RALA, RAS like proto-oncogene A, 5898

N. diseases: 45; N. variants: 1
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554297905
rs1554297905
Entrez Id: 5898
Gene Symbol: RALA
RALA
CUI: C0856975
Disease:
Autistic behavior
A 0.700 CausalMutation CLINVAR De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. 30500825 2018
dbSNP: rs1554297905
rs1554297905
Entrez Id: 5898
Gene Symbol: RALA
RALA
CUI: C0026351
Disease:
Moderate intellectual disability
A 0.700 CausalMutation CLINVAR De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. 30500825 2018
dbSNP: rs1554297905
rs1554297905
Entrez Id: 5898
Gene Symbol: RALA
RALA
CUI: C0424503
Disease:
Dysmorphic facies
A 0.700 CausalMutation CLINVAR De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. 30500825 2018
dbSNP: rs1554297905
rs1554297905
Entrez Id: 5898
Gene Symbol: RALA
RALA
CUI: C4551563
Disease:
Microcephaly (physical finding)
A 0.700 CausalMutation CLINVAR De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. 30500825 2018
dbSNP: rs1554297905
rs1554297905
Entrez Id: 5898
Gene Symbol: RALA
RALA
CUI: C1850049
Disease:
Clinodactyly of the 5th finger
A 0.700 CausalMutation CLINVAR De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. 30500825 2018
dbSNP: rs1554297905
rs1554297905
Entrez Id: 5898
Gene Symbol: RALA
RALA
CUI: C0233715
Disease:
Speech impairment
A 0.700 CausalMutation CLINVAR De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. 30500825 2018