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Some disease related genes and polynucleotides

1. Blood and Coagulation Diseases and Disorders

Anemia(CDAN1,CDA1,RPS19,DBA,PKLR,PK1,NT5C3,UMPH1,PSN1,RHAG,RH50A,NRAMP2,SPTB,ALAS2,ANH1,ASB,ABCB7,ABC7,ASAT);

Bare lymphocyte syndrome (TAPBP,TPSN,TAP2,ABCB3,PSF2,RING11,MHC2TA,C2TA,RFX5,RFXAP,RFX5);

Fanconi anemia(FANCA,FACA,FA1,FA,FAA,FAAP95,FAA90,FLJ34064,FANCB,FANCC,FACC,BRCA2,FANCD1,

FANCD2,FANCD,FACD,FAD,FANCE,FACE,FANCF,XRCC9,FANCG,BRIP1,BACH1,FANCJ,PHF9,FANCL,FANCM,KIAA1596);

Bleeding disorder(TBXA2R,P2RX1,P2X1); Factor H and factor H like 1(HF1,CFH,HUS); Factor V and factor VIII(MCFD2); Factor VII deficiency(F7); Factor X deficiency(F10); Factor XI deficiency(F11); Factor XII deficiency(F12,HAF); Factor XIIIA deficiency(F13A1,F13A); Factor XIIIB deficiency(F13B); Hemophagocytic lymphohistiocytosis(PRF1,HPLH2,UNC13D,MUNC13-4,HPLH3,HLH3,FHL3); Hemophilia A(F8,F8C,HEMA); Hemophilia B(F9,HEMB); Hemorrhagic disorder(PI,ATT,F5); Leukocyte deficiency and disorder(ITGB2,CD18,LCAMB,LAD,EIF2B1,EIF2BA,EIF2B2,EIF2B3,EIF2B5,LVWM,CACH,CLE,EIF2B4); Sickle cell anemia(HBB); Thalassemia(HBA2,HBB,HBD,LCRB,HBA1)

2. Abnormal cell regulation and tumor diseases and disorders

B-cell non Hodgkin's lymphoma(BCL7A,BCL7);

Leukemia(TAL1,TCL5,SCL,TAL2,FLT3,NBS1,NBS,ZNFN1A1,IK1,LYF1,HOXD4,HOX4B,BCR,CML,PHL,

ALL,ARNT,KRAS2,RASK2,GMPS,AF10,ARHGEF12,LARG,KIAA0382,CALM,CLTH,CEBPA,CEBP,CHIC2,

BTL,FLT3,KIT,PBT,LPP,NPM1,NUP214,D9S46E,CAN,CAIN,RUNX1,CBFA2,AML1,WHSCIL1,NSD3,FLT3,

AF1Q,NPM1,NUMA1,ZNF145,PLZF,PML,MYL,STAT5B,AF10,CALM,CLTH,ARL11,ARLTS1,P2RX7,P2X7,

BCR,CML,PHL,ALL,GRAF,NF1,VRNF,WSS,NFNS,PTPN11,PTP2C,SHP2,NS1,BCL2,CCND1,PRAD1,

BCL1,TCRA,GATA1,GF1,ERYF1,NFE1,ABL1,NQO1,DIA4,NMOR1,NUP214,D9S46E,CAN,CAIN)

3. Inflammatory and immune related diseases and disorders

AIDS(KIR3DL1,NKAT3,NKB1,AMB11,KIR3DS1,IFNG,CXCL12,SDF1); Autoimmune lymphoproliferative syndrome(TNFRSF6,APT1,FAS,CD95,ALPS1A); Combined immunodeficiency disease(IL2RG,SCIDX1,SCIDX,IMD4); HIV-1(CCL5,SCYA5,D17S136E,TCP228); HIV susceptibility or infection(IL10,CSIF,CMKBR2,CCR2,CMKBR5,CCCKR5(CCR5));

immunodeficiency(CD3E,CD3G,AICDA,AID,HIGM2,TNFRSF5,CD40,UNG,DGU,HIGM4,TNFSF5,CD40LG,

HIGM1,IGM,FOXP3,IPEX,AIID,XPID,PIDX,TNFRSF14B,TACI);

inflammation(IL-10,IL-1(IL-1a,IL-1b),IL-13,IL-17(IL-17a(CTLA8),IL-17b,IL-17c,IL-17d,IL-17f),II-23,Cx3crl,

ptpn22,TNFa,IBD’s NOD2/CARD15,IL-6,IL-12(IL-12a,IL-12b),CTLA4,Cx3cll);

severe combined immunodeficiency(SCID)(JAK3,JAKL,DCLRE1C,ARTEMIS,SCIDA,RAG1,RAG2,ADA,PTPRC,CD45,

