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	mitochondrial encephalomyopathy

Disease ID	777
Disease	mitochondrial encephalomyopathy
Definition	A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)
Synonym	enceph mitochondrial encephalomyopathies mitochondrial encephalomyopathies, mitochondrial encephalomyopathy, mitochondrial mitochondrial enceph mitochondrial encephalomyopathies mitochondrial encephalomyopathies [disease/finding] mitochondrial encephalomyopathy (disorder) mitochondrial myoencephalopathy
DOID	DOID:890
UMLS	C0162666
MeSH	D017237
SNOMED-CT	SNOMEDCT_US_2016_09_01:447292006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:10) C0001125 \| lactic acidosis \| 28 C0035335 \| retinoblastoma \| 1 C0035309 \| retinopathy \| 1 C0854914 \| bilateral retinoblastoma \| 1 C0497327 \| dementia \| 1 C0035334 \| pigmentary retinopathy \| 1 C0043202 \| wolff-parkinson-white syndrome \| 1 C0014544 \| epilepsy \| 1 C0029124 \| optic atrophy \| 1 C0751651 \| mitochondrial disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:15) 10667 \| FARS2 \| CLINVAR 4538 \| MT-ND4 \| UniProtKB-KW 9997 \| SCO2 \| CTD_human 4535 \| MT-ND1 \| UniProtKB-KW 4540 \| MT-ND5 \| UniProtKB-KW 4541 \| MT-ND6 \| UniProtKB-KW 4514 \| MT-CO3 \| UniProtKB-KW 54968 \| TMEM70 \| CTD_human 55572 \| FOXRED1 \| CTD_human 10059 \| DNM1L \| CTD_human 91574 \| C12orf65 \| CTD_human 4720 \| NDUFS2 \| CTD_human 56947 \| MFF \| CLINVAR 26235 \| FBXL4 \| CLINVAR 4729 \| NDUFV2 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:11) 4567 \| MT-TL1 \| CIPHER 4556 \| MT-TE \| CIPHER 4573 \| MT-TR \| CIPHER 54968 \| TMEM70 \| CTD_human 55572 \| FOXRED1 \| CTD_human 9997 \| SCO2 \| CTD_human 4720 \| NDUFS2 \| CTD_human 4567 \| TRNL1 \| CTD_human 91574 \| C12orf65 \| CTD_human 10059 \| DNM1L \| CTD_human 4729 \| NDUFV2 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:78) 23746 \| AIPL1 \| 1.802 \| DISEASES 6314 \| ATXN7 \| 1.134 \| DISEASES 617 \| BCS1L \| 1.09 \| DISEASES 23607 \| CD2AP \| 1.463 \| DISEASES 1203 \| CLN5 \| 1.45 \| DISEASES 1282 \| COL4A1 \| 1.342 \| DISEASES 10229 \| COQ7 \| 2.431 \| DISEASES 55157 \| DARS2 \| 3.492 \| DISEASES 79993 \| ELOVL7 \| 3.343 \| DISEASES 7957 \| EPM2A \| 1.125 \| DISEASES 79675 \| FASTKD1 \| 3.584 \| DISEASES 2242 \| FES \| 1.432 \| DISEASES 2271 \| FH \| 1.167 \| DISEASES 85476 \| GFM1 \| 1.784 \| DISEASES 84705 \| GTPBP3 \| 3.342 \| DISEASES 3127 \| HLA-DRB5 \| 1.103 \| DISEASES 3316 \| HSPB2 \| 1.343 \| DISEASES 5654 \| HTRA1 \| 1.281 \| DISEASES 56704 \| JPH1 \| 2.288 \| DISEASES 987 \| LRBA \| 1.162 \| DISEASES 4151 \| MB \| 1.042 \| DISEASES 83552 \| MFRP \| 1.759 \| DISEASES 51021 \| MRPS16 \| 3.883 \| DISEASES 92399 \| MRRF \| 2.457 \| DISEASES 4508 \| MT-ATP6 \| 4.237 \| DISEASES 4509 \| MT-ATP8 \| 1.983 \| DISEASES 4512 \| MT-CO1 \| 2.565 \| DISEASES 4513 \| MT-CO2 \| 2.514 \| DISEASES 4514 \| MT-CO3 \| 2.688 \| DISEASES 4519 \| MT-CYB \| 3.768 \| DISEASES 4535 \| MT-ND1 \| 2.966 \| DISEASES 4536 \| MT-ND2 \| 2.36 \| DISEASES 4537 \| MT-ND3 \| 3.939 \| DISEASES 4538 \| MT-ND4 \| 4.444 \| DISEASES 4539 \| MT-ND4L \| 2.766 \| DISEASES 4540 \| MT-ND5 \| 5.488 \| DISEASES 4541 \| MT-ND6 \| 4.052 \| DISEASES 25821 \| MTO1 \| 2.092 \| DISEASES 4555 \| MT-TD \| 2.881 \| DISEASES 4564 \| MT-TH \| 2.776 \| DISEASES 4565 \| MT-TI \| 2.991 \| DISEASES 4566 \| MT-TK \| 7.437 \| DISEASES 4567 \| MT-TL1 \| 5.91 \| DISEASES 4568 \| MT-TL2 \| 3 \| DISEASES 4570 \| MT-TN \| 3.637 \| DISEASES 4574 \| MT-TS1 \| 3.512 \| DISEASES 4578 \| MT-TW \| 4.269 \| DISEASES 4694 \| NDUFA1 \| 3.825 \| DISEASES 4702 \| NDUFA8 \| 3.414 \| DISEASES 29078 \| NDUFAF4 \| 3.262 \| DISEASES 137682 \| NDUFAF6 \| 2.949 \| DISEASES 4719 \| NDUFS1 \| 2.304 \| DISEASES 4720 \| NDUFS2 \| 1.441 \| DISEASES 4723 \| NDUFV1 \| 3.201 \| DISEASES 27247 \| NFU1 \| 2.419 \| DISEASES 22953 \| P2RX2 \| 2.047 \| DISEASES 5160 \| PDHA1 \| 2.647 \| DISEASES 23590 \| PDSS1 \| 2.478 \| DISEASES 5209 \| PFKFB3 \| 1.626 \| DISEASES 65018 \| PINK1 \| 1.539 \| DISEASES 5339 \| PLEC \| 1.127 \| DISEASES 5542 \| PRB1 \| 2.331 \| DISEASES 57038 \| RARS2 \| 3.374 \| DISEASES 7955 \| RNF217-AS1 \| 1.785 \| DISEASES 6053 \| RNR2 \| 3.257 \| DISEASES 6103 \| RPGR \| 1.21 \| DISEASES 26278 \| SACS \| 1.371 \| DISEASES 6541 \| SLC7A1 \| 1.376 \| DISEASES 6080 \| SNORA73A \| 2.45 \| DISEASES 8803 \| SUCLA2 \| 4.788 \| DISEASES 8802 \| SUCLG1 \| 3.556 \| DISEASES 8801 \| SUCLG2 \| 1.463 \| DISEASES 6834 \| SURF1 \| 2.467 \| DISEASES 7019 \| TFAM \| 2.866 \| DISEASES 7407 \| VARS \| 2.499 \| DISEASES 57176 \| VARS2 \| 2.732 \| DISEASES 7417 \| VDAC2 \| 2.192 \| DISEASES 23038 \| WDTC1 \| 1.882 \| DISEASES
Locus	(Waiting for update.)

Disease ID	777
Disease	mitochondrial encephalomyopathy
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:14) HP:0003128 \| Lactic acidosis \| 31 HP:0001941 \| acidemia \| 31 HP:0001297 \| Cerebral vascular events \| 8 HP:0002401 \| Strokelike episodes \| 6 HP:0001250 \| Seizures \| 2 HP:0100543 \| Cognitive deficits \| 1 HP:0001716 \| Wolff-Parkinson-White syndrome \| 1 HP:0001695 \| Cardiac arrest \| 1 HP:0000726 \| Dementia \| 1 HP:0009919 \| Retinoblastoma \| 1 HP:0000488 \| Noninflammatory retina disease \| 1 HP:0000648 \| Optic-nerve degeneration \| 1 HP:0000580 \| Pigmentary retinopathy \| 1 HP:0000365 \| Hearing impairment \| 1

Disease ID	777
Disease	mitochondrial encephalomyopathy
Manually Symptom	UMLS \| Name(Total Manually Symptoms:14) C1258215 \| ileus C0340425 \| hypertrophic cardiomyopathy C0270612 \| leukoencephalopathy C0205710 \| alpers-huttenlocher syndrome C0042373 \| angiopathy C0026266 \| mitral regurgitation C0020676 \| hypothyroidism C0020625 \| hyponatremia C0019080 \| hemorrhage C0018801 \| cardiac failure C0018799 \| heart diseases C0008312 \| primary biliary cirrhosis C0002514 \| aminoacidopathy C0001125 \| lactic acidosis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0001125 \| lactic acidosis \| 14

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:9)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121434456	NA	4573	TRNR	umls:C0162666	CLINVAR	NA	0.12	NA	NA	MT	10438	A	G
rs121434462	NA	4568	TRNL2	umls:C0162666	CLINVAR	NA	0.12	NA	NA	MT	12315	G	A
rs199474661	NA	4567	TRNL1	umls:C0162666	CLINVAR	NA	0.240542884	NA	NA	MT	3252	A	G
rs207459999	NA	4519	CYTB	umls:C0162666	CLINVAR	NA	0.12	NA	CYTB	MT	15242	G	A
rs387906731	NA	4573	TRNR	umls:C0162666	CLINVAR	NA	0.12	NA	NA	MT	10450	A	G
rs387906736	NA	4578	TRNW	umls:C0162666	CLINVAR	NA	0.12	NA	NA	MT	5556	G	A
rs397514610	NA	10667	FARS2	umls:C0162666	CLINVAR	NA	0.12	NA	FARS2	6	5369001	A	G
rs397514615	NA	56947	MFF	umls:C0162666	CLINVAR	NA	0.12	NA	MFF	2	227330777	C	T
rs398123061	NA	26235	FBXL4	umls:C0162666	CLINVAR	NA	0.120271442	NA	FBXL4	6	98875673	G	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	777
Disease	mitochondrial encephalomyopathy
Case	(Waiting for update.)

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