Human Phenotype Ontology 
Grandparent Node:
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Neoplasm (HP:0002664)help
Parent Node:
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Abnormality of blood and blood-forming tissues (HP:0001871)help
Parent Node:
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Neoplasm by anatomical site (HP:0011793)help
..Starting node
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Hematological neoplasm (HP:0004377)help
Term ID: 4377
Name: Hematological neoplasm
Synonym: Blood tumor; Blood tumour; Haematological neoplasm
Definition: Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue).
Comments:
Reference: HP:0004377
Genes and Diseases:
 
       Child Nodes:
........expandLeukemia (HP:0001909) help
................... HP:0002488 Acute leukemia
................... HP:0005526 Lymphoid leukemia
................... HP:0005547 Myeloproliferative disorder
................... HP:0005558 Chronic leukemia
................... HP:0012324 Myeloid leukemia
........expandLymphoma (HP:0002665) help
................... HP:0011953 Pulmonary lymphoma
................... HP:0012189 Hodgkin lymphoma
................... HP:0012539 Non-Hodgkin lymphoma
................... HP:0045038 Gastric lymphoma
........expandMyelodysplasia (HP:0002863) help
................... HP:0012148 Multiple lineage myelodysplasia
................... HP:0012149 Bilineage myelodysplasia
................... HP:0012150 Single lineage myelodysplasia
........expandLymphoproliferative disorder (HP:0005523) help
................... HP:0005508 Monoclonal immunoglobulin M proteinemia
........expandMultiple myeloma (HP:0006775) help
........expandMalignant eosinophil proliferation (HP:0006782) help
........expandPlasmacytoma (HP:0011857) help

 Sister Nodes: 
..expandMalignant mesothelioma (HP:0100001) help
..expandNeoplasm of fatty tissue (HP:0200013) help
..expandNeoplasm of head and neck (HP:0012288) help
..expandNeoplasm of striated muscle (HP:0009728) help
..expandNeoplasm of the breast (HP:0100013) help
..expandNeoplasm of the ear (HP:0012780) help
..expandNeoplasm of the endocrine system (HP:0100568) help
..expandNeoplasm of the eye (HP:0100012) help
..expandNeoplasm of the gastrointestinal tract (HP:0007378) help
..expandNeoplasm of the genitourinary tract (HP:0007379) help
..expandNeoplasm of the heart (HP:0100544) help
..expandNeoplasm of the lip (HP:0100604) help
..expandNeoplasm of the nail (HP:0100826) help
..expandNeoplasm of the nervous system (HP:0004375) help
..expandNeoplasm of the oral cavity (HP:0100649) help
..expandNeoplasm of the pancreas (HP:0002894) help
..expandNeoplasm of the respiratory system (HP:0100606) help
..expandNeoplasm of the skeletal system (HP:0010622) help
..expandNeoplasm of the skin (HP:0008069) help
..expandNeoplasm of the thymus (HP:0100521) help
..expandRetroperitoneal chemodectomas (HP:0006729) help
..expandSoft tissue neoplasm (HP:0031459) help
..expandVascular neoplasm (HP:0100742) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004377HP:0004377Hematological neoplasm0AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 17
HP:0004377HP:0004377Hematological neoplasm0ABL1 CL E G H2576ORPHA:521Chronic myeloid leukemia51
HP:0004377HP:0004377Hematological neoplasm0ABL1 CL E G H2576OMIM:608232Leukemia, chronic myeloid51
HP:0004377HP:0004377Hematological neoplasm0ADA CL E G H100186ORPHA:39041Omenn syndrome75
HP:0004377HP:0004377Hematological neoplasm0ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency75
HP:0004377HP:0004377Hematological neoplasm0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemia22
HP:0004377HP:0004377Hematological neoplasm0ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0004377HP:0004377Hematological neoplasm0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndrome116
HP:0004377HP:0004377Hematological neoplasm0ADH5 CL E G H128253OMIM:619151AMED SYNDROME, DIGENIC; AMEDS
HP:0004377HP:0004377Hematological neoplasm0ALAD CL E G H210395ORPHA:100924Porphyria due to ALA dehydratase deficiency62
HP:0004377HP:0004377Hematological neoplasm0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 12
HP:0004377HP:0004377Hematological neoplasm0APC CL E G H324583ORPHA:99818Turcot syndrome with polyposis3179
HP:0004377HP:0004377Hematological neoplasm0APC2 CL E G H1029724036ORPHA:821Sotos syndrome1
HP:0004377HP:0004377Hematological neoplasm0ARHGAP26 CL E G H2309217073OMIM:607785Juvenile myelomonocytic leukemia12
HP:0004377HP:0004377Hematological neoplasm0ASXL1 CL E G H17102318318ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional145
HP:0004377HP:0004377Hematological neoplasm0ASXL1 CL E G H17102318318OMIM:614286Myelodysplastic syndrome145
HP:0004377HP:0004377Hematological neoplasm0ASXL1 CL E G H17102318318ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040281 - Very frequent145
HP:0004377HP:0004377Hematological neoplasm0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA3267
HP:0004377HP:0004377Hematological neoplasm0ATM CL E G H472795ORPHA:52416Mantle cell lymphoma3267
HP:0004377HP:0004377Hematological neoplasm0ATRX CL E G H546886OMIM:300448ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS169
HP:0004377HP:0004377Hematological neoplasm0ATRX CL E G H546886ORPHA:231401Alpha-thalassemia-myelodysplastic syndrome169
HP:0004377HP:0004377Hematological neoplasm0BAX CL E G H581959OMIM:613065Leukemia, acute lymphocytic, susceptibility to, 14
HP:0004377HP:0004377Hematological neoplasm0BCL10 CL E G H8915989OMIM:137245Gastric lymphoma, primary18
HP:0004377HP:0004377Hematological neoplasm0BCL10 CL E G H8915989OMIM:605027Lymphoma, non-hodgkin, familial18
HP:0004377HP:0004377Hematological neoplasm0BCL10 CL E G H8915989ORPHA:52417MALT lymphoma18
HP:0004377HP:0004377Hematological neoplasm0BCL2 CL E G H596990ORPHA:545Follicular lymphoma1
HP:0004377HP:0004377Hematological neoplasm0BCL6 CL E G H6041001ORPHA:545Follicular lymphoma1
HP:0004377HP:0004377Hematological neoplasm0BCR CL E G H6131014ORPHA:521Chronic myeloid leukemia5
HP:0004377HP:0004377Hematological neoplasm0BCR CL E G H6131014OMIM:613065Leukemia, acute lymphocytic, susceptibility to, 15
HP:0004377HP:0004377Hematological neoplasm0BCR CL E G H6131014OMIM:608232Leukemia, chronic myeloid5
HP:0004377HP:0004377Hematological neoplasm0BIRC3 CL E G H330591ORPHA:52417MALT lymphoma
HP:0004377HP:0004377Hematological neoplasm0BLM CL E G H6411058OMIM:210900Bloom syndrome314
HP:0004377HP:0004377Hematological neoplasm0BLM CL E G H6411058ORPHA:125Bloom syndrome314
HP:0004377HP:0004377Hematological neoplasm0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0004377HP:0004377Hematological neoplasm0BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentigines276
HP:0004377HP:0004377Hematological neoplasm0BRCA1 CL E G H6721100ORPHA:84Fanconi anemia5769
HP:0004377HP:0004377Hematological neoplasm0BRCA2 CL E G H6751101ORPHA:84Fanconi anemia7642
HP:0004377HP:0004377Hematological neoplasm0BRCA2 CL E G H6751101OMIM:605724Fanconi anemia, complementation group D17642
HP:0004377HP:0004377Hematological neoplasm0BRD4 CL E G H2347613575ORPHA:443167NUT midline carcinoma
HP:0004377HP:0004377Hematological neoplasm0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemia1086
HP:0004377HP:0004377Hematological neoplasm0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndrome5
HP:0004377HP:0004377Hematological neoplasm0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndrome76
HP:0004377HP:0004377Hematological neoplasm0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 176
HP:0004377HP:0004377Hematological neoplasm0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndrome
HP:0004377HP:0004377Hematological neoplasm0CALR CL E G H8111455ORPHA:3318Essential thrombocythemia1
HP:0004377HP:0004377Hematological neoplasm0CALR CL E G H8111455OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included1
HP:0004377HP:0004377Hematological neoplasm0CALR CL E G H8111455ORPHA:824Primary myelofibrosisHP:0040284 - Very rare1
HP:0004377HP:0004377Hematological neoplasm0CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndrome87
HP:0004377HP:0004377Hematological neoplasm0CASP10 CL E G H8431500OMIM:605027Lymphoma, non-hodgkin, familial87
HP:0004377HP:0004377Hematological neoplasm0CBL CL E G H8671541ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional317
HP:0004377HP:0004377Hematological neoplasm0CBL CL E G H8671541OMIM:607785Juvenile myelomonocytic leukemia317
HP:0004377HP:0004377Hematological neoplasm0CBL CL E G H8671541OMIM:613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia317
HP:0004377HP:0004377Hematological neoplasm0CCND1 CL E G H5951582ORPHA:52416Mantle cell lymphoma1
HP:0004377HP:0004377Hematological neoplasm0CCND1 CL E G H5951582OMIM:254500Multiple myeloma1
HP:0004377HP:0004377Hematological neoplasm0CD19 CL E G H9301633ORPHA:1572Common variable immunodeficiency38
HP:0004377HP:0004377Hematological neoplasm0CD19 CL E G H9301633OMIM:240500Immunodeficiency, common variable, 238
HP:0004377HP:0004377Hematological neoplasm0CD27 CL E G H93911922OMIM:615122Lymphoproliferative syndrome 24
HP:0004377HP:0004377Hematological neoplasm0CD28 CL E G H9401653ORPHA:2584Classic mycosis fungoides
HP:0004377HP:0004377Hematological neoplasm0CD28 CL E G H9401653ORPHA:3162Sézary syndrome
HP:0004377HP:0004377Hematological neoplasm0CD70 CL E G H97011937OMIM:618261LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0004377HP:0004377Hematological neoplasm0CD81 CL E G H9751701ORPHA:1572Common variable immunodeficiency1
HP:0004377HP:0004377Hematological neoplasm0CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndrome289
HP:0004377HP:0004377Hematological neoplasm0CEBPA CL E G H10501833OMIM:601626Leukemia, acute myeloid65
HP:0004377HP:0004377Hematological neoplasm0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndrome17
HP:0004377HP:0004377Hematological neoplasm0CHD7 CL E G H5563620626ORPHA:39041Omenn syndrome515
HP:0004377HP:0004377Hematological neoplasm0CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndrome833
HP:0004377HP:0004377Hematological neoplasm0CHIC2 CL E G H265111935OMIM:601626Leukemia, acute myeloid
HP:0004377HP:0004377Hematological neoplasm0CLPB CL E G H8157030664ORPHA:486Autosomal dominant severe congenital neutropenia38
HP:0004377HP:0004377Hematological neoplasm0COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 12
HP:0004377HP:0004377Hematological neoplasm0CR2 CL E G H13802336ORPHA:1572Common variable immunodeficiency10
