Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Rgs18 MGI:1927498

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

regulator of G-protein signaling 18

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Rgs18 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Rgs18 (0 diseases)
Human diseases predicted to be associated with Rgs18 (489 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Rgs18 by phenotypic similarity.

Disease	Matching phenotypes	Source
Athrombia, Essential	Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion	OMIM:209050
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red...	OMIM:619130
Platelet Responsiveness To Adrenaline, Depressed	Impaired epinephrine-induced platelet aggregation	OMIM:173580
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Bleeding Disorder, Platelet-Type, 22	Impaired platelet aggregation	OMIM:618462
Von Willebrand Disease, X-Linked Form	Prolonged bleeding time	OMIM:314560
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Thrombocythemia 1	Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet agg...	OMIM:187950
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Glanzmann Thrombasthenia 2	Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ...	OMIM:619267
Bleeding Disorder, Platelet-Type, 18	Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ...	OMIM:615888
Pseudo-Von Willebrand Disease	Prolonged bleeding time, Intermittent thrombocytopenia	OMIM:177820
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Tatsumi Factor Deficiency	Prolonged bleeding time	OMIM:272650
Bleeding Disorder, Platelet-Type, 11	Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Abnormal platelet count,...	OMIM:614201
Platelet Disorder, Undefined	Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Glanzmann Thrombasthenia 1	Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ...	OMIM:273800
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Von Willebrand Disease	Abnormality of thrombocytes, Abnormal platelet function	ORPHA:903
Glanzmann Thrombasthenia	Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Impaired ADP-induced pla...	ORPHA:849
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Impaired thromboxane A2 agonist-induced platelet aggregation	OMIM:614009
Platelet Glycoprotein Iv Deficiency	Prolonged bleeding time, Giant platelets, Thrombocytopenia	OMIM:608404
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Prolonged bleeding time, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, G...	OMIM:155100
Bleeding Disorder, Platelet-Type, 8	Impaired ADP-induced platelet aggregation	OMIM:609821
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Hermansky-Pudlak Syndrome 9	Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Prolonged bleeding time, Impaired platelet aggregation, Abnormal dense granule content, Thrombocy...	OMIM:601399
Gray Platelet Syndrome	Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha...	OMIM:139090
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Bernard-Soulier Syndrome	Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Giant platelets, Macro...	OMIM:231200
Von Willebrand Disease, Type 3	Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Bleeding Disorder, Platelet-Type, 12	Impaired platelet aggregation	OMIM:605735
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Hermansky-Pudlak Syndrome 3	Impaired platelet aggregation, Abnormal number of dense granules	OMIM:614072
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R...	OMIM:614493
Thrombocytopenia With Beta-Thalassemia, X-Linked	Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Red...	OMIM:314050
Bleeding Disorder, Platelet-Type, 14	Prolonged bleeding time	OMIM:614158
Bleeding Disorder, Platelet-Type, 17	Prolonged bleeding time, Macrothrombocytopenia, Absence of alpha granules, Impaired collagen-indu...	OMIM:187900
Bone Marrow Failure Syndrome 2	Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:615715
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Hermansky-Pudlak Syndrome 7	Prolonged bleeding time, Impaired platelet aggregation	OMIM:614076
Acute Myelomonocytic Leukemia	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	ORPHA:517
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in...	OMIM:153670
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia, Dystonia	OMIM:619302
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a...	OMIM:615285
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia, Dystonia	OMIM:619301
Aicardi-Goutieres Syndrome 3	Dystonia, Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Immunodeficiency 81	Impaired collagen-induced platelet aggregation, Reduced natural killer cell activity, Reduced ant...	OMIM:619374
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Tremor, Splenomegaly, Dystonia, Thrombocytopenia	OMIM:615010
