PedAM

Pediatric Disease Annotations & Medicines


	bernard-soulier syndrome

Disease ID	159
Disease	bernard-soulier syndrome
Definition	A familial coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, and impaired prothrombin consumption.
Synonym	bernard - soulier thrombopathy bernard soulier syndrome bernard soulier syndrome (disorder) bernard-soulier syndrome [disease/finding] bernard-soulier thrombopathy bss giant platelet syndrome giant platelet syndrome (disorder) hemorrhagic dystrophic thrombocytopenia platelet syndromes, giant syndrome, bernard-soulier syndrome, giant platelet syndromes, giant platelet thrombopathy, bernard-soulier
Orphanet	ORPHANET:274
OMIM	OMIM:231200 OMIM:605041
DOID	DOID:2217
UMLS	C0005129
MeSH	D001606
SNOMED-CT	SNOMEDCT_US_2016_09_01:54569005;SNOMEDCT_US_2016_09_01:234478007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0085411 \| angiodysplasia \| 2 C0006142 \| breast cancer \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) GP9 \| 2815 \| CLINVAR;CTD_human;ORPHANET;UNIPROT;UniProtKB-KW GP1BB \| 2812 \| CTD_human;ORPHANET;UNIPROT;UniProtKB-KW GP1BA \| 2811 \| CTD_human;ORPHANET;UNIPROT;UniProtKB-KW
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 2811 \| GP1BA \| infer 2812 \| GP1BB \| infer 2815 \| GP9 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:66) 928 \| CD9 \| DISEASES 3937 \| LCP2 \| DISEASES 3566 \| IL4R \| DISEASES 7066 \| THPO \| DISEASES 4627 \| MYH9 \| DISEASES 81027 \| TUBB1 \| DISEASES 56920 \| SEMA3G \| DISEASES 9479 \| MAPK8IP1 \| DISEASES 6626 \| SNRPA \| DISEASES 5908 \| RAP1B \| DISEASES 967 \| CD63 \| DISEASES 25833 \| POU2F3 \| DISEASES 7057 \| THBS1 \| DISEASES 7450 \| VWF \| DISEASES 3690 \| ITGB3 \| DISEASES 4025 \| LPO \| DISEASES 3674 \| ITGA2B \| DISEASES 10552 \| ARPC1A \| DISEASES 6403 \| SELP \| DISEASES 83706 \| FERMT3 \| DISEASES 5473 \| PPBP \| DISEASES 3673 \| ITGA2 \| DISEASES 338323 \| NLRP14 \| DISEASES 2357 \| FPR1 \| DISEASES 3688 \| ITGB1 \| DISEASES 2815 \| GP9 \| DISEASES 2147 \| F2 \| DISEASES 51206 \| GP6 \| DISEASES 7534 \| YWHAZ \| DISEASES 3964 \| LGALS8 \| DISEASES 4778 \| NFE2 \| DISEASES 55588 \| MED29 \| DISEASES 9377 \| COX5A \| DISEASES 2814 \| GP5 \| DISEASES 2149 \| F2R \| DISEASES 2027 \| ENO3 \| DISEASES 10250 \| SRRM1 \| DISEASES 26276 \| VPS33B \| DISEASES 79969 \| ATAT1 \| DISEASES 2811 \| GP1BA \| DISEASES 25825 \| BACE2 \| DISEASES 2152 \| F3 \| DISEASES 9588 \| PRDX6 \| DISEASES 8328 \| GFI1B \| DISEASES 54820 \| NDE1 \| DISEASES 204 \| AK2 \| DISEASES 50618 \| ITSN2 \| DISEASES 5906 \| RAP1A \| DISEASES 5336 \| PLCG2 \| DISEASES 2157 \| F8 \| DISEASES 23038 \| WDTC1 \| DISEASES 2316 \| FLNA \| DISEASES 60495 \| HPSE2 \| DISEASES 5900 \| RALGDS \| DISEASES 4352 \| MPL \| DISEASES 2155 \| F7 \| DISEASES 22852 \| ANKRD26 \| DISEASES 2623 \| GATA1 \| DISEASES 3980 \| LIG3 \| DISEASES 2877 \| GPX2 \| DISEASES 2812 \| GP1BB \| DISEASES 2160 \| F11 \| DISEASES 6915 \| TBXA2R \| DISEASES 3113 \| HLA-DPA1 \| DISEASES 196527 \| ANO6 \| DISEASES 23218 \| NBEAL2 \| DISEASES
Locus	Symbol \| Locus(Total Locus:3) GP1BB \| 22q11.21 GP1BA \| 17p13.2 GP9 \| 3q21.3

Disease ID	159
Disease	bernard-soulier syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:6) HP:0040185 \| Macrothrombocytopenia \| 2 HP:0001902 \| Giant platelets \| 1 HP:0000471 \| Gastrointestinal angiodysplasia \| 1 HP:0002584 \| Intestinal hemorrhage \| 1 HP:0002239 \| Gastrointestinal hemorrhage \| 1 HP:0003002 \| Breast carcinoma \| 1

Disease ID	159
Disease	bernard-soulier syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:4) C0743554 \| recurrent epistaxis C0524910 \| chronic hepatitis c C0267370 \| angiodysplasia C0002965 \| unstable angina
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0085411 \| angiodysplasia \| 2

Manually Genotype(Total Text Mining 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
rs28933377	9886312	2815	GP9	umls:C0005129	UNIPROT	A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV.	0.503503279	1998	GP9	3	129061906	T	C
rs28933378	NA	2815	GP9	umls:C0005129	CLINVAR	NA	0.503503279	NA	GP9	3	129061809	T	C
rs28933378	11167791	2815	GP9	umls:C0005129	UNIPROT	Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome.	0.503503279	2001	GP9	3	129061809	T	C
rs3796130	11758225	2815	GP9	umls:C0005129	UNIPROT	[A novel point mutation in the transmembrane domain of platelet glycoprotein IX gene identified in a Bernard-Soulier syndrome patient].	0.503503279	2001	GP9	3	129062205	G	A
rs5030764	8481514	2815	GP9	umls:C0005129	UNIPROT	Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome.	0.503503279	1993	GP9	3	129061921	A	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
(Waiting for update.)

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

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