| MIM |
Nemoc/vyšetření |
Chromozom |
Lokus |
Hum./nehum. |
| 0 |
Deficit biotinidázy |
3p25 |
BTD |
hum.
|
| 1 |
Identifikace osob, paternitní expertízy |
|
VNTR, STR, DNA-fingerprinting |
hum.
|
| 5 |
Chimerismus buněčný |
|
|
hum.
|
| 100800 |
Achondroplázie |
4p16.3 |
FGFR3 |
hum.
|
| 101000 |
Neurofibromatóza typu II |
22q12.2 |
NF2 |
hum.
|
| 101200 |
Sy. Apert |
10q26 |
FGFR2 |
hum.
|
| 101600 |
Sy. Pffeifer |
10q26 |
FGFR2 |
hum.
|
| 102574 |
Alfa-aktinin 3 |
11q13-q14 |
ACTN3 |
hum.
|
| 102578 |
Onkogenéza PML/RARA |
15q22,17q21.1 |
PML/RARA |
hum.
|
| 102582 |
Hyper imunoglobulín E, hyper IgE |
17q21-31 |
STAT3 |
hum.
|
| 103050 |
Def. adenylosukcinátlyázy (Psychomotorická retardace, Autismus) |
22q13.1 |
ADSL |
hum.
|
| 103900 |
Primární aldosteronismus |
8q21 |
GRA |
hum.
|
| 104300 |
Alzheimerova choroba (časná forma) |
14q24.3 PSEN1, 21q21 APP, 1q31-q42 PSEN2 |
PSEN1, APP, PSEN2 |
hum.
|
| 104750 |
Amyloidóza z depozice SAA1 |
11p15.1 |
SAA1 |
hum.
|
| 105210 |
Amyloidóza z depozice TTR |
18q12.1 |
TTR |
hum.
|
| 105400 |
Amyotrofická laterární skleróza |
21y22.1 |
SOD 1 |
hum.
|
| 105590 |
Anaplastický velkobuněčný lymfóm |
2p23 |
ALK |
hum.
|
| 105830 |
Sy. Angelman |
15q11-q13 |
ANCR, UBE3A |
hum.
|
| 106100 |
Hereditární angioedém - def. C1 inhibitoru |
11q11-q13.1 |
C1NH |
hum.
|
| 106150 |
Angiotensin I (Hypertenze, Ischemická ch. srdeční) |
1q42-q43 |
AGT |
hum.
|
| 106180 |
Angiotensin konvertující enzym (Hypertenze, Alzheimerova ch.) |
17q23 |
ACE,DCP1 |
hum.
|
| 106300 |
Ankylosující spondylitida |
6p21.3 |
HLA-B27 |
hum.
|
| 107300 |
Def. antitrombinu III (Trombofilie) |
1q23 |
AT3 |
hum.
|
| 107400 |
Def. alfa-1-antitrypsinu |
14q32 |
SERPINA1 |
hum.
|
| 107680 |
Amyloidóza z depozice ApoAI |
11q23-q24 |
ApoAI |
hum.
|
| 107720 |
Hypertrigyceridemie, def. LPL (ApoCIII) |
11q23 |
APOC3 |
hum.
|
| 107730 |
Def. apo-B100 (HF, a/hypo-betalipoproteinemie) |
2p24 |
APOB,FLDB |
hum.
|
| 107741 |
Defekt apoliproproteinu E |
19q13.2 |
APOE |
hum.
|
| 108330 |
Cytochrom P450, polypeptid 1A1 (citlivost na polycyklické aromatické uhlovodíky) |
15q22-q24 |
CYP1A1 |
hum.
|
| 109150 |
Spinocerebelární ataxie 3, Machado-Joseph ch. SCA3 |
14q24-q31 |
ATXN3 |
hum.
|
| 109535 |
Hyper IgM |
20q12-q13.2 |
gen CD40L, TNFSF5 |
hum.
|
| 109690 |
Beta-adrenergní receptor 2 (Astma noční) |
5q32 |
ADRB2 |
hum.
|
| 109691 |
Beta-adrenergní receptor 3 (Obezita) |
8p12 |
ADRB3 |
hum.
|
| 111680 |
Genotypizace krevnich skupin - RHD, RHCE, MNSs, Kidd, |
|
1p36.2-p.34 |
hum.
|
| 111700 |
Rh - krevně skupinový systém |
1p36 |
CDE |
hum.
|
| 113705 |
Onkogenéza BRCA1 |
17q21 |
BRCA1 |
hum.
|
| 113730 |
Odpřahovací protein 1 ( obezita, energetická bilance, termoregulace) |
4q31 |
UCP1 |
hum.
|
| 115310 |
Paragangliom |
1p36.1-p35 |
PGL4 |
hum.
|
| 115700 |
Typ katarakty, mutace v genu pro gama-D-krystalin |
2q33-q35 |
CRYGD |
hum.
|
| 116806 |
Kolorektální karcinom (Beta-catenin ) |
3p22-p21.3 |
CTNNB1 |
hum.
|
| 116860 |
Cerebrální kavernosni malformace, CCM1 |
7q11.2-q21 |
KRIT1 |
hum.
|
| 116897 |
Mutace CEBPA genu |
19q13.1 |
19q13.1 |
hum.
|
| 118220 |
Sy. Charcot-Marie-Tooth typ l |
17p11.2 |
PMP22 |
hum.
|
| 120435 |
Hereditární nepolyposní karc. tl. střeva, (Sy. Lynch ) |
2p22-p21 |
MSH2 |
hum.
|
| 120920 |
aHUS (hemolytic uremic syndrom, atypical) |
1q32 |
MCP |
hum.
|
| 121011 |
Nesyndromová hluchota, DFNB1 |
13q11-q12 |
GJB2, GJB6 |
hum.
|
| 121300 |
Hereditární koproporfyrie |
3q12 |
HCP |
hum.
|
| 123500 |
Sy. Crouzon |
10q26 |
FGFR2 |
hum.
|
| 123590 |
Myofibrilární myopatie z dysfunkce alfa-B-krystalinu |
11q22.3-q23.1 |
CRYAB |
hum.
|
| 123829 |
Familární maligní melanom |
12q14 |
CDK4 |
hum.
|
| 124020 |
Cytochrom P450, polypeptid 2C19 |
10q24.1-q24.3 |
CYP2C19 |
hum.
|
| 124030 |
Cytochrom P450, polypeptid 2D6 |
22q13.1 |
CYP2D6 |
hum.
|
| 125250 |
Optická atrofie 1 a hluchota |
3q28-q29 |
OPA1 |
hum.
|
| 125310 |
Mozková arteriopatie , CADASIL |
19p13.2-p13.1 |
NOTCH3 |
hum.
|
| 125850 |
Maturity-Onset Diabetes of the Young, type 1 |
20q12-q13.1 |
HNF4A |
hum.
|
| 125851 |
Maturity-Onset Diabetes of the Young, type 2 |
7p15-p13 |
GCK |
hum.
|
| 125853 |
Diabetes mellitus typ 2 |
10q25.3 |
TCF7L2 |
hum.
|
| 126340 |
Excision repair cross-complementing RODENT repair deficiency, complementation group 2 |
19q13.3 |
ERCC2, XPD |
hum.
|
| 126430 |
Topoisomerase DNA, II, Alpha |
17q21-q22 |
TOP2A |
hum.
|
| 127300 |
Lerri-Weil dyschondrosteoza |
SHOX |
Xpter-22.32 |
hum.
|
| 128100 |
Idiopatická torsní dystonie typ 1, DYT 1 |
9q34 |
TOR1A |
hum.
|
| 128230 |
Dopa-responsivní dystonie |
14q22.1-q22.2 |
DYT5 |
hum.
|
| 130650 |
Sy. Beckwith-Wiedemann |
11p15.5 |
CDKN1C |
hum.
|
| 131222 |
Onkogenéza - tymidylát fosforyláza |
22q13.32 |
ECGF1 |
hum.
