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	baraitser-winter syndrome

Disease ID	1608
Disease	baraitser-winter syndrome
Synonym	baraitser-winter syndrome 1 brws1 cerebro-frontofacial syndrome, type 3 cofls iris coloboma with ptosis, hypertelorism, and mental retardation iris coloboma with ptosis, hypertelorism, and mental retardation (disorder)
Orphanet	ORPHANET:2995
OMIM	OMIM:243310
DOID	DOID:0060229
UMLS	C1855722
SNOMED-CT	SNOMEDCT_US_2016_09_01:702410002
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 71 \| ACTG1 \| GHR 60 \| ACTB \| CLINVAR;GHR;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:13) 60 \| ACTB \| 4.663 \| DISEASES 71 \| ACTG1 \| 5.972 \| DISEASES 1280 \| COL2A1 \| 2.266 \| DISEASES 1859 \| DYRK1A \| 2.538 \| DISEASES 80028 \| FBXL18 \| 4.913 \| DISEASES 6624 \| FSCN1 \| 2.242 \| DISEASES 2563 \| GABRD \| 3.872 \| DISEASES 57165 \| GJC2 \| 3.294 \| DISEASES 54820 \| NDE1 \| 3.52 \| DISEASES 728378 \| POTEF \| 5.85 \| DISEASES 5781 \| PTPN11 \| 1.657 \| DISEASES 54476 \| RNF216 \| 4.102 \| DISEASES 5756 \| TWF1 \| 4.526 \| DISEASES
Locus	Symbol \| Locus(Total Locus:2) ACTB \| 7p22.1 ACTG1 \| 17q25.3

Disease ID	1608
Disease	baraitser-winter syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	(Waiting for update.)

Disease ID	1608
Disease	baraitser-winter syndrome
Manually Symptom	(Waiting for update.)
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:20)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs281875331	NA	60	ACTB	umls:C1855722	CLINVAR	NA	0.24	NA	ACTB	7	5529624	T	G,C
rs281875331	22366783	60	ACTB	umls:C1855722	UNIPROT	De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.	0.24	2012	ACTB	7	5529624	T	G,C
rs281875332	NA	60	ACTB	umls:C1855722	CLINVAR	NA	0.24	NA	ACTB	7	5529331	G	C,A
rs281875332	22366783	60	ACTB	umls:C1855722	UNIPROT	De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.	0.24	2012	ACTB	7	5529331	G	C,A
rs281875333	NA	60	ACTB	umls:C1855722	CLINVAR	NA	0.24	NA	ACTB	7	5528497	G	T,A
rs281875333	22366783	60	ACTB	umls:C1855722	UNIPROT	De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.	0.24	2012	ACTB	7	5528497	G	T,A
rs281875334	22366783	60	ACTB	umls:C1855722	UNIPROT	De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.	0.24	2012	ACTB	7	5528496	C	T
rs281875334	NA	60	ACTB	umls:C1855722	CLINVAR	NA	0.24	NA	ACTB	7	5528496	C	T
rs368352689	NA	60	ACTB	umls:C1855722	CLINVAR	NA	0.24	NA	ACTB	7	5527786	C	G
rs397515470	NA	60	ACTB	umls:C1855722	CLINVAR	NA	0.24	NA	ACTB	7	5529175	C	T
rs587779769	NA	60	ACTB	umls:C1855722	CLINVAR	NA	0.24	NA	ACTB	7	5529315	G	A
rs587779770	NA	60	ACTB	umls:C1855722	CLINVAR	NA	0.24	NA	ACTB	7	5529304	C	T
rs587779771	NA	60	ACTB	umls:C1855722	CLINVAR	NA	0.24	NA	ACTB	7	5529300	A	G
rs587779772	NA	60	ACTB	umls:C1855722	CLINVAR	NA	0.24	NA	ACTB	7	5529217	C	G
rs587779773	NA	60	ACTB	umls:C1855722	CLINVAR	NA	0.24	NA	ACTB	7	5529168	A	G
rs587779774	NA	60	ACTB	umls:C1855722	CLINVAR	NA	0.24	NA	ACTB	7	5529165	G	A
rs587779775	NA	60	ACTB	umls:C1855722	CLINVAR	NA	0.24	NA	ACTB	7	5528637	G	A
rs587779776	NA	60	ACTB	umls:C1855722	CLINVAR	NA	0.24	NA	ACTB	7	5528472	G	C
rs587779777	NA	60	ACTB	umls:C1855722	CLINVAR	NA	0.24	NA	ACTB	7	5528458	C	T
rs587780273	NA	60	ACTB	umls:C1855722	CLINVAR	NA	0.24	NA	ACTB	7	5529594	C	T

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	1608
Disease	baraitser-winter syndrome
Case	(Waiting for update.)