C0041341

Tuberous Sclerosis

TSC2

C0041657

Unconscious State

TRH, CCK

C0042790

Vision Disorders

CLN6

C0043019

Lateral Medullary Syndrome

FSHB

C0043121

Wernicke Encephalopathy

TKT

C0043207

Wolfram Syndrome

CISD2

C0043459

Zellweger Syndrome

HSD17B4, PEX12, PEX14, ABCD3, PEX3, PEX11B

C0079541

Holoprosencephaly

GAS1, PTCH1, TDGF1

C0080178

Spina Bifida

CFL1, CHKA, FGFR2, TXN2, PCMT1, PCYT1A, PDGFRA, PON1, CCL2

C0085084

Motor Neuron Disease

VIM

C0085136

Central Nervous System Neoplasms

TP53

C0085179

Eosinophilia-Myalgia Syndrome

HLA-DQA1, HLA-DRB1

C0085220

Cerebral Amyloid Angiopathy

APOE, APP

C0085628

Stupor

TRH

C0085636

Photophobia

ATF6

C0085655

Polymyositis

CYP27B1, IL1A, IL1B, IL6, TNF

C0086439

Hypokinesia

APOD, OPRL1

C0087012

Ataxia, Spinocerebellar

FOXC1, CIC, ATXN1, RBM17

C0149931

Migraine Disorders

EDNRA, ESR1, MEF2D, MRPL37, CNNM2, TGFB1, TGFBR2, TNF, SUV39H2, WASL

C0150055

Chronic Pain

SCN9A

C0151699

Intracranial Hemorrhages

PLAT, PLAU

C0151786

Muscle Weakness

DSCR3, CCT8, ADAMTS5, CYYR1, RCAN1, ETS2, MORC3, GABPA, C2CD2, GART, N6AMT1, DONSON, IFNAR1, IFNAR2, IFNGR2, APP, IL10RB, MIR155, NCAM2, PMP22, ATP5O, BRWD1, MIS18A, CLIC6, MRAP, MAP3K7CL, BACH1, SCAF4, JAM2, PRDM15, SH3BGR, ITSN1, SIM2, SLC5A3, SON, TIAM1, TTC3, TTN, WRB, TMEM50B, CHAF1B, RUNX1, PSMG1, CBR1, SYNJ1, PAXBP1, MYOT, ADAMTS1, CRYZL1

C0151827

Eye Pain

POMC

C0152025

Polyneuropathy

SCP2

C0152200

Achromatopsia

ATF6, RPGR

C0152426

Craniorachischisis

DACT1

C0154723

Migraine With Aura

VSTM4, NEDD4L

C0155017

Color Blindness, Blue

OPN1SW

C0162309

Adrenoleukodystrophy

HMOX1, SOD2

C0162534

Prion Diseases

PRNP

C0162666

Mitochondrial Encephalomyopathies

FARS2, NDUFS2, NDUFV2, MFF, C12orf65

C0162670

Mitochondrial Myopathies

IL1A, IL1B, IL6, TNF

C0162671

Melas Syndrome

IL1A, IL1B, NDUFS1, SOD2

C0162672

Merrf Syndrome

IL1A, IL1B

C0162674

Chronic Progressive External Ophthalmoplegia

IL1A, IL1B, POLG, SOD2

C0175683

Citrullinemia

ASS1

C0175702

Williams Syndrome

DLG4, TBL2, GTF2I, RFC2, CLIP2, BAZ1B

C0205710

Alpers Syndrome (Disorder)

POLG

C0205711

Pelizaeus-Merzbacher Disease

LMNB1, PLP1

C0205713

Roussy-Levy Syndrome (Disorder)

PMP22

C0205770

Choroid Plexus Papilloma

TP53

C0206042

Fatal Familial Insomnia

PRNP

C0206115

Wagr Syndrome

BDNF, WT1

C0206245

Amyloid Neuropathies, Familial

TTR

C0206727

Nerve Sheath Tumors

SUZ12

C0206729

Neurofibrosarcoma

MXI1, NRAS

C0220756

Niemann-Pick Disease, Type C

LIPA, NPC1

C0221054

Welander Distal Myopathy

TIA1

C0221060

Mobius Syndrome

PLXND1, REV3L

C0221355

Macrocephaly

CHD8

C0221406

Pituitary-Dependent Cushing'S Disease

GNAI2, GNAS, POMC, PPARG, AIP

C0234162

Cerebellar Dysmetria

SETX

C0235032

Neurotoxicity Syndromes

ADD3, ADRA1B, CYP3A5, NQO1, FOS, PLAT, PON1, PRKCD, SRSF5, TIMP3, CRISPLD2, CCK

C0236642

Pick Disease Of The Brain

MAPT, PSEN1

C0236811

Chronobiology Disorders

SGOL1, AHR, PPARG

C0238111

Lennox-Gastaut Syndrome

CHD2

C0238190

Inclusion Body Myositis (Disorder)

