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encyclopedia of Rare Disease Annotation for Precision Medicine

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	mohr-tranebjaerg syndrome

Disease ID	981
Disease	mohr-tranebjaerg syndrome
Synonym	deafness (dfn-1) dystonia, mental deficiency and blindness deafness dystonia syndrome deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency deafness-dystonia syndrome deafness-dystonia-optic atrophy syndrome deafness-dystonia-optic neuronopathy syndrome deafness-dystonia-optic neuronopathy syndrome (disorder) dystonia-deafness syndrome mohr-tranebjÃ¦rg syndrome mts
Orphanet	ORPHANET:52368
OMIM	OMIM:304700
DOID	DOID:0050757
UMLS	C0796074
SNOMED-CT	SNOMEDCT_US_2016_09_01:702423009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0013421 \| dystonia \| 2 C0007758 \| cerebellar ataxia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 1678 \| TIMM8A \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:21) 60 \| ACTB \| 1.225 \| DISEASES 820 \| CAMP \| 1.408 \| DISEASES 1121 \| CHM \| 2.372 \| DISEASES 25792 \| CIZ1 \| 3.261 \| DISEASES 80067 \| DCAF17 \| 3.296 \| DISEASES 29952 \| DPP7 \| 3.047 \| DISEASES 128486 \| FITM2 \| 3.981 \| DISEASES 2643 \| GCH1 \| 3.022 \| DISEASES 2774 \| GNAL \| 3.131 \| DISEASES 5456 \| POU3F4 \| 2.668 \| DISEASES 6392 \| SDHD \| 1.838 \| DISEASES 84947 \| SERAC1 \| 3.249 \| DISEASES 8604 \| SLC25A12 \| 3.469 \| DISEASES 10165 \| SLC25A13 \| 2.284 \| DISEASES 8803 \| SUCLA2 \| 3.198 \| DISEASES 54457 \| TAF7L \| 4.737 \| DISEASES 100652748 \| TIMM23B \| 4.901 \| DISEASES 1678 \| TIMM8A \| 7.13 \| DISEASES 26521 \| TIMM8B \| 4.048 \| DISEASES 26520 \| TIMM9 \| 5.49 \| DISEASES 1861 \| TOR1A \| 2.205 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) TIMM8A \| Xq22.1

Disease ID	981
Disease	mohr-tranebjaerg syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:2) HP:0001332 \| Dystonia \| 2 HP:0001251 \| Ataxia \| 1

Disease ID	981
Disease	mohr-tranebjaerg syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0018784 \| sensorineural hearing loss
Text Mined Symptom	(Waiting for update.)

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

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

All Snps(Total Genotypes:3)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1054894	NA	1678	TIMM8A	umls:C0796074	CLINVAR	NA	0.484071628	NA	TIMM8A	X	101346555	G	A
rs80356559	NA	1678	TIMM8A	umls:C0796074	CLINVAR	NA	0.484071628	NA	TIMM8A	X	101348553	G	A
rs80356560	NA	1678	TIMM8A	umls:C0796074	CLINVAR	NA	0.484071628	NA	TIMM8A	X	101346595	G	C

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	981
Disease	mohr-tranebjaerg syndrome
Case	(Waiting for update.)

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