Hepatolenticular Degeneration Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0019202
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Genes

142 genes associated with the disease Hepatolenticular Degeneration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
A2M alpha-2-macroglobulin
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ACACA acetyl-CoA carboxylase alpha
ACE angiotensin I converting enzyme
AFM afamin
AHCY adenosylhomocysteinase
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
ALB albumin
ALPP alkaline phosphatase, placental
AMELX amelogenin, X-linked
ANKS1B ankyrin repeat and sterile alpha motif domain containing 1B
ANXA5 annexin A5
APOE apolipoprotein E
ARSA arylsulfatase A
ASMT acetylserotonin O-methyltransferase
ASRGL1 asparaginase like 1
ATOX1 antioxidant 1 copper chaperone
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP7B ATPase, Cu++ transporting, beta polypeptide
ATRNL1 attractin-like 1
BDNF brain-derived neurotrophic factor
BEST1 bestrophin 1
BHMT betaine--homocysteine S-methyltransferase
BMS1 BMS1 ribosome biogenesis factor
BRAF B-Raf proto-oncogene, serine/threonine kinase
CALCR calcitonin receptor
CAMK2A calcium/calmodulin-dependent protein kinase II alpha
CAT catalase
CCDC115 coiled-coil domain containing 115
CCL27 chemokine (C-C motif) ligand 27
CCS copper chaperone for superoxide dismutase
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHMP2B charged multivesicular body protein 2B
CLU clusterin
COMMD1 copper metabolism (Murr1) domain containing 1
CP ceruloplasmin (ferroxidase)
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CRP C-reactive protein, pentraxin-related
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CXCL8 chemokine (C-X-C motif) ligand 8
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase)
DDIT3 DNA-damage-inducible transcript 3
DMD dystrophin
DMRT1 doublesex and mab-3 related transcription factor 1
DNAH8 dynein, axonemal, heavy chain 8
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
DRD2 dopamine receptor D2
ESD esterase D
FNDC3A fibronectin type III domain containing 3A
FOXA1 forkhead box A1
FOXA2 forkhead box A2
FXN frataxin
G6PD glucose-6-phosphate dehydrogenase
GALNS galactosamine (N-acetyl)-6-sulfatase
GAST gastrin
GCH1 GTP cyclohydrolase 1
GLUL glutamate-ammonia ligase
GOLM1 golgi membrane protein 1
GPT glutamic-pyruvate transaminase (alanine aminotransferase)
GPX1 glutathione peroxidase 1
GRAP2 GRB2-related adaptor protein 2
GRM5 glutamate receptor, metabotropic 5
GTF2A1L general transcription factor IIA, 1-like
HAMP hepcidin antimicrobial peptide
HFE hemochromatosis
HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase
HNF4A hepatocyte nuclear factor 4, alpha
IDO1 indoleamine 2,3-dioxygenase 1
IL10 interleukin 10
IL13 interleukin 13
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1R1 interleukin 1 receptor, type I
IL1RN interleukin 1 receptor antagonist
IL2 interleukin 2
IL23A interleukin 23, alpha subunit p19
IL6 interleukin 6
INO80 INO80 complex subunit
KDR kinase insert domain receptor
LOX lysyl oxidase
LOXL2 lysyl oxidase-like 2
LTA lymphotoxin alpha
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MAPK8 mitogen-activated protein kinase 8
MBD1 methyl-CpG binding domain protein 1
MBD6 methyl-CpG binding domain protein 6
MT1X metallothionein 1X
MTF1 metal-regulatory transcription factor 1
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
NAT10 N-acetyltransferase 10 (GCN5-related)
NDUFAB1 NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa
NDUFB7 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa
OPA1 optic atrophy 1 (autosomal dominant)
PAGR1 PAXIP1 associated glutamate-rich protein 1
PAH phenylalanine hydroxylase
PANK2 pantothenate kinase 2
PDCD10 programmed cell death 10
PDLIM3 PDZ and LIM domain 3
PNOC prepronociceptin
PNPLA3 patatin-like phospholipase domain containing 3
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
PPARG peroxisome proliferator-activated receptor gamma
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme
PPP3CB protein phosphatase 3, catalytic subunit, beta isozyme
PRC1 protein regulator of cytokinesis 1
PRNP prion protein
PROP1 PROP paired-like homeobox 1
RB1 retinoblastoma 1
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
RXRA retinoid X receptor, alpha
SDHAF2 succinate dehydrogenase complex assembly factor 2
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SERPINA3 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3
SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC31A1 solute carrier family 31 (copper transporter), member 1
SLC31A2 solute carrier family 31 (copper transporter), member 2
SLC39A14 solute carrier family 39 (zinc transporter), member 14
SLC39A8 solute carrier family 39 (zinc transporter), member 8
SLPI secretory leukocyte peptidase inhibitor
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SOD2 superoxide dismutase 2, mitochondrial
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
STON1 stonin 1
STON1-GTF2A1L STON1-GTF2A1L readthrough
TBC1D9 TBC1 domain family, member 9 (with GRAM domain)
THRB thyroid hormone receptor, beta
TIMP1 TIMP metallopeptidase inhibitor 1
TNF tumor necrosis factor
TP53 tumor protein p53
TXN thioredoxin
TYR tyrosinase
VCAM1 vascular cell adhesion molecule 1
VEGFA vascular endothelial growth factor A
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
XPR1 xenotropic and polytropic retrovirus receptor 1
XRCC5 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)
ZDHHC2 zinc finger, DHHC-type containing 2