serpinh1 Phenotypes

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Phenotypes

Gene Literature (6)

Nucleotides (139)

Interactants (287)

XB-GENEPAGE-1005104

Gene Symbol: serpinh1 Gene Name: serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)

Expression Phenotypes Gene expression phenotype annotations where the gene of interest has been disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1, FDR <= 0.05 and an absolute LogFC >= 2.
Computed annotations: serpinh1 assayed (20 sources)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (50 sources): Abnormal thorax morphology, Abnormality of the nervous system, Basilar impression, Biconcave vertebral bodies, Blue sclerae, Bowing of limbs due to multiple fractures, Bowing of the long bones, Broad ribs, Chronic lung disease, Decreased calvarial ossification, Dentinogenesis imperfecta, Disproportionate short-limb short stature, Frontal bossing, Generalized hypotonia, Generalized joint hypermobility, Genu valgum, Hearing impairment, High forehead, High pitched voice, Kyphosis, Malar flattening, Micrognathia, Micromelia, Midface retrusion, Multiple prenatal fractures, Narrow chest, Narrow forehead, Neonatal short-limb short stature, Nephrolithiasis, Osteopenia, Platybasia, Platyspondyly, Prominent forehead, Protrusio acetabuli, Pulmonary arterial hypertension, Pyloric stenosis, Recurrent fractures, Relative macrocephaly, Scoliosis, Severe generalized osteoporosis, Shallow orbits, Short stature, Slender long bone, Thin ribs, Tibial bowing, Triangular face, Vertebral compression fracture, Wide anterior fontanel, Wormian bones, obsolete Joint laxity [+]
Mouse (23 sources): abnormal bronchial cartilage morphology, abnormal chondrocyte morphology, abnormal elbow joint morphology, abnormal embryonic neuroepithelium morphology, abnormal embryonic tissue morphology, abnormal humerus morphology, abnormal limb morphology, abnormal phalanx morphology, abnormal rib development, abnormal skeleton development, abnormal somite development, abnormal spine curvature, abnormal vertebral arch morphology, chondrodystrophy, decreased birth weight, delayed bone ossification, delayed endochondral bone ossification, delayed neural tube closure, embryonic lethality during organogenesis, complete penetrance, perinatal lethality, complete penetrance, persistence of notochord tissue, short radius, skeleton phenotype [+]
View all ortholog results at Monarch