DNM1L, dynamin 1 like, 10059

N. diseases: 273; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908531
rs121908531
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT Structural basis of mitochondrial receptor binding and constriction by DRP1. 29899447 2018
dbSNP: rs863223953
rs863223953
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT Structural basis of mitochondrial receptor binding and constriction by DRP1. 29899447 2018
dbSNP: rs879255685
rs879255685
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT Structural basis of mitochondrial receptor binding and constriction by DRP1. 29899447 2018
dbSNP: rs886037861
rs886037861
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT Structural basis of mitochondrial receptor binding and constriction by DRP1. 29899447 2018
dbSNP: rs1555119216
rs1555119216
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L
CUI: C1853139
Disease:
OPTIC ATROPHY 5 (disorder) 		0.800 GeneticVariation UNIPROT Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission. 28969390 2017
dbSNP: rs1555229948
rs1555229948
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L
CUI: C1853139
Disease:
OPTIC ATROPHY 5 (disorder) 		0.800 GeneticVariation UNIPROT Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission. 28969390 2017
dbSNP: rs121908531
rs121908531
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. 26604000 2016
dbSNP: rs121908531
rs121908531
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy. 27328748 2016
dbSNP: rs121908531
rs121908531
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function. 26992161 2016
dbSNP: rs121908531
rs121908531
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy. 27145208 2016
dbSNP: rs121908531
rs121908531
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst. 27301544 2016
dbSNP: rs863223953
rs863223953
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy. 27328748 2016
dbSNP: rs863223953
rs863223953
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy. 27145208 2016
dbSNP: rs863223953
rs863223953
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		T 0.800 CausalMutation CLINVAR A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy. 27145208 2016
dbSNP: rs863223953
rs863223953
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst. 27301544 2016
dbSNP: rs863223953
rs863223953
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. 26604000 2016
dbSNP: rs863223953
rs863223953
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		T 0.800 CausalMutation CLINVAR DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. 26604000 2016
dbSNP: rs863223953
rs863223953
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function. 26992161 2016
dbSNP: rs879255685
rs879255685
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. 26604000 2016
dbSNP: rs879255685
rs879255685
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function. 26992161 2016
dbSNP: rs879255685
rs879255685
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy. 27328748 2016
dbSNP: rs879255685
rs879255685
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst. 27301544 2016
dbSNP: rs879255685
rs879255685
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy. 27145208 2016
dbSNP: rs886037861
rs886037861
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. 26604000 2016
dbSNP: rs886037861
rs886037861
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function. 26992161 2016