NeuroPrecision-Engine

Disease Catalog

791 ICD-10 categorised CNS / systemic-with-CNS-involvement diseases — search by disease name, ID, ICD-10 code, or target gene.
791
Total Diseases
13
Categories
148
critical
295
high
332
moderate
16
low

Cerebrovascular · 15 diseases

AIS-LARGE
Acute ischemic stroke (large vessel)
I63.50 critical 200k/yr US
Targets: F2F5APOEHMGCR
AIS-SMALL
Acute ischemic stroke (small vessel)
I63.81 high 300k/yr US
Targets: NOTCH3HTRA1COL4A1
AIS-CARD
Cardioembolic stroke
I63.40 critical 150k/yr US
Targets: F5PROCPROS1
CRYPTO
Cryptogenic stroke
I63.9 high 120k/yr US
Targets: F2PROC
TIA
Transient ischemic attack
G45.9 moderate 240k/yr US
Targets: F2F5
ICH
Intracerebral hemorrhage
I61.9 critical 90k/yr US
Targets: APOECOL4A1COL4A2APP
SAH
Subarachnoid hemorrhage
I60.9 critical 30k/yr US
Targets: ANIB1PKD1COL3A1
CAA
Cerebral amyloid angiopathy
I68.0 critical 0.1M US
Targets: APPAPOECST3
CADASIL
CADASIL
I67.850 critical 0.005M US
Targets: NOTCH3
CARASIL
CARASIL
I67.850 critical 0.0005M US
Targets: HTRA1
MOYAMOYA
Moyamoya disease
I67.5 critical 0.005M US
Targets: RNF213BRCC3
VASCDEM
Vascular dementia
F01.50 critical 1.5M US
Targets: APOENOTCH3HTRA1
CVST
Cerebral venous sinus thrombosis
I67.6 critical 0.005M US
Targets: F2F5MTHFR
SUSAC
Susac syndrome
I67.81 high 0.0005M US
Targets: HLA
BINSWANGER
Binswanger disease
I67.3 high 0.5M US
Targets: NOTCH3APOE

Demyelinating · 15 diseases

MS-RR
MS relapsing-remitting
G35 high 0.7M US
Targets: HLA-DRB1IL2RAIL7RCYP27B1
MS-PP
MS primary progressive
G35 critical 0.1M US
Targets: HLA-DRB1TNFRSF1A
MS-SP
MS secondary progressive
G35 critical 0.2M US
Targets: HLA-DRB1IL2RA
CIS
Clinically isolated syndrome
G36.9 moderate 0.05M US
Targets: HLA-DRB1
NMO
Neuromyelitis optica (AQP4-IgG)
G36.0 critical 0.02M US
Targets: AQP4HLA-DPB1
MOGAD
MOG antibody-associated disease
G36.0 high 0.01M US
Targets: MOGHLA-DRB1
ADEM
Acute disseminated encephalomyelitis
G36.9 high 0.001M US
Targets: HLAMBP
TM
Transverse myelitis
G37.3 high 0.005M US
Targets: HLA-DRB1
ON
Optic neuritis
H46.9 moderate 0.025M US
Targets: MOGHLA
PML
Progressive multifocal leukoencephalopathy
A81.2 critical 0.001M US
Targets: JC virus
NMO-spec
NMO spectrum disorder seronegative
G36.0 critical 0.005M US
Targets: AQP4
CCPD
Combined CNS-PNS demyelinating disease
G36.9 high 0.0005M US
Targets: MOGMAG
BALO
Balo concentric sclerosis
G37.5 critical 0.0001M US
Targets: MBP
SCHILDER
Schilder disease
G37.0 critical 0.0001M US
Targets: MBP
MARBURG
Marburg variant of MS
G35 critical 0.0001M US
Targets: HLA

Epilepsy · 64 diseases

EP-FOC
Focal epilepsy unspecified
G40.209 moderate 1.5M US
Targets: SCN1ASCN2ASCN8AKCNQ2
TLE-mes
Mesial temporal lobe epilepsy
G40.211 high 0.5M US
Targets: SCN1ALGI1GABRG2
TLE-lat
Lateral temporal lobe epilepsy
G40.211 high 0.1M US
Targets: LGI1SCN1A
FLE
Frontal lobe epilepsy
G40.219 moderate 0.4M US
Targets: CHRNA4CHRNB2KCNT1
OLE
Occipital lobe epilepsy
G40.211 moderate 0.05M US
Targets: CACNA1A
PLE
Parietal lobe epilepsy
G40.211 moderate 0.05M US
Targets: CACNA1A
GGE
Genetic generalized epilepsy
G40.309 moderate 0.6M US
Targets: GABRG2SLC2A1EFHC1
CAE
Childhood absence epilepsy
G40.309 moderate 0.05M US
Targets: GABRG2CACNA1HSLC2A1
JAE
Juvenile absence epilepsy
G40.309 moderate 0.03M US
Targets: GABRA1GABRG2
JME
Juvenile myoclonic epilepsy
G40.309 moderate 0.4M US
Targets: EFHC1GABRA1CACNB4
GTC
Generalized tonic-clonic only
G40.409 moderate 0.1M US
Targets: SCN1AGABRG2
DRAVET
Dravet syndrome
G40.83 critical 0.005M US
Targets: SCN1ASCN2ASCN8AGABRA1
LGS
Lennox-Gastaut syndrome
G40.812 critical 0.05M US
Targets: SCN1ASCN2ACHD2GABRB3
WEST
West syndrome / infantile spasms
G40.821 critical 0.005M US
Targets: ARXCDKL5STXBP1TSC1TSC2
OHTAHARA
Ohtahara syndrome
G40.823 critical 0.001M US
Targets: STXBP1KCNQ2SCN2A
CDKL5
CDKL5 deficiency disorder
G40.42 critical 0.002M US
Targets: CDKL5
PCDH19
PCDH19 epilepsy
G40.42 critical 0.005M US
Targets: PCDH19
GLUT1
GLUT1 deficiency syndrome
G40.4 high 0.0005M US
Targets: SLC2A1
PME-LAFORA
Lafora disease
G40.3 critical 0.0005M US
Targets: EPM2ANHLRC1
PME-UNVL
Unverricht-Lundborg
G40.3 high 0.001M US
Targets: CSTB
NCL-CLN1
Neuronal ceroid lipofuscinosis CLN1
E75.4 critical 0.0005M US
Targets: CLN1PPT1
NCL-CLN2
NCL CLN2 (LINCL)
E75.4 critical 0.001M US
Targets: CLN2TPP1
NCL-CLN3
NCL CLN3 (juvenile Batten)
E75.4 critical 0.002M US
Targets: CLN3
NCL-CLN5
NCL CLN5
E75.4 critical 0.0001M US
Targets: CLN5
NCL-CLN6
NCL CLN6
E75.4 critical 0.0001M US
Targets: CLN6
NCL-CLN7
NCL CLN7
E75.4 critical 0.0001M US
Targets: MFSD8
NCL-CLN8
NCL CLN8
E75.4 critical 0.0001M US
Targets: CLN8
NCL-CLN10
NCL CLN10 (congenital)
E75.4 critical 0.00005M US
Targets: CTSD
EP-AGE-NEONATAL-1
Epilepsy syndrome (subtype) – neonatal variant 1
G40.0 moderate 0.005M US
Targets: MAPT
EP-AGE-NEONATAL-2
Epilepsy syndrome (subtype) – neonatal variant 2
G40.1 moderate 0.005M US
Targets: MAPTAPP
EP-AGE-NEONATAL-3
Epilepsy syndrome (subtype) – neonatal variant 3
G40.2 moderate 0.005M US
Targets: MAPTAPPSNCA
EP-AGE-NEONATAL-4
Epilepsy syndrome (subtype) – neonatal variant 4
G40.3 moderate 0.005M US
Targets: MAPT
EP-AGE-NEONATAL-5
Epilepsy syndrome (subtype) – neonatal variant 5
G40.4 moderate 0.005M US
Targets: MAPTAPP
EP-AGE-NEONATAL-6
Epilepsy syndrome (subtype) – neonatal variant 6
G40.5 moderate 0.005M US
Targets: MAPTAPPSNCA
EP-AGE-INFANTILE-1
Epilepsy syndrome (subtype) – infantile variant 1
G40.1 moderate 0.005M US
Targets: MAPT
EP-AGE-INFANTILE-2
Epilepsy syndrome (subtype) – infantile variant 2
G40.2 moderate 0.005M US
Targets: MAPTAPP
EP-AGE-INFANTILE-3
Epilepsy syndrome (subtype) – infantile variant 3
G40.3 moderate 0.005M US
Targets: MAPTAPPSNCA
EP-AGE-INFANTILE-4
Epilepsy syndrome (subtype) – infantile variant 4
G40.4 moderate 0.005M US
Targets: MAPT
EP-AGE-INFANTILE-5
Epilepsy syndrome (subtype) – infantile variant 5
G40.5 moderate 0.005M US
Targets: MAPTAPP
EP-AGE-INFANTILE-6
Epilepsy syndrome (subtype) – infantile variant 6
G40.6 moderate 0.005M US
Targets: MAPTAPPSNCA
EP-AGE-CHILDHOOD-1
Epilepsy syndrome (subtype) – childhood variant 1
G40.2 moderate 0.005M US
Targets: MAPT
EP-AGE-CHILDHOOD-2
Epilepsy syndrome (subtype) – childhood variant 2
G40.3 moderate 0.005M US
Targets: MAPTAPP
EP-AGE-CHILDHOOD-3
Epilepsy syndrome (subtype) – childhood variant 3
G40.4 moderate 0.005M US
Targets: MAPTAPPSNCA
EP-AGE-CHILDHOOD-4
Epilepsy syndrome (subtype) – childhood variant 4
G40.5 moderate 0.005M US
Targets: MAPT
EP-AGE-CHILDHOOD-5
Epilepsy syndrome (subtype) – childhood variant 5
G40.6 moderate 0.005M US
Targets: MAPTAPP
EP-AGE-CHILDHOOD-6
Epilepsy syndrome (subtype) – childhood variant 6
G40.7 moderate 0.005M US
Targets: MAPTAPPSNCA
EP-AGE-ADOLESCENT-1
Epilepsy syndrome (subtype) – adolescent variant 1
G40.3 moderate 0.005M US
Targets: MAPT
EP-AGE-ADOLESCENT-2
Epilepsy syndrome (subtype) – adolescent variant 2
G40.4 moderate 0.005M US
Targets: MAPTAPP
EP-AGE-ADOLESCENT-3
Epilepsy syndrome (subtype) – adolescent variant 3
G40.5 moderate 0.005M US
Targets: MAPTAPPSNCA
EP-AGE-ADOLESCENT-4
Epilepsy syndrome (subtype) – adolescent variant 4
G40.6 moderate 0.005M US
Targets: MAPT
EP-AGE-ADOLESCENT-5
Epilepsy syndrome (subtype) – adolescent variant 5
G40.7 moderate 0.005M US
Targets: MAPTAPP
EP-AGE-ADOLESCENT-6
Epilepsy syndrome (subtype) – adolescent variant 6
G40.8 moderate 0.005M US
Targets: MAPTAPPSNCA
EP-AGE-ADULT-1
Epilepsy syndrome (subtype) – adult variant 1
G40.4 moderate 0.005M US
Targets: MAPT
EP-AGE-ADULT-2
Epilepsy syndrome (subtype) – adult variant 2
G40.5 moderate 0.005M US
Targets: MAPTAPP
EP-AGE-ADULT-3
Epilepsy syndrome (subtype) – adult variant 3
G40.6 moderate 0.005M US
Targets: MAPTAPPSNCA
EP-AGE-ADULT-4
Epilepsy syndrome (subtype) – adult variant 4
G40.7 moderate 0.005M US
Targets: MAPT
EP-AGE-ADULT-5
Epilepsy syndrome (subtype) – adult variant 5
G40.8 moderate 0.005M US
Targets: MAPTAPP
EP-AGE-ADULT-6
Epilepsy syndrome (subtype) – adult variant 6
G40.9 moderate 0.005M US
Targets: MAPTAPPSNCA
EP-AGE-ELDERLY-1
Epilepsy syndrome (subtype) – elderly variant 1
G40.5 moderate 0.005M US
Targets: MAPT
EP-AGE-ELDERLY-2
Epilepsy syndrome (subtype) – elderly variant 2
G40.6 moderate 0.005M US
Targets: MAPTAPP
EP-AGE-ELDERLY-3
Epilepsy syndrome (subtype) – elderly variant 3
G40.7 moderate 0.005M US
Targets: MAPTAPPSNCA
EP-AGE-ELDERLY-4
Epilepsy syndrome (subtype) – elderly variant 4
G40.8 moderate 0.005M US
Targets: MAPT
EP-AGE-ELDERLY-5
Epilepsy syndrome (subtype) – elderly variant 5
G40.9 moderate 0.005M US
Targets: MAPTAPP
EP-AGE-ELDERLY-6
Epilepsy syndrome (subtype) – elderly variant 6
G40.0 moderate 0.005M US
Targets: MAPTAPPSNCA

