Phenotype: Abnormal platelet function (HP:0011869)
Associated genes and diseases:
gene_symbol: RUNX1
disease_id: OMIM:601399
disease_name: PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY
gene_symbol: MGAT2
disease_id: ORPHA:79329
disease_name: MGAT2-CDG
CDG syndrome type IIa
CDG-IIa
CDG2A
Carbohydrate deficient glycoprotein syndrome type IIa
Congenital disorder of glycosylation type 2a
Congenital disorder of glycosylation type IIa
N-acetylglucosaminyltransferase 2 deficiency
gene_symbol: VWF
disease_id: OMIM:193400
disease_name: VON WILLEBRAND DISEASE, TYPE 1
gene_symbol: VWF
disease_id: OMIM:277480
disease_name: VON WILLEBRAND DISEASE, TYPE 3
gene_symbol: HPS3
disease_id: OMIM:614072
disease_name: HERMANSKY-PUDLAK SYNDROME 3
gene_symbol: BLOC1S3
disease_id: OMIM:614077
disease_name: HERMANSKY-PUDLAK SYNDROME 8
gene_symbol: PLA2G4A
disease_id: OMIM:618372
disease_name: GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS
gene_symbol: KCNJ1
disease_id: OMIM:241200
disease_name: BARTTER SYNDROME, TYPE 2, ANTENATAL
gene_symbol: FLI1
disease_id: OMIM:617443
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 21
gene_symbol: DTNBP1
disease_id: OMIM:614076
disease_name: HERMANSKY-PUDLAK SYNDROME 7
gene_symbol: TUBB1
disease_id: OMIM:613112
disease_name: MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED
gene_symbol: DIAPH1
disease_id: OMIM:124900
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA
gene_symbol: ABCG8
disease_id: OMIM:210250
disease_name: SITOSTEROLEMIA 1
gene_symbol: IKZF5
disease_id: OMIM:619130
disease_name: THROMBOCYTOPENIA 7
gene_symbol: MYH9
disease_id: OMIM:155100
disease_name: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS
gene_symbol: SH2B3
disease_id: OMIM:187950
disease_name: THROMBOCYTHEMIA 1
gene_symbol: CALR
disease_id: OMIM:187950
disease_name: THROMBOCYTHEMIA 1
gene_symbol: HPS5
disease_id: OMIM:614074
disease_name: HERMANSKY-PUDLAK SYNDROME 5
gene_symbol: HPS6
disease_id: OMIM:614075
disease_name: HERMANSKY-PUDLAK SYNDROME 6
gene_symbol: EPHB2
disease_id: OMIM:618462
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 22
gene_symbol: RASGRP2
disease_id: OMIM:615888
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 18
gene_symbol: P2RY12
disease_id: OMIM:609821
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 8
gene_symbol: TPM4
disease_id: OMIM:620486
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 25
gene_symbol: AP3B1
disease_id: OMIM:608233
disease_name: HERMANSKY-PUDLAK SYNDROME 2
gene_symbol: PLAU
disease_id: OMIM:601709
disease_name: QUEBEC PLATELET DISORDER
gene_symbol: GFI1B
disease_id: OMIM:187900
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 17
gene_symbol: BLOC1S5
disease_id: OMIM:619172
disease_name: HERMANSKY-PUDLAK SYNDROME 11
gene_symbol: CISD2
disease_id: OMIM:604928
disease_name: WOLFRAM SYNDROME 2
gene_symbol: LCP2
disease_id: OMIM:619374
disease_name: IMMUNODEFICIENCY 81
gene_symbol: GP6
disease_id: OMIM:614201
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 11
gene_symbol: NBEAL2
disease_id: OMIM:139090
disease_name: GRAY PLATELET SYNDROME
gene_symbol: LYST
disease_id: ORPHA:167
disease_name: Chédiak-Higashi syndrome
Chédiak-Higashi disease
Chédiak-Higashi-Steinbrink syndrome
gene_symbol: GATA1
disease_id: ORPHA:231393
disease_name: Beta-thalassemia-X-linked thrombocytopenia syndrome
XLTT
gene_symbol: WAS
disease_id: ORPHA:906
disease_name: Wiskott-Aldrich syndrome
Eczema-thrombocytopenia-immunodeficiency syndrome
WAS
gene_symbol: WIPF1
disease_id: ORPHA:906
disease_name: Wiskott-Aldrich syndrome
Eczema-thrombocytopenia-immunodeficiency syndrome
WAS
gene_symbol: RRAS2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: CBL
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: LZTR1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RIT1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RAF1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: MRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: KRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: SPRED2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: NRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: SOS1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: SOS2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: PTPN11
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RASA2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: BRAF
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: SAMD9L
disease_id: ORPHA:2585
disease_name: Ataxia-pancytopenia syndrome
Myelocerebellar disorder
gene_symbol: GNAS
disease_id: ORPHA:79443
disease_name: Pseudohypoparathyroidism type 1A
AHO-PHP syndrome Ia
Albright hereditary osteodystrophy-PHP syndrome Ia
gene_symbol: TBXA2R
disease_id: OMIM:614009
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO
gene_symbol: GP1BA
disease_id: ORPHA:274
disease_name: Bernard-Soulier syndrome
Giant platelet syndrome
Hemorrhagiparous thrombocytic dystrophy
gene_symbol: GP1BB
disease_id: ORPHA:274
disease_name: Bernard-Soulier syndrome
Giant platelet syndrome
Hemorrhagiparous thrombocytic dystrophy
gene_symbol: GP9
disease_id: ORPHA:274
disease_name: Bernard-Soulier syndrome
Giant platelet syndrome
Hemorrhagiparous thrombocytic dystrophy
gene_symbol: THPO
disease_id: OMIM:620478
disease_name: THROMBOCYTOPENIA 9
gene_symbol: BLOC1S6
disease_id: OMIM:614171
disease_name: HERMANSKY-PUDLAK SYNDROME 9
gene_symbol: GUCY1A1
disease_id: ORPHA:401945
disease_name: Moyamoya disease with early-onset achalasia
gene_symbol: VPS33B
disease_id: ORPHA:2697
disease_name: Arthrogryposis-renal dysfunction-cholestasis syndrome
ARC syndrome
gene_symbol: VIPAS39
disease_id: ORPHA:2697
disease_name: Arthrogryposis-renal dysfunction-cholestasis syndrome
ARC syndrome
gene_symbol: ITGA2B
disease_id: OMIM:273800
disease_name: GLANZMANN THROMBASTHENIA 1
gene_symbol: ITGB3
disease_id: OMIM:619267
disease_name: GLANZMANN THROMBASTHENIA 2
gene_symbol: ACTN1
disease_id: OMIM:615193
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 15
gene_symbol: SLC35A1
disease_id: OMIM:603585
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf