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Çeşitli Genetik Hastalıkları
Application Region Art.Nr.
Cystic Fibrosis CFTR 7q31.2 P091-improved
DPP6, CRKL DPP6, CRKL P349-basic research
Dandy-Walker Malformation (DWM) ZIC1, ZIC4 3p2, VLDLR 9p24 P267
DiGeorge syndrome 22q11 P250
Diamond-Blackfan anemia (DBA) RPS19 19q13.2, 8p23 P212
Distal spinal muscular atrophy 1 (DSMA1), SMARD1, dHMN6 IGHMBP2 11q13 P058
Drug-transport pump ABCB4 7q21,1 P109
Dyskeratosis congenita (DC) DKC1 Xq28 P257
Dystonia P059
Ectodermal dysplasia, x-linked (XLHED) EDA Xq12-q13.1 P183
Ehlers Danlos syndrome type VI 1p36.22 P359
Ehlers-Danlos Syndrome COL5A1 9q34.3 P331
Ehlers-Danlos Syndrome COL5A1 9q34.3 P332
Epilepsy (EFMR) PCDH1 P330
FCGR genes 1q23.3 FCGR genes 1q23.3 P110-basic research
FCGR genes 1q23.3 FCGR genes 1q23.3 P111-basic research
Fabry Disease GLA Xq22 P159
Faciogenital dysplasia (FGDY), Aarskog-Scott syndrome FGD1 Xp11.21 P232-improved
Factor IX deficiency, Christmas disease F9 Xq27.1 P207
Familial juvenile nephronophthisis NPHP1 2q13 P387
Familial lymphohistiocytosis (HLH) UNC13D 17q25.1, PRF1 10q22.1, STX11 6q24.2 P028- new
Fanconi Anemia (FA) FANCA 16q24.3 P031
Fanconi Anemia (FA) FANCA 16q24.3 P032
Fanconi anemia (FA) FANCD2. 3p25.3, PALB2 16p12 P057
Fanconi anemia complementation group B FANCB Xp22 P113
Fragile X FMR1, AFF2 ME029
Fructose intolerance ALDOB 9q21 P255
Fumarase deficiency (FH) FH P198
Gitelman syndrome SLC12A3 16q13 P136
Glut1 deficiency syndrome SLC2A1 1p34.2 P138
Glycine encephalopathy GLDC 9p22 P209
Gonadal Development Disorder DMRT1, CYP17A1, SRD5A2, HSD17B3 P334
Growth Hormone Deficiency (GHD) GH1, LHX4, POU1F1, HESX1, PROP1, GHRHR, LHX3 P216
Growth Hormone Insensitivity (GHI) GHR 5p12, JAK2 9q24.1, IGF1 12q23, STAT5B 17q21 P262
HIES 9p24.3 P385
HIES 17q21.2, 9p24.3 P386
Haemolytic Anaemia, hereditary non-spherocytic PKLR 1q22 P203-improved
Haemophilia A, x-linked F8 gene, Xq28 P178
Hearing loss GJB 1p35.1 (connexin 31), WFS1 4p16.1 (Wolframin) P163
Hemolytic uremic syndrome, typical (aHUS) CFH 4q25 P296
Hemorrhagic telangiectasia, hereditary (HHT),
Primary pulmonary hypertension (PPH1)
ENG 9q34.1, ALK1 12q13.13, BMPR2 2q33.3 P093
Hereditary Pancreatitis (HP) PRSS1 7q34, SPINK1 5q32 P242
Hereditary angioedema (HAE) SERPING1 11q12.1 P243
Hereditary hemochromatosis (HH) HFE, SLC40A1, TFR2, HFE2, HAMP P347
Hereditary neuralgic amyotrophy (HNA) SEPT9 17q25.3 P307
Hirschsprung disease PHOX2B, GFRA3, GFRA2, GFRA1, EDNRB, NRTN, PSPN, SOX10 P318
Hirschsprung disease, or Aganglionic Megacolon RET 10q11.2, ZFHX1B 2q22.3, EDN3 20q13.3 and GDNF 5q13.2 P169
Holoprosencephaly (HPE) PTCH, SHH, ZIC2, SIX3, TGIF TMEM1, FBXW11 P187
Human Height IHH, HHIP, NPPC, HMGA2, ADAMTSL3 P384
Hypercholesterolemia, familial LDLR 19p13.2 P062
Hyperinsulinemic hypoglycemia, familial (HHF1) ABCC8 11p15.1 P117
Hypertrophic cardiomyopathy familial, Dilated cardiomyopathy TNNT2 1q32 P196
Hypertrophic cardiomyopathy, familial MYBPC3 11p11.2 P100
Hypertrophic cardiomyopathy MYH7 14q11.2 P418-new
Hypocalciuric Hypercalcemia, familial CASR 3q13 P177
Hypophosphatemia, x-linked PHEX Xp22.2, FGF23 12p13 P223
Idiopathic growth retardation SHOX-Xp22 P018
Insulin-like growth factor 1 receptor (IGF1R) IGFR1, IGFBP3. P217
LPL deficiency LPL 8p21.3 P218
Leber congenital amaurosis (LCA) AIPL1 17p13, CRB1 1q31, CRX 19q13, RPE65 1p31 P221
Leber congenital amaurosis (LCA) GUCY2D 17p13.1, RDH12 14q24, RPGRIP1 14q11, CEP290 12q21 P222
Limb girdle muscular dystrophy 2A (LGMD2A) CAPN3 15q15.1 P176
Limb malformations, heart SALL1 16q12, SALL4 20q13, TBX5 12q24 P180
Limb malformations GLI3 7p13, HOXD13 2q31, ROR2 9q22 P179
Macular Dystrophy, Vitelliform BEST1 (=VDM2), PRPH2 (=RDS) P367
Macular dystrophy OPA1 3q28, VMD2 11q13, RDS 6p21.2 P229
Malignant Hyperthermia (MH) RYR1 P281
Malignant Hyperthermia (MH) RYR1 P282
Marfan syndrome FBN1 15q21.1, TGFBR2 3p22 P065
Marfan syndrome FBN1 15q21.1 P066
Marshall, type II Stickler syndromes COL11A1 P381
Marshall, type II Stickler syndromes COL11A1 P382
Maturity-Onset Diabetes of the Young (MODY) MODY 1, 2, 3; 5 P241
Maturity-Onset Diabetes of the Young (MODY) MODY 4; 6-10 P357
Mediterranean fever, familial (MEFV) MEFV 16p13.3 P094-improved
Microvillus Inclusion Disease (MVID) MYO5B 18q21.1 P394
Migraine 1q23 P348
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (mHMGS) HMGSC2 1p13 P068
Mitochondrial DNA (mtDNA) Mitochondria P125
Mitochondrial maintenance POLG, POLG2, C10orf2 (PEO1), SLC25A4 (ANT1) P010
Mucopolysaccharidosis type II, or Hunter syndrome IDS Xq28 P164
Multiple endocrine neoplasia (MEN) AIP 11q13, MEN1 11q13 P244
Multiple endocrine neoplasia MEN1 11q13 P017
Myotonia congenita, Thomsen’s disease, Becker’s disease,
Andersen-Tawil syndrome
CLCN1, KCNJ2 P350
Myotubular myopathy, x-linked (XLMTM) MTM1 Xq28, MTMR1 Xq28 P309
Nail patella syndrome (NPS) LMX1B 9q33 P289
Neonatal convulsions type 2, familial (BFNC2), Epilepsy benign neonatal type 2 (EBN2) KCNQ3 8q24.22 P197
Neurodegeneration with brain iron accumulation (NBIA) PANK2 20q13, PLA2G6 22q13 P120
Neurodegenerative diseases NOS1 12q24 P299-basic research
Niemann-Pick type C disease (NPC) NPC1, NPC2 P193
OPITZ syndrome MID1 Xp22 P233
Obesity, Diabetes mellitis type II, Familial partial lipodystrophy III,
Colon cancer
PPARG 3p25.1 P224
Obesity LEPR, POMC, LEP, SIM1, MC3R, MC4R P220
Ocular malformations, hereditary PAX6 11p13, SOX2 3q26, WT1, 11p13 P219
Ophthalmogenetic anomalies FOXL2 , TWIST1, FOXC1, FOXC2, ATR, PITX2, GPR143 P054
Ornithine cabamoyltransferase (OTC) OTC Xp21.1 P079
Osteogenesis imperfecta (OI) COL1A1 17q21.3 P271
Osteogenesis imperfecta (OI) COL1A2 7q21.3 P272
Osteopoprosis-pseudoglioma syndrome (OPPS) LRP5 11q13.4, DKK1 10q11.2 P285
PROS1 deficiency PROS1 3q11.2 P112
Parkinson disease, familial PARK2 6q25.2, SNCA 4q21, Pink1, Park7 1p36 P051