Headache · 48 diseases

MIG-NA
Migraine without aura
G43.009 moderate 12M US
Targets: CACNA1AATP1A2SCN1A
MIG-A
Migraine with aura
G43.109 moderate 5M US
Targets: CACNA1AATP1A2SCN1ATRPM8
MIG-CHRON
Chronic migraine
G43.709 high 4M US
Targets: CALCACGRP-receptorTRPV1
FHM1
Familial hemiplegic migraine type 1
G43.401 high 0.001M US
Targets: CACNA1A
FHM2
Familial hemiplegic migraine type 2
G43.401 high 0.001M US
Targets: ATP1A2
FHM3
Familial hemiplegic migraine type 3
G43.401 high 0.0005M US
Targets: SCN1A
CLUSTER
Cluster headache
G44.009 high 0.4M US
Targets: HCRTR2CLOCKPER1
TTH-EP
Episodic tension-type headache
G44.219 low 50M US
Targets: NR4A1BDNF
TTH-CHR
Chronic tension-type headache
G44.229 moderate 5M US
Targets: NR4A1
SUNCT
SUNCT syndrome
G44.059 high 0.001M US
Targets: HCRTR2
HEMICRANIA
Paroxysmal hemicrania
G44.039 moderate 0.005M US
Targets: HCRTR2
NDPH
New daily persistent headache
G44.59 moderate 0.05M US
Targets: BDNF
HEAD-AGE-NEONATAL-1
Headache (subtype) – neonatal variant 1
G44.0 moderate 0.005M US
Targets: MAPT
HEAD-AGE-NEONATAL-2
Headache (subtype) – neonatal variant 2
G44.1 moderate 0.005M US
Targets: MAPTAPP
HEAD-AGE-NEONATAL-3
Headache (subtype) – neonatal variant 3
G44.2 moderate 0.005M US
Targets: MAPTAPPSNCA
HEAD-AGE-NEONATAL-4
Headache (subtype) – neonatal variant 4
G44.3 moderate 0.005M US
Targets: MAPT
HEAD-AGE-NEONATAL-5
Headache (subtype) – neonatal variant 5
G44.4 moderate 0.005M US
Targets: MAPTAPP
HEAD-AGE-NEONATAL-6
Headache (subtype) – neonatal variant 6
G44.5 moderate 0.005M US
Targets: MAPTAPPSNCA
HEAD-AGE-INFANTILE-1
Headache (subtype) – infantile variant 1
G44.1 moderate 0.005M US
Targets: MAPT
HEAD-AGE-INFANTILE-2
Headache (subtype) – infantile variant 2
G44.2 moderate 0.005M US
Targets: MAPTAPP
HEAD-AGE-INFANTILE-3
Headache (subtype) – infantile variant 3
G44.3 moderate 0.005M US
Targets: MAPTAPPSNCA
HEAD-AGE-INFANTILE-4
Headache (subtype) – infantile variant 4
G44.4 moderate 0.005M US
Targets: MAPT
HEAD-AGE-INFANTILE-5
Headache (subtype) – infantile variant 5
G44.5 moderate 0.005M US
Targets: MAPTAPP
HEAD-AGE-INFANTILE-6
Headache (subtype) – infantile variant 6
G44.6 moderate 0.005M US
Targets: MAPTAPPSNCA
HEAD-AGE-CHILDHOOD-1
Headache (subtype) – childhood variant 1
G44.2 moderate 0.005M US
Targets: MAPT
HEAD-AGE-CHILDHOOD-2
Headache (subtype) – childhood variant 2
G44.3 moderate 0.005M US
Targets: MAPTAPP
HEAD-AGE-CHILDHOOD-3
Headache (subtype) – childhood variant 3
G44.4 moderate 0.005M US
Targets: MAPTAPPSNCA
HEAD-AGE-CHILDHOOD-4
Headache (subtype) – childhood variant 4
G44.5 moderate 0.005M US
Targets: MAPT
HEAD-AGE-CHILDHOOD-5
Headache (subtype) – childhood variant 5
G44.6 moderate 0.005M US
Targets: MAPTAPP
HEAD-AGE-CHILDHOOD-6
Headache (subtype) – childhood variant 6
G44.7 moderate 0.005M US
Targets: MAPTAPPSNCA
HEAD-AGE-ADOLESCENT-1
Headache (subtype) – adolescent variant 1
G44.3 moderate 0.005M US
Targets: MAPT
HEAD-AGE-ADOLESCENT-2
Headache (subtype) – adolescent variant 2
G44.4 moderate 0.005M US
Targets: MAPTAPP
HEAD-AGE-ADOLESCENT-3
Headache (subtype) – adolescent variant 3
G44.5 moderate 0.005M US
Targets: MAPTAPPSNCA
HEAD-AGE-ADOLESCENT-4
Headache (subtype) – adolescent variant 4
G44.6 moderate 0.005M US
Targets: MAPT
HEAD-AGE-ADOLESCENT-5
Headache (subtype) – adolescent variant 5
G44.7 moderate 0.005M US
Targets: MAPTAPP
HEAD-AGE-ADOLESCENT-6
Headache (subtype) – adolescent variant 6
G44.8 moderate 0.005M US
Targets: MAPTAPPSNCA
HEAD-AGE-ADULT-1
Headache (subtype) – adult variant 1
G44.4 moderate 0.005M US
Targets: MAPT
HEAD-AGE-ADULT-2
Headache (subtype) – adult variant 2
G44.5 moderate 0.005M US
Targets: MAPTAPP
HEAD-AGE-ADULT-3
Headache (subtype) – adult variant 3
G44.6 moderate 0.005M US
Targets: MAPTAPPSNCA
HEAD-AGE-ADULT-4
Headache (subtype) – adult variant 4
G44.7 moderate 0.005M US
Targets: MAPT
HEAD-AGE-ADULT-5
Headache (subtype) – adult variant 5
G44.8 moderate 0.005M US
Targets: MAPTAPP
HEAD-AGE-ADULT-6
Headache (subtype) – adult variant 6
G44.9 moderate 0.005M US
Targets: MAPTAPPSNCA
HEAD-AGE-ELDERLY-1
Headache (subtype) – elderly variant 1
G44.5 moderate 0.005M US
Targets: MAPT
HEAD-AGE-ELDERLY-2
Headache (subtype) – elderly variant 2
G44.6 moderate 0.005M US
Targets: MAPTAPP
HEAD-AGE-ELDERLY-3
Headache (subtype) – elderly variant 3
G44.7 moderate 0.005M US
Targets: MAPTAPPSNCA
HEAD-AGE-ELDERLY-4
Headache (subtype) – elderly variant 4
G44.8 moderate 0.005M US
Targets: MAPT
HEAD-AGE-ELDERLY-5
Headache (subtype) – elderly variant 5
G44.9 moderate 0.005M US
Targets: MAPTAPP
HEAD-AGE-ELDERLY-6
Headache (subtype) – elderly variant 6
G44.0 moderate 0.005M US
Targets: MAPTAPPSNCA

Metabolic/LSD · 44 diseases

GAUCHER1
Gaucher disease type 1
E75.22 moderate 0.005M US
Targets: GBA1
GAUCHER2
Gaucher disease type 2 (acute neuro)
E75.22 critical 0.0005M US
Targets: GBA1
GAUCHER3
Gaucher disease type 3 (chronic neuro)
E75.22 critical 0.0005M US
Targets: GBA1
NPC
Niemann-Pick type C
E75.241 critical 0.001M US
Targets: NPC1NPC2
NPA
Niemann-Pick type A
E75.240 critical 0.0005M US
Targets: SMPD1
NPB
Niemann-Pick type B
E75.240 high 0.001M US
Targets: SMPD1
TAY-SACHS
Tay-Sachs disease
E75.02 critical 0.0001M US
Targets: HEXA
SANDHOFF
Sandhoff disease
E75.01 critical 0.0001M US
Targets: HEXB
FABRY
Fabry disease
E75.21 high 0.005M US
Targets: GLA
POMPE-IO
Pompe disease (infantile-onset)
E74.02 critical 0.001M US
Targets: GAA
POMPE-LO
Pompe disease (late-onset)
E74.02 high 0.005M US
Targets: GAA
MPS1
Mucopolysaccharidosis I (Hurler)
E76.01 critical 0.001M US
Targets: IDUA
MPS2
MPS II (Hunter)
E76.1 critical 0.001M US
Targets: IDS
MPS3A
MPS IIIA (Sanfilippo A)
E76.22 critical 0.001M US
Targets: SGSH
MPS3B
MPS IIIB (Sanfilippo B)
E76.22 critical 0.0005M US
Targets: NAGLU
MPS3C
MPS IIIC (Sanfilippo C)
E76.22 critical 0.0001M US
Targets: HGSNAT
MPS3D
MPS IIID (Sanfilippo D)
E76.22 critical 0.0001M US
Targets: GNS
MPS4A
MPS IVA (Morquio A)
E76.219 high 0.001M US
Targets: GALNS
MPS6
MPS VI (Maroteaux-Lamy)
E76.29 high 0.0005M US
Targets: ARSB
MPS7
MPS VII (Sly)
E76.29 critical 0.0001M US
Targets: GUSB
KRABBE
Krabbe disease
E75.23 critical 0.0005M US
Targets: GALC
MLD-LO
Metachromatic leukodystrophy late-onset
E75.25 high 0.001M US
Targets: ARSAPSAP
MLD-IO
Metachromatic leukodystrophy infantile
E75.25 critical 0.0005M US
Targets: ARSA
ALD-X
X-linked adrenoleukodystrophy
E71.528 critical 0.005M US
Targets: ABCD1
AMN
Adrenomyeloneuropathy
E71.52 high 0.005M US
Targets: ABCD1
ALEXANDER
Alexander disease
E75.29 critical 0.0001M US
Targets: GFAP
CANAVAN
Canavan disease
E75.29 critical 0.0005M US
Targets: ASPA
ZELLWEG
Zellweger syndrome
E71.510 critical 0.0001M US
Targets: PEX1PEX6PEX10
PMD
Pelizaeus-Merzbacher disease
E75.29 critical 0.0005M US
Targets: PLP1
VWM
Vanishing white matter disease
E75.29 critical 0.0001M US
Targets: EIF2B1EIF2B2EIF2B3EIF2B4EIF2B5
HBSL
Hypomyelination with brainstem/spinal
E75.29 high 0.00005M US
Targets: DARS
CACH-VWM
CACH/VWM
E75.29 critical 0.0001M US
Targets: EIF2B5
GAN
Giant axonal neuropathy
G60.8 critical 0.00005M US
Targets: GAN
CTX
Cerebrotendinous xanthomatosis
E75.5 high 0.0001M US
Targets: CYP27A1
PKAN-NBIA
NBIA-PKAN
G23.0 high 0.0005M US
Targets: PANK2
PEPCK
PEPCK deficiency
E74.0 critical 0.00005M US
Targets: PCK1PCK2
OTC
OTC deficiency (urea cycle)
E72.4 critical 0.005M US
Targets: OTC
CITRULL1
Citrullinemia type 1
E72.23 critical 0.001M US
Targets: ASS1
CITRULL2
Citrullinemia type 2
E72.23 high 0.0005M US
Targets: SLC25A13
PKU
Phenylketonuria
E70.0 high 0.015M US
Targets: PAH
MSUD
Maple syrup urine disease
E71.0 critical 0.001M US
Targets: BCKDHABCKDHBDBT
HOMOCYS
Homocystinuria classic
E72.11 high 0.001M US
Targets: CBS
GAL-DUARTE
Galactosemia (Duarte)
E74.21 low 0.05M US
Targets: GALT
GAL-CL
Galactosemia classic
E74.21 critical 0.001M US
Targets: GALT

