C0338575

Sagittal Sinus Thrombosis

F5, PLAU

C0340288

Stable Angina

MMP9, TLR4, TNF

C0342731

Deficiency Of Mevalonate Kinase

MVK

C0342853

Sialuria

GNE

C0346302

Growth Hormone-Secreting Pituitary Adenoma

GH1, GNAS, PRL, SSTR5, AIP

C0349464

Wernicke-Korsakoff Syndrome

TKT

C0376532

Epilepsy, Rolandic

GRIN2A

C0393540

Childhood Progressive Bulbar Palsy

SLC52A3

C0393547

Bulbospinal Neuronopathy

AR

C0393584

Benign Hereditary Chorea

NKX2-1

C0393593

Dystonia Disorders

TOR1A, THAP1, PRKRA

C0393626

Opsoclonus-Myoclonus Syndrome

POMC

C0393665

Multiple Sclerosis, Chronic Progressive

HNRNPA1

C0394016

Coma, Post-Head Injury

TRH

C0398691

Hyperimmunoglobulinemia D

MVK

C0410189

Muscular Dystrophy, Emery-Dreifuss

EMD, SYNE2, LMNA

C0410190

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (Disorder)

SYNE2, LMNA, TMEM43

C0410203

X-Linked Centronuclear Myopathy

MAMLD1, MTM1

C0424295

Hyperactive Behavior

DRD2, FOS, GABBR1, GCG, GIT1, HTR2C, NGF, NTRK2, NTS, TH, CCK

C0431362

Lobar Holoprosencephaly

GAS1, GLI2, PTCH1, TDGF1, DISP1

C0431363

Alobar Holoprosencephaly

GAS1, GLI2, PTCH1, TDGF1, DISP1

C0431391

Hemimegalencephaly

AKT3, PIK3CA

C0457133

Muscle Eye Brain Disease

POMT1, GMPPB, FKRP, LARGE

C0476254

Dyslexia

DCDC2

C0497327

Dementia

OSBPL1A, DNMT1, GRN, APP, MAPT

C0497552

Congenital Neurologic Anomalies

SPRED1, HOXA1, ACTB, ACTG1

C0520679

Sleep Apnea, Obstructive

EDNRA

C0522224

Paralysed

APP, INS, TRPM7

C0524851

Neurodegenerative Disorders

CRYAB, FTH1, GPX3, GSR, GSTM1, GSTM2, GSTM4, HMOX1, APOD, APP, IL6, MAPT, MGST1, NGF, NGFR, SERPINA1, PKD2, TTC19, PSEN1, AGPAT3, SEPP1, SNCA, SOD2, VIM, PANK2, PDE8B, KYNU, GSTO1

C0525041

Neurobehavioral Manifestations

CHRNA7, FKBP5, NGF

C0543859

Amyotrophic Lateral Sclerosis, Guam Form

TRPM7

C0546127

Mercury Poisoning, Nervous System

JUN

C0546264

Congenital Fiber Type Disproportion

SEPN1, TPM2, TPM3, HACD1

C0553586

Cafe-Au-Lait Macules With Pulmonary Stenosis

MAP2K2

C0586323

Alcohol Withdrawal Seizures

SLC29A1

C0600467

Neurogenic Inflammation

CIRBP, APP, MCAM, NGF, POMC, PTGS2, TNF

C0677050

Manganese Poisoning

SLC31A1, CYP2D6, ATP13A2, HTT, IL1B, PARK2, SNCA, BNIP3, TNF

C0677866

Brain Stem Neoplasms

CDK4, CDK6

C0686353

Muscular Dystrophies, Limb-Girdle

DNAJB6, LMNA

C0700501

Congenital Nystagmus

AHR, ATF6

C0740392

Infarction, Middle Cerebral Artery

ADORA1, EDN1, FOS, ALOX5, CXCL2, HSPD1, ICAM1, IL6, IL6ST, JUNB, MMP9, ATF3, NGF, PLAT, PLAU, PLD1, CCL2, SOD2, STAT3, TNFAIP6, C3, XDH, SERPINH1

