H421Y
H421Y · SaudiVarKB evidence summary derived from retained literature mentions.
2Variant mentions
2Publications
1Associated gene records
1Associated phenotype records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| SMPD1 | HGNC:11120 | 1 | 1 |
Associated phenotype records
Co-mentioned in the same publications| Phenotype | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Niemann-Pick disease | — | 2 | 2 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Saudi Arabia | — | 1 | 1 |
| Saudi Arabia | Cohort 394 | 1 | 1 |
Supporting publications
2 records- 2007Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child.Journal of inherited metabolic diseasePubMed ↗
- 2002The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.American journal of human geneticsPubMed ↗