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

BDPLT18 MCID: BLD126 MIFTS: 39	Bleeding Disorder, Platelet-Type, 18 (BDPLT18) Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases, Smell/Taste diseases
Genes Variations Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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 ⁷⁰

Platelet-Type Bleeding Disorder 18 ¹² ²⁹ ⁶ ¹⁵

Bdplt18 ⁵⁷ ¹² ⁷²

Bleeding Disorder Due to Calcium- and Dag-Regulated Guanine Exchange Factor-1 Deficiency ¹² ⁵⁸

Bleeding Disorder Due to Caldag-Gefi Deficiency ¹² ⁵⁸

Bleeding Disorder, Platelet-Type 18 ⁷²

Bleeding Disorder, Platelet Type 18 ³⁹

Characteristics:

Orphanet epidemiological data:

⁵⁸

bleeding disorder due to caldag-gefi deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal recessive

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

HPO:

³¹

bleeding disorder, platelet-type, 18:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset

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: ³² ³³

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 ¹² DOID:0111051

OMIM® ⁵⁷ 615888

OMIM Phenotypic Series ⁵⁷ PS231200

MeSH ⁴⁴ D001791 D006470

ICD10 ³² D69.1

ICD10 via Orphanet ³³ D69.1

Orphanet ⁵⁸ ORPHA420566

MedGen ⁴¹ C4014584 CN189800

SNOMED-CT via HPO ⁶⁸ 12441001 249366005 258211005

UMLS ⁷⁰ C4014584

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Summaries for Bleeding Disorder, Platelet-Type, 18

Disease Ontology : ¹² 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.

MalaCards based summary : Bleeding Disorder, Platelet-Type, 18, also known as platelet-type bleeding disorder 18, is related to inhalation anthrax and glanzmann thrombasthenia 1. An important gene associated with Bleeding Disorder, Platelet-Type, 18 is RASGRP2 (RAS Guanyl Releasing Protein 2), and among its related pathways/superpathways are Signaling by GPCR and Innate Immune System. Related phenotypes are epistaxis and prolonged bleeding time

UniProtKB/Swiss-Prot : ⁷² Bleeding disorder, platelet-type 18: 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:

#	Related Disease	Score	Top Affiliating Genes
1	inhalation anthrax	9.8	RAPGEF4 RAPGEF3
2	glanzmann thrombasthenia 1	9.8	VWF RASGRP2 RAP1A FERMT3
3	african tick-bite fever	9.6	VWF SELE
4	leukocyte adhesion deficiency, type iii	9.6	RASGRP2 RASGRP1 RAPGEF3 RAP1A FERMT3
5	blood coagulation disease	9.5	VWF P2RY12 CD38
6	leukocyte adhesion deficiency, type i	9.4	SELE RASGRP2 RASGRP1 RAP1A FERMT3
7	combined immunodeficiency	9.2	SELE RASGRP2 RASGRP1 FERMT3 CD38

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:

³¹

#	Description	HPO Source Accession
1	epistaxis ³¹	HP:0000421
2	prolonged bleeding time ³¹	HP:0003010
3	impaired platelet aggregation ³¹	HP:0003540

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

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 20-May-2021)

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

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased POU5F1-GFP protein expression	GR00184-A-1	9.23	P2RY12 RAP1GAP RHOA RRAS VWF
2	Decreased POU5F1-GFP protein expression	GR00184-A-4	9.23	RHOA RRAS VWF

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

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system	MP:0005397	10.06	CD38 FERMT3 P2RY12 RAP1A RAPGEF2 RAPGEF3
2	cardiovascular system	MP:0005385	10.02	FERMT3 RAP1A RAPGEF2 RAPGEF3 RAPGEF4 RASA3
3	cellular	MP:0005384	9.96	CD38 LRPAP1 RAP1A RAPGEF2 RAPGEF3 RASA3
4	homeostasis/metabolism	MP:0005376	9.83	CD38 FERMT3 LRPAP1 P2RY12 RAP1GAP RAPGEF3
5	immune system	MP:0005387	9.5	CD38 FERMT3 RAP1A RAPGEF2 RAPGEF3 RAPGEF4

