium voltage-gated channel subfamily Q member 1 0.485 0.769 4.5E-08
CUI: C1853241
Disease: Flat face
Flat face 		phenotype 0.100 None 0 1
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		peroxisomal biogenesis factor 6 0.547 0.731 6.3E-06
CUI: C1853241
Disease: Flat face
Flat face 		phenotype 0.100 None 0 2
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220 		kinase D interacting substrate 220 0.534 0.769 7.4E-02
CUI: C1853241
Disease: Flat face
Flat face 		phenotype 0.100 None 0 1