C0022797

Adult Neuronal Ceroid Lipofuscinosis

CLN6

C0023014

Language Development Disorders

DPYD, ERF, GRIN2A, PTEN, NRXN1

C0023015

Language Disorders

DRD2, ANKK1

C0023186

Learning Disorders

SIGMAR1, HMOX1, HTR7, APOD, APP, IL1B, IL1RN, MAPT, PARK2, PSEN1, BCL2, TH, TRH, VEGFA

C0023264

Leigh Disease

MTFMT, NDUFAF6, DLD, ECHS1, NDUFA2, NDUFS2, NDUFS4, NDUFS8, TACO1, POLG, BCS1L, SDHA, NDUFAF5, NDUFAF2

C0023380

Lethargy

ABAT, IL1B

C0023521

Globoid Cell Leukodystrophy

GALC

C0023522

Leukodystrophy, Metachromatic

ARSA

C0023806

Lipomucopolysaccharidosis

NEU1

C0024031

Low Back Pain

PLAT, SPARC

C0024408

Machado-Joseph Disease

ATXN3

C0024776

Maple Syrup Urine Disease

DBT, DLD, BCKDHA, BCKDHB

C0025261

Memory Disorders

SIGMAR1, HRH3, CHRNA7, DRD2, GABRA5, GIT1, HTR7, IGF2, APP, IL1B, INS, LNPEP, MAPT, MDK, MIF, NQO2, PARK2, PSEN1, BCL2, REL, STAT3, VEGFA

C0025286

Meningioma

CST3, CSTB, CTSL, AKT1, ALAD, HES1, NF2, PDGFB, PGR, PTEN, MLLT10

C0025289

Meningitis

CRP

C0025290

Aseptic Meningitis

ALB, IL6

C0025294

Meningococcal Meningitis

CFP, SLC11A1

C0025309

Meningoencephalitis

PLAT

C0025312

Meningomyelocele

MTHFR, SOD2, ALDH1A2

C0025958

Microcephaly

PQBP1, STAMBP, PLK4, DYNC1H1, FOXG1, WDR62, KIF5C, MIR17HG, ORC1, SLC2A1, TCF4, BUB1B, TUBG1, MFSD2A, CASK

C0026650

Movement Disorders

CNR1, DRD2, ARC, FOLR1, FOSB, HTT, NRG1, SLC12A2

C0026654

Moyamoya Disease

ACTA2

C0026769

Multiple Sclerosis

CD24, SAE1, MPHOSPH9, DLEU1, MERTK, TAGAP, CNR1, CYP27B1, KIF1B, SUMF1, HLA-DQB1, HLA-DRA, HLA-DRB1, HLA-F, ICAM1, APOE, IL1B, IL7R, IL12A, MCAM, ODF3B, TIMMDC1, POMC, AHI1, MYNN, MAPK1, ZMIZ1, HACE1, PTPRC, PVR, RNASEL, BACH2, SELE, CLSTN2, SLC11A1, SLC15A2, ZFP36L1, STAT3, SYK, TNFAIP3, VCAM1, ZNF767P, PRKRA, CBLB, CD6, ARHGEF10, CD58

C0026827

Muscle Hypotonia

ABAT, LETM1

C0026837

Muscle Rigidity

CYP2D6, NTS, PDE8B

C0026838

Muscle Spasticity

CNR1

C0026846

Muscular Atrophy

CITED2, FBXO32, CTNNB1, AKT1, GH1, GSK3B, IGF1, KCNH2

C0026847

Spinal Muscular Atrophy

DYNC1H1, TRPV4

C0026848

Myopathy

CTSB, ALB, FABP3, HINT1, HMGCR, HTR7, IL1B, INS, SMAD4, MAOA, EIF2AK4, PPARA, PYGM, TGFB1, TTN, MEGF10

C0026850

Muscular Dystrophy

COL6A1, DMD, LAMA2, SEPN1

C0026896

Myasthenia Gravis

PTPN22, HLA-B, FAS, MUSK, POMC, CFB, TNFRSF11A

C0027121

Myositis

IGHG1, IGKC, IL1RN, TARS

C0027125

Myotonia

DMPK, MBNL1

C0027126

Myotonic Dystrophy

DMPK

C0027404

Narcolepsy

CHKB, CPT1B, CTSH, HLA-DQB1, HLA-DRB1, PENK, TRB , TRH, TNFSF4, SOCS2

C0027765

Nervous System Disorder

ADRB2, CYP2C9, DHFR, DPYD, FOXG1, FOS, ID3, ASCL1, MTHFR, ATF3, NFATC2, NGF, NOTCH1, SERPINE1, PENK, TTC19, PRODH, PTGS2, BDNF, SEPP1, SHMT1, SLC2A1, SLC18A2, SLC19A1, TNF, TYMS, CASP9

