| Entry |
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| Name |
Mutation-inactivated GNAS to PTH-PTH1R-PKA signaling pathway
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| Definition |
PTH -> PTH1R -> GNAS* // ADCY |
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| Expanded |
5741 -> 5745 -> 2778v2 // (107,108,109,196883,111,112,113,114,115) |
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| Class |
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| Type |
Variant
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| Disease |
| H00244 | Pseudohypoparathyroidism |
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| Gene |
| 5741 | PTH; parathyroid hormone |
| 5745 | PTH1R; parathyroid hormone 1 receptor |
| 2778 | GNAS; GNAS complex locus |
| 107 | ADCY1; adenylate cyclase 1 |
| 108 | ADCY2; adenylate cyclase 2 |
| 109 | ADCY3; adenylate cyclase 3 |
| 196883 | ADCY4; adenylate cyclase 4 |
| 111 | ADCY5; adenylate cyclase 5 |
| 112 | ADCY6; adenylate cyclase 6 |
| 113 | ADCY7; adenylate cyclase 7 |
| 114 | ADCY8; adenylate cyclase 8 |
| 115 | ADCY9; adenylate cyclase 9 |
|
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| Variant |
2778v2 (GNAS*) GNAS inactivating mutation
|
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| Reference |
|
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| Authors |
Mantovani G, Spada A, Elli FM |
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| Title |
Pseudohypoparathyroidism and Gsalpha-cAMP-linked disorders: current view and open issues. |
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| Journal |
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| Reference |
|
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| Authors |
Levine MA, Germain-Lee E, Jan de Beur S |
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| Title |
Genetic basis for resistance to parathyroid hormone. |
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| Journal |
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| Reference |
|
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| Authors |
Mannstadt M, Bilezikian JP, Thakker RV, Hannan FM, Clarke BL, Rejnmark L, Mitchell DM, Vokes TJ, Winer KK, Shoback DM |
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| Title |
Hypoparathyroidism. |
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| Journal |
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| LinkDB |
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