abnormal mitochondrion morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Any structural anomaly of the mitochondria. (Human Phenotype Ontology, HP_0008322)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0006035
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78 gene mutations causing the abnormal mitochondrion morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADGRG6 adhesion G protein-coupled receptor G6
AFG3L2 AFG3-like AAA ATPase 2
BCL2L2 BCL2-like 2
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BDKRB2 bradykinin receptor B2
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CD44 CD44 molecule (Indian blood group)
CHDH choline dehydrogenase
CISD2 CDGSH iron sulfur domain 2
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
COL4A3BP collagen, type IV, alpha 3 (Goodpasture antigen) binding protein
COL6A3 collagen, type VI, alpha 3
COL8A2 collagen, type VIII, alpha 2
COQ7 coenzyme Q7 homolog, ubiquinone (yeast)
CST6 cystatin E/M
CTF1 cardiotrophin 1
CTNS cystinosin, lysosomal cystine transporter
CXADR coxsackie virus and adenovirus receptor
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
DAP3 death associated protein 3
DNM1L dynamin 1-like
DST dystonin
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ESRRG estrogen-related receptor gamma
GRID2 glutamate receptor, ionotropic, delta 2
HPRT1 hypoxanthine phosphoribosyltransferase 1
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HTRA2 HtrA serine peptidase 2
INS insulin
KIF5B kinesin family member 5B
MCU mitochondrial calcium uniporter
MED30 mediator complex subunit 30
MFN1 mitofusin 1
MFN2 mitofusin 2
MKL1 megakaryoblastic leukemia (translocation) 1
MPV17 MpV17 mitochondrial inner membrane protein
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MTERF2 mitochondrial transcription termination factor 2
MUC2 mucin 2, oligomeric mucus/gel-forming
NCOA3 nuclear receptor coactivator 3
NDUFA13 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
NOA1 nitric oxide associated 1
NRF1 nuclear respiratory factor 1
OMA1 OMA1 zinc metallopeptidase
OPA1 optic atrophy 1 (autosomal dominant)
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
PARK2 parkin RBR E3 ubiquitin protein ligase
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2
PEX13 peroxisomal biogenesis factor 13
PHB2 prohibitin 2
PINK1 PTEN induced putative kinase 1
PISD phosphatidylserine decarboxylase
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLD6 phospholipase D family, member 6
PNPLA2 patatin-like phospholipase domain containing 2
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
PPARGC1B peroxisome proliferator-activated receptor gamma, coactivator 1 beta
PRKG1 protein kinase, cGMP-dependent, type I
PTCD2 pentatricopeptide repeat domain 2
PTPMT1 protein tyrosine phosphatase, mitochondrial 1
PVALB parvalbumin
RNASEH1 ribonuclease H1
SESN2 sestrin 2
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1
SNPH syntaphilin
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
TFAM transcription factor A, mitochondrial
THEM5 thioesterase superfamily member 5
TK2 thymidine kinase 2, mitochondrial
TLR2 toll-like receptor 2
TOP1MT topoisomerase (DNA) I, mitochondrial
TYK2 tyrosine kinase 2
ULK1 unc-51 like autophagy activating kinase 1
VCP valosin containing protein
VDAC3 voltage-dependent anion channel 3