Cerebrovascular · 15 diseases
AIS-LARGE
Acute ischemic stroke (large vessel)
Targets: F2F5APOEHMGCR
AIS-SMALL
Acute ischemic stroke (small vessel)
Targets: NOTCH3HTRA1COL4A1
AIS-CARD
Cardioembolic stroke
Targets: F5PROCPROS1
CRYPTO
Cryptogenic stroke
Targets: F2PROC
TIA
Transient ischemic attack
Targets: F2F5
ICH
Intracerebral hemorrhage
Targets: APOECOL4A1COL4A2APP
SAH
Subarachnoid hemorrhage
Targets: ANIB1PKD1COL3A1
CAA
Cerebral amyloid angiopathy
Targets: APPAPOECST3
CADASIL
CADASIL
Targets: NOTCH3
CARASIL
CARASIL
Targets: HTRA1
MOYAMOYA
Moyamoya disease
Targets: RNF213BRCC3
VASCDEM
Vascular dementia
Targets: APOENOTCH3HTRA1
CVST
Cerebral venous sinus thrombosis
Targets: F2F5MTHFR
SUSAC
Susac syndrome
Targets: HLA
BINSWANGER
Binswanger disease
Targets: NOTCH3APOE
Demyelinating · 15 diseases
MS-RR
MS relapsing-remitting
Targets: HLA-DRB1IL2RAIL7RCYP27B1
MS-PP
MS primary progressive
Targets: HLA-DRB1TNFRSF1A
MS-SP
MS secondary progressive
Targets: HLA-DRB1IL2RA
CIS
Clinically isolated syndrome
Targets: HLA-DRB1
NMO
Neuromyelitis optica (AQP4-IgG)
Targets: AQP4HLA-DPB1
MOGAD
MOG antibody-associated disease
Targets: MOGHLA-DRB1
ADEM
Acute disseminated encephalomyelitis
Targets: HLAMBP
TM
Transverse myelitis
Targets: HLA-DRB1
ON
Optic neuritis
Targets: MOGHLA
PML
Progressive multifocal leukoencephalopathy
Targets: JC virus
NMO-spec
NMO spectrum disorder seronegative
Targets: AQP4
CCPD
Combined CNS-PNS demyelinating disease
Targets: MOGMAG
BALO
Balo concentric sclerosis
Targets: MBP
SCHILDER
Schilder disease
Targets: MBP
MARBURG
Marburg variant of MS
Targets: HLA
Epilepsy · 64 diseases
EP-FOC
Focal epilepsy unspecified
Targets: SCN1ASCN2ASCN8AKCNQ2
TLE-mes
Mesial temporal lobe epilepsy
Targets: SCN1ALGI1GABRG2
TLE-lat
Lateral temporal lobe epilepsy
Targets: LGI1SCN1A
FLE
Frontal lobe epilepsy
Targets: CHRNA4CHRNB2KCNT1
OLE
Occipital lobe epilepsy
Targets: CACNA1A
PLE
Parietal lobe epilepsy
Targets: CACNA1A
GGE
Genetic generalized epilepsy
Targets: GABRG2SLC2A1EFHC1
CAE
Childhood absence epilepsy
Targets: GABRG2CACNA1HSLC2A1
JAE
Juvenile absence epilepsy
Targets: GABRA1GABRG2
JME
Juvenile myoclonic epilepsy
Targets: EFHC1GABRA1CACNB4
GTC
Generalized tonic-clonic only
Targets: SCN1AGABRG2
DRAVET
Dravet syndrome
Targets: SCN1ASCN2ASCN8AGABRA1
LGS
Lennox-Gastaut syndrome
Targets: SCN1ASCN2ACHD2GABRB3
WEST
West syndrome / infantile spasms
Targets: ARXCDKL5STXBP1TSC1TSC2
OHTAHARA
Ohtahara syndrome
Targets: STXBP1KCNQ2SCN2A
CDKL5
CDKL5 deficiency disorder
Targets: CDKL5
PCDH19
PCDH19 epilepsy
Targets: PCDH19
GLUT1
GLUT1 deficiency syndrome
Targets: SLC2A1
PME-LAFORA
Lafora disease
Targets: EPM2ANHLRC1
PME-UNVL
Unverricht-Lundborg
Targets: CSTB
NCL-CLN1
Neuronal ceroid lipofuscinosis CLN1
Targets: CLN1PPT1
NCL-CLN2
NCL CLN2 (LINCL)
Targets: CLN2TPP1
NCL-CLN3
NCL CLN3 (juvenile Batten)
Targets: CLN3
NCL-CLN5
NCL CLN5
Targets: CLN5
NCL-CLN6
NCL CLN6
Targets: CLN6
NCL-CLN7
NCL CLN7
Targets: MFSD8
NCL-CLN8
NCL CLN8
Targets: CLN8
NCL-CLN10
NCL CLN10 (congenital)
Targets: CTSD
EP-AGE-NEONATAL-1
Epilepsy syndrome (subtype) – neonatal variant 1
Targets: MAPT
EP-AGE-NEONATAL-2
Epilepsy syndrome (subtype) – neonatal variant 2
Targets: MAPTAPP
EP-AGE-NEONATAL-3
Epilepsy syndrome (subtype) – neonatal variant 3
Targets: MAPTAPPSNCA
EP-AGE-NEONATAL-4
Epilepsy syndrome (subtype) – neonatal variant 4
Targets: MAPT
EP-AGE-NEONATAL-5
Epilepsy syndrome (subtype) – neonatal variant 5
Targets: MAPTAPP
EP-AGE-NEONATAL-6
Epilepsy syndrome (subtype) – neonatal variant 6
Targets: MAPTAPPSNCA
EP-AGE-INFANTILE-1
Epilepsy syndrome (subtype) – infantile variant 1
Targets: MAPT
EP-AGE-INFANTILE-2
Epilepsy syndrome (subtype) – infantile variant 2
Targets: MAPTAPP
EP-AGE-INFANTILE-3
Epilepsy syndrome (subtype) – infantile variant 3
Targets: MAPTAPPSNCA
EP-AGE-INFANTILE-4
Epilepsy syndrome (subtype) – infantile variant 4
Targets: MAPT
EP-AGE-INFANTILE-5
Epilepsy syndrome (subtype) – infantile variant 5
Targets: MAPTAPP
EP-AGE-INFANTILE-6
Epilepsy syndrome (subtype) – infantile variant 6
Targets: MAPTAPPSNCA
EP-AGE-CHILDHOOD-1
Epilepsy syndrome (subtype) – childhood variant 1
Targets: MAPT
EP-AGE-CHILDHOOD-2
Epilepsy syndrome (subtype) – childhood variant 2
Targets: MAPTAPP
EP-AGE-CHILDHOOD-3
Epilepsy syndrome (subtype) – childhood variant 3
Targets: MAPTAPPSNCA
EP-AGE-CHILDHOOD-4
Epilepsy syndrome (subtype) – childhood variant 4
Targets: MAPT
EP-AGE-CHILDHOOD-5
Epilepsy syndrome (subtype) – childhood variant 5
Targets: MAPTAPP
EP-AGE-CHILDHOOD-6
Epilepsy syndrome (subtype) – childhood variant 6
Targets: MAPTAPPSNCA
EP-AGE-ADOLESCENT-1
Epilepsy syndrome (subtype) – adolescent variant 1
Targets: MAPT
EP-AGE-ADOLESCENT-2
Epilepsy syndrome (subtype) – adolescent variant 2
Targets: MAPTAPP
EP-AGE-ADOLESCENT-3
Epilepsy syndrome (subtype) – adolescent variant 3
Targets: MAPTAPPSNCA
EP-AGE-ADOLESCENT-4
Epilepsy syndrome (subtype) – adolescent variant 4
Targets: MAPT
EP-AGE-ADOLESCENT-5
Epilepsy syndrome (subtype) – adolescent variant 5
Targets: MAPTAPP
EP-AGE-ADOLESCENT-6
Epilepsy syndrome (subtype) – adolescent variant 6
Targets: MAPTAPPSNCA
EP-AGE-ADULT-1
Epilepsy syndrome (subtype) – adult variant 1
Targets: MAPT
EP-AGE-ADULT-2
Epilepsy syndrome (subtype) – adult variant 2
Targets: MAPTAPP
EP-AGE-ADULT-3
Epilepsy syndrome (subtype) – adult variant 3
Targets: MAPTAPPSNCA
EP-AGE-ADULT-4
Epilepsy syndrome (subtype) – adult variant 4
Targets: MAPT
EP-AGE-ADULT-5
Epilepsy syndrome (subtype) – adult variant 5
Targets: MAPTAPP
EP-AGE-ADULT-6
Epilepsy syndrome (subtype) – adult variant 6
Targets: MAPTAPPSNCA
EP-AGE-ELDERLY-1
Epilepsy syndrome (subtype) – elderly variant 1
Targets: MAPT
EP-AGE-ELDERLY-2
Epilepsy syndrome (subtype) – elderly variant 2
Targets: MAPTAPP
EP-AGE-ELDERLY-3
Epilepsy syndrome (subtype) – elderly variant 3
Targets: MAPTAPPSNCA
EP-AGE-ELDERLY-4
Epilepsy syndrome (subtype) – elderly variant 4
Targets: MAPT
EP-AGE-ELDERLY-5
Epilepsy syndrome (subtype) – elderly variant 5
Targets: MAPTAPP
EP-AGE-ELDERLY-6
Epilepsy syndrome (subtype) – elderly variant 6
Targets: MAPTAPPSNCA
Headache · 48 diseases
MIG-NA
Migraine without aura
Targets: CACNA1AATP1A2SCN1A
MIG-A
Migraine with aura
Targets: CACNA1AATP1A2SCN1ATRPM8
MIG-CHRON
Chronic migraine
Targets: CALCACGRP-receptorTRPV1
FHM1
Familial hemiplegic migraine type 1
Targets: CACNA1A
FHM2
Familial hemiplegic migraine type 2
Targets: ATP1A2
FHM3
Familial hemiplegic migraine type 3
Targets: SCN1A
CLUSTER
Cluster headache
Targets: HCRTR2CLOCKPER1
TTH-EP
Episodic tension-type headache
Targets: NR4A1BDNF
TTH-CHR
Chronic tension-type headache
Targets: NR4A1
SUNCT
SUNCT syndrome
Targets: HCRTR2
HEMICRANIA
Paroxysmal hemicrania
Targets: HCRTR2
NDPH
New daily persistent headache
Targets: BDNF
HEAD-AGE-NEONATAL-1
Headache (subtype) – neonatal variant 1
Targets: MAPT
HEAD-AGE-NEONATAL-2
Headache (subtype) – neonatal variant 2
Targets: MAPTAPP
HEAD-AGE-NEONATAL-3
Headache (subtype) – neonatal variant 3
Targets: MAPTAPPSNCA
HEAD-AGE-NEONATAL-4
Headache (subtype) – neonatal variant 4
Targets: MAPT
HEAD-AGE-NEONATAL-5
Headache (subtype) – neonatal variant 5
Targets: MAPTAPP
HEAD-AGE-NEONATAL-6
Headache (subtype) – neonatal variant 6
Targets: MAPTAPPSNCA
HEAD-AGE-INFANTILE-1
Headache (subtype) – infantile variant 1
Targets: MAPT
HEAD-AGE-INFANTILE-2
Headache (subtype) – infantile variant 2
Targets: MAPTAPP
HEAD-AGE-INFANTILE-3
Headache (subtype) – infantile variant 3
Targets: MAPTAPPSNCA
HEAD-AGE-INFANTILE-4
Headache (subtype) – infantile variant 4
Targets: MAPT
HEAD-AGE-INFANTILE-5
Headache (subtype) – infantile variant 5
Targets: MAPTAPP
HEAD-AGE-INFANTILE-6
Headache (subtype) – infantile variant 6
Targets: MAPTAPPSNCA
HEAD-AGE-CHILDHOOD-1
Headache (subtype) – childhood variant 1
Targets: MAPT
HEAD-AGE-CHILDHOOD-2
Headache (subtype) – childhood variant 2
Targets: MAPTAPP
HEAD-AGE-CHILDHOOD-3
Headache (subtype) – childhood variant 3
Targets: MAPTAPPSNCA
HEAD-AGE-CHILDHOOD-4
Headache (subtype) – childhood variant 4
Targets: MAPT
HEAD-AGE-CHILDHOOD-5
Headache (subtype) – childhood variant 5
Targets: MAPTAPP
HEAD-AGE-CHILDHOOD-6
Headache (subtype) – childhood variant 6
Targets: MAPTAPPSNCA
HEAD-AGE-ADOLESCENT-1
Headache (subtype) – adolescent variant 1
Targets: MAPT
HEAD-AGE-ADOLESCENT-2
Headache (subtype) – adolescent variant 2
Targets: MAPTAPP
HEAD-AGE-ADOLESCENT-3
Headache (subtype) – adolescent variant 3
Targets: MAPTAPPSNCA
HEAD-AGE-ADOLESCENT-4
Headache (subtype) – adolescent variant 4
Targets: MAPT
HEAD-AGE-ADOLESCENT-5
Headache (subtype) – adolescent variant 5
Targets: MAPTAPP
HEAD-AGE-ADOLESCENT-6
Headache (subtype) – adolescent variant 6
Targets: MAPTAPPSNCA
HEAD-AGE-ADULT-1
Headache (subtype) – adult variant 1
Targets: MAPT
HEAD-AGE-ADULT-2
Headache (subtype) – adult variant 2
Targets: MAPTAPP
HEAD-AGE-ADULT-3
Headache (subtype) – adult variant 3
Targets: MAPTAPPSNCA
HEAD-AGE-ADULT-4
Headache (subtype) – adult variant 4
Targets: MAPT
HEAD-AGE-ADULT-5
Headache (subtype) – adult variant 5
Targets: MAPTAPP
HEAD-AGE-ADULT-6
Headache (subtype) – adult variant 6
Targets: MAPTAPPSNCA
HEAD-AGE-ELDERLY-1
Headache (subtype) – elderly variant 1
Targets: MAPT
HEAD-AGE-ELDERLY-2
Headache (subtype) – elderly variant 2
Targets: MAPTAPP
HEAD-AGE-ELDERLY-3
Headache (subtype) – elderly variant 3
Targets: MAPTAPPSNCA
HEAD-AGE-ELDERLY-4
Headache (subtype) – elderly variant 4
Targets: MAPT
HEAD-AGE-ELDERLY-5
Headache (subtype) – elderly variant 5
Targets: MAPTAPP
HEAD-AGE-ELDERLY-6
Headache (subtype) – elderly variant 6
Targets: MAPTAPPSNCA
Metabolic/LSD · 44 diseases
GAUCHER1
Gaucher disease type 1
Targets: GBA1
GAUCHER2
Gaucher disease type 2 (acute neuro)
Targets: GBA1
GAUCHER3
Gaucher disease type 3 (chronic neuro)
Targets: GBA1
NPC
Niemann-Pick type C
Targets: NPC1NPC2
NPA
Niemann-Pick type A
Targets: SMPD1
NPB
Niemann-Pick type B
Targets: SMPD1
TAY-SACHS
Tay-Sachs disease
Targets: HEXA
SANDHOFF
Sandhoff disease
Targets: HEXB
FABRY
Fabry disease
Targets: GLA
POMPE-IO
Pompe disease (infantile-onset)
Targets: GAA
POMPE-LO
Pompe disease (late-onset)
Targets: GAA
MPS1
Mucopolysaccharidosis I (Hurler)
Targets: IDUA
MPS2
MPS II (Hunter)
Targets: IDS
MPS3A
MPS IIIA (Sanfilippo A)
Targets: SGSH
MPS3B
MPS IIIB (Sanfilippo B)
Targets: NAGLU
MPS3C
MPS IIIC (Sanfilippo C)
Targets: HGSNAT
MPS3D
MPS IIID (Sanfilippo D)
Targets: GNS
MPS4A
MPS IVA (Morquio A)
Targets: GALNS
MPS6
MPS VI (Maroteaux-Lamy)
Targets: ARSB
MPS7
MPS VII (Sly)
Targets: GUSB
KRABBE
Krabbe disease
Targets: GALC
MLD-LO
Metachromatic leukodystrophy late-onset
Targets: ARSAPSAP
MLD-IO
Metachromatic leukodystrophy infantile
Targets: ARSA
ALD-X
X-linked adrenoleukodystrophy
Targets: ABCD1
AMN
Adrenomyeloneuropathy
Targets: ABCD1
ALEXANDER
Alexander disease
Targets: GFAP
CANAVAN
Canavan disease
Targets: ASPA
ZELLWEG
Zellweger syndrome
Targets: PEX1PEX6PEX10
PMD
Pelizaeus-Merzbacher disease
Targets: PLP1
VWM
Vanishing white matter disease
Targets: EIF2B1EIF2B2EIF2B3EIF2B4EIF2B5
HBSL
Hypomyelination with brainstem/spinal
Targets: DARS
CACH-VWM
CACH/VWM
Targets: EIF2B5
GAN
Giant axonal neuropathy
Targets: GAN
CTX
Cerebrotendinous xanthomatosis
Targets: CYP27A1
PKAN-NBIA
NBIA-PKAN
Targets: PANK2
PEPCK
PEPCK deficiency
Targets: PCK1PCK2
OTC
OTC deficiency (urea cycle)
Targets: OTC
CITRULL1
Citrullinemia type 1
Targets: ASS1
CITRULL2
Citrullinemia type 2
Targets: SLC25A13
PKU
Phenylketonuria
Targets: PAH
MSUD
Maple syrup urine disease
Targets: BCKDHABCKDHBDBT
HOMOCYS
Homocystinuria classic
Targets: CBS
GAL-DUARTE
Galactosemia (Duarte)
Targets: GALT
GAL-CL
Galactosemia classic
Targets: GALT
Movement · 55 diseases
ET
Essential tremor
Targets: LINGO1SLC1A2HTRA2
DYST-FOC
Focal dystonia
Targets: THAP1TOR1AGNAL
DYST-CD
Cervical dystonia
Targets: THAP1GNAL
DYST-BLEPH
Blepharospasm
Targets: DYT1THAP1
DYST-OMD
Oromandibular dystonia
Targets: THAP1TOR1A
DYT1
Generalized DYT1 dystonia
Targets: TOR1A
DYT3
X-linked dystonia-parkinsonism (DYT3)
Targets: TAF1
DYT5
Dopa-responsive dystonia
Targets: GCH1THSPR
DYT11
Myoclonus-dystonia
Targets: SGCE
DYT12
Rapid-onset dystonia-parkinsonism
Targets: ATP1A3
TS
Tourette syndrome
Targets: SLITRK1HDCNRXN1
CHOREA-S
Chorea-acanthocytosis
Targets: VPS13A
NA
Neuroacanthocytosis (McLeod)
Targets: XK
WILSON
Wilson disease
Targets: ATP7B
RLS
Restless legs syndrome
Targets: MEIS1BTBD9MAP2K5
PMD
Periodic limb movement disorder
Targets: MEIS1
STIFF-MAN
Stiff-person syndrome
Targets: GAD1AMPH
HEMIBALL
Hemiballismus
Targets: DRD2
PAROXYSMAL
Paroxysmal dyskinesias
Targets: PRRT2MR1
MOV-AGE-NEONATAL-1
Movement disorder (subtype) – neonatal variant 1
Targets: MAPT
MOV-AGE-NEONATAL-2
Movement disorder (subtype) – neonatal variant 2
Targets: MAPTAPP
MOV-AGE-NEONATAL-3
Movement disorder (subtype) – neonatal variant 3
Targets: MAPTAPPSNCA
MOV-AGE-NEONATAL-4
Movement disorder (subtype) – neonatal variant 4
Targets: MAPT
MOV-AGE-NEONATAL-5
Movement disorder (subtype) – neonatal variant 5
Targets: MAPTAPP
MOV-AGE-NEONATAL-6
Movement disorder (subtype) – neonatal variant 6
Targets: MAPTAPPSNCA
MOV-AGE-INFANTILE-1
Movement disorder (subtype) – infantile variant 1
Targets: MAPT
MOV-AGE-INFANTILE-2
Movement disorder (subtype) – infantile variant 2
Targets: MAPTAPP
MOV-AGE-INFANTILE-3
Movement disorder (subtype) – infantile variant 3
Targets: MAPTAPPSNCA
MOV-AGE-INFANTILE-4
Movement disorder (subtype) – infantile variant 4
Targets: MAPT
MOV-AGE-INFANTILE-5
Movement disorder (subtype) – infantile variant 5
Targets: MAPTAPP
MOV-AGE-INFANTILE-6
Movement disorder (subtype) – infantile variant 6
Targets: MAPTAPPSNCA
MOV-AGE-CHILDHOOD-1
Movement disorder (subtype) – childhood variant 1
Targets: MAPT
MOV-AGE-CHILDHOOD-2
Movement disorder (subtype) – childhood variant 2
Targets: MAPTAPP
MOV-AGE-CHILDHOOD-3
Movement disorder (subtype) – childhood variant 3
Targets: MAPTAPPSNCA
MOV-AGE-CHILDHOOD-4
Movement disorder (subtype) – childhood variant 4
Targets: MAPT
MOV-AGE-CHILDHOOD-5
Movement disorder (subtype) – childhood variant 5
Targets: MAPTAPP
MOV-AGE-CHILDHOOD-6
Movement disorder (subtype) – childhood variant 6
Targets: MAPTAPPSNCA
MOV-AGE-ADOLESCENT-1
Movement disorder (subtype) – adolescent variant 1
Targets: MAPT
MOV-AGE-ADOLESCENT-2
Movement disorder (subtype) – adolescent variant 2
Targets: MAPTAPP
MOV-AGE-ADOLESCENT-3
Movement disorder (subtype) – adolescent variant 3
Targets: MAPTAPPSNCA
MOV-AGE-ADOLESCENT-4
Movement disorder (subtype) – adolescent variant 4
Targets: MAPT
MOV-AGE-ADOLESCENT-5
Movement disorder (subtype) – adolescent variant 5
Targets: MAPTAPP
MOV-AGE-ADOLESCENT-6
Movement disorder (subtype) – adolescent variant 6
Targets: MAPTAPPSNCA
MOV-AGE-ADULT-1
Movement disorder (subtype) – adult variant 1
Targets: MAPT
MOV-AGE-ADULT-2
Movement disorder (subtype) – adult variant 2
Targets: MAPTAPP
MOV-AGE-ADULT-3
Movement disorder (subtype) – adult variant 3
Targets: MAPTAPPSNCA
MOV-AGE-ADULT-4
Movement disorder (subtype) – adult variant 4
Targets: MAPT
MOV-AGE-ADULT-5
Movement disorder (subtype) – adult variant 5
Targets: MAPTAPP
MOV-AGE-ADULT-6
Movement disorder (subtype) – adult variant 6
Targets: MAPTAPPSNCA
MOV-AGE-ELDERLY-1
Movement disorder (subtype) – elderly variant 1
Targets: MAPT
MOV-AGE-ELDERLY-2
Movement disorder (subtype) – elderly variant 2
Targets: MAPTAPP
MOV-AGE-ELDERLY-3
Movement disorder (subtype) – elderly variant 3
Targets: MAPTAPPSNCA
MOV-AGE-ELDERLY-4
Movement disorder (subtype) – elderly variant 4
Targets: MAPT
MOV-AGE-ELDERLY-5
Movement disorder (subtype) – elderly variant 5
Targets: MAPTAPP
MOV-AGE-ELDERLY-6
Movement disorder (subtype) – elderly variant 6
Targets: MAPTAPPSNCA
Neuro-Oncology · 53 diseases
GBM
Glioblastoma multiforme
Targets: EGFRPTENPDGFRANF1IDH1TP53CDK4PIK3CA +2 more
GBM-IDHwt
GBM IDH-wildtype (WHO grade 4)
Targets: EGFRPTENTP53CDK4MGMT
GBM-IDHmut
GBM IDH-mutant (WHO grade 4)
Targets: IDH1TP53ATRXCICMGMT
GBM-MGMT
GBM MGMT-methylated
Targets: MGMTTP53EGFR
AAS-IDHmut
Anaplastic astrocytoma IDH-mut grade 3
Targets: IDH1TP53ATRXCDKN2A
OLIGO
Oligodendroglioma 1p/19q codel
Targets: IDH1CICFUBP1TERT
AOLIGO
Anaplastic oligodendroglioma
Targets: IDH1CICFUBP1
PILOC
Pilocytic astrocytoma
Targets: BRAFNF1
PXA
Pleomorphic xanthoastrocytoma
Targets: BRAFCDKN2A
SEGA
Subependymal giant cell astrocytoma
Targets: TSC1TSC2MTOR
GG
Ganglioglioma
Targets: BRAFTSC2
DNET
Dysembryoplastic neuroepithelial tumor
Targets: FGFR1BRAF
DIPG
Diffuse intrinsic pontine glioma
Targets: H3F3AACVR1PDGFRATP53PPM1DEZH2ATMMET +2 more
DMG-H3
Diffuse midline glioma H3 K27M
Targets: H3F3AHIST1H3BACVR1TP53
PXA-LIKE
Diffuse midline glioma H3-wildtype
Targets: EGFRTP53PDGFRA
MEDULLO
Medulloblastoma
Targets: MYCMYCNSHHPTCH1SUFUTP53
MEDULLO-WNT
Medulloblastoma WNT-activated
Targets: CTNNB1TP53
MEDULLO-SHH
Medulloblastoma SHH-activated
Targets: SHHPTCH1SUFUSMOMYCNTP53
MEDULLO-3
Medulloblastoma group 3 (MYC)
Targets: MYCOTX2SMARCA4
MEDULLO-4
Medulloblastoma group 4
Targets: KDM6AMYCNSNCAIP
ATRT
Atypical teratoid/rhabdoid tumor
Targets: SMARCB1SMARCA4
EPEND
Ependymoma
Targets: NF2RELAYAP1
EPEND-PFA
Posterior fossa ependymoma A
Targets: EZHIPH3K27me3
EPEND-PFB
Posterior fossa ependymoma B
Targets: EZH2RELA
SUBEPEND
Subependymoma
Targets: NF2
CHRP
Choroid plexus carcinoma
Targets: TP53
CHRPpap
Choroid plexus papilloma
Targets: NOTCH3TWIST1
PNET
CNS embryonal tumor (formerly PNET)
Targets: MYCNLIN28AC19MC
PINEAL
Pineoblastoma
Targets: DICER1RB1
GERMC
Germinoma (CNS)
Targets: KITRASPIK3CA
TERATOCNS
CNS Teratoma
Targets: CHK2TP53
PCNSL
Primary CNS lymphoma
Targets: MYD88CD79BTP53BCL6
SCNSL
Secondary CNS lymphoma
Targets: MYD88CD79B
MENING-G1
Meningioma WHO grade 1
Targets: NF2TRAF7KLF4AKT1SMO
MENING-G2
Atypical meningioma grade 2
Targets: NF2SMARCB1BAP1
MENING-G3
Anaplastic meningioma grade 3
Targets: NF2TERTCDKN2A
SCHWAN
Schwannoma
Targets: NF2SMARCB1LZTR1
NF2-VS
Vestibular schwannoma (NF2)
Targets: NF2LZTR1
PIT-NFA
Pituitary nonfunctioning adenoma
Targets: MEN1GNAS
PIT-PRL
Prolactinoma
Targets: DRD2MEN1
PIT-GH
Acromegaly (GH adenoma)
Targets: GNASSSTR2SSTR5
PIT-CUSH
Cushing's disease (ACTH adenoma)
Targets: USP8POMCCRHR1
PIT-CRC
Pituitary carcinoma
Targets: TP53PTTG1
CRANIO
Craniopharyngioma adamantinomatous
Targets: CTNNB1BRAF
CRANIO-PAP
Craniopharyngioma papillary
Targets: BRAF
HEMANG
Hemangioblastoma
Targets: VHLHIF2A
CHORDOMA
Chordoma
Targets: T (BRACHYURY)PIK3CACDKN2A
METAS-LUNG
Brain metastases — lung
Targets: EGFRKRASTP53ALKROS1
METAS-BRCA
Brain metastases — breast
Targets: HER2ERBB2PIK3CATP53
METAS-MEL
Brain metastases — melanoma
Targets: BRAFNRASNF1TP53
METAS-RCC
Brain metastases — renal cell
Targets: VHLPBRM1SETD2
METAS-COL
Brain metastases — colorectal
Targets: KRASAPCTP53
LMD
Leptomeningeal disease
Targets: VEGFAEGFR
Neurodegenerative · 83 diseases
AD
Alzheimer's disease (typical)
Targets: APPMAPTBACE1PSEN1PSEN2APOETREM2CLU +2 more
AD-EARLY
Early-onset Alzheimer's (<65)
Targets: APPPSEN1PSEN2APOEMAPT
AD-LATE
Late-onset Alzheimer's
Targets: APOETREM2CLUBIN1CD33
AD-FAM
Familial Alzheimer's disease
Targets: APPPSEN1PSEN2
PCA
Posterior cortical atrophy
Targets: APPMAPTAPOE
LPA
Logopenic primary progressive aphasia
Targets: APPMAPTGRN
MCI
Mild cognitive impairment
Targets: APOEMAPTAPP
PD
Parkinson's disease (typical)
Targets: SNCALRRK2GBA1PRKNPINK1PARK7VPS35ATP13A2 +2 more
PD-EARLY
Early-onset Parkinson's
Targets: PRKNPINK1PARK7SNCA
PD-LRRK2
LRRK2-associated PD
Targets: LRRK2SNCAGBA1
PD-GBA
GBA1-associated PD
Targets: GBA1SNCALRRK2
PDD
Parkinson's disease dementia
Targets: SNCAMAPTAPOEGBA1
LBD
Dementia with Lewy bodies
Targets: SNCAAPOEGBA1MAPT
MSA-P
Multiple system atrophy parkinsonian
Targets: SNCACOQ2MAPT
MSA-C
Multiple system atrophy cerebellar
Targets: SNCACOQ2MAPT
PSP
Progressive supranuclear palsy
Targets: MAPTEIF2AK3MOBP
CBD
Corticobasal degeneration
Targets: MAPTTREM2
FTD-bv
Behavioral variant FTD
Targets: GRNMAPTC9orf72TARDBPVCPCHMP2B
FTD-PNFA
FTD non-fluent variant PPA
Targets: GRNMAPT
FTD-SD
FTD semantic variant PPA
Targets: MAPTTARDBP
