C0001206

Acromegaly

GH1, GNAS, IGF1, AIP

C0002395

Alzheimer'S Disease

GPC6, SPON1, TOMM40, CELF2, CHRNA7, OSBPL1A, CLU, TPP1, NDUFAF6, CR1, CST3, CTNNA2, NKAIN2, CYP2D6, AP2A2, ACE, DMXL1, BMPER, DHCR24, DPYSL2, EIF2S1, A2M, ENO1, ESR1, F2, PRRC2C, ARC, NCS1, MTHFD1L, AMFR, PDE7B, BIN1, BZW2, GSK3B, HFE, HMOX1, APBB2, APOC1, IDE, IGF1, APOE, IGF1R, IGF2, IGF2R, APP, IL1B, INS, INPP5D, INSR, LEP, MAOB, MAPT, MPO, MTHFR, NOS3, MS4A4A, PLAU, CYCS, PPARG, FRMD4A, PRNP, PSEN1, PSEN2, FMN2, CASS4, ARHGAP20, BAX, BCL2, EXOC4, BDNF, BLMH, CSMD1, LINC01184, SLC2A4, SOD2, SORL1, TF, TFAM, TNF, TPI1, VEGFA, PPP1R3B, SAP30L, ANKRD55, PICALM, MEGF10, SPPL2A, CRADD, SQSTM1, CACNA1G, MPZL1, CD33, SLC4A8, ELMO1

C0002622

Amnesia

SIGMAR1, HRH3, GNAI1, GNAI3, APP, IL1A, IL6, NGF, POMC, PREP, TRH

C0002624

Retrograde Amnesia

PREP

C0002736

Amyotrophic Lateral Sclerosis

OPTN, SIGMAR1, OLFM4, PPARGC1A, ARAP2, METTL21A, DCTN1, DPP6, CENPV, C9orf72, ERBB4, KIFAP3, TARDBP, FUS, TNFRSF21, ANG, ANK3, TBK1, GSR, GSTP1, HNRNPA1, HOXD10, ITGA9, LAMA3, CHCHD10, NEFH, PFN1, PLA2G4A, PON1, PTGS2, ST3GAL3, SLC1A2, SLC6A1, SOD2, TIAM1, TP53, VCP, SLC25A12, INPP4B, SQSTM1, ARHGEF2, VAPB, B4GALT6, CD40LG, KIAA0513, MATR3