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Fanconi Anemia, Complementation Group G	Anemia, Leukemia, Thrombocytopenia, Neutropenia	OMIM:614082
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Fetal Parvovirus Syndrome	Anemia, Thrombocytopenia	ORPHA:295
Hermansky-Pudlak Syndrome 5	Prolonged bleeding time, Absent platelet dense granules, Impaired ADP-induced platelet aggregatio...	OMIM:614074
Cernunnos-Xlf Deficiency	Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym...	ORPHA:169079
Storage Pool Platelet Disease	Prolonged bleeding time, Decreased mean platelet volume	OMIM:185050
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia	OMIM:229050
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia, Intention tremor	OMIM:610539
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Von Willebrand Disease, Type 1	Prolonged bleeding time, Impaired platelet aggregation	OMIM:193400
Slc35A1-Cdg	Prolonged bleeding time, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia	ORPHA:238459
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Thrombocytopenia, Paris-Trousseau Type	Prolonged bleeding time, Thrombocytopenia	OMIM:188025
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Ataxia-Pancytopenia Syndrome	Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Neutropenia, Hypoplastic anemia, A...	OMIM:159550
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Factor V Deficiency	Prolonged bleeding time, Prolonged prothrombin time	OMIM:227400
Hermansky-Pudlak Syndrome 6	Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules	OMIM:614075
Sitosterolemia 1	Reticulocytosis, Splenomegaly, Giant platelets, Anemia, Stomatocytosis, Episodic hemolytic anemia...	OMIM:210250
Thrombocytopenia 5	Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, Neutropenia,...	OMIM:616216
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Immunodeficiency 46	Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Niemann-Pick Disease, Type B	Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Anemia	OMIM:607616
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Hepatosplenomegaly, Abnormal natural killer cell physiology, Decreased circulating ...	OMIM:613101
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Hemophagocytic Lymphohistiocytosis, Familial, 4	Splenomegaly, Thrombocytopenia, Hemophagocytosis, Neutropenia, Anemia	OMIM:603552
Bone Marrow Failure Syndrome 4	Thrombocytopenia, Decreased circulating antibody level, Leukopenia, Bone marrow hypocellularity, ...	OMIM:618116
Aicardi-Goutieres Syndrome 4	Pancytopenia, Splenomegaly, Hepatosplenomegaly, Dystonia, Thrombocytopenia	OMIM:610333
Nephrotic Syndrome, Type 7	Hemolytic anemia, Thrombocytopenia	OMIM:615008
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Congenital thrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:616738
Wt Limb-Blood Syndrome	Pancytopenia, Hypoplastic anemia, Leukemia, Thrombocytopenia	OMIM:194350
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Neutropenia, Choreoathetosis, Dystonia, Anemia	ORPHA:289916
Systemic Lupus Erythematosus 17	Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Impaired platelet aggregation	OMIM:618372
Hermansky-Pudlak Syndrome 11	Reduced platelet dense granules, Impaired collagen-induced platelet aggregation	OMIM:619172
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno...	OMIM:308240
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Dystonia, Splenomegaly, Thrombocytopenia, Choreoathetosis, Neutropenia, Anemia	ORPHA:79312
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Isovaleric Acidemia	Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:243500
Myh9-Related Disease	Prolonged bleeding time, Increased mean platelet volume, Giant platelets, Neutrophil inclusion bo...	ORPHA:182050
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Abnormal circulating ...	OMIM:226990
3-Methylglutaconic Aciduria Type 4	Thrombocytopenia	ORPHA:67048
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:231095
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased c...	OMIM:613011
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Thrombocytopenia, Choreoathetosis, Leukopenia, Anemia	ORPHA:27
Amed Syndrome, Digenic	Acute myeloid leukemia, Thrombocytopenia, Leukopenia, Bone marrow hypocellularity, Anemia	OMIM:619151
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Idiopathic Aplastic Anemia	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia	ORPHA:88
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt...	OMIM:603909
Hermansky-Pudlak Syndrome 2	Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cell activity, Sp...	OMIM:608233
Osteopetrosis, Autosomal Recessive 8	Anemia, Splenomegaly, Thrombocytopenia	OMIM:615085
