Newmann-Pick Disease Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1850363
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Genes

219 genes associated with the disease Newmann-Pick Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ACAD8 acyl-CoA dehydrogenase family, member 8
ALB albumin
ANXA1 annexin A1
ANXA6 annexin A6
APC adenomatous polyposis coli
APOBEC3A apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A
APOBEC3A_B APOBEC3A and APOBEC3B deletion hybrid
APOD apolipoprotein D
APOE apolipoprotein E
APP amyloid beta (A4) precursor protein
ARF6 ADP-ribosylation factor 6
ARHGAP42 Rho GTPase activating protein 42
ARID1A AT rich interactive domain 1A (SWI-like)
ARL2BP ADP-ribosylation factor-like 2 binding protein
ATM ATM serine/threonine kinase
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3
ATP7B ATPase, Cu++ transporting, beta polypeptide
B2M beta-2-microglobulin
BACE1 beta-site APP-cleaving enzyme 1
BCL2 B-cell CLL/lymphoma 2
BDNF brain-derived neurotrophic factor
BECN1 beclin 1, autophagy related
BMP2 bone morphogenetic protein 2
BSG basigin (Ok blood group)
BSND barttin CLCNK-type chloride channel accessory beta subunit
C2ORF61 chromosome 2 open reading frame 61
CALCR calcitonin receptor
CALR calreticulin
CASP8 caspase 8, apoptosis-related cysteine peptidase
CAV1 caveolin 1, caveolae protein, 22kDa
CCK cholecystokinin
CCL18 chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)
CCL2 chemokine (C-C motif) ligand 2
CCL5 chemokine (C-C motif) ligand 5
CD163 CD163 molecule
CD22 CD22 molecule
CD274 CD274 molecule
CD34 CD34 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CD58 CD58 molecule
CDCA5 cell division cycle associated 5
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDK5 cyclin-dependent kinase 5
CDK5R1 cyclin-dependent kinase 5, regulatory subunit 1 (p35)
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CHIT1 chitinase 1 (chitotriosidase)
CKS1B CDC28 protein kinase regulatory subunit 1B
CP ceruloplasmin (ferroxidase)
CPT1A carnitine palmitoyltransferase 1A (liver)
CRP C-reactive protein, pentraxin-related
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CUL9 cullin 9
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6
DAP death-associated protein
DAPK1 death-associated protein kinase 1
DDX58 DEAD (Asp-Glu-Ala-Asp) box polypeptide 58
DKK3 dickkopf WNT signaling pathway inhibitor 3
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
EGR1 early growth response 1
EIF4E eukaryotic translation initiation factor 4E
EPHA2 EPH receptor A2
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ETV5 ets variant 5
FABP3 fatty acid binding protein 3, muscle and heart
FAIM2 Fas apoptotic inhibitory molecule 2
FASN fatty acid synthase
FATE1 fetal and adult testis expressed 1
FCER2 Fc fragment of IgE, low affinity II, receptor for (CD23)
FCN2 ficolin (collagen/fibrinogen domain containing lectin) 2
FGF2 fibroblast growth factor 2 (basic)
FOS FBJ murine osteosarcoma viral oncogene homolog
FOSB FBJ murine osteosarcoma viral oncogene homolog B
FOXM1 forkhead box M1
FOXP3 forkhead box P3
GBA glucosidase, beta, acid
GBA2 glucosidase, beta (bile acid) 2
GCHFR GTP cyclohydrolase I feedback regulator
GDE1 glycerophosphodiester phosphodiesterase 1
GFAP glial fibrillary acidic protein
GNPDA2 glucosamine-6-phosphate deaminase 2
GORASP1 golgi reassembly stacking protein 1, 65kDa
GPC1 glypican 1
GRIA2 glutamate receptor, ionotropic, AMPA 2
GRM1 glutamate receptor, metabotropic 1
GULP1 GULP, engulfment adaptor PTB domain containing 1
HAVCR2 hepatitis A virus cellular receptor 2
HCRT hypocretin (orexin) neuropeptide precursor
HDAC2 histone deacetylase 2
HDAC6 histone deacetylase 6
HERPUD1 homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1
HLA-A major histocompatibility complex, class I, A
HOXC6 homeobox C6
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1
HSPB1 heat shock 27kDa protein 1
ICAM1 intercellular adhesion molecule 1
IFNG interferon, gamma
IGF1 insulin-like growth factor 1 (somatomedin C)
IGFBP6 insulin-like growth factor binding protein 6
IL12A interleukin 12A
IL17A interleukin 17A
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
JAK2 Janus kinase 2
JUN jun proto-oncogene
JUNB jun B proto-oncogene
JUND jun D proto-oncogene
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
LAMP1 lysosomal-associated membrane protein 1
LDLR low density lipoprotein receptor
LGALS9 lectin, galactoside-binding, soluble, 9
LIPA lipase A, lysosomal acid, cholesterol esterase
LOC105375355 uroplakin-3b
LPAR5 lysophosphatidic acid receptor 5
MAPT microtubule-associated protein tau
MGMT O-6-methylguanine-DNA methyltransferase
MLH1 mutL homolog 1
MMP1 matrix metallopeptidase 1
MNAT1 MNAT CDK-activating kinase assembly factor 1
MPRIP myosin phosphatase Rho interacting protein
MSC musculin
MTCH2 mitochondrial carrier 2
MYC v-myc avian myelocytomatosis viral oncogene homolog
NBEAL2 neurobeachin-like 2
NBN nibrin
NEGR1 neuronal growth regulator 1
NEUROG2 neurogenin 2
NLK nemo-like kinase
NLRP2 NLR family, pyrin domain containing 2
NOD2 nucleotide-binding oligomerization domain containing 2
NPB neuropeptide B
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NR0B2 nuclear receptor subfamily 0, group B, member 2
OSCP1 organic solute carrier partner 1
OSM oncostatin M
OTC ornithine carbamoyltransferase
OTUD4 OTU deubiquitinase 4
OVOL2 ovo-like zinc finger 2
PAK1 p21 protein (Cdc42/Rac)-activated kinase 1
PDCD4 programmed cell death 4 (neoplastic transformation inhibitor)
PDLIM7 PDZ and LIM domain 7 (enigma)
PER2 period circadian clock 2
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
POSTN periostin, osteoblast specific factor
POU5F1 POU class 5 homeobox 1
PRL prolactin
PSMB9 proteasome (prosome, macropain) subunit, beta type, 9
PTCH1 patched 1
PTK2 protein tyrosine kinase 2
PTPN12 protein tyrosine phosphatase, non-receptor type 12
PTPN6 protein tyrosine phosphatase, non-receptor type 6
PVALB parvalbumin
RAB9A RAB9A, member RAS oncogene family
RARRES3 retinoic acid receptor responder (tazarotene induced) 3
RASSF1 Ras association (RalGDS/AF-6) domain family member 1
RBM3 RNA binding motif (RNP1, RRM) protein 3
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
REST RE1-silencing transcription factor
RIPK1 receptor (TNFRSF)-interacting serine-threonine kinase 1
RIPK3 receptor-interacting serine-threonine kinase 3
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila)
RTRAF RNA transcription, translation and transport factor
S1PR3 sphingosine-1-phosphate receptor 3
SATB1 SATB homeobox 1
SCARB1 scavenger receptor class B, member 1
SCGB3A1 secretoglobin, family 3A, member 1
SCO2 SCO2 cytochrome c oxidase assembly protein
SEC16B SEC16 homolog B (S. cerevisiae)
SEZ6 seizure related 6 homolog (mouse)
SEZ6L seizure related 6 homolog (mouse)-like
SFRP1 secreted frizzled-related protein 1
SH2B1 SH2B adaptor protein 1
SHH sonic hedgehog
SIRT1 sirtuin 1
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLPI secretory leukocyte peptidase inhibitor
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SNAP25 synaptosomal-associated protein, 25kDa
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SOX2 SRY (sex determining region Y)-box 2
SPHK1 sphingosine kinase 1
SPNS1 spinster homolog 1 (Drosophila)
SPTBN2 spectrin, beta, non-erythrocytic 2
SRRM2 serine/arginine repetitive matrix 2
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
STAR steroidogenic acute regulatory protein
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
SYT1 synaptotagmin I
TARDBP TAR DNA binding protein
TERT telomerase reverse transcriptase
TGFBR1 transforming growth factor, beta receptor 1
THBS1 thrombospondin 1
TMEM97 transmembrane protein 97
TNF tumor necrosis factor
TP53 tumor protein p53
TP73 tumor protein p73
TRAF1 TNF receptor-associated factor 1
TRIM29 tripartite motif containing 29
TYMP thymidine phosphorylase
TYRP1 tyrosinase-related protein 1
UBE2N ubiquitin-conjugating enzyme E2N
UGCG UDP-glucose ceramide glucosyltransferase
ULK1 unc-51 like autophagy activating kinase 1
VEGFA vascular endothelial growth factor A
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VIM vimentin
VIP vasoactive intestinal peptide
WIF1 WNT inhibitory factor 1
WNK1 WNK lysine deficient protein kinase 1
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
XRCC6 X-ray repair complementing defective repair in Chinese hamster cells 6
ZMYND10 zinc finger, MYND-type containing 10
ZNF154 zinc finger protein 154