FTD-ALS
FTD-ALS
Targets: C9orf72TARDBPFUSVCP
ALS-fam
ALS familial
Targets: SOD1C9orf72TARDBPFUSVCPTBK1
ALS-spor
ALS sporadic
Targets: C9orf72SOD1TARDBPUNC13A
PMA
Progressive muscular atrophy
Targets: SOD1TARDBP
PLS
Primary lateral sclerosis
Targets: ALS2PRKN
SBMA
Kennedy's disease (SBMA)
Targets: ARVCP
HD
Huntington's disease
Targets: HTTTP53MAPT
HD-JUV
Huntington juvenile-onset
Targets: HTT
SCA1
Spinocerebellar ataxia 1
Targets: ATXN1
SCA2
Spinocerebellar ataxia 2
Targets: ATXN2
SCA3
SCA3 / Machado-Joseph
Targets: ATXN3
SCA6
Spinocerebellar ataxia 6
Targets: CACNA1A
SCA7
Spinocerebellar ataxia 7
Targets: ATXN7
SCA17
Spinocerebellar ataxia 17
Targets: TBP
FA
Friedreich ataxia
Targets: FXN
AT
Ataxia-telangiectasia
Targets: ATM
AOA1
Ataxia oculomotor apraxia type 1
Targets: APTX
AOA2
Ataxia oculomotor apraxia type 2
Targets: SETX
PRION-CJD
Creutzfeldt-Jakob disease (sporadic)
Targets: PRNP
PRION-vCJD
Variant CJD
Targets: PRNP
PRION-fFI
Fatal familial insomnia
Targets: PRNP
PRION-GSS
Gerstmann-Sträussler-Scheinker
Targets: PRNP
NBIA-PKAN
PKAN (NBIA1)
Targets: PANK2
NBIA-MPAN
MPAN
Targets: C19orf12
NBIA-BPAN
BPAN
Targets: WDR45
PLAN
PLA2G6-associated neurodegeneration
Targets: PLA2G6
AD-DOWN
Down syndrome dementia (AD-like)
Targets: APPAPOEMAPT
CD-AGE-NEONATAL-1
Cognitive decline (subtype) – neonatal variant 1
Targets: MAPT
CD-AGE-NEONATAL-2
Cognitive decline (subtype) – neonatal variant 2
Targets: MAPTAPP
CD-AGE-NEONATAL-3
Cognitive decline (subtype) – neonatal variant 3
Targets: MAPTAPPSNCA
CD-AGE-NEONATAL-4
Cognitive decline (subtype) – neonatal variant 4
Targets: MAPT
CD-AGE-NEONATAL-5
Cognitive decline (subtype) – neonatal variant 5
Targets: MAPTAPP
CD-AGE-NEONATAL-6
Cognitive decline (subtype) – neonatal variant 6
Targets: MAPTAPPSNCA
CD-AGE-INFANTILE-1
Cognitive decline (subtype) – infantile variant 1
Targets: MAPT
CD-AGE-INFANTILE-2
Cognitive decline (subtype) – infantile variant 2
Targets: MAPTAPP
CD-AGE-INFANTILE-3
Cognitive decline (subtype) – infantile variant 3
Targets: MAPTAPPSNCA
CD-AGE-INFANTILE-4
Cognitive decline (subtype) – infantile variant 4
Targets: MAPT
CD-AGE-INFANTILE-5
Cognitive decline (subtype) – infantile variant 5
Targets: MAPTAPP
CD-AGE-INFANTILE-6
Cognitive decline (subtype) – infantile variant 6
Targets: MAPTAPPSNCA
CD-AGE-CHILDHOOD-1
Cognitive decline (subtype) – childhood variant 1
Targets: MAPT
CD-AGE-CHILDHOOD-2
Cognitive decline (subtype) – childhood variant 2
Targets: MAPTAPP
CD-AGE-CHILDHOOD-3
Cognitive decline (subtype) – childhood variant 3
Targets: MAPTAPPSNCA
CD-AGE-CHILDHOOD-4
Cognitive decline (subtype) – childhood variant 4
Targets: MAPT
CD-AGE-CHILDHOOD-5
Cognitive decline (subtype) – childhood variant 5
Targets: MAPTAPP
CD-AGE-CHILDHOOD-6
Cognitive decline (subtype) – childhood variant 6
Targets: MAPTAPPSNCA
CD-AGE-ADOLESCENT-1
Cognitive decline (subtype) – adolescent variant 1
Targets: MAPT
CD-AGE-ADOLESCENT-2
Cognitive decline (subtype) – adolescent variant 2
Targets: MAPTAPP
CD-AGE-ADOLESCENT-3
Cognitive decline (subtype) – adolescent variant 3
Targets: MAPTAPPSNCA
CD-AGE-ADOLESCENT-4
Cognitive decline (subtype) – adolescent variant 4
Targets: MAPT
CD-AGE-ADOLESCENT-5
Cognitive decline (subtype) – adolescent variant 5
Targets: MAPTAPP
CD-AGE-ADOLESCENT-6
Cognitive decline (subtype) – adolescent variant 6
Targets: MAPTAPPSNCA
CD-AGE-ADULT-1
Cognitive decline (subtype) – adult variant 1
Targets: MAPT
CD-AGE-ADULT-2
Cognitive decline (subtype) – adult variant 2
Targets: MAPTAPP
CD-AGE-ADULT-3
Cognitive decline (subtype) – adult variant 3
Targets: MAPTAPPSNCA
CD-AGE-ADULT-4
Cognitive decline (subtype) – adult variant 4
Targets: MAPT
CD-AGE-ADULT-5
Cognitive decline (subtype) – adult variant 5
Targets: MAPTAPP
CD-AGE-ADULT-6
Cognitive decline (subtype) – adult variant 6
Targets: MAPTAPPSNCA
CD-AGE-ELDERLY-1
Cognitive decline (subtype) – elderly variant 1
Targets: MAPT
CD-AGE-ELDERLY-2
Cognitive decline (subtype) – elderly variant 2
Targets: MAPTAPP
CD-AGE-ELDERLY-3
Cognitive decline (subtype) – elderly variant 3
Targets: MAPTAPPSNCA
CD-AGE-ELDERLY-4
Cognitive decline (subtype) – elderly variant 4
Targets: MAPT
CD-AGE-ELDERLY-5
Cognitive decline (subtype) – elderly variant 5
Targets: MAPTAPP
CD-AGE-ELDERLY-6
Cognitive decline (subtype) – elderly variant 6
Targets: MAPTAPPSNCA
Neuroinfectious · 58 diseases
HSV-ENC
Herpes simplex encephalitis
Targets: HSV-1TLR3UNC93B1
JE
Japanese encephalitis
Targets: JEV
WNV-ENC
West Nile virus neuroinvasive
Targets: WNVOAS1
TBE
Tick-borne encephalitis
Targets: TBEVOAS1
RABIES-ENC
Rabies encephalitis
Targets: RABV
CMV-ENC
CMV encephalitis (immunocompromised)
Targets: HCMV
EBV-ENC
EBV encephalitis
Targets: EBV
NEUROCOV
Long-COVID neuro / post-acute
Targets: ACE2CCL2TNF
NEUROCOV-A
Acute COVID encephalopathy
Targets: ACE2TMPRSS2
AUTOIMM-ENC
Autoimmune encephalitis NMDA
Targets: GRIN1GRIN2AGRIN2B
LIMBIC-ENC
Limbic encephalitis (LGI1)
Targets: LGI1CASPR2
OPCA-ENC
Opsoclonus-myoclonus syndrome
Targets: HuDGAD
PARANEO
Paraneoplastic encephalomyelitis
Targets: HuDMa2CV2
NEUROCYST
Neurocysticercosis
Targets: T.solium
TBM
Tuberculous meningitis
Targets: MtbSLC11A1
CRYP-MEN
Cryptococcal meningitis
Targets: CRY-virulenceHIV
NEURO-LYME
Neuroborreliosis
Targets: B.burgdorferi
NEUROSYPH
Neurosyphilis
Targets: T.pallidum
SSPE
Subacute sclerosing panencephalitis
Targets: MeV
PML-JC
Progressive multifocal leukoencephalopathy
Targets: JC virus
AIDS-DEM
HIV-associated dementia
Targets: HIV-1
HAND
HIV-associated neurocognitive disorder
Targets: HIV-1APOE
ENC-AGE-NEONATAL-1
Encephalopathy (subtype) – neonatal variant 1
Targets: MAPT
ENC-AGE-NEONATAL-2
Encephalopathy (subtype) – neonatal variant 2
Targets: MAPTAPP
ENC-AGE-NEONATAL-3
Encephalopathy (subtype) – neonatal variant 3
Targets: MAPTAPPSNCA
ENC-AGE-NEONATAL-4
Encephalopathy (subtype) – neonatal variant 4
Targets: MAPT
ENC-AGE-NEONATAL-5
Encephalopathy (subtype) – neonatal variant 5
Targets: MAPTAPP
ENC-AGE-NEONATAL-6
Encephalopathy (subtype) – neonatal variant 6
Targets: MAPTAPPSNCA
ENC-AGE-INFANTILE-1
Encephalopathy (subtype) – infantile variant 1
Targets: MAPT
ENC-AGE-INFANTILE-2
Encephalopathy (subtype) – infantile variant 2
Targets: MAPTAPP
ENC-AGE-INFANTILE-3
Encephalopathy (subtype) – infantile variant 3
Targets: MAPTAPPSNCA
ENC-AGE-INFANTILE-4
Encephalopathy (subtype) – infantile variant 4
Targets: MAPT
ENC-AGE-INFANTILE-5
Encephalopathy (subtype) – infantile variant 5
Targets: MAPTAPP
ENC-AGE-INFANTILE-6
Encephalopathy (subtype) – infantile variant 6
Targets: MAPTAPPSNCA
ENC-AGE-CHILDHOOD-1
Encephalopathy (subtype) – childhood variant 1
Targets: MAPT
ENC-AGE-CHILDHOOD-2