C0002768

Congenital Pain Insensitivity

NGF, NTRK1, SCN9A

C0002902

Anencephaly

MTHFR

C0002962

Angina Pectoris

PLAU

C0002965

Angina, Unstable

CXCL8, PAPPA, PLAU

C0003537

Aphasia

PLAT

C0003635

Apraxias

FOXP2

C0003803

Arnold Chiari Malformation

ERF

C0003862

Arthralgia

MVK

C0004134

Ataxia

EGR3, ARCN1, NPC1, SLC2A1

C0004310

Auditory Perceptual Disorders

CHRNA7

C0004604

Back Pain

PLAT

C0004782

Basal Ganglia Diseases

CYP2D6, DRD2, PDGFB, PDGFRB, PRL, SLC20A2, PDE8B

C0005697

Neurogenic Urinary Bladder

CHRM2

C0006111

Brain Diseases

LAMC3, STAMBP, CYP2A6, ALB, APP, MPO, TH, TSC2, TYMS, RNASET2

C0006118

Brain Neoplasms

CDK4, CYP2C9, DAPK1, EML4, PCNA, PON1, PTCH1, RELA, SOD2, SPP1, TGM2, VEGFA

C0007273

Carotid Artery Diseases

AGT, GSTP1, HMOX1, APOE, PLAU, CCL2, TP53, CD163

C0007274

Carotid Artery Thrombosis

ITGB3

C0007282

Carotid Stenosis

APOE

C0007286

Carpal Tunnel Syndrome

TTR

C0007370

Catalepsy

CNR1, ADORA1, DRD2, AGT, FYN, GCG, NTS, POMC, PRL, TH, TRH, CCK

C0007682

Cns Disorder

SOD2

C0007758

Cerebellar Ataxia

RPL27A

C0007760

Cerebellar Diseases

AHI1, CASK

C0007766

Intracranial Aneurysm

EDNRA, CNNM2, STARD13

C0007772

Intracranial Arteriovenous Malformation

IL6

C0007781

Intracranial Embolism And Thrombosis

PLAT, PLAU

C0007785

Cerebral Infarction

ADH1B, F2, F5, HBA1, NOS3, PLAT, PLAU

C0007786

Brain Ischemia

CEBPB, ADD3, PARP1, ACE, EGR1, ALB, F2, F5, BBC3, GPX1, HIF1A, ICAM1, IL1A, IL1B, IL1RN, IL6, IL10RB, IL12RB1, IL18, JUN, MMP9, MPO, MTHFR, NFKB1, PLAT, PLAU, CYCS, MAPK1, MAPK3, MAP2K1, PTGS2, RB1, RELA, BDNF, CCL2, CCL3, CCL4, SELE, SOD2, STAT3, TNF, TNFRSF1B, TP53, UCP2, CASP9, DYNLL1

C0007787

Transient Ischemic Attack

ADORA1, ILK, CYCS, BAD, NDRG2, SOD2, C3, CASP9

C0007789

Cerebral Palsy

POMC

C0007795

Diffuse Cerebral Sclerosis Of Schilder

POLG

C0007820

Cerebrovascular Disorders

EDN1, PLAU

C0007959

Charcot-Marie-Tooth Disease

DCTN1, DYNC1H1, SETX, KIF1B, HOXD10, DNAJB2, HSPB1, LAMA2, LMNA, PMP22, POLG, TRPV4, SBF1, REEP1, SH3TC2, ARHGEF10, MFN2

C0008489

Chorea

NKX2-1

C0009398

Color Vision Defect

ATF6

C0009421

Comatose

CYP2D6, GCG

C0009952

Febrile Convulsions

IFI44L, CD46

C0010314

Cri-Du-Chat Syndrome

SEMA5A

C0010964

Dandy-Walker Syndrome

FOXC1

C0011053

Deafness

JAG1, SMAD4, MITF, POLD1, BDNF

C0011057

Hearing Loss, Sudden

MTHFR

C0011195

Dejerine-Sottas Disease (Disorder)

EGR2, PMP22

C0011269

Dementia, Vascular

SYK

C0011303

Demyelinating Diseases

IGF1, PMP22, TP53

C0011633

Dermatomyositis

HLA-B, IL1A, IL1B, TNF

C0011882

Diabetic Neuropathies

CHRM2, HGF, INSR, MME, MMP2, MMP9, TGFB1, TLR4

C0013080

Down Syndrome

DSCR3, CCT8, ADAMTS5, CYYR1, RCAN1, ETS2, MORC3, GABPA, C2CD2, GART, N6AMT1, GSTM2, DONSON, IFNAR1, IFNAR2, IFNGR2, APP, CXCL8, IL10RB, MIR155, MTHFR, MTR, NCAM2, ATP5O, BRWD1, MIS18A, CLIC6, MRAP, MAP3K7CL, BACH1, SCAF4, JAM2, S100B, PRDM15, SH3BGR, ITSN1, SIM2, SLC5A3, SLC19A1, SON, PRDX2, TIAM1, TTC3, WRB, TMEM50B, CHAF1B, RUNX1, PSMG1, CBR1, SYNJ1, PAXBP1, ADAMTS1, PRDX6, CRYZL1

C0013261

Duane Retraction Syndrome

CHN1

C0013264

Muscular Dystrophy, Duchenne

POSTN, DMD, CCL2, TGFB1, CD4

C0013362

Dysarthria

NPC1, PDE8B

C0013364

Dysautonomia, Familial

IKBKAP

C0013384

Dyskinetic Syndrome

DRD2

C0013386

Dyskinesia, Drug-Induced

DRD2, FOSB, PENK, TH, CCK, HOMER1

C0013421

Dystonia

CYP2D6, TOR1A, CIZ1, THAP1, ACTB, SCP2, TH, PRKRA

C0014067

Occipital Encephalocele

DACT1

C0014072

Experimental Autoimmune Encephalomyelitis

PPARA, CBLB

C0014544

Epilepsy

STAMBP, CHD2, CHRM2, CHRM3, RAB39B, AKT1, ERN1, ALB, FLNA, CAMSAP2, FOLR1, FOS, FOSB, GPX1, GRIN2A, ILK, MAST4, MEF2C, MMP8, NPY2R, P2RX4, POLG, POMC, PCDH19, PTPRD, BDNF, SLC1A2, SLC1A3, SLC12A2, TSC2, TXNRD1, VDAC2, SPARCL1, SYNGAP1

