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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   neuropathy, peripheral
  

Disease ID 1458
Disease neuropathy, peripheral
Definition
Diseases of the peripheral nerves external to the brain and spinal cord, which includes diseases of the nerve roots, ganglia, plexi, autonomic nerves, sensory nerves, and motor nerves.
Synonym
disorder of peripheral nervous system
disorder of the peripheral nervous system
disorder of the peripheral nervous system (disorder)
disorder of the peripheral nervous system, nos
disorders of the peripheral nervous system
nerve disease, peripheral
nerve diseases, peripheral
nerves, peripheral--diseases
neuropathy peripheral
peripheral nerve damage
peripheral nerve dis
peripheral nerve disease
peripheral nerve disease (disorder)
peripheral nerve diseases
peripheral nerve disorder
peripheral nerve disorder, nos
peripheral nerve disorders
peripheral nervous system dis
peripheral nervous system disease
peripheral nervous system diseases
peripheral nervous system diseases [disease/finding]
peripheral nervous system disorder
peripheral nervous system disorder nos
peripheral nervous system disorder nos (disorder)
peripheral nervous system disorders
peripheral nervous system disorders (disorder)
peripheral neuropathies
peripheral neuropathy
peripheral neuropathy, nos
pn - peripheral neuropathy
pns (peripheral nervous system) diseases
pns dis
pns disease
pns diseases
pns disorder
pns peripheral nervous system dis
DOID
UMLS
C0031117
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:133)
C0011847  |  diabetes  |  68
C0011849  |  diabetes mellitus  |  33
C0011860  |  type 2 diabetes  |  30
C0026764  |  multiple myeloma  |  12
C0011860  |  type 2 diabetes mellitus  |  10
C0024141  |  systemic lupus erythematosus  |  7
C0009402  |  colorectal cancer  |  7
C0007113  |  rectal cancer  |  7
C0011854  |  type 1 diabetes  |  6
C0409974  |  lupus erythematosus  |  5
C0035309  |  retinopathy  |  5
C0003873  |  rheumatoid arthritis  |  4
C1527336  |  sjogren syndrome  |  4
C0030567  |  parkinson's disease  |  4
C0003864  |  arthritis  |  4
C0026764  |  myeloma  |  4
C0442874  |  neuropathy  |  4
C0007286  |  carpal tunnel syndrome  |  3
C0042870  |  vitamin d deficiency  |  3
C0006142  |  breast cancer  |  3
C0004134  |  ataxia  |  3
C0007758  |  cerebellar ataxia  |  3
C0042870  |  vitamin d defic  |  3
C0022408  |  arthropathy  |  3
C0020538  |  hypertension  |  2
C0037773  |  hereditary spastic paraplegia  |  2
C0024117  |  chronic obstructive pulmonary disease  |  2
C0004096  |  asthma  |  2
C0242350  |  erectile dysfunction  |  2
C0948265  |  metabolic syndrome  |  2
C0002986  |  fabry disease  |  2
C0009806  |  constipation  |  2
C0159069  |  impaired glucose tolerance  |  2
C0003892  |  charcot arthropathy  |  2
C1136085  |  monoclonal gammopathy  |  2
C0022658  |  nephropathy  |  2
C0021053  |  immune disease  |  2
C0028754  |  obesity  |  2
C0023449  |  acute lymphoblastic leukemia  |  2
C0751651  |  mitochondrial disease  |  2
C1527336  |  sjogren's syndrome  |  2
C0027697  |  nephritis  |  2
C0042384  |  vasculitis  |  2
C0271650  |  prediabetes  |  2
C0021053  |  immune disorder  |  2
C0085404  |  poems syndrome  |  2
C0007959  |  charcot-marie-tooth disease  |  2
C0023448  |  lymphoblastic leukemia  |  2
C0020443  |  hypercholesterolemia  |  1
C0024198  |  lyme borreliosis  |  1
C0022408  |  joint disease  |  1
C0027947  |  neutropenia  |  1
C0162429  |  malnutrition  |  1
C0751651  |  mitochondrial disorders  |  1
C0030481  |  tropical spastic paraparesis  |  1
C0085113  |  neurofibromatosis  |  1
C0011854  |  insulin-dependent diabetes  |  1
C0003125  |  anorexia nervosa  |  1
C0751651  |  mitochondrial disorder  |  1
C0024586  |  serotonin syndrome  |  1
C0013473  |  eating disorders  |  1
C0023418  |  leukemia  |  1
C0035258  |  restless legs syndrome  |  1
C0030486  |  paraplegia  |  1
C0041296  |  tuberculosis  |  1
C0036920  |  sezary syndrome  |  1
C0027830  |  neurofibromas  |  1
C0035258  |  restless legs  |  1
C0009782  |  connective tissue disease  |  1
C0002871  |  anemia  |  1
C0019202  |  wilson disease  |  1
C0031542  |  phlebitis  |  1
C0035435  |  rheumatic disease  |  1
C0600260  |  obstructive pulmonary disease  |  1
C0033953  |  sexual dysfunction  |  1
C0029124  |  optic atrophy  |  1
C0010674  |  cystic fibrosis  |  1
C0152965  |  staphylococcal septicaemia  |  1
C0023890  |  cirrhosis of liver  |  1
C0002871  |  anaemia  |  1
C0004153  |  atherosclerosis  |  1
C0751416  |  pelvic cancer  |  1
C0011570  |  depression  |  1
C0011860  |  diabetes mellitus type 2  |  1
C0011854  |  insulin dependent diabetes  |  1
C0035528  |  riboflavin deficiency  |  1
C0006112  |  metabolic encephalopathy  |  1
C0013473  |  eating disorder  |  1
C0002726  |  amyloidosis  |  1
C0031039  |  pericardial effusion  |  1
C0023903  |  liver tumor  |  1
C0023452  |  pediatric acute lymphoblastic leukemia  |  1
C0007102  |  colon cancer  |  1
C0034150  |  purpura  |  1
C0024115  |  pulmonary disease  |  1
C0040188  |  tic disorders  |  1
C0271742  |  allgrove syndrome  |  1
C0023890  |  cirrhosis  |  1
C0018378  |  guillain-barre syndrome  |  1
C0011860  |  type ii diabetes  |  1
C0042373  |  vascular disease  |  1
C0024143  |  lupus nephritis  |  1
C0035258  |  restless legs syndrome (rls)  |  1
C0282193  |  iron overload  |  1
C0752120  |  spinocerebellar ataxia type 1  |  1
C0029089  |  ophthalmoplegia  |  1
C0029408  |  degenerative joint disease  |  1
C0154733  |  multiple cranial nerve palsy  |  1
C0017921  |  pompe disease  |  1
C0018784  |  sensorineural deafness  |  1
C0010346  |  crohn's disease  |  1
C0010403  |  cryoglobulinemia  |  1
C0009782  |  connective tissue diseases  |  1
C0027873  |  neuromyelitis optica  |  1
C0410528  |  skeletal dysplasia  |  1
C0155550  |  neural deafness  |  1
C0023788  |  whipples disease  |  1
C0878544  |  cardiomyopathies  |  1
C0004096  |  bronchial asthma  |  1
C0751651  |  mitochondrial diseases  |  1
C0041696  |  major depression  |  1
C0151311  |  cranial nerve palsy  |  1
C0011860  |  type ii diabetes mellitus  |  1
C0029442  |  osteomalacia  |  1
C0037944  |  spinal stenosis  |  1
C0019196  |  hepatitis c  |  1
C0011854  |  insulin-dependent diabetes mellitus  |  1
C0036439  |  scoliosis  |  1
C0031117  |  peripheral neuropathies  |  1
C0011854  |  type 1 diabetes mellitus  |  1
C0015464  |  facial palsy  |  1
C0019158  |  hepatitis  |  1
C0030489  |  paraproteinemia  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:405)
338  |  APOB  |  CTD_human
1959  |  EGR2  |  UniProtKB-KW;GHR
3690  |  ITGB3  |  CTD_human
216  |  ALDH1A1  |  CTD_human
5243  |  ABCB1  |  CTD_human
5376  |  PMP22  |  CTD_human;UniProtKB-KW;GHR
1200  |  TPP1  |  CTD_human
7415  |  VCP  |  UniProtKB-KW
7124  |  TNF  |  CTD_human
9103  |  FCGR2C  |  CTD_human
9757  |  KMT2B  |  CTD_human
2071  |  ERCC3  |  CTD_human
53904  |  MYO3A  |  CTD_human
2067  |  ERCC1  |  CTD_human
2068  |  ERCC2  |  CTD_human
5339  |  PLEC  |  GHR
83439  |  TCF7L1  |  CTD_human
11280  |  SCN11A  |  UniProtKB-KW
23005  |  MAPKBP1  |  CTD_human
7350  |  UCP1  |  CTD_human
1440  |  CSF3  |  CTD_human
54332  |  GDAP1  |  UniProtKB-KW;GHR
57716  |  PRX  |  CTD_human;UniProtKB-KW;GHR
1244  |  ABCC2  |  CTD_human
9499  |  MYOT  |  CTD_human
26580  |  BSCL2  |  GHR
5581  |  PRKCE  |  CTD_human
5740  |  PTGIS  |  CTD_human
7481  |  WNT11  |  CTD_human
4524  |  MTHFR  |  CTD_human
6401  |  SELE  |  CTD_human
1134  |  CHRNA1  |  UniProtKB-KW;GHR
3315  |  HSPB1  |  UniProtKB-KW;GHR
9381  |  OTOF  |  UniProtKB-KW
55061  |  SUSD4  |  CTD_human
421  |  ARVCF  |  CTD_human
540  |  ATP7B  |  CTD_human
85365  |  ALG2  |  UniProtKB-KW
5244  |  ABCB4  |  CTD_human
23178  |  PASK  |  CTD_human
79784  |  MYH14  |  UniProtKB-KW
4538  |  MT-ND4  |  UniProtKB-KW;GHR
1493  |  CTLA4  |  CTD_human
25923  |  ATL3  |  UniProtKB-KW
81857  |  MED25  |  UniProtKB-KW;GHR
6403  |  SELP  |  CTD_human
8647  |  ABCB11  |  CTD_human
7345  |  UCHL1  |  CTD_human
3098  |  HK1  |  UniProtKB-KW
4141  |  MARS  |  UniProtKB-KW
142  |  PARP1  |  CTD_human
6616  |  SNAP25  |  UniProtKB-KW
4508  |  MT-ATP6  |  UniProtKB-KW
3569  |  IL6  |  CTD_human
64423  |  INF2  |  UniProtKB-KW;GHR
1649  |  DDIT3  |  CTD_human
9131  |  AIFM1  |  UniProtKB-KW;GHR
2956  |  MSH6  |  CTD_human
1544  |  CYP1A2  |  CTD_human
10859  |  LILRB1  |  CTD_human
3558  |  IL2  |  CTD_human
6834  |  SURF1  |  UniProtKB-KW
2670  |  GFAP  |  CTD_human
774  |  CACNA1B  |  CTD_human
2876  |  GPX1  |  CTD_human
7099  |  TLR4  |  CTD_human
3725  |  JUN  |  CTD_human
8292  |  COLQ  |  UniProtKB-KW;GHR
4255  |  MGMT  |  CTD_human