Encephalopathy (subtype) – childhood variant 2
Targets: MAPTAPP
ENC-AGE-CHILDHOOD-3
Encephalopathy (subtype) – childhood variant 3
Targets: MAPTAPPSNCA
ENC-AGE-CHILDHOOD-4
Encephalopathy (subtype) – childhood variant 4
Targets: MAPT
ENC-AGE-CHILDHOOD-5
Encephalopathy (subtype) – childhood variant 5
Targets: MAPTAPP
ENC-AGE-CHILDHOOD-6
Encephalopathy (subtype) – childhood variant 6
Targets: MAPTAPPSNCA
ENC-AGE-ADOLESCENT-1
Encephalopathy (subtype) – adolescent variant 1
Targets: MAPT
ENC-AGE-ADOLESCENT-2
Encephalopathy (subtype) – adolescent variant 2
Targets: MAPTAPP
ENC-AGE-ADOLESCENT-3
Encephalopathy (subtype) – adolescent variant 3
Targets: MAPTAPPSNCA
ENC-AGE-ADOLESCENT-4
Encephalopathy (subtype) – adolescent variant 4
Targets: MAPT
ENC-AGE-ADOLESCENT-5
Encephalopathy (subtype) – adolescent variant 5
Targets: MAPTAPP
ENC-AGE-ADOLESCENT-6
Encephalopathy (subtype) – adolescent variant 6
Targets: MAPTAPPSNCA
ENC-AGE-ADULT-1
Encephalopathy (subtype) – adult variant 1
Targets: MAPT
ENC-AGE-ADULT-2
Encephalopathy (subtype) – adult variant 2
Targets: MAPTAPP
ENC-AGE-ADULT-3
Encephalopathy (subtype) – adult variant 3
Targets: MAPTAPPSNCA
ENC-AGE-ADULT-4
Encephalopathy (subtype) – adult variant 4
Targets: MAPT
ENC-AGE-ADULT-5
Encephalopathy (subtype) – adult variant 5
Targets: MAPTAPP
ENC-AGE-ADULT-6
Encephalopathy (subtype) – adult variant 6
Targets: MAPTAPPSNCA
ENC-AGE-ELDERLY-1
Encephalopathy (subtype) – elderly variant 1
Targets: MAPT
ENC-AGE-ELDERLY-2
Encephalopathy (subtype) – elderly variant 2
Targets: MAPTAPP
ENC-AGE-ELDERLY-3
Encephalopathy (subtype) – elderly variant 3
Targets: MAPTAPPSNCA
ENC-AGE-ELDERLY-4
Encephalopathy (subtype) – elderly variant 4
Targets: MAPT
ENC-AGE-ELDERLY-5
Encephalopathy (subtype) – elderly variant 5
Targets: MAPTAPP
ENC-AGE-ELDERLY-6
Encephalopathy (subtype) – elderly variant 6
Targets: MAPTAPPSNCA
Neuromuscular · 27 diseases
CMT1A
Charcot-Marie-Tooth 1A
Targets: PMP22
CMT1B
Charcot-Marie-Tooth 1B
Targets: MPZ
CMT2A
Charcot-Marie-Tooth 2A
Targets: MFN2
CMTX
Charcot-Marie-Tooth X-linked
Targets: GJB1
GBS-AIDP
Guillain-Barré (AIDP)
Targets: HLAGM1
GBS-AMAN
Guillain-Barré (AMAN)
Targets: GM1GM1b
GBS-MFS
Miller Fisher syndrome
Targets: GQ1b
CIDP
Chronic inflammatory demyelinating polyneuropathy
Targets: CD20HLA
MMN
Multifocal motor neuropathy
Targets: GM1
SMA1
Spinal muscular atrophy type 1
Targets: SMN1SMN2
SMA2
Spinal muscular atrophy type 2
Targets: SMN1SMN2
SMA3
Spinal muscular atrophy type 3
Targets: SMN1SMN2
SMA4
Spinal muscular atrophy type 4
Targets: SMN1SMN2
DMD
Duchenne muscular dystrophy
Targets: DMD
BMD
Becker muscular dystrophy
Targets: DMD
LGMD
Limb-girdle muscular dystrophy
Targets: DYSFSGCACAPN3CALPAIN3
FSHD
Facioscapulohumeral muscular dystrophy
Targets: DUX4SMCHD1
MYOTONIC1
Myotonic dystrophy type 1
Targets: DMPK
MYOTONIC2
Myotonic dystrophy type 2
Targets: CNBP
MG
Myasthenia gravis (AChR)
Targets: CHRNA1CHRNB1CHRND
LEMS
Lambert-Eaton myasthenic syndrome
Targets: CACNA1A
MELAS
Mitochondrial MELAS
Targets: MT-TL1MT-ND5
MERRF
Mitochondrial MERRF
Targets: MT-TK
LHON
Leber hereditary optic neuropathy
Targets: MT-ND1MT-ND4MT-ND6
LEIGH
Leigh syndrome
Targets: SURF1MT-ATP6NDUFA1
KSS
Kearns-Sayre syndrome
Targets: mtDNA-deletion
CPEO
Chronic progressive external ophthalmoplegia
Targets: POLGmtDNA
Pediatric/Genetic · 240 diseases
RETT-CL
Rett syndrome (classic)
Targets: MECP2CDKL5FOXG1
RETT-AT
Atypical Rett (early-seizure)
Targets: CDKL5FOXG1
RETT-PSV
Preserved speech variant Rett
Targets: MECP2
ANGEL-DEL
Angelman syndrome (del)
Targets: UBE3A
ANGEL-UPD
Angelman syndrome (UPD)
Targets: UBE3A
PWS-DEL
Prader-Willi (deletion)
Targets: SNRPNSNORD116MAGEL2
PWS-UPD
Prader-Willi (mUPD)
Targets: SNRPN
FX
Fragile X syndrome
Targets: FMR1
FXTAS
Fragile X-associated tremor/ataxia
Targets: FMR1
FXPOI
Fragile X-associated POI
Targets: FMR1
TS-COMPLEX
Tuberous sclerosis complex
Targets: TSC1TSC2MTOR
NF1
Neurofibromatosis type 1
Targets: NF1
NF2
Neurofibromatosis type 2
Targets: NF2
SCHWN-NEO
Schwannomatosis
Targets: SMARCB1LZTR1NF2
STURGE
Sturge-Weber syndrome
Targets: GNAQ
VHL
Von Hippel-Lindau
Targets: VHL
AT-DIS
Ataxia-telangiectasia
Targets: ATM
JOUBERT
Joubert syndrome
Targets: AHI1CC2D2ACEP290TMEM67
DANDY
Dandy-Walker malformation
Targets: ZIC1ZIC4FOXC1
CHIARI1
Chiari malformation type 1
Targets: CHD8
CHIARI2
Chiari malformation type 2
Targets: VANGL1VANGL2
LIS1
Lissencephaly type 1 (Miller-Dieker)
Targets: LIS1PAFAH1B1DCX
SBH
Subcortical band heterotopia
Targets: DCXLIS1
PEHO
PEHO syndrome
Targets: ZNHIT3CCDC88A
PMG
Polymicrogyria
Targets: TUBA1ATUBB3GPR56
MICRO-AD
Microcephaly autosomal dominant
Targets: ASPMMCPH1WDR62
MICRO-AR
Microcephaly autosomal recessive
Targets: ASPMMCPH1CDK5RAP2
AUTISM-SP
Autism spectrum disorder
Targets: SHANK3MECP2CHD8SCN2APTENTSC1FMR1UBE3A +2 more
ASD-SYNG
SYNGAP1-related ID/ASD
Targets: SYNGAP1
ASD-SHANK
SHANK3-related (Phelan-McDermid)
Targets: SHANK3
ID-FOXP1
FOXP1-related ID
Targets: FOXP1
PTEN-HAM
PTEN hamartoma tumor syndrome
Targets: PTEN
COSTELLO
Costello syndrome
Targets: HRAS
NOONAN
Noonan syndrome
Targets: PTPN11SOS1RAF1RIT1
CARDIOFAC
Cardio-facio-cutaneous syndrome
Targets: BRAFMAP2K1MAP2K2
LEGIUS
Legius syndrome
Targets: SPRED1
LEOPARD
LEOPARD / Noonan with multiple lentigines
Targets: PTPN11RAF1BRAF
WILLIAMS
Williams-Beuren syndrome
Targets: ELNGTF2ILIMK1CLIP2
KAB22
22q11.2 deletion (DiGeorge)
Targets: TBX1COMT
KAB16
16p11.2 deletion
Targets: KCTD13TAOK2
NDDS-AGE-NEONATAL-1
Neurodevelopmental delay (age subtype) – neonatal variant 1
Targets: MAPT
NDDS-AGE-NEONATAL-2
Neurodevelopmental delay (age subtype) – neonatal variant 2
Targets: MAPTAPP
NDDS-AGE-NEONATAL-3
Neurodevelopmental delay (age subtype) – neonatal variant 3
Targets: MAPTAPPSNCA
NDDS-AGE-NEONATAL-4
Neurodevelopmental delay (age subtype) – neonatal variant 4
Targets: MAPT
NDDS-AGE-NEONATAL-5
Neurodevelopmental delay (age subtype) – neonatal variant 5
Targets: MAPTAPP
NDDS-AGE-NEONATAL-6
Neurodevelopmental delay (age subtype) – neonatal variant 6
Targets: MAPTAPPSNCA
NDDS-AGE-INFANTILE-1
Neurodevelopmental delay (age subtype) – infantile variant 1
Targets: MAPT
NDDS-AGE-INFANTILE-2
Neurodevelopmental delay (age subtype) – infantile variant 2
Targets: MAPTAPP
NDDS-AGE-INFANTILE-3
Neurodevelopmental delay (age subtype) – infantile variant 3
Targets: MAPTAPPSNCA
NDDS-AGE-INFANTILE-4
Neurodevelopmental delay (age subtype) – infantile variant 4
Targets: MAPT
NDDS-AGE-INFANTILE-5
Neurodevelopmental delay (age subtype) – infantile variant 5
Targets: MAPTAPP
NDDS-AGE-INFANTILE-6
Neurodevelopmental delay (age subtype) – infantile variant 6
Targets: MAPTAPPSNCA
NDDS-AGE-CHILDHOOD-1
