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	birt-hogg-dube syndrome

Disease ID	629
Disease	birt-hogg-dube syndrome
Definition	Autosomal dominant neoplastic syndrome characterised by genodermatosis, lung cysts, spontaneous and recurrent PNEUMOTHORAX; and RENAL CANCER. It is associated with mutations in the folliculin protein gene (FLCN protein).
Synonym	birt hogg dube syndrome birt-hogg-dube syndrome [disease/finding] birt-hogg-dubÃ© syndrome fibrofolliculomas with trichodiscomas and acrochordons hornstein-birt-hogg-dubÃ© syndrome hornstein-knickenberg syndrome multiple fibrofolliculomas multiple fibrofolliculomas (disorder) multiple fibrofolliculomata
Orphanet	ORPHANET:122
OMIM	OMIM:135150
DOID	DOID:0050676
UMLS	C0346010
MeSH	D058249
SNOMED-CT	SNOMEDCT_US_2016_09_01:110985001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:20) C0032326 \| pneumothorax \| 7 C0007134 \| renal cell carcinoma \| 5 C0024115 \| lung disease \| 2 C0241961 \| renal angiomyolipoma \| 2 C0025202 \| melanoma \| 2 C0001430 \| adenoma \| 1 C0206695 \| neuroendocrine carcinoma \| 1 C0346255 \| renal oncocytoma \| 1 C0242379 \| lung cancer \| 1 C0024115 \| lung diseases \| 1 C0262587 \| parathyroid adenoma \| 1 C0027809 \| schwannoma \| 1 C0740457 \| kidney cancer \| 1 C0025202 \| melanomas \| 1 C0027859 \| vestibular schwannoma \| 1 C0279702 \| clear cell renal cell carcinoma \| 1 C0151468 \| thyroid adenoma \| 1 C0016045 \| fibroma \| 1 C0016045 \| fibromas \| 1 C0278678 \| metastatic renal cell carcinoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 201163 \| FLCN \| CLINVAR;CTD_human;GHR;UNIPROT;ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:23) 664 \| BNIP3 \| 1.317 \| DISEASES 83605 \| CCM2 \| 1.784 \| DISEASES 79577 \| CDC73 \| 1.262 \| DISEASES 387836 \| CLEC2A \| 3.605 \| DISEASES 8453 \| CUL2 \| 2.311 \| DISEASES 2271 \| FH \| 4.114 \| DISEASES 96459 \| FNIP1 \| 5.951 \| DISEASES 10457 \| GPNMB \| 2.724 \| DISEASES 3091 \| HIF1A \| 1.714 \| DISEASES 3855 \| KRT7 \| 2.626 \| DISEASES 440738 \| MAP1LC3C \| 3.429 \| DISEASES 2475 \| MTOR \| 3.278 \| DISEASES 4595 \| MUTYH \| 1.08 \| DISEASES 8502 \| PKP4 \| 3.894 \| DISEASES 5336 \| PLCG2 \| 1.666 \| DISEASES 5378 \| PMS1 \| 1.196 \| DISEASES 5728 \| PTEN \| 1.587 \| DISEASES 10670 \| RRAGA \| 2.988 \| DISEASES 64121 \| RRAGC \| 3.292 \| DISEASES 6566 \| SLC16A1 \| 1.649 \| DISEASES 140775 \| SMCR8 \| 3.177 \| DISEASES 84260 \| TCHP \| 2.59 \| DISEASES 7019 \| TFAM \| 1.287 \| DISEASES
Locus	(Waiting for update.)

Disease ID	629
Disease	birt-hogg-dube syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:21) HP:0002107 \| Collapsed lung \| 7 HP:0002108 \| Spontaneous pneumothorax \| 6 HP:0030731 \| Carcinoma \| 5 HP:0005584 \| Renal cell carcinoma \| 5 HP:0009726 \| Renal neoplasm \| 5 HP:0002664 \| Neoplasia \| 4 HP:0030436 \| Fibrofolliculoma \| 3 HP:0006772 \| Angiomyolipoma \| 2 HP:0002861 \| Melanoma \| 2 HP:0005948 \| Cystic lung disease \| 2 HP:0006770 \| Nonpapillary renal cell carcinoma \| 1 HP:0002647 \| Aortic dissection \| 1 HP:0011798 \| Renal oncocytoma \| 1 HP:0008069 \| Neoplasm of the skin \| 1 HP:0000854 \| Thyroid adenoma \| 1 HP:0200034 \| Papule \| 1 HP:0010614 \| Fibroma \| 1 HP:0009588 \| Vestibular Schwannoma \| 1 HP:0100008 \| Schwann cell tumour \| 1 HP:0006522 \| Repeated pneumothoraces \| 1 HP:0002897 \| Parathyroid adenoma \| 1

Disease ID	629
Disease	birt-hogg-dube syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:4) C0346011 \| fibrofolliculomas C0262587 \| parathyroid adenomas C0149781 \| spontaneous pneumothorax C0024115 \| lung disease
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0149781 \| spontaneous pneumothorax \| 6 C0346011 \| fibrofolliculomas \| 3 C0024115 \| lung disease \| 2

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

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

All Snps(Total Genotypes:5)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs137852929	NA	201163	FLCN	umls:C0346010	CLINVAR	NA	0.570043349	NA	FLCN	17	17215228	G	C,A
rs398124538	NA	201163	FLCN	umls:C0346010	CLINVAR	NA	0.570043349	NA	NA	NA	NA	NA	NA
rs727504645	NA	201163	FLCN	umls:C0346010	CLINVAR	NA	0.570043349	NA	FLCN	17	17224094	C	-
rs80338682	NA	201163	FLCN	umls:C0346010	CLINVAR	NA	0.570043349	NA	FLCN	17	17216394	-	G
rs80338683	NA	201163	FLCN	umls:C0346010	CLINVAR	NA	0.570043349	NA	FLCN	17	17216395	G	-

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	629
Disease	birt-hogg-dube syndrome
Case	(Waiting for update.)

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