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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 ²⁹	RASGRP2

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Anatomical Context for Bleeding Disorder, Platelet-Type, 18

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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 ⁶	Canault M...Tregouet DA	24958846	2014
2	Whole-genome sequencing of patients with rare diseases in a national health system. ⁶	Turro E...Ouwehand WH	32581362	2020
3	RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology. ⁶¹	Canault M...Alessi MC	32041177	2020
4	RASGRP2 gene variations associated with platelet dysfunction and bleeding. ⁶¹	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):

(show all 18)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	RASGRP2	RAS Guanyl Releasing Protein 2	Protein Coding	1750.06	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷² Genetic Tests ²⁹ Unconfirmed association ⁵⁷ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	24958846
2	FERMT3	FERM Domain Containing Kindlin 3	Protein Coding	6.31	DISEASES inferred ¹⁵
3	RASGRP4	RAS Guanyl Releasing Protein 4	Protein Coding	5.81	DISEASES inferred ¹⁵
4	RASA3	RAS P21 Protein Activator 3	Protein Coding	5.65	DISEASES inferred ¹⁵
5	RAPGEF2	Rap Guanine Nucleotide Exchange Factor 2	Protein Coding	5.43	DISEASES inferred ¹⁵
6	P2RY12	Purinergic Receptor P2Y12	Protein Coding	5.19	DISEASES inferred ¹⁵
7	RASGRP3	RAS Guanyl Releasing Protein 3	Protein Coding	5.18	DISEASES inferred ¹⁵
8	RAP1GAP	RAP1 GTPase Activating Protein	Protein Coding	5.09	DISEASES inferred ¹⁵
9	LRPAP1	LDL Receptor Related Protein Associated Protein 1	Protein Coding	4.72	DISEASES inferred ¹⁵
10	RAP1A	RAP1A, Member Of RAS Oncogene Family	Protein Coding	4.72	DISEASES inferred ¹⁵
11	RASGRP1	RAS Guanyl Releasing Protein 1	Protein Coding	4.69	DISEASES inferred ¹⁵
12	RRAS	RAS Related	Protein Coding	4.67	DISEASES inferred ¹⁵
13	VWF	Von Willebrand Factor	Protein Coding	4.5	DISEASES inferred ¹⁵
14	RAPGEF4	Rap Guanine Nucleotide Exchange Factor 4	Protein Coding	4.4	DISEASES inferred ¹⁵
15	RAPGEF3	Rap Guanine Nucleotide Exchange Factor 3	Protein Coding	4.36	DISEASES inferred ¹⁵
16	CD38	CD38 Molecule	Protein Coding	3.36	DISEASES inferred ¹⁵
17	SELE	Selectin E	Protein Coding	3.33	DISEASES inferred ¹⁵
18	RHOA	Ras Homolog Family Member A	Protein Coding	3.23	DISEASES inferred ¹⁵

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Variations for Bleeding Disorder, Platelet-Type, 18

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

⁶

#	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.1480dup (p.Arg494fs)	Duplication	Likely pathogenic	417937	rs1555122100	GRCh37: 11:64497598-64497599 GRCh38: 11:64730126-64730127
3	RASGRP2	NM_001098671.2(RASGRP2):c.1490del (p.Phe497fs)	Deletion	Likely pathogenic	627002	rs752492512	GRCh37: 11:64497589-64497589 GRCh38: 11:64730117-64730117
4	RASGRP2	NM_001098671.2(RASGRP2):c.1479dup (p.Arg494fs)	Duplication	Likely pathogenic	812732	rs774996406	GRCh37: 11:64497599-64497600 GRCh38: 11:64730127-64730128
5	RASGRP2	NM_001098671.2(RASGRP2):c.1033G>C (p.Ala345Pro)	SNV	Likely pathogenic	812733	rs200434813	GRCh37: 11:64504287-64504287 GRCh38: 11:64736815-64736815
6	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