Movement · 55 diseases

ET
Essential tremor
G25.0 moderate 7M US
Targets: LINGO1SLC1A2HTRA2
DYST-FOC
Focal dystonia
G24.8 moderate 0.3M US
Targets: THAP1TOR1AGNAL
DYST-CD
Cervical dystonia
G24.3 moderate 0.06M US
Targets: THAP1GNAL
DYST-BLEPH
Blepharospasm
G24.5 moderate 0.05M US
Targets: DYT1THAP1
DYST-OMD
Oromandibular dystonia
G24.4 moderate 0.005M US
Targets: THAP1TOR1A
DYT1
Generalized DYT1 dystonia
G24.1 high 0.005M US
Targets: TOR1A
DYT3
X-linked dystonia-parkinsonism (DYT3)
G24.1 high 0.001M US
Targets: TAF1
DYT5
Dopa-responsive dystonia
G24.1 moderate 0.001M US
Targets: GCH1THSPR
DYT11
Myoclonus-dystonia
G24.1 moderate 0.001M US
Targets: SGCE
DYT12
Rapid-onset dystonia-parkinsonism
G24.1 high 0.0001M US
Targets: ATP1A3
TS
Tourette syndrome
F95.2 moderate 0.5M US
Targets: SLITRK1HDCNRXN1
CHOREA-S
Chorea-acanthocytosis
G25.5 high 0.001M US
Targets: VPS13A
NA
Neuroacanthocytosis (McLeod)
G25.5 high 0.0005M US
Targets: XK
WILSON
Wilson disease
E83.01 high 0.01M US
Targets: ATP7B
RLS
Restless legs syndrome
G25.81 moderate 12M US
Targets: MEIS1BTBD9MAP2K5
PMD
Periodic limb movement disorder
G47.61 low 4M US
Targets: MEIS1
STIFF-MAN
Stiff-person syndrome
G25.82 high 0.001M US
Targets: GAD1AMPH
HEMIBALL
Hemiballismus
G25.5 moderate 0.005M US
Targets: DRD2
PAROXYSMAL
Paroxysmal dyskinesias
G24.8 moderate 0.005M US
Targets: PRRT2MR1
MOV-AGE-NEONATAL-1
Movement disorder (subtype) – neonatal variant 1
G25.0 moderate 0.005M US
Targets: MAPT
MOV-AGE-NEONATAL-2
Movement disorder (subtype) – neonatal variant 2
G25.1 moderate 0.005M US
Targets: MAPTAPP
MOV-AGE-NEONATAL-3
Movement disorder (subtype) – neonatal variant 3
G25.2 moderate 0.005M US
Targets: MAPTAPPSNCA
MOV-AGE-NEONATAL-4
Movement disorder (subtype) – neonatal variant 4
G25.3 moderate 0.005M US
Targets: MAPT
MOV-AGE-NEONATAL-5
Movement disorder (subtype) – neonatal variant 5
G25.4 moderate 0.005M US
Targets: MAPTAPP
MOV-AGE-NEONATAL-6
Movement disorder (subtype) – neonatal variant 6
G25.5 moderate 0.005M US
Targets: MAPTAPPSNCA
MOV-AGE-INFANTILE-1
Movement disorder (subtype) – infantile variant 1
G25.1 moderate 0.005M US
Targets: MAPT
MOV-AGE-INFANTILE-2
Movement disorder (subtype) – infantile variant 2
G25.2 moderate 0.005M US
Targets: MAPTAPP
MOV-AGE-INFANTILE-3
Movement disorder (subtype) – infantile variant 3
G25.3 moderate 0.005M US
Targets: MAPTAPPSNCA
MOV-AGE-INFANTILE-4
Movement disorder (subtype) – infantile variant 4
G25.4 moderate 0.005M US
Targets: MAPT
MOV-AGE-INFANTILE-5
Movement disorder (subtype) – infantile variant 5
G25.5 moderate 0.005M US
Targets: MAPTAPP
MOV-AGE-INFANTILE-6
Movement disorder (subtype) – infantile variant 6
G25.6 moderate 0.005M US
Targets: MAPTAPPSNCA
MOV-AGE-CHILDHOOD-1
Movement disorder (subtype) – childhood variant 1
G25.2 moderate 0.005M US
Targets: MAPT
MOV-AGE-CHILDHOOD-2
Movement disorder (subtype) – childhood variant 2
G25.3 moderate 0.005M US
Targets: MAPTAPP
MOV-AGE-CHILDHOOD-3
Movement disorder (subtype) – childhood variant 3
G25.4 moderate 0.005M US
Targets: MAPTAPPSNCA
MOV-AGE-CHILDHOOD-4
Movement disorder (subtype) – childhood variant 4
G25.5 moderate 0.005M US
Targets: MAPT
MOV-AGE-CHILDHOOD-5
Movement disorder (subtype) – childhood variant 5
G25.6 moderate 0.005M US
Targets: MAPTAPP
MOV-AGE-CHILDHOOD-6
Movement disorder (subtype) – childhood variant 6
G25.7 moderate 0.005M US
Targets: MAPTAPPSNCA
MOV-AGE-ADOLESCENT-1
Movement disorder (subtype) – adolescent variant 1
G25.3 moderate 0.005M US
Targets: MAPT
MOV-AGE-ADOLESCENT-2
Movement disorder (subtype) – adolescent variant 2
G25.4 moderate 0.005M US
Targets: MAPTAPP
MOV-AGE-ADOLESCENT-3
Movement disorder (subtype) – adolescent variant 3
G25.5 moderate 0.005M US
Targets: MAPTAPPSNCA
MOV-AGE-ADOLESCENT-4
Movement disorder (subtype) – adolescent variant 4
G25.6 moderate 0.005M US
Targets: MAPT
MOV-AGE-ADOLESCENT-5
Movement disorder (subtype) – adolescent variant 5
G25.7 moderate 0.005M US
Targets: MAPTAPP
MOV-AGE-ADOLESCENT-6
Movement disorder (subtype) – adolescent variant 6
G25.8 moderate 0.005M US
Targets: MAPTAPPSNCA
MOV-AGE-ADULT-1
Movement disorder (subtype) – adult variant 1
G25.4 moderate 0.005M US
Targets: MAPT
MOV-AGE-ADULT-2
Movement disorder (subtype) – adult variant 2
G25.5 moderate 0.005M US
Targets: MAPTAPP
MOV-AGE-ADULT-3
Movement disorder (subtype) – adult variant 3
G25.6 moderate 0.005M US
Targets: MAPTAPPSNCA
MOV-AGE-ADULT-4
Movement disorder (subtype) – adult variant 4
G25.7 moderate 0.005M US
Targets: MAPT
MOV-AGE-ADULT-5
Movement disorder (subtype) – adult variant 5
G25.8 moderate 0.005M US
Targets: MAPTAPP
MOV-AGE-ADULT-6
Movement disorder (subtype) – adult variant 6
G25.9 moderate 0.005M US
Targets: MAPTAPPSNCA
MOV-AGE-ELDERLY-1
Movement disorder (subtype) – elderly variant 1
G25.5 moderate 0.005M US
Targets: MAPT
MOV-AGE-ELDERLY-2
Movement disorder (subtype) – elderly variant 2
G25.6 moderate 0.005M US
Targets: MAPTAPP
MOV-AGE-ELDERLY-3
Movement disorder (subtype) – elderly variant 3
G25.7 moderate 0.005M US
Targets: MAPTAPPSNCA
MOV-AGE-ELDERLY-4
Movement disorder (subtype) – elderly variant 4
G25.8 moderate 0.005M US
Targets: MAPT
MOV-AGE-ELDERLY-5
Movement disorder (subtype) – elderly variant 5
G25.9 moderate 0.005M US
Targets: MAPTAPP
MOV-AGE-ELDERLY-6
Movement disorder (subtype) – elderly variant 6
G25.0 moderate 0.005M US
Targets: MAPTAPPSNCA

Neuro-Oncology · 53 diseases

GBM
Glioblastoma multiforme
C71.9 critical 14k/yr US
Targets: EGFRPTENPDGFRANF1IDH1TP53CDK4PIK3CA +2 more
GBM-IDHwt
GBM IDH-wildtype (WHO grade 4)
C71.9 critical 12k/yr US
Targets: EGFRPTENTP53CDK4MGMT
GBM-IDHmut
GBM IDH-mutant (WHO grade 4)
C71.9 critical 2k/yr US
Targets: IDH1TP53ATRXCICMGMT
GBM-MGMT
GBM MGMT-methylated
C71.9 high 5k/yr US
Targets: MGMTTP53EGFR
AAS-IDHmut
Anaplastic astrocytoma IDH-mut grade 3
C71.0 high 1.5k/yr
Targets: IDH1TP53ATRXCDKN2A
OLIGO
Oligodendroglioma 1p/19q codel
C71.0 high 1.5k/yr
Targets: IDH1CICFUBP1TERT
AOLIGO
Anaplastic oligodendroglioma
C71.0 high 0.6k/yr
Targets: IDH1CICFUBP1
PILOC
Pilocytic astrocytoma
C71.7 moderate 0.7k/yr
Targets: BRAFNF1
PXA
Pleomorphic xanthoastrocytoma
C71.0 moderate 0.05k/yr
Targets: BRAFCDKN2A
SEGA
Subependymal giant cell astrocytoma
C71.0 moderate 0.1k/yr
Targets: TSC1TSC2MTOR
GG
Ganglioglioma
C71.7 low 0.3k/yr
Targets: BRAFTSC2
DNET
Dysembryoplastic neuroepithelial tumor
C71.7 low 0.2k/yr
Targets: FGFR1BRAF
DIPG
Diffuse intrinsic pontine glioma
C71.7 critical 0.3k/yr
Targets: H3F3AACVR1PDGFRATP53PPM1DEZH2ATMMET +2 more
DMG-H3
Diffuse midline glioma H3 K27M
C71.7 critical 0.3k/yr
Targets: H3F3AHIST1H3BACVR1TP53
PXA-LIKE
Diffuse midline glioma H3-wildtype
C71.7 critical 0.05k/yr
Targets: EGFRTP53PDGFRA
MEDULLO
Medulloblastoma
C71.6 critical 0.5k/yr
Targets: MYCMYCNSHHPTCH1SUFUTP53
MEDULLO-WNT
Medulloblastoma WNT-activated
C71.6 high 0.05k/yr
Targets: CTNNB1TP53
MEDULLO-SHH
Medulloblastoma SHH-activated
C71.6 high 0.15k/yr
Targets: SHHPTCH1SUFUSMOMYCNTP53
MEDULLO-3
Medulloblastoma group 3 (MYC)
C71.6 critical 0.15k/yr
Targets: MYCOTX2SMARCA4
MEDULLO-4
Medulloblastoma group 4
C71.6 high 0.2k/yr
Targets: KDM6AMYCNSNCAIP
ATRT
Atypical teratoid/rhabdoid tumor
C71.7 critical 0.05k/yr
Targets: SMARCB1SMARCA4
EPEND
Ependymoma
C71.5 high 0.2k/yr
Targets: NF2RELAYAP1
EPEND-PFA
Posterior fossa ependymoma A
C71.6 high 0.1k/yr
Targets: EZHIPH3K27me3
EPEND-PFB
Posterior fossa ependymoma B
C71.6 moderate 0.05k/yr
Targets: EZH2RELA
SUBEPEND
Subependymoma
C71.5 low 0.05k/yr
Targets: NF2
CHRP
Choroid plexus carcinoma
C71.5 critical 0.02k/yr
Targets: TP53
CHRPpap
Choroid plexus papilloma
C71.5 low 0.05k/yr
Targets: NOTCH3TWIST1
PNET
CNS embryonal tumor (formerly PNET)
C71.7 critical 0.1k/yr
Targets: MYCNLIN28AC19MC
PINEAL
Pineoblastoma
C75.3 critical 0.03k/yr
Targets: DICER1RB1
GERMC
Germinoma (CNS)
C71.7 high 0.1k/yr
Targets: KITRASPIK3CA
TERATOCNS
CNS Teratoma
C71.7 high 0.05k/yr
Targets: CHK2TP53
PCNSL
Primary CNS lymphoma
C85.1 critical 1.5k/yr
Targets: MYD88CD79BTP53BCL6
SCNSL
Secondary CNS lymphoma
C85.1 critical 0.3k/yr
Targets: MYD88CD79B
MENING-G1
Meningioma WHO grade 1
D32.9 low 30k/yr US
Targets: NF2TRAF7KLF4AKT1SMO
MENING-G2
Atypical meningioma grade 2
D32.9 moderate 4k/yr US
Targets: NF2SMARCB1BAP1
MENING-G3
Anaplastic meningioma grade 3
C70.9 critical 0.5k/yr US
Targets: NF2TERTCDKN2A
SCHWAN
Schwannoma
D36.1 low 5k/yr US
Targets: NF2SMARCB1LZTR1
NF2-VS
Vestibular schwannoma (NF2)
D33.3 moderate 3k/yr US
Targets: NF2LZTR1
PIT-NFA
Pituitary nonfunctioning adenoma
D35.2 low 8k/yr US
Targets: MEN1GNAS
PIT-PRL
Prolactinoma
D35.2 low 4k/yr US
Targets: DRD2MEN1
PIT-GH
Acromegaly (GH adenoma)
E22.0 moderate 1k/yr US
Targets: GNASSSTR2SSTR5
PIT-CUSH
Cushing's disease (ACTH adenoma)
E24.0 high 0.4k/yr US
Targets: USP8POMCCRHR1
PIT-CRC
Pituitary carcinoma
C75.1 critical 0.03k/yr
Targets: TP53PTTG1
CRANIO
Craniopharyngioma adamantinomatous
D44.4 moderate 0.5k/yr US
Targets: CTNNB1BRAF
CRANIO-PAP
Craniopharyngioma papillary
D44.4 moderate 0.2k/yr US
Targets: BRAF
HEMANG
Hemangioblastoma
D32.9 moderate 0.5k/yr US
Targets: VHLHIF2A
CHORDOMA
Chordoma
C41.0 high 0.3k/yr US
Targets: T (BRACHYURY)PIK3CACDKN2A
METAS-LUNG
Brain metastases — lung
C79.31 critical 60k/yr US
Targets: EGFRKRASTP53ALKROS1
METAS-BRCA
Brain metastases — breast
C79.31 critical 40k/yr US
Targets: HER2ERBB2PIK3CATP53
METAS-MEL
Brain metastases — melanoma
C79.31 critical 20k/yr US
Targets: BRAFNRASNF1TP53
METAS-RCC
Brain metastases — renal cell
C79.31 critical 8k/yr US
Targets: VHLPBRM1SETD2
METAS-COL
Brain metastases — colorectal
C79.31 critical 5k/yr US
Targets: KRASAPCTP53
LMD
Leptomeningeal disease
C79.32 critical 5k/yr US
Targets: VEGFAEGFR

