Índice de enfermedades genéticas ofrecidas por AC Gen Reading Life
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Busca la enfermedad o gen a estudiar (Recomendable en inglés) |
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A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z
| Enfermedad/Phenotype | Phenotype MIM number | Simbolo del Gen | Nombre del Gen |
| Pancreatic cancer | |||
| Pancreatic cancer | SMAD4 | SMAD family member 4 | |
| Pancreatic cancer | 260350 | TP53 | tumor protein p53 |
| Pancreatitis, idiopathic | 167800 | CFTR | cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) |
| Parkinson | |||
| Parkinson disease 1 | 168601 | SNCA | synuclein, alpha (non A4 component of amyloid precursor) |
| Parkinson disease 15, autosomal recessive | 260300 | FBXO7 | F-box protein 7 |
| Parkinson disease 4 | 605543 | SNCA | synuclein, alpha (non A4 component of amyloid precursor) |
| Parkinson disease 6, early onset | 605909 | PINK1 | PTEN induced putative kinase 1 |
| Parkinson disease 8 | 607060 | LRRK2 | leucine-rich repeat kinase 2 |
| Parkinson disease, late-onset, susceptibility to | 168600 | GBA | glucosidase, beta, acid |
| Parkinson disease, susceptibility to | 168600 | MAPT | microtubule-associated protein tau |
| Paroxysmal extreme pain disorder | 167400 | SCN9A | sodium channel, voltage-gated, type IX, alpha subunit |
| Pendred syndrome | 274600 | SLC26A4 | solute carrier family 26, member 4 |
| Peroxisome | |||
| Peroxisome biogenesis disorder 10A (Zellweger) | 614882 | PEX3 | peroxisomal biogenesis factor 3 |
| Peroxisome biogenesis disorder 11A (Zellweger) | 614883 | PEX13 | peroxisomal biogenesis factor 13 |
| Peroxisome biogenesis disorder 11B | 614885 | PEX13 | peroxisomal biogenesis factor 13 |
| Peroxisome biogenesis disorder 12A (Zellweger) | 614886 | PEX19 | peroxisomal biogenesis factor 19 |
| Peroxisome biogenesis disorder 13A (Zellweger) | 614887 | PEX14 | peroxisomal biogenesis factor 14 |
| Peroxisome biogenesis disorder 1A (Zellweger) | 214100 | PEX1 | peroxisomal biogenesis factor 1 |
| Peroxisome biogenesis disorder 1B (NALD/IRD) | 601539 | PEX1 | peroxisomal biogenesis factor 1 |
| Peroxisome biogenesis disorder 2A (Zellweger) | 214110 | PEX5 | peroxisomal biogenesis factor 5 |
| Peroxisome biogenesis disorder 2B | 202370 | PEX5 | peroxisomal biogenesis factor 5 |
| Peroxisome biogenesis disorder 6A (Zellweger) | 614870 | PEX10 | peroxisomal biogenesis factor 10 |
| Peroxisome biogenesis disorder 6B | 614871 | PEX10 | peroxisomal biogenesis factor 10 |
| Peroxisome biogenesis disorder 7A (Zellweger) | 614872 | PEX26 | peroxisomal biogenesis factor 26 |
| Peroxisome biogenesis disorder 7B | 614873 | PEX26 | peroxisomal biogenesis factor 26 |
| Peters anomaly | 604229 | PAX6 | paired box 6 |
| Pfeiffer syndrome | 101600 | FGFR1 | fibroblast growth factor receptor 1 |
| Phenylketonuria | 261600 | PAH | phenylalanine hydroxylase |
| Pheochromocytoma | |||
| Pheochromocytoma | 171300 | RET | ret proto-oncogene |
| Pheochromocytoma | 171300 | VHL | von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase |
| Pick disease | |||
| Pick disease | 172700 | PSEN1 | presenilin 1 |
| Pick disease | 172700 | MAPT | microtubule-associated protein tau |
| Pigmented paravenous chorioretinal atrophy | 172870 | CRB1 | crumbs homolog 1 (Drosophila) |
| Platyspondylic skeletal dysplasia, Torrance type | 151210 | COL2A1 | collagen, type II, alpha 1 |
| Polycystic kidney disease | |||
| Polycystic kidney and hepatic disease | 263200 | PKHD1 | polycystic kidney and hepatic disease 1 (autosomal recessive) |
| Polycystic kidney disease 2 | 613095 | PKD2 | polycystic kidney disease 2 (autosomal dominant) |
| Polycystic kidney disease, adult type I | 173900 | PKD1 | polycystic kidney disease 1 (autosomal dominant) |
| Polyglucosan body disease, adult form | 263570 | GBE1 | glucan (1,4-alpha-), branching enzyme 1 |
| Polyposis syndrome | |||
| Polyposis syndrome, hereditary mixed, 2 | 610069 | BMPR1A | bone morphogenetic protein receptor, type IA |
| Polyposis, juvenile intestinal | 174900 | BMPR1A | bone morphogenetic protein receptor, type IA |
| Polyposis, juvenile intestinal | 174900 | SMAD4 | SMAD family member 4 |
| Pompe Disease-Glycogen storage disease II | 232300 | GAA | glucosidase, alpha; acid |
| Porencephaly 1 | 175780 | COL4A1 | collagen, type IV, alpha 1 |
| Porphyria cutanea tarda, susceptibility to | 176100 | HFE | hemochromatosis |
| Porphyria variegata, susceptibility to | 176200 | HFE | hemochromatosis |
| Porphyria, acute intermittent | 176000 | HMBS | hydroxymethylbilane synthase |
| Porphyria, acute intermittent, nonerythroid variant | 176000 | HMBS | hydroxymethylbilane synthase |
| Premature ovarian failure 3 | 608996 | FOXL2 | forkhead box L2 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609283 | SLC25A4 | solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 |
| Progressive external ophthalmoplegia, autosomal dominant | 157640 | POLG | polymerase (DNA directed), gamma |
| Progressive external ophthalmoplegia, autosomal recessive | 258450 | POLG | polymerase (DNA directed), gamma |
| Prostate cancer, familial, susceptibility to | 176807 | CHEK2 | checkpoint kinase 2 |
| Pulmonary disease, chronic obstructive, susceptibility to | 606963 | SERPINA1 | serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 |
