ENTPD1
HGNC:3363 · SaudiVarKB evidence summary derived from retained literature mentions.
2Gene mentions
2Publications
12Linked variants
3Associated phenotypes
Associated phenotypes
Co-mentioned in ENTPD1 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| intellectual disability | HP:0001249 | 1 | 1 |
| neurodevelopmental disorder | HP:0012759 | 1 | 1 |
| recurrent pregnancy loss | — | 1 | 1 |
Linked variants
Variants normalized to ENTPD1| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| c.398_399delinsAA | c.398_399delinsAA | 1 | 1 |
| p.Gly133Glu | p.Gly133Glu | 1 | 1 |
| c.540del | c.540del | 1 | 1 |
| c.640del | c.640del | 1 | 1 |
| p.Leu62* | p.Leu62* | 1 | 1 |
| p.Gln323* | p.Gln323* | 1 | 1 |
| c.414-2_414-1del | c.414-2_414-1del | 1 | 1 |
| p.Tyr49Cys | p.Tyr49Cys | 1 | 1 |
| p.Leu370* | p.Leu370* | 1 | 1 |
| c.574-6_574-3del | c.574-6_574-3del | 1 | 1 |
| c.770_771del | c.770_771del | 1 | 1 |
| c.1041del | c.1041del | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Not specified | — | 162 | 1 |
| Not specified | — | 27 | 1 |
Supporting publications
2 records- 2024Impact of Vitamin D deficiency on immunological and metabolic responses in women with recurrent pregnancy loss: focus on VDBP/HLA-G1/CTLA-4/ENTPD1/adenosine-fetal-maternal conflict crosstalk.BMC pregnancy and childbirthPubMed ↗
- 2022Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.Annals of neurologyPubMed ↗