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Stuve-Wiedemann Syndrome 2	Thrombocytopenia	OMIM:619751
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia	OMIM:231000
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Head titubation, Vestibular areflexia, Hypochromic microcytic anemia, Dystonia, Thrombocytopenia	ORPHA:3240
Congenital Disorder Of Glycosylation, Type Iik	Thrombocytopenia	OMIM:614727
Immunodeficiency 97 With Autoinflammation	Lymphopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, E...	OMIM:619802
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Leukopenia, Increas...	ORPHA:507
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Reduced natural killer cell activity, Thrombocytopenia, Splenomegaly, Reduced natur...	OMIM:616050
Diffuse Neonatal Hemangiomatosis	Anemia, Thrombocytopenia	ORPHA:2123
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, B...	ORPHA:3226
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level	OMIM:616576
Transaldolase Deficiency	Anemia, Thrombocytopenia, Hepatosplenomegaly	ORPHA:101028
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Congenital Toxoplasmosis	Anemia, Thrombocytopenia	ORPHA:858
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia	OMIM:611490
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi...	ORPHA:331206
Babesiosis	Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia	ORPHA:108
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce...	ORPHA:274
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Anemia	ORPHA:848
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia	OMIM:150550
Isolated Agammaglobulinemia	Abnormal lymphocyte morphology, Abnormality of neutrophils, Anemia, Thrombocytopenia	ORPHA:229717
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Acute lymphoblastic leuke...	ORPHA:158057
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Thiamine-Responsive Megaloblastic Anemia Syndrome	Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Systemic Lupus Erythematosus	Hemolytic anemia, Leukopenia, Thrombocytopenia	OMIM:152700
Atelis Syndrome 1	Anemia, Leukopenia, Thrombocytopenia	OMIM:620184
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Increas...	OMIM:618048
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemi...	ORPHA:824
Specific Granule Deficiency 2	Anemia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia	OMIM:617475
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:613987
Prothrombin Deficiency, Congenital	Prolonged bleeding time, Prolonged prothrombin time	OMIM:613679
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Preeclampsia	Thrombocytopenia	ORPHA:275555
Sea-Blue Histiocytosis	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Increased circulating IgE level, Coo...	OMIM:304790
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia	OMIM:249270
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocellularity, Hemoph...	OMIM:301078
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ...	ORPHA:101096
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy...	ORPHA:90045
Rhabdoid Tumor	Anemia, Thrombocytopenia	ORPHA:69077
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:612783
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Tremor, Athetosis, Thrombocytopenia, Dystonia	OMIM:617710
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma...	ORPHA:100026
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula...	OMIM:308230
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Bone marrow hypocellularity, Thrombocytopenia, Hepatosplenomegaly	ORPHA:210136
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia	OMIM:615597
Hermansky-Pudlak Syndrome 8	Impaired platelet aggregation	OMIM:614077
Propionic Acidemia	Pancytopenia, Thrombocytopenia, Neutropenia, Dystonia, Anemia	OMIM:606054
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ...	OMIM:617021
Relapsing Fever	Neutrophilia, Leukocytosis, Anemia, Leukopenia, Prolonged prothrombin time, Thrombocytopenia	ORPHA:91547
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Leukocytosis, Hepatosplenomegaly, Anemia, Increased proportion of CD...	ORPHA:98850
Fetal Gaucher Disease	Splenomegaly, Abnormality of the spleen, Pancytopenia, Thrombocytopenia	ORPHA:85212
Congenital Rubella Syndrome	Anemia, Splenomegaly, Thrombocytopenia	ORPHA:290
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ...	ORPHA:86839
Tularemia	Anemia, Leukocytosis, Increased circulating antibody level, Thrombocytopenia	ORPHA:3392
Wolfram Syndrome 1	Tremor, Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia	OMIM:222300
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Intermediate Osteopetrosis	Anemia, Thrombocytopenia, Hepatosplenomegaly	ORPHA:210110
Thrombocytopenia 1	Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,...	OMIM:313900
