rs200203460, CLPB

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
3-methylglutaconic aciduria type 7
CUI: C4225393
Disease: 3-methylglutaconic aciduria type 7
0.700 CausalMutation CLINVAR A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients. 28687938 2017
3-methylglutaconic aciduria type 7
CUI: C4225393
Disease: 3-methylglutaconic aciduria type 7
0.700 CausalMutation CLINVAR New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. 27290639 2016
3-methylglutaconic aciduria type 7
CUI: C4225393
Disease: 3-methylglutaconic aciduria type 7
0.700 CausalMutation CLINVAR CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. 25597510 2015
3-methylglutaconic aciduria type 7
CUI: C4225393
Disease: 3-methylglutaconic aciduria type 7
0.700 CausalMutation CLINVAR CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. 25597511 2015
Cleft palate, isolated
CUI: C1837218
Disease: Cleft palate, isolated
0.700 CausalMutation CLINVAR
Clinodactyly of fingers
CUI: C0265610
Disease: Clinodactyly of fingers
0.700 CausalMutation CLINVAR
Nystagmus
CUI: C0028738
Disease: Nystagmus
0.700 CausalMutation CLINVAR
Diminished sweating
CUI: C0553721
Disease: Diminished sweating
0.700 CausalMutation CLINVAR
Ulnar polydactyly of fingers
CUI: C0431904
Disease: Ulnar polydactyly of fingers
0.700 CausalMutation CLINVAR
Ectodermal Dysplasia
CUI: C0013575
Disease: Ectodermal Dysplasia
0.700 CausalMutation CLINVAR
Anxiety
CUI: C0003467
Disease: Anxiety
0.700 CausalMutation CLINVAR
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
0.700 CausalMutation CLINVAR