neuronal loss in central nervous system Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description This finding can be demonstrated by neuropathology. (Human Phenotype Ontology, HP_0002529)
External Link
Similar Terms
Downloads & Tools


24 genes associated with the neuronal loss in central nervous system phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
BRAT1 BRCA1-associated ATM activator 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C9ORF72 chromosome 9 open reading frame 72
CHMP2B charged multivesicular body protein 2B
CSF1R colony stimulating factor 1 receptor
CTSD cathepsin D
FUS FUS RNA binding protein
GRN granulin
HTT huntingtin
KCNT1 potassium channel, sodium activated subfamily T, member 1
MAPT microtubule-associated protein tau
NPC1 Niemann-Pick disease, type C1
PDYN prodynorphin
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
POLG polymerase (DNA directed), gamma
PRNP prion protein
PSAP prosaposin
PSEN1 presenilin 1
SCO2 SCO2 cytochrome c oxidase assembly protein
SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
TBP TATA box binding protein
VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C