Comparative

OMIA group 2176

Meckel-like hepatorenal fibrocystic dysplasia syndrome

The chain reaches the human disease COACH syndrome 1, which Mondo defines as: “Any COACH syndrome in which the cause of the disease is a variation in the TMEM67 gene.” It reaches 3 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.

  1. Animal disease

    Reached

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

  2. Human disease

    Reached

    4 Mondo diseases.

  3. Human gene

    Reached

    1 human gene.

  4. Target evidence

    Reached

    3 Open Targets associations, with a best score of 0.82.

  5. 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.

Meckel syndrome, type 3

57.8 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.82 28.8 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
nephronophthisis 11

57.8 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.82 28.8 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
Joubert syndrome 6

57.7 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.82 28.7 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
COACH syndrome 1

29.0 out of 100

Part Computed from Points
Target evidence No Open Targets association with this disease 0.0 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
sheep Ovis aries OMIA:002176-9940 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
sheep TMEM67 transmembrane protein 67 NCBI Gene 101110519 TMEM67 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.

Mondo disease Name Found by
MONDO:0800103 COACH syndrome 1 Any COACH syndrome in which the cause of the disease is a variation in the TMEM67 gene. OMIA's OMIM numbers
MONDO:0012539 Joubert syndrome 6 Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM67 gene. OMIA's OMIM numbers
MONDO:0011821 Meckel syndrome, type 3 Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene. OMIA's OMIM numbers
MONDO:0013302 nephronophthisis 11 A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1. 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
TMEM67 nephronophthisis 11 0.82 319 Genetic association 0.92 Genetic literature 0.87 Literature 0.29
TMEM67 Meckel syndrome, type 3 0.82 374 Genetic association 0.96 Genetic literature 0.88 Animal model 0.30 Literature 0.16
TMEM67 Joubert syndrome 6 0.82 381 Genetic association 0.95 Genetic literature 0.89 Animal model 0.30 Literature 0.08

Drugs

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