| Болезнь |
Число генов |
Гены |
Кол-во мутаций |
| Алкоголизм |
29 |
ANKFN1, ANKFN1/PCTP, BIN1/CYP27C1, C18orf2/METTL4, CHRNB4, CHST11, DRD2, EFHA2, FAF1, FLJ46358/SPATA13, LOC100131552/HAS2AS, LOC344593/CBLB, LOC644456/LOC730134, LOC729601/LYZL1, NT5C2, OPA3, OXTR, PCNX, PCTP/ANKFN1, PECR/LOC100288812, PIM3/CRELD2, POU3F4/CYLC1, RAB7L1/SLC41A1, SGCG, SGCG/LOC646201, SLC6A3, STK24, STX18/LOC100289434, UCHL5 |
37 |
| Анкилозирующий спондилоартрит |
8 |
CLSTN3, ERAP1, EXOC3L, HLA-B/MICA, IL23R, IL23R/IL12RB2, LNPEP, LOC100289305/PSMG1 |
21 |
| Артериальная гипертензия |
13 |
ADD1, ADD2, AGTR1, BCAT1, CALCA/LOC440031, CLCN6, CLCN6/NPPA, EDNRA, LOC339535/CHRM3, LOC730236/KLHL1, MYBPC1, WNK1, WSCD2 |
13 |
| Астма |
9 |
GSDMB, HLA-DQB1/HLA-DQA2, MS4A2, NPPA, PTGS2/PLA2G4A, SPINK5, TBKBP1/TBX21, TBX21, TNF |
16 |
| Атопический дерматит |
4 |
ADAM33, C11orf30/LRRC32, IL18R1, SPINK5 |
4 |
| Базедова болезнь |
6 |
FCRL3/FCRL2, IL23R, IL2RA, PTPN22, TNF, TSHR |
20 |
| Биполярное расстройство |
22 |
BCR, C15orf32, CACNA1C, CDC2/ANK3, CENPB/CDC25B, CHD9/TOX3, CMTM8, DISC1, DPP10, DUSP26/UNC5D, FKBP5, LAMP3, LOC401777/C14orf37, LOC644265/LOC100287010, LOC729992/LPIN1, ODZ4, PALB2, RNPEPL1, TBC1D15/TPH2, TBCC/FLJ38717, TDRD9, TPH2 |
27 |
| Близорукость |
4 |
LUM, PPP2R4, TGFB1, UMODL1 |
6 |
| Боковой амиотрофический склероз |
5 |
C9orf72/LOC100288294, DPP6, LIPC, LOC100288294/C9orf72, LOC729467/FGGY |
7 |
| Болезнь Альцгеймера |
43 |
A2M, ABCA7, APOC1, ATP8B4/SLC27A2, BACE1/CEP164, BCHE, C10orf35/COL13A1, C10orf40/ANK3, C3orf17/BOC, CALHM1, CLU, CR1, DKK1/MBL2, DNMBP, DNMBP/ABCC2, EED/LOC100130431, EIF2AK2, ENTPD7, FAM49A/RAD51AP2, FGG/LRAT, GAB2, GAB2/LOC729944, GOLM1, LDLR, LOC100288436/ACO1, LRP6, MPO, MS4A4E/MS4A4A, MS4A6A, PCDH11X, POLN, RIMBP2/STX2, RNF6/SHISA2, RPGR/OTC, SERPINA3, SLC2A9/WDR1, SLC4A1AP, SMARCA2/DMRT2, SMC2/CYLC2, SORL1, TNF/LTA, TNRC6C/FLJ45079, TOMM40 |
59 |
| Болезнь Альцгеймера с поздним началом |
10 |
CLU, CR1, CYP27C1/BIN1, EDAR/LOC100287216, EED/LOC100130431, EPHA1/TAS2R60, MS4A4E/MS4A4A, MTHFD1L, PVRL2, SIGLECP3/CD33 |
15 |
| Болезнь Крона |
31 |
ATG16L1, BSN, C10orf67/OTUD1, C11orf30/LRRC32, C13orf31, CDKAL1, DAB2/LOC100127944, DEFB1, FGFR1OP/CCR6, GCKR, HLA-DQB1/HLA-DQA2, IL23R, INPP5D/ATG16L1, IRGM/ZNF300, KLF6/LOC100130652, LOC285627/IL12B, LOC392145/C7orf33, NELL1, NOD2, OLIG3/TNFAIP3, PHOX2B/TMEM33, PREP/PRDM1, PTPN22, RSPH6A, SLC22A4, SLC22A5/C5orf56, STAT3, TNFSF18/FASLG, ZNF300/IRGM, ZNF365/ADO |
