Bleeding Disorder, Platelet-Type, 18 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Bleeding Disorder, Platelet-Type, 18

MalaCards integrated aliases for Bleeding Disorder, Platelet-Type, 18:

Name: Bleeding Disorder, Platelet-Type, 18 ⁵⁷ ⁷³ ⁷¹

Platelet-Type Bleeding Disorder 18 ¹¹ ²⁸ ⁵ ¹⁴

Bdplt18 ⁵⁷ ¹¹ ⁷³

Bleeding Disorder Due to Calcium- and Dag-Regulated Guanine Exchange Factor-1 Deficiency ¹¹ ⁵⁸

Bleeding Disorder Due to Caldag-Gefi Deficiency ¹¹ ⁵⁸

Bleeding Disorder, Platelet Type 18 ³⁸

Characteristics:

Inheritance:

Bleeding Disorder, Platelet-Type, 18: Autosomal recessive ⁵⁷

Bleeding Disorder Due to Caldag-Gefi Deficiency: Autosomal recessive ⁵⁸

Prevelance:

Bleeding Disorder Due to Caldag-Gefi Deficiency: <1/1000000 (Worldwide) ⁵⁸

Age Of Onset:

Bleeding Disorder Due to Caldag-Gefi Deficiency: Infancy ⁵⁸

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
onset in infancy
one family has been reported (last curated july 2014)

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Bone diseases Immune diseases Smell/Taste diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Coagulation defects, purpura and other haemorrhagic conditions

Purpura and other haemorrhagic conditions

Qualitative platelet defects

Orphanet: ⁵⁸

Rare haematological diseases

External Ids:

Disease Ontology ¹¹ DOID:0111051

OMIM® ⁵⁷ 615888

OMIM Phenotypic Series ⁵⁷ PS231200

MeSH ⁴³ D001791 D006470

ICD10 ³¹ D69.1

ICD10 via Orphanet ³² D69.1

Orphanet ⁵⁸ ORPHA420566

MedGen ⁴⁰ C4014584 CN189800

SNOMED-CT via HPO ⁶⁹ 12441001 249366005

UMLS ⁷¹ C4014584

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Summaries for Bleeding Disorder, Platelet-Type, 18

Orphanet: ⁵⁸ Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.

MalaCards based summary: Bleeding Disorder, Platelet-Type, 18, also known as platelet-type bleeding disorder 18, is related to leukocyte adhesion deficiency, type i and leukocyte adhesion deficiency, type iii. An important gene associated with Bleeding Disorder, Platelet-Type, 18 is RASGRP2 (RAS Guanyl Releasing Protein 2), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. Affiliated tissues include bone marrow, bone and blood and bone marrow, and related phenotypes are epistaxis and prolonged bleeding time

Disease Ontology: ¹¹ A blood platelet disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has material basis in homozygous mutation in the RASGRP2 gene on chromosome 11q13.

UniProtKB/Swiss-Prot: ⁷³ A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia.

More information from OMIM: 615888 PS231200

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Related Diseases for Bleeding Disorder, Platelet-Type, 18

Diseases in the Bleeding Disorder, Platelet-Type, 11 family:

Bleeding Disorder, Platelet-Type, 16	Bleeding Disorder, Platelet-Type, 17
Bleeding Disorder, Platelet-Type, 12	Bleeding Disorder, Platelet-Type, 8
Bleeding Disorder, Platelet-Type, 13	Bleeding Disorder, Platelet-Type, 14
Bleeding Disorder, Platelet-Type, 9	Bleeding Disorder, Platelet-Type, 15
Bleeding Disorder, Platelet-Type, 18	Bleeding Disorder, Platelet-Type, 19
Bleeding Disorder, Platelet-Type, 20	Bleeding Disorder, Platelet-Type, 21
Bleeding Disorder, Platelet-Type, 22	Bleeding Disorder, Platelet-Type, 24

Diseases related to Bleeding Disorder, Platelet-Type, 18 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)