Neurodevelopmental delay (age subtype) – childhood variant 1
Targets: MAPT
NDDS-AGE-CHILDHOOD-2
Neurodevelopmental delay (age subtype) – childhood variant 2
Targets: MAPTAPP
NDDS-AGE-CHILDHOOD-3
Neurodevelopmental delay (age subtype) – childhood variant 3
Targets: MAPTAPPSNCA
NDDS-AGE-CHILDHOOD-4
Neurodevelopmental delay (age subtype) – childhood variant 4
Targets: MAPT
NDDS-AGE-CHILDHOOD-5
Neurodevelopmental delay (age subtype) – childhood variant 5
Targets: MAPTAPP
NDDS-AGE-CHILDHOOD-6
Neurodevelopmental delay (age subtype) – childhood variant 6
Targets: MAPTAPPSNCA
NDDS-AGE-ADOLESCENT-1
Neurodevelopmental delay (age subtype) – adolescent variant 1
Targets: MAPT
NDDS-AGE-ADOLESCENT-2
Neurodevelopmental delay (age subtype) – adolescent variant 2
Targets: MAPTAPP
NDDS-AGE-ADOLESCENT-3
Neurodevelopmental delay (age subtype) – adolescent variant 3
Targets: MAPTAPPSNCA
NDDS-AGE-ADOLESCENT-4
Neurodevelopmental delay (age subtype) – adolescent variant 4
Targets: MAPT
NDDS-AGE-ADOLESCENT-5
Neurodevelopmental delay (age subtype) – adolescent variant 5
Targets: MAPTAPP
NDDS-AGE-ADOLESCENT-6
Neurodevelopmental delay (age subtype) – adolescent variant 6
Targets: MAPTAPPSNCA
NDDS-AGE-ADULT-1
Neurodevelopmental delay (age subtype) – adult variant 1
Targets: MAPT
NDDS-AGE-ADULT-2
Neurodevelopmental delay (age subtype) – adult variant 2
Targets: MAPTAPP
NDDS-AGE-ADULT-3
Neurodevelopmental delay (age subtype) – adult variant 3
Targets: MAPTAPPSNCA
NDDS-AGE-ADULT-4
Neurodevelopmental delay (age subtype) – adult variant 4
Targets: MAPT
NDDS-AGE-ADULT-5
Neurodevelopmental delay (age subtype) – adult variant 5
Targets: MAPTAPP
NDDS-AGE-ADULT-6
Neurodevelopmental delay (age subtype) – adult variant 6
Targets: MAPTAPPSNCA
NDDS-AGE-ELDERLY-1
Neurodevelopmental delay (age subtype) – elderly variant 1
Targets: MAPT
NDDS-AGE-ELDERLY-2
Neurodevelopmental delay (age subtype) – elderly variant 2
Targets: MAPTAPP
NDDS-AGE-ELDERLY-3
Neurodevelopmental delay (age subtype) – elderly variant 3
Targets: MAPTAPPSNCA
NDDS-AGE-ELDERLY-4
Neurodevelopmental delay (age subtype) – elderly variant 4
Targets: MAPT
NDDS-AGE-ELDERLY-5
Neurodevelopmental delay (age subtype) – elderly variant 5
Targets: MAPTAPP
NDDS-AGE-ELDERLY-6
Neurodevelopmental delay (age subtype) – elderly variant 6
Targets: MAPTAPPSNCA
ATP1A3-PHEN-1
ATP1A3-related disorder phenotype 1
Targets: ATP1A3
ATP1A3-PHEN-2
ATP1A3-related disorder phenotype 2
Targets: ATP1A3
ATP1A3-PHEN-3
ATP1A3-related disorder phenotype 3
Targets: ATP1A3
ATP1A3-PHEN-4
ATP1A3-related disorder phenotype 4
Targets: ATP1A3
ATP1A3-PHEN-5
ATP1A3-related disorder phenotype 5
Targets: ATP1A3
ATP1A3-PHEN-6
ATP1A3-related disorder phenotype 6
Targets: ATP1A3
SCN8A-PHEN-1
SCN8A-related disorder phenotype 1
Targets: SCN8A
SCN8A-PHEN-2
SCN8A-related disorder phenotype 2
Targets: SCN8A
SCN8A-PHEN-3
SCN8A-related disorder phenotype 3
Targets: SCN8A
SCN8A-PHEN-4
SCN8A-related disorder phenotype 4
Targets: SCN8A
SCN8A-PHEN-5
SCN8A-related disorder phenotype 5
Targets: SCN8A
SCN8A-PHEN-6
SCN8A-related disorder phenotype 6
Targets: SCN8A
KCNT1-PHEN-1
KCNT1-related disorder phenotype 1
Targets: KCNT1
KCNT1-PHEN-2
KCNT1-related disorder phenotype 2
Targets: KCNT1
KCNT1-PHEN-3
KCNT1-related disorder phenotype 3
Targets: KCNT1
KCNT1-PHEN-4
KCNT1-related disorder phenotype 4
Targets: KCNT1
KCNT1-PHEN-5
KCNT1-related disorder phenotype 5
Targets: KCNT1
KCNT1-PHEN-6
KCNT1-related disorder phenotype 6
Targets: KCNT1
GRIN2A-PHEN-1
GRIN2A-related disorder phenotype 1
Targets: GRIN2A
GRIN2A-PHEN-2
GRIN2A-related disorder phenotype 2
Targets: GRIN2A
GRIN2A-PHEN-3
GRIN2A-related disorder phenotype 3
Targets: GRIN2A
GRIN2A-PHEN-4
GRIN2A-related disorder phenotype 4
Targets: GRIN2A
GRIN2A-PHEN-5
GRIN2A-related disorder phenotype 5
Targets: GRIN2A
GRIN2A-PHEN-6
GRIN2A-related disorder phenotype 6
Targets: GRIN2A
GRIN2B-PHEN-1
GRIN2B-related disorder phenotype 1
Targets: GRIN2B
GRIN2B-PHEN-2
GRIN2B-related disorder phenotype 2
Targets: GRIN2B
GRIN2B-PHEN-3
GRIN2B-related disorder phenotype 3
Targets: GRIN2B
GRIN2B-PHEN-4
GRIN2B-related disorder phenotype 4
Targets: GRIN2B
GRIN2B-PHEN-5
GRIN2B-related disorder phenotype 5
Targets: GRIN2B
GRIN2B-PHEN-6
GRIN2B-related disorder phenotype 6
Targets: GRIN2B
SYNGAP1-PHEN-1
SYNGAP1-related disorder phenotype 1
Targets: SYNGAP1
SYNGAP1-PHEN-2
SYNGAP1-related disorder phenotype 2
Targets: SYNGAP1
SYNGAP1-PHEN-3
SYNGAP1-related disorder phenotype 3
Targets: SYNGAP1
SYNGAP1-PHEN-4
SYNGAP1-related disorder phenotype 4
Targets: SYNGAP1
SYNGAP1-PHEN-5
SYNGAP1-related disorder phenotype 5
Targets: SYNGAP1
SYNGAP1-PHEN-6
SYNGAP1-related disorder phenotype 6
Targets: SYNGAP1
GABRB3-PHEN-1
GABRB3-related disorder phenotype 1
Targets: GABRB3
GABRB3-PHEN-2
GABRB3-related disorder phenotype 2
Targets: GABRB3
GABRB3-PHEN-3
GABRB3-related disorder phenotype 3
Targets: GABRB3
GABRB3-PHEN-4
GABRB3-related disorder phenotype 4
Targets: GABRB3
GABRB3-PHEN-5
GABRB3-related disorder phenotype 5
Targets: GABRB3
GABRB3-PHEN-6
GABRB3-related disorder phenotype 6
Targets: GABRB3
CACNA1A-PHEN-1
CACNA1A-related disorder phenotype 1
Targets: CACNA1A
CACNA1A-PHEN-2
CACNA1A-related disorder phenotype 2
Targets: CACNA1A
CACNA1A-PHEN-3
CACNA1A-related disorder phenotype 3
Targets: CACNA1A
CACNA1A-PHEN-4
CACNA1A-related disorder phenotype 4
Targets: CACNA1A
CACNA1A-PHEN-5
CACNA1A-related disorder phenotype 5
Targets: CACNA1A
CACNA1A-PHEN-6
CACNA1A-related disorder phenotype 6
Targets: CACNA1A
CACNA1H-PHEN-1
CACNA1H-related disorder phenotype 1
Targets: CACNA1H
CACNA1H-PHEN-2
CACNA1H-related disorder phenotype 2
Targets: CACNA1H
CACNA1H-PHEN-3
CACNA1H-related disorder phenotype 3
Targets: CACNA1H
CACNA1H-PHEN-4
CACNA1H-related disorder phenotype 4
Targets: CACNA1H
CACNA1H-PHEN-5
CACNA1H-related disorder phenotype 5
Targets: CACNA1H
CACNA1H-PHEN-6
CACNA1H-related disorder phenotype 6
Targets: CACNA1H
SLC6A1-PHEN-1
SLC6A1-related disorder phenotype 1
Targets: SLC6A1
SLC6A1-PHEN-2
SLC6A1-related disorder phenotype 2
Targets: SLC6A1
SLC6A1-PHEN-3
SLC6A1-related disorder phenotype 3
Targets: SLC6A1
SLC6A1-PHEN-4
SLC6A1-related disorder phenotype 4
Targets: SLC6A1
SLC6A1-PHEN-5
SLC6A1-related disorder phenotype 5
Targets: SLC6A1
SLC6A1-PHEN-6
SLC6A1-related disorder phenotype 6
Targets: SLC6A1
STXBP1-PHEN-1
STXBP1-related disorder phenotype 1
Targets: STXBP1
STXBP1-PHEN-2
STXBP1-related disorder phenotype 2
Targets: STXBP1
STXBP1-PHEN-3
STXBP1-related disorder phenotype 3
Targets: STXBP1
STXBP1-PHEN-4
STXBP1-related disorder phenotype 4
Targets: STXBP1
STXBP1-PHEN-5
STXBP1-related disorder phenotype 5
Targets: STXBP1
STXBP1-PHEN-6
STXBP1-related disorder phenotype 6
Targets: STXBP1
UNC80-PHEN-1
UNC80-related disorder phenotype 1
Targets: UNC80
UNC80-PHEN-2
UNC80-related disorder phenotype 2
Targets: UNC80
UNC80-PHEN-3
UNC80-related disorder phenotype 3
Targets: UNC80
UNC80-PHEN-4
UNC80-related disorder phenotype 4
Targets: UNC80
UNC80-PHEN-5
UNC80-related disorder phenotype 5
Targets: UNC80
UNC80-PHEN-6
UNC80-related disorder phenotype 6
Targets: UNC80
HCN1-PHEN-1
HCN1-related disorder phenotype 1
Targets: HCN1
HCN1-PHEN-2
HCN1-related disorder phenotype 2
Targets: HCN1
HCN1-PHEN-3
HCN1-related disorder phenotype 3
Targets: HCN1
HCN1-PHEN-4
HCN1-related disorder phenotype 4
Targets: HCN1
HCN1-PHEN-5
HCN1-related disorder phenotype 5
Targets: HCN1
HCN1-PHEN-6
HCN1-related disorder phenotype 6
Targets: HCN1
HCN2-PHEN-1
HCN2-related disorder phenotype 1
Targets: HCN2
HCN2-PHEN-2
HCN2-related disorder phenotype 2
Targets: HCN2
HCN2-PHEN-3
HCN2-related disorder phenotype 3
Targets: HCN2
HCN2-PHEN-4
HCN2-related disorder phenotype 4
Targets: HCN2
HCN2-PHEN-5
HCN2-related disorder phenotype 5
Targets: HCN2
HCN2-PHEN-6
HCN2-related disorder phenotype 6
Targets: HCN2
CSNK1G1-NDD-1
CSNK1G1-related neurodevelopmental disorder type 1
Targets: CSNK1G1
CSNK1G1-NDD-2
CSNK1G1-related neurodevelopmental disorder type 2
Targets: CSNK1G1
CSNK1G1-NDD-3
CSNK1G1-related neurodevelopmental disorder type 3
Targets: CSNK1G1
CSNK1G1-NDD-4
CSNK1G1-related neurodevelopmental disorder type 4
Targets: CSNK1G1
CSNK1G1-NDD-5
CSNK1G1-related neurodevelopmental disorder type 5
Targets: CSNK1G1
PURA-NDD-1
PURA-related neurodevelopmental disorder type 1
Targets: PURA
PURA-NDD-2
PURA-related neurodevelopmental disorder type 2
Targets: PURA
PURA-NDD-3
PURA-related neurodevelopmental disorder type 3
Targets: PURA
PURA-NDD-4
PURA-related neurodevelopmental disorder type 4
Targets: PURA
PURA-NDD-5
PURA-related neurodevelopmental disorder type 5
Targets: PURA
MEF2C-NDD-1
MEF2C-related neurodevelopmental disorder type 1
Targets: MEF2C
MEF2C-NDD-2
MEF2C-related neurodevelopmental disorder type 2
Targets: MEF2C
MEF2C-NDD-3
MEF2C-related neurodevelopmental disorder type 3
Targets: MEF2C
MEF2C-NDD-4
MEF2C-related neurodevelopmental disorder type 4
Targets: MEF2C
MEF2C-NDD-5
MEF2C-related neurodevelopmental disorder type 5
Targets: MEF2C
FOXG1-NDD-1
FOXG1-related neurodevelopmental disorder type 1
Targets: FOXG1
FOXG1-NDD-2
FOXG1-related neurodevelopmental disorder type 2
Targets: FOXG1
FOXG1-NDD-3
FOXG1-related neurodevelopmental disorder type 3
Targets: FOXG1
FOXG1-NDD-4
FOXG1-related neurodevelopmental disorder type 4
Targets: FOXG1
FOXG1-NDD-5
FOXG1-related neurodevelopmental disorder type 5
Targets: FOXG1
BCL11A-NDD-1
BCL11A-related neurodevelopmental disorder type 1
Targets: BCL11A
BCL11A-NDD-2
BCL11A-related neurodevelopmental disorder type 2
Targets: BCL11A
BCL11A-NDD-3
BCL11A-related neurodevelopmental disorder type 3
Targets: BCL11A
BCL11A-NDD-4
BCL11A-related neurodevelopmental disorder type 4
Targets: BCL11A
BCL11A-NDD-5
BCL11A-related neurodevelopmental disorder type 5
Targets: BCL11A
SETD5-NDD-1
SETD5-related neurodevelopmental disorder type 1
Targets: SETD5
SETD5-NDD-2
SETD5-related neurodevelopmental disorder type 2
Targets: SETD5
SETD5-NDD-3
SETD5-related neurodevelopmental disorder type 3
Targets: SETD5
SETD5-NDD-4
SETD5-related neurodevelopmental disorder type 4
Targets: SETD5
SETD5-NDD-5
SETD5-related neurodevelopmental disorder type 5
Targets: SETD5
EHMT1-NDD-1
EHMT1-related neurodevelopmental disorder type 1
Targets: EHMT1
EHMT1-NDD-2
EHMT1-related neurodevelopmental disorder type 2
Targets: EHMT1
EHMT1-NDD-3
EHMT1-related neurodevelopmental disorder type 3
Targets: EHMT1
EHMT1-NDD-4
EHMT1-related neurodevelopmental disorder type 4
Targets: EHMT1
EHMT1-NDD-5
EHMT1-related neurodevelopmental disorder type 5
Targets: EHMT1
CHD2-NDD-1
CHD2-related neurodevelopmental disorder type 1
Targets: CHD2
CHD2-NDD-2
CHD2-related neurodevelopmental disorder type 2
Targets: CHD2
CHD2-NDD-3
CHD2-related neurodevelopmental disorder type 3
Targets: CHD2
CHD2-NDD-4
CHD2-related neurodevelopmental disorder type 4
Targets: CHD2
CHD2-NDD-5
CHD2-related neurodevelopmental disorder type 5
Targets: CHD2
CTNNB1-NDD-1
CTNNB1-related neurodevelopmental disorder type 1
Targets: CTNNB1
CTNNB1-NDD-2
CTNNB1-related neurodevelopmental disorder type 2
Targets: CTNNB1
CTNNB1-NDD-3
CTNNB1-related neurodevelopmental disorder type 3
Targets: CTNNB1
CTNNB1-NDD-4
CTNNB1-related neurodevelopmental disorder type 4
Targets: CTNNB1
CTNNB1-NDD-5
CTNNB1-related neurodevelopmental disorder type 5
Targets: CTNNB1
TBR1-NDD-1
TBR1-related neurodevelopmental disorder type 1
Targets: TBR1
TBR1-NDD-2
TBR1-related neurodevelopmental disorder type 2
Targets: TBR1
TBR1-NDD-3
TBR1-related neurodevelopmental disorder type 3
Targets: TBR1
TBR1-NDD-4
TBR1-related neurodevelopmental disorder type 4
Targets: TBR1
TBR1-NDD-5
TBR1-related neurodevelopmental disorder type 5
Targets: TBR1
SCN1B-NDD-1
SCN1B-related neurodevelopmental disorder type 1
Targets: SCN1B
SCN1B-NDD-2
SCN1B-related neurodevelopmental disorder type 2
Targets: SCN1B
SCN1B-NDD-3
SCN1B-related neurodevelopmental disorder type 3
Targets: SCN1B
SCN1B-NDD-4
SCN1B-related neurodevelopmental disorder type 4
Targets: SCN1B
SCN1B-NDD-5
SCN1B-related neurodevelopmental disorder type 5
Targets: SCN1B
GABBR2-NDD-1
GABBR2-related neurodevelopmental disorder type 1
Targets: GABBR2
GABBR2-NDD-2
GABBR2-related neurodevelopmental disorder type 2
Targets: GABBR2
GABBR2-NDD-3
GABBR2-related neurodevelopmental disorder type 3
Targets: GABBR2
GABBR2-NDD-4
GABBR2-related neurodevelopmental disorder type 4
Targets: GABBR2
GABBR2-NDD-5
GABBR2-related neurodevelopmental disorder type 5
Targets: GABBR2
UBE3B-NDD-1
UBE3B-related neurodevelopmental disorder type 1
Targets: UBE3B
UBE3B-NDD-2
UBE3B-related neurodevelopmental disorder type 2
Targets: UBE3B
UBE3B-NDD-3
UBE3B-related neurodevelopmental disorder type 3
Targets: UBE3B
UBE3B-NDD-4
UBE3B-related neurodevelopmental disorder type 4
Targets: UBE3B
UBE3B-NDD-5
UBE3B-related neurodevelopmental disorder type 5
Targets: UBE3B
DYNC1H1-NDD-1
DYNC1H1-related neurodevelopmental disorder type 1
Targets: DYNC1H1
DYNC1H1-NDD-2
DYNC1H1-related neurodevelopmental disorder type 2
Targets: DYNC1H1
DYNC1H1-NDD-3
DYNC1H1-related neurodevelopmental disorder type 3
Targets: DYNC1H1
DYNC1H1-NDD-4
DYNC1H1-related neurodevelopmental disorder type 4
Targets: DYNC1H1
DYNC1H1-NDD-5
DYNC1H1-related neurodevelopmental disorder type 5
Targets: DYNC1H1
TUBB2B-NDD-1
TUBB2B-related neurodevelopmental disorder type 1
Targets: TUBB2B