|
| 131550 |
Onkogenéza EGFR |
7p12.3-p12.1 |
EGFR |
hum.
|
| 131760 |
Epidermolysis bullosa simplex (EBS) |
17q12,12q13 |
KRT14, KRT5 |
hum.
|
| 132700 |
Familiární cylindromatóza |
16q12-q13 |
CYLD |
hum.
|
| 132810 |
Epoxidhydroláza |
1p11 |
EPHX1 |
hum.
|
| 133435 |
Onkogenéza AML1/ETO |
8q22 |
ETO |
hum.
|
| 133450 |
Ewingův sarkom/PNET |
22q12 |
EWSR1 |
hum.
|
| 134370 |
aHUS (hemolytic uremic syndrom, atypical) |
1q32 |
CFH |
hum.
|
| 134570 |
Def. faktoru XIII (koagulace, stabilita fibrinu) |
6p25-p24 |
F113A1 |
hum.
|
| 134660 |
Glutathion-S-transferáza pi 1 |
11q13 |
GSTP1 |
hum.
|
| 134830 |
Beta-fibrinogen (FGB) |
4q28 |
FGB |
hum.
|
| 135940 |
Filaggrin |
FLG |
1q21 |
hum.
|
| 136351 |
Onkogenéza FLT3 |
13q12 |
FLT3 |
hum.
|
| 136850 |
Def. fumarát hydratázy, leiomyomy, leiomyosarkomy |
1q42.1 |
FH |
hum.
|
| 137750 |
Primární kongenitální glaukom |
|
|
hum.
|
| 137920 |
Diabetes mellitus MODY 5 |
17cen-q21.3 |
TCF2,HNF-1-BETA |
hum.
|
| 138350 |
Glutathion-S-transferáza M1 |
1p13.3 |
GSTM1 |
hum.
|
| 139320 |
Pseudohypoparathyroidismus, Albrightova hereditární osteodystrofie, pseudopseudohypopparathyroidismus |
20q13.2 |
GNAS1 |
hum.
|
| 139350 |
Epidermoloytická hyperkeratóza |
17q21-q22 |
KRT1 |
hum.
|
| 141900 |
Hemoglobinopatie |
11p15.5 |
HBB |
hum.
|
| 142623 |
Hirschsprungova ch. |
10q11.2 |
HSCR/MTC |
hum.
|
| 142800 |
Histokompatibilita A |
6p21.3 |
HLA-A |
hum.
|
| 142830 |
Histokompatibilita B |
6p21.3 |
HLA-B |
hum.
|
| 142840 |
Histokompabilita C |
6p21.3 |
C, HLA-C |
hum.
|
| 142857 |
Histokompabilita DR BETA-1 |
6p21.3 |
DRBETA-1; HLA-DRB1 |
hum.
|
| 142858 |
Histokompabilita DP BETA-1 |
6p21.3 |
DP BETA-l, HLA-DPB1 |
hum.
|
| 142900 |
Holt Oramův syndrom |
12q24.1 |
TBX5 |
hum.
|
| 143020 |
HPA1 polymorfism |
11p. |
HPA1 |
hum.
|
| 143100 |
Huntingtonova ch. |
4p16 |
HD |
hum.
|
| 143500 |
Sy. Gilbert |
2q37 |
UGT1A1 |
hum.
|
| 143890 |
Fam. hypercholesterolemie (FH) |
19p13.2 |
LDLR |
hum.
|
| 144010 |
Familiární hypercholesterolemie typu B, Familiární defekt apolipoproteinu B-100 (FDB) |
2p24 |
APOB |
hum.
|
| 144650 |
Hyperlipoptoteinemie typ V |
11q23 |
APOA5 |
hum.
|
| 145600 |
Maligní hypertermie |
19q13.1 |
RYR1 |
hum.
|
| 146000 |
Hypochondroplázie |
4p16.3 |
HCH |
hum.
|
| 146700 |
Ichthyosis vulgaris |
1q21 |
FLG |
hum.
|
| 146880 |
Histokompabilita DQ ALPHA -1 |
6p21.3 |
HLA-DQA1 |
hum.
|
| 146980 |
Onkogenéza (B-cell leukemie) |
2p12 |
IGKV |
hum.
|
| 147070 |
Klonalita IgH |
14q32 |
IGHV |
hum.
|
| 147100 |
B-lymfoproliferace (IGH) |
14q32 |
IGH |
hum.
|
| 147200 |
Imunoglobulin Kappa |
2p12 |
IGKC |
hum.
|
| 147510 |
Inzulin |
11p15.5 |
INS VNTR |
hum.
|
| 147720 |
Interleukin - 1A + lL-1B |
2q14 |
IL1B |
hum.
|
| 147796 |
Janusova kináza 2 , V617F mut.(Myeloproliferace s erytrocytózou) |
9p24 |
JAK2 |
hum.
|
| 148080 |
Epidermolytické hyperkeratosy - KRT10, ev. KRT1 |
17q21-q22, 12q13 |
KRT10, KRT1 |
hum.
|
| 150220 |
Laktozová intolerance |
xxx |
xxx |
hum.
|
| 150800 |
Leiomyomy(četné) podkožní a děložní |
1q42.1 |
FH |
hum.
|
| 151400 |
Onkogenéza BCL1/IgH |
11q13 |
BCL1 |
hum.
|
| 151410 |
Fuzní gen BCR/ABL |
22q11.21 |
BCR/ABL |
hum.
|
| 151430 |
Onkogenéza BCL2/IgH |
18q21.3 |
BCL2 |
hum.
|
| 153440 |
Lymfotoxin-Alfa, LTA |
6p21.3 |
LTA |
hum.
|
| 154500 |
Sy. Treacher-Collins- Franceschetti |
s 5q32-q33.1 |
TCOF |
hum.
|
| 154545 |
Lektin, mannan vázající |
10q11.2-q21 |
MBL2 |
hum.
|
| 154700 |
Sy. Marfan (MFS1) |
15q21.1 |
FBN1 |
hum.
|
| 154705 |
Sy. Marfan (MFS2) |
3p22 |
TGFBR2 |
hum.
|
| 155240 |
Medulární karcinom štítné žlázy |
10q11.2 |
RET |
hum.
|
| 156100 |
Akutní myeloidní leukémie včetně MDS-RAEB |
meningioma l/22q11 |
MGCR1 |
hum.
|
| 156569 |
Metylace promotoru-06-metylguanin-DNA-metyltransferázy |
10q.26 |
MGMT |
hum.
|
| 157640 |
Progresivní externí oftalmoplegie s delecemi v mtDNA, autozomálně dominantní typ 1 |
15q25 |
POLG |
hum.
|
| 158350 |
Sy. Cowden, CD, Sz Bannayan-Riley-Ruvacalba, BRRS |
10q23.31 |
PTEN |
hum.
|
| 158900 |
Facioskapulohumerální svalová dystrofie (FSHD) |
4q35 |
FSHD1A |
hum.
|
| 159440 |
Myelín proteín zero |
1q22 |
MPZ |
hum.
|
| 159530 |
MPL(Myeloproliferativní onemocnění) |
1p34 |
MPL |
hum.
|
| 159555 |
Onkogenéza (ALL)-MLL |
11q23, t(4;11) |
MLL/* |
hum.
|
| 159557 |
Onkogenéza - (ALL1) MLLT2/AF4 |
4q21, t(4;11) |
MLL/AF4 |
hum.
|
| 159900 |
Myoklonická dystonie (DYT11) |
7q21 |
SGCE |
hum.
|
| 160730 |
Myosin |
17p13.1 |
MYH1 |
hum.
|
| 160745 |
Onkogenéza MYH11/CBFB |
16p13,16q22 |
MYH11/CBFB |
hum.
|
| 160760 |
Hypertrofické kardiomyopatie |
MYH7, MyBPC3, TNNT2 |
14q12, 1q32 |
hum.
|
| 160775 |
Trombocytopatie |
22q11.2 |
MYH 9 |
hum.
|
| 160800 |
Kongenitální myotonie, typ Thomsen, |
7q35 |
CLCN1 |
hum.
|
| 160900 |
Myotonická dystrofie typu I, (DM1( |
19q13.2-q13.3 |
DMPK |
hum.
|
| 162000 |
Familiární juvenilní hyperurikemická nefropatie (FJHN) |
16p13.11-p12.3 |
UMOD |
hum.
|
| 162200 |
Neurofibromatóza typu I |
17q11.2 |
NF1 |
hum.
|
| 162300 |
Mnohočetná endokrinní neoplázie, typ IIB; |
10q11.2 |
MEN2B |
hum.
|
| 162500 |
Tomakulózní neuropatie - HNPP |
17p11.2 |
HNPP |
hum.
|
| 162860 |
Polycytemia rubra vera |
19q13.2 |
PRV-1 |
hum.
|
| 163729 |
Nitric oxidová syntása 3, NOS 3 |
7q36 |
ENOS, NOS3 |
hum.
|
| 164040 |
Mutace NPM 1 genu |
5q35 |
NPM 1 |
hum.
|
| 164400 |
Spinocerebelární ataxie 1, SCA1 |
6p24 |
ATXN1 |
hum.
|
| 164500 |
Spinocerebelární ataxie 7, SCA7 |
3p21.1-p12 |
ATXN7 |
hum.
|
| 164757 |
Onkogenéza BRAF (melanom, kolorektální karcinom, papilární karcinom štítné žlázy) |
7q34 |
BRAF |
hum.
|
| 164761 |
Onkogenéza RET - karc. štítné žlázy |
10q11.2 |
RET |
hum.
|
| 164785 |
Onkoprotein MDM2, Mouse double minute 2 homolog |
12q14.3-q15 |
MDM2 |
hum.
|
| 164790 |
Onkogenéza - NRAS |
1p13.2 |
NRAS |
hum.
|
| 164840 |
Onkogenéza - MYCN |
2p24.1 |
MYCN |
hum.
|
| 164860 |
Papilární karcinom ledviny, RCCP2 |
7q31 |
MET |
hum.
|
| 164870 |
Nádory prsu |
17q21.1 |
ERBB2 |
hum.
|
| 164920 |
Gastrointestinální stromální tumory (mut.c-kit)
|
4q12 |
KIT |
hum.
|
| 165080 |
Akutní myeloidnáí leukémie četně MDS-RAEB |
ETS-related gene /21q22 |
ERG |
hum.
|
| 165215 |
Akutní myelodní leukémie + myelodysplastický syndróm |
3q26,2 |
EVI1 |
hum.
|
| 165500 |
Optická atrofie 1, AD |
3q28-q29 |
OPA1 |
hum.
|
| 166200 |
Osteogenesis imperfecta |
17q21.31-q22. 7q22.1 |
COL1A1 |
hum.
|
| 167800 |
Hereditární pankreatitida |
7q35,5q32,7q31 |
PRSS1,SPINK1,CFTR |
hum.
|
| 168300 |
Kongenitální myotonie (PMC, HYPP) |
17q23.1-q25.3 |
SCN4A |
hum.
|
| 168461 |
Cyclin D1 |
11q13 |
CCND1 |
hum.
|
| 170400 |
Familiární periodická hypokalemická obrna |
1q32 |
CACNAIS |
hum.
|
| 171060 |
Progresivní familiální intrahepatická cholestasa |
7q21.1 |
ABCB4 |
hum.
|
| 171300 |
Feochromocytom |
10q11.2 |
RET |
hum.
|
| 171400 |
Mnohočetná endokrinní neoplázie, typ IIA |
10q11.2 |
MEN2A |
hum.
|
| 171834 |
Onkogenéza PIK3CA |
3q26.3 |
PIK3CA |
hum.
|
| 173360 |
Inhibitor aktivátoru plazminogenu (PAI-1) |
7q21.3-q22 |
PAI1 |
hum.
|
| 173470 |
Glykoprotein IIIa (trombocytopenie) |
17q21.32 |
GP3A |
hum.
|
| 173490 |
Gastrointestinální stromální tumory (mut.PDGFRA) |
4q12 |
PDGFRA |
hum.
|
| 173910 |
AD polycystóza ledvin |
4q |
PKD2 |
hum.
|
| 174900 |
Juvenilní polypóza |
18q21.1 |
SMAD4 |
hum.
|
| 175100 |
Adenomatózní polypóza tl. střeva |
5q21-q22 |
APC |
hum.
|
| 175200 |
Sy. Peutz-Jeghers |
19p13.3 |
STK11 |
hum.
|
| 176000 |
Akutní intermitentní porfyrie |
11q23.3 |
AIP |
hum.
|
| 176200 |
Porfyrie variegata |
1q22, 6p21.3 |
|
hum.
|
| 176270 |
Sy. Prader-Willi, PWS |
15q11-q13 |
PWCR |
hum.
|
| 176450 |
Sy Curracino |
HLXB9 |
7q36 |
hum.
|
| 176640 |
Creutzfeldt-Jakobova choroba |
20pter-p12 |
PRNP |
hum.
|
| 176801 |
Def. Prosaposinu a saposinů A,B,C,D |
10q22.1 |
PSAP |
hum.
|
| 176860 |
Def. proteinu C |
2q13-q14 |
PROC |
hum.
|
| 176880 |
Def. proteinu S |
3p11.1 |
PROS |
hum.
|
| 176930 |
Def. faktoru II, protrombinu, 20210G-A polymorfismus |
11p11-q12 |
F2 |
hum.
|
| 180200 |
Retinoblastom |
13q14.2 |
RB1 |
hum.
|
| 180240 |
Onkogenéza RARA |
17q21.1 |
RARA |
hum.
|
| 180860 |
Sy. Russell-Silver |
7p11.2 |
RSS |
hum.
|
| 182125 |
Dopa-resposivní dystonie, SPR1 |
2p14-p12 |
SPR |
hum.
|
| 183086 |
Spinocerebelární ataxie 6, SCA6 |
19p13 |
CACN A1A |
hum.
|
| 183090 |
Spinocerebelární ataxie 2, SCA2 |
12q24 |
ATXN2 |
hum.
|
| 185620 |
Deficit dytochrom c-oxidázy - Leigh syndrom |
9q34 |
SURF1 |
hum.
|
| 186810 |
T-buněční antigenový receptor delta |
14q11.2 |
TCRD |
hum.
|
| 186880 |
Onkogenéza (T-cell leukemie/lymfomy) |
14q11.2 |
TCRA |
hum.
|
| 186930 |
T-buněční antigenový receptor beta |
7q35 |
TCRB |
hum.
|
| 186970 |
Onkogenéza Klonalita TCR-gama |
7p15-p14 |
TCRG |
hum.
|
| 187040 |
T-buněční akutní lymfotická leukemie |
1p32 |
TAL1 |
hum.
|
| 187270 |
Telomerázová aktivita |
5p15.33 |
TERT |
hum.
|
| 187550 |
Talasémie |
11p15 |
HBB |
hum.
|
| 187600 |
Thanatoforická dysplázie TD1, TD2 |
4p16.3 |
FGFR3 |
hum.
|
| 187680 |
Thiopurin S-metyltransferáza |
6p22.3 |
TPMT |
hum.
|
| 188040 |
Trombophilia, aHUS (hemolytic uremic syndrom, atypical), |
20p11.2 |
THBD |
hum.
|
| 188055 |
Faktor 5 Leiden |
1q23 |
G1691A |
hum.
|
| 188350 |
Onkogenéza - tymidylát syntáza |
18p11.32 |
TYMC |
hum.
|
| 188400 |
Sy. DiGeorge/CATCH22/ |
22q11.2 |
DGS |
hum.
|
| 188830 |
Carney complex 1 |
17q23-q24 |
PRKAR1A |
hum.
|
| 189990 |
Onkogenéza MYB |
6q22 |
MYB |
hum.
|
| 190020 |
Onkogenéza HRAS |
11p.15.5 |
KRAS2 |
hum.
|
| 190070 |
Onkogenéza K-RAS |
12p12.1 |
KRAS2 |
hum.
|
| 190080 |
Onkogenéza MYC |
8q24.12-q24.13 |
MYC |
hum.
|
| 190181 |
Sy. Marfan, typ 2 (MFS2) |
|
TGFBR1 |
hum.
|
| 190182 |
Sy.Marfan, typ 2 (MFS2) |
3p22 |
TFGFR2 |
hum.
|
| 190195 |
Ichtyózyformní erythroderma |
14q11.2 |
TGM1 |
hum.
|
| 190300 |
Esenciální tremor |
3q13 |
DRD3 |
hum.
|
| 191090 |
Tuberózní skleróza |
16p13 |
TSC2 |
hum.
|
| 191160 |
Tumor-nekrotizující faktor |
6p21.3 |
TNF |
hum.
|
| 191170 |
Sy Li-Fraumeni, LFS |
17p13.1 |
TP53 |
hum.
|
| 191290 |
Neuroblastom |
11p15.5 |
TH |
hum.
|
| 191830 |
Ageneze ledvin |
10q11.2, 22q13.31 |
HRA |
hum.
|
| 192090 |
Hereditární rakovina žaludku |
16q22.1 |
CDH1 |
hum.
|
| 192500 |
Sy. prodlouženého QT intervalu |
11p15.5 |
LQT |
hum.
|
| 192974 |
Integrin, PLATELET RECEPTOR FOR COLLAGEN |
5q23-q31 |
ITGA2, GP Ia/IIA |
hum.
|
| 193300 |
Sy. Von Hippel-Lindau |
3p26-p25 |
VHL |
hum.
|
| 193400 |
von Willebrandova choroba |
12p13.3-12q13.2 |
VWE |
hum.
|
| 194070 |
Wilmsův tumor |
11p13 |
WT1 |
hum.
|
| 194200 |
Syndrom Wolff-Parkinson-White |
7q36 |
PRKAG2 |
hum.
|
| 194360 |
X-ray repair, complementing defective, in chinese hamster cells 1 |
19q13.2 |
XRCC1 |
hum.
|
| 201450 |
Def. MCAD: porucha mitochondriální beta-oxidace |
1p31 |
ACADM |
hum.
|
| 201910 |
Kongenitální adrenální hyperplazie( CAH) |
6p21.3 |
CYP21A2 |
hum.
|
| 202010 |
Kongenitální adrenální hyperlazie (CAH) |
8q21 |
CYP11B1 |
hum.
|
| 203450 |
Alexandrova nemoc |
17q21, 11q13 |
GFAP |
hum.
|
| 203500 |
Alkaptonurie |
3q21-q23 |
HGD |
hum.
|
| 203700 |
Sy. Alpers |
15q25 |
POLG1 |
hum.
|
| 203750 |
Deficit mitochondriální acetoacetyl-CoA thiolázy(beta-ketothiolázy) |
11q22.3-q23.1 |
ACAT1 |
hum.
|
| 204200 |
Neuronální ceroid lipofuscinóza 3 (NCL3) |
16p12.1 |
CLN3 |
hum.
|
| 204500 |
Neuronální ceroid lipofuscinóza 2 (NCL2) |
11p15.5 |
CLN2 |
hum.
|
| 212065 |
CDG syndrom typ 1a |
16p13.3-p13.2 |
CDGIa |
hum.
|
| 212750 |
Celiakální sprue |
6p21.3 |
CD |
hum.
|
| 214400 |
Charcot-Marie-Tooth choroba, typ 4A; CMT4A |
8q13-q21.1 |
GDAP1 |
hum.
|
| 217000 |
Def. C2 složky komplementu |
6p21.3 |
C2 |
hum.
|
| 217030 |
aHUS (hemolytic uremic syndrom, atypical) |
4q25 |
CFI |
hum.
|
| 218800 |
Sy. Crigler-Najjar I |
2q37 |
UGT1A1 |
hum.
|
| 219700 |
Cystická fibróza |
7q31.2 |
CFTR |
hum.
|
| 219800 |
Cystinóza |
17p13 |
CTNS |
hum.
|
| 220290 |
Hluchota (nesyndromální) - DFNB1 |
13q11-q12 |
GJB2 |
hum.
|
| 223100 |
Laktózová intolerance |
2q21 |
xxx |
hum.
|
| 226600 |
Epidermolysis bullosa dystrophica (RDEB ,DDEB) |
3p21.3 |
COL7A1 |
hum.
|
| 226670 |
Epidermolysis bullosa se svalovou dystrofií |
8q24 |
PLEC1 |
hum.
|
| 227400 |
Def. faktoru V |
1q23 |
APC, F5, G169A |
hum.
|
| 227500 |
Faktor VII |
FVII |
13q34 |
hum.
|
| 227810 |
Syndrom Fanconi-Bickel(glykonenóza XI) |
3q26.1-q26.3 |
GLUT2 |
hum.
|
| 229300 |
Friedreichova ataxie, FRDA |
9q13 |
FXN |
hum.
|
| 229600 |
Hereditární fruktózová intolerance |
9q22.3 |
ALDOB |
hum.
|
| 230400 |
Galaktosemie |
9p13 |
GALT |
hum.
|
| 230800 |
Gaucherova ch. |
1q21 |
GBA |
hum.
|
| 231670 |
Glutarová acidurie typ I |
19p13.2 |
GCDH |
hum.
|
| 232200 |
Glykogenóza typ 1A (GSD1A) |
17q21 |
G6PC |
hum.
|
| 232220 |
Glykogenóza, typ Ib (GSD1B) |
11q23 |
G6PT1 |
hum.
|
| 232300 |
Glykogenóza, typ II (GSDII) |
17q25.2-q25.3 |
GAA |
hum.
|
| 232400 |
Gykogenóza, typ III |
AGL |
1p21 |
hum.
|
| 232500 |
Glykogenóza IV |
3p12 |
GBE l |
hum.
|
| 234200 |
Sy. Hallervorden-Spatz (pantotenát kináza) |
20p13 |
PKAN |
hum.
|
| 235200 |
Hemochromatóza |
6p21.3 |
HFE |
hum.
|
| 236200 |
Homocystinurie (def.CBS)
|
21q22.3 |
CBS |
hum.
|
| 237500 |
Syndrom Dubin-Johnson |
10q24 |
MRP2 |
hum.
|
| 238331 |
Deficit pyruvátdehydrogenázy - deficit E3 podjednotky |
7q31-q32 |
DLD |
hum.
|
| 239510 |
Hyperprolinenie, typ II |
ALDH4A1 |
1q36 |
hum.
|
| 243400 |
Arylamin-N-acetyltransferáza |
8p23.1-p21.3 |
NAT2, AAC2 |
hum.
|
| 245200 |
M.Krabbe |
14q31 |
GALC |
hum.
|
| 245349 |
Deficit pyruvátdehydrogenázy - deficit proteínu X vázajícího E 3 podj. |
11p13 |
PDHX |
hum.
|
| 246450 |
3-hydroxy-3-methylglutarova acidurie |
1pter-p33 |
HMGCL |
hum.
|
| 250100 |
Leukodystrofie metachromatická |
22q13.31-qter |
ARSA |
hum.
|
| 251000 |
Methylmalonová acidurie, typ mut(0) |
6p21 |
MUT |
hum.
|
| 251100 |
Methylmalonová acidurie, typ cblA |
4q31.1-q31.2 |
MMAA |
hum.
|
| 251110 |
Methylmalonová acidurie, typ cblB |
12q24 |
MMAB |
hum.
|
| 251260 |
Sy. Nijmegen breakage |
8q21 |
NBS |
hum.
|
| 251880 |
Deplece mtDNA |
|
|
hum.