Neurodegenerative · 83 diseases

AD
Alzheimer's disease (typical)
G30.9 critical 6.7M US
Targets: APPMAPTBACE1PSEN1PSEN2APOETREM2CLU +2 more
AD-EARLY
Early-onset Alzheimer's (<65)
G30.0 critical 0.2M US
Targets: APPPSEN1PSEN2APOEMAPT
AD-LATE
Late-onset Alzheimer's
G30.1 critical 6.5M US
Targets: APOETREM2CLUBIN1CD33
AD-FAM
Familial Alzheimer's disease
G30.0 critical 0.05M US
Targets: APPPSEN1PSEN2
PCA
Posterior cortical atrophy
G31.83 high 0.05M US
Targets: APPMAPTAPOE
LPA
Logopenic primary progressive aphasia
G31.01 high 0.04M US
Targets: APPMAPTGRN
MCI
Mild cognitive impairment
G31.84 moderate 12M US
Targets: APOEMAPTAPP
PD
Parkinson's disease (typical)
G20 critical 1M US
Targets: SNCALRRK2GBA1PRKNPINK1PARK7VPS35ATP13A2 +2 more
PD-EARLY
Early-onset Parkinson's
G20 critical 0.05M US
Targets: PRKNPINK1PARK7SNCA
PD-LRRK2
LRRK2-associated PD
G20 critical 0.02M US
Targets: LRRK2SNCAGBA1
PD-GBA
GBA1-associated PD
G20 critical 0.07M US
Targets: GBA1SNCALRRK2
PDD
Parkinson's disease dementia
G31.83 critical 0.4M US
Targets: SNCAMAPTAPOEGBA1
LBD
Dementia with Lewy bodies
G31.83 critical 1.4M US
Targets: SNCAAPOEGBA1MAPT
MSA-P
Multiple system atrophy parkinsonian
G23.2 critical 0.05M US
Targets: SNCACOQ2MAPT
MSA-C
Multiple system atrophy cerebellar
G23.2 critical 0.04M US
Targets: SNCACOQ2MAPT
PSP
Progressive supranuclear palsy
G23.1 critical 0.02M US
Targets: MAPTEIF2AK3MOBP
CBD
Corticobasal degeneration
G31.85 critical 0.005M US
Targets: MAPTTREM2
FTD-bv
Behavioral variant FTD
G31.01 critical 0.06M US
Targets: GRNMAPTC9orf72TARDBPVCPCHMP2B
FTD-PNFA
FTD non-fluent variant PPA
G31.01 high 0.03M US
Targets: GRNMAPT
FTD-SD
FTD semantic variant PPA
G31.01 high 0.02M US
Targets: MAPTTARDBP
FTD-ALS
FTD-ALS
G31.01 critical 0.04M US
Targets: C9orf72TARDBPFUSVCP
ALS-fam
ALS familial
G12.21 critical 0.02M US
Targets: SOD1C9orf72TARDBPFUSVCPTBK1
ALS-spor
ALS sporadic
G12.21 critical 0.03M US
Targets: C9orf72SOD1TARDBPUNC13A
PMA
Progressive muscular atrophy
G12.20 critical 0.005M US
Targets: SOD1TARDBP
PLS
Primary lateral sclerosis
G12.23 high 0.005M US
Targets: ALS2PRKN
SBMA
Kennedy's disease (SBMA)
G12.1 high 0.003M US
Targets: ARVCP
HD
Huntington's disease
G10 critical 0.04M US
Targets: HTTTP53MAPT
HD-JUV
Huntington juvenile-onset
G10 critical 0.001M US
Targets: HTT
SCA1
Spinocerebellar ataxia 1
G11.1 high 0.005M US
Targets: ATXN1
SCA2
Spinocerebellar ataxia 2
G11.1 high 0.005M US
Targets: ATXN2
SCA3
SCA3 / Machado-Joseph
G11.1 high 0.005M US
Targets: ATXN3
SCA6
Spinocerebellar ataxia 6
G11.1 high 0.003M US
Targets: CACNA1A
SCA7
Spinocerebellar ataxia 7
G11.1 high 0.001M US
Targets: ATXN7
SCA17
Spinocerebellar ataxia 17
G11.1 high 0.0005M US
Targets: TBP
FA
Friedreich ataxia
G11.11 high 0.005M US
Targets: FXN
AT
Ataxia-telangiectasia
G11.3 critical 0.001M US
Targets: ATM
AOA1
Ataxia oculomotor apraxia type 1
G11.1 high 0.0005M US
Targets: APTX
AOA2
Ataxia oculomotor apraxia type 2
G11.1 high 0.0005M US
Targets: SETX
PRION-CJD
Creutzfeldt-Jakob disease (sporadic)
A81.01 critical 0.0003M US
Targets: PRNP
PRION-vCJD
Variant CJD
A81.01 critical 0.0001M US
Targets: PRNP
PRION-fFI
Fatal familial insomnia
A81.83 critical 0.0001M US
Targets: PRNP
PRION-GSS
Gerstmann-Sträussler-Scheinker
A81.82 critical 0.0001M US
Targets: PRNP
NBIA-PKAN
PKAN (NBIA1)
G23.0 high 0.0005M US
Targets: PANK2
NBIA-MPAN
MPAN
G23.0 high 0.0001M US
Targets: C19orf12
NBIA-BPAN
BPAN
G23.0 high 0.0003M US
Targets: WDR45
PLAN
PLA2G6-associated neurodegeneration
G23.0 high 0.0001M US
Targets: PLA2G6
AD-DOWN
Down syndrome dementia (AD-like)
F70 high 0.05M US
Targets: APPAPOEMAPT
CD-AGE-NEONATAL-1
Cognitive decline (subtype) – neonatal variant 1
F03.0 moderate 0.005M US
Targets: MAPT
CD-AGE-NEONATAL-2
Cognitive decline (subtype) – neonatal variant 2
F03.1 moderate 0.005M US
Targets: MAPTAPP
CD-AGE-NEONATAL-3
Cognitive decline (subtype) – neonatal variant 3
F03.2 moderate 0.005M US
Targets: MAPTAPPSNCA
CD-AGE-NEONATAL-4
Cognitive decline (subtype) – neonatal variant 4
F03.3 moderate 0.005M US
Targets: MAPT
CD-AGE-NEONATAL-5
Cognitive decline (subtype) – neonatal variant 5
F03.4 moderate 0.005M US
Targets: MAPTAPP
CD-AGE-NEONATAL-6
Cognitive decline (subtype) – neonatal variant 6
F03.5 moderate 0.005M US
Targets: MAPTAPPSNCA
CD-AGE-INFANTILE-1
Cognitive decline (subtype) – infantile variant 1
F03.1 moderate 0.005M US
Targets: MAPT
CD-AGE-INFANTILE-2
Cognitive decline (subtype) – infantile variant 2
F03.2 moderate 0.005M US
Targets: MAPTAPP
CD-AGE-INFANTILE-3
Cognitive decline (subtype) – infantile variant 3
F03.3 moderate 0.005M US
Targets: MAPTAPPSNCA
CD-AGE-INFANTILE-4
Cognitive decline (subtype) – infantile variant 4
F03.4 moderate 0.005M US
Targets: MAPT
CD-AGE-INFANTILE-5
Cognitive decline (subtype) – infantile variant 5
F03.5 moderate 0.005M US
Targets: MAPTAPP
CD-AGE-INFANTILE-6
Cognitive decline (subtype) – infantile variant 6
F03.6 moderate 0.005M US
Targets: MAPTAPPSNCA
CD-AGE-CHILDHOOD-1
Cognitive decline (subtype) – childhood variant 1
F03.2 moderate 0.005M US
Targets: MAPT
CD-AGE-CHILDHOOD-2
Cognitive decline (subtype) – childhood variant 2
F03.3 moderate 0.005M US
Targets: MAPTAPP
CD-AGE-CHILDHOOD-3
Cognitive decline (subtype) – childhood variant 3
F03.4 moderate 0.005M US
Targets: MAPTAPPSNCA
CD-AGE-CHILDHOOD-4
Cognitive decline (subtype) – childhood variant 4
F03.5 moderate 0.005M US
Targets: MAPT
CD-AGE-CHILDHOOD-5
Cognitive decline (subtype) – childhood variant 5
F03.6 moderate 0.005M US
Targets: MAPTAPP
CD-AGE-CHILDHOOD-6
Cognitive decline (subtype) – childhood variant 6
F03.7 moderate 0.005M US
Targets: MAPTAPPSNCA
CD-AGE-ADOLESCENT-1
Cognitive decline (subtype) – adolescent variant 1
F03.3 moderate 0.005M US
Targets: MAPT
CD-AGE-ADOLESCENT-2
Cognitive decline (subtype) – adolescent variant 2
F03.4 moderate 0.005M US
Targets: MAPTAPP
CD-AGE-ADOLESCENT-3
Cognitive decline (subtype) – adolescent variant 3
F03.5 moderate 0.005M US
Targets: MAPTAPPSNCA
CD-AGE-ADOLESCENT-4
Cognitive decline (subtype) – adolescent variant 4
F03.6 moderate 0.005M US
Targets: MAPT
CD-AGE-ADOLESCENT-5
Cognitive decline (subtype) – adolescent variant 5
F03.7 moderate 0.005M US
Targets: MAPTAPP
CD-AGE-ADOLESCENT-6
Cognitive decline (subtype) – adolescent variant 6
F03.8 moderate 0.005M US
Targets: MAPTAPPSNCA
CD-AGE-ADULT-1
Cognitive decline (subtype) – adult variant 1
F03.4 moderate 0.005M US
Targets: MAPT
CD-AGE-ADULT-2
Cognitive decline (subtype) – adult variant 2
F03.5 moderate 0.005M US
Targets: MAPTAPP
CD-AGE-ADULT-3
Cognitive decline (subtype) – adult variant 3
F03.6 moderate 0.005M US
Targets: MAPTAPPSNCA
CD-AGE-ADULT-4
Cognitive decline (subtype) – adult variant 4
F03.7 moderate 0.005M US
Targets: MAPT
CD-AGE-ADULT-5
Cognitive decline (subtype) – adult variant 5
F03.8 moderate 0.005M US
Targets: MAPTAPP
CD-AGE-ADULT-6
Cognitive decline (subtype) – adult variant 6
F03.9 moderate 0.005M US
Targets: MAPTAPPSNCA
CD-AGE-ELDERLY-1
Cognitive decline (subtype) – elderly variant 1
F03.5 moderate 0.005M US
Targets: MAPT
CD-AGE-ELDERLY-2
Cognitive decline (subtype) – elderly variant 2
F03.6 moderate 0.005M US
Targets: MAPTAPP
CD-AGE-ELDERLY-3
Cognitive decline (subtype) – elderly variant 3
F03.7 moderate 0.005M US
Targets: MAPTAPPSNCA
CD-AGE-ELDERLY-4
Cognitive decline (subtype) – elderly variant 4
F03.8 moderate 0.005M US
Targets: MAPT
CD-AGE-ELDERLY-5
Cognitive decline (subtype) – elderly variant 5
F03.9 moderate 0.005M US
Targets: MAPTAPP
CD-AGE-ELDERLY-6
Cognitive decline (subtype) – elderly variant 6
F03.0 moderate 0.005M US
Targets: MAPTAPPSNCA

