EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   3.1.3.96 | Ichthyosis |
20722631 |
HDHD1, which is often deleted in X-linked ichthyosis, encodes a pseudouridine-5'-phosphatase. |
causal interaction
diagnostic usage
unassigned |
3
1
0 |
| 3.1.3.96 | Ichthyosis |
28122887 |
Expanding the genetic spectrum of ANOS1 mutations in patients with congenital hypogonadotropic hypogonadism. |
causal interaction
unassigned |
1
0 |
| 3.1.3.96 | Intellectual Disability |
31963867 |
Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31. |
causal interaction
diagnostic usage
ongoing research
unassigned |
3
2
2
0 |
