Shwachman Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0272170
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Genes

45 genes associated with the disease Shwachman Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACTB actin, beta
ALB albumin
ARHGEF12 Rho guanine nucleotide exchange factor (GEF) 12
ASXL1 additional sex combs like transcriptional regulator 1
ATM ATM serine/threonine kinase
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CSF3 colony stimulating factor 3 (granulocyte)
CYBB cytochrome b-245, beta polypeptide
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1
DNAJC21 DnaJ (Hsp40) homolog, subfamily C, member 21
EFL1 elongation factor like GTPase 1
EIF6 eukaryotic translation initiation factor 6
FHIT fragile histidine triad
GDF9 growth differentiation factor 9
IKZF1 IKAROS family zinc finger 1 (Ikaros)
L3MBTL1 l(3)mbt-like 1 (Drosophila)
LYZ lysozyme
MYC v-myc avian myelocytomatosis viral oncogene homolog
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PRPH2 peripherin 2 (retinal degeneration, slow)
PTEN phosphatase and tensin homolog
RPA1 replication protein A1, 70kDa
RPL4 ribosomal protein L4
RPS19 ribosomal protein S19
RUNX1 runt-related transcription factor 1
SBDS Shwachman-Bodian-Diamond syndrome
SDS serine dehydratase
SERPINI2 serpin peptidase inhibitor, clade I (pancpin), member 2
SF3B1 splicing factor 3b, subunit 1, 155kDa
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SMAD2 SMAD family member 2
SOD2 superoxide dismutase 2, mitochondrial
SRP54 signal recognition particle 54kDa
TAL1 T-cell acute lymphocytic leukemia 1
TET2 tet methylcytosine dioxygenase 2
TGFB1 transforming growth factor, beta 1
TGFB3 transforming growth factor, beta 3
TP53 tumor protein p53
TPP1 tripeptidyl peptidase I
TPST1 tyrosylprotein sulfotransferase 1
TST thiosulfate sulfurtransferase (rhodanese)
TYW1 tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon