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Details of PPIB gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| PPIB | CYPB | P23284 | PPIB_HUMAN | 5479 | Q9BVK5 | 1CYN 3ICH 3ICI 1CYN 3ICH 3ICI | low bone mass | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Osteogenesis imperfecta 9 (OI9) [MIM:259440]: A form of osteogenesis imperfecta | bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine f | ||||||||
Phenotypes
Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormal diaphysis morphology, Abnormal joint morphology, Abnormality involving the diaphyses of the limbs, Abnormality of cranial sutures, Abnormality of dental structure, Abnormality of dentin, Abnormality of head and neck, Abnormality of limb bone morphology, Abnormality of long bone morphology, Abnormality of metabolism/homeostasis, Abnormality of skeletal morphology, Abnormality of skeletal physiology, Abnormality of the calvaria, Abnormality of the curvature of the vertebral column, Abnormality of the eye, Abnormality of the face, Abnormality of the fontanelles and cranial sutures, Abnormality of the head, Abnormality of the joints of the lower limbs, Abnormality of the knees, Abnormality of the lower limb, Abnormality of the mouth, Abnormality of the oral cavity, Abnormality of the sclera, Abnormality of the skeletal system, Abnormality of the skull, Abnormality of the sternum, Abnormality of the teeth, Abnormality of the thorax, Abnormality of the vertebral column, All, Autosomal recessive inheritance, Blue sclerae, Bowing of limbs due to multiple fractures, Bowing of the legs, Bowing of the long bones, Dentinogenesis imperfecta, Genu varum, Increased susceptibility to fractures, Kyphosis, Mode of inheritance, Multiple prenatal fractures, Pectus carinatum, Pectus excavatum, Phenotypic abnormality, Recurrent fractures, Scoliosis, Wormian bones.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||