HP:0004377HP:0004377Hematological neoplasm0CR2 CL E G H13802336OMIM:240500Immunodeficiency, common variable, 210
HP:0004377HP:0004377Hematological neoplasm0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0004377HP:0004377Hematological neoplasm0CSF3R CL E G H14412439OMIM:162830Neutrophilia, hereditary34
HP:0004377HP:0004377Hematological neoplasm0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenita160
HP:0004377HP:0004377Hematological neoplasm0CTLA4 CL E G H14932505ORPHA:2584Classic mycosis fungoides10
HP:0004377HP:0004377Hematological neoplasm0CTLA4 CL E G H14932505ORPHA:3162Sézary syndrome10
HP:0004377HP:0004377Hematological neoplasm0CTPS1 CL E G H15032519OMIM:615897IMMUNODEFICIENCY 24; IMD242
HP:0004377HP:0004377Hematological neoplasm0DCLRE1C CL E G H6442117642ORPHA:39041Omenn syndrome94
HP:0004377HP:0004377Hematological neoplasm0DDX41 CL E G H5142818674OMIM:616871Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to23
HP:0004377HP:0004377Hematological neoplasm0DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0004377HP:0004377Hematological neoplasm0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenita65
HP:0004377HP:0004377Hematological neoplasm0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked65
HP:0004377HP:0004377Hematological neoplasm0DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 35
HP:0004377HP:0004377Hematological neoplasm0DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndrome5
HP:0004377HP:0004377Hematological neoplasm0DNAJC21 CL E G H13421827030OMIM:260400Shwachman-Diamond syndrome 15
HP:0004377HP:0004377Hematological neoplasm0DNASE1L3 CL E G H17762959ORPHA:36412Hypocomplementemic urticarial vasculitis3
HP:0004377HP:0004377Hematological neoplasm0DNMT3A CL E G H17882978OMIM:601626Leukemia, acute myeloid44
HP:0004377HP:0004377Hematological neoplasm0DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndrome44
HP:0004377HP:0004377Hematological neoplasm0DUT CL E G H18543078OMIM:620044
HP:0004377HP:0004377Hematological neoplasm0DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndrome7
HP:0004377HP:0004377Hematological neoplasm0EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndrome1
HP:0004377HP:0004377Hematological neoplasm0ELANE CL E G H19913309ORPHA:486Autosomal dominant severe congenital neutropenia79
HP:0004377HP:0004377Hematological neoplasm0ELANE CL E G H19913309OMIM:202700Neutropenia, severe congenital, 1, autosomal dominant79
HP:0004377HP:0004377Hematological neoplasm0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0004377HP:0004377Hematological neoplasm0ERBB3 CL E G H20653431OMIM:133180Erythroleukemia, familial, susceptibility to12
HP:0004377HP:0004377Hematological neoplasm0ERCC4 CL E G H20723436ORPHA:84Fanconi anemia158
HP:0004377HP:0004377Hematological neoplasm0ETV6 CL E G H21203495OMIM:601626Leukemia, acute myeloid13
HP:0004377HP:0004377Hematological neoplasm0EVC CL E G H21213497ORPHA:289Ellis Van Creveld syndrome209
HP:0004377HP:0004377Hematological neoplasm0EVC2 CL E G H13288419747ORPHA:289Ellis Van Creveld syndrome137
HP:0004377HP:0004377Hematological neoplasm0F13A1 CL E G H21623531ORPHA:331Congenital factor XIII deficiency60
HP:0004377HP:0004377Hematological neoplasm0F13B CL E G H21653534ORPHA:331Congenital factor XIII deficiency32
HP:0004377HP:0004377Hematological neoplasm0FANCA CL E G H21753582OMIM:227650Fanconi anemia340
HP:0004377HP:0004377Hematological neoplasm0FANCA CL E G H21753582ORPHA:84Fanconi anemia340
HP:0004377HP:0004377Hematological neoplasm0FANCB CL E G H21873583ORPHA:84Fanconi anemia58
HP:0004377HP:0004377Hematological neoplasm0FANCC CL E G H21763584ORPHA:84Fanconi anemia410
HP:0004377HP:0004377Hematological neoplasm0FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C410
HP:0004377HP:0004377Hematological neoplasm0FANCD2 CL E G H21773585ORPHA:84Fanconi anemia147
HP:0004377HP:0004377Hematological neoplasm0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0004377HP:0004377Hematological neoplasm0FANCE CL E G H21783586ORPHA:84Fanconi anemia73
HP:0004377HP:0004377Hematological neoplasm0FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E73
HP:0004377HP:0004377Hematological neoplasm0FANCF CL E G H21883587ORPHA:84Fanconi anemia87
HP:0004377HP:0004377Hematological neoplasm0FANCG CL E G H21893588ORPHA:84Fanconi anemia73
HP:0004377HP:0004377Hematological neoplasm0FANCG CL E G H21893588OMIM:614082FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG73
HP:0004377HP:0004377Hematological neoplasm0FANCI CL E G H5521525568ORPHA:84Fanconi anemia157
HP:0004377HP:0004377Hematological neoplasm0FANCL CL E G H5512020748ORPHA:84Fanconi anemia53
HP:0004377HP:0004377Hematological neoplasm0FANCM CL E G H5769723168ORPHA:84Fanconi anemia107
HP:0004377HP:0004377Hematological neoplasm0FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndrome59
HP:0004377HP:0004377Hematological neoplasm0FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndrome37
HP:0004377HP:0004377Hematological neoplasm0FCHO1 CL E G H2314929002OMIM:619164IMMUNODEFICIENCY 76; IMD76
HP:0004377HP:0004377Hematological neoplasm0FLT3 CL E G H23223765OMIM:613065Leukemia, acute lymphocytic, susceptibility to, 161
HP:0004377HP:0004377Hematological neoplasm0FLT3 CL E G H23223765OMIM:601626Leukemia, acute myeloid61
HP:0004377HP:0004377Hematological neoplasm0FOXP1 CL E G H270863823ORPHA:52417MALT lymphoma184
HP:0004377HP:0004377Hematological neoplasm0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemia29
HP:0004377HP:0004377Hematological neoplasm0GATA1 CL E G H26234170OMIM:190685Down syndrometrisomy 21, included29
HP:0004377HP:0004377Hematological neoplasm0GATA2 CL E G H26244171ORPHA:3226Deafness-lymphedema-leukemia syndrome137
HP:0004377HP:0004377Hematological neoplasm0GATA2 CL E G H26244171OMIM:614172Immunodeficiency 21137
HP:0004377HP:0004377Hematological neoplasm0GATA2 CL E G H26244171OMIM:601626Leukemia, acute myeloid137
HP:0004377HP:0004377Hematological neoplasm0GATA2 CL E G H26244171OMIM:614038Lymphedema, primary, with myelodysplasia137
HP:0004377HP:0004377Hematological neoplasm0GATA2 CL E G H26244171OMIM:614286Myelodysplastic syndrome137
HP:0004377HP:0004377Hematological neoplasm0GATA2 CL E G H26244171ORPHA:98827Unclassified myelodysplastic syndrome137
HP:0004377HP:0004377Hematological neoplasm0GBA1 CL E G H26294177OMIM:230800Gaucher disease, type I
HP:0004377HP:0004377Hematological neoplasm0GFI1 CL E G H26724237ORPHA:486Autosomal dominant severe congenital neutropenia56
HP:0004377HP:0004377Hematological neoplasm0GFI1 CL E G H26724237OMIM:607847Neutropenia, nonimmune chronic idiopathic, of adults56
HP:0004377HP:0004377Hematological neoplasm0GINS1 CL E G H983728980OMIM:617827Immunodeficiency 55
HP:0004377HP:0004377Hematological neoplasm0GLI1 CL E G H27354317ORPHA:289Ellis Van Creveld syndrome1
HP:0004377HP:0004377Hematological neoplasm0GNB1 CL E G H27824396OMIM:613065Leukemia, acute lymphocytic, susceptibility to, 112
HP:0004377HP:0004377Hematological neoplasm0GNB1 CL E G H27824396OMIM:614286Myelodysplastic syndrome12
HP:0004377HP:0004377Hematological neoplasm0H4C9 CL E G H82944793OMIM:619951
HP:0004377HP:0004377Hematological neoplasm0HAX1 CL E G H1045616915OMIM:610738NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN332
HP:0004377HP:0004377Hematological neoplasm0HLA-DQA1 CL E G H31174942OMIM:212750Celiac disease, susceptibility to, 1
HP:0004377HP:0004377Hematological neoplasm0HLA-DQB1 CL E G H31194944OMIM:212750Celiac disease, susceptibility to, 1
HP:0004377HP:0004377Hematological neoplasm0HLA-DRB1 CL E G H31234948ORPHA:545Follicular lymphoma2
HP:0004377HP:0004377Hematological neoplasm0HSCB CL E G H15027428913OMIM:619523ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0004377HP:0004377Hematological neoplasm0HSPA9 CL E G H33135244OMIM:182170ANEMIA, SIDEROBLASTIC, 4; SIDBA46
HP:0004377HP:0004377Hematological neoplasm0ICOS CL E G H298515351ORPHA:1572Common variable immunodeficiency32
HP:0004377HP:0004377Hematological neoplasm0ICOS CL E G H298515351OMIM:240500Immunodeficiency, common variable, 232
HP:0004377HP:0004377Hematological neoplasm0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0004377HP:0004377Hematological neoplasm0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndrome28
HP:0004377HP:0004377Hematological neoplasm0IGH CL E G H34925477ORPHA:545Follicular lymphoma7
HP:0004377HP:0004377Hematological neoplasm0IGH CL E G H34925477ORPHA:52417MALT lymphoma7
HP:0004377HP:0004377Hematological neoplasm0IGH CL E G H34925477ORPHA:52416Mantle cell lymphoma7
HP:0004377HP:0004377Hematological neoplasm0IGHG2 CL E G H35015526ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency1
HP:0004377HP:0004377Hematological neoplasm0IGKC CL E G H35145716ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency5
HP:0004377HP:0004377Hematological neoplasm0IKZF1 CL E G H1032013176OMIM:616873IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID138
HP:0004377HP:0004377Hematological neoplasm0IKZF3 CL E G H2280613178OMIM:619437IMMUNODEFICIENCY 84; IMD84
HP:0004377HP:0004377Hematological neoplasm0IL2RG CL E G H35616010ORPHA:39041Omenn syndrome48
HP:0004377HP:0004377Hematological neoplasm0IL2RG CL E G H35616010ORPHA:276T-B+ severe combined immunodeficiency due to gamma chain deficiency48
HP:0004377HP:0004377Hematological neoplasm0IL7R CL E G H35756024ORPHA:39041Omenn syndrome94
HP:0004377HP:0004377Hematological neoplasm0IRF2BP2 CL E G H35994821729ORPHA:1572Common variable immunodeficiency4
HP:0004377HP:0004377Hematological neoplasm0ITK CL E G H37026171OMIM:613011LYMPHOPROLIFERATIVE SYNDROME 1; LPFS151
HP:0004377HP:0004377Hematological neoplasm0JAK2 CL E G H37176192ORPHA:3318Essential thrombocythemia57
HP:0004377HP:0004377Hematological neoplasm0JAK2 CL E G H37176192ORPHA:71493Familial thrombocytosis57
HP:0004377HP:0004377Hematological neoplasm0JAK2 CL E G H37176192OMIM:601626Leukemia, acute myeloid57
HP:0004377HP:0004377Hematological neoplasm0JAK2 CL E G H37176192OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included57
HP:0004377HP:0004377Hematological neoplasm0JAK2 CL E G H37176192ORPHA:729Polycythemia vera57
HP:0004377HP:0004377Hematological neoplasm0JAK2 CL E G H37176192ORPHA:824Primary myelofibrosisHP:0040284 - Very rare57
HP:0004377HP:0004377Hematological neoplasm0KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndrome46
HP:0004377HP:0004377Hematological neoplasm0KIT CL E G H38156342OMIM:601626Leukemia, acute myeloid327