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia	OMIM:605432
Stiff-Person Syndrome	Exaggerated startle response, Anemia, Opisthotonus	OMIM:184850
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Tremor, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:274150
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Splenomegaly, Neutropenia, Anemia	ORPHA:398124
Mgat2-Cdg	Decreased circulating IgG level, Impaired platelet aggregation, Decreased circulating antibody level	ORPHA:79329
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Griscelli Syndrome	Abnormality of neutrophils, Splenomegaly, Decreased circulating antibody level, Leukopenia, Bone ...	ORPHA:381
Portal Hypertension, Noncirrhotic, 2	Splenomegaly, Thrombocytopenia	OMIM:619463
3-Methylglutaconic Aciduria, Type Viib	Dystonia, Tremor, Opisthotonus, Choreoathetosis, Leukopenia, Prolonged prothrombin time, Neutrope...	OMIM:616271
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:612924
Letterer-Siwe Disease	Anemia, Neutropenia, Thrombocytopenia, Hepatosplenomegaly	OMIM:246400
Acquired Purpura Fulminans	Prolonged prothrombin time, Thrombocytopenia	ORPHA:49566
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:612926
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Hepatosplenomegaly, Anemia	OMIM:259710
Boutonneuse Fever	Increased circulating IgG level, Leukopenia, Increased circulating IgM level, Thrombocytopenia	ORPHA:83313
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Immunodeficiency 22	Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased proportion of CD4-p...	OMIM:615758
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:614520
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia	OMIM:619644
Cog4-Cdg	Thrombocytopenia, Hepatosplenomegaly	ORPHA:263501
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Lymphopenia, Thrombocytopenia	OMIM:620365
Hepatoportal Sclerosis	Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Prolonged prothrombin time, Anemia	ORPHA:64743
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:612925
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Tremor, Splenomegaly, Vacuolated lymphocytes, Neutro...	ORPHA:167
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Normochromic anemia, Thrombocytopenia, Neutropenia	OMIM:614857
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Tremor, Splenomegaly, Neutropenia, Anemia, Leukopenia,...	OMIM:214500
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Anemia, Leukopenia, Pancytopenia, Thrombocytopenia	OMIM:613845
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Chr...	ORPHA:906
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia	OMIM:230800
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Autoerythrocyte Sensitization Syndrome	Abnormal erythrocyte morphology, Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocy...	ORPHA:324636
X-Linked Agammaglobulinemia	Agammaglobulinemia, Anemia, Thrombocytopenia, Neutropenia	ORPHA:47
Drug-Induced Lupus Erythematosus	Anemia, Thrombocytopenia	ORPHA:231111
Macrophage Activation Syndrome	Splenomegaly, Thrombocytopenia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count...	ORPHA:158061
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Neutropenia, Thrombocytop...	OMIM:613989
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Thrombocytopenia, Hypoplastic spleen, Anemia	OMIM:185070
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Postural tremor, Normochromic anemia, Intention tremor, Thrombocytopenia, Action tremor	OMIM:254900
Felty Syndrome	Thrombocytopenia, Splenomegaly, Bone marrow hypocellularity, Neutropenia, Abnormal lymphocyte mor...	ORPHA:47612
Cyclic Neutropenia	Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia	ORPHA:2686
Methylmalonic Aciduria, Cbla Type	Pancytopenia, Tremor, Thrombocytopenia, Neutropenia, Anemia	OMIM:251100
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polysaccharide anti...	OMIM:614576
Prolidase Deficiency	Anemia, Splenomegaly, Increased circulating antibody level, Thrombocytopenia	OMIM:170100
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Leukopenia, Neutropenia, Anemia	ORPHA:520
Hemophagocytic Lymphohistiocytosis, Familial, 2	Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Hepatosplenomegaly, Anemia, Leu...	OMIM:603553
Congenital Disorder Of Glycosylation, Type Ih	Anemia, Thrombocytopenia	OMIM:608104
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:251000
Transaldolase Deficiency	Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Anemia	OMIM:606003
Congenital Enterovirus Infection	Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Leukopenia, Neutropenia, Anemia	ORPHA:292
Diffuse Alveolar Hemorrhage	Anemia, Leukocytosis, Thrombocytopenia	ORPHA:90060
Zika Virus Disease	Increased circulating IgM level, Thrombocytopenia	ORPHA:448237
