Details of CRTAP gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| CRTAP | CASP | O75718 | CRTAP_HUMAN | 10491
| ENSG00000170275
| Cartilage-associated protein | white sclera |
Phenotypes
Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormal bone structure, Abnormal delivery, Abnormal diaphysis morphology, Abnormal joint morphology, Abnormality involving the diaphyses of the limbs, Abnormality of body height, Abnormality of bone mineral density, Abnormality of cranial sutures, Abnormality of head and neck, Abnormality of limb bone morphology, Abnormality of long bone morphology, Abnormality of pelvic girdle bone morphology, Abnormality of prenatal development or birth, Abnormality of skeletal morphology, Abnormality of skeletal physiology, Abnormality of the acetabulum, Abnormality of the calvaria, Abnormality of the curvature of the vertebral column, Abnormality of the ear, Abnormality of the eye, Abnormality of the face, Abnormality of the femoral neck, Abnormality of the femoral neck and head region, Abnormality of the femur, Abnormality of the fontanelles and cranial sutures, Abnormality of the head, Abnormality of the hip bone, Abnormality of the hip joint, Abnormality of the joints of the lower limbs, 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 teeth, Abnormality of the vertebrae, Abnormality of the vertebral column, All, Autosomal recessive inheritance, Blue sclerae, Bowing of the legs, Bowing of the long bones, Breech presentation, Coxa vara, Growth abnormality, Growth delay, Increased susceptibility to fractures, Mode of inheritance, Multiple prenatal fractures, Osteopenia, Phenotypic abnormality, Protrusio acetabuli, Recurrent fractures, Reduced bone mineral density, Scoliosis, Short stature, Vertebral compression fractures, Wormian bones.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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