GNE

C0238288

Muscular Dystrophy, Facioscapulohumeral

CDKN1A, COL3A1, DCN, ACAN, SMCHD1, GSTT2, HSPA1B, HSPA4, LUM

C0242287

Isaacs Syndrome

HINT1

C0242422

Parkinsonian Disorders

PARP1, DCTN1, DRD2, ALDH1A1, GSR, MAPT, NGF, PARK2, POLG, PRKCD, PRL, PINK1, SLC18A2, SNCA, TH, PRKRA, ALDH1A2

C0260662

Hearing Problem

NIPBL

C0265219

Miller Dieker Syndrome

YWHAE

C0265220

Pallister-Hall Syndrome

GLI3

C0265221

Walker-Warburg Congenital Muscular Dystrophy

POMT1, B4GAT1, DAG1, FKRP, POMK, POMGNT2, LARGE

C0266484

Schizencephaly

EMX2

C0268151

Classical Galactosemia

GALT

C0268226

Type I Mucolipidosis

NEU1

C0268247

Niemann-Pick Disease, Type D

NPC1

C0268252

Late-Onset Globoid Cell Leukodystrophy

GALC

C0268255

Farber Lipogranulomatosis

ASAH1, SOD2

C0268263

Multiple Sulfatase Deficiency Disease

SUMF1

C0268275

Tay-Sachs Disease, Ab Variant

GM2A

C0268393

Familial Cerebral Amyloid Angiopathy

CST3

C0268394

Hereditary Cerebral Amyloid Angiopathy, Dutch Type

APP

C0268465

Phenylketonuria Ii

QDPR

C0268483

Tyrosinemias

FAH

C0268490

Tyrosinemia, Type I

FAH

C0268553

Hyperlysinemias

AASS

C0268556

Saccharopinuria

AASS

C0268568

Classic Maple Syrup Urine Disease

DBT, BCKDHA, BCKDHB

C0268569

Intermittent Maple Syrup Urine Disease

DBT, BCKDHA, BCKDHB

C0270612

Leukoencephalopathies

CSF1R, DPYD, MTHFR, MTR, SCP2, SPP1

C0270736

Essential Tremor

SLC1A2

C0270853

Myoclonic Epilepsy, Juvenile

JRK

C0270911

Charcot-Marie-Tooth Disease, Type Ia (Disorder)

PMP22

C0270914

Hereditary Motor And Sensory-Neuropathy Type Ii

SCN9A, WNK1

C0270952

Muscular Dystrophy, Oculopharyngeal

PABPN1

C0270972

Cornelia De Lange Syndrome

NIPBL, HDAC8, RAD21, SMC1A, SMC3

C0276226

Herpes Encephalitis

TLR3

C0278076

Behavioral Tic

SNAP25

C0282512

Landau-Kleffner Syndrome

GRIN2A

C0282513

Primary Progressive Aphasia (Disorder)

GRN

C0282527

Infantile Refsum Disease (Disorder)

PEX12, PEX14, PEX3, PEX11B

C0311375

Arsenic Poisoning

N4BP2L2, CRP, ERCC1, ERCC4, RUFY3, TNIK, GOLGA4, CXCL2, TRA2A, HSPA1B, ID2, IL1A, IL1B, IL1RN, AQP9, MTHFR, GADD45B, NDUFB8, PNP, NR4A2, PFKFB3, ZFAND6, ZNF331, PELI1, AS3MT, PTX3, CCL4, CCL20, SFPQ, SKIL, SOD2, SSBP1, TRAPPC10, TNF, TNFAIP6, TP53, UBE2E1, TAF1D, IER3, USP13, CD83, MINPP1, CD44

C0338451

Frontotemporal Dementia

GRN, MAPT, PSEN1

C0338462

Semantic Dementia

GRN, MAPT, PSEN1, VCP

C0338473

Neuroaxonal Dystrophies

TECPR2

C0338480

Common Migraine

WAPL, MEF2D, RABGAP1L

C0338503

Septo-Optic Dysplasia

FGFR1, OTX2

C0338508

Optic Atrophy, Autosomal Dominant

OPA1