Hoyeraal-Hreidarsson Syndrome	Anemia, Abnormal leukocyte morphology, Bone marrow hypocellularity, Thrombocytopenia	ORPHA:3322
Immunodeficiency 40	T lymphocytopenia, Reduced antigen-specific T cell proliferation, Thrombocytopenia	OMIM:616433
Pseudo-Torch Syndrome 3	Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Dengue Fever	Leukopenia, Thrombocytopenia	ORPHA:99828
Methylmalonic Aciduria, Cblb Type	Anemia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:251110
Pseudo-Torch Syndrome 1	Splenomegaly, Thrombocytopenia, Dystonia	OMIM:251290
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	ORPHA:79242
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
Familial Hemophagocytic Lymphohistiocytosis	Reduced natural killer cell activity, Thrombocytopenia, Splenomegaly, Decreased circulating antib...	ORPHA:540
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Blue Rubber Bleb Nevus	Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Hemophagocytic Lymphohistiocytosis, Familial, 1	Thrombocytopenia, Splenomegaly, Leukopenia, Prolonged prothrombin time, Hemophagocytosis, Anemia	OMIM:267700
Schimke Immunoosseous Dysplasia	Pancytopenia, Abnormal immunoglobulin level, Abnormal T cell morphology, Decreased circulating an...	OMIM:242900
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Decreased proportion of memory B cells, Hepatosplenomega...	ORPHA:79124
Smith-Kingsmore Syndrome	Thrombocytopenia, Decreased circulating IgA level	OMIM:616638
Kasabach-Merritt Syndrome	Reticulocytosis, Anemia, Leukopenia, Prolonged prothrombin time, Microangiopathic hemolytic anemi...	ORPHA:2330
Snakebite Envenomation	Thrombocytopenia	ORPHA:449285
Osteopetrosis, Autosomal Recessive 1	Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia	OMIM:259700
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Prolonged bleeding time, Autoimmune h...	OMIM:301000
Cholesteryl Ester Storage Disease	Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Leukop...	OMIM:278000
Gaucher Disease Type 1	Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Increased circulating an...	ORPHA:77259
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Thrombocytopenia	ORPHA:83601
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:613990
Lig4 Syndrome	Acute lymphoblastic leukemia, Pancytopenia, Thrombocytopenia	OMIM:606593
Alg8-Cdg	Anemia, Thrombocytopenia	ORPHA:79325
Pediatric-Onset Graves Disease	Tremor, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia	ORPHA:525731
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Sandhoff Disease, Infantile Form	Exaggerated startle response, Hepatosplenomegaly	ORPHA:309155
Wilson Disease	Anemia, Splenomegaly, Thrombocytopenia	ORPHA:905
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:235400
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:224230
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Hemolytic anemia, Thrombocytopenia	ORPHA:169090
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Good Syndrome	Abnormal leukocyte morphology, Anemia, Thrombocytopenia, Decreased circulating antibody level	ORPHA:169105
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Anemia, Decreased proportion of naive CD8 T cells, Abnormal proportion ...	ORPHA:1830
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Reticulocytopenia, Anemia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, Neutropeni...	ORPHA:508542
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Bone marrow hypocellulari...	OMIM:127550
Fanconi Anemia, Complementation Group E	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Leukemia, Anemia	OMIM:600901
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia	OMIM:611126
Aicardi-Goutieres Syndrome 1	Splenomegaly, Thrombocytopenia, Dystonia	OMIM:225750
Ebola Hemorrhagic Fever	Leukopenia, Lymphopenia, Increased circulating antibody level, Thrombocytopenia	ORPHA:319218
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Mevalonic Aciduria	Normocytic hypoplastic anemia, Fluctuating splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia...	OMIM:610377
Proteasome-Associated Autoinflammatory Syndrome 3	Splenomegaly, Thrombocytopenia, Increased circulating antibody level, Lymphopenia, Anemia	OMIM:617591
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Anemia	OMIM:277380
Vexas Syndrome	Macrocytic anemia, Thrombocytopenia	OMIM:301054
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Anemia, Increased circulating IgM level, Leukopenia, Bone marrow hypocellularity, N...	OMIM:617303
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Thrombocytopenia, Splenomegaly, Abnormal T cell subset distribution, Hemophagocytos...	ORPHA:158048
Mogs-Cdg	Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating total IgM, Dyston...	ORPHA:79330
