Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8626
Gene Symbol: TP63
TP63
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
0.720 Biomarker GENOMICS_ENGLAND

Entrez Id: 4487
Gene Symbol: MSX1
MSX1
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
0.700 Biomarker GENOMICS_ENGLAND Mutations in the MSX1 gene in Turkish children with non-syndromic tooth agenesis and other dental anomalies. 25565750

2014

Entrez Id: 5818
Gene Symbol: NECTIN1
NECTIN1
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
0.640 Biomarker GENOMICS_ENGLAND Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. 10932188

2000

Entrez Id: 652
Gene Symbol: BMP4
BMP4
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
0.430 Biomarker GENOMICS_ENGLAND

Entrez Id: 23133
Gene Symbol: PHF8
PHF8
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
0.420 Biomarker GENOMICS_ENGLAND

Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
0.410 Biomarker GENOMICS_ENGLAND Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome. 10767004

2000

Entrez Id: 57822
Gene Symbol: GRHL3
GRHL3
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
0.400 Biomarker GENOMICS_ENGLAND

Entrez Id: 50945
Gene Symbol: TBX22
TBX22
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
0.310 Biomarker GENOMICS_ENGLAND X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations. 22784330

2013

Entrez Id: 144100
Gene Symbol: PLEKHA7
PLEKHA7
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
0.300 Biomarker GENOMICS_ENGLAND Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate. 29805042

2018

Entrez Id: 80004
Gene Symbol: ESRP2
ESRP2
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
0.300 Biomarker GENOMICS_ENGLAND Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate. 29805042

2018

Entrez Id: 54477
Gene Symbol: PLEKHA5
PLEKHA5
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
0.300 Biomarker GENOMICS_ENGLAND Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate. 29805042

2018

Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
0.300 Biomarker GENOMICS_ENGLAND A mutation in the F-box gene, Fbxo11, causes otitis media in the Jeff mouse. 17035249

2006

Entrez Id: 7021
Gene Symbol: TFAP2B
TFAP2B
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 340419
Gene Symbol: RSPO2
RSPO2
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
0.300 Biomarker GENOMICS_ENGLAND