Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57688
Gene Symbol: ZSWIM6
ZSWIM6
CUI: C1863616
Disease: ACROMELIC FRONTONASAL DYSOSTOSIS
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
CUI: C1863616
Disease: ACROMELIC FRONTONASAL DYSOSTOSIS
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
CUI: C1863616
Disease: ACROMELIC FRONTONASAL DYSOSTOSIS
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
CUI: C4693405
Disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES
NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES 		0.400 CausalMutation CLINVAR

Entrez Id: 57688
Gene Symbol: ZSWIM6
ZSWIM6
CUI: C0036857
Disease: Severe intellectual disability
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
CUI: C0000772
Disease: Multiple congenital anomalies
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
CUI: C0000772
Disease: Multiple congenital anomalies
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
CUI: C0000772
Disease: Multiple congenital anomalies
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
CUI: C0026827
Disease: Muscle hypotonia
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
CUI: C0026827
Disease: Muscle hypotonia
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
CUI: C0026827
Disease: Muscle hypotonia
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
CUI: C0432072
Disease: Dysmorphic features
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
CUI: C0432072
Disease: Dysmorphic features
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
CUI: C0432072
Disease: Dysmorphic features
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
CUI: C1838625
Disease: Warburg Sjo Fledelius syndrome
Warburg Sjo Fledelius syndrome 		0.110 CausalMutation CLINVAR

Entrez Id: 84083
Gene Symbol: ZRANB3
ZRANB3
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.100 CausalMutation CLINVAR

Entrez Id: 84083
Gene Symbol: ZRANB3
ZRANB3
CUI: C0266544
Disease: Microcornea
Microcornea 		0.100 CausalMutation CLINVAR

Entrez Id: 84083
Gene Symbol: ZRANB3
ZRANB3
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 CausalMutation CLINVAR

Entrez Id: 84083
Gene Symbol: ZRANB3
ZRANB3
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.100 CausalMutation CLINVAR

Entrez Id: 7784
Gene Symbol: ZP3
ZP3
CUI: C4540205
Disease: OOCYTE MATURATION DEFECT 3
OOCYTE MATURATION DEFECT 3 		0.600 CausalMutation CLINVAR

Entrez Id: 7784
Gene Symbol: ZP3
ZP3
CUI: C1328577
Disease: Empty follicle syndrome
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
CUI: C4014291
Disease: OOCYTE MATURATION DEFECT 1
OOCYTE MATURATION DEFECT 1 		0.600 CausalMutation CLINVAR

Entrez Id: 9326
Gene Symbol: ZNHIT3
ZNHIT3
CUI: C1850055
Disease: PEHO syndrome
PEHO syndrome 		0.730 CausalMutation CLINVAR

Entrez Id: 7552
Gene Symbol: ZNF711
ZNF711
CUI: C2749020
Disease: Mental Retardation, X-Linked, Znf711-Related
Mental Retardation, X-Linked, Znf711-Related 		0.600 CausalMutation CLINVAR

Entrez Id: 7552
Gene Symbol: ZNF711
ZNF711
CUI: C2749020
Disease: Mental Retardation, X-Linked, Znf711-Related
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