C0750927

Apraxia, Developmental Verbal

FOXP2

C0751036

Hereditary Motor And Sensory Neuropathy Type I

PMP22

C0751038

Cockayne Syndrome, Type Ii

ERCC1

C0751039

Cockayne Syndrome, Type I

ERCC4

C0751072

Frontotemporal Lobar Degeneration

SIGMAR1, TARDBP, GRN, TMEM106B

C0751083

Duane Retraction Syndrome, Type 2

CHN1

C0751156

Fraxa Syndrome

FMR1

C0751157

Fraxe Syndrome

AFF2, SERPINA1

C0751161

Udpglucose 4-Epimerase Deficiency Disease

GALE

C0751173

Glycogen Storage Disease Type Ii, Infantile

GAA

C0751202

Cystathionine Beta-Synthase Deficiency Disease

CBS

C0751208

Juvenile Huntington Disease

HTT

C0751273

Infantile Globoid Cell Leukodystrophy

GALC, PSAP

C0751276

Metachromatic Leukodystrophy, Juvenile Type

ARSA, PSAP

C0751278

Metachromatic Leukodystrophy, Infant

ARSA

C0751279

Metachromatic Leukodystrophy, Adult-Type (Disorder)

ARSA, PSAP

C0751335

Scapuloperoneal Form Of Spinal Muscular Atrophy

TRPV4

C0751336

Distal Muscular Dystrophies

TTN, MATR3

C0751337

X-Linked Emery-Dreifuss Muscular Dystrophy

EMD, FHL1

C0751362

Narcolepsy-Cataplexy Syndrome

CTSH, HLA-DQB1, HLA-DRB1, TNFSF4

C0751383

Juvenile Neuronal Ceroid Lipofuscinosis

CLN3

C0751617

Semilobar Holoprosencephaly

GAS1, GLI2, PTCH1, TDGF1, DISP1

C0751668

Machado-Joseph Disease Type I

ATXN3

C0751669

Machado-Joseph Disease Type Ii

ATXN3

C0751670

Machado-Joseph Disease Type Iii

ATXN3

C0751706

Primary Progressive Nonfluent Aphasia

GRN, MAPT, PSEN1, VCP

C0751748

Nonketotic Hyperglycinemia

GCSH

C0751778

Myoclonic Epilepsies, Progressive

ATN1, NEU1, SERPINI1, CLN6, PRNP, EPM2A

C0751781

Dentatorubral-Pallidoluysian Atrophy

ATN1

C0751783

Lafora Disease

EPM2A

C0751785

Unverricht-Lundborg Syndrome

PRICKLE1, CSTB

C0751830

Gait Disorders, Neurologic

TTC19

C0751859

Lead Poisoning, Nervous System

ALAD

C0751865

Alcohol-Induced Disorders, Nervous System

CIRBP

C0751870

Heredodegenerative Disorders, Nervous System

CYGB, FTL, NGB

C0751871

Autoimmune Diseases Of The Nervous System

MCAM

C0751895

Vasospasm, Intracranial

PLAT, S100A4, S100A6, S100B

C0751915

Pelizaeus-Merzbacher Disease, Atypical

PLP1

C0751916

Classic Pelizaeus-Merzbacher Disease

PLP1

C0751917

Pelizaeus-Merzbacher Disease, Transitional

PLP1

C0751955

Brain Infarction

CYBB, FGF2, PLAT

C0751967

Multiple Sclerosis, Relapsing-Remitting

HNRNPA1, APOE

C0752109

Brain Diseases, Metabolic, Inborn

FOLR1, NDUFAF2

C0752120

Spinocerebellar Ataxia Type 1

ATXN1

C0752143

Intracranial Thrombosis

SERPINC1, PLAT, VWF

C0752160

Hemangioma, Cavernous, Central Nervous System

CCM2, KRIT1

C0752166

Bardet-Biedl Syndrome

SDCCAG8, IFT27, TTC8, BBS12, NPHP1, MKS1, BBS7, BBS1, BBS2, BBS10, MKKS, BBIP1

C0752252

Neuromuscular Manifestations

SNAP25, TPI1

C0752282

Congenital Structural Myopathy

BIN1, MTM1

C0752308

Hypoxia-Ischemia, Brain

HIF1A, IRAK1, VEGFA

C0752347

Lewy Body Disease

EDN1, APOE, IGF1R, IGF2, IGF2R, INS, INSR, MAG, NGF, NTRK1, NTRK2, SNCA, SOD2

C0752353

Atrophy, Muscular, Spinobulbar

AR

C0796147

Acrocallosal Syndrome

FOXG1, GLI3

C0872084

Sarcopenia

SUPV3L1

C0878677

Glycogen Storage Disease Type Iib

LAMP2

C0917713

Becker Muscular Dystrophy

DMD

C0917796

Optic Atrophy, Hereditary, Leber

IL1A, IL1B

C0917799

Hypersomnia

LINC02112

C0917817

Neurofibromatosis 3

NF2