×
Entrez Id:
57688
Gene Symbol:
ZSWIM6
ZSWIM6
ACROMELIC FRONTONASAL DYSOSTOSIS
0.740
CausalMutation
CLINVAR
Immunohistochemistry of later-stage mouse embryos demonstrated tissue-specific expression in the derivatives of all three germ layers. qRT-PCR expression analysis of osteoblast and fibroblast cell lines available from two probands was suggestive of Hedgehog pathway activation, indicating that the ZSWIM6 mutation associated with AFND may lead to the craniofacial, brain and limb malformations through the disruption of Hedgehog signaling.
25105228
2014
×
Entrez Id:
57688
Gene Symbol:
ZSWIM6
ZSWIM6
ACROMELIC FRONTONASAL DYSOSTOSIS
0.740
GeneticVariation
CLINVAR
Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.
26706854
2016
×
Entrez Id:
57688
Gene Symbol:
ZSWIM6
ZSWIM6
ACROMELIC FRONTONASAL DYSOSTOSIS
0.740
GeneticVariation
CLINVAR
Immunohistochemistry of later-stage mouse embryos demonstrated tissue-specific expression in the derivatives of all three germ layers. qRT-PCR expression analysis of osteoblast and fibroblast cell lines available from two probands was suggestive of Hedgehog pathway activation, indicating that the ZSWIM6 mutation associated with AFND may lead to the craniofacial, brain and limb malformations through the disruption of Hedgehog signaling.
25105228
2014
×
Entrez Id:
57688
Gene Symbol:
ZSWIM6
ZSWIM6
NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES
0.400
CausalMutation
CLINVAR
×
Entrez Id:
57688
Gene Symbol:
ZSWIM6
ZSWIM6
Severe intellectual disability
0.120
CausalMutation
CLINVAR
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
29198722
2017
×
Entrez Id:
57688
Gene Symbol:
ZSWIM6
ZSWIM6
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.
26706854
2016
×
Entrez Id:
57688
Gene Symbol:
ZSWIM6
ZSWIM6
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.
25105228
2014
×
Entrez Id:
57688
Gene Symbol:
ZSWIM6
ZSWIM6
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
29198722
2017
×
Entrez Id:
57688
Gene Symbol:
ZSWIM6
ZSWIM6
Muscle hypotonia
0.100
CausalMutation
CLINVAR
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
29198722
2017
×
Entrez Id:
57688
Gene Symbol:
ZSWIM6
ZSWIM6
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.
26706854
2016
×
Entrez Id:
57688
Gene Symbol:
ZSWIM6
ZSWIM6
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.
25105228
2014
×
Entrez Id:
57688
Gene Symbol:
ZSWIM6
ZSWIM6
Dysmorphic features
0.100
CausalMutation
CLINVAR
Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.
25105228
2014
×
Entrez Id:
57688
Gene Symbol:
ZSWIM6
ZSWIM6
Dysmorphic features
0.100
CausalMutation
CLINVAR
Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.
26706854
2016
×
Entrez Id:
57688
Gene Symbol:
ZSWIM6
ZSWIM6
Dysmorphic features
0.100
CausalMutation
CLINVAR
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
29198722
2017
×
Entrez Id:
84083
Gene Symbol:
ZRANB3
ZRANB3
Warburg Sjo Fledelius syndrome
0.110
CausalMutation
CLINVAR
×
Entrez Id:
84083
Gene Symbol:
ZRANB3
ZRANB3
Congenital cataract
0.100
CausalMutation
CLINVAR
×
Entrez Id:
84083
Gene Symbol:
ZRANB3
ZRANB3
Microcornea
0.100
CausalMutation
CLINVAR
×
Entrez Id:
84083
Gene Symbol:
ZRANB3
ZRANB3
Hypoplasia of corpus callosum
0.100
CausalMutation
CLINVAR
×
Entrez Id:
84083
Gene Symbol:
ZRANB3
ZRANB3
Sunken eyes
0.100
CausalMutation
CLINVAR
×
Entrez Id:
7784
Gene Symbol:
ZP3
ZP3
OOCYTE MATURATION DEFECT 3
0.600
CausalMutation
CLINVAR
×
Entrez Id:
7784
Gene Symbol:
ZP3
ZP3
Empty follicle syndrome
0.100
CausalMutation
CLINVAR
A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility.
28886344
2017
×
Entrez Id:
22917
Gene Symbol:
ZP1
ZP1
OOCYTE MATURATION DEFECT 1
0.600
CausalMutation
CLINVAR
×
Entrez Id:
9326
Gene Symbol:
ZNHIT3
ZNHIT3
PEHO syndrome
0.730
CausalMutation
CLINVAR
×
Entrez Id:
7552
Gene Symbol:
ZNF711
ZNF711
Mental Retardation, X-Linked, Znf711-Related
0.600
CausalMutation
CLINVAR
×
Entrez Id:
7552
Gene Symbol:
ZNF711
ZNF711
Mental Retardation, X-Linked, Znf711-Related
0.600
GeneticVariation
CLINVAR
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
19377476
2009