HP:0004377HP:0004377Hematological neoplasm0KIT CL E G H38156342ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040281 - Very frequent327
HP:0004377HP:0004377Hematological neoplasm0KLHDC8B CL E G H20094228557OMIM:236000Lymphoma, hodgkin1
HP:0004377HP:0004377Hematological neoplasm0KRAS CL E G H38456407OMIM:601626Leukemia, acute myeloid196
HP:0004377HP:0004377Hematological neoplasm0KRAS CL E G H38456407OMIM:609942Noonan syndrome 3196
HP:0004377HP:0004377Hematological neoplasm0KRAS CL E G H38456407OMIM:614470RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic196
HP:0004377HP:0004377Hematological neoplasm0LIG4 CL E G H39816601ORPHA:235Dubowitz syndrome88
HP:0004377HP:0004377Hematological neoplasm0LIG4 CL E G H39816601ORPHA:99812LIG4 syndrome88
HP:0004377HP:0004377Hematological neoplasm0LIG4 CL E G H39816601OMIM:606593Lig4 syndrome88
HP:0004377HP:0004377Hematological neoplasm0LIG4 CL E G H39816601OMIM:254500Multiple myeloma88
HP:0004377HP:0004377Hematological neoplasm0LIG4 CL E G H39816601ORPHA:39041Omenn syndrome88
HP:0004377HP:0004377Hematological neoplasm0LPP CL E G H40266679OMIM:601626Leukemia, acute myeloid1
HP:0004377HP:0004377Hematological neoplasm0LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0004377HP:0004377Hematological neoplasm0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndrome
HP:0004377HP:0004377Hematological neoplasm0LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0004377HP:0004377Hematological neoplasm0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemia1
HP:0004377HP:0004377Hematological neoplasm0MAGT1 CL E G H8406128880OMIM:300853IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN17
HP:0004377HP:0004377Hematological neoplasm0MALT1 CL E G H108926819ORPHA:52417MALT lymphoma6
HP:0004377HP:0004377Hematological neoplasm0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0004377HP:0004377Hematological neoplasm0MBD4 CL E G H89306919OMIM:6199751
HP:0004377HP:0004377Hematological neoplasm0MCM4 CL E G H41736947OMIM:609981Immunodeficiency 5469
HP:0004377HP:0004377Hematological neoplasm0MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndrome1
HP:0004377HP:0004377Hematological neoplasm0MEFV CL E G H42106998ORPHA:3243Sweet syndromeHP:0040283 - Occasional281
HP:0004377HP:0004377Hematological neoplasm0MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 11819
HP:0004377HP:0004377Hematological neoplasm0MLH1 CL E G H42927127ORPHA:587Muir-Torre syndromeHP:0040283 - Occasional1819
HP:0004377HP:0004377Hematological neoplasm0MLLT10 CL E G H802816063OMIM:601626Leukemia, acute myeloid
HP:0004377HP:0004377Hematological neoplasm0MPL CL E G H43527217ORPHA:3318Essential thrombocythemia97
HP:0004377HP:0004377Hematological neoplasm0MPL CL E G H43527217ORPHA:71493Familial thrombocytosis97
HP:0004377HP:0004377Hematological neoplasm0MPL CL E G H43527217OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included97
HP:0004377HP:0004377Hematological neoplasm0MPL CL E G H43527217ORPHA:729Polycythemia vera97
HP:0004377HP:0004377Hematological neoplasm0MPL CL E G H43527217ORPHA:824Primary myelofibrosisHP:0040284 - Very rare97
HP:0004377HP:0004377Hematological neoplasm0MS4A1 CL E G H9317315ORPHA:1572Common variable immunodeficiency1
HP:0004377HP:0004377Hematological neoplasm0MSH2 CL E G H44367325OMIM:619096MISMATCH REPAIR CANCER SYNDROME 2; MMRCS22162
HP:0004377HP:0004377Hematological neoplasm0MSH2 CL E G H44367325ORPHA:587Muir-Torre syndromeHP:0040283 - Occasional2162
HP:0004377HP:0004377Hematological neoplasm0MSH6 CL E G H29567329OMIM:619097MISMATCH REPAIR CANCER SYNDROME 3; MMRCS32232
HP:0004377HP:0004377Hematological neoplasm0MSH6 CL E G H29567329ORPHA:587Muir-Torre syndromeHP:0040283 - Occasional2232
HP:0004377HP:0004377Hematological neoplasm0MYC CL E G H46097553OMIM:113970Burkitt lymphoma11
HP:0004377HP:0004377Hematological neoplasm0MYD88 CL E G H46157562OMIM:153600Macroglobulinemia, Waldenstrom, somatic9
HP:0004377HP:0004377Hematological neoplasm0MYD88 CL E G H46157562ORPHA:33226Waldenström macroglobulinemia9
HP:0004377HP:0004377Hematological neoplasm0MYSM1 CL E G H11480329401ORPHA:508542Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0004377HP:0004377Hematological neoplasm0NAGS CL E G H16241717996ORPHA:927Hyperammonemia due to N-acetylglutamate synthase deficiency36
HP:0004377HP:0004377Hematological neoplasm0NBEAL2 CL E G H2321831928ORPHA:721Gray platelet syndrome127
HP:0004377HP:0004377Hematological neoplasm0NBN CL E G H46837652OMIM:613065Leukemia, acute lymphocytic, susceptibility to, 1706
HP:0004377HP:0004377Hematological neoplasm0NBN CL E G H46837652ORPHA:647Nijmegen breakage syndrome706
HP:0004377HP:0004377Hematological neoplasm0NBN CL E G H46837652OMIM:251260Nijmegen breakage syndrome706
HP:0004377HP:0004377Hematological neoplasm0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndrome1952
HP:0004377HP:0004377Hematological neoplasm0NF1 CL E G H47637765OMIM:607785Juvenile myelomonocytic leukemia1952
HP:0004377HP:0004377Hematological neoplasm0NFKB1 CL E G H47907794ORPHA:1572Common variable immunodeficiency7
HP:0004377HP:0004377Hematological neoplasm0NFKB2 CL E G H47917795ORPHA:1572Common variable immunodeficiency11
HP:0004377HP:0004377Hematological neoplasm0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenita27
HP:0004377HP:0004377Hematological neoplasm0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenita17
HP:0004377HP:0004377Hematological neoplasm0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenita12
HP:0004377HP:0004377Hematological neoplasm0NPM1 CL E G H48697910OMIM:601626Leukemia, acute myeloid12
HP:0004377HP:0004377Hematological neoplasm0NRAS CL E G H48937989OMIM:613224Noonan syndrome 6102
HP:0004377HP:0004377Hematological neoplasm0NRAS CL E G H48937989OMIM:614470RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic102
HP:0004377HP:0004377Hematological neoplasm0NSD1 CL E G H6432414234ORPHA:821Sotos syndrome544
HP:0004377HP:0004377Hematological neoplasm0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndrome84
HP:0004377HP:0004377Hematological neoplasm0NTHL1 CL E G H49138028ORPHA:454840NTHL1-related attenuated familial adenomatous polyposis2
HP:0004377HP:0004377Hematological neoplasm0NUMA1 CL E G H49268059OMIM:612376Acute promyelocytic leukemia
HP:0004377HP:0004377Hematological neoplasm0NUP214 CL E G H80218064OMIM:613065Leukemia, acute lymphocytic, susceptibility to, 11
HP:0004377HP:0004377Hematological neoplasm0NUP214 CL E G H80218064OMIM:601626Leukemia, acute myeloid1
HP:0004377HP:0004377Hematological neoplasm0NUTM1 CL E G H25664629919ORPHA:443167NUT midline carcinoma
HP:0004377HP:0004377Hematological neoplasm0PALB2 CL E G H7972826144ORPHA:84Fanconi anemia1349
HP:0004377HP:0004377Hematological neoplasm0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenita26
HP:0004377HP:0004377Hematological neoplasm0PDGFRA CL E G H51568803OMIM:607685Hypereosinophilic syndrome, idiopathic337
HP:0004377HP:0004377Hematological neoplasm0PDGFRB CL E G H51598804OMIM:131440Myeloproliferative disorder, chronic, with eosinophilia28
HP:0004377HP:0004377Hematological neoplasm0PGM3 CL E G H52388907OMIM:615816Immunodeficiency 2315
HP:0004377HP:0004377Hematological neoplasm0PGM3 CL E G H52388907ORPHA:443811PGM3-CDG15
HP:0004377HP:0004377Hematological neoplasm0PICALM CL E G H830115514OMIM:601626Leukemia, acute myeloid3
HP:0004377HP:0004377Hematological neoplasm0PIGL CL E G H94878966ORPHA:3474CHIME syndrome36
HP:0004377HP:0004377Hematological neoplasm0PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome36
HP:0004377HP:0004377Hematological neoplasm0PIK3CA CL E G H52908975OMIM:602501Megalencephaly-Capillary malformation-polymicrogyria syndrome162
HP:0004377HP:0004377Hematological neoplasm0PIK3R1 CL E G H52958979OMIM:616005Immunodeficiency 3643
HP:0004377HP:0004377Hematological neoplasm0PMS2 CL E G H53959122OMIM:619101MISMATCH REPAIR CANCER SYNDROME 4; MMRCS41121
HP:0004377HP:0004377Hematological neoplasm0PNP CL E G H48607892OMIM:613179Immunodeficiency due to purine nucleoside phosphorylase deficiency52
HP:0004377HP:0004377Hematological neoplasm0POLE CL E G H54269177OMIM:618336Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency1129
HP:0004377HP:0004377Hematological neoplasm0POT1 CL E G H2591317284OMIM:616568Glioma susceptibility 923
HP:0004377HP:0004377Hematological neoplasm0PRF1 CL E G H55519360OMIM:605027Lymphoma, non-hodgkin, familial58
HP:0004377HP:0004377Hematological neoplasm0PRKACA CL E G H55669380ORPHA:289Ellis Van Creveld syndrome2
HP:0004377HP:0004377Hematological neoplasm0PRKACB CL E G H55679381ORPHA:289Ellis Van Creveld syndrome2
HP:0004377HP:0004377Hematological neoplasm0PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndrome10
HP:0004377HP:0004377Hematological neoplasm0PRKCD CL E G H55809399OMIM:615559AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS310
HP:0004377HP:0004377Hematological neoplasm0PRKCD CL E G H55809399ORPHA:1572Common variable immunodeficiency10
HP:0004377HP:0004377Hematological neoplasm0PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndrome948
HP:0004377HP:0004377Hematological neoplasm0PTPN11 CL E G H57819644OMIM:607785Juvenile myelomonocytic leukemia291
HP:0004377HP:0004377Hematological neoplasm0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1291
HP:0004377HP:0004377Hematological neoplasm0PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentigines291
HP:0004377HP:0004377Hematological neoplasm0PTPRC CL E G H57889666OMIM:61992425
HP:0004377HP:0004377Hematological neoplasm0RAD51 CL E G H58889817ORPHA:84Fanconi anemia9
HP:0004377HP:0004377Hematological neoplasm0RAD51C CL E G H58899820ORPHA:84Fanconi anemia391
HP:0004377HP:0004377Hematological neoplasm0RAD54B CL E G H2578817228OMIM:605027Lymphoma, non-hodgkin, familial2
HP:0004377HP:0004377Hematological neoplasm0RAD54L CL E G H84389826OMIM:605027Lymphoma, non-hodgkin, familial5
HP:0004377HP:0004377Hematological neoplasm0RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentigines212
HP:0004377HP:0004377Hematological neoplasm0RAG1 CL E G H58969831ORPHA:39041Omenn syndrome127
HP:0004377HP:0004377Hematological neoplasm0RAG2 CL E G H58979832ORPHA:39041Omenn syndrome50
HP:0004377HP:0004377Hematological neoplasm0RARA CL E G H59149864OMIM:612376Acute promyelocytic leukemia2
HP:0004377HP:0004377Hematological neoplasm0RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndrome
HP:0004377HP:0004377Hematological neoplasm0RASGRP1 CL E G H101259878OMIM:618534IMMUNODEFICIENCY 64; IMD64