|
| 252011 |
Deficit sukcinátdehydrogenázy |
5p15 |
SDHA |
hum.
|
| 252650 |
Mukolipidóza typ IV |
19p13.3-p13.2 |
ML4 |
hum.
|
| 252800 |
Mukopolysacharidóza typ I |
4p16.3 |
IDUA |
hum.
|
| 252930 |
Mukopolysacharidóza typ IIIC |
8p11.1 |
HGSNAT |
hum.
|
| 253220 |
Mukopolysacharidóza typ VII |
7q21.11 |
GUSB |
hum.
|
| 253260 |
Deficit biotinidázy |
3p25 |
BTD |
hum.
|
| 253300 |
Spinální svalová atrofie |
5q12.2-q13.3 |
SMN1 |
hum.
|
| 253600 |
Svalová dystrofie pletencová typ 2A (LGMD2A) |
15q15.1-q21.1 |
CAPN3 |
hum.
|
| 254500 |
Onkogenéza - detekce fúzního transkriptu IGH/MMSET |
14q32/4p16.3, t(4;14) |
IGH/MMSET |
hum.
|
| 255700 |
Kongenitální myotonie, typ Becker |
7q35 |
CLCN1 |
hum.
|
| 256731 |
Neuronální ceroid lipofuscinóza 5 (NCL5) |
13q21.1-q32 |
NCL5 |
hum.
|
| 257200 |
Niemann-Pickova ch. A/B |
11p15 |
SMPD1 |
hum.
|
| 257220 |
Niemann-Pickova ch., typ C1 |
18q11-q12 |
NPC1 |
hum.
|
| 258450 |
Progresívní externí oftalmoplegie s delecemi v mtDNA, AR |
15q25 |
POLG |
hum.
|
| 261100 |
Imerslund-Gräbeckův syndrom |
14q32 |
AMN |
hum.
|
| 261600 |
Fenylketonurie (PKU) |
12q-q24.1 |
PAH |
hum.
|
| 266100 |
Pyridoxin depedentní epilepsie |
5q31 |
ALDH7A1 |
hum.
|
| 266600 |
Crohnova choroba |
16q12 |
CARD15/NOD2 |
hum.
|
| 268220 |
Rhabdomyosarkom |
1p36.2-p36.12,13q14.1, |
ARMS |
hum.
|
| 268800 |
GM2-gangliosidosa typ II (M.Sandhoff) |
5q13 |
HEXB |
hum.
|
| 270400 |
Sy. Smith-Lemli-Opitz (SLOS) |
11q12-q13 |
DHCR7 |
hum.
|
| 271900 |
M.Canavan |
17pter-p13 |
ASPA |
hum.
|
| 274270 |
Onkogenéza - dihydropyrimidin dehydrogenáza |
1p22 |
DPYD |
hum.
|
| 274600 |
Sy. Pendred - PDS |
7q31 |
SLC26A4 |
hum.
|
| 276700 |
Tyrosinémie I |
15q23-q25 |
FAH |
hum.
|
| 277900 |
Wilsonova choroba (WD) |
13q14-q21 |
ATP7B |
hum.
|
| 278300 |
Xanthinurie |
2p23-p22 |
XDH |
hum.
|
| 300068 |
Sy. androgenové insesitivity(AIS) |
Xq11-q12 |
AR |
hum.
|
| 300079 |
Gen BIRC4 odující protein |
Xq25 |
BIRC4 |
hum.
|
| 300100 |
Adrenoleukodystrofie X-vázaná |
Xq28 |
ABCD1 |
hum.
|
| 300257 |
Danonova choroba |
Xq24 |
LAMP2 |
hum.
|
| 300259 |
X-antigen Family, Member 1D |
X |
XAGE 1D, XAGE1 |
hum.
|
| 300289 |
X-antigen Family, Member 1D |
X |
XAGE 1D, XAGE1 |
hum.
|
| 300299 |
Těžká kongenitální neutropénie vázaná na chromozom X |
Xp11.23-p11.22 |
XLN |
hum.
|
| 300300 |
Brutonova agamaglobulinemie |
Xq21.3-q22 |
BTK |
hum.
|
| 300322 |
Def. hypoxanthin-guanin-fosforibosyltransferázy, Lesch Nyhanův syndrom |
Xq26-q27.2 |
HPRT |
hum.
|
| 300356 |
Mohr-Tranebjaergův syndrom |
Xq22 |
MTS |
hum.
|
| 300376 |
Muskulární dystrofie, typ Becker |
Xp21.2 |
BMD |
hum.
|
| 300391 |
Pohlaví |
Xp22, Yp11 |
AMELX, AMELY |
hum.
|
| 300400 |
Těžká kombinovaná imunodeficience, XSCID |
Xq13 |
IL2RG |
hum.
|
| 300419 |
Přenašečství Spinální muskulární atrofie metodou MLPA |
Xp22.13 |
MRXARX |
hum.
|
| 300502 |
Deficit pyruvádehydrogenázy, X-vázané |
Xp22.2-p22.1 |
PDHA1 |
hum.
|
| 300635 |
Diagnostika X-lymfoproliferativního syndromu 2 |
Xq25 |
XLP2 |
hum.
|
| 300672 |
Westúv syndrom |
Xp22 |
CDKI5 |
hum.
|
| 301000 |
Sy. Wiskott-Aldrich |
Xp11.23-p11.22 |
WAS |
hum.
|
| 301050 |
Alportův syndrom |
Xq22.3 |
COL4A5 |
hum.
|
| 301200 |
Pohlaví |
Xp22, Yp11 |
AMELX, AMELY |
hum.
|
| 301500 |
Fabryho choroba, dif.angiokeratom |
Xq22 |
GLA |
hum.
|
| 302060 |
Sy. Barth |
Xq28 |
TAZ |
hum.
|
| 302800 |
Charcot-Marie-Tooth ch. X dominantní |
Xq13.1 |
GJB1 (Connexin 32) |
hum.
|
| 302960 |
Chondrodysplasia punctata, X-dominantní, CDPX2 |
Xp11.23-p11.22 |
EBP |
hum.
|
| 303350 |
L1 syndrom |
Xq28 |
L1CAM |
hum.
|
| 306700 |
Hemofilie A |
Xq28 |
F8C |
hum.
|
| 306900 |
Hemofilie B |
Xq27.1-q27.2 |
F9 |
hum.
|
| 308240 |
Duncanova nemoc |
Xq25 |
SH2D1A |
hum.
|
| 308300 |
Incontinentia pigmenti |
Xq28 |
IKBKG, NEMO |
hum.
|
| 309000 |
Sy. Lowe - gen OCRL |
Xq26.1 |
OCRL |
hum.
|
| 309550 |
Sy. fragilního X,( FRAXA) |
Xq27.3 |
FMR1 |
hum.
|
| 309900 |
Mukopolysacharidóza typ II |
Xq28 |
IDS |
hum.
|
| 310200 |
Svalová dystrofie, typ Duchenne/Becker |
Xp21.2 |
DMD |
hum.
|
| 310300 |
Svalová dystrofie, typ Emery-Dreifuss (EDMD) |
Xq28 |
EMD |
hum.
|
| 311250 |
Def. ornithintranskarbamylázy |
Xp21.1 |
OTC |
hum.
|
| 312080 |
Pelizaeus Merzbacherova ch. |
Xq22 |
PLP1 |
hum.
|
| 312170 |
Deficit pyruvátdekarboxylázy, X-vázané |
xp22.2-p22.1 |
PDHA1 |
hum.
|
| 312700 |
X-vázaná juvenilní retinoschisa, XLRS1 |
Xp22.2-22.1 |
RS1 |
hum.
|
| 312750 |
Sy. Rett |
Xq28, Xp22 |
RTT |
hum.
|
| 312863 |
Kombinovaná imunodeficience, XCID |
Xq13 |
IL2RG |
hum.
