WormBase Tree Display for Disease_model_annotation: WBDOannot00000124
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| WBDOannot00000124 | Disease_term | DOID:12712 | |
|---|---|---|---|
| Disease_of_species | Homo sapiens | ||
| Modeled_by | Genotype | WBGenotype00000007 | |
| Asserted_gene | WBGene00011261 | ||
| WBGene00010898 | |||
| Association_type | is_model_of | ||
| Evidence_code | GO_code | IMP | |
| ECO_term | ECO:0007013 | ||
| Genetic_sex | male | ||
| Paper_evidence | WBPaper00025076 | ||
| Disease_model_description | nphp-1(ok500) deletion removes 50% of the coding region, including the evolutionarily conserved nephrocystinhomology domain (NHD), resulting in a truncated protein; in two human patients, a point mutation in this region affecting a splice site combined with a large deletion in the second copy of NPHP1 caused nephronophthisis type 1. | ||
| Curator_confirmed | WBPerson324 | ||
| Date_last_updated | 01 May 2018 00:00:00 |
