Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1313319892
rs1313319892
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism. 28480548 2017
dbSNP: rs1553212545
rs1553212545
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism. 28480548 2017
dbSNP: rs1553212626
rs1553212626
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
CUI: C0432072
Disease:
Dysmorphic features 		CA 0.700 CausalMutation CLINVAR Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism. 28480548 2017
dbSNP: rs1553212978
rs1553212978
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
CUI: C0432072
Disease:
Dysmorphic features 		CT 0.700 CausalMutation CLINVAR Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism. 28480548 2017
dbSNP: rs864321674
rs864321674
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism. 28480548 2017
dbSNP: rs1313319892
rs1313319892
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR POGZ truncating alleles cause syndromic intellectual disability. 26739615 2016
dbSNP: rs1313319892
rs1313319892
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. 26942287 2016
dbSNP: rs1553212545
rs1553212545
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR POGZ truncating alleles cause syndromic intellectual disability. 26739615 2016
dbSNP: rs1553212545
rs1553212545
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. 26942287 2016
dbSNP: rs1553212626
rs1553212626
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
CUI: C0432072
Disease:
Dysmorphic features 		CA 0.700 CausalMutation CLINVAR Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. 26942287 2016
dbSNP: rs1553212626
rs1553212626
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
CUI: C0432072
Disease:
Dysmorphic features 		CA 0.700 CausalMutation CLINVAR POGZ truncating alleles cause syndromic intellectual disability. 26739615 2016
dbSNP: rs1553212978
rs1553212978
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
CUI: C0432072
Disease:
Dysmorphic features 		CT 0.700 CausalMutation CLINVAR Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. 26942287 2016
dbSNP: rs1553212978
rs1553212978
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
CUI: C0432072
Disease:
Dysmorphic features 		CT 0.700 CausalMutation CLINVAR POGZ truncating alleles cause syndromic intellectual disability. 26739615 2016
dbSNP: rs864321674
rs864321674
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR POGZ truncating alleles cause syndromic intellectual disability. 26739615 2016
dbSNP: rs864321674
rs864321674
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. 26942287 2016
dbSNP: rs1313319892
rs1313319892
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR A case of autism spectrum disorder arising from a de novo missense mutation in POGZ. 25694107 2015
dbSNP: rs1313319892
rs1313319892
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
dbSNP: rs1313319892
rs1313319892
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly. 27148570 2015
dbSNP: rs1553212545
rs1553212545
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR A case of autism spectrum disorder arising from a de novo missense mutation in POGZ. 25694107 2015
dbSNP: rs1553212545
rs1553212545
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly. 27148570 2015
dbSNP: rs1553212545
rs1553212545
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
dbSNP: rs1553212626
rs1553212626
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
CUI: C0432072
Disease:
Dysmorphic features 		CA 0.700 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
dbSNP: rs1553212626
rs1553212626
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
CUI: C0432072
Disease:
Dysmorphic features 		CA 0.700 CausalMutation CLINVAR A case of autism spectrum disorder arising from a de novo missense mutation in POGZ. 25694107 2015
dbSNP: rs1553212626
rs1553212626
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
CUI: C0432072
Disease:
Dysmorphic features 		CA 0.700 CausalMutation CLINVAR De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly. 27148570 2015
dbSNP: rs1553212978
rs1553212978
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
CUI: C0432072
Disease:
Dysmorphic features 		CT 0.700 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015