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Índice de enfermedades genéticas ofrecidas por AC Gen Reading Life


Busca la enfermedad o gen a estudiar
(Recomendable en inglés)
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
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