|
| 313200 |
Spinální a bulbární muskulární atrofie - Kennedyho choroba, SMAX1 |
Xq11-q12 |
AR |
hum.
|
| 313700 |
Klonalita pomocí lokusu HUMARA |
Xq11-q12 |
AR |
hum.
|
| 313900 |
Trombocytopénie vázaná na chromozom X |
Xp11.23-p11.22 |
THC1 |
hum.
|
| 400003 |
Mikrodelece chromozomu Y (DAZ) |
Yq11 |
DAZ1 |
hum.
|
| 415000 |
Delece v AZF na Y chromozomu (sterilita u mužů) |
Yq11.2 |
AZFa,b,c |
hum.
|
| 480000 |
Determinace pohlaví na chromozomu Y (SRY) |
Yp11.3 |
SRY |
hum.
|
| 530000 |
Sy. Kearns-Sayre |
mtDNA |
KSS |
hum.
|
| 535000 |
Leberova hereditární optická neuropatie |
mtDNA |
LHON |
hum.
|
| 540000 |
Mitochondriopatie MELAS |
mtDNA |
MELAS |
hum.
|
| 545000 |
Mitochondriopatie MERRF |
mtDNA |
MERRF |
hum.
|
| 551500 |
Mitochondriopatie NARP |
mtDNA |
NARP |
hum.
|
| 557000 |
Sy. Pearson (marrow-pancreas) |
mtDNA |
|
hum.
|
| 561000 |
Maternálně děděná ztráta sluchu(nesyndromová) |
mtDNA |
MRRNRl, MTTS1 |
hum.
|
| 600143 |
Neuronální ceroid lipofuscinóza 8 (NCL8) |
8pter-p22 |
CLN8 |
hum.
|
| 600160 |
Familiární maligní melanom |
9p21 |
CDKN2A |
hum.
|
| 600185 |
Onkogenéza BRCA2 |
13q12.3 |
BRCA2 |
hum.
|
| 600192 |
Synoviální sarkom |
18q11.2/Xp11.2 |
SYT/SSX1,2 |
hum.
|
| 600431 |
Methylace promotoru p15 (INK 4B) |
|
9p21 |
hum.
|
| 600436 |
Glutathion-S-transferáza T1 |
22q11.2 |
GSTT1 |
hum.
|
| 600496 |
Maturity-Onset Diabetes of the Young, type 3 |
12q24.2 |
TCF1,HNF-1ALPHA |
hum.
|
| 600618 |
Onkogenéza (ALL)-TEL/AML1 |
12p13, t(12;21) |
TEL/AML1 |
hum.
|
| 600636 |
Caspase 3, Apoptosis |
4q35 |
CASP3 |
hum.
|
| 600646 |
Protein C receptor |
20q11.2 |
EPCR |
hum.
|
| 600678 |
Hereditární nepolyposní karcinom tlustého střeva (Sy.Lynch) |
2p16 |
MSH6 |
hum.
|
| 600725 |
Holoprosencefalie,HPE3 |
7q36 |
SHH |
hum.
|
| 600791 |
Nesyndromová hluchota - DFNB4 |
7q31 |
SLC26A4 |
hum.
|
| 600835 |
Chemokine, CXC MOTF, LIGAND 12(Stromal Cell-Derived Factor 1) |
10q11.1 |
CXCL12 |
hum.
|
| 600882 |
Charcot-Marie-Tooth choroba, typ 2B; CMT2B |
3q21 |
RAB7 |
hum.
|
| 600890 |
Def. LCHAD: porucha mitochondriální beta-oxidace |
2p23 |
HADHA |
hum.
|
| 600937 |
Potassium channel |
11p15.1 |
KCNJ11 |
hum.
|
| 600968 |
Gitelmanův syndrom |
16q13 |
SLC12A3 |
hum.
|
| 601051 |
Mesothelin, MSLN |
X |
MSLN |
hum.
|
| 601097 |
Periferální Myelin Protein 22, (CMT1A) |
17p11.2 |
PMP22 |
hum.
|
| 601130 |
Cytochrom P450, polypeptid 2C9 |
10q24 |
CYP2C9 |
hum.
|
| 601172 |
Chondroitín sulfát proteoglycan 4 |
15 |
CSPG 4 |
hum.
|
| 601267 |
Chemokine, CC MOTIF, RECEPTOR 2 |
3p21 |
CCR2 |
hum.
|
| 601309 |
Sy. Gorlin |
9q22.3 |
PTCH |
hum.
|
| 601313 |
AD polycystóza ledvin |
16p13 |
PKD1 |
hum.
|
| 601373 |
Chemokine, CC MOTIF, RECEPTOR 5 |
3p21 |
CCR5 |
hum.
|
| 601419 |
Myofbrilární myopathie z dysfunkce desmínu |
2q35 |
DRM |
hum.
|
| 601455 |
Charchot-Marie Tooth choroba, typ 4D, CMT4D, HMSN |
8q24.3 |
CMT4D |
hum.
|
| 601487 |
Receptor aktivovaný peroxizómovými proliferátory - gamma 2 |
3p25 |
PPARG |
hum.
|
| 601596 |
Charchot-Marie Tooth choroba, typ CMT4C, HMSN |
s 5q32 |
CMT4C, HMSN |
hum.
|
| 601607 |
Rhabdoid predispoziční syndrom |
22q11.23 |
INI1 |
hum.
|
| 601622 |
Sy. Seathre-Chotzen |
7p21 |
TWIST1 |
hum.
|
| 601665 |
Obezita |
FTO |
16q12.2 |
hum.
|
| 601780 |
Neuronální ceroid lipofuscinóza 6 (NCL6) |
15q21-q23 |
CLN6 |
hum.
|
| 601785 |
CDG-Ia - mutace genu PMM2 |
16p13.3 |
CDG-Ia |
hum.
|
| 601982 |
8-Oxoguanin DNA glycosylase, OGG1 |
3p26.2 |
OGG1 |
hum.
|
| 602023 |
Barterův syndrom |
1p36 |
CLCNKB |
hum.
|
| 602125 |
Deficit cytochrom c-oxidázy |
17p12-p11.2 |
COX10 |
hum.
|
| 602195 |
Dominatní hereditární motorická neuropatie, HSPB1 |
7q11.23 |
HSP27 |
hum.
|
| 602228 |
Transcription factor 7-like 2 |
10q25.3 |
TCF7L2 |
hum.
|
| 602273 |
Sy. Birt-Hogg-Dube |
17p11.2 |
FLCN |
hum.
|
| 602298 |
RAS-ASSOCIATED PROTEIN RAB7 |
3q21 |
RAB7 |
hum.
|
| 602337 |
Sy. Robinow, AR |
9q22 |
ROR2 |
hum.
|
| 602568 |
Homocystinurie způsobená defektem v metabolismu kot |
|
|
hum.
|
| 602579 |
CDG syndrom typ Ib |
15q22-qter |
MPI |
hum.
|
| 602630 |
Holoprosencefalie, HPE4 |
18p11.3 |
TGIF |
hum.
|
| 602668 |
Myotonická dystrofie typ II, (DM2, PROMM) |
3q13.3-q24 |
ZNF9 |
hum.
|
| 602768 |
Sy. Jarcho-Levin |
19q13 |
DLL3 |
hum.
|
| 602849 |
Sy. Muenke |
4p16.3 |
FGFR3 |
hum.
|
| 603041 |
Sy. MNGIE |
22q13.32 |
ECGF1 |
hum.
|
| 603073 |
Holoprosencefalie, HPE5 |
13q32 |
ZIC2 |
hum.
|
| 603147 |
CDG syndrom typ Ic |
1p22.3 |
ALG6 |
hum.
|
| 603202 |
Laktózová intolerance |
2q21 |
LCT |
hum.
|
| 603273 |
Ektrodaktylie, ektodermální dysplázie, rozštěp rtu/patra |
3q27 |
TP63 |
hum.
|
| 603284 |
Cerebrální kavernosni malformace, (CCM2) |
7p13 |
CCM2(MGC4067) |
hum.
