lethargy Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating. (Human Phenotype Ontology, HP_0001254)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005202
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Genes

86 gene mutations causing the lethargy phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
AQP1 aquaporin 1 (Colton blood group)
AQP2 aquaporin 2 (collecting duct)
ASL argininosuccinate lyase
ASPA aspartoacylase
ASXL2 additional sex combs like transcriptional regulator 2
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATXN1L ataxin 1-like
BICC1 BicC family RNA binding protein 1
BTD biotinidase
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CACNB4 calcium channel, voltage-dependent, beta 4 subunit
CASR calcium-sensing receptor
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CHD2 chromodomain helicase DNA binding protein 2
CISD2 CDGSH iron sulfur domain 2
COL10A1 collagen, type X, alpha 1
COL19A1 collagen, type XIX, alpha 1
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
CPE carboxypeptidase E
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CYS1 cystin 1
DBT dihydrolipoamide branched chain transacylase E2
DCR Down syndrome chromosome region
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial
DES desmin
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
ELF3 E74-like factor 3 (ets domain transcription factor, epithelial-specific )
ELOVL4 ELOVL fatty acid elongase 4
EPCAM epithelial cell adhesion molecule
EPHA3 EPH receptor A3
F5 coagulation factor V (proaccelerin, labile factor)
FOXP3 forkhead box P3
GOLM1 golgi membrane protein 1
GRIA2 glutamate receptor, ionotropic, AMPA 2
GRID2 glutamate receptor, ionotropic, delta 2
HDAC2 histone deacetylase 2
HEXB hexosaminidase B (beta polypeptide)
HMGB1 high mobility group box 1
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
INPPL1 inositol polyphosphate phosphatase-like 1
JAM3 junctional adhesion molecule 3
LACTB2 lactamase, beta 2
LAMA4 laminin, alpha 4
LAMB2 laminin, beta 2 (laminin S)
LRIG2 leucine-rich repeats and immunoglobulin-like domains 2
MAP1B microtubule-associated protein 1B
MBOAT7 membrane bound O-acyltransferase domain containing 7
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MCOLN1 mucolipin 1
MECP2 methyl CpG binding protein 2
MN1 meningioma (disrupted in balanced translocation) 1
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NPHP3 nephronophthisis 3 (adolescent)
NT5E 5'-nucleotidase, ecto (CD73)
OAT ornithine aminotransferase
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PDPN podoplanin
PHOX2A paired-like homeobox 2a
POU2F2 POU class 2 homeobox 2
PPP1R3B protein phosphatase 1, regulatory subunit 3B
PRF1 perforin 1 (pore forming protein)
PROP1 PROP paired-like homeobox 1
PTGER4 prostaglandin E receptor 4 (subtype EP4)
PTGES3 prostaglandin E synthase 3 (cytosolic)
RAB27A RAB27A, member RAS oncogene family
RB1 retinoblastoma 1
SCN3A sodium channel, voltage gated, type III alpha subunit
SCNN1G sodium channel, non voltage gated 1 gamma subunit
SLC19A3 solute carrier family 19 (thiamine transporter), member 3
SLC23A1 solute carrier family 23 (ascorbic acid transporter), member 1
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SLC6A9 solute carrier family 6 (neurotransmitter transporter, glycine), member 9
SMAD3 SMAD family member 3
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SOCS7 suppressor of cytokine signaling 7
STX11 syntaxin 11
TIMP3 TIMP metallopeptidase inhibitor 3
TNNI3 troponin I type 3 (cardiac)
TP53 tumor protein p53
TRIM54 tripartite motif containing 54
TSTA3 tissue specific transplantation antigen P35B
VEGFA vascular endothelial growth factor A