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 |
| Saethre-Chotzen syndrome | 101400 | TWIST1 | twist basic helix-loop-helix transcription factor 1 |
| Saethre-Chotzen syndrome with eyelid anomalies | 101400 | TWIST1 | twist basic helix-loop-helix transcription factor 1 |
| Scapuloperoneal syndrome | |||
| Scapuloperoneal syndrome, myopathic type | 181430 | MYH7 | myosin, heavy chain 7, cardiac muscle, beta |
| Scapuloperoneal syndrome, neurogenic, Kaeser type | 181400 | DES | desmin |
| Schwannomatosis | 162091 | NF2 | neurofibromin 2 (merlin) |
| Scoliosis, idiopathic 3 | 608765 | CHD7 | chromodomain helicase DNA binding protein 7 |
| SED congenita | 183900 | COL2A1 | collagen, type II, alpha 1 |
| SED, Namaqualand type | COL2A1 | collagen, type II, alpha 1 | |
| Senior-Loken syndrome 6 | 610189 | CEP290 | centrosomal protein 290kDa |
| Severe combined immunodeficiency | |||
| Severe combined immunodeficiency due to ADA deficiency | 102700 | ADA | adenosine deaminase |
| Severe combined immunodeficiency, B cell-negative | 601457 | RAG1 | recombination activating gene 1 |
| Severe combined immunodeficiency, B cell-negative | 601457 | RAG2 | recombination activating gene 2 |
| Severe combined immunodeficiency, X-linked | 300400 | IL2RG | interleukin 2 receptor, gamma |
| Short QT syndrome | |||
| Short QT syndrome-1 | 609620 | KCNH2 | potassium voltage-gated channel, subfamily H (eag-related), member 2 |
| Short QT syndrome-2 | 609621 | KCNQ1 | potassium voltage-gated channel, KQT-like subfamily, member 1 |
| Short QT syndrome-3 | 609622 | KCNJ2 | potassium inwardly-rectifying channel, subfamily J, member 2 |
| Sialuria | 269921 | GNE | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
| Sick sinus syndrome | |||
| Sick sinus syndrome 1 | 608567 | SCN5A | sodium channel, voltage-gated, type V, alpha subunit |
| Sick sinus syndrome 2 | 163800 | HCN4 | hyperpolarization activated cyclic nucleotide-gated potassium channel 4 |
| Sick sinus syndrome 3 | 614090 | MYH6 | myosin, heavy chain 6, cardiac muscle, alpha |
| Sickle cell anemia | 603903 | HBB | hemoglobin, beta |
| Simpson-Golabi-Behmel syndrome, type 1 | 312870 | GPC3 | glypican 3 |
| Skin fragility-woolly hair syndrome | 607655 | DSP | desmoplakin |
| Skin/hair/eye pigmentation | |||
| Skin/hair/eye pigmentation 1, blond/brown hair | 227220 | OCA2 | oculocutaneous albinism II |
| Skin/hair/eye pigmentation 1, blue/nonblue eyes | 227220 | OCA2 | oculocutaneous albinism II |
| Skin/hair/eye pigmentation 2, blond hair/fair skin | 266300 | MC1R | melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) |
| Skin/hair/eye pigmentation 2, red hair/fair skin | 266300 | MC1R | melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) |
| Skin/hair/eye pigmentation 3, blue/green eyes | 601800 | TYR | tyrosinase |
| Skin/hair/eye pigmentation 3, light/dark/freckling skin | 601800 | TYR | tyrosinase |
| Small fiber neuropathy | 133020 | SCN9A | sodium channel, voltage-gated, type IX, alpha subunit |
| SMED Strudwick type | 184250 | COL2A1 | collagen, type II, alpha 1 |
| Smith-Lemli-Opitz syndrome | 270400 | DHCR7 | 7-dehydrocholesterol reductase |
| Smith-Magenis syndrome | 182290 | RAI1 | retinoic acid induced 1 |
| Sotos syndrome 1 | 117550 | NSD1 | nuclear receptor binding SET domain protein 1 |
| Spastic paraplegia | |||
| Spastic paraplegia 3A, autosomal dominant | 182600 | ATL1 | atlastin GTPase 1 |
| Spastic paraplegia 7, autosomal recessive | 607259 | SPG7 | pastic paraplegia 7 (pure and complicated autosomal recessive) |
| Spastic paraplegia 8, autosomal dominant | 603563 | KIAA0196 | KIAA0196 |
| Spermatocytic seminoma, somatic | 273300 | FGFR3 | fibroblast growth factor receptor 3 |
| Spinal muscular atrophy, distal, X-linked 3 | 300489 | ATP7A | ATPase, Cu++ transporting, alpha polypeptide |
| Spinocerebellar ataxia | |||
| Spinocerebellar ataxia 1 | 164400 | ATXN1 | ataxin 1 |
| Spinocerebellar ataxia 2 | 183090 | ATXN2 | ataxin 2 |
| Spinocerebellar ataxia 7 | 164500 | ATXN7 | ataxin 7 |
| Spondyloperipheral dysplasia | 271700 | COL2A1 | collagen, type II, alpha 1 |
| Stargardt disease | |||
| Stargardt disease 1 | 248200 | ABCA4 | ATP-binding cassette, sub-family A (ABC1), member 4 |
| Stargardt disease 4 | 603786 | PROM1 | prominin 1 |
| Stickler sydrome | |||
| Stickler sydrome, type I, nonsyndromic ocular | 609508 | COL2A1 | collagen, type II, alpha 1 |
| Stickler syndrome, type I | 108300 | COL2A1 | collagen, type II, alpha 1 |
| Stickler syndrome, type II | 604841 | COL11A1 | collagen, type XI, alpha 1 |
| Stickler syndrome, type III | 184840 | COL11A2 | collagen, type XI, alpha 2 |
| Stickler syndrome, type IV | 614134 | COL9A1 | collagen, type IX, alpha 1 |
| Stiff skin syndrome | 184900 | FBN1 | fibrillin 1 |
| Subcortical laminal heteropia | |||
| Subcortical laminal heteropia, X-linked | 300067 | DCX | doublecortin |
| Subcortical laminar heterotopia | 607432 | PAFAH1B1 | platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) |
| Sudden infant death syndrome, susceptibility to | 272120 | SCN5A | sodium channel, voltage-gated, type V, alpha subunit |
| Supranuclear palsy, progressive | 601104 | MAPT | microtubule-associated protein tau |
| Supranuclear palsy, progressive atypical | 260540 | MAPT | microtubule-associated protein tau |
| Supravalvar aortic stenosis | 185500 | ELN | elastin |
| Sweat chloride elevation without CF | CFTR | cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) | |
| Symphalangism, proximal | 185800 | GDF5 | growth differentiation factor 5 |