Parkinson disease, familial PARK2 6q25.2, UCHL1 4p14, GCH1 14q22.1, LRRK2 12q12 P052
Phenylketonuria PAH 12q24.1 P055
Piebaldism/KIT P354
Pitt-Hopkins syndrome, Congential variant of Rett syndrome TCF4, FOXG1 P075
Polycystic kidney disease, autosomal recessive (ARPKD) PKHD1 P341
Polycystic kidney disease, autosomal recessive (ARPKD) PKHD1 P342
Porphyrias FECH, UROS, UROD, CPOX P412
Porphyrias ALAD, HMBS, PPOX P411
Primary ciliary dyskinesia (PCD) DNAI1 9p21 P237
Primary ciliary dyskinesia (PCD) DNAH5 5p15 P238
Primary hyperoxaluria, type 1 (PH1) & type 2 (PH2) AGXT, GRHPR P305
Propionic acidemia PCCA 13q32 P278
Protein C deficiency (PROC) PROC 2q14.3 P265
Pseudoxanthoma elasticum ABCC6 16p13.1 P092
Retinitis Pigmentosa EYS 6q12 P328
Rett syndrome, atypical CDKL5 Xp22, NTNG1 1p13.3, ARX Xp22.1 P189
Rubinstein–Taybi syndrome (RSTS) CREBBP 16p13.3 P313
Rubinstein–Taybi syndrome (RSTS) EP300 P333
SCID and Omenn syndrome 10p13; DCLRE1C P368
SPRED1 SPRED1 15q14 P295
Sex determination SOX9 17q24.3, NR5A1 9p33, WNT4 1p36.12, NROB1 Xp21.2 P185
Simpson-Golabi-Behmel syndrome (SGBS) GPC3, GPC4, Xq26 P154
Skeletal disorders, Achondrogenesis, Chondrodysplasia,
Early onset familial Osteoarthritis, SED congenital,
Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome,
Spondyloepimetaphyseal
COL2A1 12q13.11-q13.2 P214
Small Patella Syndrome TBX4, TBX2, 17q23.1-q23.2 P390
Smith-Magenis syndrome 17p11.2 P369
Sotos syndrome NSD1, 5q35 P026
Stargardt, Macular dystrophy, Retinitis pigmentosa,
age-related macular degeneration
ABCA4 (ABCR) 1p22.1 P151
Stargardt, Macular dystrophy, Retinitis pigmentosa,
age-related macular degeneration
ABCA4 (ABCR) 1p22.1 P152
Steroid Sulfatase gene (STS) STS Xp22 P160
Thalassemia, beta-zero HBB 11p15.5 P102
Thalassemias, Alpha HBA 16p P140
The Ehlers-Danlos syndrome type III (EDS III) COL3A1 2q31, TNXB 6p21.3. P155
Thyroid dysgenesis TPO, PAX8, FOXE1, NKX2-1, TSHR P319
Treacher Collins-Franceschetti 1 TCOF1 P310
Trichorhinophalangeal syndrome type I (TRPS1), Langer-Giedion syndrome (LGS) TRPS1, EXT1, 8q24 P228
Tuberous Sclerosis TSC2 16p13.3 P046
Tuberous sclerosis TSC2 gene, 16p13.3 P337
Tumour research Chromosome 8 P014
Usher syndrome PCDH15 10q21.1 P292
Usher syndrome USH2A 1q41 P361
Usher syndrome USH2A 1q41 P362
VLCAD/Primary Carnitine ACADVL, SLC22A5 P076
Van der Woude syndrome (VWS) IRF6 1q32.2 P304
Von Hippel-Lindau Syndrome VHL, 3p25 P016
Von Willebrand Disease (vWD) vWF 12p13 P011
Von Willebrand Disease (vWD) vWF 12p13 P012
Waardenburg syndrome (WS) type II, WS1, WS3 PAX3 2q35, MITF 3p14, SOX10 22q13.1 P186
Walker-Warburg Syndrome LARGE, FKTN, POMT2 P326
X-linked mental retardation and MICPCH CASK P398
Y-Chromosome Microdeletions Chromosome Y P360
autosomal recessive demyelinating form SH3TC2; NEFL; GDAP1; EGR2; SBF2; MTMR2; PRX P353
capillary malformations, Parkes Weber syndrome RASA1 5q14.3 P409
mtDNA depletion syndrome TK2, MPV17, DGUOK, RRM2B, SUCLA2, SUCLG1 P089