8714  |  ABCC3  |  CTD_human
169270  |  ZNF596  |  CTD_human
4330  |  MN1  |  CTD_human
4041  |  LRP5  |  CTD_human
4852  |  NPY  |  CTD_human
4058  |  LTK  |  CTD_human
3480  |  IGF1R  |  CTD_human
80208  |  SPG11  |  UniProtKB-KW
4288  |  MKI67  |  CTD_human
3439  |  IFNA1  |  CTD_human
10397  |  NDRG1  |  UniProtKB-KW;GHR
10125  |  RASGRP1  |  CTD_human
410  |  ARSA  |  CTD_human
3161  |  HMMR  |  CTD_human
1806  |  DPYD  |  CTD_human
2838  |  GPR15  |  CTD_human
6329  |  SCN4A  |  UniProtKB-KW;GHR
8565  |  YARS  |  UniProtKB-KW;GHR
51646  |  YPEL5  |  CTD_human
59341  |  TRPV4  |  UniProtKB-KW;GHR
5631  |  PRPS1  |  UniProtKB-KW;GHR
667  |  DST  |  UniProtKB-KW
675  |  BRCA2  |  CTD_human
1029  |  CDKN2A  |  CTD_human
6648  |  SOD2  |  CTD_human
23095  |  KIF1B  |  UniProtKB-KW;GHR
3953  |  LEPR  |  CTD_human
1588  |  CYP19A1  |  CTD_human
2328  |  FMO3  |  CTD_human
126129  |  CPT1C  |  CTD_human
28232  |  SLCO3A1  |  CTD_human
55526  |  DHTKD1  |  UniProtKB-KW;GHR
9990  |  SLC12A6  |  CTD_human;UniProtKB-KW
4669  |  NAGLU  |  UniProtKB-KW
19  |  ABCA1  |  CTD_human
8898  |  MTMR2  |  UniProtKB-KW;GHR
1582  |  CYP8B1  |  CTD_human
1780  |  DYNC1I1  |  CTD_human
7504  |  XK  |  CTD_human
285489  |  DOK7  |  UniProtKB-KW;GHR
10461  |  MERTK  |  CTD_human
1020  |  CDK5  |  CTD_human
16  |  AARS  |  UniProtKB-KW;GHR
4548  |  MTR  |  CTD_human
201299  |  RDM1  |  CTD_human
127833  |  SYT2  |  UniProtKB-KW
2072  |  ERCC4  |  CTD_human
472  |  ATM  |  CTD_human
1778  |  DYNC1H1  |  UniProtKB-KW;GHR
3383  |  ICAM1  |  CTD_human
3479  |  IGF1  |  CTD_human
4535  |  MT-ND1  |  UniProtKB-KW;GHR
4536  |  MT-ND2  |  UniProtKB-KW
4540  |  MT-ND5  |  UniProtKB-KW
4541  |  MT-ND6  |  UniProtKB-KW;GHR
9896  |  FIG4  |  CTD_human;UniProtKB-KW;GHR
1437  |  CSF2  |  CTD_human
3035  |  HARS  |  UniProtKB-KW
1111  |  CHEK1  |  CTD_human
4000  |  LMNA  |  UniProtKB-KW;GHR
467  |  ATF3  |  CTD_human
547  |  KIF1A  |  UniProtKB-KW
3399  |  ID3  |  CTD_human
4514  |  MT-CO3  |  UniProtKB-KW
65125  |  WNK1  |  CTD_human;UniProtKB-KW
60386  |  SLC25A19  |  UniProtKB-KW
1798  |  DPAGT1  |  UniProtKB-KW
79628  |  SH3TC2  |  UniProtKB-KW;GHR
4311  |  MME  |  UniProtKB-KW
10516  |  FBLN5  |  UniProtKB-KW
57449  |  PLEKHG5  |  UniProtKB-KW
1612  |  DAPK1  |  CTD_human
10908  |  PNPLA6  |  CTD_human
1906  |  EDN1  |  CTD_human
23563  |  CHST5  |  CTD_human
944  |  TNFSF8  |  CTD_human
51062  |  ATL1  |  UniProtKB-KW
3562  |  IL3  |  CTD_human
1144  |  CHRND  |  UniProtKB-KW;GHR
6787  |  NEK4  |  CTD_human
6925  |  TCF4  |  CTD_human
2950  |  GSTP1  |  CTD_human
1103  |  CHAT  |  UniProtKB-KW;GHR
4593  |  MUSK  |  UniProtKB-KW;GHR
4744  |  NEFH  |  CTD_human;UniProtKB-KW
26090  |  ABHD12  |  UniProtKB-KW
2064  |  ERBB2  |  CTD_human
658  |  BMPR1B  |  CTD_human
9517  |  SPTLC2  |  UniProtKB-KW
10558  |  SPTLC1  |  UniProtKB-KW
55809  |  TRERF1  |  CTD_human
335  |  APOA1  |  UniProtKB-KW
4803  |  NGF  |  CTD_human;UniProtKB-KW;GHR
7173  |  TPO  |  CTD_human
4363  |  ABCC1  |  CTD_human
79071  |  ELOVL6  |  CTD_human
4519  |  MT-CYB  |  UniProtKB-KW
4038  |  LRP4  |  UniProtKB-KW
3662  |  IRF4  |  CTD_human
5428  |  POLG  |  CTD_human;UniProtKB-KW
23170  |  TTLL12  |  CTD_human
8712  |  PAGE1  |  CTD_human
239  |  ALOX12  |  CTD_human
2571  |  GAD1  |  CTD_human
4359  |  MPZ  |  UniProtKB-KW;GHR
3508  |  IGHMBP2  |  CTD_human;UniProtKB-KW
6891  |  TAP2  |  CTD_human
581  |  BAX  |  CTD_human
83660  |  TLN2  |  CTD_human
7223  |  TRPC4  |  CTD_human
1617  |  DAZ1  |  CTD_human
2052  |  EPHX1  |  CTD_human
6335  |  SCN9A  |  GHR
7276  |  TTR  |  UniProtKB-KW
10891  |  PPARGC1A  |  CTD_human
2099  |  ESR1  |  CTD_human
5165  |  PDK3  |  UniProtKB-KW
3557  |  IL1RN  |  CTD_human
54908  |  SPDL1  |  CTD_human
26353  |  HSPB8  |  UniProtKB-KW;GHR
1786  |  DNMT1  |  UniProtKB-KW
9376  |  SLC22A8  |  CTD_human
51608  |  GET4  |  CTD_human
6584  |  SLC22A5  |  CTD_human
8518  |  IKBKAP  |  UniProtKB-KW;GHR
1785  |  DNM2  |  UniProtKB-KW;GHR
57379  |  AICDA  |  CTD_human
2632  |  GBE1  |  UniProtKB-KW
4358  |  MPV17  |  UniProtKB-KW
6442  |  SGCA  |  CTD_human
65059  |  RAPH1  |  CTD_human
11190  |  CEP250  |  CTD_human
6778  |  STAT6  |  CTD_human
2690  |  GHR  |  CTD_human
154  |  ADRB2  |  CTD_human
9342  |  SNAP29  |  UniProtKB-KW
672  |  BRCA1  |  CTD_human
54463  |  FAM134B  |  UniProtKB-KW
10732  |  TCFL5  |  CTD_human
51207  |  DUSP13  |  CTD_human
157313  |  CDCA2  |  CTD_human
1123  |  CHN1  |  GHR
6790  |  AURKA  |  CTD_human
440823  |  MIAT  |  CTD_human
54756  |  IL17RD  |  CTD_human
5445  |  PON2  |  CTD_human
3044  |  HBBP1  |  CTD_human
5423  |  POLB  |  CTD_human
990  |  CDC6  |  CTD_human
3500  |  IGHG1  |  CTD_human
1299  |  COL9A3  |  CTD_human
2264  |  FGFR4  |  CTD_human
9516  |  LITAF  |  UniProtKB-KW;GHR
23312  |  DMXL2  |  UniProtKB-KW
55699  |  IARS2  |  UniProtKB-KW
25894  |  PLEKHG4  |  CTD_human
5695  |  PSMB7  |  CTD_human
1145  |  CHRNE  |  UniProtKB-KW;GHR
65018  |  PINK1  |  CTD_human
1174  |  AP1S1  |  UniProtKB-KW
2707  |  GJB3  |  CTD_human
57054  |  DAZ3  |  CTD_human
9358  |  ITGBL1  |  CTD_human
3059  |  HCLS1  |  CTD_human
91137  |  SLC25A46  |  UniProtKB-KW
1716  |  DGUOK  |  UniProtKB-KW
10342  |  TFG  |  UniProtKB-KW
81569  |  ACTL8  |  CTD_human
4644  |  MYO5A  |  CTD_human
2528  |  FUT6  |  CTD_human
113510  |  HELQ  |  CTD_human
4193  |  MDM2  |  CTD_human
10038  |  PARP2  |  CTD_human
5055  |  SERPINB2  |  CTD_human
3606  |  IL18  |  CTD_human
84668  |  FAM126A  |  CTD_human
3094  |  HINT1  |  UniProtKB-KW
7879  |  RAB7A  |  UniProtKB-KW;GHR
199857  |  ALG14  |  UniProtKB-KW
121512  |  FGD4  |  UniProtKB-KW;GHR
5913  |  RAPSN  |  UniProtKB-KW;GHR
25830  |  SULT4A1  |  CTD_human
5783  |  PTPN13  |  CTD_human
10577  |  NPC2  |  CTD_human
26022  |  TMEM98  |  CTD_human
8618  |  CADPS  |  CTD_human
939  |  CD27  |  CTD_human
1071  |  CETP  |  CTD_human
28982  |  FLVCR1  |  UniProtKB-KW
10129  |  FRY  |  CTD_human
56164  |  STK31  |  CTD_human
9258  |  MFHAS1  |  CTD_human
6757  |  SSX2  |  CTD_human
6756  |  SSX1  |  CTD_human
6759  |  SSX4  |  CTD_human
5530  |  PPP3CA  |  CTD_human
196  |  AHR  |  CTD_human
10257  |  ABCC4  |  CTD_human
10057  |  ABCC5  |  CTD_human
7227  |  TRPS1  |  CTD_human
115265  |  DDIT4L  |  CTD_human
55247  |  NEIL3  |  CTD_human
60482  |  SLC5A7  |  UniProtKB-KW
151126  |  ZNF385B  |  CTD_human
8139  |  GAN  |  CTD_human;UniProtKB-KW
50484  |  RRM2B  |  UniProtKB-KW
5294  |  PIK3CG  |  CTD_human
6716  |  SRD5A2  |  CTD_human
10561  |  IFI44  |  CTD_human
27340  |  UTP20  |  CTD_human
5329  |  PLAUR  |  CTD_human
1950  |  EGF  |  CTD_human
375790  |  AGRN  |  UniProtKB-KW;GHR
30812  |  SOX8  |  CTD_human
326624  |  RAB37  |  CTD_human
59345  |  GNB4  |  UniProtKB-KW
2965  |  GTF2H1  |  CTD_human
91179  |  SCARF2  |  CTD_human
6715  |  SRD5A1  |  CTD_human
81846  |  SBF2  |  UniProtKB-KW;GHR
2673  |  GFPT1  |  UniProtKB-KW;GHR
9  |  NAT1  |  CTD_human
50999  |  TMED5  |  CTD_human
2575  |  GAGE3  |  CTD_human
2578  |  GAGE6  |  CTD_human
2579  |  GAGE7  |  CTD_human
2576  |  GAGE4  |  CTD_human
8797  |  TNFRSF10A  |  CTD_human
1305  |  COL13A1  |  UniProtKB-KW
9046  |  DOK2  |  CTD_human
368  |  ABCC6  |  CTD_human
2705  |  GJB1  |  UniProtKB-KW;GHR
6352  |  CCL5  |  CTD_human
960  |  CD44  |  CTD_human
64788  |  LMF1  |  CTD_human
55530  |  SVOP  |  CTD_human
1158  |  CKM  |  CTD_human
578  |  BAK1  |  CTD_human
6820  |  SULT2B1  |  CTD_human
8110  |  DPF3  |  CTD_human
4512  |  MT-CO1  |  UniProtKB-KW
3460  |  IFNGR2  |  CTD_human
7380  |  UPK3A  |  CTD_human
1621  |  DBH  |  CTD_human
5478  |  PPIA  |  CTD_human
22880  |  MORC2  |  UniProtKB-KW
27257  |  LSM1  |  CTD_human
4049  |  LTA  |  CTD_human
22948  |  CCT5  |  UniProtKB-KW
1337  |  COX6A1  |  UniProtKB-KW
66002  |  CYP4F12  |  CTD_human
114785  |  MBD6  |  CTD_human
2327  |  FMO2  |  CTD_human
90678  |  LRSAM1  |  UniProtKB-KW;GHR
50717  |  DCAF8  |  UniProtKB-KW
4595  |  MUTYH  |  CTD_human
2735  |  GLI1  |  CTD_human
51129  |  ANGPTL4  |  CTD_human
5689  |  PSMB1  |  CTD_human
2617  |  GARS  |  UniProtKB-KW;GHR
1633  |  DCK  |  CTD_human
57135  |  DAZ4  |  CTD_human
10643  |  IGF2BP3  |  CTD_human
23683  |  PRKD3  |  CTD_human
84898  |  PLXDC2  |  CTD_human
55215  |  FANCI  |  CTD_human
1591  |  CYP24A1  |  CTD_human
8829  |  NRP1  |  CTD_human
949  |  SCARB1  |  CTD_human
9154  |  SLC28A1  |  CTD_human
114880  |  OSBPL6  |  CTD_human
5611  |  DNAJC3  |  UniProtKB-KW
9989  |  PPP4R1  |  CTD_human
26748  |  GAGE12I  |  CTD_human
7364  |  UGT2B7  |  CTD_human
6095  |  RORA  |  CTD_human
7918  |  GPANK1  |  CTD_human
9156  |  EXO1  |  CTD_human
842  |  CASP9  |  CTD_human
1140  |  CHRNB1  |  UniProtKB-KW;GHR
81624  |  DIAPH3  |  UniProtKB-KW