|
| 603285 |
Cerebrální kavernosni malformace, (CCM3) |
3q26.1 |
PDCD10 |
hum.
|
| 603644 |
Deficit cytochrom c- oxidázy |
17p13-p12 |
SCO1 |
hum.
|
| 603646 |
Deficit cytochrom c- oxidázy |
10q24 |
COX15 |
hum.
|
| 603714 |
Holoprosencefalie, HPE2 |
2p21 |
SIX3 |
hum.
|
| 604134 |
TTP, Metalloproteáza s trombospondinom typ 1 MOTIF |
9q34 |
ADAMTS13 |
hum.
|
| 604168 |
Kongenitální katarakta s faciální dysmorfií a neuropatií - CCFDN |
18q23 |
CTDP1 |
hum.
|
| 604272 |
Mutace SCO2 genu |
22q13 |
SCO2 |
hum.
|
| 604273 |
Deficit ATP syntázy - mitochondriální neonatální encefalokardiomyo |
8q21.11 |
TMEM70 |
hum.
|
| 604290 |
Aceruloplasminemia |
3q23-q24 |
CP |
hum.
|
| 604292 |
Ektodermální dyslázie , sy Cleft /Palate |
3q27 |
EEC3 |
hum.
|
| 604305 |
Histokompabilita DQ BETA-1 |
6p21.3 |
DQ BETA-1; HLA-DQB1 |
hum.
|
| 604373 |
Hereditární nádor prsu |
22q12.1 |
CHEK2 |
hum.
|
| 604377 |
Deficit cytochrom c-oxidázy - fatální kardioencefalomyopatie |
22y13 |
SCO2 |
hum.
|
| 604776 |
Histokombapilita DR BETA-5 |
6p21.3 |
HLA-DRB5 |
hum.
|
| 604860 |
MALT lymfom |
11q21/18q21 |
AP12/MALT1 |
hum.
|
| 604882 |
Neurogenin 3 |
10q21.3 |
NGN3 |
hum.
|
| 604936 |
KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, 1; KIR2DL1 |
19q13.4 |
KIR2DL1 |
hum.
|
| 604937 |
KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, 2; KIR2DL2 |
Chr.19 |
KIR2DL2 |
hum.
|
| 604938 |
KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, 3; KIR2DL3,NK-ASSOCIATED TRANSCRIPT 2A |
19q13.4 |
3; KIR2DL3 |
hum.
|
| 604946 |
KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, THREE DOMAINS, 1; KIR3DL1 |
19q13.4 |
KIR3DL1 |
hum.
|
| 605305 |
KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, 5; KIR2DL5 |
Chr.19 |
KIR2DL5 |
hum.
|
| 605573 |
poruchy vývoje pohlaví - beta hydroxysteroidní dehydrogenasa III |
9q22 |
HSD17B3 |
hum.
|
| 605597 |
Blefarofimosa, ptosa |
3q23 |
FOXL2 |
hum.
|
| 605712 |
Hereditární senzitívní neuropatie |
9q22.1-22.3 |
SPTLC1-exon5 |
hum.
|
| 605839 |
Hereditární leiomyomatóza a karcinom ledviny, HLRCC |
1q42.1 |
FH |
hum.
|
| 606021 |
Preferenční antigen v melanomu, PRAME |
22q11.22 |
PRAME |
hum.
|
| 606157 |
Neurodegenerace s akumulací železa v mozku, NBIA1 |
20p13-p12.3 |
PANK2 |
hum.
|
| 606158 |
Dominantní hereditární motorická neuropatie, BSCL2 |
11q13 |
BSCL2 |
hum.
|
| 606176 |
Permanent Diabetes Mellitus of Infancy, PDMI |
11p15.1 |
KCNJ11 |
hum.
|
| 606392 |
Maturity-Onset Diabetes of the Young, type 4 |
13q12.1 |
IPF1 |
hum.
|
| 606394 |
Maturity-Onset Diabetes of the Young, type 6 |
2q32 |
NeuroD1 |
hum.
|
| 606598 |
Ganglioside-induced differentation-associated protein 1, GDAP1 |
8q13-q21.1 |
GDAP1 |
hum.
|
| 606636 |
NLR Family, Pyrin Domain-containing 1, NLRP1 |
17p13 |
A4600G, C4678C |
hum.
|
| 606785 |
Sy. Crigler-Najjar II |
2q37 |
UGT1A1 |
hum.
|
| 606812 |
Deficit fumaráthydratázy |
1q42.1 |
FH |
hum.
|
| 606989 |
MYELOPEROXIDASE |
17q23.1 |
MPO |
hum.
|
| 607008 |
Deficit acyl-CoA dehydrogenázy o středně dlouhém řetězci(MCAD) |
1p31 |
MCAD |
hum.
|
| 607086 |
Thorakální AORTICKE aneurysma |
TGFBR1 |
11p23.3-q24 |
hum.
|
| 607093 |
Homocystinurie z deficitu methylentetrahydrofolátreduktázy |
1p36.3 |
MTHFR |
hum.
|
| 607096 |
Renální hypourikémie |
11q13 |
SLC22A12 |
hum.
|
| 607102 |
WT1 GEN |
EWS/WT1/ |
11p13, 22q12 |
hum.
|
| 607155 |
Svalová dystrofie pletencová, typ 2I (LGMD2I, MDDGC5) |
19q13.3 |
FKRP |
hum.
|
| 607273 |
Birt-Hogg-Dubé syndrom |
17p11.2 |
BHD |
hum.
|
| 607537 |
Mukoepidermální karcinóm |
11q21/19p13 |
MAML2/MECT1 |
hum.
|
| 607625 |
Niemann-Pickova ch., typ C2 |
14q24.3 |
NPC2 |
hum.
|
| 607685 |
Onkogenéza (CEL) -FIP1L1-PDGFRA |
4q12 |
PDGFRA |
hum.
|
| 607686 |
Onkogenéza FIP1L1/PDGFRA (hypereosinofilní sy, HES) |
|
4q 12 |
hum.
|
| 607736 |
Charcot-Marie-Tooth choroba, typ1B, CMT1B, CMT2J |
1q22 |
MPZ |
hum.
|
| 607907 |
Dermatofibrosarcoma protuberans |
17q22/22q13 |
COLIA1/PDGFB |
hum.
|
| 608014 |
Dominantní hereditární motorická neuropatie |
12q24 |
HSP22 |
hum.
|
| 608099 |
Svalová dystrofie pletencová, typ 2D (LGMD2D) |
17q12-q21.33 |
SGCA |
hum.
|
| 608104 |
CDG syndrom typ Ih |
11pter-p15.5 |
ALG8 |
hum.
|
| 608160 |
Kampomelická dysplázie |
17y24.3-q25.1 |
SOX9 |
hum.
|
| 608232 |
Onkogenéza (CML,ALL,AML)-BCR/ABL |
22q11.21, t(9;22) |
BCR/ABL |
hum.
|
| 608456 |
Autozomálně recesivně dědičná střevní polypóza |
1p34.3-p32.1 |
MYH |
hum.
|
| 608547 |
Vitamín K epoxid reduktázový komplex, podjednotka 1 |
16p11.2 |
VKORC1 |
hum.
|
| 608769 |
Deficit pyruvátdehydrogenázy |
PDHX |
11p13 |
hum.
|
| 608931 |
Kongenitální myastenie s def.acetylcholinového receptoru |
17p13-p12 |
CHRNE |
hum.
|
| 609113 |
Délka telomér |
|
|
hum.
|
| 609260 |
Charcot-Marie-Tooth choroba, typ 2A2, CMT2A2 |
1p36.2 |
Mitofusin 2, MFN2 |
hum.
|
| 609283 |
Progresivní externí oftalmoplegie s delecemi v mtDNA, autozomálně dominantní typ 2 |
4q35 |
ANT1 |
hum.
