×
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