64837  |  KLC2  |  UniProtKB-KW
55644  |  OSGEP  |  CTD_human
5467  |  PPARD  |  CTD_human
2999  |  GZMH  |  CTD_human
55075  |  UACA  |  CTD_human
7486  |  WRN  |  CTD_human
6305  |  SBF1  |  UniProtKB-KW
11056  |  DDX52  |  CTD_human
7450  |  VWF  |  CTD_human
9927  |  MFN2  |  UniProtKB-KW;GHR
23221  |  RHOBTB2  |  CTD_human
706  |  TSPO  |  CTD_human
54935  |  DUSP23  |  CTD_human
11006  |  LILRB4  |  CTD_human
4153  |  MBL2  |  CTD_human
5799  |  PTPRN2  |  CTD_human
2954  |  GSTZ1  |  CTD_human
4539  |  MT-ND4L  |  UniProtKB-KW;GHR
159162  |  RBMY2FP  |  CTD_human
6649  |  SOD3  |  CTD_human
548313  |  SSX4B  |  CTD_human
440279  |  UNC13C  |  CTD_human
10592  |  SMC2  |  CTD_human
3735  |  KARS  |  UniProtKB-KW;GHR
1066  |  CES1  |  CTD_human
81537  |  SGPP1  |  CTD_human
100126572  |  GJE1  |  CTD_human
4314  |  MMP3  |  CTD_human
5742  |  PTGS1  |  CTD_human
22943  |  DKK1  |  CTD_human
3364  |  HUS1  |  CTD_human
23321  |  TRIM2  |  UniProtKB-KW
6240  |  RRM1  |  CTD_human
2574  |  GAGE2C  |  CTD_human
890  |  CCNA2  |  CTD_human
54842  |  MFSD6  |  CTD_human
487  |  ATP2A1  |  GHR
1022  |  CDK7  |  CTD_human
6572  |  SLC18A3  |  UniProtKB-KW
3904  |  LAIR2  |  CTD_human
23150  |  FRMD4B  |  CTD_human
266740  |  MAGEA2B  |  CTD_human
9452  |  ITM2A  |  CTD_human
166336  |  PRICKLE2  |  UniProtKB-KW
55220  |  KLHDC8A  |  CTD_human
6492  |  SIM1  |  CTD_human
1396  |  CRIP1  |  CTD_human
4101  |  MAGEA2  |  CTD_human
59335  |  PRDM12  |  UniProtKB-KW
23242  |  COBL  |  CTD_human
57535  |  KIAA1324  |  CTD_human
9709  |  HERPUD1  |  CTD_human
90381  |  TICRR  |  CTD_human
6555  |  SLC10A2  |  CTD_human
5452  |  POU2F2  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:298)
1543  |  CYP1A1  |  CIPHER
1571  |  CYP2E1  |  CIPHER
2067  |  ERCC1  |  CIPHER;CTD_human
2944  |  GSTM1  |  CIPHER
2950  |  GSTP1  |  CIPHER;CTD_human
2952  |  GSTT1  |  CIPHER
6326  |  SCN2A  |  CIPHER
216  |  ALDH1A1  |  CTD_human
9103  |  FCGR2C  |  CTD_human
9757  |  KMT2B  |  CTD_human
83439  |  TCF7L1  |  CTD_human
23005  |  MAPKBP1  |  CTD_human
9499  |  MYOT  |  CTD_human
5581  |  PRKCE  |  CTD_human
7481  |  WNT11  |  CTD_human
55061  |  SUSD4  |  CTD_human
421  |  ARVCF  |  CTD_human
5243  |  ABCB1  |  CTD_human
5244  |  ABCB4  |  CTD_human
6403  |  SELP  |  CTD_human
10859  |  LILRB1  |  CTD_human
540  |  ATP7B  |  CTD_human
2670  |  GFAP  |  CTD_human
1493  |  CTLA4  |  CTD_human
169270  |  ZNF596  |  CTD_human
3480  |  IGF1R  |  CTD_human
3569  |  IL6  |  CTD_human
410  |  ARSA  |  CTD_human
3558  |  IL2  |  CTD_human
2838  |  GPR15  |  CTD_human
51646  |  YPEL5  |  CTD_human
1582  |  CYP8B1  |  CTD_human
1780  |  DYNC1I1  |  CTD_human
1020  |  CDK5  |  CTD_human
201299  |  RDM1  |  CTD_human
3725  |  JUN  |  CTD_human
65125  |  WNK1  |  CTD_human
1906  |  EDN1  |  CTD_human
23563  |  CHST5  |  CTD_human
3383  |  ICAM1  |  CTD_human
944  |  TNFSF8  |  CTD_human
6787  |  NEK4  |  CTD_human
4744  |  NEFH  |  CTD_human
7350  |  UCP1  |  CTD_human
3479  |  IGF1  |  CTD_human
55809  |  TRERF1  |  CTD_human
2956  |  MSH6  |  CTD_human
23170  |  TTLL12  |  CTD_human
8712  |  PAGE1  |  CTD_human
239  |  ALOX12  |  CTD_human
2571  |  GAD1  |  CTD_human
3161  |  HMMR  |  CTD_human
581  |  BAX  |  CTD_human
6891  |  TAP2  |  CTD_human
83660  |  TLN2  |  CTD_human
7223  |  TRPC4  |  CTD_human
54908  |  SPDL1  |  CTD_human
9376  |  SLC22A8  |  CTD_human
51608  |  GET4  |  CTD_human
6584  |  SLC22A5  |  CTD_human
1612  |  DAPK1  |  CTD_human
3557  |  IL1RN  |  CTD_human
6442  |  SGCA  |  CTD_human
65059  |  RAPH1  |  CTD_human
11190  |  CEP250  |  CTD_human
2690  |  GHR  |  CTD_human
4803  |  NGF  |  CTD_human
10732  |  TCFL5  |  CTD_human
51207  |  DUSP13  |  CTD_human
157313  |  CDCA2  |  CTD_human
440823  |  MIAT  |  CTD_human
54756  |  IL17RD  |  CTD_human
5445  |  PON2  |  CTD_human
3044  |  HBBP1  |  CTD_human
3500  |  IGHG1  |  CTD_human
7124  |  TNF  |  CTD_human
126129  |  CPT1C  |  CTD_human
4363  |  ABCC1  |  CTD_human
1544  |  CYP1A2  |  CTD_human
4255  |  MGMT  |  CTD_human
4361  |  MRE11A  |  CTD_human
5695  |  PSMB7  |  CTD_human
5423  |  POLB  |  CTD_human
57054  |  DAZ3  |  CTD_human
9358  |  ITGBL1  |  CTD_human
100170841  |  C17orf96  |  CTD_human
2072  |  ERCC4  |  CTD_human
2071  |  ERCC3  |  CTD_human
2068  |  ERCC2  |  CTD_human
81569  |  ACTL8  |  CTD_human
2528  |  FUT6  |  CTD_human
113510  |  HELQ  |  CTD_human
10038  |  PARP2  |  CTD_human
5055  |  SERPINB2  |  CTD_human
57379  |  AICDA  |  CTD_human
1649  |  DDIT3  |  CTD_human
2707  |  GJB3  |  CTD_human
8647  |  ABCB11  |  CTD_human
10908  |  PNPLA6  |  CTD_human
25830  |  SULT4A1  |  CTD_human
5783  |  PTPN13  |  CTD_human
26022  |  TMEM98  |  CTD_human
8618  |  CADPS  |  CTD_human
939  |  CD27  |  CTD_human
1071  |  CETP  |  CTD_human
10891  |  PPARGC1A  |  CTD_human
56164  |  STK31  |  CTD_human
9258  |  MFHAS1  |  CTD_human
6757  |  SSX2  |  CTD_human
6756  |  SSX1  |  CTD_human
6759  |  SSX4  |  CTD_human
5530  |  PPP3CA  |  CTD_human
2876  |  GPX1  |  CTD_human
7345  |  UCHL1  |  CTD_human
115265  |  DDIT4L  |  CTD_human
151126  |  ZNF385B  |  CTD_human
57716  |  PRX  |  CTD_human
10561  |  IFI44  |  CTD_human
27340  |  UTP20  |  CTD_human
10461  |  MERTK  |  CTD_human
30812  |  SOX8  |  CTD_human
326624  |  RAB37  |  CTD_human
10577  |  NPC2  |  CTD_human
7979  |  SHFM1  |  CTD_human
1029  |  CDKN2A  |  CTD_human
2965  |  GTF2H1  |  CTD_human
6716  |  SRD5A2  |  CTD_human
6715  |  SRD5A1  |  CTD_human
1617  |  DAZ1  |  CTD_human
472  |  ATM  |  CTD_human
9  |  NAT1  |  CTD_human
50999  |  TMED5  |  CTD_human
3439  |  IFNA1  |  CTD_human
1440  |  CSF3  |  CTD_human
2575  |  GAGE3  |  CTD_human
2578  |  GAGE6  |  CTD_human
2579  |  GAGE7  |  CTD_human
2576  |  GAGE4  |  CTD_human
8797  |  TNFRSF10A  |  CTD_human
9046  |  DOK2  |  CTD_human
64788  |  LMF1  |  CTD_human
55530  |  SVOP  |  CTD_human
4852  |  NPY  |  CTD_human
1158  |  CKM  |  CTD_human
658  |  BMPR1B  |  CTD_human
9990  |  SLC12A6  |  CTD_human
7227  |  TRPS1  |  CTD_human
578  |  BAK1  |  CTD_human
6820  |  SULT2B1  |  CTD_human
8110  |  DPF3  |  CTD_human
338  |  APOB  |  CTD_human
7380  |  UPK3A  |  CTD_human
5478  |  PPIA  |  CTD_human
10125  |  RASGRP1  |  CTD_human
4049  |  LTA  |  CTD_human
66002  |  CYP4F12  |  CTD_human
114785  |  MBD6  |  CTD_human
2327  |  FMO2  |  CTD_human
3059  |  HCLS1  |  CTD_human
1111  |  CHEK1  |  CTD_human
2735  |  GLI1  |  CTD_human
51129  |  ANGPTL4  |  CTD_human
5689  |  PSMB1  |  CTD_human
5428  |  POLG  |  CTD_human
23178  |  PASK  |  CTD_human
1633  |  DCK  |  CTD_human
9896  |  FIG4  |  CTD_human
7504  |  XK  |  CTD_human
79071  |  ELOVL6  |  CTD_human
10643  |  IGF2BP3  |  CTD_human
3606  |  IL18  |  CTD_human
4058  |  LTK  |  CTD_human
23683  |  PRKD3  |  CTD_human
8139  |  GAN  |  CTD_human
84898  |  PLXDC2  |  CTD_human
8714  |  ABCC3  |  CTD_human
1244  |  ABCC2  |  CTD_human
368  |  ABCC6  |  CTD_human
10057  |  ABCC5  |  CTD_human
10257  |  ABCC4  |  CTD_human
6790  |  AURKA  |  CTD_human
25894  |  PLEKHG4  |  CTD_human
1588  |  CYP19A1  |  CTD_human
8829  |  NRP1  |  CTD_human
9154  |  SLC28A1  |  CTD_human
114880  |  OSBPL6  |  CTD_human
9989  |  PPP4R1  |  CTD_human
6401  |  SELE  |  CTD_human
26748  |  GAGE12I  |  CTD_human
28232  |  SLCO3A1  |  CTD_human
19  |  ABCA1  |  CTD_human
7364  |  UGT2B7  |  CTD_human
6095  |  RORA  |  CTD_human
3953  |  LEPR  |  CTD_human
2328  |  FMO3  |  CTD_human
9156  |  EXO1  |  CTD_human
842  |  CASP9  |  CTD_human
949  |  SCARB1  |  CTD_human
84668  |  FAM126A  |  CTD_human
55644  |  OSGEP  |  CTD_human
4288  |  MKI67  |  CTD_human
3460  |  IFNGR2  |  CTD_human
1437  |  CSF2  |  CTD_human
2999  |  GZMH  |  CTD_human
55075  |  UACA  |  CTD_human
467  |  ATF3  |  CTD_human
2052  |  EPHX1  |  CTD_human
7486  |  WRN  |  CTD_human
7173  |  TPO  |  CTD_human
11056  |  DDX52  |  CTD_human
1200  |  TPP1  |  CTD_human
27257  |  LSM1  |  CTD_human
3690  |  ITGB3  |  CTD_human
7450  |  VWF  |  CTD_human
23221  |  RHOBTB2  |  CTD_human
706  |  TSPO  |  CTD_human
1806  |  DPYD  |  CTD_human
4041  |  LRP5  |  CTD_human
54935  |  DUSP23  |  CTD_human
91179  |  SCARF2  |  CTD_human
7099  |  TLR4  |  CTD_human
11006  |  LILRB4  |  CTD_human
2099  |  ESR1  |  CTD_human
3562  |  IL3  |  CTD_human
4153  |  MBL2  |  CTD_human
960  |  CD44  |  CTD_human
53904  |  MYO3A  |  CTD_human
7918  |  GPANK1  |  CTD_human
5467  |  PPARD  |  CTD_human
2954  |  GSTZ1  |  CTD_human
6925  |  TCF4  |  CTD_human
159162  |  RBMY2FP  |  CTD_human
142  |  PARP1  |  CTD_human
6649  |  SOD3  |  CTD_human
6648  |  SOD2  |  CTD_human
548313  |  SSX4B  |  CTD_human
440279  |  UNC13C  |  CTD_human
10592  |  SMC2  |  CTD_human
5294  |  PIK3CG  |  CTD_human
