Frontotemporal Dementia Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A basal ganglia disease characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language. (Human Disease Ontology, DOID_9255)
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33 genes associated with the Frontotemporal Dementia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ANG angiogenin, ribonuclease, RNase A family, 5
APOC1 apolipoprotein C-I
APOE apolipoprotein E
ATXN2 ataxin 2
BCHE butyrylcholinesterase
BTNL2 butyrophilin-like 2
C9ORF72 chromosome 9 open reading frame 72
CHMP2B charged multivesicular body protein 2B
CTSC cathepsin C
DAPK1 death-associated protein kinase 1
FUS FUS RNA binding protein
GRN granulin
MAPT microtubule-associated protein tau
MOBP myelin-associated oligodendrocyte basic protein
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1
OPTN optineurin
PFN1 profilin 1
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
RAB38 RAB38, member RAS oncogene family
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SMN1 survival of motor neuron 1, telomeric
SMN2 survival of motor neuron 2, centromeric
SOD1 superoxide dismutase 1, soluble
SQSTM1 sequestosome 1
STH saitohin
TARDBP TAR DNA binding protein
TMEM106B transmembrane protein 106B
TOMM40 translocase of outer mitochondrial membrane 40 homolog (yeast)
TREM2 triggering receptor expressed on myeloid cells 2
UBQLN1 ubiquilin 1
UBQLN2 ubiquilin 2
UNC13A unc-13 homolog A (C. elegans)
VEGFA vascular endothelial growth factor A