OMIA group 2097

Ataxia, spinocerebellar, ITPR1-related

The chain reaches the human disease aniridia-cerebellar ataxia-intellectual disability syndrome, which Mondo defines as: “Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.” It reaches 2 more human diseases, listed below.

The chain

From the animal disease to the drugs. The page shows what each step found and where the chain stopped. It does not say whether the animal is a model of a human disease.

Animal disease

Reached

OMIA records it in 1 species entry marked as a defect.
Human disease

Reached

3 Mondo diseases.
Human gene

Reached

1 human gene.
Target evidence

Reached

3 Open Targets associations, with a best score of 0.83.
Drugs

Stopped here

No ChEMBL drug acts on a human gene of the group's target evidence.

The chain stopped at Drugs: No ChEMBL drug acts on a human gene of the group's target evidence.

Natural-model score

How complete and how well supported the chain to each human disease is, out of 100, by stated rules. It does not say that the animal is a validated model of the human disease. How the score works.

aniridia-cerebellar ataxia-intellectual disability syndrome

57.9 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.83	28.9 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	1 naturally occurring species entry marked as a defect	4.0 of 10

spinocerebellar ataxia type 29

57.4 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.81	28.4 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	1 naturally occurring species entry marked as a defect	4.0 of 10

spinocerebellar ataxia type 15/16

55.9 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.77	26.9 of 35
Drugs	No drug has been tested for this disease, and none acts on its genes	0.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	1 naturally occurring species entry marked as a defect	4.0 of 10

Species

The chain follows only the species entries that OMIA marks as a defect.

Species	Scientific name	OMIA entry	A defect
dog	Canis lupus familiaris	OMIA:002097-9615	Yes

Genes

Each gene OMIA records for a species entry, and the human gene it reaches through Ensembl's orthologs.

Species	Animal gene	Human gene	Ortholog
dog	ITPR1 inositol 1,4,5-trisphosphate receptor, type 1 NCBI Gene 476548	ITPR1 Ensembl	one to one

Human diseases

Two routes lead from an OMIA group to a Mondo human disease: OMIA's own Mondo link, and the group's OMIM numbers through Mondo's cross-references.

OMIA's own Mondo link: OMIA links the group to no Mondo disease.
OMIA's OMIM numbers: found a disease.

Mondo disease	Name	Found by
MONDO:0008795	aniridia-cerebellar ataxia-intellectual disability syndrome Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.	OMIA's OMIM numbers
MONDO:0011694	spinocerebellar ataxia type 15/16 Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia, tremor and cognitive impairment.	OMIA's OMIM numbers
MONDO:0007298	spinocerebellar ataxia type 29 Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.	OMIA's OMIM numbers

Target evidence

Each Open Targets association between one of the group's human genes and one of its human diseases, with its overall score and the score for each kind of evidence.

Human gene	Human disease	Score	Evidence	Kinds of evidence
ITPR1	aniridia-cerebellar ataxia-intellectual disability syndrome	0.83	156	Genetic association 0.89 Genetic literature 0.87 Animal model 0.32 Literature 0.26
ITPR1	spinocerebellar ataxia type 29	0.81	131	Genetic association 0.87 Genetic literature 0.83 Animal model 0.43 Literature 0.17
ITPR1	spinocerebellar ataxia type 15/16	0.77	140	Genetic literature 0.84 Genetic association 0.83 Animal model 0.42 Literature 0.25

Drugs

No ChEMBL drug acts on a human gene of the group's target evidence.