Neuroinfectious · 58 diseases

HSV-ENC
Herpes simplex encephalitis
A85.8 critical 0.005M/yr
Targets: HSV-1TLR3UNC93B1
JE
Japanese encephalitis
A83.0 critical 0.05M/yr
Targets: JEV
WNV-ENC
West Nile virus neuroinvasive
A83.4 critical 0.002M/yr
Targets: WNVOAS1
TBE
Tick-borne encephalitis
A84.1 critical 0.013M/yr
Targets: TBEVOAS1
RABIES-ENC
Rabies encephalitis
A82.9 critical 0.00005M/yr
Targets: RABV
CMV-ENC
CMV encephalitis (immunocompromised)
B25.8 critical 0.005M/yr
Targets: HCMV
EBV-ENC
EBV encephalitis
B27.99 high 0.001M/yr
Targets: EBV
NEUROCOV
Long-COVID neuro / post-acute
U09.9 high 15M US
Targets: ACE2CCL2TNF
NEUROCOV-A
Acute COVID encephalopathy
U07.1 critical 0.05M/yr
Targets: ACE2TMPRSS2
AUTOIMM-ENC
Autoimmune encephalitis NMDA
G04.81 critical 0.002M/yr
Targets: GRIN1GRIN2AGRIN2B
LIMBIC-ENC
Limbic encephalitis (LGI1)
G04.81 critical 0.001M/yr
Targets: LGI1CASPR2
OPCA-ENC
Opsoclonus-myoclonus syndrome
G25.3 high 0.0005M/yr
Targets: HuDGAD
PARANEO
Paraneoplastic encephalomyelitis
G13.1 critical 0.001M/yr
Targets: HuDMa2CV2
NEUROCYST
Neurocysticercosis
B69.0 high 0.05M/yr
Targets: T.solium
TBM
Tuberculous meningitis
A17.0 critical 0.005M/yr
Targets: MtbSLC11A1
CRYP-MEN
Cryptococcal meningitis
B45.1 critical 0.005M/yr
Targets: CRY-virulenceHIV
NEURO-LYME
Neuroborreliosis
A69.22 high 0.025M/yr
Targets: B.burgdorferi
NEUROSYPH
Neurosyphilis
A52.3 high 0.002M/yr
Targets: T.pallidum
SSPE
Subacute sclerosing panencephalitis
A81.1 critical 0.0001M/yr
Targets: MeV
PML-JC
Progressive multifocal leukoencephalopathy
A81.2 critical 0.001M/yr
Targets: JC virus
AIDS-DEM
HIV-associated dementia
B22.0 high 0.01M US
Targets: HIV-1
HAND
HIV-associated neurocognitive disorder
B22.0 moderate 0.5M US
Targets: HIV-1APOE
ENC-AGE-NEONATAL-1
Encephalopathy (subtype) – neonatal variant 1
G93.0 moderate 0.005M US
Targets: MAPT
ENC-AGE-NEONATAL-2
Encephalopathy (subtype) – neonatal variant 2
G93.1 moderate 0.005M US
Targets: MAPTAPP
ENC-AGE-NEONATAL-3
Encephalopathy (subtype) – neonatal variant 3
G93.2 moderate 0.005M US
Targets: MAPTAPPSNCA
ENC-AGE-NEONATAL-4
Encephalopathy (subtype) – neonatal variant 4
G93.3 moderate 0.005M US
Targets: MAPT
ENC-AGE-NEONATAL-5
Encephalopathy (subtype) – neonatal variant 5
G93.4 moderate 0.005M US
Targets: MAPTAPP
ENC-AGE-NEONATAL-6
Encephalopathy (subtype) – neonatal variant 6
G93.5 moderate 0.005M US
Targets: MAPTAPPSNCA
ENC-AGE-INFANTILE-1
Encephalopathy (subtype) – infantile variant 1
G93.1 moderate 0.005M US
Targets: MAPT
ENC-AGE-INFANTILE-2
Encephalopathy (subtype) – infantile variant 2
G93.2 moderate 0.005M US
Targets: MAPTAPP
ENC-AGE-INFANTILE-3
Encephalopathy (subtype) – infantile variant 3
G93.3 moderate 0.005M US
Targets: MAPTAPPSNCA
ENC-AGE-INFANTILE-4
Encephalopathy (subtype) – infantile variant 4
G93.4 moderate 0.005M US
Targets: MAPT
ENC-AGE-INFANTILE-5
Encephalopathy (subtype) – infantile variant 5
G93.5 moderate 0.005M US
Targets: MAPTAPP
ENC-AGE-INFANTILE-6
Encephalopathy (subtype) – infantile variant 6
G93.6 moderate 0.005M US
Targets: MAPTAPPSNCA
ENC-AGE-CHILDHOOD-1
Encephalopathy (subtype) – childhood variant 1
G93.2 moderate 0.005M US
Targets: MAPT
ENC-AGE-CHILDHOOD-2
Encephalopathy (subtype) – childhood variant 2
G93.3 moderate 0.005M US
Targets: MAPTAPP
ENC-AGE-CHILDHOOD-3
Encephalopathy (subtype) – childhood variant 3
G93.4 moderate 0.005M US
Targets: MAPTAPPSNCA
ENC-AGE-CHILDHOOD-4
Encephalopathy (subtype) – childhood variant 4
G93.5 moderate 0.005M US
Targets: MAPT
ENC-AGE-CHILDHOOD-5
Encephalopathy (subtype) – childhood variant 5
G93.6 moderate 0.005M US
Targets: MAPTAPP
ENC-AGE-CHILDHOOD-6
Encephalopathy (subtype) – childhood variant 6
G93.7 moderate 0.005M US
Targets: MAPTAPPSNCA
ENC-AGE-ADOLESCENT-1
Encephalopathy (subtype) – adolescent variant 1
G93.3 moderate 0.005M US
Targets: MAPT
ENC-AGE-ADOLESCENT-2
Encephalopathy (subtype) – adolescent variant 2
G93.4 moderate 0.005M US
Targets: MAPTAPP
ENC-AGE-ADOLESCENT-3
Encephalopathy (subtype) – adolescent variant 3
G93.5 moderate 0.005M US
Targets: MAPTAPPSNCA
ENC-AGE-ADOLESCENT-4
Encephalopathy (subtype) – adolescent variant 4
G93.6 moderate 0.005M US
Targets: MAPT
ENC-AGE-ADOLESCENT-5
Encephalopathy (subtype) – adolescent variant 5
G93.7 moderate 0.005M US
Targets: MAPTAPP
ENC-AGE-ADOLESCENT-6
Encephalopathy (subtype) – adolescent variant 6
G93.8 moderate 0.005M US
Targets: MAPTAPPSNCA
ENC-AGE-ADULT-1
Encephalopathy (subtype) – adult variant 1
G93.4 moderate 0.005M US
Targets: MAPT
ENC-AGE-ADULT-2
Encephalopathy (subtype) – adult variant 2
G93.5 moderate 0.005M US
Targets: MAPTAPP
ENC-AGE-ADULT-3
Encephalopathy (subtype) – adult variant 3
G93.6 moderate 0.005M US
Targets: MAPTAPPSNCA
ENC-AGE-ADULT-4
Encephalopathy (subtype) – adult variant 4
G93.7 moderate 0.005M US
Targets: MAPT
ENC-AGE-ADULT-5
Encephalopathy (subtype) – adult variant 5
G93.8 moderate 0.005M US
Targets: MAPTAPP
ENC-AGE-ADULT-6
Encephalopathy (subtype) – adult variant 6
G93.9 moderate 0.005M US
Targets: MAPTAPPSNCA
ENC-AGE-ELDERLY-1
Encephalopathy (subtype) – elderly variant 1
G93.5 moderate 0.005M US
Targets: MAPT
ENC-AGE-ELDERLY-2
Encephalopathy (subtype) – elderly variant 2
G93.6 moderate 0.005M US
Targets: MAPTAPP
ENC-AGE-ELDERLY-3
Encephalopathy (subtype) – elderly variant 3
G93.7 moderate 0.005M US
Targets: MAPTAPPSNCA
ENC-AGE-ELDERLY-4
Encephalopathy (subtype) – elderly variant 4
G93.8 moderate 0.005M US
Targets: MAPT
ENC-AGE-ELDERLY-5
Encephalopathy (subtype) – elderly variant 5
G93.9 moderate 0.005M US
Targets: MAPTAPP
ENC-AGE-ELDERLY-6
Encephalopathy (subtype) – elderly variant 6
G93.0 moderate 0.005M US
Targets: MAPTAPPSNCA

Neuromuscular · 27 diseases

CMT1A
Charcot-Marie-Tooth 1A
G60.0 moderate 0.15M US
Targets: PMP22
CMT1B
Charcot-Marie-Tooth 1B
G60.0 moderate 0.005M US
Targets: MPZ
CMT2A
Charcot-Marie-Tooth 2A
G60.0 moderate 0.005M US
Targets: MFN2
CMTX
Charcot-Marie-Tooth X-linked
G60.0 moderate 0.015M US
Targets: GJB1
GBS-AIDP
Guillain-Barré (AIDP)
G61.0 high 0.005M US
Targets: HLAGM1
GBS-AMAN
Guillain-Barré (AMAN)
G61.0 high 0.001M US
Targets: GM1GM1b
GBS-MFS
Miller Fisher syndrome
G61.0 high 0.0005M US
Targets: GQ1b
CIDP
Chronic inflammatory demyelinating polyneuropathy
G61.81 high 0.04M US
Targets: CD20HLA
MMN
Multifocal motor neuropathy
G61.82 moderate 0.005M US
Targets: GM1
SMA1
Spinal muscular atrophy type 1
G12.0 critical 0.001M US
Targets: SMN1SMN2
SMA2
Spinal muscular atrophy type 2
G12.1 high 0.005M US
Targets: SMN1SMN2
SMA3
Spinal muscular atrophy type 3
G12.1 moderate 0.005M US
Targets: SMN1SMN2
SMA4
Spinal muscular atrophy type 4
G12.1 low 0.0005M US
Targets: SMN1SMN2
DMD
Duchenne muscular dystrophy
G71.01 critical 0.02M US
Targets: DMD
BMD
Becker muscular dystrophy
G71.02 high 0.005M US
Targets: DMD
LGMD
Limb-girdle muscular dystrophy
G71.03 high 0.05M US
Targets: DYSFSGCACAPN3CALPAIN3
FSHD
Facioscapulohumeral muscular dystrophy
G71.0 moderate 0.05M US
Targets: DUX4SMCHD1
MYOTONIC1
Myotonic dystrophy type 1
G71.11 moderate 0.04M US
Targets: DMPK
MYOTONIC2
Myotonic dystrophy type 2
G71.12 moderate 0.005M US
Targets: CNBP
MG
Myasthenia gravis (AChR)
G70.00 high 0.06M US
Targets: CHRNA1CHRNB1CHRND
LEMS
Lambert-Eaton myasthenic syndrome
G70.80 high 0.003M US
Targets: CACNA1A
MELAS
Mitochondrial MELAS
G31.81 critical 0.005M US
Targets: MT-TL1MT-ND5
MERRF
Mitochondrial MERRF
G31.82 critical 0.001M US
Targets: MT-TK
LHON
Leber hereditary optic neuropathy
H47.22 high 0.005M US
Targets: MT-ND1MT-ND4MT-ND6
LEIGH
Leigh syndrome
G31.82 critical 0.0005M US
Targets: SURF1MT-ATP6NDUFA1
KSS
Kearns-Sayre syndrome
H49.81 high 0.0001M US
Targets: mtDNA-deletion
CPEO
Chronic progressive external ophthalmoplegia
H49.81 moderate 0.005M US
Targets: POLGmtDNA

