Disease: Oculomelic amyoplasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777076
rs587777076
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C1862472
Disease:
Oculomelic amyoplasia 		0.800 GeneticVariation UNIPROT Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 24726473 2014
dbSNP: rs587777452
rs587777452
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C1862472
Disease:
Oculomelic amyoplasia 		G 0.800 CausalMutation CLINVAR Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 24726473 2014
dbSNP: rs587777452
rs587777452
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C1862472
Disease:
Oculomelic amyoplasia 		0.800 GeneticVariation UNIPROT Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 24726473 2014
dbSNP: rs587777452
rs587777452
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C1862472
Disease:
Oculomelic amyoplasia 		A 0.800 CausalMutation CLINVAR Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 24726473 2014
dbSNP: rs587777453
rs587777453
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C1862472
Disease:
Oculomelic amyoplasia 		0.800 GeneticVariation UNIPROT Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 24726473 2014
dbSNP: rs587777453
rs587777453
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C1862472
Disease:
Oculomelic amyoplasia 		C 0.800 CausalMutation CLINVAR Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 24726473 2014
dbSNP: rs587777454
rs587777454
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C1862472
Disease:
Oculomelic amyoplasia 		0.800 GeneticVariation UNIPROT Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 24726473 2014
dbSNP: rs587777454
rs587777454
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C1862472
Disease:
Oculomelic amyoplasia 		G 0.800 CausalMutation CLINVAR Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 24726473 2014
dbSNP: rs587777076
rs587777076
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C1862472
Disease:
Oculomelic amyoplasia 		0.800 GeneticVariation UNIPROT Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. 23487782 2013
dbSNP: rs587777452
rs587777452
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C1862472
Disease:
Oculomelic amyoplasia 		0.800 GeneticVariation UNIPROT Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. 23487782 2013
dbSNP: rs587777453
rs587777453
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C1862472
Disease:
Oculomelic amyoplasia 		0.800 GeneticVariation UNIPROT Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. 23487782 2013
dbSNP: rs587777454
rs587777454
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C1862472
Disease:
Oculomelic amyoplasia 		0.800 GeneticVariation UNIPROT Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. 23487782 2013
dbSNP: rs587777076
rs587777076
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C1862472
Disease:
Oculomelic amyoplasia 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1555621138
rs1555621138
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C1862472
Disease:
Oculomelic amyoplasia 		A 0.700 CausalMutation CLINVAR Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 24726473 2014
dbSNP: rs587777450
rs587777450
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C1862472
Disease:
Oculomelic amyoplasia 		T 0.700 CausalMutation CLINVAR Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 24726473 2014
dbSNP: rs878853135
rs878853135
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C1862472
Disease:
Oculomelic amyoplasia 		A 0.700 CausalMutation CLINVAR Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 24726473 2014
dbSNP: rs878853137
rs878853137
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C1862472
Disease:
Oculomelic amyoplasia 		A 0.700 CausalMutation CLINVAR Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 24726473 2014
dbSNP: rs878853138
rs878853138
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C1862472
Disease:
Oculomelic amyoplasia 		A 0.700 CausalMutation CLINVAR Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 24726473 2014
dbSNP: rs878853139
rs878853139
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C1862472
Disease:
Oculomelic amyoplasia 		A 0.700 CausalMutation CLINVAR Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 24726473 2014
dbSNP: rs878853140
rs878853140
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C1862472
Disease:
Oculomelic amyoplasia 		G 0.700 CausalMutation CLINVAR Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 24726473 2014