C0014547

Epilepsies, Partial

ADCY9

C0014548

Epilepsy, Generalized

CHRNA7, JRK

C0014549

Tonic-Clonic Epilepsy

NES, CYP2D6, HBEGF, FGF2, NGF, POMC, BDNF

C0014550

Epilepsies, Myoclonic

PMP22, POMC, STXBP1

C0014553

Absence Epilepsy

JRK

C0014556

Epilepsy, Temporal Lobe

CNR1, GRM3, NPY2R, P2RX4, SLC12A2, TEK, VDR, VEGFA, TRPV1, SLIT2

C0015469

Facial Paralysis

POMC

C0016667

Fragile X Syndrome

FMR1, AFF2, APP

C0016719

Friedreich Ataxia

FXN

C0016788

Fucosidase Deficiency Disease

FUCA1

C0016952

Galactosemias

GALE, GALT

C0017205

Gaucher Disease

CHIT1, ACE, SNCA

C0017495

Gerstmann-Straussler-Scheinker Disease

PRNP

C0017921

Glycogen Storage Disease Type Ii

GAA

C0018378

Guillain-Barre Syndrome

PMP22

C0018523

Hallervorden-Spatz Syndrome

PANK2

C0018524

Hallucinations

HOMER1

C0018681

Headache

GNRH1, IL6

C0018781

Noise-Induced Hearing Loss

TAOK1

C0018784

Sensorineural Hearing Loss (Disorder)

COL9A1, COL11A2, LRP2, ACTB, FADD

C0018946

Hematoma, Subdural

PLAT

C0018991

Hemiplegia

CGA

C0019151

Hepatic Encephalopathy

GC, MAOA, MAOB, PRKDC, TSPO, TNF

C0019202

Hepatolenticular Degeneration

AHCY, A2M, ANXA5, APOE, IL6, CXCL8, IL10, LOX, LOXL2, NDUFB7, PPP3CA, PRNP, HAMP, SNCA, TIMP1, TNF

C0019880

Homocystinuria

CBS

C0020071

Hereditary Sensory Autonomic Neuropathy, Type 1

ATL3, SPTLC2

C0020074

Hsan Type Iv

NTRK1

C0020075

Hereditary Sensory Autonomic Neuropathy, Type 5

NGF, NTRK1, SCN9A

C0020179

Huntington Disease

CNR1, RCAN1, HTT, MAOA, MAOB, IP6K2, SLC2A3, AIFM1

C0020225

Hydranencephaly

NDE1

C0020255

Hydrocephalus

IFT122

C0020429

Hyperalgesia

CNR1, ADM, CSK, AGT, EDN1, ALOX5, IGF1, IL1A, IL1B, IL1RN, IL6, CXCL8, IL10, INSR, ITGA2, KNG1, NGF, TNFRSF11B, GAL, MAPK1, MAPK3, MAPK7, PTGS1, PTGS2, PTHLH, RAF1, TRPV4, CCL2, SPARC, SYN2, TNF, TRPV1, CACNA2D1, CCKBR, CARTPT

C0020514

Hyperprolactinemia

DRD2, GNRH1, LHB, PRL, PRLR

C0020635

Hypopituitarism

CYP17A1, CYP19A1, PRL

C0020725

Type Ii Mucolipidosis

GNPTAB

C0020796

Profound Mental Retardation

MTR

C0022336

Creutzfeldt-Jakob Disease

MSL3P1, ALDH1A1, ATF6, HLA-DQB1, PRNP, TUBB2A, HIST1H4A

C0022541

Kearns-Sayre Syndrome

IL1A, IL1B