IMP
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Mus musculus
0 genes annotated in mouse
joubert syndrome
DOID:0050777
An autosomal recessive disease that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones resulting from dysfunction of ciliary proteins (ciliopathy).
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In addition to gene-name show these genes:
Disease predictions are made from cross-annotation of human disease genes to the identified functional analogs in mouse and predicted with the mouse functional network.
| Name | Description | Probability | Func Analog Organism | |
|---|---|---|---|---|
| Mks1 | Meckel syndrome, type 1 | 0.688 | ||
| Tctn1 | tectonic family member 1 | 0.621 | ||
| Nphp4 | nephronophthisis 4 (juvenile) homolog (human) | 0.459 | ||
| Iqcb1 | IQ calmodulin-binding motif containing 1 | 0.196 | ||
| Hsp90aa1 | heat shock protein 90, alpha (cytosolic), class A member 1 | 0.049 | ||
| Invs | inversin | 0.043 | ||
| Hsp90ab1 | heat shock protein 90 alpha (cytosolic), class B member 1 | 0.040 | ||
| Hspa8 | heat shock protein 8 | 0.024 | ||
| B9d1 | B9 protein domain 1 | 0.019 | ||
| Cc2d2a | coiled-coil and C2 domain containing 2A | 0.017 | ||
| Hspa9 | heat shock protein 9 | 0.015 | ||
| Tuba1b | tubulin, alpha 1B | 0.012 |