#	Related Disease	Score	Top Affiliating Genes
1	leukocyte adhesion deficiency, type i	10.1	RASGRP2 FERMT3
2	leukocyte adhesion deficiency, type iii	9.9	RASGRP2 RASGRP1 FERMT3
3	fetal and neonatal alloimmune thrombocytopenia	9.9	ITGB3 ITGA2B
4	bleeding disorder, platelet-type, 16	9.9	ITGB3 ITGA2B
5	autosomal dominant macrothrombocytopenia	9.9	ITGB3 ITGA2B
6	malignant gastric germ cell tumor	9.9	ITGB3 ITGA2B
7	heparin-induced thrombocytopenia	9.9	ITGB3 ITGA2B
8	gastric teratoma	9.9	ITGB3 ITGA2B
9	primary thrombocytopenia	9.9	ITGB3 ITGA2B
10	myeloproliferative syndrome, transient	9.9	ITGB3 ITGA2B
11	coronary thrombosis	9.8	ITGB3 ITGA2B
12	thrombocytopenia due to platelet alloimmunization	9.8	ITGB3 ITGA2B
13	myelitis	9.8	ITGB3 ITGA2B
14	gray platelet syndrome	9.8	NBEAL2 ITGA2B
15	thrombocytopenic purpura, autoimmune	9.8	ITGB3 ITGA2B
16	myh-9 related disease	9.8	SLFN14 NBEAL2
17	purpura	9.8	ITGB3 ITGA2B
18	stormorken syndrome	9.8	SLFN14 NBEAL2
19	thrombasthenia	9.8	RASGRP2 ITGB3 ITGA2B
20	blood coagulation disease	9.7	ITGB3 ITGA2B
21	acute megakaryocytic leukemia	9.7	ITGB3 ITGA2B
22	acquired thrombocytopenia	9.7	NBEAL2 ITGB3 ITGA2B
23	blood platelet disease	9.6	NBEAL2 ITGB3 ITGA2B
24	combined immunodeficiency	9.6	RASGRP2 RASGRP1 FERMT3
25	amegakaryocytic thrombocytopenia, congenital	9.5	SLFN14 NBEAL2 ITGA2B
26	glanzmann thrombasthenia 1	9.3	RASGRP2 NBEAL2 ITGB3 ITGA2B FERMT3
27	bernard-soulier syndrome	9.2	SLFN14 NBEAL2 ITGB3 ITGA2B
28	thrombocytopenia	9.1	SLFN14 RASGRP2 NBEAL2 ITGB3 ITGA2B

Graphical network of the top 20 diseases related to Bleeding Disorder, Platelet-Type, 18:

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Symptoms & Phenotypes for Bleeding Disorder, Platelet-Type, 18

Human phenotypes related to Bleeding Disorder, Platelet-Type, 18:

³⁰

#	Description	HPO Source Accession
1	epistaxis ³⁰	HP:0000421
2	prolonged bleeding time ³⁰	HP:0003010
3	impaired platelet aggregation ³⁰	HP:0003540

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Head And Neck Nose:
epistaxis

Hematology:
mucocutaneous bleeding due to platelet dysfunction
impaired platelet aggregation and spreading

Laboratory Abnormalities:
prolonged bleeding time

Clinical features from OMIM®:

615888 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Bleeding Disorder, Platelet-Type, 18:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	immune system	MP:0005387	9.5	FERMT3 ITGA2B ITGB3 NBEAL2 RASGRP1 RASGRP2
2	hematopoietic system	MP:0005397	9.17	FERMT3 ITGA2B ITGB3 NBEAL2 RASGRP1 RASGRP2

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Drugs & Therapeutics for Bleeding Disorder, Platelet-Type, 18

Search Clinical Trials, NIH Clinical Center for Bleeding Disorder, Platelet-Type, 18

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Genetic Tests for Bleeding Disorder, Platelet-Type, 18

Genetic tests related to Bleeding Disorder, Platelet-Type, 18:

#	Genetic test	Affiliating Genes
1	Platelet-Type Bleeding Disorder 18 ²⁸	RASGRP2

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Anatomical Context for Bleeding Disorder, Platelet-Type, 18

Organs/tissues related to Bleeding Disorder, Platelet-Type, 18:

MalaCards : Bone Marrow, Bone

ODiseA: Blood And Bone Marrow

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Publications for Bleeding Disorder, Platelet-Type, 18

Articles related to Bleeding Disorder, Platelet-Type, 18:

#	Title	Authors	PMID	Year
1	Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding. ⁵⁷ ⁵	Canault M...Tregouet DA	24958846	2014
2	GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis. ⁵	Megy K...Freson K	34355501	2021
3	Whole-genome sequencing of patients with rare diseases in a national health system. ⁵	Turro E...Ouwehand WH	32581362	2020
4	Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders. ⁵	Bastida JM...Gonzalez-Porras JR	28983057	2018
5	Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction. ⁵	Lozano ML...Rivera J	27235135	2016
6	Genetic Confirmation and Identification of Novel Variants for Glanzmann Thrombasthenia and Other Inherited Platelet Function Disorders: A Study by the Korean Pediatric Hematology Oncology Group (KPHOG). ⁶²	Yang EJ...Ki CS	34066320	2021
7	RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology. ⁶²	Canault M...Alessi MC	32041177	2020
8	RASGRP2 gene variations associated with platelet dysfunction and bleeding. ⁶²	Palma-Barqueros V...Rivera J	30849270	2019

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Genes for Bleeding Disorder, Platelet-Type, 18

Genes related to Bleeding Disorder, Platelet-Type, 18 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	RASGRP2	RAS Guanyl Releasing Protein 2	Protein Coding	1741.03	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Unconfirmed association ⁵⁷ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	24958846 27235135 34355501 (more) 28983057 32581362
2	RASGRP1	RAS Guanyl Releasing Protein 1	Protein Coding	5.97	DISEASES inferred ¹⁴
3	FERMT3	FERM Domain Containing Kindlin 3	Protein Coding	5.82	DISEASES inferred ¹⁴
4	RASGRF1	Ras Protein Specific Guanine Nucleotide Releasing Factor 1	Protein Coding	5.26	DISEASES inferred ¹⁴
5	NBEAL2	Neurobeachin Like 2	Protein Coding	5.19	DISEASES inferred ¹⁴
6	ITGA2B	Integrin Subunit Alpha 2b	Protein Coding	5.13	DISEASES inferred ¹⁴
7	SLFN14	Schlafen Family Member 14	Protein Coding	4.91	DISEASES inferred ¹⁴
8	ITGB3	Integrin Subunit Beta 3	Protein Coding	4.86	DISEASES inferred ¹⁴

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Variations for Bleeding Disorder, Platelet-Type, 18

ClinVar genetic disease variations for Bleeding Disorder, Platelet-Type, 18:

⁵ (show all 18)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	RASGRP2	NM_001098671.2(RASGRP2):c.742G>T (p.Gly248Trp)	SNV	Pathogenic	139647	rs587777529	GRCh37: 11:64506903-64506903 GRCh38: 11:64739431-64739431
2	RASGRP2	NM_001098671.2(RASGRP2):c.337C>T (p.Arg113Ter)	SNV	Pathogenic	1677270		GRCh37: 11:64508454-64508454 GRCh38: 11:64740982-64740982
3	RASGRP2	NM_001098671.2(RASGRP2):c.706C>T (p.Gln236Ter)	SNV	Pathogenic	1679094		GRCh37: 11:64506939-64506939 GRCh38: 11:64739467-64739467
4	RASGRP2	NM_001098671.2(RASGRP2):c.1142C>T (p.Ser381Phe)	SNV	Pathogenic	1677271		GRCh37: 11:64503406-64503406 GRCh38: 11:64735934-64735934
5	RASGRP2	NM_001098671.2(RASGRP2):c.887G>A (p.Cys296Tyr)	SNV	Likely Pathogenic	1677269		GRCh37: 11:64504433-64504433 GRCh38: 11:64736961-64736961
6	RASGRP2	NM_001098671.2(RASGRP2):c.1033G>C (p.Ala345Pro)	SNV	Likely Pathogenic	812733	rs200434813	GRCh37: 11:64504287-64504287 GRCh38: 11:64736815-64736815
7	RASGRP2	NM_001098671.2(RASGRP2):c.1479dup (p.Arg494fs)	DUP	Likely Pathogenic	812732	rs774996406	GRCh37: 11:64497599-64497600 GRCh38: 11:64730127-64730128
8	RASGRP2	NM_001098671.2(RASGRP2):c.1490del (p.Phe497fs)	DEL	Likely Pathogenic	627002	rs752492512	GRCh37: 11:64497589-64497589 GRCh38: 11:64730117-64730117
9	RASGRP2	NM_001098671.2(RASGRP2):c.742G>C (p.Gly248Arg)	SNV	Likely Pathogenic	1684408		GRCh37: 11:64506903-64506903 GRCh38: 11:64739431-64739431
10	RASGRP2	NM_001098671.2(RASGRP2):c.914G>A (p.Gly305Asp)	SNV	Likely Pathogenic	627184	rs1592371840	GRCh37: 11:64504406-64504406 GRCh38: 11:64736934-64736934
11	RASGRP2	NM_001098671.2(RASGRP2):c.1480dup (p.Arg494fs)	DUP	Likely Pathogenic	417937	rs1555122100	GRCh37: 11:64497598-64497599 GRCh38: 11:64730126-64730127
12	RASGRP2	NM_001098671.2(RASGRP2):c.542T>C (p.Phe181Ser)	SNV	Conflicting Interpretations Of Pathogenicity	417938	rs1060499609	GRCh37: 11:64507262-64507262 GRCh38: 11:64739790-64739790
13	RASGRP2	NM_001098671.2(RASGRP2):c.1717C>T (p.Arg573Cys)	SNV	Uncertain Significance	1684320		GRCh37: 11:64496389-64496389 GRCh38: 11:64728917-64728917
14	RASGRP2	NM_001098671.2(RASGRP2):c.1096-44T>C	SNV	Benign	1287361		GRCh37: 11:64503496-64503496 GRCh38: 11:64736024-64736024
15	RASGRP2	NM_001098671.2(RASGRP2):c.1174-43T>C	SNV	Benign	1289252		GRCh37: 11:64503179-64503179 GRCh38: 11:64735707-64735707
16	RASGRP2	NM_001098671.2(RASGRP2):c.523-34A>G	SNV	Benign	1231140		GRCh37: 11:64507315-64507315 GRCh38: 11:64739843-64739843
17	RASGRP2	NM_001098671.2(RASGRP2):c.1591+45T>G	SNV	Benign	1248539		GRCh37: 11:64497189-64497189 GRCh38: 11:64729717-64729717
18	RASGRP2	NM_001098671.2(RASGRP2):c.372-45T>G	SNV	Benign	1259868		GRCh37: 11:64507680-64507680 GRCh38: 11:64740208-64740208

UniProtKB/Swiss-Prot genetic disease variations for Bleeding Disorder, Platelet-Type, 18:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	RASGRP2	p.Gly248Trp	VAR_071474	rs587777529
2	RASGRP2	p.Cys296Tyr	VAR_079616
3	RASGRP2	p.Gly305Asp	VAR_079617
4	RASGRP2	p.Ser381Phe	VAR_079618	rs767965347

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Expression for Bleeding Disorder, Platelet-Type, 18

Search GEO for disease gene expression data for Bleeding Disorder, Platelet-Type, 18.

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Pathways for Bleeding Disorder, Platelet-Type, 18

Pathways related to Bleeding Disorder, Platelet-Type, 18 according to GeneCards Suite gene sharing:

(show all 28)