196  |  AHR  |  CTD_human
5740  |  PTGIS  |  CTD_human
1066  |  CES1  |  CTD_human
5329  |  PLAUR  |  CTD_human
81537  |  SGPP1  |  CTD_human
100126572  |  GJE1  |  CTD_human
57082  |  CASC5  |  CTD_human
4314  |  MMP3  |  CTD_human
5742  |  PTGS1  |  CTD_human
22943  |  DKK1  |  CTD_human
4330  |  MN1  |  CTD_human
6778  |  STAT6  |  CTD_human
3364  |  HUS1  |  CTD_human
6352  |  CCL5  |  CTD_human
2574  |  GAGE2C  |  CTD_human
890  |  CCNA2  |  CTD_human
3399  |  ID3  |  CTD_human
54842  |  MFSD6  |  CTD_human
5799  |  PTPRN2  |  CTD_human
154  |  ADRB2  |  CTD_human
1022  |  CDK7  |  CTD_human
1299  |  COL9A3  |  CTD_human
4193  |  MDM2  |  CTD_human
3904  |  LAIR2  |  CTD_human
23150  |  FRMD4B  |  CTD_human
266740  |  MAGEA2B  |  CTD_human
774  |  CACNA1B  |  CTD_human
55247  |  NEIL3  |  CTD_human
675  |  BRCA2  |  CTD_human
672  |  BRCA1  |  CTD_human
5376  |  PMP22  |  CTD_human
10129  |  FRY  |  CTD_human
4548  |  MTR  |  CTD_human
57135  |  DAZ4  |  CTD_human
9452  |  ITM2A  |  CTD_human
65018  |  PINK1  |  CTD_human
4595  |  MUTYH  |  CTD_human
55220  |  KLHDC8A  |  CTD_human
3662  |  IRF4  |  CTD_human
6240  |  RRM1  |  CTD_human
6492  |  SIM1  |  CTD_human
990  |  CDC6  |  CTD_human
4524  |  MTHFR  |  CTD_human
2264  |  FGFR4  |  CTD_human
1396  |  CRIP1  |  CTD_human
3508  |  IGHMBP2  |  CTD_human
55215  |  FANCI  |  CTD_human
4101  |  MAGEA2  |  CTD_human
1950  |  EGF  |  CTD_human
2064  |  ERBB2  |  CTD_human
23242  |  COBL  |  CTD_human
57535  |  KIAA1324  |  CTD_human
9709  |  HERPUD1  |  CTD_human
90381  |  TICRR  |  CTD_human
6555  |  SLC10A2  |  CTD_human
4644  |  MYO5A  |  CTD_human
5452  |  POU2F2  |  CTD_human
1621  |  DBH  |  CTD_human
1591  |  CYP24A1  |  CTD_human
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:742)
2  |  A2M  |  1.015  |  DISEASES
19  |  ABCA1  |  1.968  |  DISEASES
26090  |  ABHD12  |  3.366  |  DISEASES
176  |  ACAN  |  1.21  |  DISEASES
26027  |  ACOT11  |  2.16  |  DISEASES
56  |  ACRV1  |  1.788  |  DISEASES
58  |  ACTA1  |  1.819  |  DISEASES
60  |  ACTB  |  1.97  |  DISEASES
71  |  ACTG1  |  1.559  |  DISEASES
10881  |  ACTL7A  |  1.076  |  DISEASES
98  |  ACYP2  |  1.048  |  DISEASES
101  |  ADAM8  |  2.605  |  DISEASES
55811  |  ADCY10  |  1.924  |  DISEASES
116  |  ADCYAP1  |  1.177  |  DISEASES
55256  |  ADI1  |  1.175  |  DISEASES
9370  |  ADIPOQ  |  1.601  |  DISEASES
84890  |  ADO  |  1.044  |  DISEASES
135  |  ADORA2A  |  1.17  |  DISEASES
140  |  ADORA3  |  1.158  |  DISEASES
146  |  ADRA1D  |  1.692  |  DISEASES
174  |  AFP  |  2.154  |  DISEASES
3267  |  AGFG1  |  1.257  |  DISEASES
10555  |  AGPAT2  |  2.018  |  DISEASES
375790  |  AGRN  |  4.704  |  DISEASES
199  |  AIF1  |  3.508  |  DISEASES
9255  |  AIMP1  |  1.239  |  DISEASES
1645  |  AKR1C1  |  1.564  |  DISEASES
64400  |  AKTIP  |  1.337  |  DISEASES
210  |  ALAD  |  1.822  |  DISEASES
79868  |  ALG13  |  1.263  |  DISEASES
199857  |  ALG14  |  2.145  |  DISEASES
262  |  AMD1  |  1.431  |  DISEASES
270  |  AMPD1  |  1.813  |  DISEASES
273  |  AMPH  |  3.396  |  DISEASES
23141  |  ANKLE2  |  1.591  |  DISEASES
1174  |  AP1S1  |  2.757  |  DISEASES
91056  |  AP5B1  |  1.762  |  DISEASES
27301  |  APEX2  |  1.351  |  DISEASES
336  |  APOA2  |  1.744  |  DISEASES
54840  |  APTX  |  3.918  |  DISEASES
361  |  AQP4  |  5.852  |  DISEASES
367  |  AR  |  2.471  |  DISEASES
9138  |  ARHGEF1  |  1.386  |  DISEASES
9639  |  ARHGEF10  |  4.98  |  DISEASES
9048  |  ARTN  |  2.015  |  DISEASES
140460  |  ASB7  |  1.176  |  DISEASES
55210  |  ATAD3A  |  1.925  |  DISEASES
85300  |  ATCAY  |  1.588  |  DISEASES
467  |  ATF3  |  3.474  |  DISEASES
51062  |  ATL1  |  2.492  |  DISEASES
25923  |  ATL3  |  1.883  |  DISEASES
480  |  ATP1A4  |  1.969  |  DISEASES
487  |  ATP2A1  |  1.963  |  DISEASES
538  |  ATP7A  |  2.47  |  DISEASES
91647  |  ATPAF2  |  1.63  |  DISEASES
6311  |  ATXN2  |  2.489  |  DISEASES
4287  |  ATXN3  |  3.643  |  DISEASES
6314  |  ATXN7  |  2.875  |  DISEASES
551  |  AVP  |  2.783  |  DISEASES
554  |  AVPR2  |  2.701  |  DISEASES
567  |  B2M  |  4.346  |  DISEASES
9531  |  BAG3  |  2.67  |  DISEASES
617  |  BCS1L  |  3.339  |  DISEASES
627  |  BDNF  |  4.103  |  DISEASES
8678  |  BECN1  |  1.589  |  DISEASES
632  |  BGLAP  |  1.662  |  DISEASES
633  |  BGN  |  1.518  |  DISEASES
23299  |  BICD2  |  1.687  |  DISEASES
650  |  BMP2  |  2.304  |  DISEASES
664  |  BNIP3  |  1.03  |  DISEASES
149428  |  BNIPL  |  2.396  |  DISEASES
26580  |  BSCL2  |  3.944  |  DISEASES
64115  |  C10orf54  |  2.196  |  DISEASES
83636  |  C19orf12  |  2.943  |  DISEASES
720  |  C4A  |  1.092  |  DISEASES
721  |  C4B  |  1.48  |  DISEASES
78996  |  C7orf49  |  1.232  |  DISEASES
773  |  CACNA1A  |  2.906  |  DISEASES
774  |  CACNA1B  |  2.139  |  DISEASES
8912  |  CACNA1H  |  2.468  |  DISEASES
779  |  CACNA1S  |  1.776  |  DISEASES
23705  |  CADM1  |  2.253  |  DISEASES
796  |  CALCA  |  3.355  |  DISEASES
799  |  CALCR  |  1.185  |  DISEASES
801  |  CALM1  |  2.165  |  DISEASES
820  |  CAMP  |  3.476  |  DISEASES
825  |  CAPN3  |  1.109  |  DISEASES
114769  |  CARD16  |  1.749  |  DISEASES
857  |  CAV1  |  1.432  |  DISEASES
859  |  CAV3  |  1.703  |  DISEASES
875  |  CBS  |  2.324  |  DISEASES
885  |  CCK  |  2.61  |  DISEASES
388372  |  CCL4L1  |  1.638  |  DISEASES
6354  |  CCL7  |  1.045  |  DISEASES
10575  |  CCT4  |  2.605  |  DISEASES
930  |  CD19  |  2.517  |  DISEASES
913  |  CD1E  |  2.173  |  DISEASES
914  |  CD2  |  1.41  |  DISEASES
23607  |  CD2AP  |  2.158  |  DISEASES
958  |  CD40  |  2.075  |  DISEASES
959  |  CD40LG  |  6.165  |  DISEASES
921  |  CD5  |  2.48  |  DISEASES
1043  |  CD52  |  1.409  |  DISEASES
965  |  CD58  |  1.227  |  DISEASES
966  |  CD59  |  2.353  |  DISEASES
923  |  CD6  |  1.602  |  DISEASES
942  |  CD86  |  2.794  |  DISEASES
8476  |  CDC42BPA  |  1.267  |  DISEASES
29965  |  CDIP1  |  1.284  |  DISEASES
1020  |  CDK5  |  1.751  |  DISEASES
1025  |  CDK9  |  1.731  |  DISEASES
374286  |  CDRT1  |  1.47  |  DISEASES
146822  |  CDRT15  |  1.925  |  DISEASES
1041  |  CDSN  |  3.175  |  DISEASES
10658  |  CELF1  |  2.573  |  DISEASES
10659  |  CELF2  |  1.193  |  DISEASES
1103  |  CHAT  |  3.136  |  DISEASES
400916  |  CHCHD10  |  1.241  |  DISEASES
55636  |  CHD7  |  1.036  |  DISEASES
1123  |  CHN1  |  5.367  |  DISEASES
1137  |  CHRNA4  |  3.788  |  DISEASES
1146  |  CHRNG  |  1.551  |  DISEASES
51550  |  CINP  |  1.363  |  DISEASES
1180  |  CLCN1  |  1.668  |  DISEASES
1186  |  CLCN7  |  1.011  |  DISEASES
7122  |  CLDN5  |  1.871  |  DISEASES
387836  |  CLEC2A  |  1.097  |  DISEASES
157807  |  CLVS1  |  1.372  |  DISEASES
7555  |  CNBP  |  2.075  |  DISEASES
4850  |  CNOT4  |  1.128  |  DISEASES
1267  |  CNP  |  1.381  |  DISEASES
1268  |  CNR1  |  2.762  |  DISEASES
1269  |  CNR2  |  1.074  |  DISEASES
1270  |  CNTF  |  3.61  |  DISEASES
1272  |  CNTN1  |  3.513  |  DISEASES
6900  |  CNTN2  |  2.363  |  DISEASES
26047  |  CNTNAP2  |  2.981  |  DISEASES
28958  |  COA3  |  1.304  |  DISEASES
22796  |  COG2  |  1.39  |  DISEASES
1305  |  COL13A1  |  1.347  |  DISEASES
1289  |  COL5A1  |  1.152  |  DISEASES
8292  |  COLQ  |  4.913  |  DISEASES
84940  |  CORO6  |  1.412  |  DISEASES
84987  |  COX14  |  1.956  |  DISEASES
1351  |  COX8A  |  1.537  |  DISEASES
1369  |  CPN1  |  1.521  |  DISEASES
1376  |  CPT2  |  1.149  |  DISEASES
1378  |  CR1  |  1.832  |  DISEASES
1380  |  CR2  |  1.311  |  DISEASES
1385  |  CREB1  |  1.975  |  DISEASES
9244  |  CRLF1  |  3.37  |  DISEASES
1431  |  CS  |  1.85  |  DISEASES
1441  |  CSF3R  |  1.14  |  DISEASES
1471  |  CST3  |  1.937  |  DISEASES
1490  |  CTGF  |  1.627  |  DISEASES
56259  |  CTNNBL1  |  1.638  |  DISEASES
5476  |  CTSA  |  2.599  |  DISEASES
57703  |  CWC22  |  1.183  |  DISEASES
1524  |  CX3CR1  |  1.74  |  DISEASES
6387  |  CXCL12  |  1.727  |  DISEASES
9547  |  CXCL14  |  1.046  |  DISEASES
4283  |  CXCL9  |  1.567  |  DISEASES
2833  |  CXCR3  |  1.827  |  DISEASES
7852  |  CXCR4  |  1.478  |  DISEASES
1555  |  CYP2B6  |  1.482  |  DISEASES
1558  |  CYP2C8  |  2.315  |  DISEASES
1565  |  CYP2D6  |  1.691  |  DISEASES
113612  |  CYP2U1  |  1.585  |  DISEASES
1576  |  CYP3A4  |  1.057  |  DISEASES
55157  |  DARS2  |  2.553  |  DISEASES
1621  |  DBH  |  3.187  |  DISEASES
1639  |  DCTN1  |  2.625  |  DISEASES
80821  |  DDHD1  |  2.435  |  DISEASES
23259  |  DDHD2  |  1.481  |  DISEASES
1649  |  DDIT3  |  1.422  |  DISEASES
11218  |  DDX20  |  1.907  |  DISEASES
51428  |  DDX41  |  4.127  |  DISEASES
494513  |  DFNB59  |  3.834  |  DISEASES
9704  |  DHX34  |  1.091  |  DISEASES
81624  |  DIAPH3  |  3.029  |  DISEASES
1739  |  DLG1  |  2.093  |  DISEASES
28514  |  DLL1  |  1.925  |  DISEASES
1756  |  DMD  |  3.952  |  DISEASES
