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: 815
Gene Symbol: CAMK2A
CAMK2A 		calcium/calmodulin dependent protein kinase II alpha 0.612 0.538 1.00
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		phenotype 0.100 None 1.000 1 4 2017 2017
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		calcium/calmodulin dependent protein kinase II beta 0.626 0.538 0.74
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		phenotype 0.100 None 1.000 1 2 2017 2017
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		phenotype 0.100 None 0 1
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		cytochrome P450 family 27 subfamily A member 1 0.538 0.731 5.3E-19
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		phenotype 0.100 None 0 1
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8 		histone deacetylase 8 0.511 0.885 0.98
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		phenotype 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		phenotype 0.100 None 0 1
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		phenotype 0.100 None 0 9
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		phenotype 0.100 None 0 4
Entrez Id: 79728
Gene Symbol: PALB2
PALB2 		partner and localizer of BRCA2 0.485 0.769 3.0E-19
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		phenotype 0.100 None 0 1