Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777450
rs587777450
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0008925
Disease:
Cleft Palate 		0.010 GeneticVariation BEFREE The presence of cleft palate was significantly associated with c.8057G>A (Fisher's exact test, adjusted p value < 0.0001). 24726473 2014
dbSNP: rs587777450
rs587777450
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C1837218
Disease:
Cleft palate, isolated 		0.010 GeneticVariation BEFREE The presence of cleft palate was significantly associated with c.8057G>A (Fisher's exact test, adjusted p value < 0.0001). 24726473 2014
dbSNP: rs587777450
rs587777450
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C2981150
Disease:
Uranostaphyloschisis 		0.010 GeneticVariation BEFREE The presence of cleft palate was significantly associated with c.8057G>A (Fisher's exact test, adjusted p value < 0.0001). 24726473 2014
dbSNP: rs587777076
rs587777076
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C1862472
Disease:
Oculomelic amyoplasia 		A 0.800 CausalMutation CLINVAR
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: 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 		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 		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 		G 0.800 CausalMutation CLINVAR Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 24726473 2014
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: rs1057519425
rs1057519425
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C4310692
Disease:
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1057519426
rs1057519426
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C4310692
Disease:
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH 		TTCG 0.700 CausalMutation CLINVAR
dbSNP: rs1057519626
rs1057519626
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C4310692
Disease:
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH 		A 0.700 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: rs1555621138
rs1555621138
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0265213
Disease:
Distal arthrogryposis syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555630216
rs1555630216
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0026034
Disease:
Microstomia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555630216
rs1555630216
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0476403
Disease:
Electromyogram abnormal 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555630216
rs1555630216
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0575803
Disease:
Radial deviation of hand 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555630216
rs1555630216
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C4021251
Disease:
Dysplasia of the femoral head 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555630216
rs1555630216
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C1853743
Disease:
Muscular hypotonia of the trunk 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555630216
rs1555630216
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C1837658
Disease:
Gross motor development delay 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555630216
rs1555630216
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0040433
Disease:
Tooth Crowding 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555630216
rs1555630216
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C4021742
Disease:
Abnormality of the humerus 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555630216
rs1555630216
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C1851313
Disease:
Limited shoulder movement 		T 0.700 CausalMutation CLINVAR