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	bernard-soulier syndrome

Disease ID	298
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:4) C0085411 \| angiodysplasia \| 2 C0006142 \| breast cancer \| 1 C0023470 \| myeloid leukemia \| 1 C0023467 \| acute myeloid leukemia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 2815 \| GP9 \| CLINVAR;CTD_human;ORPHANET;UNIPROT;UniProtKB-KW 2812 \| GP1BB \| CTD_human;ORPHANET;UNIPROT;UniProtKB-KW 2811 \| GP1BA \| CTD_human;ORPHANET;UNIPROT;UniProtKB-KW
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 2811 \| GP1BA \| CIPHER;CTD_human 2812 \| GP1BB \| CIPHER;CTD_human 2815 \| GP9 \| CIPHER;CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:32) 204 \| AK2 \| 1.942 \| DISEASES 22852 \| ANKRD26 \| 2.846 \| DISEASES 196527 \| ANO6 \| 1.225 \| DISEASES 79969 \| ATAT1 \| 2.187 \| DISEASES 25825 \| BACE2 \| 1.368 \| DISEASES 2027 \| ENO3 \| 1.527 \| DISEASES 2160 \| F11 \| 1.932 \| DISEASES 2149 \| F2R \| 2.649 \| DISEASES 2152 \| F3 \| 2.264 \| DISEASES 2155 \| F7 \| 3.024 \| DISEASES 2157 \| F8 \| 3.418 \| DISEASES 2316 \| FLNA \| 2.326 \| DISEASES 2623 \| GATA1 \| 2.189 \| DISEASES 8328 \| GFI1B \| 1.866 \| DISEASES 2811 \| GP1BA \| 7.207 \| DISEASES 2812 \| GP1BB \| 7.525 \| DISEASES 2877 \| GPX2 \| 1.23 \| DISEASES 3113 \| HLA-DPA1 \| 2.643 \| DISEASES 60495 \| HPSE2 \| 2.142 \| DISEASES 50618 \| ITSN2 \| 1.553 \| DISEASES 3980 \| LIG3 \| 1.77 \| DISEASES 4352 \| MPL \| 1.867 \| DISEASES 23218 \| NBEAL2 \| 5.115 \| DISEASES 54820 \| NDE1 \| 1.687 \| DISEASES 5336 \| PLCG2 \| 1.078 \| DISEASES 9588 \| PRDX6 \| 1.138 \| DISEASES 5900 \| RALGDS \| 2.061 \| DISEASES 5906 \| RAP1A \| 1.187 \| DISEASES 10250 \| SRRM1 \| 1.826 \| DISEASES 6915 \| TBXA2R \| 1.521 \| DISEASES 26276 \| VPS33B \| 1.941 \| DISEASES 23038 \| WDTC1 \| 4.007 \| DISEASES
Locus	Symbol \| Locus(Total Locus:3) GP1BB \| 22q11.21 GP1BA \| 17p13.2 GP9 \| 3q21.3

Disease ID	298
Disease	bernard-soulier syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:8) HP:0040185 \| Macrothrombocytopenia \| 1 HP:0003002 \| Breast carcinoma \| 1 HP:0012324 \| Myeloid leukemia \| 1 HP:0002584 \| Intestinal hemorrhage \| 1 HP:0001902 \| Giant platelets \| 1 HP:0000471 \| Gastrointestinal angiodysplasia \| 1 HP:0002239 \| Gastrointestinal hemorrhage \| 1 HP:0004808 \| Acute myelogenous leukemia \| 1

Disease ID	298
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.)

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
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)
(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	298
Disease	bernard-soulier syndrome
Case	(Waiting for update.)

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