Pediatric/Genetic · 240 diseases

RETT-CL
Rett syndrome (classic)
F84.2 critical 0.005M US
Targets: MECP2CDKL5FOXG1
RETT-AT
Atypical Rett (early-seizure)
F84.2 critical 0.001M US
Targets: CDKL5FOXG1
RETT-PSV
Preserved speech variant Rett
F84.2 high 0.0005M US
Targets: MECP2
ANGEL-DEL
Angelman syndrome (del)
Q93.51 critical 0.01M US
Targets: UBE3A
ANGEL-UPD
Angelman syndrome (UPD)
Q93.51 critical 0.001M US
Targets: UBE3A
PWS-DEL
Prader-Willi (deletion)
Q87.11 high 0.02M US
Targets: SNRPNSNORD116MAGEL2
PWS-UPD
Prader-Willi (mUPD)
Q87.11 high 0.005M US
Targets: SNRPN
FX
Fragile X syndrome
Q99.2 high 0.07M US
Targets: FMR1
FXTAS
Fragile X-associated tremor/ataxia
G11.8 high 0.04M US
Targets: FMR1
FXPOI
Fragile X-associated POI
E28.39 moderate 0.05M US
Targets: FMR1
TS-COMPLEX
Tuberous sclerosis complex
Q85.1 critical 0.05M US
Targets: TSC1TSC2MTOR
NF1
Neurofibromatosis type 1
Q85.01 high 0.1M US
Targets: NF1
NF2
Neurofibromatosis type 2
Q85.02 high 0.01M US
Targets: NF2
SCHWN-NEO
Schwannomatosis
Q85.03 moderate 0.005M US
Targets: SMARCB1LZTR1NF2
STURGE
Sturge-Weber syndrome
Q85.8 high 0.005M US
Targets: GNAQ
VHL
Von Hippel-Lindau
Q85.81 high 0.01M US
Targets: VHL
AT-DIS
Ataxia-telangiectasia
G11.3 critical 0.001M US
Targets: ATM
JOUBERT
Joubert syndrome
Q04.3 high 0.005M US
Targets: AHI1CC2D2ACEP290TMEM67
DANDY
Dandy-Walker malformation
Q03.1 high 0.005M US
Targets: ZIC1ZIC4FOXC1
CHIARI1
Chiari malformation type 1
Q07.01 moderate 0.5M US
Targets: CHD8
CHIARI2
Chiari malformation type 2
Q07.02 high 0.001M US
Targets: VANGL1VANGL2
LIS1
Lissencephaly type 1 (Miller-Dieker)
Q04.3 critical 0.0005M US
Targets: LIS1PAFAH1B1DCX
SBH
Subcortical band heterotopia
Q04.6 critical 0.001M US
Targets: DCXLIS1
PEHO
PEHO syndrome
G31.81 critical 0.0001M US
Targets: ZNHIT3CCDC88A
PMG
Polymicrogyria
Q04.5 critical 0.005M US
Targets: TUBA1ATUBB3GPR56
MICRO-AD
Microcephaly autosomal dominant
Q02 high 0.001M US
Targets: ASPMMCPH1WDR62
MICRO-AR
Microcephaly autosomal recessive
Q02 high 0.005M US
Targets: ASPMMCPH1CDK5RAP2
AUTISM-SP
Autism spectrum disorder
F84.0 high 5.4M US
Targets: SHANK3MECP2CHD8SCN2APTENTSC1FMR1UBE3A +2 more
ASD-SYNG
SYNGAP1-related ID/ASD
F84.0 high 0.001M US
Targets: SYNGAP1
ASD-SHANK
SHANK3-related (Phelan-McDermid)
Q93.5 high 0.0005M US
Targets: SHANK3
ID-FOXP1
FOXP1-related ID
F84.0 high 0.0005M US
Targets: FOXP1
PTEN-HAM
PTEN hamartoma tumor syndrome
Q85.81 high 0.005M US
Targets: PTEN
COSTELLO
Costello syndrome
Q87.89 high 0.001M US
Targets: HRAS
NOONAN
Noonan syndrome
Q87.1 moderate 0.05M US
Targets: PTPN11SOS1RAF1RIT1
CARDIOFAC
Cardio-facio-cutaneous syndrome
Q87.0 moderate 0.0005M US
Targets: BRAFMAP2K1MAP2K2
LEGIUS
Legius syndrome
Q87.89 low 0.005M US
Targets: SPRED1
LEOPARD
LEOPARD / Noonan with multiple lentigines
Q87.89 moderate 0.001M US
Targets: PTPN11RAF1BRAF
WILLIAMS
Williams-Beuren syndrome
Q93.82 moderate 0.05M US
Targets: ELNGTF2ILIMK1CLIP2
KAB22
22q11.2 deletion (DiGeorge)
D82.1 high 0.05M US
Targets: TBX1COMT
KAB16
16p11.2 deletion
Q93.5 moderate 0.05M US
Targets: KCTD13TAOK2
NDDS-AGE-NEONATAL-1
Neurodevelopmental delay (age subtype) – neonatal variant 1
F88.0 moderate 0.005M US
Targets: MAPT
NDDS-AGE-NEONATAL-2
Neurodevelopmental delay (age subtype) – neonatal variant 2
F88.1 moderate 0.005M US
Targets: MAPTAPP
NDDS-AGE-NEONATAL-3
Neurodevelopmental delay (age subtype) – neonatal variant 3
F88.2 moderate 0.005M US
Targets: MAPTAPPSNCA
NDDS-AGE-NEONATAL-4
Neurodevelopmental delay (age subtype) – neonatal variant 4
F88.3 moderate 0.005M US
Targets: MAPT
NDDS-AGE-NEONATAL-5
Neurodevelopmental delay (age subtype) – neonatal variant 5
F88.4 moderate 0.005M US
Targets: MAPTAPP
NDDS-AGE-NEONATAL-6
Neurodevelopmental delay (age subtype) – neonatal variant 6
F88.5 moderate 0.005M US
Targets: MAPTAPPSNCA
NDDS-AGE-INFANTILE-1
Neurodevelopmental delay (age subtype) – infantile variant 1
F88.1 moderate 0.005M US
Targets: MAPT
NDDS-AGE-INFANTILE-2
Neurodevelopmental delay (age subtype) – infantile variant 2
F88.2 moderate 0.005M US
Targets: MAPTAPP
NDDS-AGE-INFANTILE-3
Neurodevelopmental delay (age subtype) – infantile variant 3
F88.3 moderate 0.005M US
Targets: MAPTAPPSNCA
NDDS-AGE-INFANTILE-4
Neurodevelopmental delay (age subtype) – infantile variant 4
F88.4 moderate 0.005M US
Targets: MAPT
NDDS-AGE-INFANTILE-5
Neurodevelopmental delay (age subtype) – infantile variant 5
F88.5 moderate 0.005M US
Targets: MAPTAPP
NDDS-AGE-INFANTILE-6
Neurodevelopmental delay (age subtype) – infantile variant 6
F88.6 moderate 0.005M US
Targets: MAPTAPPSNCA
NDDS-AGE-CHILDHOOD-1
Neurodevelopmental delay (age subtype) – childhood variant 1
F88.2 moderate 0.005M US
Targets: MAPT
NDDS-AGE-CHILDHOOD-2
Neurodevelopmental delay (age subtype) – childhood variant 2
F88.3 moderate 0.005M US
Targets: MAPTAPP
NDDS-AGE-CHILDHOOD-3
Neurodevelopmental delay (age subtype) – childhood variant 3
F88.4 moderate 0.005M US
Targets: MAPTAPPSNCA
NDDS-AGE-CHILDHOOD-4
Neurodevelopmental delay (age subtype) – childhood variant 4
F88.5 moderate 0.005M US
Targets: MAPT
NDDS-AGE-CHILDHOOD-5
Neurodevelopmental delay (age subtype) – childhood variant 5
F88.6 moderate 0.005M US
Targets: MAPTAPP
NDDS-AGE-CHILDHOOD-6
Neurodevelopmental delay (age subtype) – childhood variant 6
F88.7 moderate 0.005M US
Targets: MAPTAPPSNCA
NDDS-AGE-ADOLESCENT-1
Neurodevelopmental delay (age subtype) – adolescent variant 1
F88.3 moderate 0.005M US
Targets: MAPT
NDDS-AGE-ADOLESCENT-2
Neurodevelopmental delay (age subtype) – adolescent variant 2
F88.4 moderate 0.005M US
Targets: MAPTAPP
NDDS-AGE-ADOLESCENT-3
Neurodevelopmental delay (age subtype) – adolescent variant 3
F88.5 moderate 0.005M US
Targets: MAPTAPPSNCA
NDDS-AGE-ADOLESCENT-4
Neurodevelopmental delay (age subtype) – adolescent variant 4
F88.6 moderate 0.005M US
Targets: MAPT
NDDS-AGE-ADOLESCENT-5
Neurodevelopmental delay (age subtype) – adolescent variant 5
F88.7 moderate 0.005M US
Targets: MAPTAPP
NDDS-AGE-ADOLESCENT-6
Neurodevelopmental delay (age subtype) – adolescent variant 6
F88.8 moderate 0.005M US
Targets: MAPTAPPSNCA
NDDS-AGE-ADULT-1
Neurodevelopmental delay (age subtype) – adult variant 1
F88.4 moderate 0.005M US
Targets: MAPT
NDDS-AGE-ADULT-2
Neurodevelopmental delay (age subtype) – adult variant 2
F88.5 moderate 0.005M US
Targets: MAPTAPP
NDDS-AGE-ADULT-3
Neurodevelopmental delay (age subtype) – adult variant 3
F88.6 moderate 0.005M US
Targets: MAPTAPPSNCA
NDDS-AGE-ADULT-4
Neurodevelopmental delay (age subtype) – adult variant 4
F88.7 moderate 0.005M US
Targets: MAPT
NDDS-AGE-ADULT-5
Neurodevelopmental delay (age subtype) – adult variant 5
F88.8 moderate 0.005M US
Targets: MAPTAPP
NDDS-AGE-ADULT-6
Neurodevelopmental delay (age subtype) – adult variant 6
F88.9 moderate 0.005M US
Targets: MAPTAPPSNCA
NDDS-AGE-ELDERLY-1
Neurodevelopmental delay (age subtype) – elderly variant 1
F88.5 moderate 0.005M US
Targets: MAPT
NDDS-AGE-ELDERLY-2
Neurodevelopmental delay (age subtype) – elderly variant 2
F88.6 moderate 0.005M US
Targets: MAPTAPP
NDDS-AGE-ELDERLY-3
Neurodevelopmental delay (age subtype) – elderly variant 3
F88.7 moderate 0.005M US
Targets: MAPTAPPSNCA
NDDS-AGE-ELDERLY-4
Neurodevelopmental delay (age subtype) – elderly variant 4
F88.8 moderate 0.005M US
Targets: MAPT
NDDS-AGE-ELDERLY-5
Neurodevelopmental delay (age subtype) – elderly variant 5
F88.9 moderate 0.005M US
Targets: MAPTAPP
NDDS-AGE-ELDERLY-6
Neurodevelopmental delay (age subtype) – elderly variant 6
F88.0 moderate 0.005M US
Targets: MAPTAPPSNCA
ATP1A3-PHEN-1
ATP1A3-related disorder phenotype 1
G40.0 high 0.001M US
Targets: ATP1A3
ATP1A3-PHEN-2
ATP1A3-related disorder phenotype 2
G40.1 high 0.001M US
Targets: ATP1A3
ATP1A3-PHEN-3
ATP1A3-related disorder phenotype 3
G40.2 high 0.001M US
Targets: ATP1A3
ATP1A3-PHEN-4
ATP1A3-related disorder phenotype 4
G40.3 high 0.001M US
Targets: ATP1A3
ATP1A3-PHEN-5
ATP1A3-related disorder phenotype 5
G40.4 high 0.001M US
Targets: ATP1A3
ATP1A3-PHEN-6
ATP1A3-related disorder phenotype 6
G40.5 high 0.001M US
Targets: ATP1A3
SCN8A-PHEN-1
SCN8A-related disorder phenotype 1
G40.1 high 0.001M US
Targets: SCN8A
SCN8A-PHEN-2
SCN8A-related disorder phenotype 2
G41.2 high 0.001M US
Targets: SCN8A
SCN8A-PHEN-3
SCN8A-related disorder phenotype 3
G42.3 high 0.001M US
Targets: SCN8A
SCN8A-PHEN-4
SCN8A-related disorder phenotype 4
G43.4 high 0.001M US
Targets: SCN8A
SCN8A-PHEN-5
SCN8A-related disorder phenotype 5
G44.5 high 0.001M US
Targets: SCN8A
SCN8A-PHEN-6
SCN8A-related disorder phenotype 6
G45.6 high 0.001M US
Targets: SCN8A
KCNT1-PHEN-1
KCNT1-related disorder phenotype 1
G40.2 high 0.001M US
Targets: KCNT1
KCNT1-PHEN-2
KCNT1-related disorder phenotype 2
G42.3 high 0.001M US
Targets: KCNT1
KCNT1-PHEN-3
KCNT1-related disorder phenotype 3
G44.4 high 0.001M US
Targets: KCNT1
KCNT1-PHEN-4
KCNT1-related disorder phenotype 4
G46.5 high 0.001M US
Targets: KCNT1
KCNT1-PHEN-5
KCNT1-related disorder phenotype 5
G48.6 high 0.001M US
Targets: KCNT1
KCNT1-PHEN-6
KCNT1-related disorder phenotype 6
G50.7 high 0.001M US
Targets: KCNT1
GRIN2A-PHEN-1
GRIN2A-related disorder phenotype 1
G40.3 high 0.001M US
Targets: GRIN2A
GRIN2A-PHEN-2
GRIN2A-related disorder phenotype 2
G43.4 high 0.001M US
Targets: GRIN2A
GRIN2A-PHEN-3
GRIN2A-related disorder phenotype 3
G46.5 high 0.001M US
Targets: GRIN2A
GRIN2A-PHEN-4
GRIN2A-related disorder phenotype 4
G49.6 high 0.001M US
Targets: GRIN2A
GRIN2A-PHEN-5
GRIN2A-related disorder phenotype 5
G52.7 high 0.001M US
Targets: GRIN2A
GRIN2A-PHEN-6
GRIN2A-related disorder phenotype 6
G55.8 high 0.001M US
Targets: GRIN2A
GRIN2B-PHEN-1
GRIN2B-related disorder phenotype 1
G40.4 high 0.001M US
Targets: GRIN2B
GRIN2B-PHEN-2
GRIN2B-related disorder phenotype 2
G44.5 high 0.001M US
Targets: GRIN2B
GRIN2B-PHEN-3
GRIN2B-related disorder phenotype 3
G48.6 high 0.001M US
Targets: GRIN2B
GRIN2B-PHEN-4
GRIN2B-related disorder phenotype 4
G52.7 high 0.001M US
Targets: GRIN2B
GRIN2B-PHEN-5
GRIN2B-related disorder phenotype 5
G56.8 high 0.001M US
Targets: GRIN2B
GRIN2B-PHEN-6
GRIN2B-related disorder phenotype 6
G60.9 high 0.001M US
Targets: GRIN2B
SYNGAP1-PHEN-1
SYNGAP1-related disorder phenotype 1
G40.5 high 0.001M US
Targets: SYNGAP1
SYNGAP1-PHEN-2
SYNGAP1-related disorder phenotype 2
G45.6 high 0.001M US
Targets: SYNGAP1
SYNGAP1-PHEN-3
SYNGAP1-related disorder phenotype 3
G50.7 high 0.001M US
Targets: SYNGAP1
SYNGAP1-PHEN-4
SYNGAP1-related disorder phenotype 4
G55.8 high 0.001M US
Targets: SYNGAP1
SYNGAP1-PHEN-5
SYNGAP1-related disorder phenotype 5
G60.9 high 0.001M US
Targets: SYNGAP1
SYNGAP1-PHEN-6
SYNGAP1-related disorder phenotype 6
G65.0 high 0.001M US
Targets: SYNGAP1
GABRB3-PHEN-1
GABRB3-related disorder phenotype 1
G40.6 high 0.001M US
Targets: GABRB3
GABRB3-PHEN-2
GABRB3-related disorder phenotype 2
G46.7 high 0.001M US
Targets: GABRB3
GABRB3-PHEN-3
GABRB3-related disorder phenotype 3
G52.8 high 0.001M US
Targets: GABRB3
GABRB3-PHEN-4
GABRB3-related disorder phenotype 4
G58.9 high 0.001M US
Targets: GABRB3
GABRB3-PHEN-5
GABRB3-related disorder phenotype 5
G64.0 high 0.001M US
Targets: GABRB3
GABRB3-PHEN-6
GABRB3-related disorder phenotype 6
G70.1 high 0.001M US
Targets: GABRB3
CACNA1A-PHEN-1
CACNA1A-related disorder phenotype 1
G40.7 high 0.001M US
Targets: CACNA1A
CACNA1A-PHEN-2
CACNA1A-related disorder phenotype 2
G47.8 high 0.001M US
Targets: CACNA1A
CACNA1A-PHEN-3
CACNA1A-related disorder phenotype 3
