×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
0.100
GeneticVariation
group
CLINVAR
×
Entrez Id:
8828
Gene Symbol:
NRP2
NRP2
0.100
GeneticVariation
group
CLINVAR
×
Entrez Id:
54880
Gene Symbol:
BCOR
BCOR
0.100
CausalMutation
group
CLINVAR
×
Entrez Id:
4528
Gene Symbol:
MTIF2
MTIF2
0.100
GeneticVariation
group
CLINVAR
×
Entrez Id:
6605
Gene Symbol:
SMARCE1
SMARCE1
0.100
GeneticVariation
group
CLINVAR
×
Entrez Id:
4709
Gene Symbol:
NDUFB3
NDUFB3
0.100
CausalMutation
group
CLINVAR
×
Entrez Id:
26053
Gene Symbol:
AUTS2
AUTS2
0.100
GeneticVariation
group
CLINVAR
×
Entrez Id:
3516
Gene Symbol:
RBPJ
RBPJ
0.100
GeneticVariation
group
CLINVAR
×
Entrez Id:
9343
Gene Symbol:
EFTUD2
EFTUD2
0.100
CausalMutation
group
CLINVAR
"""Mandibulofacial dysostosis with microcephaly"" caused by EFTUD2 mutations: expanding the phenotype."
23239648
2013
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.400
GeneticVariation
group
CLINVAR
"Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in ""lost"" descendants of the original kindred."
11343323
2001
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.400
CausalMutation
group
CLINVAR
"Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in ""lost"" descendants of the original kindred."
11343323
2001
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
0.100
CausalMutation
group
CLINVAR
"Hypertrichosis ""cubiti"" with facial asymmetry."
7802037
1994
×
Entrez Id:
5290
Gene Symbol:
PIK3CA
PIK3CA
0.100
GeneticVariation
group
CLINVAR
"Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ""PIK3CA-Related Overgrowth Spectrum""."
26593112
2016
×
Entrez Id:
10381
Gene Symbol:
TUBB3
TUBB3
0.100
CausalMutation
group
CLINVAR
β-Tubulin mutations that cause severe neuropathies disrupt axonal transport.
23503589
2013
×
Entrez Id:
2186
Gene Symbol:
BPTF
BPTF
0.100
CausalMutation
group
CLINVAR
17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations.
22166941
2012
×
Entrez Id:
23314
Gene Symbol:
SATB2
SATB2
0.100
CausalMutation
group
CLINVAR
4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate.
19576302
2010
×
Entrez Id:
23314
Gene Symbol:
SATB2
SATB2
0.100
GeneticVariation
group
CLINVAR
4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate.
19576302
2010
×
Entrez Id:
7026
Gene Symbol:
NR2F2
NR2F2
0.100
CausalMutation
group
CLINVAR
5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects.
21172461
2011
×
Entrez Id:
7026
Gene Symbol:
NR2F2
NR2F2
0.100
GeneticVariation
group
CLINVAR
5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects.
21172461
2011
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
0.100
GeneticVariation
group
CLINVAR
54th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE). Barcelona, Spain, October 1-3, 2015: Abstracts.
26394394
2015
×
Entrez Id:
5290
Gene Symbol:
PIK3CA
PIK3CA
0.100
GeneticVariation
group
CLINVAR
PIK3CA -associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
27631024
2016
×
Entrez Id:
10274
Gene Symbol:
STAG1
STAG1
0.100
GeneticVariation
group
CLINVAR
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
28119487
2017
×
Entrez Id:
10236
Gene Symbol:
HNRNPR
HNRNPR
0.100
GeneticVariation
group
CLINVAR
A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome.
17603806
2007
×
Entrez Id:
2186
Gene Symbol:
BPTF
BPTF
0.100
CausalMutation
group
CLINVAR
A 2.3Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'.
18848651
2009
×
Entrez Id:
5894
Gene Symbol:
RAF1
RAF1
0.100
GeneticVariation
group
CLINVAR
A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1.
23613113
2013