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	ORPHA:309246
Necrotizing Enterocolitis	Leukocytosis, Thrombocytopenia, Neutropenia	ORPHA:391673
Wars2-Related Combined Oxidative Phosphorylation Defect	Tremor, Athetosis, Thrombocytopenia, Limb dystonia	ORPHA:572798
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Fanconi Anemia, Complementation Group A	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Leukemia, Anemia	OMIM:227650
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Persistence of hemoglobin F, Neutropenia,...	OMIM:260400
Acyl-Coa Dehydrogenase 9 Deficiency	Prolonged prothrombin time, Thrombocytopenia	ORPHA:99901
Shwachman-Diamond Syndrome 2	Normocytic anemia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia	OMIM:617941
Combined Oxidative Phosphorylation Deficiency 14	Anemia, Thrombocytopenia	OMIM:614946
Pseudo-Torch Syndrome 2	Thrombocytopenia	OMIM:617397
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Prolonged prothrombin time...	ORPHA:244242
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Thrombocytopenia	OMIM:301056
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Normochromic anemia, Thrombocytopenia	OMIM:618775
Mirage Syndrome	Thrombocytopenia, Leukopenia, Hypoplastic spleen, Lymphopenia, Anemia	OMIM:617053
Congenital Disorder Of Glycosylation, Type Iig	Anemia, Giant platelets, Thrombocytopenia	OMIM:611209
Fanconi Anemia, Complementation Group C	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Leuk...	OMIM:227645
Pediatric Systemic Lupus Erythematosus	Leukopenia, Lymphopenia, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:93552
Avian Influenza	Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:454836
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Thrombocytopenia, Limb dystonia	ORPHA:457351
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Tremor, Thrombocytopenia, Bone marrow hypocellularity, Dystonia, Anemia	OMIM:612199
Gaucher Disease, Perinatal Lethal	Splenomegaly, Thrombocytopenia, Opisthotonus, Hepatosplenomegaly, Anemia	OMIM:608013
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Splenomegaly, Decreased circulating antibody level, Decrease...	OMIM:300972
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Intermittent thrombocytopenia, Erythroid hypoplasia, Splenomegaly, Hepatosplenomegaly, Anemia, Le...	OMIM:612541
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Recon Progeroid Syndrome	Anemia, Thrombocytopenia	OMIM:620370
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr...	OMIM:259720
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Catastrophic Antiphospholipid Syndrome	Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:464343
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Truncal titubation	OMIM:618056
Noonan Syndrome 4	Thrombocytopenia	OMIM:610733
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Hypoplastic anemia, R...	OMIM:557000
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	OMIM:253270
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Thrombocytopenia	OMIM:208085
Fanconi Anemia, Complementation Group F	Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:603467
Overlap Myositis	Leukopenia, Thrombocytopenia	ORPHA:206572
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Tremor, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:277400
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Sepsis In Premature Infants	Splenomegaly, Leukocytosis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:90051
Diamond-Blackfan Anemia 21	Anemia, Erythroid hypoplasia, Thrombocytopenia	OMIM:620072
Adams-Oliver Syndrome	Leukopenia, Thrombocytopenia	ORPHA:974
Alg12-Cdg	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn...	ORPHA:79324
Lujo Hemorrhagic Fever	Resting tremor, Leukocytosis, Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319213
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Increased mean platelet volume	OMIM:616737
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Bartter Syndrome, Type 2, Antenatal	Impaired platelet aggregation	OMIM:241200
Combined Oxidative Phosphorylation Deficiency 55	Anemia, Thrombocytopenia	OMIM:619743
Sandhoff Disease	Exaggerated startle response, Hepatosplenomegaly	OMIM:268800
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Polycythemia, Leukocytosis, Bone marrow hypocellularity, Abnormality of n...	ORPHA:2968
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Gaucher Disease, Type Ii	Anemia, Splenomegaly, Thrombocytopenia	OMIM:230900
Kaposiform Lymphangiomatosis	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Abnormal spleen morphology, Anemia	ORPHA:464329
Lathosterolosis	Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology	ORPHA:46059
Farber Disease	Anemia, Thrombocytopenia, Hepatosplenomegaly	ORPHA:333