C0027794

Neural Tube Defects

SPINT2, FOLR1, GLI3, INS, MTHFD1, MTHFR, NPY1R, GHRL, RRM1, CCL2, SKI

C0027796

Neuralgia

NTRK1, GAL, SCN9A, TNF, CACNA2D1, CXCR4

C0027830

Neurofibroma

SUZ12

C0027831

Neurofibromatosis 1

SPRED1, MSH2

C0027832

Neurofibromatosis 2

NF2

C0027859

Acoustic Neuroma

NF2

C0027868

Neuromuscular Diseases

TRPV4, TPI1

C0027877

Neuronal Ceroid-Lipofuscinoses

TPP1, CLN3, ATP13A2, CLN6

C0027888

Hereditary Motor And Sensory Neuropathies

DYNC1H1, EGR2, PMP22

C0027889

Hereditary Sensory And Autonomic Neuropathies

DNMT1, NGF, NTRK1

C0028860

Oculocerebrorenal Syndrome

OCRL

C0029089

Ophthalmoplegia

NPC1, MGME1

C0030193

Pain

CNR1, COMT, ADM, DRD2, EDN1, AKT1, ALB, PLCB1, HGF, NRG1, HRH1, HTR7, IL1RN, KNG1, PENK, POMC, TNF, TRH, TRPV1, CACNA2D1

C0030200

Pain, Intractable

CXCL8

C0030442

Bulbar Palsy, Progressive

SLC52A3

C0030552

Paresis

PLAT

C0030554

Paresthesia

INS, PMP22

C0030567

Parkinson Disease

GPNMB, CNTN1, COL13A1, CNKSR3, CYP2D6, CYP2E1, CYP17A1, BRINP1, NQO1, DRD2, EDN1, FBP1, FGB, ATP13A2, GPX1, GSTA4, GSTM1, GSTP1, HFE, HGF, HLA-DRA, HMOX1, HSPA1A, IGF1R, IGF2, IGF2R, IL6, INS, INSR, MAG, MAOA, MAOB, MAPT, MAP3K5, NGF, NSF, PARK2, TRAPPC2L, DDIT4, VPS35, MCCC1, SIPA1L2, RPL23A, RPS8, BDNF, SH3GL2, NUCKS1, PINK1, SLC18A2, SNCA, SOD2, SREBF1, TALDO1, TNF, WNT3, ZP3, CCDC82, RPL14, ZNF646

C0030569

Secondary Parkinson Disease

ATP13A2, PARK2, RGS2

C0031117

Peripheral Neuropathy

PARP2, ABCC5, FRY, CDK5, CDK7, ABCC4, MERTK, IFI44, NPC2, SMC2, IGF2BP3, TCFL5, LILRB1, PPARGC1A, DDX52, CHEK1, HELQ, MBD6, OSBPL6, TPP1, PARP1, ZNF385B, ADRB2, CDCA2, CYP8B1, CYP19A1, DAPK1, DCK, DDIT3, ZNF596, DYNC1I1, DPYD, ABCA1, EDN1, AHR, EPHX1, ERBB2, ERCC1, ERCC2, ERCC4, ESR1, ALDH1A1, DKK1, FRMD4B, PASK, COBL, FMO2, CHST5, GHR, UTP20, SLCO3A1, GPX1, GSTP1, GSTZ1, MSH6, GTF2H1, HCLS1, SOX8, HMMR, APOB, ICAM1, ID3, IFNGR2, IGF1, IGF1R, IGHG1, IL1RN, IL6, IL18, ITGB3, JUN, LAIR2, LEPR, LRP5, LTK, ARSA, MBL2, MDM2, MKI67, MN1, MRE11A, ABCC1, MIAT, MTHFR, MTR, MUTYH, MYO5A, ATF3, NEFH, NGF, TMED5, DUSP13, PIK3CG, PLAUR, PMP22, POLG, PPARD, PPIA, MFSD6, SPDL1, DUSP23, SUSD4, UACA, FANCI, KLHDC8A, NEIL3, PPP3CA, PSMB1, CASC5, PTGIS, PTGS1, KIAA1324, BAX, RORA, RRM1, CCL5, SELE, LMF1, SIM1, PINK1, RAPH1, WNK1, SLC22A5, SOD2, SOD3, SRD5A1, SRD5A2, BRCA1, BRCA2, NEK4, AURKA, TCF4, TSPO, TLR4, TNF, TRPS1, UCHL1, UCP1, VWF, ELOVL6, SHFM1, DPF3, TCF7L1, CASP9, PLXDC2, NRP1, CCNA2, EXO1, MFHAS1, CD27, ITM2A, SCARB1, MYOT, CD44, KMT2B, CDC6