1760  |  DMPK  |  3.62  |  DISEASES
1763  |  DNA2  |  1.451  |  DISEASES
196385  |  DNAH10  |  1.422  |  DISEASES
8632  |  DNAH17  |  1.297  |  DISEASES
3300  |  DNAJB2  |  2.717  |  DISEASES
55735  |  DNAJC11  |  1.03  |  DISEASES
1759  |  DNM1  |  1.241  |  DISEASES
10059  |  DNM1L  |  4.112  |  DISEASES
1785  |  DNM2  |  4.287  |  DISEASES
1786  |  DNMT1  |  1.54  |  DISEASES
1791  |  DNTT  |  1.825  |  DISEASES
285489  |  DOK7  |  4.876  |  DISEASES
1798  |  DPAGT1  |  5.417  |  DISEASES
8818  |  DPM2  |  1.305  |  DISEASES
1803  |  DPP4  |  1.768  |  DISEASES
1805  |  DPT  |  1.684  |  DISEASES
644168  |  DRGX  |  1.278  |  DISEASES
1821  |  DRP2  |  2.906  |  DISEASES
1837  |  DTNA  |  1.421  |  DISEASES
1847  |  DUSP5  |  1.537  |  DISEASES
100288687  |  DUX4  |  1.54  |  DISEASES
653545  |  DUX4L5  |  1.54  |  DISEASES
503835  |  DUXA  |  1.49  |  DISEASES
1778  |  DYNC1H1  |  3.361  |  DISEASES
64641  |  EBF2  |  1.467  |  DISEASES
1896  |  EDA  |  3.383  |  DISEASES
1906  |  EDN1  |  3.327  |  DISEASES
1908  |  EDN3  |  1.691  |  DISEASES
1910  |  EDNRB  |  2.8  |  DISEASES
388795  |  EFCAB8  |  1.601  |  DISEASES
1967  |  EIF2B1  |  1.522  |  DISEASES
8891  |  EIF2B3  |  1.398  |  DISEASES
8890  |  EIF2B4  |  1.901  |  DISEASES
1993  |  ELAVL2  |  1.902  |  DISEASES
1995  |  ELAVL3  |  2.722  |  DISEASES
1996  |  ELAVL4  |  3.469  |  DISEASES
2010  |  EMD  |  2.592  |  DISEASES
2053  |  EPHX2  |  1.018  |  DISEASES
2107  |  ETF1  |  1.312  |  DISEASES
132884  |  EVC2  |  1.026  |  DISEASES
2130  |  EWSR1  |  1.682  |  DISEASES
2152  |  F3  |  1.786  |  DISEASES
84668  |  FAM126A  |  2.603  |  DISEASES
2189  |  FANCG  |  1.67  |  DISEASES
100302740  |  FAS-AS1  |  1.332  |  DISEASES
356  |  FASLG  |  1.371  |  DISEASES
10516  |  FBLN5  |  1.729  |  DISEASES
2200  |  FBN1  |  1.025  |  DISEASES
26190  |  FBXW2  |  1.456  |  DISEASES
2213  |  FCGR2B  |  1.588  |  DISEASES
2214  |  FCGR3A  |  1.556  |  DISEASES
121512  |  FGD4  |  4.137  |  DISEASES
2260  |  FGFR1  |  1.057  |  DISEASES
2316  |  FLNA  |  1.74  |  DISEASES
2318  |  FLNC  |  1.199  |  DISEASES
28982  |  FLVCR1  |  1.03  |  DISEASES
342184  |  FMN1  |  2.45  |  DISEASES
2332  |  FMR1  |  2.621  |  DISEASES
668  |  FOXL2  |  1.083  |  DISEASES
50943  |  FOXP3  |  3.327  |  DISEASES
448831  |  FRG2  |  2.353  |  DISEASES
6624  |  FSCN1  |  2.084  |  DISEASES
100302692  |  FTX  |  1.164  |  DISEASES
2524  |  FUT2  |  1.004  |  DISEASES
2395  |  FXN  |  3.423  |  DISEASES
2550  |  GABBR1  |  1.395  |  DISEASES
2582  |  GALE  |  1.44  |  DISEASES
2585  |  GALK2  |  1.45  |  DISEASES
2591  |  GALNT3  |  1.57  |  DISEASES
8811  |  GALR2  |  1.636  |  DISEASES
2596  |  GAP43  |  3.466  |  DISEASES
2617  |  GARS  |  4.492  |  DISEASES
2520  |  GAST  |  1.462  |  DISEASES
2632  |  GBE1  |  2.939  |  DISEASES
23464  |  GCAT  |  1.433  |  DISEASES
2641  |  GCG  |  3.148  |  DISEASES
2643  |  GCH1  |  1.209  |  DISEASES
78997  |  GDAP1L1  |  2.417  |  DISEASES
2668  |  GDNF  |  3.657  |  DISEASES
2673  |  GFPT1  |  2.175  |  DISEASES
2674  |  GFRA1  |  1.008  |  DISEASES
2675  |  GFRA2  |  1.637  |  DISEASES
2687  |  GGT5  |  1.124  |  DISEASES
2695  |  GIP  |  1.114  |  DISEASES
2705  |  GJB1  |  6.738  |  DISEASES
2706  |  GJB2  |  3.045  |  DISEASES
2707  |  GJB3  |  2.794  |  DISEASES
57165  |  GJC2  |  3.326  |  DISEASES
349149  |  GJC3  |  2.423  |  DISEASES
342035  |  GLDN  |  2.961  |  DISEASES
2739  |  GLO1  |  2.045  |  DISEASES
10020  |  GNE  |  3.29  |  DISEASES
2801  |  GOLGA2  |  1.276  |  DISEASES
27333  |  GOLIM4  |  2.144  |  DISEASES
8733  |  GPAA1  |  1.06  |  DISEASES
63906  |  GPATCH3  |  1.329  |  DISEASES
2719  |  GPC3  |  1.885  |  DISEASES
10243  |  GPHN  |  1.126  |  DISEASES
10457  |  GPNMB  |  1.183  |  DISEASES
4935  |  GPR143  |  3.1  |  DISEASES
2876  |  GPX1  |  1.631  |  DISEASES
2903  |  GRIN2A  |  2.012  |  DISEASES
2913  |  GRM3  |  1.514  |  DISEASES
2934  |  GSN  |  4.015  |  DISEASES
9446  |  GSTO1  |  2.278  |  DISEASES
2950  |  GSTP1  |  1.629  |  DISEASES
3030  |  HADHA  |  2.299  |  DISEASES
3032  |  HADHB  |  2.412  |  DISEASES
3039  |  HBA1  |  3.684  |  DISEASES
3052  |  HCCS  |  1.645  |  DISEASES
3055  |  HCK  |  2.578  |  DISEASES
57657  |  HCN3  |  1.249  |  DISEASES
10013  |  HDAC6  |  2.201  |  DISEASES
164045  |  HFM1  |  1.652  |  DISEASES
3091  |  HIF1A  |  1.288  |  DISEASES
8349  |  HIST2H2BE  |  1.796  |  DISEASES
3105  |  HLA-A  |  2.832  |  DISEASES
3106  |  HLA-B  |  1.668  |  DISEASES
3115  |  HLA-DPB1  |  1.539  |  DISEASES
3117  |  HLA-DQA1  |  2.022  |  DISEASES
3118  |  HLA-DQA2  |  1.199  |  DISEASES
3119  |  HLA-DQB1  |  1.417  |  DISEASES
3120  |  HLA-DQB2  |  1.146  |  DISEASES
3123  |  HLA-DRB1  |  1.868  |  DISEASES
3127  |  HLA-DRB5  |  1.268  |  DISEASES
8091  |  HMGA2  |  2.629  |  DISEASES
3146  |  HMGB1  |  1.584  |  DISEASES
51155  |  HN1  |  1.897  |  DISEASES
3178  |  HNRNPA1  |  1.603  |  DISEASES
3187  |  HNRNPH1  |  1.816  |  DISEASES
3188  |  HNRNPH2  |  1.787  |  DISEASES
3198  |  HOXA1  |  1.199  |  DISEASES
3211  |  HOXB1  |  2.724  |  DISEASES
3240  |  HP  |  1.292  |  DISEASES
3295  |  HSD17B4  |  1.422  |  DISEASES
3320  |  HSP90AA1  |  1.935  |  DISEASES
3303  |  HSPA1A  |  1.057  |  DISEASES
3309  |  HSPA5  |  1.553  |  DISEASES
3316  |  HSPB2  |  3.03  |  DISEASES
3339  |  HSPG2  |  3.28  |  DISEASES
3359  |  HTR3A  |  1.882  |  DISEASES
3363  |  HTR7  |  2.343  |  DISEASES
5654  |  HTRA1  |  1.433  |  DISEASES
3376  |  IARS  |  1.19  |  DISEASES
3440  |  IFNA2  |  2.358  |  DISEASES
3456  |  IFNB1  |  3.797  |  DISEASES
3481  |  IGF2  |  1.475  |  DISEASES
100423062  |  IGLL5  |  1.135  |  DISEASES
3550  |  IK  |  1.405  |  DISEASES
8518  |  IKBKAP  |  5.01  |  DISEASES
3586  |  IL10  |  3.561  |  DISEASES
3605  |  IL17A  |  2.901  |  DISEASES
11009  |  IL24  |  2.023  |  DISEASES
3559  |  IL2RA  |  1.25  |  DISEASES
10989  |  IMMT  |  1.853  |  DISEASES
9118  |  INA  |  1.692  |  DISEASES
64423  |  INF2  |  3.727  |  DISEASES
3664  |  IRF6  |  1.059  |  DISEASES
8660  |  IRS2  |  1.069  |  DISEASES
3684  |  ITGAM  |  1.601  |  DISEASES
3710  |  ITPR3  |  1.031  |  DISEASES
3712  |  IVD  |  1.976  |  DISEASES
3717  |  JAK2  |  1.49  |  DISEASES
23210  |  JMJD6  |  1.661  |  DISEASES
56704  |  JPH1  |  3.513  |  DISEASES
3725  |  JUN  |  2.289  |  DISEASES
102723508  |  KANTR  |  5.9  |  DISEASES
3735  |  KARS  |  1.055  |  DISEASES
390594  |  KBTBD13  |  1.239  |  DISEASES
3739  |  KCNA4  |  3.109  |  DISEASES
3745  |  KCNB1  |  1.106  |  DISEASES
9312  |  KCNB2  |  1.302  |  DISEASES
81033  |  KCNH6  |  1.025  |  DISEASES
3767  |  KCNJ11  |  1.576  |  DISEASES
50801  |  KCNK4  |  1.125  |  DISEASES
8645  |  KCNK5  |  1.666  |  DISEASES
3778  |  KCNMA1  |  1.745  |  DISEASES
3785  |  KCNQ2  |  1.786  |  DISEASES
3792  |  KEL  |  2.063  |  DISEASES
547  |  KIF1A  |  3.256  |  DISEASES
55605  |  KIF21A  |  5.015  |  DISEASES
3798  |  KIF5A  |  3.126  |  DISEASES
23008  |  KLHDC10  |  1.622  |  DISEASES
11275  |  KLHL2  |  2.422  |  DISEASES
11202  |  KLK8  |  1.923  |  DISEASES
3898  |  LAD1  |  2.038  |  DISEASES
3908  |  LAMA2  |  3.358  |  DISEASES
3916  |  LAMP1  |  1.085  |  DISEASES
3920  |  LAMP2  |  1.515  |  DISEASES
51520  |  LARS  |  2.045  |  DISEASES
54900  |  LAX1  |  2.118  |  DISEASES
11155  |  LDB3  |  1.835  |  DISEASES
3963  |  LGALS7  |  1.266  |  DISEASES
9211  |  LGI1  |  2.352  |  DISEASES
286826  |  LIN9  |  1.281  |  DISEASES
338799  |  LINC01089  |  1.004  |  DISEASES
84894  |  LINGO1  |  1.768  |  DISEASES
643418  |  LIPN  |  4.18  |  DISEASES
9516  |  LITAF  |  4.542  |  DISEASES
89782  |  LMLN  |  2.247  |  DISEASES
4000  |  LMNA  |  3.673  |  DISEASES
84823  |  LMNB2  |  1.236  |  DISEASES
9361  |  LONP1  |  1.215  |  DISEASES
4018  |  LPA  |  1.337  |  DISEASES
4038  |  LRP4  |  4.205  |  DISEASES
114659  |  LRRC37B  |  1.075  |  DISEASES
4049  |  LTA  |  1.7  |  DISEASES
1130  |  LYST  |  2.164  |  DISEASES
4099  |  MAG  |  6.549  |  DISEASES
54551  |  MAGEL2  |  1.012  |  DISEASES
55201  |  MAP1S  |  2.082  |  DISEASES
4133  |  MAP2  |  1.028  |  DISEASES
93487  |  MAPK1IP1L  |  2.513  |  DISEASES
5599  |  MAPK8  |  2.56  |  DISEASES
4137  |  MAPT  |  1.622  |  DISEASES
4140  |  MARK3  |  1.235  |  DISEASES
83742  |  MARVELD1  |  4.373  |  DISEASES
4151  |  MB  |  2.56  |  DISEASES
4152  |  MBD1  |  3.933  |  DISEASES
55777  |  MBD5  |  1.383  |  DISEASES
4153  |  MBL2  |  1.319  |  DISEASES
55796  |  MBNL3  |  2.198  |  DISEASES
4155  |  MBP  |  4.787  |  DISEASES
51360  |  MBTPS2  |  3.173  |  DISEASES
9282  |  MED14  |  1.352  |  DISEASES
79104  |  MEG8  |  1.397  |  DISEASES
83552  |  MFRP  |  1.719  |  DISEASES
