rs200956636, RAB27A

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
GRISCELLI SYNDROME, TYPE 2
CUI: C1868679
Disease: GRISCELLI SYNDROME, TYPE 2
0.700 CausalMutation CLINVAR Griscelli syndrome. 25500851 2014
GRISCELLI SYNDROME, TYPE 2
CUI: C1868679
Disease: GRISCELLI SYNDROME, TYPE 2
0.700 CausalMutation CLINVAR An Indian boy with griscelli syndrome type 2: case report and review of literature. 25071262 2014
GRISCELLI SYNDROME, TYPE 2
CUI: C1868679
Disease: GRISCELLI SYNDROME, TYPE 2
0.700 CausalMutation CLINVAR Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations. 19953648 2010
GRISCELLI SYNDROME, TYPE 2
CUI: C1868679
Disease: GRISCELLI SYNDROME, TYPE 2
0.700 CausalMutation CLINVAR Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure. 19030707 2008
GRISCELLI SYNDROME, TYPE 2
CUI: C1868679
Disease: GRISCELLI SYNDROME, TYPE 2
0.700 CausalMutation CLINVAR A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome. 18397837 2008
GRISCELLI SYNDROME, TYPE 2
CUI: C1868679
Disease: GRISCELLI SYNDROME, TYPE 2
0.700 CausalMutation CLINVAR Griscelli syndrome: Rab 27a mutation. 15475639 2004
GRISCELLI SYNDROME, TYPE 2
CUI: C1868679
Disease: GRISCELLI SYNDROME, TYPE 2
0.700 CausalMutation CLINVAR Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. 10835631 2000
Coughing
CUI: C0010200
Disease: Coughing
0.700 GeneticVariation CLINVAR
Generalized seizures
CUI: C0234533
Disease: Generalized seizures
0.700 GeneticVariation CLINVAR
Fever
CUI: C0015967
Disease: Fever
0.700 GeneticVariation CLINVAR
GRISCELLI SYNDROME, TYPE 2
CUI: C1868679
Disease: GRISCELLI SYNDROME, TYPE 2
0.700 GeneticVariation CLINVAR
Large clumps of pigment irregularly distributed along hair shaft
CUI: C4025315
Disease: Large clumps of pigment irregularly distributed along hair shaft
0.700 GeneticVariation CLINVAR