C0031485

Phenylketonurias

QDPR

C0032002

Pituitary Diseases

LEPR

C0032019

Pituitary Neoplasms

CDKN1B, DRD2, AGTR1, GH1, IGF1, PRL

C0032371

Poliomyelitis

PVR

C0032768

Postherpetic Neuralgia

CXCL8, SCN9A

C0032897

Prader-Willi Syndrome

SNRPN

C0033375

Prolactinoma

PRL, BMP4, AIP

C0033788

Pseudo-Hurler Polydystrophy

GNPTAB

C0033922

Psychomotor Disorders

ABAT, FOLR1

C0034341

Pyruvate Carboxylase Deficiency Disease

PC

C0034345

Pyruvate Dehydrogenase Complex Deficiency Disease

PDHA1, PDHB

C0034372

Quadriplegia

PMP22

C0034933

Reflex, Abnormal

ABAT, PMP22

C0035258

Restless Legs Syndrome

BTBD9, MEIS1, POMC, MAP2K5, PTPRD, TF

C0035372

Rett Syndrome

EGR2

C0035934

Rubinstein-Taybi Syndrome

CREBBP, EP300

C0036457

Scrapie

ATF6, PRNP

C0036489

Sea-Blue Histiocyte Syndrome

APOE

C0036572

Seizures

SIGMAR1, CHRNA5, CHRNA7, CLU, CNR1, ADRA1B, CYP11A1, ABAT, DRD2, AGT, ALAD, FGF2, FOXG1, FOS, ALPL, GABRA5, GNB3, APOE, IL1B, IL6, IMPA1, INS, KCNJ11, LEP, LETM1, MT3, NGF, NGFR, PAM, GHRL, POLG, POMC, RBFOX1, CNNM2, PRKCD, PTGS2, MIB1, BDNF, SLC2A1, SLC6A1, SOD2, SYN2, TCF4, TRH, TSC2, SLC30A1, NRP2, CCK

C0037019

Shy-Drager Syndrome

COQ2

C0037198

Sinus Thrombosis, Intracranial

F2, MTHFR

C0037316

Sleep Deprivation

PTGS1

C0037763

Spasm

GCG

C0037769

West Syndrome

SIK1, PLCB1, HSD17B4, PIGA, POMC, ST3GAL3, TSC2

C0037771

Paraparesis, Spastic

TECPR2

C0037772

Spastic Paraplegia

CYP2U1

C0037773

Spastic Paraplegia, Hereditary

PQBP1, TECPR2, MFN2

C0037822

Speech Disorders

GRIN2A, MFSD2A

C0037917

Spina Bifida Cystica

CHRNA7

C0037926

Compression Of Spinal Cord

PLAT, CCL2, TNF

C0037928

Spinal Cord Diseases

ADA, APP, MTHFR

C0038220

Status Epilepticus

CDH2, CNR1, DMD, EIF2S1, FOS, GAP43, ANK3, HMOX1, HSPB1, IL1RN, JUN, JUNB, JUND, KCNMA1, LAMP2, MEF2C, NGF, ATP2A2, NTRK2, PTGS2, BDNF, CCL2, CCL3, SNTA1, SSTR1, SSTR5, TNF, VEGFA, CASP1, CASP8, PDXK

C0038379

Strabismus

SPG20

C0038454

Cerebrovascular Accident

ACE, EDN1, ALB, F2, F5, ALDH2, APOA1, ICAM1, IL1B, IL1RN, IL6, IRF1, ITGAV, ITGB3, MTHFR, ZFHX3, PDE4D, PLAT, PLAU, PRKAA2, PTGS2, TGFB1, TNF, TWIST1, UCP2, VKORC1, PLA2G7, HDAC9

C0038505

Sturge-Weber Syndrome

GNAQ, RASA1

C0038525

Subarachnoid Hemorrhage

ADORA1, EDN1

C0038868

Progressive Supranuclear Palsy

STX6, MAPT

C0039292

Tangier Disease

ABCA1

C0039338

Taste Disorders

FAS

C0039373

Tay-Sachs Disease

GM2A, HEXA

C0039483

Giant Cell Arteritis

PTPN22

C0039621

Tetany

CNNM2

C0040460

Toothache

NPY1R

C0040822

Tremor

ADRB2, CYP2D6, TRH