CNNM4, cyclin and CBS domain divalent metal cation transport mediator 4, 26504
N. diseases: 39; N. variants: 9
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
|
0.800 | GeneticVariation | UNIPROT | Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. | 19200527 | 2009 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. | 19200525 | 2009 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. | 19200527 | 2009 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. | 19200525 | 2009 | |||||||
|
|
|
C | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.800 | GeneticVariation | CLINVAR | |||||||||
|
|
|
A | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | ||||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.010 | GeneticVariation | BEFREE | Mutation p.R605X may cause Jalili syndrome by a nonsense-mediated decay mechanism, affecting the function of IQCB1 and apoptosis, or both. | 29322253 | 2018 |