8972  |  MGAM  |  3.093  |  DISEASES
4295  |  MLN  |  2.059  |  DISEASES
25974  |  MMACHC  |  1.761  |  DISEASES
4311  |  MME  |  1.792  |  DISEASES
4318  |  MMP9  |  2.576  |  DISEASES
4340  |  MOG  |  4.621  |  DISEASES
4359  |  MPZ  |  6.755  |  DISEASES
57129  |  MRPL47  |  1.013  |  DISEASES
4478  |  MSN  |  1.537  |  DISEASES
4508  |  MT-ATP6  |  4.159  |  DISEASES
4509  |  MT-ATP8  |  2.873  |  DISEASES
4512  |  MT-CO1  |  2.426  |  DISEASES
4514  |  MT-CO3  |  2.124  |  DISEASES
4519  |  MT-CYB  |  3.178  |  DISEASES
4524  |  MTHFR  |  2.513  |  DISEASES
4534  |  MTM1  |  4.722  |  DISEASES
8898  |  MTMR2  |  5.554  |  DISEASES
8897  |  MTMR3  |  1.319  |  DISEASES
9107  |  MTMR6  |  2.241  |  DISEASES
4535  |  MT-ND1  |  3.936  |  DISEASES
4536  |  MT-ND2  |  2.243  |  DISEASES
4537  |  MT-ND3  |  2.663  |  DISEASES
4538  |  MT-ND4  |  6.884  |  DISEASES
4539  |  MT-ND4L  |  3.104  |  DISEASES
4540  |  MT-ND5  |  3.936  |  DISEASES
4541  |  MT-ND6  |  5.281  |  DISEASES
25821  |  MTO1  |  1.168  |  DISEASES
2475  |  MTOR  |  1.085  |  DISEASES
9617  |  MTRF1  |  1.306  |  DISEASES
54516  |  MTRF1L  |  1.473  |  DISEASES
4550  |  MT-RNR2  |  1.392  |  DISEASES
100463285  |  MTRNR2L4  |  2.96  |  DISEASES
100463289  |  MTRNR2L5  |  3.496  |  DISEASES
100288485  |  MTRNR2L7  |  1.339  |  DISEASES
4511  |  MT-TC  |  2.65  |  DISEASES
4556  |  MT-TE  |  1.653  |  DISEASES
4558  |  MT-TF  |  1.044  |  DISEASES
4563  |  MT-TG  |  1.133  |  DISEASES
4566  |  MT-TK  |  4.225  |  DISEASES
4568  |  MT-TL2  |  1.486  |  DISEASES
4573  |  MT-TR  |  1.836  |  DISEASES
4593  |  MUSK  |  6.635  |  DISEASES
4609  |  MYC  |  1.215  |  DISEASES
4615  |  MYD88  |  1.104  |  DISEASES
4624  |  MYH6  |  1.926  |  DISEASES
4625  |  MYH7  |  1.682  |  DISEASES
4626  |  MYH8  |  1.721  |  DISEASES
283446  |  MYO1H  |  1.599  |  DISEASES
4647  |  MYO7A  |  1.023  |  DISEASES
4649  |  MYO9A  |  1.385  |  DISEASES
4671  |  NAIP  |  2.947  |  DISEASES
4685  |  NCAM2  |  1.613  |  DISEASES
23413  |  NCS1  |  2.128  |  DISEASES
57446  |  NDRG3  |  1.775  |  DISEASES
65009  |  NDRG4  |  1.531  |  DISEASES
4694  |  NDUFA1  |  3.062  |  DISEASES
4698  |  NDUFA5  |  2.392  |  DISEASES
4720  |  NDUFS2  |  1.103  |  DISEASES
4723  |  NDUFV1  |  1.32  |  DISEASES
4703  |  NEB  |  1.557  |  DISEASES
10763  |  NES  |  1.876  |  DISEASES
4763  |  NF1  |  2.877  |  DISEASES
4771  |  NF2  |  3.39  |  DISEASES
23114  |  NFASC  |  4.33  |  DISEASES
4780  |  NFE2L2  |  1.388  |  DISEASES
4803  |  NGF  |  5.795  |  DISEASES
4814  |  NINJ1  |  2.583  |  DISEASES
123606  |  NIPA1  |  1.036  |  DISEASES
54475  |  NLE1  |  1.143  |  DISEASES
114548  |  NLRP3  |  1.774  |  DISEASES
64802  |  NMNAT1  |  2.69  |  DISEASES
349565  |  NMNAT3  |  1.854  |  DISEASES
4842  |  NOS1  |  2.687  |  DISEASES
4843  |  NOS2  |  1.432  |  DISEASES
4878  |  NPPA  |  1.449  |  DISEASES
4879  |  NPPB  |  1.172  |  DISEASES
594857  |  NPS  |  4.191  |  DISEASES
7025  |  NR2F1  |  1.846  |  DISEASES
7026  |  NR2F2  |  1.081  |  DISEASES
4897  |  NRCAM  |  1.355  |  DISEASES
3084  |  NRG1  |  2.903  |  DISEASES
22978  |  NT5C2  |  1.209  |  DISEASES
56953  |  NT5M  |  1.475  |  DISEASES
4908  |  NTF3  |  4.187  |  DISEASES
4914  |  NTRK1  |  4.752  |  DISEASES
4916  |  NTRK3  |  2.649  |  DISEASES
8650  |  NUMB  |  3.17  |  DISEASES
4942  |  OAT  |  1.762  |  DISEASES
115209  |  OMA1  |  1.672  |  DISEASES
4958  |  OMD  |  1.371  |  DISEASES
4976  |  OPA1  |  2.919  |  DISEASES
94233  |  OPN4  |  3.558  |  DISEASES
4987  |  OPRL1  |  1.873  |  DISEASES
4988  |  OPRM1  |  1.3  |  DISEASES
5025  |  P2RX4  |  1.738  |  DISEASES
5027  |  P2RX7  |  2.147  |  DISEASES
103752588  |  PACERR  |  2.586  |  DISEASES
342979  |  PALM3  |  1.81  |  DISEASES
5071  |  PARK2  |  1.91  |  DISEASES
55486  |  PARL  |  1.91  |  DISEASES
142  |  PARP1  |  2.636  |  DISEASES
5080  |  PAX6  |  2.251  |  DISEASES
5081  |  PAX7  |  1.32  |  DISEASES
5091  |  PC  |  1.095  |  DISEASES
103164619  |  PCAT2  |  1.752  |  DISEASES
27445  |  PCLO  |  1.342  |  DISEASES
5125  |  PCSK5  |  1.024  |  DISEASES
9159  |  PCSK7  |  1.124  |  DISEASES
5133  |  PDCD1  |  1.793  |  DISEASES
5134  |  PDCD2  |  1.083  |  DISEASES
8654  |  PDE5A  |  2.879  |  DISEASES
5160  |  PDHA1  |  1.53  |  DISEASES
5165  |  PDK3  |  1.41  |  DISEASES
23590  |  PDSS1  |  1.434  |  DISEASES
5179  |  PENK  |  1.026  |  DISEASES
643847  |  PGA4  |  1.811  |  DISEASES
5223  |  PGAM1  |  1.02  |  DISEASES
5230  |  PGK1  |  1.22  |  DISEASES
5241  |  PGR  |  1.592  |  DISEASES
5251  |  PHEX  |  1.732  |  DISEASES
26227  |  PHGDH  |  2.121  |  DISEASES
55361  |  PI4K2A  |  1.19  |  DISEASES
63895  |  PIEZO2  |  1.828  |  DISEASES
84992  |  PIGY  |  1.411  |  DISEASES
23533  |  PIK3R5  |  1.376  |  DISEASES
65018  |  PINK1  |  1.318  |  DISEASES
114780  |  PKD1L2  |  1.053  |  DISEASES
11145  |  PLA2G16  |  4.094  |  DISEASES
8398  |  PLA2G6  |  2.006  |  DISEASES
200150  |  PLD5  |  1.451  |  DISEASES
5339  |  PLEC  |  1.247  |  DISEASES
25894  |  PLEKHG4  |  3.213  |  DISEASES
57449  |  PLEKHG5  |  1.447  |  DISEASES
5358  |  PLS3  |  1.325  |  DISEASES
11284  |  PNKP  |  2.753  |  DISEASES
10687  |  PNMA2  |  2.241  |  DISEASES
10908  |  PNPLA6  |  6.033  |  DISEASES
375775  |  PNPLA7  |  1.291  |  DISEASES
10957  |  PNRC1  |  1.849  |  DISEASES
50512  |  PODXL2  |  1.279  |  DISEASES
11232  |  POLG2  |  3.307  |  DISEASES
5453  |  POU3F1  |  2.45  |  DISEASES
5457  |  POU4F1  |  3.082  |  DISEASES
8541  |  PPFIA3  |  1.397  |  DISEASES
5493  |  PPL  |  1.013  |  DISEASES
5498  |  PPOX  |  1.269  |  DISEASES
5521  |  PPP2R2B  |  1.314  |  DISEASES
5535  |  PPP3R2  |  1.736  |  DISEASES
5542  |  PRB1  |  1.288  |  DISEASES
5549  |  PRELP  |  1.275  |  DISEASES
5621  |  PRNP  |  1.758  |  DISEASES
5627  |  PROS1  |  1.491  |  DISEASES
5631  |  PRPS1  |  3.133  |  DISEASES
221823  |  PRPS1L1  |  1.864  |  DISEASES
57716  |  PRX  |  4.722  |  DISEASES
5660  |  PSAP  |  1.038  |  DISEASES
23362  |  PSD3  |  1.275  |  DISEASES
5663  |  PSEN1  |  1.508  |  DISEASES
5715  |  PSMD9  |  2.634  |  DISEASES
5728  |  PTEN  |  1.109  |  DISEASES
5730  |  PTGDS  |  1.225  |  DISEASES
5743  |  PTGS2  |  2.324  |  DISEASES
5764  |  PTN  |  1.468  |  DISEASES
114971  |  PTPMT1  |  1.387  |  DISEASES
5783  |  PTPN13  |  1.985  |  DISEASES
26191  |  PTPN22  |  2.235  |  DISEASES
5788  |  PTPRC  |  1.825  |  DISEASES
51651  |  PTRH2  |  1.609  |  DISEASES
5817  |  PVR  |  1.144  |  DISEASES
9444  |  QKI  |  1.164  |  DISEASES
22931  |  RAB18  |  1.353  |  DISEASES
22930  |  RAB3GAP1  |  2.499  |  DISEASES
146713  |  RBFOX3  |  2.627  |  DISEASES
10179  |  RBM7  |  1.811  |  DISEASES
5962  |  RDX  |  1.361  |  DISEASES
65055  |  REEP1  |  2.808  |  DISEASES
5979  |  RET  |  1.794  |  DISEASES
83695  |  RHNO1  |  2.98  |  DISEASES
387  |  RHOA  |  1.552  |  DISEASES
55288  |  RHOT1  |  1.067  |  DISEASES
89941  |  RHOT2  |  1.322  |  DISEASES
9921  |  RNF10  |  1.345  |  DISEASES
64221  |  ROBO3  |  3.321  |  DISEASES
6164  |  RPL34  |  4.043  |  DISEASES
51750  |  RTEL1  |  2.522  |  DISEASES
84816  |  RTN4IP1  |  1.38  |  DISEASES
862  |  RUNX1T1  |  1.486  |  DISEASES
25950  |  RWDD3  |  1.587  |  DISEASES
6261  |  RYR1  |  4.144  |  DISEASES
6280  |  S100A9  |  1.078  |  DISEASES
26278  |  SACS  |  4.302  |  DISEASES
6295  |  SAG  |  1.643  |  DISEASES
23098  |  SARM1  |  1.595  |  DISEASES
6305  |  SBF1  |  3.391  |  DISEASES
6336  |  SCN10A  |  3.495  |  DISEASES
6329  |  SCN4A  |  2.975  |  DISEASES
6331  |  SCN5A  |  1.705  |  DISEASES
6334  |  SCN8A  |  2.532  |  DISEASES
6335  |  SCN9A  |  4.989  |  DISEASES
6392  |  SDHD  |  1.262  |  DISEASES
6397  |  SEC14L1  |  1.61  |  DISEASES
6401  |  SELE  |  1.791  |  DISEASES
5265  |  SERPINA1  |  1.274  |  DISEASES
12  |  SERPINA3  |  1.35  |  DISEASES
462  |  SERPINC1  |  2.157  |  DISEASES
9047  |  SH2D2A  |  1.755  |  DISEASES
79628  |  SH3TC2  |  4.974  |  DISEASES
390598  |  SKOR1  |  1.007  |  DISEASES
6560  |  SLC12A4  |  1.161  |  DISEASES
57468  |  SLC12A5  |  2.505  |  DISEASES
9990  |  SLC12A6  |  4.413  |  DISEASES
6572  |  SLC18A3  |  1.814  |  DISEASES
9962  |  SLC23A2  |  1.076  |  DISEASES
91137  |  SLC25A46  |  1.878  |  DISEASES
1811  |  SLC26A3  |  1.025  |  DISEASES
6520  |  SLC3A2  |  1.441  |  DISEASES
79581  |  SLC52A2  |  2.216  |  DISEASES
10479  |  SLC9A6  |  1.071  |  DISEASES
84679  |  SLC9A7  |  1.324  |  DISEASES
388588  |  SMIM1  |  1.528  |  DISEASES
6606  |  SMN1  |  5.174  |  DISEASES
6607  |  SMN2  |  5.223  |  DISEASES
23583  |  SMUG1  |  2.768  |  DISEASES
6622  |  SNCA  |  3.055  |  DISEASES
27044  |  SND1  |  1.158  |  DISEASES
8303  |  SNN  |  1.88  |  DISEASES
692197  |  SNORD77  |  1.234  |  DISEASES
