thymus hypoplasia Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Underdevelopment of the thymus. (Human Phenotype Ontology, HP_0000778)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001823
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Genes

120 gene mutations causing the thymus hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif, 6
AFF1 AF4/FMR2 family, member 1
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
AP2B1 adaptor-related protein complex 2, beta 1 subunit
ARHGAP1 Rho GTPase activating protein 1
ARID5B AT rich interactive domain 5B (MRF1-like)
ATMIN ATM interactor
BAD BCL2-associated agonist of cell death
BAG3 BCL2-associated athanogene 3
BAG4 BCL2-associated athanogene 4
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein)
BCL11B B-cell CLL/lymphoma 11B (zinc finger protein)
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CACYBP calcyclin binding protein
CARM1 coactivator-associated arginine methyltransferase 1
CBFB core-binding factor, beta subunit
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CBX4 chromobox homolog 4
CCND3 cyclin D3
CD247 CD247 molecule
CD3E CD3e molecule, epsilon (CD3-TCR complex)
CD3G CD3g molecule, gamma (CD3-TCR complex)
CDK6 cyclin-dependent kinase 6
CHD7 chromodomain helicase DNA binding protein 7
COL10A1 collagen, type X, alpha 1
CRIP3 cysteine-rich protein 3
CTSD cathepsin D
CUX1 cut-like homeobox 1
CYCS cytochrome c, somatic
CYS1 cystin 1
DCK deoxycytidine kinase
DNASE2 deoxyribonuclease II, lysosomal
E2F4 E2F transcription factor 4, p107/p130-binding
EDNRA endothelin receptor type A
ELAVL1 ELAV like RNA binding protein 1
ESR1 estrogen receptor 1
ETS1 v-ets avian erythroblastosis virus E26 oncogene homolog 1
EWSR1 EWS RNA-binding protein 1
FBLN1 fibulin 1
FES FES proto-oncogene, tyrosine kinase
FOXN1 forkhead box N1
FOXP3 forkhead box P3
GFI1 growth factor independent 1 transcription repressor
HAX1 HCLS1 associated protein X-1
HELLS helicase, lymphoid-specific
HOXA1 homeobox A1
IKZF1 IKAROS family zinc finger 1 (Ikaros)
IL2RB interleukin 2 receptor, beta
IL2RG interleukin 2 receptor, gamma
IL6ST interleukin 6 signal transducer
IL7 interleukin 7
IL7R interleukin 7 receptor
JAK3 Janus kinase 3
JARID2 jumonji, AT rich interactive domain 2
JMJD6 jumonji domain containing 6
KAT6A K(lysine) acetyltransferase 6A
KDELR1 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1
KIAA0101 KIAA0101
KMT2E lysine (K)-specific methyltransferase 2E
LAT linker for activation of T cells
LBR lamin B receptor
LCK LCK proto-oncogene, Src family tyrosine kinase
LCP2 lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)
LRP2 low density lipoprotein receptor-related protein 2
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MSI2 musashi RNA-binding protein 2
NBN nibrin
NCAPH2 non-SMC condensin II complex, subunit H2
NCKAP1L NCK-associated protein 1-like
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NFAT5 nuclear factor of activated T-cells 5, tonicity-responsive
NHEJ1 nonhomologous end-joining factor 1
NLK nemo-like kinase
PFDN1 prefoldin subunit 1
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PIKFYVE phosphoinositide kinase, FYVE finger containing
PKNOX1 PBX/knotted 1 homeobox 1
PLXND1 plexin D1
PNP purine nucleoside phosphorylase
PPP3CB protein phosphatase 3, catalytic subunit, beta isozyme
PRKCH protein kinase C, eta
PRKDC protein kinase, DNA-activated, catalytic polypeptide
PTCRA pre T-cell antigen receptor alpha
PTPRC protein tyrosine phosphatase, receptor type, C
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RASSF2 Ras association (RalGDS/AF-6) domain family member 2
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
RHOH ras homolog family member H
RORC RAR-related orphan receptor C
RPL22 ribosomal protein L22
RUNX1 runt-related transcription factor 1
SERPINI2 serpin peptidase inhibitor, clade I (pancpin), member 2
SGPL1 sphingosine-1-phosphate lyase 1
SLC46A2 solute carrier family 46, member 2
SMAD3 SMAD family member 3
SMAD7 SMAD family member 7
SP4 Sp4 transcription factor
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
TBX1 T-box 1
TCF12 transcription factor 12
TCF3 transcription factor 3
TCF7 transcription factor 7 (T-cell specific, HMG-box)
TNF tumor necrosis factor
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TP53BP1 tumor protein p53 binding protein 1
TRAT1 T cell receptor associated transmembrane adaptor 1
VAV1 vav 1 guanine nucleotide exchange factor
VEGFA vascular endothelial growth factor A
WAS Wiskott-Aldrich syndrome
WIPF1 WAS/WASL interacting protein family, member 1
XRCC4 X-ray repair complementing defective repair in Chinese hamster cells 4
XRCC5 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)
XRCC6 X-ray repair complementing defective repair in Chinese hamster cells 6
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa
ZBTB1 zinc finger and BTB domain containing 1
ZEB1 zinc finger E-box binding homeobox 1
ZFP36 ZFP36 ring finger protein
ZMPSTE24 zinc metallopeptidase STE24