67 |
| Болезнь Паркинсона |
33 |
ADH1C, BST1/CD38, C17orf69, CCDC62, CD38/BST1, CYP17A1, DDHD1/BMP4, FAM47E, GAK, GALNT3, IMP5, IPMK/ZWINT, ITGA8, LRRK2, MAPT/STH, MCCC1/LAMP3, MGC57346, MMRN1/LOC644248, NRIP1/USP25, NSF, NUCKS1, PCDH18/SLC7A11, POLR3B/RFX4, PRDM2, RAB25/ROBLD3, SLC41A1, SLC7A11/PCDH18, SNCA, SNCA/GPRIN3, STK39/LASS6, TASP1/ISM1, TMEM175, WDR69/SPHKAP |
37 |
| Гиперхолестеринемия |
1 |
LOC100288058/INSIG2 |
1 |
| Глаукома |
3 |
CDKN2BAS, LOC100287616, LOXL1/LOC100287616 |
9 |
| Грыжа межпозвоночного диска |
4 |
CILP, COL11A1, IL1A, THBS2 |
5 |
| Депрессия |
5 |
FKBP5, LOC100288030, RAB36/BCR, SLC6A15/TMTC2, TMTC2/SLC6A15 |
8 |
| Диабетическая нефропатия |
2 |
TLR4, UNC13B |
3 |
| Инсульт |
6 |
IWS1/PROC, LOC100132369/NINJ2, LOC653198, NINJ2/LOC100132369, SERPINI1, SRD5A3/KDR |
6 |
| Инфаркт миокарда |
20 |
ADRB2, BSND/PCSK9, CDKN2B-AS1, CDKN2BAS, CDKN2BAS/LOC729983, CELSR2/PSRC1, HNRNPA3P1/LOC100130539, HNRNPUL1, MIA3, MIAT, PSRC1/CELSR2, ROS1, SMAD3, TAS2R50, TAS2R50/TAS2R20, THBS2, TLR4, TNF, VAMP8, ZNF335/MMP9 |
36 |
| Ишемическая болезнь сердца |
27 |
ABO, ADAMTS7, ALDH2, BSND/PCSK9, BUD13/ZNF259, C21orf82/KCNE2, CDH13, CDKN2B-AS1, CDKN2BAS, CDKN2BAS/LOC729983, HSPA1A, KIAA1486/IRS1, LOC100288795, LPL/SLC18A1, MIA3, MRAS, MTHFD1L, NOS3, NPPA, OR6X1/ZNF202, PALLD, PHACTR1, POP4/VSTM2B, ROPN1/KALRN, SEZ6L, SNX19, WDR12 |
45 |
| Кластерные головные боли |
1 |
HCRTR2 |
1 |
| Меланома |
8 |
ATM, BRCA2, CDK10, CLPTM1L, IL6R, MTAP, TYR, TYRP1/PTPRD |
27 |
| Менингиома |
4 |
BRIP1, C10orf114, DHX15/SOD3, MLLT10 |
4 |
| Миастения |
2 |
CD28/CTLA4, CTSL2/LOC340508 |
2 |
| Нейробластома |
4 |
BARD1, CASC15, FLJ22536, LINC00340 |
5 |
| Неходжкинская лимфома |
5 |
CASP8, CASP9, KLF3/TLR10, TLR1/TLR6, TNF |
8 |
| Никотиновая зависимость |
5 |
CHRNA5, CHRNB3, LOC102724740, NRXN1, VPS13A |
7 |
| Ожирение |
10 |
APOA2/TOMM40L, APOA4/APOA5, CTNNBL1, FAM71F1, FTO, KLF7/CREB1, MC4R, SCG3/DMXL2, SLC6A14, TFAP2B |
17 |
| Остеопороз и сопутствующие заболевания |
13 |
C11orf49, C6orf97, CYP19A1, LRP4, LRP5, NOTCH4/C6orf10, QPCT, SPTBN1, TNFRSF11A/ZCCHC2, TNFRSF11B/COLEC10, WNT4/ZBTB40, ZBTB40/WNT4, ZCCHC2/TNFRSF11A |
