KIAA0753, KIAA0753, 9851

N. diseases: 82; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555531363
rs1555531363
Entrez Id: 9851
Gene Symbol: KIAA0753
KIAA0753
CUI: C0431399
Disease:
Familial aplasia of the vermis
T 0.700 CausalMutation CLINVAR Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies. 29138412 2017
dbSNP: rs1555531363
rs1555531363
Entrez Id: 9851
Gene Symbol: KIAA0753
KIAA0753
CUI: C0265275
Disease:
Jeune thoracic dystrophy
T 0.700 CausalMutation CLINVAR Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies. 29138412 2017
dbSNP: rs746068882
rs746068882
Entrez Id: 9851
Gene Symbol: KIAA0753
KIAA0753
CUI: C0265275
Disease:
Jeune thoracic dystrophy
A 0.700 CausalMutation CLINVAR Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies. 29138412 2017
dbSNP: rs746068882
rs746068882
Entrez Id: 9851
Gene Symbol: KIAA0753
KIAA0753
CUI: C0431399
Disease:
Familial aplasia of the vermis
A 0.700 CausalMutation CLINVAR Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies. 29138412 2017
dbSNP: rs762771340
rs762771340
Entrez Id: 9851
Gene Symbol: KIAA0753
KIAA0753
CUI: C0265275
Disease:
Jeune thoracic dystrophy
A 0.700 CausalMutation CLINVAR Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies. 29138412 2017
dbSNP: rs762771340
rs762771340
Entrez Id: 9851
Gene Symbol: KIAA0753
KIAA0753
CUI: C0431399
Disease:
Familial aplasia of the vermis
A 0.700 CausalMutation CLINVAR Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies. 29138412 2017
dbSNP: rs752659088
rs752659088
Entrez Id: 9851
Gene Symbol: KIAA0753
KIAA0753
CUI: C1832988
Disease:
Metaphyseal spurs
A 0.700 GeneticVariation CLINVAR
dbSNP: rs752659088
rs752659088
Entrez Id: 9851
Gene Symbol: KIAA0753
KIAA0753
CUI: C1837482
Disease:
Thoracic hypoplasia
A 0.700 GeneticVariation CLINVAR
dbSNP: rs752659088
rs752659088
Entrez Id: 9851
Gene Symbol: KIAA0753
KIAA0753
CUI: C0426817
Disease:
Short ribs
A 0.700 GeneticVariation CLINVAR
dbSNP: rs752659088
rs752659088
Entrez Id: 9851
Gene Symbol: KIAA0753
KIAA0753
CUI: C0431399
Disease:
Familial aplasia of the vermis
A 0.700 GeneticVariation CLINVAR
dbSNP: rs752659088
rs752659088
Entrez Id: 9851
Gene Symbol: KIAA0753
KIAA0753
CUI: C1854912
Disease:
Short long bone
A 0.700 GeneticVariation CLINVAR
dbSNP: rs752659088
rs752659088
Entrez Id: 9851
Gene Symbol: KIAA0753
KIAA0753
CUI: C4024597
Disease:
Aplasia/Hypoplasia involving the pelvis
A 0.700 GeneticVariation CLINVAR
dbSNP: rs752659088
rs752659088
Entrez Id: 9851
Gene Symbol: KIAA0753
KIAA0753
CUI: C1865060
Disease:
Molar tooth sign on MRI
A 0.700 GeneticVariation CLINVAR
dbSNP: rs752659088
rs752659088
Entrez Id: 9851
Gene Symbol: KIAA0753
KIAA0753
CUI: C0265275
Disease:
Jeune thoracic dystrophy
A 0.700 GeneticVariation CLINVAR