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encyclopedia of Rare Disease Annotation for Precision Medicine

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	schwannomatosis

Disease ID	915
Disease	schwannomatosis
Definition	A rare genetic disorder characterized by the presence of multiple schwannomas.
Synonym	neurilemmomatosis neurilemmomatosis, congenital cutaneous schwannomatosis (disorder)
Orphanet	ORPHANET:93921
OMIM	OMIM:162091
DOID	DOID:3204
UMLS	C1335929
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:4) C0025286 \| meningiomas \| 3 C0027809 \| schwannoma \| 2 C0205834 \| multiple meningiomas \| 1 C0025286 \| meningioma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 51004 \| COQ6 \| ORPHANET 6598 \| SMARCB1 \| CTD_human;ORPHANET 4771 \| NF2 \| CLINVAR;CTD_human;ORPHANET 8216 \| LZTR1 \| CTD_human;ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:17) 8289 \| ARID1A \| 1.054 \| DISEASES 57492 \| ARID1B \| 1.889 \| DISEASES 6046 \| BRD2 \| 1.679 \| DISEASES 51004 \| COQ6 \| 4.448 \| DISEASES 29119 \| CTNNA3 \| 2.004 \| DISEASES 100423062 \| IGLL5 \| 1.67 \| DISEASES 11275 \| KLHL2 \| 2.214 \| DISEASES 4478 \| MSN \| 2.161 \| DISEASES 9 \| NAT1 \| 1.741 \| DISEASES 4763 \| NF1 \| 5.576 \| DISEASES 4771 \| NF2 \| 7.234 \| DISEASES 4782 \| NFIC \| 2.507 \| DISEASES 55274 \| PHF10 \| 3.251 \| DISEASES 5573 \| PRKAR1A \| 2.753 \| DISEASES 5627 \| PROS1 \| 1.672 \| DISEASES 6605 \| SMARCE1 \| 3.342 \| DISEASES 51684 \| SUFU \| 1.598 \| DISEASES
Locus	(Waiting for update.)

Disease ID	915
Disease	schwannomatosis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:6) HP:0100008 \| Schwann cell tumour \| 2 HP:0002176 \| Spinal cord compression \| 1 HP:0002664 \| Neoplasia \| 1 HP:0002858 \| Mengiomia \| 1 HP:0012531 \| Pain \| 1 HP:0012532 \| Chronic pain \| 1

Disease ID	915
Disease	schwannomatosis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:2) C1370659 \| plexiform schwannoma C0027809 \| schwannomas
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0027809 \| schwannomas \| 2

Manually Genotype(Total Manually Genotypes:2)
Gene	Mutation	DOI	Article Title
SMARCB1 COQ6 CoQ10	CoQ10	doi:10.1038/gim.2014.39	A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis
SMARCB1 COQ6 CoQ10	COQ6	doi:10.1038/gim.2014.39	A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis

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

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs587776564	NA	4771	NF2	umls:C1335929	CLINVAR	NA	0.361357209	NA	NF2	22	29636761	-	G
rs587776565	NA	4771	NF2	umls:C1335929	CLINVAR	NA	0.361357209	NA	NF2	22	29636841	AAGGACA	-

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	915
Disease	schwannomatosis
Case	(Waiting for update.)

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