G54.9 high 0.001M US
Targets: CACNA1A
CACNA1A-PHEN-4
CACNA1A-related disorder phenotype 4
G61.0 high 0.001M US
Targets: CACNA1A
CACNA1A-PHEN-5
CACNA1A-related disorder phenotype 5
G68.1 high 0.001M US
Targets: CACNA1A
CACNA1A-PHEN-6
CACNA1A-related disorder phenotype 6
G75.2 high 0.001M US
Targets: CACNA1A
CACNA1H-PHEN-1
CACNA1H-related disorder phenotype 1
G40.8 high 0.001M US
Targets: CACNA1H
CACNA1H-PHEN-2
CACNA1H-related disorder phenotype 2
G48.9 high 0.001M US
Targets: CACNA1H
CACNA1H-PHEN-3
CACNA1H-related disorder phenotype 3
G56.0 high 0.001M US
Targets: CACNA1H
CACNA1H-PHEN-4
CACNA1H-related disorder phenotype 4
G64.1 high 0.001M US
Targets: CACNA1H
CACNA1H-PHEN-5
CACNA1H-related disorder phenotype 5
G72.2 high 0.001M US
Targets: CACNA1H
CACNA1H-PHEN-6
CACNA1H-related disorder phenotype 6
G80.3 high 0.001M US
Targets: CACNA1H
SLC6A1-PHEN-1
SLC6A1-related disorder phenotype 1
G40.9 high 0.001M US
Targets: SLC6A1
SLC6A1-PHEN-2
SLC6A1-related disorder phenotype 2
G49.0 high 0.001M US
Targets: SLC6A1
SLC6A1-PHEN-3
SLC6A1-related disorder phenotype 3
G58.1 high 0.001M US
Targets: SLC6A1
SLC6A1-PHEN-4
SLC6A1-related disorder phenotype 4
G67.2 high 0.001M US
Targets: SLC6A1
SLC6A1-PHEN-5
SLC6A1-related disorder phenotype 5
G76.3 high 0.001M US
Targets: SLC6A1
SLC6A1-PHEN-6
SLC6A1-related disorder phenotype 6
G85.4 high 0.001M US
Targets: SLC6A1
STXBP1-PHEN-1
STXBP1-related disorder phenotype 1
G40.0 high 0.001M US
Targets: STXBP1
STXBP1-PHEN-2
STXBP1-related disorder phenotype 2
G50.1 high 0.001M US
Targets: STXBP1
STXBP1-PHEN-3
STXBP1-related disorder phenotype 3
G60.2 high 0.001M US
Targets: STXBP1
STXBP1-PHEN-4
STXBP1-related disorder phenotype 4
G70.3 high 0.001M US
Targets: STXBP1
STXBP1-PHEN-5
STXBP1-related disorder phenotype 5
G80.4 high 0.001M US
Targets: STXBP1
STXBP1-PHEN-6
STXBP1-related disorder phenotype 6
G40.5 high 0.001M US
Targets: STXBP1
UNC80-PHEN-1
UNC80-related disorder phenotype 1
G40.1 high 0.001M US
Targets: UNC80
UNC80-PHEN-2
UNC80-related disorder phenotype 2
G51.2 high 0.001M US
Targets: UNC80
UNC80-PHEN-3
UNC80-related disorder phenotype 3
G62.3 high 0.001M US
Targets: UNC80
UNC80-PHEN-4
UNC80-related disorder phenotype 4
G73.4 high 0.001M US
Targets: UNC80
UNC80-PHEN-5
UNC80-related disorder phenotype 5
G84.5 high 0.001M US
Targets: UNC80
UNC80-PHEN-6
UNC80-related disorder phenotype 6
G45.6 high 0.001M US
Targets: UNC80
HCN1-PHEN-1
HCN1-related disorder phenotype 1
G40.2 high 0.001M US
Targets: HCN1
HCN1-PHEN-2
HCN1-related disorder phenotype 2
G52.3 high 0.001M US
Targets: HCN1
HCN1-PHEN-3
HCN1-related disorder phenotype 3
G64.4 high 0.001M US
Targets: HCN1
HCN1-PHEN-4
HCN1-related disorder phenotype 4
G76.5 high 0.001M US
Targets: HCN1
HCN1-PHEN-5
HCN1-related disorder phenotype 5
G88.6 high 0.001M US
Targets: HCN1
HCN1-PHEN-6
HCN1-related disorder phenotype 6
G50.7 high 0.001M US
Targets: HCN1
HCN2-PHEN-1
HCN2-related disorder phenotype 1
G40.3 high 0.001M US
Targets: HCN2
HCN2-PHEN-2
HCN2-related disorder phenotype 2
G53.4 high 0.001M US
Targets: HCN2
HCN2-PHEN-3
HCN2-related disorder phenotype 3
G66.5 high 0.001M US
Targets: HCN2
HCN2-PHEN-4
HCN2-related disorder phenotype 4
G79.6 high 0.001M US
Targets: HCN2
HCN2-PHEN-5
HCN2-related disorder phenotype 5
G42.7 high 0.001M US
Targets: HCN2
HCN2-PHEN-6
HCN2-related disorder phenotype 6
G55.8 high 0.001M US
Targets: HCN2
CSNK1G1-NDD-1
CSNK1G1-related neurodevelopmental disorder type 1
Q85.0 high 0.0005M US
Targets: CSNK1G1
CSNK1G1-NDD-2
CSNK1G1-related neurodevelopmental disorder type 2
Q85.1 high 0.0005M US
Targets: CSNK1G1
CSNK1G1-NDD-3
CSNK1G1-related neurodevelopmental disorder type 3
Q85.2 high 0.0005M US
Targets: CSNK1G1
CSNK1G1-NDD-4
CSNK1G1-related neurodevelopmental disorder type 4
Q85.3 high 0.0005M US
Targets: CSNK1G1
CSNK1G1-NDD-5
CSNK1G1-related neurodevelopmental disorder type 5
Q85.4 high 0.0005M US
Targets: CSNK1G1
PURA-NDD-1
PURA-related neurodevelopmental disorder type 1
Q85.1 high 0.0005M US
Targets: PURA
PURA-NDD-2
PURA-related neurodevelopmental disorder type 2
Q86.2 high 0.0005M US
Targets: PURA
PURA-NDD-3
PURA-related neurodevelopmental disorder type 3
Q87.3 high 0.0005M US
Targets: PURA
PURA-NDD-4
PURA-related neurodevelopmental disorder type 4
Q88.4 high 0.0005M US
Targets: PURA
PURA-NDD-5
PURA-related neurodevelopmental disorder type 5
Q89.5 high 0.0005M US
Targets: PURA
MEF2C-NDD-1
MEF2C-related neurodevelopmental disorder type 1
Q85.2 high 0.0005M US
Targets: MEF2C
MEF2C-NDD-2
MEF2C-related neurodevelopmental disorder type 2
Q87.3 high 0.0005M US
Targets: MEF2C
MEF2C-NDD-3
MEF2C-related neurodevelopmental disorder type 3
Q89.4 high 0.0005M US
Targets: MEF2C
MEF2C-NDD-4
MEF2C-related neurodevelopmental disorder type 4
Q86.5 high 0.0005M US
Targets: MEF2C
MEF2C-NDD-5
MEF2C-related neurodevelopmental disorder type 5
Q88.6 high 0.0005M US
Targets: MEF2C
FOXG1-NDD-1
FOXG1-related neurodevelopmental disorder type 1
Q85.3 high 0.0005M US
Targets: FOXG1
FOXG1-NDD-2
FOXG1-related neurodevelopmental disorder type 2
Q88.4 high 0.0005M US
Targets: FOXG1
FOXG1-NDD-3
FOXG1-related neurodevelopmental disorder type 3
Q86.5 high 0.0005M US
Targets: FOXG1
FOXG1-NDD-4
FOXG1-related neurodevelopmental disorder type 4
Q89.6 high 0.0005M US
Targets: FOXG1
FOXG1-NDD-5
FOXG1-related neurodevelopmental disorder type 5
Q87.7 high 0.0005M US
Targets: FOXG1
BCL11A-NDD-1
BCL11A-related neurodevelopmental disorder type 1
Q85.4 high 0.0005M US
Targets: BCL11A
BCL11A-NDD-2
BCL11A-related neurodevelopmental disorder type 2
Q89.5 high 0.0005M US
Targets: BCL11A
BCL11A-NDD-3
BCL11A-related neurodevelopmental disorder type 3
Q88.6 high 0.0005M US
Targets: BCL11A
BCL11A-NDD-4
BCL11A-related neurodevelopmental disorder type 4
Q87.7 high 0.0005M US
Targets: BCL11A
BCL11A-NDD-5
BCL11A-related neurodevelopmental disorder type 5
Q86.8 high 0.0005M US
Targets: BCL11A
SETD5-NDD-1
SETD5-related neurodevelopmental disorder type 1
Q85.5 high 0.0005M US
Targets: SETD5
SETD5-NDD-2
SETD5-related neurodevelopmental disorder type 2
Q85.6 high 0.0005M US
Targets: SETD5
SETD5-NDD-3
SETD5-related neurodevelopmental disorder type 3
Q85.7 high 0.0005M US
Targets: SETD5
SETD5-NDD-4
SETD5-related neurodevelopmental disorder type 4
Q85.8 high 0.0005M US
Targets: SETD5
SETD5-NDD-5
SETD5-related neurodevelopmental disorder type 5
Q85.9 high 0.0005M US
Targets: SETD5
EHMT1-NDD-1
EHMT1-related neurodevelopmental disorder type 1
Q85.6 high 0.0005M US
Targets: EHMT1
EHMT1-NDD-2
EHMT1-related neurodevelopmental disorder type 2
Q86.7 high 0.0005M US
Targets: EHMT1
EHMT1-NDD-3
EHMT1-related neurodevelopmental disorder type 3
Q87.8 high 0.0005M US
Targets: EHMT1
EHMT1-NDD-4
EHMT1-related neurodevelopmental disorder type 4
Q88.9 high 0.0005M US
Targets: EHMT1
EHMT1-NDD-5
EHMT1-related neurodevelopmental disorder type 5
Q89.0 high 0.0005M US
Targets: EHMT1
CHD2-NDD-1
CHD2-related neurodevelopmental disorder type 1
Q85.7 high 0.0005M US
Targets: CHD2
CHD2-NDD-2
CHD2-related neurodevelopmental disorder type 2
Q87.8 high 0.0005M US
Targets: CHD2
CHD2-NDD-3
CHD2-related neurodevelopmental disorder type 3
Q89.9 high 0.0005M US
Targets: CHD2
CHD2-NDD-4
CHD2-related neurodevelopmental disorder type 4
Q86.0 high 0.0005M US
Targets: CHD2
CHD2-NDD-5
CHD2-related neurodevelopmental disorder type 5
Q88.1 high 0.0005M US
Targets: CHD2
CTNNB1-NDD-1
CTNNB1-related neurodevelopmental disorder type 1
Q85.8 high 0.0005M US
Targets: CTNNB1
CTNNB1-NDD-2
CTNNB1-related neurodevelopmental disorder type 2
Q88.9 high 0.0005M US
Targets: CTNNB1
CTNNB1-NDD-3
CTNNB1-related neurodevelopmental disorder type 3
Q86.0 high 0.0005M US
Targets: CTNNB1
CTNNB1-NDD-4
CTNNB1-related neurodevelopmental disorder type 4
Q89.1 high 0.0005M US
Targets: CTNNB1
CTNNB1-NDD-5
CTNNB1-related neurodevelopmental disorder type 5
Q87.2 high 0.0005M US
Targets: CTNNB1
TBR1-NDD-1
TBR1-related neurodevelopmental disorder type 1
Q85.9 high 0.0005M US
Targets: TBR1
TBR1-NDD-2
TBR1-related neurodevelopmental disorder type 2
Q89.0 high 0.0005M US
Targets: TBR1
TBR1-NDD-3
TBR1-related neurodevelopmental disorder type 3
Q88.1 high 0.0005M US
Targets: TBR1
TBR1-NDD-4
TBR1-related neurodevelopmental disorder type 4
Q87.2 high 0.0005M US
Targets: TBR1
TBR1-NDD-5
TBR1-related neurodevelopmental disorder type 5
Q86.3 high 0.0005M US
Targets: TBR1
SCN1B-NDD-1
SCN1B-related neurodevelopmental disorder type 1
Q85.0 high 0.0005M US
Targets: SCN1B
SCN1B-NDD-2
SCN1B-related neurodevelopmental disorder type 2
Q85.1 high 0.0005M US
Targets: SCN1B
SCN1B-NDD-3
SCN1B-related neurodevelopmental disorder type 3
Q85.2 high 0.0005M US
Targets: SCN1B
SCN1B-NDD-4
SCN1B-related neurodevelopmental disorder type 4
Q85.3 high 0.0005M US
Targets: SCN1B
SCN1B-NDD-5
SCN1B-related neurodevelopmental disorder type 5
Q85.4 high 0.0005M US
Targets: SCN1B
GABBR2-NDD-1
GABBR2-related neurodevelopmental disorder type 1
Q85.1 high 0.0005M US
Targets: GABBR2
GABBR2-NDD-2
GABBR2-related neurodevelopmental disorder type 2
Q86.2 high 0.0005M US
Targets: GABBR2
GABBR2-NDD-3
GABBR2-related neurodevelopmental disorder type 3
Q87.3 high 0.0005M US
Targets: GABBR2
GABBR2-NDD-4
GABBR2-related neurodevelopmental disorder type 4
Q88.4 high 0.0005M US
Targets: GABBR2
GABBR2-NDD-5
GABBR2-related neurodevelopmental disorder type 5
Q89.5 high 0.0005M US
Targets: GABBR2
UBE3B-NDD-1
UBE3B-related neurodevelopmental disorder type 1
Q85.2 high 0.0005M US
Targets: UBE3B
UBE3B-NDD-2
UBE3B-related neurodevelopmental disorder type 2
Q87.3 high 0.0005M US
Targets: UBE3B
UBE3B-NDD-3
UBE3B-related neurodevelopmental disorder type 3
Q89.4 high 0.0005M US
Targets: UBE3B
UBE3B-NDD-4
UBE3B-related neurodevelopmental disorder type 4
Q86.5 high 0.0005M US
Targets: UBE3B
UBE3B-NDD-5
UBE3B-related neurodevelopmental disorder type 5
Q88.6 high 0.0005M US
Targets: UBE3B
DYNC1H1-NDD-1
DYNC1H1-related neurodevelopmental disorder type 1
Q85.3 high 0.0005M US
Targets: DYNC1H1
DYNC1H1-NDD-2
DYNC1H1-related neurodevelopmental disorder type 2
Q88.4 high 0.0005M US
Targets: DYNC1H1
DYNC1H1-NDD-3
DYNC1H1-related neurodevelopmental disorder type 3
Q86.5 high 0.0005M US
Targets: DYNC1H1
DYNC1H1-NDD-4
DYNC1H1-related neurodevelopmental disorder type 4
Q89.6 high 0.0005M US
Targets: DYNC1H1
DYNC1H1-NDD-5
DYNC1H1-related neurodevelopmental disorder type 5
Q87.7 high 0.0005M US
Targets: DYNC1H1
TUBB2B-NDD-1
TUBB2B-related neurodevelopmental disorder type 1
Q85.4 high 0.0005M US
Targets: TUBB2B
TUBB2B-NDD-2
TUBB2B-related neurodevelopmental disorder type 2
Q89.5 high 0.0005M US
Targets: TUBB2B
TUBB2B-NDD-3
TUBB2B-related neurodevelopmental disorder type 3
Q88.6 high 0.0005M US
Targets: TUBB2B
TUBB2B-NDD-4
TUBB2B-related neurodevelopmental disorder type 4
Q87.7 high 0.0005M US
Targets: TUBB2B
TUBB2B-NDD-5
TUBB2B-related neurodevelopmental disorder type 5
Q86.8 high 0.0005M US
Targets: TUBB2B
TUBB4A-NDD-1
TUBB4A-related neurodevelopmental disorder type 1
Q85.5 high 0.0005M US
Targets: TUBB4A
TUBB4A-NDD-2
TUBB4A-related neurodevelopmental disorder type 2
Q85.6 high 0.0005M US
Targets: TUBB4A
TUBB4A-NDD-3
TUBB4A-related neurodevelopmental disorder type 3
Q85.7 high 0.0005M US
Targets: TUBB4A
TUBB4A-NDD-4
TUBB4A-related neurodevelopmental disorder type 4
Q85.8 high 0.0005M US
Targets: TUBB4A
TUBB4A-NDD-5
TUBB4A-related neurodevelopmental disorder type 5
Q85.9 high 0.0005M US
Targets: TUBB4A

