Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3199
Gene Symbol: HOXA2
HOXA2 		0.450 GeneticVariation disease BEFREE Further study is needed to prove the function of 2 novel variants in the 5'UTR of HOXA2, and to explore the possible mechanism of these variants in the occurrence of microtia. 28109504 2017
Entrez Id: 3199
Gene Symbol: HOXA2
HOXA2 		0.450 GeneticVariation disease BEFREE This study confirms the role of HOXA2 gene in dominant isolated microtia and contribute to further define the dysmorphogenetic effect of this gene on ear development. 27503514 2017
Entrez Id: 3199
Gene Symbol: HOXA2
HOXA2 		0.450 GeneticVariation disease BEFREE Our data extend these conclusions and define HOXA2 haploinsufficiency as the first genetic cause for autosomal-dominant nonsyndromic microtia. 23775976 2013
Entrez Id: 3199
Gene Symbol: HOXA2
HOXA2 		0.450 GermlineCausalMutation disease ORPHANET HOXA2 has been shown to be critical for outer and middle ear development through mouse models and has previously been associated with autosomal recessive bilateral microtia. 23775976 2013
Entrez Id: 3199
Gene Symbol: HOXA2
HOXA2 		0.450 GeneticVariation disease BEFREE Mutations in the homeobox gene HOXA2 caused microtia in a single Iranian family. 20542577 2010
Entrez Id: 3199
Gene Symbol: HOXA2
HOXA2 		0.450 GeneticVariation disease BEFREE A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family. 18394579 2008
Entrez Id: 3199
Gene Symbol: HOXA2
HOXA2 		0.450 Biomarker disease HPO
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.410 GeneticVariation disease BEFREE Fetal microtia and FGFR2 polymorphism. 31258676 2019
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2 		0.410 GeneticVariation disease BEFREE We recommend consideration of EFTUD2 testing in individuals with features of oculo-auriculo-vertebral spectrum and bilateral microtia, or individuals with atypical CHARGE syndrome who do not have a CHD7 mutation, particularly those with a zygomatic arch cleft. 23239648 2013
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.410 Biomarker disease GENOMICS_ENGLAND Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2 		0.410 Biomarker disease 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: 9343
Gene Symbol: EFTUD2
EFTUD2 		0.410 Biomarker disease HPO
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.410 Biomarker disease HPO
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.400 Biomarker disease GENOMICS_ENGLAND Inappropriate p53 activation during development induces features of CHARGE syndrome. 25119037 2014
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4 		0.400 Biomarker disease GENOMICS_ENGLAND Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause. 24003905 2014
Entrez Id: 1723
Gene Symbol: DHODH
DHODH 		0.400 Biomarker disease GENOMICS_ENGLAND Miller syndrome with novel dihydroorotate dehydrogenase gene mutations. 21851494 2011
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.400 Biomarker disease GENOMICS_ENGLAND Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
Entrez Id: 81620
Gene Symbol: CDT1
CDT1 		0.400 Biomarker disease GENOMICS_ENGLAND Structural basis for inhibition of the replication licensing factor Cdt1 by geminin. 15286659 2004
Entrez Id: 6299
Gene Symbol: SALL1
SALL1 		0.400 Biomarker disease GENOMICS_ENGLAND Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. 9973281 1999
Entrez Id: 990
Gene Symbol: CDC6
CDC6 		0.400 Biomarker disease 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 		0.400 Biomarker disease 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 		0.400 Biomarker disease 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 		0.400 Biomarker disease 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 		0.400 Biomarker disease 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 		0.400 Biomarker disease GENOMICS_ENGLAND Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome. 9603436 1998