Noonan Syndrome	Abnormal platelet function	ORPHA:648
Wilson Disease	Hemolytic anemia, Dystonia, Tremor, Thrombocytopenia, Splenomegaly, Hand tremor, Limb dystonia, A...	OMIM:277900
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Thrombocytopenia	OMIM:612394
Pseudohypoparathyroidism Type 1A	Abnormal platelet function	ORPHA:79443
21Q22.11Q22.12 Microdeletion Syndrome	Anemia, Thrombocytopenia	ORPHA:261323
Fanconi Anemia, Complementation Group D2	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Leuk...	OMIM:227646
Tick-Borne Encephalitis	Tremor, Leukocytosis, Increased circulating IgG level, Leukopenia, Increased circulating IgM leve...	ORPHA:297
Neuroleptic Malignant Syndrome	Oculogyric crisis, Tremor, Leukocytosis, Thrombocytosis, Thrombocytopenia	ORPHA:94093
Tay-Sachs Disease	Exaggerated startle response, Tremor, Hepatosplenomegaly, Dystonia, Laryngeal dystonia	ORPHA:845
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Splenomegaly, Thrombocytopenia	OMIM:251880
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Castleman Disease	Anemia, Decreased mean corpuscular volume, Thrombocytopenia	ORPHA:160
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:90038
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Anemia, Increased circulating IgM level, Leukopenia, Bone marrow hypocellular...	ORPHA:505248
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Dystonia	ORPHA:438216
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Thrombocytopenia, Increased circulating antibody level, Anemia	ORPHA:77261
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Dystonia, Hepatosplenomegaly	ORPHA:79255
Bacterial Toxic-Shock Syndrome	Increased circulating metamyelocyte count, Increased circulating myelocyte count, Thrombocytopenia	ORPHA:36234
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:391487
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response	OMIM:617864
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Increased circulating antibody le...	OMIM:615846
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Splenomegaly, Postural tremor, Thrombocytopenia	OMIM:301072
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Anemia, Decreased circulating total IgM,...	OMIM:620005
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Rift Valley Fever	Anemia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytopenia	ORPHA:319251
Q Fever	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Increased circulating antibody level, Anemia	ORPHA:781
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Shigellosis	Splenic abscess, Leukocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:810
Atelis Syndrome 2	Anemia, Thrombocytopenia	OMIM:620185
Tangier Disease	Anemia, Thrombocytopenia, Hepatosplenomegaly	ORPHA:31150
Lysinuric Protein Intolerance	Thrombocytopenia, Splenomegaly, Leukopenia, Hemophagocytosis, Anemia	OMIM:222700
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia, Myeloprolifer...	ORPHA:3260
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619005
Stevens-Johnson Syndrome	Anemia, Abnormality of neutrophils, Thrombocytopenia	ORPHA:36426
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc...	OMIM:251260
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Toxic Epidermal Necrolysis	Anemia, Thrombocytopenia, Neutropenia	ORPHA:537
Dubowitz Syndrome	Acute lymphoblastic leukemia, Abnormality of neutrophils, Anemia, Thrombocytopenia	ORPHA:235
Dyskeratosis Congenita	Abnormality of neutrophils, Splenomegaly, Thrombocytopenia, Bone marrow hypocellularity, Anemia	ORPHA:1775
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr...	ORPHA:79277
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Thrombocytopenia, Leukopenia, Elliptocytosis, Bone marrow hypocellularity, Anemia	ORPHA:2785
Insulin-Resistance Syndrome Type B	Increased circulating IgG level, Leukopenia, Thrombocytopenia, Increased circulating IgA level	ORPHA:2298
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Dystonia	ORPHA:521426
Porphyria, Congenital Erythropoietic	Splenomegaly, Hemolytic anemia, Thrombocytopenia	OMIM:263700
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Anemia, Leuko...	ORPHA:447
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Neutropenia, Thrombocytopenia, Megaloblastic anemia	ORPHA:79282
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response	OMIM:615574
Pearson Syndrome	Reticulocytosis, Pancytopenia, Thrombocytopenia, Splenomegaly, Bone marrow hypocellularity, Neutr...	ORPHA:699
Caroli Syndrome	Hypersplenism, Leukopenia, Leukocytosis, Thrombocytopenia	ORPHA:480520
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia	ORPHA:647
Brucellosis	Hypersplenism, Splenomegaly, Leukocytosis, Anemia, Increased circulating IgG level, Leukopenia, I...	ORPHA:1304