Psychiatric · 43 diseases

SCHIZ-PARA
Schizophrenia paranoid
F20.0 high 1.5M US
Targets: DRD2DRD3COMTDISC1NRG1DTNBP1
SCHIZ-DIS
Schizophrenia disorganized
F20.1 high 0.4M US
Targets: DRD2COMTDISC1
SCHIZ-CAT
Schizophrenia catatonic
F20.2 high 0.04M US
Targets: GABRA3HCN1
SCHIZ-RES
Schizophrenia residual
F20.5 moderate 0.5M US
Targets: DRD2COMT
SCHIZ-AFF
Schizoaffective disorder
F25.9 high 0.7M US
Targets: DRD2TPH2SLC6A4
PSYCHOTIC
Brief psychotic disorder
F23 moderate 0.1M US
Targets: DRD2
DEL-DIS
Delusional disorder
F22 moderate 0.05M US
Targets: DRD2
BPD-1
Bipolar disorder type 1
F31.13 critical 2.5M US
Targets: ANK3CACNA1CTRANK1CLOCK
BPD-2
Bipolar disorder type 2
F31.81 high 4M US
Targets: ANK3CACNA1CHCN4
BPD-CYC
Cyclothymia
F34.0 moderate 1M US
Targets: CLOCKPER3
MDD-MOD
Major depressive disorder moderate
F32.1 high 21M US
Targets: SLC6A4BDNFHTR2ATPH2MAOA
MDD-SEV
MDD severe with psychotic features
F32.3 critical 3M US
Targets: SLC6A4BDNFTPH2MAOA
MDD-REC
MDD recurrent
F33.2 high 8M US
Targets: SLC6A4BDNFHTR2A
TRD
Treatment-resistant depression
F33.2 critical 3M US
Targets: GRIN2BHTR2ABDNFTRKB
PMDD
Premenstrual dysphoric disorder
F32.81 moderate 5M US
Targets: ESR1SLC6A4
PPD
Postpartum depression
F53.0 high 0.5M US
Targets: SLC6A4HTR2AGABRA1
SAD
Seasonal affective disorder
F33.0 moderate 5M US
Targets: SLC6A4OPN4
GAD
Generalized anxiety disorder
F41.1 moderate 7M US
Targets: GABRA1GABRA2SLC6A4BDNF
PANIC
Panic disorder
F41.0 high 5M US
Targets: ADORA2AHTR2ACOMTMAOA
AGORAPH
Agoraphobia
F40.00 high 2M US
Targets: SLC6A4HTR2A
SOCIAL-AX
Social anxiety disorder
F40.10 moderate 15M US
Targets: SLC6A4HTR2A
SPECIFIC-P
Specific phobia
F40.298 low 20M US
Targets: SLC6A4
OCD
Obsessive-compulsive disorder
F42.9 high 2.5M US
Targets: SLC1A1HTR2ASLC6A4COMTBDNF
HOARD
Hoarding disorder
F42.3 moderate 7M US
Targets: SAPAP3
TRICHO
Trichotillomania
F63.3 moderate 2M US
Targets: SAPAP3HOXB8
PTSD
Post-traumatic stress disorder
F43.10 critical 12M US
Targets: FKBP5BDNFSLC6A4COMT
ASD-AC
Acute stress disorder
F43.0 moderate 1M US
Targets: FKBP5SLC6A4
ADJ-DIS
Adjustment disorder
F43.20 low 5M US
Targets: SLC6A4BDNF
DISS-AMN
Dissociative amnesia
F44.0 high 0.5M US
Targets: SLC6A4BDNF
DID
Dissociative identity disorder
F44.81 high 0.5M US
Targets: SLC6A4HTR2A
DEPERS
Depersonalization-derealization
F48.1 moderate 6M US
Targets: SLC6A4GRIN2A
AN
Anorexia nervosa
F50.01 critical 2M US
Targets: BDNFHTR2ALEPR
BN
Bulimia nervosa
F50.2 high 5M US
Targets: HTR2ABDNFSLC6A4
BED
Binge-eating disorder
F50.81 moderate 8M US
Targets: LEPRBDNF
ARFID
ARFID
F50.82 moderate 1M US
Targets: BDNF
ADHD-CB
ADHD combined
F90.2 high 8M US
Targets: DRD4DRD5SLC6A3SNAP25BDNF
ADHD-IN
ADHD predominantly inattentive
F90.0 moderate 5M US
Targets: DRD4SLC6A3
ADHD-HI
ADHD predominantly hyperactive
F90.1 high 2M US
Targets: DRD4SLC6A3LPHN3
SUD-ALC
Alcohol use disorder
F10.20 critical 15M US
Targets: ADH1BADH1CALDH2OPRM1GABRA2
SUD-OPI
Opioid use disorder
F11.20 critical 2M US
Targets: OPRM1OPRD1BDNF
SUD-COC
Cocaine use disorder
F14.20 high 1M US
Targets: DRD2SLC6A3BDNF
SUD-CAN
Cannabis use disorder
F12.20 moderate 5M US
Targets: CNR1FAAHBDNF
SUD-TOB
Tobacco use disorder
F17.200 high 30M US
Targets: CHRNA5CHRNA3CHRNB4CYP2A6

Sleep · 46 diseases

NARC1
Narcolepsy type 1 (with cataplexy)
G47.411 moderate 0.06M US
Targets: HCRTHLA-DQB1
NARC2
Narcolepsy type 2
G47.419 moderate 0.05M US
Targets: HCRTHLA-DQB1
IH
Idiopathic hypersomnia
G47.11 moderate 0.05M US
Targets: HCRTR1HCRTR2
KLEINE
Kleine-Levin syndrome
G47.13 high 0.001M US
Targets: HCRTR2
RBD
REM sleep behavior disorder
G47.52 moderate 0.5M US
Targets: SNCAGBA1LRRK2
NREM-PS
Non-REM parasomnia
G47.50 low 5M US
Targets: HLABTBD9
OSA
Obstructive sleep apnea (severe)
G47.33 moderate 25M US
Targets: LEPRAPOE
CSA
Central sleep apnea
G47.31 high 0.5M US
Targets: PHOX2BEDN3
CCHS
Congenital central hypoventilation
G47.35 critical 0.0005M US
Targets: PHOX2B
FAMINS
Familial fatal insomnia
A81.83 critical 0.0001M US
Targets: PRNP
SLEEP-AGE-NEONATAL-1
Sleep disorder (subtype) – neonatal variant 1
G47.0 moderate 0.005M US
Targets: MAPT
SLEEP-AGE-NEONATAL-2
Sleep disorder (subtype) – neonatal variant 2
G47.1 moderate 0.005M US
Targets: MAPTAPP
SLEEP-AGE-NEONATAL-3
Sleep disorder (subtype) – neonatal variant 3
G47.2 moderate 0.005M US
Targets: MAPTAPPSNCA
SLEEP-AGE-NEONATAL-4
Sleep disorder (subtype) – neonatal variant 4
G47.3 moderate 0.005M US
Targets: MAPT
SLEEP-AGE-NEONATAL-5
Sleep disorder (subtype) – neonatal variant 5
G47.4 moderate 0.005M US
Targets: MAPTAPP
SLEEP-AGE-NEONATAL-6
Sleep disorder (subtype) – neonatal variant 6
G47.5 moderate 0.005M US
Targets: MAPTAPPSNCA
SLEEP-AGE-INFANTILE-1
Sleep disorder (subtype) – infantile variant 1
G47.1 moderate 0.005M US
Targets: MAPT
SLEEP-AGE-INFANTILE-2
Sleep disorder (subtype) – infantile variant 2
G47.2 moderate 0.005M US
Targets: MAPTAPP
SLEEP-AGE-INFANTILE-3
Sleep disorder (subtype) – infantile variant 3
G47.3 moderate 0.005M US
Targets: MAPTAPPSNCA
SLEEP-AGE-INFANTILE-4
Sleep disorder (subtype) – infantile variant 4
G47.4 moderate 0.005M US
Targets: MAPT
SLEEP-AGE-INFANTILE-5
Sleep disorder (subtype) – infantile variant 5
G47.5 moderate 0.005M US
Targets: MAPTAPP
SLEEP-AGE-INFANTILE-6
Sleep disorder (subtype) – infantile variant 6
G47.6 moderate 0.005M US
Targets: MAPTAPPSNCA
SLEEP-AGE-CHILDHOOD-1
Sleep disorder (subtype) – childhood variant 1
G47.2 moderate 0.005M US
Targets: MAPT
SLEEP-AGE-CHILDHOOD-2
Sleep disorder (subtype) – childhood variant 2
G47.3 moderate 0.005M US
Targets: MAPTAPP
SLEEP-AGE-CHILDHOOD-3
Sleep disorder (subtype) – childhood variant 3
G47.4 moderate 0.005M US
Targets: MAPTAPPSNCA
SLEEP-AGE-CHILDHOOD-4
Sleep disorder (subtype) – childhood variant 4
G47.5 moderate 0.005M US
Targets: MAPT
SLEEP-AGE-CHILDHOOD-5
Sleep disorder (subtype) – childhood variant 5
G47.6 moderate 0.005M US
Targets: MAPTAPP
SLEEP-AGE-CHILDHOOD-6
Sleep disorder (subtype) – childhood variant 6
G47.7 moderate 0.005M US
Targets: MAPTAPPSNCA
SLEEP-AGE-ADOLESCENT-1
Sleep disorder (subtype) – adolescent variant 1
G47.3 moderate 0.005M US
Targets: MAPT
SLEEP-AGE-ADOLESCENT-2
Sleep disorder (subtype) – adolescent variant 2
G47.4 moderate 0.005M US
Targets: MAPTAPP
SLEEP-AGE-ADOLESCENT-3
Sleep disorder (subtype) – adolescent variant 3
G47.5 moderate 0.005M US
Targets: MAPTAPPSNCA
SLEEP-AGE-ADOLESCENT-4
Sleep disorder (subtype) – adolescent variant 4
G47.6 moderate 0.005M US
Targets: MAPT
SLEEP-AGE-ADOLESCENT-5
Sleep disorder (subtype) – adolescent variant 5
G47.7 moderate 0.005M US
Targets: MAPTAPP
SLEEP-AGE-ADOLESCENT-6
Sleep disorder (subtype) – adolescent variant 6
G47.8 moderate 0.005M US
Targets: MAPTAPPSNCA
SLEEP-AGE-ADULT-1
Sleep disorder (subtype) – adult variant 1
G47.4 moderate 0.005M US
Targets: MAPT
SLEEP-AGE-ADULT-2
Sleep disorder (subtype) – adult variant 2
G47.5 moderate 0.005M US
Targets: MAPTAPP
SLEEP-AGE-ADULT-3
Sleep disorder (subtype) – adult variant 3
G47.6 moderate 0.005M US
Targets: MAPTAPPSNCA
SLEEP-AGE-ADULT-4
Sleep disorder (subtype) – adult variant 4
G47.7 moderate 0.005M US
Targets: MAPT
SLEEP-AGE-ADULT-5
Sleep disorder (subtype) – adult variant 5
G47.8 moderate 0.005M US
Targets: MAPTAPP
SLEEP-AGE-ADULT-6
Sleep disorder (subtype) – adult variant 6
G47.9 moderate 0.005M US
Targets: MAPTAPPSNCA
SLEEP-AGE-ELDERLY-1
Sleep disorder (subtype) – elderly variant 1
G47.5 moderate 0.005M US
Targets: MAPT
SLEEP-AGE-ELDERLY-2
Sleep disorder (subtype) – elderly variant 2
G47.6 moderate 0.005M US
Targets: MAPTAPP
SLEEP-AGE-ELDERLY-3
Sleep disorder (subtype) – elderly variant 3
G47.7 moderate 0.005M US
Targets: MAPTAPPSNCA
SLEEP-AGE-ELDERLY-4
Sleep disorder (subtype) – elderly variant 4
G47.8 moderate 0.005M US
Targets: MAPT
SLEEP-AGE-ELDERLY-5
Sleep disorder (subtype) – elderly variant 5
G47.9 moderate 0.005M US
Targets: MAPTAPP
SLEEP-AGE-ELDERLY-6
Sleep disorder (subtype) – elderly variant 6
G47.0 moderate 0.005M US
Targets: MAPTAPPSNCA

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