PedAM

Pediatric Disease Annotations & Medicines


	schwannomatosis

Disease ID	747
Disease	schwannomatosis
Definition	A rare genetic disorder characterized by the presence of multiple schwannomas.
Synonym	neurilemmomatosis neurilemmomatosis, congenital cutaneous schwannomatosis (disorder)
OMIM	OMIM:162091
DOID	DOID:3204
UMLS	C1335929
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:4) C0025286 \| meningiomas \| 3 C0027809 \| schwannoma \| 2 C0025286 \| meningioma \| 1 C0205834 \| multiple meningiomas \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) NF2 \| 4771 \| CLINVAR;CTD_human;ORPHANET SMARCB1 \| 6598 \| CTD_human;ORPHANET LZTR1 \| 8216 \| CTD_human;ORPHANET COQ6 \| 51004 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:28) 8216 \| LZTR1 \| DISEASES 2026 \| ENO2 \| DISEASES 79441 \| HAUS3 \| DISEASES 9113 \| LATS1 \| DISEASES 6598 \| SMARCB1 \| DISEASES 4438 \| MSH4 \| DISEASES 6601 \| SMARCC2 \| DISEASES 2776 \| GNAQ \| DISEASES 6285 \| S100B \| DISEASES 161742 \| SPRED1 \| DISEASES 146434 \| ZNF597 \| DISEASES 8289 \| ARID1A \| DISEASES 6605 \| SMARCE1 \| DISEASES 51004 \| COQ6 \| DISEASES 55274 \| PHF10 \| DISEASES 57492 \| ARID1B \| DISEASES 4771 \| NF2 \| DISEASES 4763 \| NF1 \| DISEASES 5573 \| PRKAR1A \| DISEASES 4478 \| MSN \| DISEASES 51684 \| SUFU \| DISEASES 29119 \| CTNNA3 \| DISEASES 5627 \| PROS1 \| DISEASES 6046 \| BRD2 \| DISEASES 11275 \| KLHL2 \| DISEASES 100423062 \| IGLL5 \| DISEASES 9 \| NAT1 \| DISEASES 4782 \| NFIC \| DISEASES
Locus	(Waiting for update.)

Disease ID	747
Disease	schwannomatosis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:4) HP:0100008 \| Schwann cell tumour \| 2 HP:0002858 \| Mengiomia \| 1 HP:0002176 \| Spinal cord compression \| 1 HP:0002664 \| Neoplasia \| 1

Disease ID	747
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 \| 3

Manually Genotype(Total Text Mining 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.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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