HP:0004377HP:0004377Hematological neoplasm0RB1 CL E G H59259884OMIM:180200RETINOBLASTOMA365
HP:0004377HP:0004377Hematological neoplasm0RECQL4 CL E G H94019949ORPHA:1225Baller-Gerold syndrome445
HP:0004377HP:0004377Hematological neoplasm0RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2445
HP:0004377HP:0004377Hematological neoplasm0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemia
HP:0004377HP:0004377Hematological neoplasm0RFWD3 CL E G H5515925539OMIM:617784Fanconi anemia, complementation group W
HP:0004377HP:0004377Hematological neoplasm0RHOH CL E G H399686OMIM:618307Epidermodysplasia verruciformis, susceptibility to, 4
HP:0004377HP:0004377Hematological neoplasm0RMRP CL E G H602310031OMIM:250250Cartilage-Hair hypoplasia37
HP:0004377HP:0004377Hematological neoplasm0RMRP CL E G H602310031ORPHA:39041Omenn syndrome37
HP:0004377HP:0004377Hematological neoplasm0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndrome33
HP:0004377HP:0004377Hematological neoplasm0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndrome34
HP:0004377HP:0004377Hematological neoplasm0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndrome60
HP:0004377HP:0004377Hematological neoplasm0RNF43 CL E G H5489418505ORPHA:157798Serrated polyposis syndrome5
HP:0004377HP:0004377Hematological neoplasm0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndrome
HP:0004377HP:0004377Hematological neoplasm0RPA1 CL E G H611710289OMIM:619767PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0004377HP:0004377Hematological neoplasm0RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemia22
HP:0004377HP:0004377Hematological neoplasm0RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemia3
HP:0004377HP:0004377Hematological neoplasm0RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemia
HP:0004377HP:0004377Hematological neoplasm0RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemia3
HP:0004377HP:0004377Hematological neoplasm0RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemia1
HP:0004377HP:0004377Hematological neoplasm0RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemia
HP:0004377HP:0004377Hematological neoplasm0RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemia
HP:0004377HP:0004377Hematological neoplasm0RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemia11
HP:0004377HP:0004377Hematological neoplasm0RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemia40
HP:0004377HP:0004377Hematological neoplasm0RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemia26
HP:0004377HP:0004377Hematological neoplasm0RPS14 CL E G H620810387OMIM:153550Chromosome 5q deletion syndrome
HP:0004377HP:0004377Hematological neoplasm0RPS14 CL E G H620810387ORPHA:86841Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
HP:0004377HP:0004377Hematological neoplasm0RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemia
HP:0004377HP:0004377Hematological neoplasm0RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemia5
HP:0004377HP:0004377Hematological neoplasm0RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemia42
HP:0004377HP:0004377Hematological neoplasm0RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 142
HP:0004377HP:0004377Hematological neoplasm0RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemia1
HP:0004377HP:0004377Hematological neoplasm0RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemia22
HP:0004377HP:0004377Hematological neoplasm0RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemia20
HP:0004377HP:0004377Hematological neoplasm0RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemia1
HP:0004377HP:0004377Hematological neoplasm0RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemia1
HP:0004377HP:0004377Hematological neoplasm0RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemia3
HP:0004377HP:0004377Hematological neoplasm0RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemia20
HP:0004377HP:0004377Hematological neoplasm0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenita77
HP:0004377HP:0004377Hematological neoplasm0RUNX1 CL E G H86110471ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional181
HP:0004377HP:0004377Hematological neoplasm0RUNX1 CL E G H86110471ORPHA:521Chronic myeloid leukemia181
HP:0004377HP:0004377Hematological neoplasm0RUNX1 CL E G H86110471OMIM:601626Leukemia, acute myeloid181
HP:0004377HP:0004377Hematological neoplasm0RUNX1 CL E G H86110471OMIM:601399Platelet disorder, familial, with associated myeloid malignancy181
HP:0004377HP:0004377Hematological neoplasm0SAMD9 CL E G H548091348OMIM:617053Mirage syndrome8
HP:0004377HP:0004377Hematological neoplasm0SAMD9 CL E G H548091348OMIM:619041MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS28
HP:0004377HP:0004377Hematological neoplasm0SAMD9L CL E G H2192851349OMIM:159550Ataxia-Pancytopenia syndrome4
HP:0004377HP:0004377Hematological neoplasm0SAMD9L CL E G H2192851349ORPHA:2585Ataxia-pancytopenia syndrome4
HP:0004377HP:0004377Hematological neoplasm0SAMD9L CL E G H2192851349OMIM:252270Myelodysplasia and leukemia syndrome with monosomy 74
HP:0004377HP:0004377Hematological neoplasm0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndrome55
HP:0004377HP:0004377Hematological neoplasm0SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndrome26
HP:0004377HP:0004377Hematological neoplasm0SBDS CL E G H5111919440OMIM:260400Shwachman-Diamond syndrome 126
HP:0004377HP:0004377Hematological neoplasm0SCN10A CL E G H633610582ORPHA:90026Primary erythromelalgia146
HP:0004377HP:0004377Hematological neoplasm0SCN11A CL E G H1128010583ORPHA:90026Primary erythromelalgia19
HP:0004377HP:0004377Hematological neoplasm0SCN9A CL E G H633510597ORPHA:90026Primary erythromelalgia318
HP:0004377HP:0004377Hematological neoplasm0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndrome143
HP:0004377HP:0004377Hematological neoplasm0SETD2 CL E G H2907218420ORPHA:821Sotos syndrome60
HP:0004377HP:0004377Hematological neoplasm0SF3B1 CL E G H2345110768ORPHA:75564Acquired idiopathic sideroblastic anemia19
HP:0004377HP:0004377Hematological neoplasm0SF3B1 CL E G H2345110768OMIM:614286Myelodysplastic syndrome19
HP:0004377HP:0004377Hematological neoplasm0SH2B3 CL E G H1001929605ORPHA:3318Essential thrombocythemia4
HP:0004377HP:0004377Hematological neoplasm0SH2B3 CL E G H1001929605OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included4
HP:0004377HP:0004377Hematological neoplasm0SH2D1A CL E G H406810820OMIM:308240Lymphoproliferative syndrome, X-linked, 137
HP:0004377HP:0004377Hematological neoplasm0SH3GL1 CL E G H645510830OMIM:601626Leukemia, acute myeloid
HP:0004377HP:0004377Hematological neoplasm0SLX4 CL E G H8446423845ORPHA:84Fanconi anemia274
HP:0004377HP:0004377Hematological neoplasm0SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasia74
HP:0004377HP:0004377Hematological neoplasm0SMARCD2 CL E G H660311107OMIM:617475SPECIFIC GRANULE DEFICIENCY 2; SGD23
HP:0004377HP:0004377Hematological neoplasm0SMPD1 CL E G H660911120ORPHA:77293Niemann-Pick disease type B164
HP:0004377HP:0004377Hematological neoplasm0SOCS1 CL E G H865119383OMIM:619375AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD6
HP:0004377HP:0004377Hematological neoplasm0SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0004377HP:0004377Hematological neoplasm0SRP54 CL E G H672911301ORPHA:486Autosomal dominant severe congenital neutropenia
HP:0004377HP:0004377Hematological neoplasm0SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndrome
HP:0004377HP:0004377Hematological neoplasm0SRP54 CL E G H672911301OMIM:260400Shwachman-Diamond syndrome 1
HP:0004377HP:0004377Hematological neoplasm0SRP72 CL E G H673111303OMIM:614675Bone marrow failure syndrome 168
HP:0004377HP:0004377Hematological neoplasm0SRSF2 CL E G H642710783ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional1
HP:0004377HP:0004377Hematological neoplasm0SRSF2 CL E G H642710783ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040281 - Very frequent1
HP:0004377HP:0004377Hematological neoplasm0STAT3 CL E G H677411364OMIM:615952AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1110
HP:0004377HP:0004377Hematological neoplasm0STAT3 CL E G H677411364ORPHA:2314Autosomal dominant hyper-IgE syndrome110
HP:0004377HP:0004377Hematological neoplasm0STS CL E G H41211425ORPHA:281090Syndromic recessive X-linked ichthyosis19
HP:0004377HP:0004377Hematological neoplasm0SYK CL E G H685011491OMIM:619381IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD821
HP:0004377HP:0004377Hematological neoplasm0TAL1 CL E G H688611556OMIM:613065Leukemia, acute lymphocytic, susceptibility to, 1
HP:0004377HP:0004377Hematological neoplasm0TAL2 CL E G H688711557OMIM:613065Leukemia, acute lymphocytic, susceptibility to, 1
HP:0004377HP:0004377Hematological neoplasm0TCF3 CL E G H692911633OMIM:619824AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B2
HP:0004377HP:0004377Hematological neoplasm0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndrome241
HP:0004377HP:0004377Hematological neoplasm0TCIRG1 CL E G H1031211647ORPHA:486Autosomal dominant severe congenital neutropenia82
HP:0004377HP:0004377Hematological neoplasm0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenita48
HP:0004377HP:0004377Hematological neoplasm0TERC CL E G H701211727OMIM:127550Dyskeratosis congenita, autosomal dominant, 148
HP:0004377HP:0004377Hematological neoplasm0TERC CL E G H701211727OMIM:614743Pulmonary fibrosis and/or bone marrow failure, telomere-related, 248
HP:0004377HP:0004377Hematological neoplasm0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenita238
HP:0004377HP:0004377Hematological neoplasm0TERT CL E G H701511730OMIM:127550Dyskeratosis congenita, autosomal dominant, 1238
HP:0004377HP:0004377Hematological neoplasm0TERT CL E G H701511730OMIM:601626Leukemia, acute myeloid238
HP:0004377HP:0004377Hematological neoplasm0TERT CL E G H701511730OMIM:614742PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1238
HP:0004377HP:0004377Hematological neoplasm0TET2 CL E G H5479025941ORPHA:75564Acquired idiopathic sideroblastic anemia3
HP:0004377HP:0004377Hematological neoplasm0TET2 CL E G H5479025941ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional3
HP:0004377HP:0004377Hematological neoplasm0TET2 CL E G H5479025941ORPHA:3318Essential thrombocythemia3
HP:0004377HP:0004377Hematological neoplasm0TET2 CL E G H5479025941OMIM:619126IMMUNODEFICIENCY 75; IMD753