#	Super pathways	Score	Top Affiliating Genes
1	ERK Signaling ⁶⁴ Show member pathways ILK Signaling ⁶⁴ MAPK Signaling ⁶⁴ Molecular Mechanisms of Cancer ⁶⁴ Rho Family GTPases ⁶⁴	13.49	RASGRP2 RASGRP1 RASGRF1 ITGB3 ITGA2B
2	Signal Transduction ⁶⁶	13.44	RASGRP2 RASGRP1 RASGRF1 ITGB3 ITGA2B
3	RAF/MAP kinase cascade ⁶⁶ Show member pathways Diseases of signal transduction by growth factor receptors and second messengers ⁶⁶ MAPK family signaling cascades ⁶⁶ MAPK1/MAPK3 signaling ⁶⁶	13.06	RASGRP1 RASGRF1 ITGB3 ITGA2B
4	Response to elevated platelet cytosolic Ca2+ ⁶⁶ Show member pathways Disinhibition of SNARE formation ⁶⁶ Hemostasis ⁶⁶ Platelet activation, signaling and aggregation ⁶⁶ Platelet degranulation ⁶⁶	12.83	FERMT3 ITGA2B ITGB3 RASGRP1 RASGRP2
5	Development Angiotensin activation of ERK ²² Show member pathways Cell adhesion Integrin inside-out signaling ²² Development ACM2 and ACM4 activation of ERK ²² Development Angiotensin signaling via PYK2 ²² Development EDNRB signaling ²² Development EPO-induced MAPK pathway ²² Development G-Proteins mediated regulation MARK-ERK signaling ²² Signal transduction IP3 signaling ²²	12.54	RASGRP2 ITGB3 ITGA2B
6	MAPK-Erk Pathway ⁶⁷ Show member pathways Actin Dynamics Signaling Pathway ⁶⁷ G Protein-coupled Receptors Signaling ⁶⁷	12.45	RASGRF1 ITGB3 ITGA2B
7	G-protein signaling RAC1 in cellular process ²² Show member pathways CDC42 signaling events ⁶¹ Cytoskeleton remodeling CDC42 in cellular processes ²² RAC1 signaling pathway ⁶¹	12.09	RASGRF1 ITGB3 ITGA2B
8	MAPK signaling pathway ⁷⁴	12.09	RASGRP2 RASGRP1 RASGRF1
9	Focal adhesion ⁷⁴	11.98	RASGRF1 ITGB3 ITGA2B
10	MAPK Signaling: Mitogens ⁶⁵ Show member pathways Akt Signaling Pathway ⁶⁵	11.93	RASGRP1 ITGB3 ITGA2B
11	Ras signaling ⁷⁴	11.92	RASGRP2 RASGRP1 RASGRF1
12	S-1P Stimulated Signaling ⁶⁴	11.56	RASGRP2 RASGRP1 RASGRF1
13	Serotonin HTR1 group and FOS pathway ⁷⁴ Show member pathways Serotonin receptor 2 and ELK-SRF/GATA4 signaling ⁷⁴ Serotonin receptor 4/6/7 and NR3C signaling ⁷⁴	11.4	RASGRP1 RASGRF1
14	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics ⁶⁰	11.31	ITGB3 ITGA2B
15	G-protein signaling_RhoA regulation pathway ²²	11.31	RASGRP2 RASGRP1 ITGB3 ITGA2B
16	Signaling events mediated by PTP1B ⁶¹	11.25	ITGB3 ITGA2B
17	G-protein signaling TC21 regulation pathway ²² Show member pathways G-protein signaling M-RAS regulation pathway ²² Negative feedback regulation of MAPK pathway ⁶⁶ Signaling by MAP2K mutants ⁶⁶	11.2	RASGRP2 RASGRP1 RASGRF1
18	Beta3 integrin cell surface interactions ⁶¹	11.17	ITGB3 ITGA2B
19	G-protein signaling_H-RAS regulation pathway ²²	11.15	RASGRP1 RASGRF1
20	Heparin-induced Thrombocytopenia Pathway, Adverse Drug Reaction ⁶⁰	11.13	ITGB3 ITGA2B
21	Arf6 signaling events ⁶¹	11.05	ITGA2B ITGB3
22	Effects of PIP2 hydrolysis ⁶⁶ Show member pathways Arachidonate production from DAG ⁶⁶	11.04	RASGRP1 RASGRP2
23	Integrin signaling ⁶⁶ Show member pathways GRB2:SOS provides linkage to MAPK signaling for Integrins ⁶⁶ p130Cas linkage to MAPK signaling for integrins ⁶⁶ Platelet Aggregation (Plug Formation) ⁶⁶	10.91	RASGRP2 RASGRP1 ITGB3 ITGA2B
24	Regulation of Ras family activation ⁶¹ Show member pathways Activation of RAS in B cells ⁶⁶	10.84	RASGRP2 RASGRP1 RASGRF1
25	Signal transduction by L1 ⁶⁶	10.82	ITGB3 ITGA2B
26	Ephrin B reverse signaling ⁶¹	10.71	ITGB3 ITGA2B
27	Rap1 signalling ⁶⁶	10.64	RASGRP2 RASGRP1
28	G-protein signaling_K-RAS regulation pathway ²²	10.56	RASGRP2 RASGRP1 RASGRF1

Sources

GO Terms for Bleeding Disorder, Platelet-Type, 18

Cellular components related to Bleeding Disorder, Platelet-Type, 18 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	integrin complex	GO:0008305	9.26	ITGB3 ITGA2B
2	platelet alpha granule membrane	GO:0031092	8.92	ITGB3 ITGA2B

