Genes associated with “ENSG00000288636

48 genes foundOpen Targets: young-onset Parkinson disease
How are genes scored? (0–100 composite)
-5–15
ClinGen
0–15
HPO Freq
0–15
Open Targets
0–12
Phen2Gene
0–10
ClinVar
0–8
Constraint
0–8
Dosage
0–8
OMIM CS
0–8
PanelApp
0–5
OMIM
0–5
G2P
0–4
Breadth
Tiers:Strong Candidates (≥20)Consider (≥8)Possible (≥3)
Evidence dots:
HPOClinVarPhen2GeneOpen TargetsPanelApp
hover for details

Consider

13 genes
16ATP13A2
Def

ATPase cation transporting 13A2

DnaJ heat shock protein family (Hsp40) member C6

14SYNJ1
Def

synaptojanin 1

12PRKN
Def

parkin RBR E3 ubiquitin protein ligase

12SCN8A
Def

sodium voltage-gated channel alpha subunit 8

11ATP1A3
Def

ATPase Na+/K+ transporting subunit alpha 3

10PMP22
Def

peripheral myelin protein 22

10ARX
Def

aristaless related homeobox

calcium voltage-gated channel subunit alpha1 A

10HPRT1
Def

hypoxanthine phosphoribosyltransferase 1

10PARK7
Def

Parkinsonism associated deglycase

9PINK1
Def

PTEN induced kinase 1

8GBA1
Def

glucosylceramidase beta 1

Possible

21 genes — click to expand
8ATP2B2
Def

ATPase plasma membrane Ca2+ transporting 2

novel protein

vacuolar protein sorting 13 homolog C

podocalyxin like

6LRRK2
Def

leucine rich repeat kinase 2

6MECP2
Def

methyl-CpG binding protein 2

potassium calcium-activated channel subfamily N member 2

glutamate ionotropic receptor delta type subunit 2

ataxin 7 like 1

5BSCL2
Def

BSCL2 lipid droplet biogenesis associated, seipin

parkin coregulated

4ASPA
Def

aspartoacylase

4TPP1
Def

tripeptidyl peptidase 1

4SPTBN4
Def

spectrin beta, non-erythrocytic 4

4HCN1
Def

hyperpolarization activated cyclic nucleotide gated potassium channel 1

4GALC
Def

galactosylceramidase

4MPZ
Def

myelin protein zero

4HCN2
Def

hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2

4HEXB
Def

hexosaminidase subunit beta

4HTRA2
Def

HtrA serine peptidase 2

4NPC1
Def

NPC intracellular cholesterol transporter 1

Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.