HP:0004377HP:0004377Hematological neoplasm0TET2 CL E G H5479025941OMIM:614286Myelodysplastic syndrome3
HP:0004377HP:0004377Hematological neoplasm0TET2 CL E G H5479025941ORPHA:729Polycythemia vera3
HP:0004377HP:0004377Hematological neoplasm0TET2 CL E G H5479025941ORPHA:824Primary myelofibrosisHP:0040284 - Very rare3
HP:0004377HP:0004377Hematological neoplasm0TET2 CL E G H5479025941ORPHA:98826Refractory anemia3
HP:0004377HP:0004377Hematological neoplasm0TET2 CL E G H5479025941ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040281 - Very frequent3
HP:0004377HP:0004377Hematological neoplasm0THPO CL E G H706611795ORPHA:71493Familial thrombocytosis23
HP:0004377HP:0004377Hematological neoplasm0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenita60
HP:0004377HP:0004377Hematological neoplasm0TINF2 CL E G H2627711824OMIM:127550Dyskeratosis congenita, autosomal dominant, 160
HP:0004377HP:0004377Hematological neoplasm0TNFRSF13B CL E G H2349518153ORPHA:1572Common variable immunodeficiency32
HP:0004377HP:0004377Hematological neoplasm0TNFRSF13B CL E G H2349518153OMIM:240500Immunodeficiency, common variable, 232
HP:0004377HP:0004377Hematological neoplasm0TNFRSF13C CL E G H11565017755ORPHA:1572Common variable immunodeficiency12
HP:0004377HP:0004377Hematological neoplasm0TNFRSF13C CL E G H11565017755OMIM:240500Immunodeficiency, common variable, 212
HP:0004377HP:0004377Hematological neoplasm0TNFRSF1B CL E G H713311917ORPHA:2584Classic mycosis fungoides
HP:0004377HP:0004377Hematological neoplasm0TNFRSF1B CL E G H713311917ORPHA:3162Sézary syndrome
HP:0004377HP:0004377Hematological neoplasm0TNFSF12 CL E G H874211927ORPHA:1572Common variable immunodeficiency1
HP:0004377HP:0004377Hematological neoplasm0TP53 CL E G H715711998ORPHA:3318Essential thrombocythemia911
HP:0004377HP:0004377Hematological neoplasm0TP53 CL E G H715711998ORPHA:524Li-Fraumeni syndrome911
HP:0004377HP:0004377Hematological neoplasm0TP53 CL E G H715711998OMIM:151623Li-Fraumeni syndrome911
HP:0004377HP:0004377Hematological neoplasm0TP63 CL E G H862615979ORPHA:1896EEC syndrome140
HP:0004377HP:0004377Hematological neoplasm0TREM2 CL E G H5420917761ORPHA:2770Nasu-Hakola disease31
HP:0004377HP:0004377Hematological neoplasm0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndrome56
HP:0004377HP:0004377Hematological neoplasm0TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndrome2
HP:0004377HP:0004377Hematological neoplasm0TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemia1
HP:0004377HP:0004377Hematological neoplasm0TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndrome26
HP:0004377HP:0004377Hematological neoplasm0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenita1
HP:0004377HP:0004377Hematological neoplasm0TYROBP CL E G H730512449ORPHA:2770Nasu-Hakola disease22
HP:0004377HP:0004377Hematological neoplasm0UBA1 CL E G H731712469OMIM:301054VEXAS SYNDROME; VEXAS35
HP:0004377HP:0004377Hematological neoplasm0UBE2T CL E G H2908925009ORPHA:84Fanconi anemia2
HP:0004377HP:0004377Hematological neoplasm0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenita8
HP:0004377HP:0004377Hematological neoplasm0WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndrome65
HP:0004377HP:0004377Hematological neoplasm0WAS CL E G H745412731OMIM:301000Wiskott-Aldrich syndrome65
HP:0004377HP:0004377Hematological neoplasm0WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndrome6
HP:0004377HP:0004377Hematological neoplasm0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenita40
HP:0004377HP:0004377Hematological neoplasm0XIAP CL E G H331592OMIM:308240Lymphoproliferative syndrome, X-linked, 181
HP:0004377HP:0004377Hematological neoplasm0XRCC2 CL E G H751612829ORPHA:84Fanconi anemia125
HP:0004377HP:0004377Hematological neoplasm0XRCC4 CL E G H751812831ORPHA:99812LIG4 syndrome9
HP:0004377HP:0004377Hematological neoplasm0ZAP70 CL E G H753512858ORPHA:911Combined immunodeficiency due to ZAP70 deficiency46
HP:0004377HP:0011857Plasmacytoma1 CL E G H
HP:0004377HP:0002665Lymphoma1AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 17
HP:0004377HP:0001909Leukemia1ABL1 CL E G H2576ORPHA:521Chronic myeloid leukemia51
HP:0004377HP:0001909Leukemia1ABL1 CL E G H2576OMIM:608232Leukemia, chronic myeloid51
HP:0004377HP:0002665Lymphoma1ADA CL E G H100186ORPHA:39041Omenn syndromeHP:0040283 - Occasional75
HP:0004377HP:0002665Lymphoma1ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency75
HP:0004377HP:0001909Leukemia1ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemia22
HP:0004377HP:0002863Myelodysplasia1ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional22
HP:0004377HP:0005523Lymphoproliferative disorder1ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0004377HP:0001909Leukemia1ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndrome116
HP:0004377HP:0002863Myelodysplasia1ADH5 CL E G H128253OMIM:619151AMED SYNDROME, DIGENIC; AMEDS
HP:0004377HP:0001909Leukemia1ADH5 CL E G H128253OMIM:619151AMED SYNDROME, DIGENIC; AMEDS
HP:0004377HP:0001909Leukemia1ALAD CL E G H210395ORPHA:100924Porphyria due to ALA dehydratase deficiency62
HP:0004377HP:0001909Leukemia1ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040284 - Very rare2
HP:0004377HP:0002863Myelodysplasia1ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040283 - Occasional2
HP:0004377HP:0001909Leukemia1APC CL E G H324583ORPHA:99818Turcot syndrome with polyposisHP:0040284 - Very rare3179
HP:0004377HP:0002665Lymphoma1APC CL E G H324583ORPHA:99818Turcot syndrome with polyposisHP:0040284 - Very rare3179
HP:0004377HP:0001909Leukemia1APC2 CL E G H1029724036ORPHA:821Sotos syndrome1
HP:0004377HP:0001909Leukemia1ARHGAP26 CL E G H2309217073OMIM:607785Juvenile myelomonocytic leukemia12
HP:0004377HP:0001909Leukemia1ASXL1 CL E G H17102318318ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional145
HP:0004377HP:0002863Myelodysplasia1ASXL1 CL E G H17102318318OMIM:614286Myelodysplastic syndrome.145
HP:0004377HP:0002863Myelodysplasia1ASXL1 CL E G H17102318318ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional145
HP:0004377HP:0006775Multiple myeloma1ASXL1 CL E G H17102318318ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040284 - Very rare145
HP:0004377HP:0001909Leukemia1ASXL1 CL E G H17102318318ORPHA:98849Systemic mastocytosis with associated hematologic neoplasm145
HP:0004377HP:0002665Lymphoma1ASXL1 CL E G H17102318318ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional145
HP:0004377HP:0002665Lymphoma1ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA.3267
HP:0004377HP:0001909Leukemia1ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA.3267
HP:0004377HP:0002665Lymphoma1ATM CL E G H472795ORPHA:52416Mantle cell lymphoma3267
HP:0004377HP:0002863Myelodysplasia1ATRX CL E G H546886OMIM:300448ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS169
HP:0004377HP:0002863Myelodysplasia1ATRX CL E G H546886ORPHA:231401Alpha-thalassemia-myelodysplastic syndromeHP:0040283 - Occasional169
HP:0004377HP:0001909Leukemia1ATRX CL E G H546886ORPHA:231401Alpha-thalassemia-myelodysplastic syndrome169
HP:0004377HP:0001909Leukemia1BAX CL E G H581959OMIM:613065Leukemia, acute lymphocytic, susceptibility to, 14
HP:0004377HP:0002665Lymphoma1BCL10 CL E G H8915989OMIM:137245Gastric lymphoma, primary18
HP:0004377HP:0002665Lymphoma1BCL10 CL E G H8915989OMIM:605027Lymphoma, non-hodgkin, familial.18
HP:0004377HP:0002665Lymphoma1BCL10 CL E G H8915989ORPHA:52417MALT lymphoma18
HP:0004377HP:0002665Lymphoma1BCL2 CL E G H596990ORPHA:545Follicular lymphomaHP:0040281 - Very frequent1
HP:0004377HP:0002665Lymphoma1BCL6 CL E G H6041001ORPHA:545Follicular lymphomaHP:0040281 - Very frequent1
HP:0004377HP:0001909Leukemia1BCR CL E G H6131014ORPHA:521Chronic myeloid leukemia5
HP:0004377HP:0001909Leukemia1BCR CL E G H6131014OMIM:613065Leukemia, acute lymphocytic, susceptibility to, 15
HP:0004377HP:0001909Leukemia1BCR CL E G H6131014OMIM:608232Leukemia, chronic myeloid5
HP:0004377HP:0002665Lymphoma1BIRC3 CL E G H330591ORPHA:52417MALT lymphoma
HP:0004377HP:0001909Leukemia1BLM CL E G H6411058OMIM:210900Bloom syndrome.314
HP:0004377HP:0002863Myelodysplasia1BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040283 - Occasional314
HP:0004377HP:0001909Leukemia1BLM CL E G H6411058ORPHA:125Bloom syndrome314
HP:0004377HP:0002665Lymphoma1BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040283 - Occasional314
HP:0004377HP:0002665Lymphoma1BLM CL E G H6411058OMIM:210900Bloom syndrome.314
HP:0004377HP:0001909Leukemia1BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0004377HP:0002863Myelodysplasia1BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentiginesHP:0040283 - Occasional276
HP:0004377HP:0002863Myelodysplasia1BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0004377HP:0002863Myelodysplasia1BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0004377HP:0001909Leukemia1BRCA2 CL E G H6751101OMIM:605724Fanconi anemia, complementation group D17642
HP:0004377HP:0001909Leukemia1BRD4 CL E G H2347613575ORPHA:443167NUT midline carcinomaHP:0040282 - Frequent
HP:0004377HP:0002863Myelodysplasia1BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0004377HP:0001909Leukemia1BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndrome5
HP:0004377HP:0002863Myelodysplasia1BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional5
HP:0004377HP:0001909Leukemia1BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndrome76
HP:0004377HP:0002863Myelodysplasia1BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional76
HP:0004377HP:0001909Leukemia1BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 1.76
HP:0004377HP:0002863Myelodysplasia1BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional
HP:0004377HP:0001909Leukemia1BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndrome
HP:0004377HP:0001909Leukemia1CALR CL E G H8111455ORPHA:3318Essential thrombocythemia1
HP:0004377HP:0002863Myelodysplasia1CALR CL E G H8111455ORPHA:3318Essential thrombocythemiaHP:0040283 - Occasional1
HP:0004377HP:0001909Leukemia1CALR CL E G H8111455OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included1
HP:0004377HP:0002665Lymphoma1CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndrome87
HP:0004377HP:0002665Lymphoma1CASP10 CL E G H8431500OMIM:605027Lymphoma, non-hodgkin, familial.87
HP:0004377HP:0001909Leukemia1CBL CL E G H8671541ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional317
