Disease ID | Disease name | Source of annotation with PNPLA1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS242300 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 10 | PNPLA1, ST14, ABCA12, NIPAL4, ALOXE3, LIPN, ALOX12B, CYP4F22, CERS3, TGM1 |
Download the gene annotation in CSV format
GO term | GO ID | GO IC |
---|---|---|
hydrolase activity | GO:0016787 | 1.9 |
catalytic activity | GO:0003824 | 1.05 |