6625  |  SNRNP70  |  1.169  |  DISEASES
6648  |  SOD2  |  2.108  |  DISEASES
6649  |  SOD3  |  1.239  |  DISEASES
6656  |  SOX1  |  2.659  |  DISEASES
6663  |  SOX10  |  3.739  |  DISEASES
6657  |  SOX2  |  1.178  |  DISEASES
80320  |  SP6  |  1.628  |  DISEASES
221833  |  SP8  |  1.445  |  DISEASES
100131390  |  SP9  |  2.163  |  DISEASES
6683  |  SPAST  |  2.66  |  DISEASES
6696  |  SPP1  |  1.708  |  DISEASES
6708  |  SPTA1  |  1.247  |  DISEASES
55304  |  SPTLC3  |  1.459  |  DISEASES
10011  |  SRA1  |  1.704  |  DISEASES
6714  |  SRC  |  1.121  |  DISEASES
6345  |  SRL  |  1.353  |  DISEASES
27286  |  SRPX2  |  1.104  |  DISEASES
6736  |  SRY  |  1.918  |  DISEASES
246329  |  STAC3  |  1.745  |  DISEASES
8027  |  STAM  |  1.954  |  DISEASES
246744  |  STH  |  1.094  |  DISEASES
11171  |  STRAP  |  1.956  |  DISEASES
8803  |  SUCLA2  |  2.052  |  DISEASES
8802  |  SUCLG1  |  1.054  |  DISEASES
6799  |  SULT1A2  |  1.299  |  DISEASES
6834  |  SURF1  |  3.152  |  DISEASES
10492  |  SYNCRIP  |  1.658  |  DISEASES
127833  |  SYT2  |  1.087  |  DISEASES
6863  |  TAC1  |  4.951  |  DISEASES
51347  |  TAOK3  |  1.723  |  DISEASES
9779  |  TBC1D5  |  1.331  |  DISEASES
6905  |  TBCE  |  1.981  |  DISEASES
6916  |  TBXAS1  |  1.581  |  DISEASES
6949  |  TCOF1  |  1.249  |  DISEASES
55775  |  TDP1  |  4.16  |  DISEASES
64518  |  TEKT3  |  2.053  |  DISEASES
7018  |  TF  |  2.098  |  DISEASES
7019  |  TFAM  |  2.42  |  DISEASES
7037  |  TFRC  |  1.051  |  DISEASES
7042  |  TGFB2  |  1.191  |  DISEASES
7052  |  TGM2  |  1.055  |  DISEASES
7054  |  TH  |  2.396  |  DISEASES
7056  |  THBD  |  1.456  |  DISEASES
117145  |  THEM4  |  1.122  |  DISEASES
1678  |  TIMM8A  |  2.442  |  DISEASES
7084  |  TK2  |  1.635  |  DISEASES
7086  |  TKT  |  2.577  |  DISEASES
7099  |  TLR4  |  2.354  |  DISEASES
23731  |  TMEM245  |  1.313  |  DISEASES
83857  |  TMTC1  |  1.844  |  DISEASES
7124  |  TNF  |  4.619  |  DISEASES
8784  |  TNFRSF18  |  1.164  |  DISEASES
7133  |  TNFRSF1B  |  3.14  |  DISEASES
8718  |  TNFRSF25  |  3.756  |  DISEASES
7293  |  TNFRSF4  |  1.173  |  DISEASES
10673  |  TNFSF13B  |  2.744  |  DISEASES
27327  |  TNRC6A  |  1.928  |  DISEASES
9804  |  TOMM20  |  1.144  |  DISEASES
7150  |  TOP1  |  1.992  |  DISEASES
7156  |  TOP3A  |  1.04  |  DISEASES
1861  |  TOR1A  |  2.293  |  DISEASES
7170  |  TPM3  |  1.163  |  DISEASES
23321  |  TRIM2  |  2.355  |  DISEASES
7706  |  TRIM25  |  1.182  |  DISEASES
51592  |  TRIM33  |  1.107  |  DISEASES
11078  |  TRIOBP  |  1.281  |  DISEASES
7222  |  TRPC3  |  1.017  |  DISEASES
79054  |  TRPM8  |  3.525  |  DISEASES
7442  |  TRPV1  |  4.326  |  DISEASES
51393  |  TRPV2  |  1.323  |  DISEASES
162514  |  TRPV3  |  1.433  |  DISEASES
7106  |  TSPAN4  |  2.681  |  DISEASES
706  |  TSPO  |  1.815  |  DISEASES
54970  |  TTC12  |  1.705  |  DISEASES
7273  |  TTN  |  4.632  |  DISEASES
113457  |  TUBA3D  |  1.258  |  DISEASES
203068  |  TUBB  |  1.243  |  DISEASES
7280  |  TUBB2A  |  2.026  |  DISEASES
10381  |  TUBB3  |  3.067  |  DISEASES
7295  |  TXN  |  1.412  |  DISEASES
10628  |  TXNIP  |  1.14  |  DISEASES
7317  |  UBA1  |  2.272  |  DISEASES
8266  |  UBL4A  |  3.784  |  DISEASES
7402  |  UTRN  |  3.228  |  DISEASES
6843  |  VAMP1  |  1.463  |  DISEASES
57216  |  VANGL2  |  2.923  |  DISEASES
7415  |  VCP  |  2.083  |  DISEASES
7422  |  VEGFA  |  3.747  |  DISEASES
7432  |  VIP  |  2.565  |  DISEASES
7433  |  VIPR1  |  1.173  |  DISEASES
23230  |  VPS13A  |  2.531  |  DISEASES
51699  |  VPS29  |  1.719  |  DISEASES
7453  |  WARS  |  1.126  |  DISEASES
134430  |  WDR36  |  1.973  |  DISEASES
84942  |  WDR73  |  1.383  |  DISEASES
23038  |  WDTC1  |  2.538  |  DISEASES
7499  |  XG  |  1.435  |  DISEASES
10138  |  YAF2  |  1.319  |  DISEASES
8565  |  YARS  |  3.169  |  DISEASES
51067  |  YARS2  |  2.418  |  DISEASES
7709  |  ZBTB17  |  1.013  |  DISEASES
254887  |  ZDHHC23  |  1.223  |  DISEASES
7750  |  ZMYM2  |  1.663  |  DISEASES
9203  |  ZMYM3  |  1.144  |  DISEASES
9204  |  ZMYM6  |  1.265  |  DISEASES
Locus(Waiting for update.)
Disease ID 1458
Disease neuropathy, peripheral
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:116)
HP:0012531  |  Pain  |  83
HP:0000819  |  Diabetes mellitus  |  33
HP:0006775  |  Multiple myeloma  |  13
HP:0001324  |  Muscular weakness  |  8
HP:0002725  |  Systemic lupus erythematosus  |  6
HP:0012532  |  Chronic pain  |  5
HP:0000488  |  Noninflammatory retina disease  |  5
HP:0001251  |  Ataxia  |  4
HP:0001369  |  Arthritis  |  4
HP:0011096  |  Demyelination  |  4
HP:0000365  |  Hearing impairment  |  4
HP:0001370  |  Rheumatoid arthritis  |  4
HP:0001337  |  Tremor  |  4
HP:0003401  |  Paresthesia  |  3
HP:0100033  |  Tic disorder  |  3
HP:0003002  |  Breast carcinoma  |  3
HP:0002527  |  Falls  |  3
HP:0001067  |  Neurofibromas  |  3
HP:0100512  |  Vitamin D deficiency  |  3
HP:0001760  |  Foot deformities  |  3
HP:0001903  |  Anemia  |  2
HP:0001513  |  Obesity  |  2
HP:0000123  |  Nephritis  |  2
HP:0002960  |  Autoimmune condition  |  2
HP:0003474  |  Sensory impairment  |  2
HP:0000716  |  Depression  |  2
HP:0002633  |  Vasculitis  |  2
HP:0006510  |  Chronic obstructive pulmonary disease  |  2
HP:0003040  |  Arthropathy  |  2
HP:0040078  |  Axonal degeneration  |  2
HP:0001274  |  Absent corpus callosum  |  2
HP:0012533  |  Allodynia  |  2
HP:0002936  |  Decreased distal sensation  |  2
HP:0000822  |  Hypertension  |  2
HP:0000112  |  Nephropathy  |  2
HP:0000833  |  Glucose intolerance  |  2
HP:0006721  |  Acute lymphocytic leukemia  |  2
HP:0002459  |  Dysautonomia  |  2
HP:0004336  |  Myelin outfoldings  |  2
HP:0002099  |  Asthma  |  2
HP:0002019  |  Dyschezia  |  2
HP:0000802  |  Erectile dysfunction  |  2
HP:0012115  |  Liver inflammation  |  2
HP:0001394  |  Hepatic cirrhosis  |  1
HP:0001258  |  Spastic paraplegia, lower limb  |  1
HP:0003124  |  Elevated serum cholesterol  |  1
HP:0002503  |  Spinocerebellar tract degeneration  |  1
HP:0002500  |  Leukoaraiosis  |  1
HP:0000979  |  Purpura  |  1
HP:0002896  |  Liver cancer  |  1
HP:0001284  |  Areflexia  |  1
HP:0001875  |  Neutropenia  |  1
HP:0002650  |  Scoliosis  |  1
HP:0002514  |  Intracranial calcifications  |  1
HP:0001269  |  Hemiparesis  |  1
HP:0000602  |  Ophthalmoplegia  |  1
HP:0002248  |  Vomitting blood  |  1
HP:0001744  |  Splenomegaly  |  1
HP:0003470  |  Inability to move  |  1
HP:0004395  |  Malnutrition  |  1
HP:0003419  |  Low back pain  |  1
HP:0012089  |  Arteritis  |  1
HP:0010783  |  Erythema  |  1
HP:0001698  |  Pericardial effusions  |  1
HP:0002652  |  Skeletal dysplasia  |  1
HP:0100280  |  Morbus Crohn  |  1
HP:0000159  |  Lip abnormality  |  1
HP:0001300  |  Parkinsonism  |  1
HP:0002615  |  Low blood pressure  |  1
HP:0000407  |  sensorineural hearing loss  |  1
HP:0002749  |  Osteomalacia  |  1
HP:0002621  |  Atherosclerosis  |  1
HP:0011034  |  Amyloid disease  |  1
HP:0006824  |  Cranial nerve palsy  |  1
HP:0001252  |  Hypotonia  |  1
HP:0002747  |  Respiratory distress due to muscle weakness  |  1
HP:0001278  |  Orthostatic hypotension  |  1
HP:0012452  |  Restless legs  |  1
HP:0002345  |  Action tremor  |  1
HP:0002385  |  Paraparesis  |  1
HP:0002821  |  Charcot arthropathy  |  1
HP:0005101  |  High-frequency deafness  |  1
HP:0002172  |  Postural instability  |  1
HP:0010550  |  Paraplegia  |  1
HP:0012651  |  Abasia  |  1
HP:0001379  |  Degenerative joint disease  |  1
HP:0003077  |  Hyperlipidemia  |  1
HP:0003418  |  Back pain  |  1
HP:0003431  |  Decreased motor nerve conduction velocities  |  1
HP:0012378  |  Fatigue  |  1
HP:0010628  |  Facial palsy, unilateral or bilateral  |  1
HP:0003323  |  Muscle weakness, progressive  |  1
HP:0000648  |  Optic-nerve degeneration  |  1
HP:0100778  |  Cryoglobulinemia  |  1
HP:0001909  |  Leukemia  |  1
HP:0002308  |  Chiari malformation  |  1
HP:0002313  |  Spastic paraparesis  |  1
HP:0100827  |  Lymphocytosis  |  1
HP:0100504  |  Riboflavin deficiency  |  1
HP:0000734  |  Disinhibition  |  1
HP:0003003  |  Colon cancer  |  1
HP:0001297  |  Cerebral vascular events  |  1
HP:0002322  |  Resting tremor  |  1
HP:0001298  |  Encephalopathy  |  1
HP:0001761  |  Pes cavus  |  1
HP:0002240  |  Enlarged liver  |  1
HP:0012534  |  Dysesthesia  |  1
HP:0000855  |  Insulin resistance  |  1
HP:0012444  |  Brain wasting  |  1
HP:0003450  |  Regenerative activity on nerve biopsy  |  1
HP:0011868  |  Sciatica  |  1
HP:0001880  |  Eosinophilia  |  1
HP:0003416  |  Spinal canal stenosis  |  1
HP:0003326  |  Muscle pain  |  1
HP:0005978  |  Noninsulin dependent diabetes mellitus  |  1
HP:0002664  |  Neoplasia  |  1
Disease ID 1458
Disease neuropathy, peripheral
Manually Symptom(Waiting for update.)