|
| 609286 |
Progresivní externí oftalmoplegie s delecemi v mtDNA, autozomálně dominantní typ 3 |
10q24 |
C10ORF2 |
hum.
|
| 609310 |
Hereditární nepolyposní karc. tl. střeva |
3p21.3 |
MLH1 |
hum.
|
| 609532 |
Genotypizace HCV |
12q14, 3p21, 19q13.13, 1q31-q32 |
HCV |
nehum.
|
| 609708 |
Deficit lipoprotein, lipázy (HindIII, PvuII, N2291S) |
8p22 |
HindIII, PvuII, N291S |
hum.
|
| 610090 |
Pyridoxal fosfát-dependetní epilepsie NEE |
PNPO |
17q21.32 |
hum.
|
| 610380 |
Loeys-Dietz syndrome |
3p22 |
TGRBR1 |
hum.
|
| 610460 |
Tiopurinová S-Metyltransferáza |
6p22.3 |
TPMT |
hum.
|
| 610619 |
Koagulační faktor XII |
5q33-qter |
F12 |
hum.
|
| 610771 |
CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 5; |
1p36 |
CHD5 |
hum.
|
| 610951 |
Neuronální ceroid lipofuscinóza 7 (NCL7) |
4q28.1-q28.2 |
MFSD8 |
hum.
|
| 610966 |
Fat mass-and- obesity associated gene |
|
|
hum.
|
| 611731 |
Onkogenéza APC (kolorektální karcinom) |
5q21-q22 |
APC |
hum.
|
| 611938 |
Ventricular Tachycardia, Catecholaminergic Polymorphic 2 |
1p13.3-p11 |
CPVT2 |
hum.
|
| 612076 |
Renální hypourikémie |
4p16-p15.3 |
SLC2A9 |
hum.
|
| 612309 |
Koagulační faktor V |
1q23 |
F5 |
hum.
|
| 612724 |
Fruktozová intolerance |
9q22.3 |
ALDOB |
hum.
|
| 612735 |
Histokombapilita DR BETA-3 |
6p21.3 |
HLA-DRB3 |
hum.
|
| 612779 |
Dihydropyrimidinová dehydrogenáze - DPYD |
1p22 |
DPYD |
hum.
|
| 900001 |
Mycobacterium tuberculosis complex |
|
|
nehum.
|
| 900002 |
BK virus |
|
BKV |
nehum.
|
| 900003 |
lidský herpes virus-6 |
|
HHV-6 |
nehum.
|
| 900004 |
herpes simplex virus-1, 2 |
|
HSV-1,2 |
nehum.
|
| 900005 |
Pneumocystis carinii (jiroveci) |
|
|
nehum.
|
| 900006 |
Tropheryma whipplei |
None |
16S rRNA |
nehum.
|
| 900007 |
Treponema pallidum |
None |
gen tmpA |
nehum.
|
| 900008 |
Leishmania spp. |
None |
None |
nehum.
|
| 900009 |
Francisella tularensis |
None |
None |
nehum.
|
| 900010 |
cytomegalovirus |
|
CMV |
nehum.
|
| 900011 |
hepatitis C virus |
|
HCV |
nehum.
|
| 900012 |
hepatitis B virus |
|
HBV |
nehum.
|
| 900013 |
Aneuploidie chromozomů 13,18, 21, X a Y metodou QF PCR |
13, 18, 21, X a Y |
QF PCR |
hum.
|
| 900014 |
Aspergillus |
|
|
nehum.
|
| 900015 |
Neisseria gonorrhoeae |
|
|
nehum.
|
| 900016 |
lidské papillomaviry |
|
HPV |
nehum.
|
| 900017 |
Borrelia burgdorferi |
|
|
nehum.
|
| 900018 |
Chlamydia trachomatis |
|
CHT |
nehum.
|
| 900019 |
adenoviry A-F |
|
|
nehum.
|
| 900020 |
respirační viry |
|
|
nehum.
|
| 900021 |
Toxoplasma gondii |
|
|
nehum.
|
| 900022 |
parvovirus B19 |
|
PVB19 |
nehum.
|
| 900023 |
Epstein-Barr virus |
|
EBV |
nehum.
|
| 900024 |
Brucella abortus |
None |
None |
nehum.
|
| 900025 |
Bartonella henselae |
None |
None |
nehum.
|
| 900026 |
Kaposi sarcoma herpes virus HHV8 |
|
ORF-26 (fragment ks330) |
nehum.
|
| 900027 |
JC vírus |
|
Xg, 26 |
nehum.
|
| 900028 |
Varicella zoster virus |
|
VZV |
nehum.
|
| 900029 |
Mikrosatelitová instabilita - nádory GIT : kolorektální karcinom, ca žaludku atd. |
|
D2S123., D5S346, D17S250, BAT 25, BAT 26, BAT 40 |
nehum.
|
| 900030 |
Mycoplasma genitalium |
|
|
nehum.
|
| 900031 |
Enterovíry |
|
EV |
nehum.
|
| 900032 |
Yersinia enterocolitica |
ne |
ail. ystA |
nehum.
|
| 900033 |
Yersinia pseudotuberculosis |
none |
inv |
nehum.
|
| 900034 |
Průkaz hepatitidy B & C |
|
|
nehum.
|
| 900035 |
Virus hepatitidy A |
|
|
nehum.
|
| 900036 |
Virus hepatitidy E |
|
|
nehum.
|
| 900037 |
Preimplantační genetické vyšetření monogenních chorob metodou nepřímé vazební analýzy |
xxx |
xxx |
nehum.
|
| 900038 |
Onkogenéza ST18 |
8q11 |
ST18 |
nehum.
|
| 900039 |
Histokombapilita DR BETA-4 |
6p21.3 |
DRB4 |
nehum.
|
| 900040 |
Juvenilní diabetes způsobený mutací inzulínového genu |
11p15.5 |
INS |
nehum.
|
| 900041 |
Průkaz HIV |
|
|
nehum.
|
| 900042 |
Ureaplasma |
|
|
nehum.
|
| 900043 |
Mycoplasma hominis |
|
|
nehum.
|
| 900044 |
Lidský papilomavirus ( +typizace) |
|
|
nehum.
|
| 900045 |
Atypická mycobacteria - typizace |
|
|
nehum.
|
| 900046 |
Neisseria meningitidis |
|
|
nehum.
|
| 900047 |
Haemophillus influenzae |
|
|
nehum.
|
| 900048 |
Streptoccocus pneumoniae |
|
|
nehum.
|
| 900049 |
Streptococcus agalactiae |
|
|
nehum.
|
| 900050 |
Listeria monocytogenes |
|
|
nehum.
|
| 900051 |
Legionella pneumophila |
|
|
nehum.
|
| 900052 |
Bordetella pertussis |
|
|
nehum.
|
| 900053 |
Chlamydia pneumoniae |
|
|
nehum.
|
| 900054 |
Mycoplasma pneumoniae |
|
|
nehum.
|
| 900055 |
Borrelia sp. |
|
|
nehum.
|
| 900056 |
Bakteriální 16S rib. podj. + typizace |
|
|
nehum.
|
| 900057 |
Virus H1N1 |
|
|
nehum.
|
| 900058 |
Herpes-virus 8 lidský |
|
HHV 8 |
hum.
|
| 900059 |
Zygomety |
|
|
nehum.
|
| 900060 |
CMV rezistence k antivirotikům |
|
|
nehum.
|
| 900061 |
Clostridum difficile |
|
|
nehum.
|
| 900062 |
Virus chřipky A H1N1 |
|
|
nehum.
|
| 604061 |
Metylace septinu 9 |
17 |
SEPTIN9 |
hum.
|
| 900063 |
Preimplantační genetická diagnostika monogenních chorob přímou a nepřímou metodou |
1-22, X, Y |
|
hum.
|
| 900064 |
Preimplantační genetická diagnostika chromozomových abnormit pomocí arrayCGH |
1-22, X, Y |
|
hum.
|