HP:0004377HP:0001909Leukemia1CBL CL E G H8671541OMIM:607785Juvenile myelomonocytic leukemia317
HP:0004377HP:0001909Leukemia1CBL CL E G H8671541OMIM:613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia317
HP:0004377HP:0002665Lymphoma1CCND1 CL E G H5951582ORPHA:52416Mantle cell lymphoma1
HP:0004377HP:0006775Multiple myeloma1CCND1 CL E G H5951582OMIM:254500Multiple myeloma.1
HP:0004377HP:0002665Lymphoma1CD19 CL E G H9301633ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional38
HP:0004377HP:0002665Lymphoma1CD19 CL E G H9301633OMIM:240500Immunodeficiency, common variable, 2.38
HP:0004377HP:0002665Lymphoma1CD27 CL E G H93911922OMIM:615122Lymphoproliferative syndrome 24
HP:0004377HP:0005523Lymphoproliferative disorder1CD27 CL E G H93911922OMIM:615122Lymphoproliferative syndrome 24
HP:0004377HP:0002665Lymphoma1CD28 CL E G H9401653ORPHA:2584Classic mycosis fungoidesHP:0040281 - Very frequent
HP:0004377HP:0002665Lymphoma1CD28 CL E G H9401653ORPHA:3162Sézary syndromeHP:0040281 - Very frequent
HP:0004377HP:0002665Lymphoma1CD70 CL E G H97011937OMIM:618261LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0004377HP:0005523Lymphoproliferative disorder1CD70 CL E G H97011937OMIM:618261LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0004377HP:0002665Lymphoma1CD81 CL E G H9751701ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional1
HP:0004377HP:0002863Myelodysplasia1CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare289
HP:0004377HP:0001909Leukemia1CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndromeHP:0040283 - Occasional289
HP:0004377HP:0002665Lymphoma1CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndromeHP:0040283 - Occasional289
HP:0004377HP:0001909Leukemia1CEBPA CL E G H10501833OMIM:601626Leukemia, acute myeloid65
HP:0004377HP:0002863Myelodysplasia1CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional17
HP:0004377HP:0001909Leukemia1CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndrome17
HP:0004377HP:0002665Lymphoma1CHD7 CL E G H5563620626ORPHA:39041Omenn syndromeHP:0040283 - Occasional515
HP:0004377HP:0002665Lymphoma1CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndromeHP:0040283 - Occasional833
HP:0004377HP:0002863Myelodysplasia1CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare833
HP:0004377HP:0001909Leukemia1CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndromeHP:0040283 - Occasional833
HP:0004377HP:0001909Leukemia1CHIC2 CL E G H265111935OMIM:601626Leukemia, acute myeloid
HP:0004377HP:0001909Leukemia1CLPB CL E G H8157030664ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional38
HP:0004377HP:0002863Myelodysplasia1CLPB CL E G H8157030664ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional38
HP:0004377HP:0002665Lymphoma1COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 12
HP:0004377HP:0002665Lymphoma1CR2 CL E G H13802336ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional10
HP:0004377HP:0002665Lymphoma1CR2 CL E G H13802336OMIM:240500Immunodeficiency, common variable, 2.10
HP:0004377HP:0001909Leukemia1CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1.291
HP:0004377HP:0002863Myelodysplasia1CSF3R CL E G H14412439OMIM:162830Neutrophilia, hereditary.34
HP:0004377HP:0002665Lymphoma1CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional160
HP:0004377HP:0002665Lymphoma1CTLA4 CL E G H14932505ORPHA:2584Classic mycosis fungoidesHP:0040281 - Very frequent10
HP:0004377HP:0002665Lymphoma1CTLA4 CL E G H14932505ORPHA:3162Sézary syndromeHP:0040281 - Very frequent10
HP:0004377HP:0005523Lymphoproliferative disorder1CTPS1 CL E G H15032519OMIM:615897IMMUNODEFICIENCY 24; IMD242
HP:0004377HP:0002665Lymphoma1DCLRE1C CL E G H6442117642ORPHA:39041Omenn syndromeHP:0040283 - Occasional94
HP:0004377HP:0002863Myelodysplasia1DDX41 CL E G H5142818674OMIM:616871Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to23
HP:0004377HP:0001909Leukemia1DDX41 CL E G H5142818674OMIM:616871Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to23
HP:0004377HP:0002665Lymphoma1DDX41 CL E G H5142818674OMIM:616871Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to.23
HP:0004377HP:0002665Lymphoma1DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0004377HP:0002665Lymphoma1DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional65
HP:0004377HP:0001909Leukemia1DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked65
HP:0004377HP:0002665Lymphoma1DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked65
HP:0004377HP:0002863Myelodysplasia1DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0004377HP:0001909Leukemia1DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 35
HP:0004377HP:0002863Myelodysplasia1DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndromeHP:0040282 - Frequent5
HP:0004377HP:0001909Leukemia1DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional5
HP:0004377HP:0002863Myelodysplasia1DNAJC21 CL E G H13421827030OMIM:260400Shwachman-Diamond syndrome 1.5
HP:0004377HP:0001909Leukemia1DNAJC21 CL E G H13421827030OMIM:260400Shwachman-Diamond syndrome 15
HP:0004377HP:0002665Lymphoma1DNASE1L3 CL E G H17762959ORPHA:36412Hypocomplementemic urticarial vasculitisHP:0040283 - Occasional3
HP:0004377HP:0001909Leukemia1DNMT3A CL E G H17882978OMIM:601626Leukemia, acute myeloid44
HP:0004377HP:0001909Leukemia1DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndrome44
HP:0004377HP:0001909Leukemia1DUT CL E G H18543078OMIM:620044
HP:0004377HP:0001909Leukemia1DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndrome7
HP:0004377HP:0002863Myelodysplasia1EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndromeHP:0040282 - Frequent1
HP:0004377HP:0001909Leukemia1EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional1
HP:0004377HP:0002863Myelodysplasia1ELANE CL E G H19913309ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional79
HP:0004377HP:0001909Leukemia1ELANE CL E G H19913309ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional79
HP:0004377HP:0001909Leukemia1ELANE CL E G H19913309OMIM:202700Neutropenia, severe congenital, 1, autosomal dominant79
HP:0004377HP:0001909Leukemia1EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1.250
HP:0004377HP:0002863Myelodysplasia1ERBB3 CL E G H20653431OMIM:133180Erythroleukemia, familial, susceptibility to12
HP:0004377HP:0001909Leukemia1ERBB3 CL E G H20653431OMIM:133180Erythroleukemia, familial, susceptibility to.12
HP:0004377HP:0002863Myelodysplasia1ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040283 - Occasional158
HP:0004377HP:0001909Leukemia1ETV6 CL E G H21203495OMIM:601626Leukemia, acute myeloid13
HP:0004377HP:0001909Leukemia1EVC CL E G H21213497ORPHA:289Ellis Van Creveld syndrome209
HP:0004377HP:0001909Leukemia1EVC2 CL E G H13288419747ORPHA:289Ellis Van Creveld syndrome137
HP:0004377HP:0001909Leukemia1F13A1 CL E G H21623531ORPHA:331Congenital factor XIII deficiency60
HP:0004377HP:0001909Leukemia1F13B CL E G H21653534ORPHA:331Congenital factor XIII deficiency32
HP:0004377HP:0002863Myelodysplasia1FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0004377HP:0001909Leukemia1FANCA CL E G H21753582OMIM:227650Fanconi anemia.340
HP:0004377HP:0002863Myelodysplasia1FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040283 - Occasional58
HP:0004377HP:0002863Myelodysplasia1FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040283 - Occasional410
HP:0004377HP:0001909Leukemia1FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C.410
HP:0004377HP:0002863Myelodysplasia1FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040283 - Occasional147
HP:0004377HP:0001909Leukemia1FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2.147
HP:0004377HP:0002863Myelodysplasia1FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0004377HP:0001909Leukemia1FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E.73
HP:0004377HP:0002863Myelodysplasia1FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040283 - Occasional87
HP:0004377HP:0002863Myelodysplasia1FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0004377HP:0001909Leukemia1FANCG CL E G H21893588OMIM:614082FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG73
HP:0004377HP:0002863Myelodysplasia1FANCG CL E G H21893588OMIM:614082FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG73
HP:0004377HP:0002863Myelodysplasia1FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040283 - Occasional157
HP:0004377HP:0002863Myelodysplasia1FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040283 - Occasional53
HP:0004377HP:0002863Myelodysplasia1FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040283 - Occasional107
HP:0004377HP:0002665Lymphoma1FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndrome59
HP:0004377HP:0002665Lymphoma1FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndrome37
HP:0004377HP:0002665Lymphoma1FCHO1 CL E G H2314929002OMIM:619164IMMUNODEFICIENCY 76; IMD76
HP:0004377HP:0001909Leukemia1FLT3 CL E G H23223765OMIM:613065Leukemia, acute lymphocytic, susceptibility to, 161
HP:0004377HP:0001909Leukemia1FLT3 CL E G H23223765OMIM:601626Leukemia, acute myeloid61
HP:0004377HP:0002665Lymphoma1FOXP1 CL E G H270863823ORPHA:52417MALT lymphoma184
HP:0004377HP:0001909Leukemia1GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemia29
HP:0004377HP:0002863Myelodysplasia1GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional29
HP:0004377HP:0001909Leukemia1GATA1 CL E G H26234170OMIM:190685Down syndrometrisomy 21, included29
HP:0004377HP:0001909Leukemia1GATA2 CL E G H26244171ORPHA:3226Deafness-lymphedema-leukemia syndrome137
HP:0004377HP:0001909Leukemia1GATA2 CL E G H26244171OMIM:614172Immunodeficiency 21137
HP:0004377HP:0002863Myelodysplasia1GATA2 CL E G H26244171OMIM:614172Immunodeficiency 21.137
HP:0004377HP:0001909Leukemia1GATA2 CL E G H26244171OMIM:601626Leukemia, acute myeloid137
HP:0004377HP:0002863Myelodysplasia1GATA2 CL E G H26244171OMIM:614038Lymphedema, primary, with myelodysplasia.137
HP:0004377HP:0001909Leukemia1GATA2 CL E G H26244171OMIM:614038Lymphedema, primary, with myelodysplasia.137
HP:0004377HP:0002863Myelodysplasia1GATA2 CL E G H26244171OMIM:614286Myelodysplastic syndrome.137
HP:0004377HP:0002863Myelodysplasia1GATA2 CL E G H26244171ORPHA:98827Unclassified myelodysplastic syndromeHP:0040281 - Very frequent137
HP:0004377HP:0001909Leukemia1GATA2 CL E G H26244171ORPHA:98827Unclassified myelodysplastic syndrome137
HP:0004377HP:0006775Multiple myeloma1GBA1 CL E G H26294177OMIM:230800Gaucher disease, type I.