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Decreased circulating antibody ...	OMIM:274000
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response	OMIM:253800
Gaucher Disease	Pancytopenia, Tremor, Splenomegaly, Thrombocytopenia, Increased circulating antibody level, Anemia	ORPHA:355
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response	OMIM:617527
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Thrombocytopenia	ORPHA:163979
Deeah Syndrome	Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619004
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Increased mean platelet volume	ORPHA:487796
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thrombocytopenia	ORPHA:464321
Cornelia De Lange Syndrome 1	Thrombocytopenia	OMIM:122470
Marburg Hemorrhagic Fever	Reticulocytosis, Lymphopenia, Neutrophilia in presence of infection, Leukopenia, Prolonged prothr...	ORPHA:99826
Jacobsen Syndrome	Thrombocytopenia	OMIM:147791
Primary Sjögren Syndrome	Normocytic anemia, Decreased circulating antibody level, Leukopenia, Normochromic anemia, Increas...	ORPHA:289390
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Leukopenia, Bone marrow hypocellularity, ...	OMIM:305000
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia	ORPHA:536
Lysinuric Protein Intolerance	Hepatosplenomegaly, Decreased circulating antibody level, Leukopenia, Anemia, Increased circulati...	ORPHA:470
Kikuchi-Fujimoto Disease	Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocytosis, Neutropenia, Anemia	ORPHA:50918
Ogden Syndrome	Iron deficiency anemia, Torticollis, Polycythemia, Thrombocytopenia	OMIM:300855
Hemorrhagic Fever-Renal Syndrome	Anemia, Leukocytosis, Thrombocytopenia	ORPHA:340
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Anemia	ORPHA:2072
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Splenomegaly, Thrombocytopenia, Prolonged prothrombin time, Anemia	OMIM:619525
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Tremor, Hepatosplenomegaly, Chronic lymphatic leukemia, Dys...	ORPHA:51
Jacobsen Syndrome	Bone marrow hypocellularity, Thrombocytopenia	ORPHA:2308
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Leukocytosis, Thrombocytopenia	ORPHA:544482
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgM level, Thrombocytopenia, Increased circulating IgG4 level, Increased ci...	ORPHA:79078
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Leukopenia, Anemia, Thrombocytopenia	ORPHA:84
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Splenomegaly, Leukocytosis, Increased circulating IgG level, Leukopen...	ORPHA:99827
Yellow Fever	Neutrophilia, Leukocytosis, Increased circulating IgM level, Prolonged prothrombin time, Thromboc...	ORPHA:99829
22Q11.2 Deletion Syndrome	Abnormality of thrombocytes, Impaired T cell function, Splenomegaly, Hypoplasia of the thymus, Th...	ORPHA:567
Proteasome-Associated Autoinflammatory Syndrome 1	Microcytic anemia, Increased circulating IgA level, Splenomegaly, Increased circulating IgG level...	OMIM:256040
Roberts Syndrome	Thrombocytopenia	ORPHA:3103
Oculocerebrorenal Syndrome Of Lowe	Anemia, Thrombocytopenia	ORPHA:534
Chronic Visceral Acid Sphingomyelinase Deficiency	Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Acute promyelocytic leukemia, Thrombocy...	ORPHA:77293
Hardikar Syndrome	Hypersplenism, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly	OMIM:301068
Autosomal Recessive Polycystic Kidney Disease	Hypersplenism, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly	ORPHA:731
Acute Liver Failure	Prolonged prothrombin time, Thrombocytopenia	ORPHA:90062
Sarcoidosis	Hemolytic anemia, Eosinophilia, Thrombocytopenia, Increased T cell count, Leukopenia, Anemia	ORPHA:797
Exercise-Induced Malignant Hyperthermia	Thrombocytopenia	ORPHA:466650
Osteogenesis Imperfecta	Thrombocytopenia	ORPHA:666
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Liver Disease, Severe Congenital	Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocytosis, Anemia	OMIM:619991
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Exaggerated startle response, Anemia, Dystonia	ORPHA:438213
Digeorge Syndrome	Impaired T cell function, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus, Anemia	OMIM:188400
Leptospirosis	Thrombocytopenia	ORPHA:509
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia	OMIM:163950
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Rgs18

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rgs18.

No publications found that use IMPC mice or data for Rgs18.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Rgs18^{tm45211(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Rgs18^{tm45211(L1L2_gt2)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Rgs18^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us