macrocytosis Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description condition in which erythrocytes are larger than normal in size (Mammalian Phenotype Ontology, MP_0000248)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000248
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Genes

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

Symbol Name
BLM Bloom syndrome, RecQ helicase-like
CDK5RAP2 CDK5 regulatory subunit associated protein 2
E2F4 E2F transcription factor 4, p107/p130-binding
EXOC6 exocyst complex component 6
HEPH hephaestin
KCNN4 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
LIG1 ligase I, DNA, ATP-dependent
MYB v-myb avian myeloblastosis viral oncogene homolog
MYO1C myosin IC
PRKAG1 protein kinase, AMP-activated, gamma 1 non-catalytic subunit
SCARB1 scavenger receptor class B, member 1
SPTA1 spectrin, alpha, erythrocytic 1
TSPAN33 tetraspanin 33