HP:0004377HP:0001909Leukemia1GFI1 CL E G H26724237ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional56
HP:0004377HP:0002863Myelodysplasia1GFI1 CL E G H26724237ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional56
HP:0004377HP:0001909Leukemia1GFI1 CL E G H26724237OMIM:607847Neutropenia, nonimmune chronic idiopathic, of adults56
HP:0004377HP:0002863Myelodysplasia1GINS1 CL E G H983728980OMIM:617827Immunodeficiency 55.
HP:0004377HP:0001909Leukemia1GLI1 CL E G H27354317ORPHA:289Ellis Van Creveld syndrome1
HP:0004377HP:0001909Leukemia1GNB1 CL E G H27824396OMIM:613065Leukemia, acute lymphocytic, susceptibility to, 112
HP:0004377HP:0002863Myelodysplasia1GNB1 CL E G H27824396OMIM:614286Myelodysplastic syndrome.12
HP:0004377HP:0001909Leukemia1H4C9 CL E G H82944793OMIM:619951
HP:0004377HP:0002863Myelodysplasia1H4C9 CL E G H82944793OMIM:619951
HP:0004377HP:0002863Myelodysplasia1HAX1 CL E G H1045616915OMIM:610738NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN332
HP:0004377HP:0001909Leukemia1HAX1 CL E G H1045616915OMIM:610738NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN332
HP:0004377HP:0002665Lymphoma1HLA-DQA1 CL E G H31174942OMIM:212750Celiac disease, susceptibility to, 1.
HP:0004377HP:0002665Lymphoma1HLA-DQB1 CL E G H31194944OMIM:212750Celiac disease, susceptibility to, 1.
HP:0004377HP:0002665Lymphoma1HLA-DRB1 CL E G H31234948ORPHA:545Follicular lymphomaHP:0040281 - Very frequent2
HP:0004377HP:0002863Myelodysplasia1HSCB CL E G H15027428913OMIM:619523ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0004377HP:0002863Myelodysplasia1HSPA9 CL E G H33135244OMIM:182170ANEMIA, SIDEROBLASTIC, 4; SIDBA46
HP:0004377HP:0002665Lymphoma1ICOS CL E G H298515351ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional32
HP:0004377HP:0002665Lymphoma1ICOS CL E G H298515351OMIM:240500Immunodeficiency, common variable, 2.32
HP:0004377HP:0001909Leukemia1IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0004377HP:0001909Leukemia1IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndrome28
HP:0004377HP:0002665Lymphoma1IGH CL E G H34925477ORPHA:545Follicular lymphomaHP:0040281 - Very frequent7
HP:0004377HP:0002665Lymphoma1IGH CL E G H34925477ORPHA:52417MALT lymphoma7
HP:0004377HP:0002665Lymphoma1IGH CL E G H34925477ORPHA:52416Mantle cell lymphoma7
HP:0004377HP:0002665Lymphoma1IGHG2 CL E G H35015526ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency1
HP:0004377HP:0002665Lymphoma1IGKC CL E G H35145716ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency5
HP:0004377HP:0001909Leukemia1IKZF1 CL E G H1032013176OMIM:616873IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID138
HP:0004377HP:0002665Lymphoma1IKZF3 CL E G H2280613178OMIM:619437IMMUNODEFICIENCY 84; IMD84
HP:0004377HP:0002665Lymphoma1IL2RG CL E G H35616010ORPHA:39041Omenn syndromeHP:0040283 - Occasional48
HP:0004377HP:0002665Lymphoma1IL2RG CL E G H35616010ORPHA:276T-B+ severe combined immunodeficiency due to gamma chain deficiencyHP:0040284 - Very rare48
HP:0004377HP:0005523Lymphoproliferative disorder1IL2RG CL E G H35616010ORPHA:276T-B+ severe combined immunodeficiency due to gamma chain deficiencyHP:0040284 - Very rare48
HP:0004377HP:0002665Lymphoma1IL7R CL E G H35756024ORPHA:39041Omenn syndromeHP:0040283 - Occasional94
HP:0004377HP:0002665Lymphoma1IRF2BP2 CL E G H35994821729ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional4
HP:0004377HP:0005523Lymphoproliferative disorder1ITK CL E G H37026171OMIM:613011LYMPHOPROLIFERATIVE SYNDROME 1; LPFS151
HP:0004377HP:0002665Lymphoma1ITK CL E G H37026171OMIM:613011LYMPHOPROLIFERATIVE SYNDROME 1; LPFS151
HP:0004377HP:0001909Leukemia1JAK2 CL E G H37176192ORPHA:3318Essential thrombocythemia57
HP:0004377HP:0002863Myelodysplasia1JAK2 CL E G H37176192ORPHA:3318Essential thrombocythemiaHP:0040283 - Occasional57
HP:0004377HP:0001909Leukemia1JAK2 CL E G H37176192ORPHA:71493Familial thrombocytosis57
HP:0004377HP:0002863Myelodysplasia1JAK2 CL E G H37176192ORPHA:71493Familial thrombocytosisHP:0040283 - Occasional57
HP:0004377HP:0001909Leukemia1JAK2 CL E G H37176192OMIM:601626Leukemia, acute myeloid57
HP:0004377HP:0001909Leukemia1JAK2 CL E G H37176192OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included57
HP:0004377HP:0001909Leukemia1JAK2 CL E G H37176192ORPHA:729Polycythemia vera57
HP:0004377HP:0002863Myelodysplasia1JAK2 CL E G H37176192ORPHA:729Polycythemia veraHP:0040281 - Very frequent57
HP:0004377HP:0002665Lymphoma1KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndromeHP:0040283 - Occasional46
HP:0004377HP:0001909Leukemia1KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndromeHP:0040283 - Occasional46
HP:0004377HP:0001909Leukemia1KIT CL E G H38156342OMIM:601626Leukemia, acute myeloid327
HP:0004377HP:0001909Leukemia1KIT CL E G H38156342ORPHA:98849Systemic mastocytosis with associated hematologic neoplasm327
HP:0004377HP:0002665Lymphoma1KIT CL E G H38156342ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional327
HP:0004377HP:0002863Myelodysplasia1KIT CL E G H38156342ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional327
HP:0004377HP:0006775Multiple myeloma1KIT CL E G H38156342ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040284 - Very rare327
HP:0004377HP:0002665Lymphoma1KLHDC8B CL E G H20094228557OMIM:236000Lymphoma, hodgkin1
HP:0004377HP:0001909Leukemia1KRAS CL E G H38456407OMIM:601626Leukemia, acute myeloid196
HP:0004377HP:0001909Leukemia1KRAS CL E G H38456407OMIM:609942Noonan syndrome 3196
HP:0004377HP:0002665Lymphoma1KRAS CL E G H38456407OMIM:614470RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic.196
HP:0004377HP:0005523Lymphoproliferative disorder1KRAS CL E G H38456407OMIM:614470RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic.196
HP:0004377HP:0001909Leukemia1KRAS CL E G H38456407OMIM:614470RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic.196
HP:0004377HP:0001909Leukemia1LIG4 CL E G H39816601ORPHA:235Dubowitz syndrome88
HP:0004377HP:0002665Lymphoma1LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040283 - Occasional88
HP:0004377HP:0002665Lymphoma1LIG4 CL E G H39816601ORPHA:99812LIG4 syndromeHP:0040282 - Frequent88
HP:0004377HP:0001909Leukemia1LIG4 CL E G H39816601ORPHA:99812LIG4 syndrome88
HP:0004377HP:0002863Myelodysplasia1LIG4 CL E G H39816601OMIM:606593Lig4 syndrome.88
HP:0004377HP:0006775Multiple myeloma1LIG4 CL E G H39816601OMIM:254500Multiple myeloma.88
HP:0004377HP:0002665Lymphoma1LIG4 CL E G H39816601ORPHA:39041Omenn syndromeHP:0040283 - Occasional88
HP:0004377HP:0001909Leukemia1LPP CL E G H40266679OMIM:601626Leukemia, acute myeloid1
HP:0004377HP:0002665Lymphoma1LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0004377HP:0005523Lymphoproliferative disorder1LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0004377HP:0001909Leukemia1LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndrome
HP:0004377HP:0001909Leukemia1LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0004377HP:0002863Myelodysplasia1MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040283 - Occasional1
HP:0004377HP:0005523Lymphoproliferative disorder1MAGT1 CL E G H8406128880OMIM:300853IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN17
HP:0004377HP:0002665Lymphoma1MAGT1 CL E G H8406128880OMIM:300853IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN17
HP:0004377HP:0002665Lymphoma1MALT1 CL E G H108926819ORPHA:52417MALT lymphoma6
HP:0004377HP:0001909Leukemia1MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0004377HP:0001909Leukemia1MBD4 CL E G H89306919OMIM:6199751
HP:0004377HP:0005523Lymphoproliferative disorder1MCM4 CL E G H41736947OMIM:609981Immunodeficiency 54.69
HP:0004377HP:0002665Lymphoma1MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndromeHP:0040283 - Occasional1
HP:0004377HP:0002863Myelodysplasia1MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare1
HP:0004377HP:0001909Leukemia1MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndromeHP:0040283 - Occasional1
HP:0004377HP:0001909Leukemia1MEFV CL E G H42106998ORPHA:3243Sweet syndrome281
HP:0004377HP:0002665Lymphoma1MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 11819
HP:0004377HP:0001909Leukemia1MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 11819
HP:0004377HP:0001909Leukemia1MLLT10 CL E G H802816063OMIM:601626Leukemia, acute myeloid
HP:0004377HP:0001909Leukemia1MPL CL E G H43527217ORPHA:3318Essential thrombocythemia97
HP:0004377HP:0002863Myelodysplasia1MPL CL E G H43527217ORPHA:3318Essential thrombocythemiaHP:0040283 - Occasional97
HP:0004377HP:0002863Myelodysplasia1MPL CL E G H43527217ORPHA:71493Familial thrombocytosisHP:0040283 - Occasional97
HP:0004377HP:0001909Leukemia1MPL CL E G H43527217ORPHA:71493Familial thrombocytosis97
HP:0004377HP:0001909Leukemia1MPL CL E G H43527217OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included97
HP:0004377HP:0001909Leukemia1MPL CL E G H43527217ORPHA:729Polycythemia vera97
HP:0004377HP:0002863Myelodysplasia1MPL CL E G H43527217ORPHA:729Polycythemia veraHP:0040281 - Very frequent97
HP:0004377HP:0002665Lymphoma1MS4A1 CL E G H9317315ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional1
HP:0004377HP:0001909Leukemia1MSH2 CL E G H44367325OMIM:619096MISMATCH REPAIR CANCER SYNDROME 2; MMRCS22162
HP:0004377HP:0002665Lymphoma1MSH6 CL E G H29567329OMIM:619097MISMATCH REPAIR CANCER SYNDROME 3; MMRCS32232
HP:0004377HP:0002665Lymphoma1MYC CL E G H46097553OMIM:113970Burkitt lymphoma11
HP:0004377HP:0005523Lymphoproliferative disorder1MYD88 CL E G H46157562OMIM:153600Macroglobulinemia, Waldenstrom, somatic9
HP:0004377HP:0001909Leukemia1MYD88 CL E G H46157562OMIM:153600Macroglobulinemia, Waldenstrom, somaticHP:0040283 - Occasional9
HP:0004377HP:0002665Lymphoma1MYD88 CL E G H46157562OMIM:153600Macroglobulinemia, Waldenstrom, somaticHP:0040283 - Occasional9
HP:0004377HP:0005523Lymphoproliferative disorder1MYD88 CL E G H46157562ORPHA:33226Waldenström macroglobulinemia9
HP:0004377HP:0002665Lymphoma1MYD88 CL E G H46157562ORPHA:33226Waldenström macroglobulinemiaHP:0040281 - Very frequent9
HP:0004377HP:0001909Leukemia1MYD88 CL E G H46157562ORPHA:33226Waldenström macroglobulinemiaHP:0040281 - Very frequent9
HP:0004377HP:0002863Myelodysplasia1MYSM1 CL E G H11480329401ORPHA:508542Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndromeHP:0040282 - Frequent
HP:0004377HP:0002863Myelodysplasia1NAGS CL E G H16241717996ORPHA:927Hyperammonemia due to N-acetylglutamate synthase deficiencyHP:0040284 - Very rare36
HP:0004377HP:0002863Myelodysplasia1NBEAL2 CL E G H2321831928ORPHA:721Gray platelet syndromeHP:0040282 - Frequent127
HP:0004377HP:0001909Leukemia1NBN CL E G H46837652OMIM:613065Leukemia, acute lymphocytic, susceptibility to, 1706
HP:0004377HP:0002665Lymphoma1NBN CL E G H46837652OMIM:251260Nijmegen breakage syndrome.706
HP:0004377HP:0002665Lymphoma1NBN CL E G H46837652ORPHA:647Nijmegen breakage syndromeHP:0040283 - Occasional706
HP:0004377HP:0001909Leukemia1NBN CL E G H46837652ORPHA:647Nijmegen breakage syndrome706
HP:0004377HP:0002863Myelodysplasia1NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040284 - Very rare1952
HP:0004377HP:0001909Leukemia1NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040284 - Very rare1952
HP:0004377HP:0001909Leukemia1NF1 CL E G H47637765OMIM:607785Juvenile myelomonocytic leukemia1952
HP:0004377HP:0002665Lymphoma1NFKB1 CL E G H47907794ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional7
HP:0004377HP:0002665Lymphoma1NFKB2 CL E G H47917795ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional11
HP:0004377HP:0002665Lymphoma1NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional27
HP:0004377HP:0002665Lymphoma1NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional17
HP:0004377HP:0002665Lymphoma1NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional12
HP:0004377HP:0001909Leukemia1NPM1 CL E G H48697910OMIM:601626Leukemia, acute myeloid12
HP:0004377HP:0001909Leukemia1NRAS CL E G H48937989OMIM:613224Noonan syndrome 6102
HP:0004377HP:0001909Leukemia1NRAS CL E G H48937989OMIM:614470RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic.102
HP:0004377HP:0002665Lymphoma1NRAS CL E G H48937989OMIM:614470RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic.102
HP:0004377HP:0005523Lymphoproliferative disorder1NRAS CL E G H48937989OMIM:614470RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic.102
HP:0004377HP:0001909Leukemia1NSD1 CL E G H6432414234ORPHA:821Sotos syndrome544
HP:0004377HP:0001909Leukemia1NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndrome84
HP:0004377HP:0002665Lymphoma1NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040283 - Occasional84
HP:0004377HP:0002665Lymphoma1NTHL1 CL E G H49138028ORPHA:454840NTHL1-related attenuated familial adenomatous polyposis2
HP:0004377HP:0001909Leukemia1NUMA1 CL E G H49268059OMIM:612376Acute promyelocytic leukemia
HP:0004377HP:0001909Leukemia1NUP214 CL E G H80218064OMIM:613065Leukemia, acute lymphocytic, susceptibility to, 11
HP:0004377HP:0001909Leukemia1NUP214 CL E G H80218064OMIM:601626Leukemia, acute myeloid1
HP:0004377HP:0001909Leukemia1NUTM1 CL E G H25664629919ORPHA:443167NUT midline carcinomaHP:0040282 - Frequent
HP:0004377HP:0002863Myelodysplasia1PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040283 - Occasional1349
HP:0004377HP:0002665Lymphoma1PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional26
HP:0004377HP:0001909Leukemia1PDGFRA CL E G H51568803OMIM:607685Hypereosinophilic syndrome, idiopathic337
HP:0004377HP:0006782Malignant eosinophil proliferation1PDGFRB CL E G H51598804OMIM:131440Myeloproliferative disorder, chronic, with eosinophilia.28
HP:0004377HP:0001909Leukemia1PDGFRB CL E G H51598804OMIM:131440Myeloproliferative disorder, chronic, with eosinophilia28
HP:0004377HP:0002665Lymphoma1PGM3 CL E G H52388907OMIM:615816Immunodeficiency 2315
HP:0004377HP:0002665Lymphoma1PGM3 CL E G H52388907ORPHA:443811PGM3-CDGHP:0040283 - Occasional15
HP:0004377HP:0001909Leukemia1PICALM CL E G H830115514OMIM:601626Leukemia, acute myeloid3
HP:0004377HP:0001909Leukemia1PIGL CL E G H94878966ORPHA:3474CHIME syndrome36
HP:0004377HP:0001909Leukemia1PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome36
HP:0004377HP:0001909Leukemia1PIK3CA CL E G H52908975OMIM:602501Megalencephaly-Capillary malformation-polymicrogyria syndrome.162
HP:0004377HP:0002665Lymphoma1PIK3R1 CL E G H52958979OMIM:616005Immunodeficiency 3643
HP:0004377HP:0001909Leukemia1PIK3R1 CL E G H52958979OMIM:616005Immunodeficiency 3643
HP:0004377HP:0002665Lymphoma1PMS2 CL E G H53959122OMIM:619101MISMATCH REPAIR CANCER SYNDROME 4; MMRCS41121
HP:0004377HP:0002665Lymphoma1PNP CL E G H48607892OMIM:613179Immunodeficiency due to purine nucleoside phosphorylase deficiency.52
HP:0004377HP:0002665Lymphoma1POLE CL E G H54269177OMIM:618336Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency1129
HP:0004377HP:0001909Leukemia1POT1 CL E G H2591317284OMIM:616568Glioma susceptibility 9.23
HP:0004377HP:0002665Lymphoma1PRF1 CL E G H55519360OMIM:605027Lymphoma, non-hodgkin, familial.58
HP:0004377HP:0001909Leukemia1PRKACA CL E G H55669380ORPHA:289Ellis Van Creveld syndrome2
HP:0004377HP:0001909Leukemia1PRKACB CL E G H55679381ORPHA:289Ellis Van Creveld syndrome2
HP:0004377HP:0002665Lymphoma1PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndrome10
HP:0004377HP:0005523Lymphoproliferative disorder1PRKCD CL E G H55809399OMIM:615559AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS310
HP:0004377HP:0002665Lymphoma1PRKCD CL E G H55809399ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional10
HP:0004377HP:0002665Lymphoma1PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndromeHP:0040283 - Occasional948
HP:0004377HP:0001909Leukemia1PTPN11 CL E G H57819644OMIM:607785Juvenile myelomonocytic leukemia291
HP:0004377HP:0001909Leukemia1PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1291
HP:0004377HP:0002863Myelodysplasia1PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentiginesHP:0040283 - Occasional291
HP:0004377HP:0002665Lymphoma1PTPRC CL E G H57889666OMIM:61992425
HP:0004377HP:0002863Myelodysplasia1RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040283 - Occasional9
HP:0004377HP:0002863Myelodysplasia1RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040283 - Occasional391
HP:0004377HP:0002665Lymphoma1RAD54B CL E G H2578817228OMIM:605027Lymphoma, non-hodgkin, familial.2
HP:0004377HP:0002665Lymphoma1RAD54L CL E G H84389826OMIM:605027Lymphoma, non-hodgkin, familial.5
HP:0004377HP:0002863Myelodysplasia1RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentiginesHP:0040283 - Occasional212
HP:0004377HP:0002665Lymphoma1RAG1 CL E G H58969831ORPHA:39041Omenn syndromeHP:0040283 - Occasional127
HP:0004377HP:0002665Lymphoma1RAG2 CL E G H58979832ORPHA:39041Omenn syndromeHP:0040283 - Occasional50
HP:0004377