LCA,IL7R,CD3D,T3D,IL2RG,SCIDX1,SCIDX,IMD4)

4. Metabolic, liver, kidney and protein diseases and disorders

Amyloid Neuropathy(TTR,PALB); Amyloidosis(APOA1,APP,AAA,CVAP,AD1,GSN,FGA,LYZ,TTR,PALB); cirrhosis(KRT18,KRT8,CIRH1A,NAIC,TEX292,KIAA1988); Cystic fibrosis(CFTR,ABCC7,CF,MRP7);

Glycogen storage disease(SLC2A2,GLUT2,G6PC,G6PT,G6P1,GAA,LAMP2,LAMPB,AGL,GDE,GBE1,GYS2,PYGL,PFKM);

Hepatic adenoma ,142330(TCF1,HNF1A,MODY3); hepatic failure, Early onset and neurological disorders (SCOD1,SCO1);Hepatic esterase deficiency(LIPC); Phenylketonuria(PAH,PKU1,QDPR,DHPR,PTS);

Hepatoblastoma,cancer and carcinomas(CTNNB1,PDGFRL,PDGRL,PRLTS,AXIN1,AXIN,CTNNB1,TP53,P53,LFS1,IGR2R,MPR1,MET,CASP8,MCH5;

Medullary Cystic Disease(UMOD,HNFJ,FJHN,MCKD2,ADMCKD2);

Polycystic kidney and liver disease(FCYT,PKHD1,ARPKD,PKD1,PKD2,PKD4,PKDTS,PRKCSH,G19P1,PCLD,SEC63).

5. Musculoskeletal disorders and disorders

Baker muscular dystrophy(DMD,BMD,MYF6), Duchene muscular dystrophy) (DMD,BMD);

Emery-Dreifuss muscular dystrophy(LMNA,LMN1,EMD2,FPLD,CMD1A,HGPS,LGMD1B,LMNA,LMN1,EMD2,FPLD,CMD1A);

muscular dystrophy(FKRP,MDC1C,LGMD2B,SGCG,LGMD2C,DMDA1,SCG3,SGCA,ADL,DAG2,LGMD2D,DMDA2,SGCB,

LGMD2E,SGCD,SGD,LGMD2F,CMD1L,TCAP,LGMD2G,CMD1N,TRIM32,HT2A,LGMD2H,FKRP,MDC1C,LGMD2I,

TTN,CMD1G,TMD,LGMD2J,POMT1,CAV3,LGMD1C,SEPN1,SELN,RSMD1,PLEC1,PLTN,EBS1); Osteosclerosis(LRP5,BMND1,LRP7,LR3,OPPG,VBCH2,CLCN7,CLC7,OPTA2,OSTM1,GL,TCIRG1,TIRC7,OC116,OPTB1); Amyotrophy(VAPB,VAPC,ALS8,SMN1,SMA1,SMA2,SMA3,SMA4,BSCL2,SPG17,GARS,SMAD1,CMT2D,HEXB,IGHMBP2,SMUBP2,CATF1,SMARD1)

6. Nerve and neuronal diseases and disorders

ALS(SOD1,ALS2,STEX,FUS,TARDBP,VEGF(VEGF-a,VEGF-b,VEGF-c);

Alzheimer's disease(APP,AAA,CVAP,AD1,APOE,AD2,PSEN2,AD4,STM2,APBB2,FE65L1,NOS3,PLAU,URK,ACE,DCP1,ACE1,MPO,

PACIP1,PAXIP1L,PTIP,A2M,BLMH,BMH,PSEN1,AD3, E1,CHIP, UCH,UBB,Tau,LRP,PICALM,

Clusterin,PS1,SORL1,CR1,Vldl,Uba1,Uba3,CHIP28(Aqp1, Aquaporin 1),Uchl1, Uchl3);

autism(Mecp2,BZRAP1,MDGA2,Sema5A,Axin protein 1,GLO1,MECP2,RTT,PPMX,MRX16,MRX79,NLGN3,NLGN4,KIAA1260,AUTSX2);

Fragile X Syndrome(FMR2,FXR1,FXR2,Mglur5); Huntington's disease and disease-like disorders(HD,IT15,PRNP,PRIP,JPH3,JP3,HDL2,TBP,SCA17);