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

⁷²

#	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 31)

#	Super pathways	Score	Top Affiliating Genes
1	Signaling by GPCR ⁶⁵ Show member pathways GPCR downstream signaling ⁶⁵ Signal Transduction ⁶⁵	14.05	VWF RHOA RASGRP4 RASGRP3 RASGRP2 RASGRP1
2	Innate Immune System ⁶⁵ Show member pathways Immune System ⁶⁵ Neutrophil degranulation ⁶⁵	13.93	VWF RHOA RASGRP4 RASGRP3 RASGRP2 RASGRP1
3	Developmental Biology ⁶⁵ Show member pathways Axon guidance ⁶⁵	13.39	VWF RRAS RHOA RASGRP4 RASGRP3 RASGRP1
4	Class I MHC mediated antigen processing and presentation ⁶⁵ Show member pathways Adaptive Immune System ⁶⁵ Antigen processing- Ubiquitination and Proteasome degradation ⁶⁵	13.33	RASGRP3 RASGRP2 RASGRP1 RAPGEF4 RAPGEF3 RAP1GAP
5	Cytokine Signaling in Immune system ⁶⁵ Show member pathways Signaling by Interleukins ⁶⁵	13.24	VWF RASGRP4 RASGRP3 RASGRP1 RASA3 RAPGEF2
6	Response to elevated platelet cytosolic Ca2+ ⁶⁵ Show member pathways Disinhibition of SNARE formation ⁶⁵ Hemostasis ⁶⁵ Platelet activation, signaling and aggregation ⁶⁵ Platelet degranulation ⁶⁵	13.18	VWF SELE RHOA RASGRP2 RASGRP1 RAPGEF4
7	Pathways in cancer ³⁶	12.72	RHOA RASGRP4 RASGRP3 RASGRP2 RASGRP1
8	MAPK signaling pathway ³⁶ ¹	12.67	RRAS RASGRP4 RASGRP3 RASGRP2 RASGRP1 RAPGEF2
9	G-protein signaling G-Protein alpha-i signaling cascades ²³ Show member pathways Development Beta-adrenergic receptors regulation of ERK ²³ G-protein signaling G-Protein alpha-s signaling cascades ²³ G-protein signaling G-Protein beta/gamma signaling cascades ²³ Hedgehog Signaling in Mammals ⁶³ Relaxin Pathway ⁶³	12.66	RASGRP1 RAPGEF4 RAPGEF3 RAPGEF2 RAP1GAP RAP1A
10	G-AlphaQ Signaling ⁶³ Show member pathways G-AlphaI Signaling ⁶³ Thrombin Signaling ⁶³	12.54	RRAS RHOA RAP1GAP RAP1A
11	Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways ⁶⁴ Show member pathways Blood-Brain Barrier and Immune Cell Transmigration: CCL2/MCP-1 Signaling Pathways ⁶⁴ Blood-Brain Barrier and Immune Cell Transmigration: ICAM-1/CD54 Signaling Pathways ⁶⁴ Blood-Brain Barrier and Immune Cell Transmigration: VEGF Signaling Pathways ⁶⁴ Leukocyte transendothelial migration ³⁶	12.53	RHOA RAPGEF4 RAPGEF3 RAP1A
12	Cytoskeletal Signaling ⁴	12.46	RRAS RHOA RASGRP3 RAPGEF4 RAPGEF3 RAP1A
13	ADP signalling through P2Y purinoceptor 12 ⁶⁵ Show member pathways Adrenaline,noradrenaline inhibits insulin secretion ⁶⁵ Beta-agonist/Beta-blocker Pathway, Pharmacodynamics ⁶⁰ Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding ⁶⁵ G alpha (z) signalling events ⁶⁵ G-protein activation ⁶⁵ Signal transduction cAMP signaling ²³	12.42	RAPGEF4 RAPGEF3 RAP1A P2RY12