21 |
| Пародонтоз |
3 |
CDKN2BAS/LOC729983, DEFB1, IL1RN |
8 |
| Почечная недостаточность |
2 |
EYA1, MTHFS |
2 |
| Псориаз |
12 |
COG6, HCP5, HLA-C/HLA-B, IL12B, IL13, IL23R, LCE3E/LCE3D, LOC285627/IL12B, PSORS1C3/POU5F1, STAT2, TNF, TNFAIP3 |
23 |
| Рак желудка |
6 |
IL17A/PKHD1, LOC100132330/LOC100287688, LTA, MPO, MTHFR, RUNX3 |
36 |
| Рак легких |
17 |
ABCB1, ABCC1, ATM, AURKA, CHRNA5, CHRNB4, CLPTM1L, EGFR, IL1RAP, IREB2, LOC123688, MBD4, MGMT, MMP9, MPO, MTHFR, VDR |
74 |
| Рак молочной железы |
36 |
ADIPOQ, ATM, AURKA, BRCA1, BRCA2, CASP8, CCND1, CCNE1, CDKN1A, CDKN1B, CDKN2A, CDKN2B/CDKN2BAS, CENPF, ESR2, FAM84B/POU5F1B, FANCA, FGFR2, GALK1, GPX4, HMMR, HS3ST1/HSP90AB2P, LOC100132330/LOC100287688, LOC100288810/CYP19A1, LSP1, LUM, MAP3K1/LOC100289077, MYH7B, NQO2, P53, PCNXL3/SIPA1, RNASEL, TNF, TOX3/CHD9, WRAP53, XRCC1, XRCC2 |
77 |
| Рак молочной железы (лечение доцетакселом) |
2 |
DNMBP/ABCC2, SLCO1B3 |
3 |
| Рак поджелудочной железы |
7 |
ABO, ATM, ATR, CLPTM1L, KLF5/LOC647281, MTRR, NR5A2 |
22 |
| Рак полости рта и горла |
3 |
ADH1B, ADH7, XRCC5 |
3 |
| Рак простаты |
30 |
AGAP7/MSMB, C1orf21/TSEN15, CDH3/CDH1, CDRT15P/HS3ST3A1, CLPTM1L, CPA4, CTBP2, CYP3A4, DAB2IP, ESR2, FGFR4, HNF1B, HNF1B/LOC284100, ITGA2, KITLG, LOC100288457, LOC124685/LOC100133226, LOC727677, LOC727677/MYC, LOC729852, MYC/LOC727677, POU5F1B/FAM84B, POU5F1B/LOC727677, PTGS2/PLA2G4A, RNASEL, TCF7L2, TNRC6B, TPCN2/MYEOV, VDR, ZBTB38 |
51 |
| Рак толстого кишечника |
20 |
AURKA, CDH1, CHFR, DUSP23/CRP, GATA3/SFTA1P, IRS1, KLRK1, LEP, LOC120376, MLH1/EPM2AIP1, MUTYH, POU5F1B/FAM84B, RHPN2, SCG5/GREM1, SMAD7, TCF7L2, TGFB1, TPD52L3/UHRF2, TRPS1/EIF3H, XRCC5 |
30 |
| Рак яичка |
4 |
BAK1, KITLG, NDFIP1/SPRY4, STK11IP/INHA |
7 |
| Рак яичников |
17 |
BNC2/CNTLN, CYP19A1/LOC100288810, CYP3A4, DNMT3A, ESR2, HNF1B, HOXD1/HOXD3, INO80C/GALNT1, LOC100287906/PVT1, P2RY5/RB1, PGR, PMS2, PON1, SHMT1, SKAP1, TIPARP, XRCC2 |
20 |
| Рассеянный склероз |
20 |
ACCN1, ALK, CD58, DBC1, EVI5, FAM69A, HLA-DRB5/HLA-DRA, IL2RA, IL7R, KIF1B, KLRB1, LOC100287432/LOC144776, LOC100287963/CLEC16A, LOC100289398, LOC344593/CBLB, LOC645586/KANK1, NCRNA00171/HCG9, PDE4B, PTPN22, RPL5 |
31 |
| Ревматоидный артрит |
26 |