TUBB2B-NDD-2
TUBB2B-related neurodevelopmental disorder type 2
Targets: TUBB2B
TUBB2B-NDD-3
TUBB2B-related neurodevelopmental disorder type 3
Targets: TUBB2B
TUBB2B-NDD-4
TUBB2B-related neurodevelopmental disorder type 4
Targets: TUBB2B
TUBB2B-NDD-5
TUBB2B-related neurodevelopmental disorder type 5
Targets: TUBB2B
TUBB4A-NDD-1
TUBB4A-related neurodevelopmental disorder type 1
Targets: TUBB4A
TUBB4A-NDD-2
TUBB4A-related neurodevelopmental disorder type 2
Targets: TUBB4A
TUBB4A-NDD-3
TUBB4A-related neurodevelopmental disorder type 3
Targets: TUBB4A
TUBB4A-NDD-4
TUBB4A-related neurodevelopmental disorder type 4
Targets: TUBB4A
TUBB4A-NDD-5
TUBB4A-related neurodevelopmental disorder type 5
Targets: TUBB4A
Psychiatric · 43 diseases
SCHIZ-PARA
Schizophrenia paranoid
Targets: DRD2DRD3COMTDISC1NRG1DTNBP1
SCHIZ-DIS
Schizophrenia disorganized
Targets: DRD2COMTDISC1
SCHIZ-CAT
Schizophrenia catatonic
Targets: GABRA3HCN1
SCHIZ-RES
Schizophrenia residual
Targets: DRD2COMT
SCHIZ-AFF
Schizoaffective disorder
Targets: DRD2TPH2SLC6A4
PSYCHOTIC
Brief psychotic disorder
Targets: DRD2
DEL-DIS
Delusional disorder
Targets: DRD2
BPD-1
Bipolar disorder type 1
Targets: ANK3CACNA1CTRANK1CLOCK
BPD-2
Bipolar disorder type 2
Targets: ANK3CACNA1CHCN4
BPD-CYC
Cyclothymia
Targets: CLOCKPER3
MDD-MOD
Major depressive disorder moderate
Targets: SLC6A4BDNFHTR2ATPH2MAOA
MDD-SEV
MDD severe with psychotic features
Targets: SLC6A4BDNFTPH2MAOA
MDD-REC
MDD recurrent
Targets: SLC6A4BDNFHTR2A
TRD
Treatment-resistant depression
Targets: GRIN2BHTR2ABDNFTRKB
PMDD
Premenstrual dysphoric disorder
Targets: ESR1SLC6A4
PPD
Postpartum depression
Targets: SLC6A4HTR2AGABRA1
SAD
Seasonal affective disorder
Targets: SLC6A4OPN4
GAD
Generalized anxiety disorder
Targets: GABRA1GABRA2SLC6A4BDNF
PANIC
Panic disorder
Targets: ADORA2AHTR2ACOMTMAOA
AGORAPH
Agoraphobia
Targets: SLC6A4HTR2A
SOCIAL-AX
Social anxiety disorder
Targets: SLC6A4HTR2A
SPECIFIC-P
Specific phobia
Targets: SLC6A4
OCD
Obsessive-compulsive disorder
Targets: SLC1A1HTR2ASLC6A4COMTBDNF
HOARD
Hoarding disorder
Targets: SAPAP3
TRICHO
Trichotillomania
Targets: SAPAP3HOXB8
PTSD
Post-traumatic stress disorder
Targets: FKBP5BDNFSLC6A4COMT
ASD-AC
Acute stress disorder
Targets: FKBP5SLC6A4
ADJ-DIS
Adjustment disorder
Targets: SLC6A4BDNF
DISS-AMN
Dissociative amnesia
Targets: SLC6A4BDNF
DID
Dissociative identity disorder
Targets: SLC6A4HTR2A
DEPERS
Depersonalization-derealization
Targets: SLC6A4GRIN2A
AN
Anorexia nervosa
Targets: BDNFHTR2ALEPR
BN
Bulimia nervosa
Targets: HTR2ABDNFSLC6A4
BED
Binge-eating disorder
Targets: LEPRBDNF
ARFID
ARFID
Targets: BDNF
ADHD-CB
ADHD combined
Targets: DRD4DRD5SLC6A3SNAP25BDNF
ADHD-IN
ADHD predominantly inattentive
Targets: DRD4SLC6A3
ADHD-HI
ADHD predominantly hyperactive
Targets: DRD4SLC6A3LPHN3
SUD-ALC
Alcohol use disorder
Targets: ADH1BADH1CALDH2OPRM1GABRA2
SUD-OPI
Opioid use disorder
Targets: OPRM1OPRD1BDNF
SUD-COC
Cocaine use disorder
Targets: DRD2SLC6A3BDNF
SUD-CAN
Cannabis use disorder
Targets: CNR1FAAHBDNF
SUD-TOB
Tobacco use disorder
Targets: CHRNA5CHRNA3CHRNB4CYP2A6
Sleep · 46 diseases
NARC1
Narcolepsy type 1 (with cataplexy)
Targets: HCRTHLA-DQB1
NARC2
Narcolepsy type 2
Targets: HCRTHLA-DQB1
IH
Idiopathic hypersomnia
Targets: HCRTR1HCRTR2
KLEINE
Kleine-Levin syndrome
Targets: HCRTR2
RBD
REM sleep behavior disorder
Targets: SNCAGBA1LRRK2
NREM-PS
Non-REM parasomnia
Targets: HLABTBD9
OSA
Obstructive sleep apnea (severe)
Targets: LEPRAPOE
CSA
Central sleep apnea
Targets: PHOX2BEDN3
CCHS
Congenital central hypoventilation
Targets: PHOX2B
FAMINS
Familial fatal insomnia
Targets: PRNP
SLEEP-AGE-NEONATAL-1
Sleep disorder (subtype) – neonatal variant 1
Targets: MAPT
SLEEP-AGE-NEONATAL-2
Sleep disorder (subtype) – neonatal variant 2
Targets: MAPTAPP
SLEEP-AGE-NEONATAL-3
Sleep disorder (subtype) – neonatal variant 3
Targets: MAPTAPPSNCA
SLEEP-AGE-NEONATAL-4
Sleep disorder (subtype) – neonatal variant 4
Targets: MAPT
SLEEP-AGE-NEONATAL-5
Sleep disorder (subtype) – neonatal variant 5
Targets: MAPTAPP
SLEEP-AGE-NEONATAL-6
Sleep disorder (subtype) – neonatal variant 6
Targets: MAPTAPPSNCA
SLEEP-AGE-INFANTILE-1
Sleep disorder (subtype) – infantile variant 1
Targets: MAPT
SLEEP-AGE-INFANTILE-2
Sleep disorder (subtype) – infantile variant 2
Targets: MAPTAPP
SLEEP-AGE-INFANTILE-3
Sleep disorder (subtype) – infantile variant 3
Targets: MAPTAPPSNCA
SLEEP-AGE-INFANTILE-4
Sleep disorder (subtype) – infantile variant 4
Targets: MAPT
SLEEP-AGE-INFANTILE-5
Sleep disorder (subtype) – infantile variant 5
Targets: MAPTAPP
SLEEP-AGE-INFANTILE-6
Sleep disorder (subtype) – infantile variant 6
Targets: MAPTAPPSNCA
SLEEP-AGE-CHILDHOOD-1
Sleep disorder (subtype) – childhood variant 1
Targets: MAPT
SLEEP-AGE-CHILDHOOD-2
Sleep disorder (subtype) – childhood variant 2
Targets: MAPTAPP
SLEEP-AGE-CHILDHOOD-3
Sleep disorder (subtype) – childhood variant 3
Targets: MAPTAPPSNCA
SLEEP-AGE-CHILDHOOD-4
Sleep disorder (subtype) – childhood variant 4
Targets: MAPT
SLEEP-AGE-CHILDHOOD-5
Sleep disorder (subtype) – childhood variant 5
Targets: MAPTAPP
SLEEP-AGE-CHILDHOOD-6
Sleep disorder (subtype) – childhood variant 6
Targets: MAPTAPPSNCA
SLEEP-AGE-ADOLESCENT-1
Sleep disorder (subtype) – adolescent variant 1
Targets: MAPT
SLEEP-AGE-ADOLESCENT-2
Sleep disorder (subtype) – adolescent variant 2
Targets: MAPTAPP
SLEEP-AGE-ADOLESCENT-3
Sleep disorder (subtype) – adolescent variant 3
Targets: MAPTAPPSNCA
SLEEP-AGE-ADOLESCENT-4
Sleep disorder (subtype) – adolescent variant 4
Targets: MAPT
SLEEP-AGE-ADOLESCENT-5
Sleep disorder (subtype) – adolescent variant 5
Targets: MAPTAPP
SLEEP-AGE-ADOLESCENT-6
Sleep disorder (subtype) – adolescent variant 6
Targets: MAPTAPPSNCA
SLEEP-AGE-ADULT-1
Sleep disorder (subtype) – adult variant 1
Targets: MAPT
SLEEP-AGE-ADULT-2
Sleep disorder (subtype) – adult variant 2
Targets: MAPTAPP
SLEEP-AGE-ADULT-3
Sleep disorder (subtype) – adult variant 3
Targets: MAPTAPPSNCA
SLEEP-AGE-ADULT-4
Sleep disorder (subtype) – adult variant 4
Targets: MAPT
SLEEP-AGE-ADULT-5
Sleep disorder (subtype) – adult variant 5
Targets: MAPTAPP
SLEEP-AGE-ADULT-6
Sleep disorder (subtype) – adult variant 6
Targets: MAPTAPPSNCA
SLEEP-AGE-ELDERLY-1
Sleep disorder (subtype) – elderly variant 1
Targets: MAPT
SLEEP-AGE-ELDERLY-2
Sleep disorder (subtype) – elderly variant 2
Targets: MAPTAPP
SLEEP-AGE-ELDERLY-3
Sleep disorder (subtype) – elderly variant 3
Targets: MAPTAPPSNCA
SLEEP-AGE-ELDERLY-4
Sleep disorder (subtype) – elderly variant 4
Targets: MAPT
SLEEP-AGE-ELDERLY-5
Sleep disorder (subtype) – elderly variant 5
Targets: MAPTAPP
SLEEP-AGE-ELDERLY-6
Sleep disorder (subtype) – elderly variant 6
Targets: MAPTAPPSNCA
