EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   2.4.2.61 | Cobblestone Lissencephaly |
23217329 |
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. |
causal interaction
diagnostic usage
unassigned |
3
3
0 |
| 2.4.2.61 | Gonadal Dysgenesis |
23217329 |
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. |
causal interaction
diagnostic usage
unassigned |
3
3
0 |
| 2.4.2.61 | Infections |
34140527 |
Vpr counteracts the restriction of LAPTM5 to promote HIV-1 infection in macrophages. |
causal interaction
ongoing research
therapeutic application
unassigned |
1
1
4
0 |
| 2.4.2.61 | Muscular Dystrophies |
24120487 |
160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome. |
unassigned |
0 |
| 2.4.2.61 | Muscular Dystrophies |
27130732 |
The functional O-mannose glycan on ?-dystroglycan contains a phospho-ribitol primed for matriglycan addition. |
causal interaction
unassigned |
3
0 |
| 2.4.2.61 | Muscular Dystrophies |
27733679 |
The Muscular Dystrophy Gene TMEM5 Encodes a Ribitol ?1,4-Xylosyltransferase Required for the Functional Glycosylation of Dystroglycan. |
therapeutic application
unassigned |
1
0 |
| 2.4.2.61 | Neural Tube Defects |
23217329 |
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. |
causal interaction
diagnostic usage
unassigned |
3
3
0 |
| 2.4.2.61 | Osteogenesis Imperfecta |
28548288 |
Hypermineralization and High Osteocyte Lacunar Density in Osteogenesis Imperfecta Type V Bone Indicate Exuberant Primary Bone Formation. |
unassigned |
0 |
| 2.4.2.61 | Osteogenesis Imperfecta |
29252448 |
Interferon-Induced Transmembrane Protein 5 Mutation Causing Type-V Osteogenesis Imperfecta: A Case Report. |
unassigned |
0 |
| 2.4.2.61 | Osteogenesis Imperfecta |
33273604 |
Effect of immunosuppressants on a mouse model of osteogenesis imperfecta type V harboring a heterozygous Ifitm5 c.-14C?>?T mutation. |
unassigned |
0 |