14	Aquaporin-mediated transport ⁶⁵ Show member pathways Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation ²³ Glucagon signaling in metabolic regulation ⁶⁵ Glucagon-like Peptide-1 (GLP1) regulates insulin secretion ⁶⁵ Passive transport by Aquaporins ⁶⁵ Transport of glycerol from adipocytes to the liver by Aquaporins ⁶⁵ Vasopressin regulates renal water homeostasis via Aquaporins ⁶⁵	12.32	RHOA RAPGEF4 RAPGEF3 RAP1A
15	Phospholipase D signaling pathway ³⁶ Show member pathways Choline metabolism in cancer ³⁶	12.28	RRAS RHOA RAPGEF4 RAPGEF3
16	cAMP signaling pathway ³⁶	12.27	RRAS RHOA RAPGEF4 RAPGEF3 RAP1A
17	Ras signaling pathway ³⁶ Show member pathways Rap1 signaling pathway ³⁶	12.05	RRAS RHOA RASGRP4 RASGRP3 RASGRP2 RASGRP1
18	Oncogenic MAPK signaling ⁶⁵ Show member pathways Signaling by BRAF and RAF fusions ⁶⁵	11.95	VWF RASA3 RAP1A
19	Ca, cAMP and Lipid Signaling ⁴	11.91	RAPGEF4 RAPGEF3 CD38
20	Development A2B receptor- action via G-protein alpha s ²³ Show member pathways Development A2A receptor signaling ²³	11.9	RAPGEF3 RAPGEF2 RAP1A
21	Platelet activation ³⁶	11.89	VWF RHOA RASGRP2 RASGRP1 RAP1A P2RY12
22	TCR signaling in naive CD4+ T cells ¹ Show member pathways TCR signaling in naive CD8+ T cells ¹	11.83	RASGRP2 RASGRP1 RAP1A
23	S-1P Stimulated Signaling ⁶³	11.81	RHOA RASGRP2 RASGRP1
24	Integrin alphaIIb beta3 signaling ⁶⁵ Show member pathways GRB2-SOS provides linkage to MAPK signaling for Integrins ⁶⁵ p130Cas linkage to MAPK signaling for integrins ⁶⁵ Platelet Aggregation (Plug Formation) ⁶⁵	11.79	VWF RASGRP2 RASGRP1 RAPGEF4 RAPGEF3 RAP1A
25	G-protein signaling_RhoA regulation pathway ²³	11.68	RRAS RHOA RASGRP2 RASGRP1 RAP1GAP RAP1A
26	Semaphorin Signaling ⁶³	11.48	RHOA RASGRP3 RASGRP1 RAP1A
27	G-protein signaling M-RAS regulation pathway ²³ Show member pathways G-protein signaling TC21 regulation pathway ²³ Negative feedback regulation of MAPK pathway ⁶⁵	11.47	RASGRP3 RASGRP2 RASGRP1 RAP1A
28	G-protein signaling_Rap1A regulation pathway ²³	11.26	RASGRP3 RASGRP2 RASA3 RAPGEF4 RAPGEF3 RAPGEF2
29	Bisphosphonate Pathway, Pharmacodynamics ⁶⁰ Show member pathways RalA downstream regulated genes ¹	11.21	RRAS RHOA RAP1A
30	Rap1 signalling ⁶⁵	10.84	RASGRP2 RASGRP1 RAPGEF4 RAPGEF3 RAP1GAP RAP1A
31	RNAi Pathway ⁶³	10.24	RASGRP4 RASGRP3 RASGRP1 RASA3 RAPGEF2