ANAPC4, BTNL2, C6orf10, CCL21/C9orf144B, CD244, CD40, CRYL1/GJB6, FCRL3/FCRL2, HLA-DQA1/HLA-DRB1, IL2RA, IL2RB/UNKNOWN, IRF5, LOC647030/PLXNA4, LOC729817/ELTD1, MMEL1, OLIG3/TNFAIP3, PADI4, PHF19/TRAF1, PTPN22, RSBN1/LOC100289390, SH2B3, STAT4, TNFAIP3/OLIG3, TRAF1, TRAF1/C5 |
57 |
| Сахарный диабет 1-го типа |
49 |
ADAD1, C12orf30, C14orf177/C14orf64, C1QTNF6, C6orf173/LOC728666, C6orf208/LOC154449, CCR3/CCR2, CD69, CFTR, CLEC16A, COBL/GRB10, COX7C/RASA1, CTRB1/CTRB2, CTSH, ENAH, ERBB3, FIGNL1/IKZF1, GLIS3/LOC100287493, GSDMB, HLA-DQA1/HLA-DRB1, HLA-DRA, IFIH1, IL10/MAPKAPK2, IL27/NUPR1, IL2RA, IL7R, INS-IGF2/INS, ITPR3, LIF/HORMAD2, LMO7, LOC150577, LOC389203/RBPJ, LOC399715/DKFZp667F0711, MEG3, PTEN/RNLS, PTPN2, PTPN22, RASGRP1/C15orf53, RBM17/IL2RA, RPS26/ERBB3, RSBN1/LOC100289390, SIRPG, SKAP2, SMARCE1/CCR7, STAT4, SUOX/IKZF4, UBAC2/TM9SF2, UBASH3A, ZFP36L1 |
208 |
| Сахарный диабет 2-го типа |
53 |
ADRB2/SH3TC2, AHSG/LOC100287402, AKR1B1/AKR1B10, ARAP1, BCHE/LOC131055, C3orf65/IGF2BP2, C4orf32/LOC729065, CCDC33, CDC123/CAMK1D, CDKAL1, CDKN2BAS/LOC729983, EXT2, FAM58A/DUSP9, FTO, HHEX, HHEX/EXOC6, HIGD1C, HNF1B, IGF2BP2/C3orf65, IL6, JAZF1/LOC100128081, KCNQ1/KCNQ1OT1, KIAA1486/IRS1, KLF14/FLJ43663, LOC728723, LRRC4C/LOC399881, MAGI1/ADAMTS9, MTTP, NOTCH2, OASL, PCK1, PDE4B, PKN2/LMO4, PPARG, PRC1, PROX1/RPS6KC1, RBMS1, RPSAP52/HMGA2, SERPINA12, SGK1/SLC2A12, SLC30A8, SPPL3/C12orf27, SREBF1, TCF7L2, TLE4/PSAT1, TMEM155/ANXA5, TP53INP1, TSPAN8/LGR5, WFS1, WFS1/LOC100129623, WNT5B, ZFAND6/FAH, ZNF239/LOC100129906 |
76 |
| Синдром беспокойных ног |
4 |
BTBD9, MAP2K5, MEIS1, PTPRD |
11 |
| Системная красная волчанка |
13 |
BANK1, C3, FAM167A/BLK, HLA-DQA1, IRF5, ITGAM, ITGAX, LILRA2, MECP2, SKIV2L, STAT4, TNF, TNF/LTA |
23 |
| Фибрилляция предсердий |
6 |
C4orf32/LOC729065, GJA5, GJA5/GJA8, KCNN3, LOC729065/PITX2, ZFHX3 |
7 |
| Целиакия |
9 |
CCR2/CCR3, HLA-DQA1, IL12A/SCHIP1, IL18R1, IL21/IL2, LPP, PTPN22, RGS21/RGS1, TAGAP |
10 |
| Шизофрения |
34 |
ACSM1, AFF2/FMR1NB, AGBL1, BRP44, C1orf187/AGTRAP, CCDC39/FXR1, CNNM2, COMT, CRLF2/IL3RA, CSF2RA, CSMD1, DISC1, DRD2, EI24/STT3A, FKSG83/PRSS16, FLJ35409/DPYD, IL18RAP, KCNA4/METT5D1, LNX2/MTIF3, LOC100129878/DYM, LOC729993, LSM1, MMP16/RIPK2, NOTCH4, PAH, PCGEM1/LOC645314, PRSS16/HIST1H2AH, PTBP2/LOC100286918, RELN, SLC18A1, SPA17/NRGN, TCF4, TCF4/CCDC68, ZNF804A |
47 |
