Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.410 Biomarker GENOMICS_ENGLAND Mutations in different components of FGF signaling in LADD syndrome. 16501574

2006
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.410 Biomarker GENOMICS_ENGLAND An evolutionarily conserved U5 snRNP-specific protein is a GTP-binding factor closely related to the ribosomal translocase EF-2. 9233818

1997
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.400 Biomarker GENOMICS_ENGLAND Inappropriate p53 activation during development induces features of CHARGE syndrome. 25119037

2014
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.400 Biomarker GENOMICS_ENGLAND Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause. 24003905

2014
Entrez Id: 1723
Gene Symbol: DHODH
DHODH
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.400 Biomarker GENOMICS_ENGLAND Miller syndrome with novel dihydroorotate dehydrogenase gene mutations. 21851494

2011
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.400 Biomarker GENOMICS_ENGLAND Mutations in different components of FGF signaling in LADD syndrome. 16501574

2006
Entrez Id: 81620
Gene Symbol: CDT1
CDT1
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.400 Biomarker GENOMICS_ENGLAND Structural basis for inhibition of the replication licensing factor Cdt1 by geminin. 15286659

2004
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.400 Biomarker GENOMICS_ENGLAND Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. 9973281

1999
Entrez Id: 990
Gene Symbol: CDC6
CDC6
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.400 Biomarker GENOMICS_ENGLAND Human CDC6/Cdc18 associates with Orc1 and cyclin-cdk and is selectively eliminated from the nucleus at the onset of S phase. 9566895

1998
Entrez Id: 9533
Gene Symbol: POLR1C
POLR1C
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.400 Biomarker GENOMICS_ENGLAND Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning. 9653160

1998
Entrez Id: 6949
Gene Symbol: TCOF1
TCOF1
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.400 Biomarker GENOMICS_ENGLAND Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle. 9736782

1998
Entrez Id: 5000
Gene Symbol: ORC4
ORC4
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.400 Biomarker GENOMICS_ENGLAND Assignment of the homologue of the yeast origin recognition complex subunit ORC4 (ORC4L) to human chromosome band 2q22-->q23 by in situ hybridization and somatic cell hybrid analysis. 9691185

1998
Entrez Id: 6495
Gene Symbol: SIX1
SIX1
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.400 Biomarker GENOMICS_ENGLAND Abrogation of the G2 cell cycle checkpoint associated with overexpression of HSIX1: a possible mechanism of breast carcinogenesis. 9770533

1998
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.400 Biomarker GENOMICS_ENGLAND Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome. 9603436

1998
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.400 Biomarker GENOMICS_ENGLAND Physical and genetic localization of the gene encoding the AP-2 transcription factor to mouse chromosome 13. 8824807

1996
Entrez Id: 51082
Gene Symbol: POLR1D
POLR1D
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.400 Biomarker GENOMICS_ENGLAND Mouse RNA polymerase I 16-kDa subunit able to associate with 40-kDa subunit is a homolog of yeast AC19 subunit of RNA polymerases I and III. 8955128

1996
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.400 Biomarker GENOMICS_ENGLAND Expression of the HsOrc1 gene, a human ORC1 homolog, is regulated by cell proliferation via the E2F transcription factor. 8943353

1996
Entrez Id: 23594
Gene Symbol: ORC6
ORC6
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.400 Biomarker GENOMICS_ENGLAND Clinical identification of a human equivalent to the short ear (se) murine phenotype. 7710253

1994
Entrez Id: 3166
Gene Symbol: HMX1
HMX1
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.320 Biomarker GENOMICS_ENGLAND Assignment of the murine Hmx1 homeobox gene to the proximal region of mouse chromosome 5. 9337406

1997
Entrez Id: 145258
Gene Symbol: GSC
GSC
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.310 Biomarker GENOMICS_ENGLAND Nasal and pharyngeal abnormalities caused by the mouse goosecoid gene mutation. 9144415

1997
Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 653
Gene Symbol: BMP5
BMP5
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 5332
Gene Symbol: PLCB4
PLCB4
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.300 Biomarker GENOMICS_ENGLAND A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. 22560091

2012
Entrez Id: 1909
Gene Symbol: EDNRA
EDNRA
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.300 Biomarker GENOMICS_ENGLAND Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome? 20583178

2010
Entrez Id: 23426
Gene Symbol: GRIP1
GRIP1
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.300 Biomarker GENOMICS_ENGLAND Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects. 16880404

2006