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: rs587777450
rs587777450
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0220666
Disease:
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA 		T 0.800 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: C0220666
Disease:
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA 		0.800 GeneticVariation UNIPROT Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 24726473 2014
dbSNP: rs587777451
rs587777451
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0796033
Disease:
MARDEN-WALKER SYNDROME 		0.800 GeneticVariation UNIPROT Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 24726473 2014
dbSNP: rs587777451
rs587777451
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0796033
Disease:
MARDEN-WALKER SYNDROME 		A 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 		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: rs11080466
rs11080466
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		C 0.800 GeneticVariation GWASCAT The 18p11.22 locus is associated with never smoker non-small cell lung cancer susceptibility in Korean populations. 21866343 2012
dbSNP: rs11080466
rs11080466
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		C 0.800 GeneticVariation GWASDB The 18p11.22 locus is associated with never smoker non-small cell lung cancer susceptibility in Korean populations. 21866343 2012
dbSNP: rs587777076
rs587777076
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C1862472
Disease:
Oculomelic amyoplasia 		A 0.800 CausalMutation CLINVAR
dbSNP: rs886039823
rs886039823
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C4310692
Disease:
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH 		0.800 GeneticVariation UNIPROT
dbSNP: rs886039823
rs886039823
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C4310692
Disease:
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1568069621
rs1568069621
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C3151520
Disease:
Early severe fetal akinesia sequence 		A 0.700 CausalMutation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123 2020
dbSNP: rs1568069621
rs1568069621
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0003886
Disease:
Arthrogryposis 		A 0.700 CausalMutation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123 2020
dbSNP: rs587777450
rs587777450
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0003886
Disease:
Arthrogryposis 		T 0.700 CausalMutation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123 2020
dbSNP: rs587777450
rs587777450
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C3151520
Disease:
Early severe fetal akinesia sequence 		T 0.700 CausalMutation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123 2020