nondystrophic myotonias and primary periodic paralyses CACNA1S, SCN4A P397-new
oculocutaneous albinism OCA2 15q13 P325
22q11 22q11 P324-basic research
3-methylcrotonylglycinuria I and II MCCC1 3q27, MCCC2 5q12 P194
9q subtelomeric deletion syndrome (9qSTDS) or Kleefstra syndrome. EHMT1 P340
Adult Polycystic Kidney Disease PKD1, PKD2 P352
Agammaglobulinemia BTK Xq21.3-q22 P210
Age-related macular degeneration (ARMD) CFH, CFHR3, CFHR1, CFHR2, 1q23 P236-basic research
Alagille Syndrome (AGS) JAG1 20p12.2 P184
Alpha-Thalassemia/Mental Retardation ATRX ; Xq13 P013
Alport syndrome, Hereditary Nephritis COL4A5 Xq22 P191
Alport syndrome, Hereditary Nephritis COL4A5 Xq22 P192
Alzheimer’s disease (AD) PSEN1 14q24.2 P254
Androgen insensitivity syndrome (AIS) AR Xq12 P074
Antithrombin (III) deficiency SerpinC1 1q25.1 P227
Aortic aneurysm syndrome TGFBR1 9q22, TGFBR2 3p22 P148
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) DSP 6p24, PKP2 12q11.21 P168
Atherosclerotic cardiovascular disease (risk of) 9q21.3 P273-basic research
Autism Spectrum Disorder SHANK3 22q13.33 P339
Autism 15q11-13: UBE3A, GABRB3; 16p11; SHANK3 22q13 P343
Autism-spectrum disorder SHANK2 11q13.3 P396
Autosomal Dominant Lateral Temporal Lobe Epilepsy, ADLTE ADAM22, GPR98, KCNA1, KCNA4, KCNAB1, LGI1, PDYN P408
Autosomal dominant lacrimoauriculodentodigital (LADD) FGF10 5p13, FGFR2 10q26 P231
Bartter syndrome CLCNKB 1p36 P266
Beckwith-Wiedemann Syndrome (BWS), Russell-Silver Syndrome (RSS) 11p15 region, H19, IGF2, CDKN1C, KCNQ1 ME030
Benign familial neonatal convulsion (BFNC) KCNQ2 20q13.33 P166
Birt-Hogg-Dube syndrome FLCN 17p11, Smith-Magenis syndrome region P256
Blood group genotyping RHCE, RHD, SLC4A1 P401
Blood group genotyping RHD, RHCE, ART4, GYPB, KEL, SLC4A1. P402
Blood group genotyping RHD, ART4, DARC, GYPB, GYPC, P403
Branchio-oto-renal dysplasia syndrome (BOR) EYA1 8q13.3. P153
Brugada / long QT SCN5A 3p22 P108
CMD, Merosin-deficient 6q22.33 P391
CMD, Merosin-deficient 6q22.33 P392
Canavan disease ASPA, 17p13 P025
Cardiac septal defects GATA4 8p23, GATA3 10p15 P234
Charcot Marie Tooth Disease CMT/HNPP region at 17p12 P405
Charcot Marie Tooth disease, x-linked GJB1 Xq13.1 P129
Charge syndrome CHD7 8q12.2 P201
Classic galactosemia GALT 9p13 P156
Cohen syndrome VPS13B 8q22 P321
Cohen syndrome VPS13B 8q22 P322
Congenital Adrenal Hyperplasia CYP21A2 6p21.3 P050
Congenital Heart Disease (CHD) GATA4 8p23, NKX2-5 5q35, TBX5 12q24, BMP4 14q22, CRELD1 3p25 P311
Congenital Heart Disease 25 different regions P424-basic research
Congenital adrenal hyperplasia (CAH) P450 oxireductase gene (POR) P312
Congenital long QT syndrome (LQT) KCNQ1 11p15.5, KCNH2 7q35 P114
Cornelia de Lange syndrome (CDLS) NIPBL 5q13.1 P141
Cornelia de Lange syndrome (CDLS) NIPBL 5q13.1 P142
Craniofacial disorders FGFRs, TWIST, MSX2, ALX4, RUNX2 P080
Creatine transporter, x-linked SLC6A8, Xq28 P049
Crystalline Corneoretinal CYP4V2 P149

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