Parkinson's Disease(NR4A2,NURR1,NOT,TINUR,SNCAIP,TBP,SCA17,SNCA,NACP,PARK1,PARK4,DJ1,PARK7,LRRK2,PARK8,

PINK1,PARK6,UCHL1,PARK5,SNCA,NACP,PARK1,PARK4,PRKN,PARK2,PDJ,DBH,NDUFV2);

Rett syndrome(MECP2,RTT,PPMX,MRX16,MRX79,CDKL5,STK9,MECP2,RTT,PPMX,MRX16,MRX79, X-synuclein,DJ-1); schizophrenia(Nrg1,Erb4,Cplx1,Tph1,Tph2,axonin1,GSK3,GSK3a,GSK3b,5-HTT(Slc6a4),COMT,DRD(Drd1a),SLC6A3,DAOA,DTNBP1,Dao(Dao1));

secretion-related protein(APH-1(αandβ), Presenilin(Psen1),Nicastrin(Ncstn),PEN-2,Nos1,Parp1,Nat1,Nat2);

Trinucleotide duplication disorder(HTT (Huntingtons Dx),SBMA/SMAX1/AR(Kennedy's Dx),FXN/X25(Friedrich Ataxia),

ATX3(Machado-Joseph Dx),ATXN1 and ATXN2(Spinocerebellar ataxia),DMPK(Compulsory muscular dystrophy),

Atrophin-1 and Atn1(DRPLA Dx),CBP(Creb-BP-global instability),VLDLR(Alzheimer's disease),Atxn7,Atxn10)

7. Eye Diseases and Disorders

Age-related macular degeneration (AMD)(Abcr,Ccl2,Cc2,cp(Ceruloplasmin),Timp3,Cathepsin D,Vldlr,Ccr2);

Cataract(CRYAA,CRYA1,CRYBB2,CRYB2,PITX3,BFSP2,CP49,CP47,CRYAA,CRYA1,PAX6,AN2,MGDA,CRYBA1,CRYB1,

CRYGC,CRYG3,CCL,LIM2,MP19,CRYGD,CRYG4,HSF4,CTM,HSF4,CTM,MIP,AQP0,CRYAB,CRYA2,CTPP2,CRYBB1,

CRYGD,CRYG4,CRYBB2,CRYB2,CRYA1,GJA8,CX50,CAE1,GJA3,CX46,CZP3,CAE3,CCM1,CAM,KRIT1);

Corneal opacity and dystrophy(APOA1,TGFBI,CSD2,CDGG1,CSD,BIGH3,CDG2,TACSTD2,TROP2,M1S1,VSX1,RINX,PPCD,

PPD,KTCN,COL8A2,FECD,PPCD2,PIP5K3,CFD);

glaucoma(MYOC,TIGR,GLC1A,JOAG,GPOA,OPTN,GLC1E,FIP2,HYPL,NRP,CYP1B1,GLC3A,OPA1,NTG,NPG,CYP1B1,GLC3A);

Leber congenital amaurosis(CRB1,RP12,CRX,CORD2,CRD,RPGRIP1,LCA6,CORD9,RPE65,RP20,AIPL1,LCA4,GUCY2D,GUC2D,LCA1,CORD6,RDH12,LCA3);

macular dystrophy( ELOVL4,ADMD,STGD2,STGD3,RDS,RP7,PRPH2,PRPH,AVMD,AOFMD,VMD2)

Cornea plana congenital(KERA,CNA2);

8. Tumor/Cancer

PTEN; ATM; ATR; EGFR; ERBB2; ERBB3; ERBB4; Notch1; Notch2; Notch3; Notch4; AKT; AKT2; AKT3; HIF; HIF1a; HIF3a; Met; HRG; Bcl2; PPARα;PPARγ; WT1; FGF Receptor family members (1,2,3,4,5); CDKN2a; APC; RB(Retinoblastoma); MEN1; VHL; BRCA1; BRCA2; AR(Androgen receptor); TSG101; IGF; IGF receptor; Igf1(4 variants); Igf2(3variants); Igf1 receptor; Igf2 receptor; Bax; Bcl2; Caspases (9 members:1,2,3,4,6,7,8,9,12); Kras; Apc

9. Prion related disorders

Prp

10. Drug addiction

Prkce(alcohol); Drd2; Drd4; ABAT(alcohol); GRIA2; Grm5; Grin1; Htrlb; Grin2a; Drd3; Pdyn; Grial(alcohol)