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:21)
C0030193  |  pain  |  77
C0423716  |  neuropathic pain  |  28
C0426768  |  o sign  |  8
C0004093  |  weakness  |  8
C0278134  |  sensory loss  |  4
C0150055  |  chronic pain  |  4
C0085119  |  foot ulcers  |  3
C0004134  |  ataxia  |  3
C0040822  |  tremor  |  3
C1384666  |  hearing loss  |  2
C1136085  |  monoclonal gammopathy  |  2
C0037773  |  hereditary spastic paraplegia  |  2
C0037771  |  spastic paraparesis  |  1
C0234376  |  action tremor  |  1
C0221166  |  paraparesis  |  1
C0007286  |  carpal tunnel syndrome  |  1
C0030489  |  paraproteinemia  |  1
C0422833  |  ent symptoms  |  1
C0241981  |  loss of balance  |  1
C0035258  |  restless legs syndrome  |  1
C0029089  |  ophthalmoplegia  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:41)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs104894345208589003315HSPB1umls:C0031117BeFreeThe K141E and K141N mutated forms of human HSPB8 that are associated with peripheral neuropathy were significantly less efficient than wild-type HSPB8 in decreasing the aggregation of both mutated ataxin 3 and P182L-HSPB1.0.0008143262010HSPB812119187080GC,T
rs1048943452085890026353HSPB8umls:C0031117BeFreeThe K141E and K141N mutated forms of human HSPB8 that are associated with peripheral neuropathy were significantly less efficient than wild-type HSPB8 in decreasing the aggregation of both mutated ataxin 3 and P182L-HSPB1.0.0005428842010HSPB812119187080GC,T
rs104894345208589004287ATXN3umls:C0031117BeFreeThe K141E and K141N mutated forms of human HSPB8 that are associated with peripheral neuropathy were significantly less efficient than wild-type HSPB8 in decreasing the aggregation of both mutated ataxin 3 and P182L-HSPB1.0.0002714422010HSPB812119187080GC,T
rs104894351208589004287ATXN3umls:C0031117BeFreeThe K141E and K141N mutated forms of human HSPB8 that are associated with peripheral neuropathy were significantly less efficient than wild-type HSPB8 in decreasing the aggregation of both mutated ataxin 3 and P182L-HSPB1.0.0002714422010HSPB812119187078AG
rs1048943512085890026353HSPB8umls:C0031117BeFreeThe K141E and K141N mutated forms of human HSPB8 that are associated with peripheral neuropathy were significantly less efficient than wild-type HSPB8 in decreasing the aggregation of both mutated ataxin 3 and P182L-HSPB1.0.0005428842010HSPB812119187078AG
rs104894351208589003315HSPB1umls:C0031117BeFreeThe K141E and K141N mutated forms of human HSPB8 that are associated with peripheral neuropathy were significantly less efficient than wild-type HSPB8 in decreasing the aggregation of both mutated ataxin 3 and P182L-HSPB1.0.0008143262010HSPB812119187078AG
rs104894619145023745376PMP22umls:C0031117BeFreeThe Thr(118)Met substitution in the peripheral myelin protein 22 (PMP22) gene has been detected in a number of families with demyelinating Charcot-Marie-Tooth (CMT1) neuropathy or with the hereditary neuropathy with liability to pressure palsy, but in none of them has it consistently segregated with the peripheral neuropathy.0.1295004662003PMP221715231047GA
rs1050450211857022876GPX1umls:C0031117BeFreeAssociation between the rs1050450 glutathione peroxidase-1 (C > T) gene variant and peripheral neuropathy in two independent samples of subjects with diabetes mellitus.0.1202714422012GPX1349357401GA
rs113994095185463435428POLGumls:C0031117BeFreePatients harboring A467T and W748S POLG1 mutations present with a broad variety of neurological phenotypes, including cerebellar ataxia, progressive external ophthalmoplegia (PEO), myoclonus, epilepsy, and peripheral neuropathy.0.1205428842008POLG;MIR67661589327201CT
rs113994097185463435428POLGumls:C0031117BeFreePatients harboring A467T and W748S POLG1 mutations present with a broad variety of neurological phenotypes, including cerebellar ataxia, progressive external ophthalmoplegia (PEO), myoclonus, epilepsy, and peripheral neuropathy.0.1205428842008POLG1589323426CG
rs11541796174536267276TTRumls:C0031117BeFreeWe report the identification of a new transthyretin (TTR) gene mutation and variant protein, Glu61Gly, in a 55-year-old man with progressive cardiomyopathy, mild peripheral neuropathy and bilateral carpal tunnel syndrome.0.0046145122007TTR1831593011AG
rs11684077820472890859CAV3umls:C0031117BeFreeOur findings are of clinical interest because they might help explain the remarkable differences in the degree of muscle lesions caused by caveolin-3 mutations and also the co-occurrence of peripheral neuropathy in the R26Q caveolinopathy case presented.0.0002714422010CAV3;SSUH238733956GA,C
rs116840778204728904804NGFRumls:C0031117BeFreePrompted by the observation of a marked chronic peripheral neuropathy in a patient suffering from rippling muscle disease due to the R26Q caveolin-3 mutation and because TrkA is expressed by neuronal cells and skeletal muscle fibers, we performed a detailed comparative study on the effect of pathogenic caveolin-3 mutants on the signaling and trafficking of the TrkA nerve growth factor receptor and, for comparison, of the epidermal growth factor receptor.0.0005428842010CAV3;SSUH238733956GA,C
rs116840778204728901956EGFRumls:C0031117BeFreePrompted by the observation of a marked chronic peripheral neuropathy in a patient suffering from rippling muscle disease due to the R26Q caveolin-3 mutation and because TrkA is expressed by neuronal cells and skeletal muscle fibers, we performed a detailed comparative study on the effect of pathogenic caveolin-3 mutants on the signaling and trafficking of the TrkA nerve growth factor receptor and, for comparison, of the epidermal growth factor receptor.0.0008143262010CAV3;SSUH238733956GA,C
rs119103263248628629927MFN2umls:C0031117BeFreeMfn2(R94W) heterozygous mice show histopathology and age-dependent open-field test abnormalities, which support a mild peripheral neuropathy.0.0043530012014MFN2111992659CT
rs121909078231888227879RAB7Aumls:C0031117BeFreeFour missense mutations in the late endosomal Rab7 GTPase (L129F, K157N, N161T, and V162M) cause the autosomal dominant peripheral neuropathy Charcot-Marie-Tooth type 2B (CMT2B) disease.0.0002714422013RAB7A3128806576CT
rs121909079231888227879RAB7Aumls:C0031117BeFreeFour missense mutations in the late endosomal Rab7 GTPase (L129F, K157N, N161T, and V162M) cause the autosomal dominant peripheral neuropathy Charcot-Marie-Tooth type 2B (CMT2B) disease.0.0002714422013RAB7A3128807627GA
rs121909080231888227879RAB7Aumls:C0031117BeFreeFour missense mutations in the late endosomal Rab7 GTPase (L129F, K157N, N161T, and V162M) cause the autosomal dominant peripheral neuropathy Charcot-Marie-Tooth type 2B (CMT2B) disease.0.0002714422013RAB7A3128807625AC
rs121909081231888227879RAB7Aumls:C0031117BeFreeFour missense mutations in the late endosomal Rab7 GTPase (L129F, K157N, N161T, and V162M) cause the autosomal dominant peripheral neuropathy Charcot-Marie-Tooth type 2B (CMT2B) disease.0.0002714422013RAB7A3128807614GC
rs121909112236438703315HSPB1umls:C0031117BeFreePhysico-chemical properties of R140G and K141Q mutants of human small heat shock protein HspB1 associated with hereditary peripheral neuropathies.0.0008143262013HSPB1776303855CG
rs121913595257201674359MPZumls:C0031117BeFreeThe p.Thr124Met mutation in the myelin protein zero (MPZ) causes the Charcot-Marie-Tooth disease type 2J, a peripheral neuropathy with additional symptoms as pupillary alterations and deafness.0.0094344522015MPZ1161306785GT,A
rs1413239208644051806DPYDumls:C0031117BeFreeLate-onset vincristine-induced peripheral neuropathy was associated with the presence of SNPs in genes involved in absorption, distribution, metabolism, and excretion-eg, rs1413239 in DPYD (3·29, 1·47-7·37, 5·40×10(-3)) and rs3887412 in ABCC1 (3·36, 1·47-7·67, p=5·70×10(-3)).0.1202714422010DPYD;DPYD-AS1197221459CT
rs1413239208644054363ABCC1umls:C0031117BeFreeLate-onset vincristine-induced peripheral neuropathy was associated with the presence of SNPs in genes involved in absorption, distribution, metabolism, and excretion-eg, rs1413239 in DPYD (3·29, 1·47-7·37, 5·40×10(-3)) and rs3887412 in ABCC1 (3·36, 1·47-7·67, p=5·70×10(-3)).0.1202714422010DPYD;DPYD-AS1197221459CT
rs141672872208589003315HSPB1umls:C0031117BeFreeThe K141E and K141N mutated forms of human HSPB8 that are associated with peripheral neuropathy were significantly less efficient than wild-type HSPB8 in decreasing the aggregation of both mutated ataxin 3 and P182L-HSPB1.0.0008143262010ATXN31492083151CT
rs141672872208589004287ATXN3umls:C0031117BeFreeThe K141E and K141N mutated forms of human HSPB8 that are associated with peripheral neuropathy were significantly less efficient than wild-type HSPB8 in decreasing the aggregation of both mutated ataxin 3 and P182L-HSPB1.0.0002714422010ATXN31492083151CT
rs1416728722085890026353HSPB8umls:C0031117BeFreeThe K141E and K141N mutated forms of human HSPB8 that are associated with peripheral neuropathy were significantly less efficient than wild-type HSPB8 in decreasing the aggregation of both mutated ataxin 3 and P182L-HSPB1.0.0005428842010ATXN31492083151CT
rs1695192235732950GSTP1umls:C0031117BeFreeRelationship between GSTP1 Ile(105)Val polymorphism and docetaxel-induced peripheral neuropathy: clinical evidence of a role of oxidative stress in taxane toxicity.0.129739572009GSTP11167585218AG
rs17183814197383916326SCN2Aumls:C0031117BeFreeLiability of the voltage-gated sodium channel gene SCN2A R19K polymorphism to oxaliplatin-induced peripheral neuropathy.0.0026384742009SCN2A2165295879GA
rs28937569208589003315HSPB1umls:C0031117BeFreeThe K141E and K141N mutated forms of human HSPB8 that are associated with peripheral neuropathy were significantly less efficient than wild-type HSPB8 in decreasing the aggregation of both mutated ataxin 3 and P182L-HSPB1.0.0008143262010HSPB1776304100CT
rs28937569208589004287ATXN3umls:C0031117BeFreeThe K141E and K141N mutated forms of human HSPB8 that are associated with peripheral neuropathy were significantly less efficient than wild-type HSPB8 in decreasing the aggregation of both mutated ataxin 3 and P182L-HSPB1.0.0002714422010HSPB1776304100CT
rs289375692085890026353HSPB8umls:C0031117BeFreeThe K141E and K141N mutated forms of human HSPB8 that are associated with peripheral neuropathy were significantly less efficient than wild-type HSPB8 in decreasing the aggregation of both mutated ataxin 3 and P182L-HSPB1.0.0005428842010HSPB1776304100CT
rs3887412208644051806DPYDumls:C0031117BeFreeLate-onset vincristine-induced peripheral neuropathy was associated with the presence of SNPs in genes involved in absorption, distribution, metabolism, and excretion-eg, rs1413239 in DPYD (3·29, 1·47-7·37, 5·40×10(-3)) and rs3887412 in ABCC1 (3·36, 1·47-7·67, p=5·70×10(-3)).0.1202714422010ABCC11616081173AT
rs3887412208644054363ABCC1umls:C0031117BeFreeLate-onset vincristine-induced peripheral neuropathy was associated with the presence of SNPs in genes involved in absorption, distribution, metabolism, and excretion-eg, rs1413239 in DPYD (3·29, 1·47-7·37, 5·40×10(-3)) and rs3887412 in ABCC1 (3·36, 1·47-7·67, p=5·70×10(-3)).0.1202714422010ABCC11616081173AT
rs397507444239108114524MTHFRumls:C0031117BeFreeWe found bilateral peripheral neuropathy, persistent aPL and elevated Lp(a) level and heterozygous A1298C/MTHFR mutation.0.1205428842013MTHFR111794407TG
rs397515323232973655165PDK3umls:C0031117BeFreeOur findings suggest a reduced pyruvate flux due to R158H mutant PDK3-mediated hyper-phosphorylation of the PDC as the underlying pathogenic cause of peripheral neuropathy.0.0002714422013PDK3X24503479GA
rs4630214357192952GSTT1umls:C0031117BeFreeFinally, polymorphism in GSTT1 (rs4630) was associated with a lower frequency of thalidomide-induced peripheral neuropathy (p=0.04).0.0050055062011NANANANANA
rs492338247061679619ABCG1umls:C0031117BeFreeOne intronic SNP in ABCG1 (rs492338) surpassed the exploratory significance threshold for an association with PIPN in the Caucasian cohort (p = 0.0008) but not in the non-Caucasian replication group (p = 0.54).0.0002714422014ABCG12142281867AG
rs74315316197553822707GJB3umls:C0031117BeFreeThe Cx31 mutants (R42P)Cx31, (C86S)Cx31 and (G12D)Cx31 are associated with EKV and the mutant (66delD)Cx31 with peripheral neuropathy and hearing loss, however the mechanisms of pathogenesis remain to be elucidated.0.1210857672009GJB3;LOC105378643134784797GA
rs74315317197553822707GJB3umls:C0031117BeFreeThe Cx31 mutants (R42P)Cx31, (C86S)Cx31 and (G12D)Cx31 are associated with EKV and the mutant (66delD)Cx31 with peripheral neuropathy and hearing loss, however the mechanisms of pathogenesis remain to be elucidated.0.1210857672009GJB3;LOC105378643134785018TA,C
rs74315321197553822707GJB3umls:C0031117BeFreeThe Cx31 mutants (R42P)Cx31, (C86S)Cx31 and (G12D)Cx31 are associated with EKV and the mutant (66delD)Cx31 with peripheral neuropathy and hearing loss, however the mechanisms of pathogenesis remain to be elucidated.0.1210857672009GJB3;LOC105378643134784887GA,C
rs7431540186982345621PRNPumls:C0031117BeFreeBesides occasional PrP plaques and modest spongiform degeneration, Tg(MoPrP-P101L) mice suffered from a myopathy and a peripheral neuropathy.0.0010857671996PRNP204699525CT
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 1458
Disease neuropathy, peripheral
Case(Waiting for update.)