Source: GENOMICS_ENGLAND

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: 2222
Gene Symbol: FDFT1
FDFT1 		farnesyl-diphosphate farnesyltransferase 1 0.621 0.615 4.1E-15
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		phenotype 0.300 moderate 1.000 1 0 2018 2018
Entrez Id: 23036
Gene Symbol: ZNF292
ZNF292 		zinc finger protein 292 0.695 0.423 1.00
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		phenotype 0.300 moderate 1.000 1 0 2018 2018
Entrez Id: 23476
Gene Symbol: BRD4
BRD4 		bromodomain containing 4 0.446 0.885 1.00
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		phenotype 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 4330
Gene Symbol: MN1
MN1 		MN1 proto-oncogene, transcriptional regulator 0.682 0.385 1.00
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		phenotype 0.300 None 1.000 1 0 2005 2005
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4 		trafficking protein particle complex 4 0.805 0.308 4.1E-06
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		phenotype 0.300 None 1.000 1 0 2020 2020
Entrez Id: 57700
Gene Symbol: FAM160B1
FAM160B1 		family with sequence similarity 160 member B1 0.861 0.192 1.00
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		phenotype 0.300 limited 1.000 1 0 2019 2019
Entrez Id: 7360
Gene Symbol: UGP2
UGP2 		UDP-glucose pyrophosphorylase 2 0.711 0.308 1.4E-08
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		phenotype 0.300 None 1.000 1 0 2020 2020
Entrez Id: 9698
Gene Symbol: PUM1
PUM1 		pumilio RNA binding family member 1 0.653 0.654 1.00
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		phenotype 0.300 None 1.000 1 0 2020 2020
Entrez Id: 200424
Gene Symbol: TET3
TET3 		tet methylcytosine dioxygenase 3 0.633 0.615 1.00
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		phenotype 0.300 None 0 0