Metazoan complexes |
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Details of PTH1R gene in Homo sapiens
IDs | |||||||||
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Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| PTH1R | PTHR,PTHR1 | Q03431 | PTH1R_HUMAN | 5745 | ENSG00000160801 | Parathyroid hormone/parathyroid hormone-related peptide receptor | SPROT |
Disease | |||||||||
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Disease | OMIM id | ||||||||
Eiken skeletal dysplasia (EISD) [MIM:600002]: A rare skeletal dysplasia characterized by severely retarded ossification, principally of the epiphyses, pelvis, hands and feet, as well as by abnormal modeling of the bones in hands and feet, abnormal persistence of cartilage in the pelvis and mild growth retardation. Note=The disease is caused by mutations affecting the gene represented in this entry. | 600002 | Primary failure of tooth eruption (PFE) [MIM:125350]: Rare condition that has high penetrance and variable expressivity and in which tooth retention occurs without evidence of any obvious mechanical interference. Instead, malfunction of the eruptive mechanism itself appears to cause nonankylosed permanent teeth to fail to erupt, although the eruption pathway has been cleared by bone resorption. Note=The disease is caused by mutations affecting the gene represented in this entry. | 125350 | Jansen metaphyseal chondrodysplasia (JMC) [MIM:156400]: Rare autosomal dominant disorder characterized by a short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations of the two parathyroid hormones. Note=The disease is caused by mutations affecting the gene represented in this entry. | 156400 | Chondrodysplasia Blomstrand type (BOCD) [MIM:215045]: Severe skeletal dysplasia. Note=The disease is caused by mutations affecting the gene represented in this entry. | 215045 | Enchondromatosis multiple (ENCHOM) [MIM:166000]: A condition characterized by multiple formation of enchondromas, benign neoplasms derived from mesodermal cells that form cartilage. Enchondromas remain within the substance of a cartilage or bone. Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma. Note=The disease may be caused by mutations affecting the gene represented in this entry. | 166000 |
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Pth1r | --- | C18B12.2 | --- |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
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