Biological processes related to Bleeding Disorder, Platelet-Type, 18 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of GTPase activity	GO:0043547	9.85	RASGRP2 RASGRP1 RASGRF1
2	platelet aggregation	GO:0070527	9.73	ITGB3 FERMT3
3	cell-matrix adhesion	GO:0007160	9.73	ITGB3 ITGA2B FERMT3
4	cell adhesion mediated by integrin	GO:0033627	9.71	ITGB3 ITGA2B
5	positive regulation of Ras protein signal transduction	GO:0046579	9.62	RASGRP1 RASGRF1
6	integrin-mediated signaling pathway	GO:0007229	9.43	ITGB3 ITGA2B FERMT3
7	small GTPase mediated signal transduction	GO:0007264	9.33	RASGRP2 RASGRP1 RASGRF1
8	Ras protein signal transduction	GO:0007265	9.1	RASGRP2 RASGRP1 RASGRF1

Molecular functions related to Bleeding Disorder, Platelet-Type, 18 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	lipid binding	GO:0008289	9.8	RASGRP2 RASGRP1 FERMT3
2	guanyl-nucleotide exchange factor activity	GO:0005085	9.73	RASGRP2 RASGRP1 RASGRF1
3	extracellular matrix binding	GO:0050840	9.46	ITGB3 ITGA2B
4	integrin binding	GO:0005178	9.43	ITGB3 ITGA2B FERMT3
5	diacylglycerol binding	GO:0019992	8.92	RASGRP2 RASGRP1

Sources

Sources for Bleeding Disorder, Platelet-Type, 18

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

BDPLT18 MCID: BLD126 MIFTS: 41	Bleeding Disorder, Platelet-Type, 18 (BDPLT18) Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases, Smell/Taste diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Bleeding Disorder, Platelet-Type, 18 (BDPLT18)

Aliases & Classifications for Bleeding Disorder, Platelet-Type, 18

MalaCards integrated aliases for Bleeding Disorder, Platelet-Type, 18:

Characteristics:

Inheritance:

Prevelance:

Age Of Onset:

OMIM®:

Classifications:

External Ids:

Summaries for Bleeding Disorder, Platelet-Type, 18

Related Diseases for Bleeding Disorder, Platelet-Type, 18

Diseases in the Bleeding Disorder, Platelet-Type, 11 family:

Diseases related to Bleeding Disorder, Platelet-Type, 18 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Bleeding Disorder, Platelet-Type, 18:

Symptoms & Phenotypes for Bleeding Disorder, Platelet-Type, 18

Human phenotypes related to Bleeding Disorder, Platelet-Type, 18:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Bleeding Disorder, Platelet-Type, 18:

Drugs & Therapeutics for Bleeding Disorder, Platelet-Type, 18

Genetic Tests for Bleeding Disorder, Platelet-Type, 18

Genetic tests related to Bleeding Disorder, Platelet-Type, 18:

Anatomical Context for Bleeding Disorder, Platelet-Type, 18

Organs/tissues related to Bleeding Disorder, Platelet-Type, 18:

Publications for Bleeding Disorder, Platelet-Type, 18

Articles related to Bleeding Disorder, Platelet-Type, 18:

Genes for Bleeding Disorder, Platelet-Type, 18

Genes related to Bleeding Disorder, Platelet-Type, 18 (1 elite genes):

Variations for Bleeding Disorder, Platelet-Type, 18

ClinVar genetic disease variations for Bleeding Disorder, Platelet-Type, 18:

UniProtKB/Swiss-Prot genetic disease variations for Bleeding Disorder, Platelet-Type, 18:

Expression for Bleeding Disorder, Platelet-Type, 18

Pathways for Bleeding Disorder, Platelet-Type, 18

Pathways related to Bleeding Disorder, Platelet-Type, 18 according to GeneCards Suite gene sharing:

GO Terms for Bleeding Disorder, Platelet-Type, 18

Cellular components related to Bleeding Disorder, Platelet-Type, 18 according to GeneCards Suite gene sharing:

Biological processes related to Bleeding Disorder, Platelet-Type, 18 according to GeneCards Suite gene sharing:

Molecular functions related to Bleeding Disorder, Platelet-Type, 18 according to GeneCards Suite gene sharing:

Sources for Bleeding Disorder, Platelet-Type, 18