Hypomagnesemia

Disease Term Disease ID Gene Symbol Classification References Source
Hypomagnesemia 2, renal C1835171 ATP1A1 Causal Pathogenic evidence from ClinVar - ClinVar
CLDN16 Causal Pathogenic evidence from ClinVar - ClinVar
CLDN19 Causal Pathogenic evidence from ClinVar - ClinVar
SLC12A3 Causal Pathogenic evidence from ClinVar - ClinVar
FXYD2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11062458, 17980699, 25765846, 27604308 -
FXYD6-FXYD2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HNF1B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19389850 -
IFT122 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Primary hypomagnesemia (disorder) C0268448 CLDN16 Causal Pathogenic evidence from ClinVar 10390358, 10878661, 11518780, 15856319, 16234325, 18816383, 20607983, 25477417, 26426912, 27604308 ClinVar
FXYD2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11062458 -
HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT C4721891 CLDN19 Causal Pathogenic evidence from ClinVar 500385, 17033971, 27530400 ClinVar
Isolated autosomal dominant hypomagnesemia, Glaudemans type 199326 KCNA1 Causal Pathogenic evidence from ClinVar - ClinVar