adult onset Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. (Human Phenotype Ontology, HP_0003581)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003581
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Genes

104 genes associated with the adult onset phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AAGAB alpha- and gamma-adaptin binding protein
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ACTG1 actin gamma 1
AKT2 v-akt murine thymoma viral oncogene homolog 2
ANKH ANKH inorganic pyrophosphate transport regulator
ANO5 anoctamin 5
APOE apolipoprotein E
APTX aprataxin
AR androgen receptor
ARHGEF10 Rho guanine nucleotide exchange factor (GEF) 10
ATL1 atlastin GTPase 1
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATXN1 ataxin 1
BEAN1 brain expressed, associated with NEDD4, 1
C10ORF2 chromosome 10 open reading frame 2
C9ORF72 chromosome 9 open reading frame 72
CAV3 caveolin 3
CHMP2B charged multivesicular body protein 2B
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant
COCH cochlin
CP ceruloplasmin (ferroxidase)
CRYAB crystallin, alpha B
CSF1R colony stimulating factor 1 receptor
CTSF cathepsin F
CYLD cylindromatosis (turban tumor syndrome)
DCTN1 dynactin 1
DMD dystrophin
DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
DYSF dysferlin
EEF2 eukaryotic translation elongation factor 2
ENO3 enolase 3 (beta, muscle)
F5 coagulation factor V (proaccelerin, labile factor)
FBXO7 F-box protein 7
FHL1 four and a half LIM domains 1
FLNC filamin C, gamma
FMR1 fragile X mental retardation 1
GBA glucosidase, beta, acid
GBE1 glucan (1,4-alpha-), branching enzyme 1
GCK glucokinase (hexokinase 4)
GNAS GNAS complex locus
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GSN gelsolin
HFE2 hemochromatosis type 2 (juvenile)
HMGA1 high mobility group AT-hook 1
HNF1B HNF1 homeobox B
HNF4A hepatocyte nuclear factor 4, alpha
HNRNPDL heterogeneous nuclear ribonucleoprotein D-like
HSPB1 heat shock 27kDa protein 1
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
KIAA0196 KIAA0196
LDB3 LIM domain binding 3
LMNB1 lamin B1
MAPT microtubule-associated protein tau
MATR3 matrin 3
MED25 mediator complex subunit 25
MN1 meningioma (disrupted in balanced translocation) 1
MUC1 mucin 1, cell surface associated
MYOT myotilin
NAGA N-acetylgalactosaminidase, alpha-
NF2 neurofibromin 2 (merlin)
NOL3 nucleolar protein 3 (apoptosis repressor with CARD domain)
NOTCH3 notch 3
OSMR oncostatin M receptor
PABPN1 poly(A) binding protein, nuclear 1
PARK2 parkin RBR E3 ubiquitin protein ligase
PARK7 parkinson protein 7
PAX4 paired box 4
PDGFB platelet-derived growth factor beta polypeptide
PNPLA2 patatin-like phospholipase domain containing 2
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
PRNP prion protein
PSEN1 presenilin 1
PSEN2 presenilin 2
PTEN phosphatase and tensin homolog
PYGM phosphorylase, glycogen, muscle
RNF170 ring finger protein 170
SCN10A sodium channel, voltage gated, type X alpha subunit
SDHAF2 succinate dehydrogenase complex assembly factor 2
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SMN1 survival of motor neuron 1, telomeric
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SPG11 spastic paraplegia 11 (autosomal recessive)
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
STIM1 stromal interaction molecule 1
TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
TFG TRK-fused gene
TGM6 transglutaminase 6
TMEM43 transmembrane protein 43
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C
TNNI3 troponin I type 3 (cardiac)
TNPO3 transportin 3
TREX1 three prime repair exonuclease 1
TSC1 tuberous sclerosis 1
TTBK2 tau tubulin kinase 2
TTN titin
TTR transthyretin
UBQLN2 ubiquilin 2
VSX1 visual system homeobox 1