Blood Spots Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C4732730
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Genes

109 genes associated with the disease Blood Spots in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ACTB actin, beta
ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide
ALAD aminolevulinate dehydratase
ALB albumin
ANGPT2 angiopoietin 2
APOB apolipoprotein B
APOE apolipoprotein E
ARG1 arginase 1
ARSB arylsulfatase B
ARSH arylsulfatase family, member H
ATAD1 ATPase family, AAA domain containing 1
ATP7B ATPase, Cu++ transporting, beta polypeptide
BCR breakpoint cluster region
BDNF brain-derived neurotrophic factor
BRD2 bromodomain containing 2
BRD4 bromodomain containing 4
BTD biotinidase
CAP1 CAP, adenylate cyclase-associated protein 1 (yeast)
CFD complement factor D (adipsin)
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHIT1 chitinase 1 (chitotriosidase)
CP ceruloplasmin (ferroxidase)
CRP C-reactive protein, pentraxin-related
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CXCL10 chemokine (C-X-C motif) ligand 10
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
DMD dystrophin
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
EDA ectodysplasin A
ETV6 ets variant 6
F5 coagulation factor V (proaccelerin, labile factor)
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FLT1 fms-related tyrosine kinase 1
FMR1 fragile X mental retardation 1
FN1 fibronectin 1
FTCD formimidoyltransferase cyclodeaminase
G6PD glucose-6-phosphate dehydrogenase
GAA glucosidase, alpha; acid
GALC galactosylceramidase
GALT galactose-1-phosphate uridylyltransferase
GBA glucosidase, beta, acid
GJB2 gap junction protein, beta 2, 26kDa
GLA galactosidase, alpha
GLB1 galactosidase, beta 1
GNAS GNAS complex locus
GSTM1 glutathione S-transferase mu 1
GSTT1 glutathione S-transferase theta 1
GUSB glucuronidase, beta
HACD1 3-hydroxyacyl-CoA dehydratase 1
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HDGFL2 HDGF like 2
HPGDS hematopoietic prostaglandin D synthase
ICAM1 intercellular adhesion molecule 1
IDUA iduronidase, alpha-L-
IGFBP1 insulin-like growth factor binding protein 1
IGH immunoglobulin heavy locus
KMT2A lysine (K)-specific methyltransferase 2A
LAMC2 laminin, gamma 2
LGALS9 lectin, galactoside-binding, soluble, 9
LIPA lipase A, lysosomal acid, cholesterol esterase
LMLN leishmanolysin-like (metallopeptidase M8 family)
LNPEP leucyl/cystinyl aminopeptidase
LRP2 low density lipoprotein receptor-related protein 2
MBL2 mannose-binding lectin (protein C) 2, soluble
MCF2L MCF.2 cell line derived transforming sequence-like
MGAM maltase-glucoamylase
MME membrane metallo-endopeptidase
MMUT methylmalonyl-CoA mutase
MSMB microseminoprotein, beta-
MST1 macrophage stimulating 1
MT-CYB cytochrome b
MYH11 myosin, heavy chain 11, smooth muscle
NOTCH1 notch 1
NUCLEOLIN nucleolin multifunctional protein
PAH phenylalanine hydroxylase
PBX1 pre-B-cell leukemia homeobox 1
PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1
PER2 period circadian clock 2
PNP purine nucleoside phosphorylase
POTEF POTE ankyrin domain family, member F
PPT1 palmitoyl-protein thioesterase 1
PRB1 proline-rich protein BstNI subfamily 1
QDPR quinoid dihydropteridine reductase
RHD Rh blood group, D antigen
RUNX1 runt-related transcription factor 1
RUNX1T1 runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SERPINB6 serpin peptidase inhibitor, clade B (ovalbumin), member 6
SHBG sex hormone-binding globulin
SI sucrase-isomaltase (alpha-glucosidase)
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMN1 survival of motor neuron 1, telomeric
SMN2 survival of motor neuron 2, centromeric
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SORBS1 sorbin and SH3 domain containing 1
SUMO1 small ubiquitin-like modifier 1
TAL1 T-cell acute lymphocytic leukemia 1
TFRC transferrin receptor
TGFA transforming growth factor, alpha
TMPRSS13 transmembrane protease, serine 13
TTR transthyretin
TYR tyrosinase
VEGFA vascular endothelial growth factor A
VPS51 vacuolar protein sorting 51 homolog (S. cerevisiae)