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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	membrane	GO:0016020	9.83	SELE RRAS RHOA RASGRP4 RASGRP2 RASGRP1
2	plasma membrane	GO:0005886	9.5	SELE RRAS RHOA RASGRP4 RASGRP3 RASGRP2
3	guanyl-nucleotide exchange factor complex	GO:0032045	9.16	RASGRP3 RAP1A

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

(show all 18)

#	Name	GO ID	Score	Top Affiliating Genes
1	signal transduction	GO:0007165	10	RRAS RASGRP2 RASGRP1 RASA3 RAPGEF3 RAPGEF2
2	MAPK cascade	GO:0000165	9.88	RASGRP4 RASGRP3 RASGRP1 RASA3 RAPGEF2
3	regulation of catalytic activity	GO:0050790	9.8	RASGRP4 RASGRP2 RASGRP1 RAPGEF4 RAPGEF3 RAP1GAP
4	intracellular signal transduction	GO:0035556	9.76	RASGRP4 RASGRP3 RASGRP2 RASGRP1 RASA3 RAPGEF4
5	regulation of GTPase activity	GO:0043087	9.73	RASGRP3 RASA3 RAP1GAP
6	Ras protein signal transduction	GO:0007265	9.73	RRAS RASGRP3 RASGRP2 RASGRP1
7	regulation of insulin secretion	GO:0050796	9.72	RAPGEF4 RAPGEF3 RAP1A
8	cellular response to cAMP	GO:0071320	9.7	RAPGEF3 RAPGEF2 RAP1A
9	activation of phospholipase C activity	GO:0007202	9.69	SELE RASGRP4 P2RY12
10	cAMP-mediated signaling	GO:0019933	9.67	RAPGEF4 RAPGEF3 RAPGEF2
11	establishment of endothelial barrier	GO:0061028	9.63	RAPGEF3 RAPGEF2 RAP1A
12	microvillus assembly	GO:0030033	9.58	RAPGEF2 RAP1A
13	positive regulation of vasculogenesis	GO:2001214	9.58	RRAS RAPGEF2 RAP1A
14	nerve growth factor signaling pathway	GO:0038180	9.57	RAPGEF2 RAP1A
15	positive regulation of GTPase activity	GO:0043547	9.56	RASGRP3 RASGRP2 RASGRP1 RASA3 RAPGEF3 RAPGEF2
16	regulation of cell junction assembly	GO:1901888	9.54	RAPGEF2 RAP1A
17	Rap protein signal transduction	GO:0032486	9.54	RAPGEF3 RAPGEF2 RAP1A
18	small GTPase mediated signal transduction	GO:0007264	9.28	RHOA RASGRP4 RASGRP3 RASGRP2 RASGRP1 RAPGEF4

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

#	Name	GO ID	Score	Top Affiliating Genes
1	calcium ion binding	GO:0005509	9.83	RASGRP4 RASGRP3 RASGRP2 RASGRP1 RAPGEF2
2	GTPase activity	GO:0003924	9.71	RRAS RHOA RAP1GAP RAP1A
3	small GTPase binding	GO:0031267	9.67	RASGRP3 RAPGEF4 RAP1GAP RAP1A
4	GTPase activator activity	GO:0005096	9.62	RASGRP3 RASA3 RAPGEF2 RAP1GAP
5	GDP binding	GO:0019003	9.43	RRAS RHOA RAP1A
6	diacylglycerol binding	GO:0019992	9.35	RASGRP4 RASGRP3 RASGRP2 RASGRP1 RAPGEF2
7	cAMP binding	GO:0030552	9.33	RAPGEF4 RAPGEF3 RAPGEF2
8	guanyl-nucleotide exchange factor activity	GO:0005085	9.28	RASGRP4 RASGRP3 RASGRP2 RASGRP1 RAPGEF4 RAPGEF3

Sources

Sources for Bleeding Disorder, Platelet-Type, 18

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Bleeding Disorder, Platelet-Type, 18 (BDPLT18)

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

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

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

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®:

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

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

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