abnormal porphyrin level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description aberrant concentration of porphyrins or protoporphyrins (Mammalian Phenotype Ontology, MP_0011989)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0011989
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13 gene mutations causing the abnormal porphyrin level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
ANK1 ankyrin 1, erythrocytic
EXOC6 exocyst complex component 6
FECH ferrochelatase
HEPH hephaestin
HMBS hydroxymethylbilane synthase
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
SPTA1 spectrin, alpha, erythrocytic 1
SPTB spectrin, beta, erythrocytic
UROS uroporphyrinogen III synthase