abnormal microglial cell morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the small, migratory, phagocytic, interstitial cells derived from myeloid progenitor cells and found in the parenchyma of the central nervous system; microglia are scavengers, engulfing dead cells and other debris, and in Alzheimer's disease, microglia are found associated with dying nerve cells and amyloid plaques (Mammalian Phenotype Ontology, MP_0000136)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000136
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57 gene mutations causing the abnormal microglial cell morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ABCD2 ATP-binding cassette, sub-family D (ALD), member 2
ABHD12 abhydrolase domain containing 12
ACP2 acid phosphatase 2, lysosomal
ARSA arylsulfatase A
ARSG arylsulfatase G
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
CD200 CD200 molecule
CD40LG CD40 ligand
CD81 CD81 molecule
CERS6 ceramide synthase 6
CLCN7 chloride channel, voltage-sensitive 7
CNTF ciliary neurotrophic factor
CSF1 colony stimulating factor 1 (macrophage)
CTSD cathepsin D
CX3CR1 chemokine (C-X3-C motif) receptor 1
DRD2 dopamine receptor D2
EN1 engrailed homeobox 1
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERCC2 excision repair cross-complementation group 2
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
GALC galactosylceramidase
GJC2 gap junction protein, gamma 2, 47kDa
GRN granulin
HOXB8 homeobox B8
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
IDUA iduronidase, alpha-L-
IL18 interleukin 18
IL34 interleukin 34
IL4 interleukin 4
IL4R interleukin 4 receptor
IL6 interleukin 6
INS insulin
KCNA5 potassium channel, voltage gated shaker related subfamily A, member 5
LDLR low density lipoprotein receptor
LRRK2 leucine-rich repeat kinase 2
MFSD8 major facilitator superfamily domain containing 8
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NEU1 sialidase 1 (lysosomal sialidase)
NPC1 Niemann-Pick disease, type C1
NXNL1 nucleoredoxin-like 1
OGG1 8-oxoguanine DNA glycosylase
PLP1 proteolipid protein 1
PSAP prosaposin
PSTPIP2 proline-serine-threonine phosphatase interacting protein 2
PTPN6 protein tyrosine phosphatase, non-receptor type 6
RHO rhodopsin
SCYL1 SCY1-like 1 (S. cerevisiae)
SPI1 Spi-1 proto-oncogene
SPP1 secreted phosphoprotein 1
SUMF1 sulfatase modifying factor 1
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TRIB2 tribbles pseudokinase 2
TSPAN2 tetraspanin 2
TYROBP TYRO protein tyrosine kinase binding protein