Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001909	HP:0001909	Leukemia	0	ABL1 CL E G H	25	76	ORPHA:521	Chronic myeloid leukemia		51
HP:0001909	HP:0001909	Leukemia	0	ABL1 CL E G H	25	76	OMIM:608232	Leukemia, chronic myeloid		51
HP:0001909	HP:0001909	Leukemia	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001909	HP:0001909	Leukemia	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome		116
HP:0001909	HP:0001909	Leukemia	0	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0001909	HP:0001909	Leukemia	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency		62
HP:0001909	HP:0001909	Leukemia	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040284 - Very rare	2
HP:0001909	HP:0001909	Leukemia	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare	3179
HP:0001909	HP:0001909	Leukemia	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0001909	HP:0001909	Leukemia	0	ARHGAP26 CL E G H	23092	17073	OMIM:607785	Juvenile myelomonocytic leukemia		12
HP:0001909	HP:0001909	Leukemia	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	145
HP:0001909	HP:0001909	Leukemia	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0001909	HP:0001909	Leukemia	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0001909	HP:0001909	Leukemia	0	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome		169
HP:0001909	HP:0001909	Leukemia	0	BAX CL E G H	581	959	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		4
HP:0001909	HP:0001909	Leukemia	0	BCR CL E G H	613	1014	ORPHA:521	Chronic myeloid leukemia		5
HP:0001909	HP:0001909	Leukemia	0	BCR CL E G H	613	1014	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		5
HP:0001909	HP:0001909	Leukemia	0	BCR CL E G H	613	1014	OMIM:608232	Leukemia, chronic myeloid		5
HP:0001909	HP:0001909	Leukemia	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0001909	HP:0001909	Leukemia	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.	314
HP:0001909	HP:0001909	Leukemia	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0001909	HP:0001909	Leukemia	0	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0001909	HP:0001909	Leukemia	0	BRD4 CL E G H	23476	13575	ORPHA:443167	NUT midline carcinoma	HP:0040282 - Frequent
HP:0001909	HP:0001909	Leukemia	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0001909	HP:0001909	Leukemia	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0001909	HP:0001909	Leukemia	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0001909	HP:0001909	Leukemia	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0001909	HP:0001909	Leukemia	0	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia		1
HP:0001909	HP:0001909	Leukemia	0	CALR CL E G H	811	1455	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		1
HP:0001909	HP:0001909	Leukemia	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	317
HP:0001909	HP:0001909	Leukemia	0	CBL CL E G H	867	1541	OMIM:607785	Juvenile myelomonocytic leukemia		317
HP:0001909	HP:0001909	Leukemia	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia		317
HP:0001909	HP:0001909	Leukemia	0	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	289
HP:0001909	HP:0001909	Leukemia	0	CEBPA CL E G H	1050	1833	OMIM:601626	Leukemia, acute myeloid		65
HP:0001909	HP:0001909	Leukemia	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0001909	HP:0001909	Leukemia	0	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	833
HP:0001909	HP:0001909	Leukemia	0	CHIC2 CL E G H	26511	1935	OMIM:601626	Leukemia, acute myeloid
HP:0001909	HP:0001909	Leukemia	0	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	38
HP:0001909	HP:0001909	Leukemia	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1	.	291
HP:0001909	HP:0001909	Leukemia	0	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to		23
HP:0001909	HP:0001909	Leukemia	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0001909	HP:0001909	Leukemia	0	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3		5
HP:0001909	HP:0001909	Leukemia	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	5
HP:0001909	HP:0001909	Leukemia	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0001909	HP:0001909	Leukemia	0	DNMT3A CL E G H	1788	2978	OMIM:601626	Leukemia, acute myeloid		44
HP:0001909	HP:0001909	Leukemia	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome		44
HP:0001909	HP:0001909	Leukemia	0	DUT CL E G H	1854	3078	OMIM:620044
HP:0001909	HP:0001909	Leukemia	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome		7
HP:0001909	HP:0001909	Leukemia	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	1
HP:0001909	HP:0001909	Leukemia	0	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	79
HP:0001909	HP:0001909	Leukemia	0	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0001909	HP:0001909	Leukemia	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1	.	250
HP:0001909	HP:0001909	Leukemia	0	ERBB3 CL E G H	2065	3431	OMIM:133180	Erythroleukemia, familial, susceptibility to	.	12
HP:0001909	HP:0001909	Leukemia	0	ETV6 CL E G H	2120	3495	OMIM:601626	Leukemia, acute myeloid		13
HP:0001909	HP:0001909	Leukemia	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome		209
HP:0001909	HP:0001909	Leukemia	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome		137
HP:0001909	HP:0001909	Leukemia	0	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency		60
HP:0001909	HP:0001909	Leukemia	0	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency		32
HP:0001909	HP:0001909	Leukemia	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.	340
HP:0001909	HP:0001909	Leukemia	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C	.	410
HP:0001909	HP:0001909	Leukemia	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2	.	147
HP:0001909	HP:0001909	Leukemia	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.	73
HP:0001909	HP:0001909	Leukemia	0	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG		73
HP:0001909	HP:0001909	Leukemia	0	FLT3 CL E G H	2322	3765	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		61
HP:0001909	HP:0001909	Leukemia	0	FLT3 CL E G H	2322	3765	OMIM:601626	Leukemia, acute myeloid		61
HP:0001909	HP:0001909	Leukemia	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0001909	HP:0001909	Leukemia	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0001909	HP:0001909	Leukemia	0	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome		137
HP:0001909	HP:0001909	Leukemia	0	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21		137
HP:0001909	HP:0001909	Leukemia	0	GATA2 CL E G H	2624	4171	OMIM:601626	Leukemia, acute myeloid		137
HP:0001909	HP:0001909	Leukemia	0	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia	.	137
HP:0001909	HP:0001909	Leukemia	0	GATA2 CL E G H	2624	4171	ORPHA:98827	Unclassified myelodysplastic syndrome		137
HP:0001909	HP:0001909	Leukemia	0	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	56
HP:0001909	HP:0001909	Leukemia	0	GFI1 CL E G H	2672	4237	OMIM:607847	Neutropenia, nonimmune chronic idiopathic, of adults		56
HP:0001909	HP:0001909	Leukemia	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome		1
HP:0001909	HP:0001909	Leukemia	0	GNB1 CL E G H	2782	4396	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		12
HP:0001909	HP:0001909	Leukemia	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0001909	HP:0001909	Leukemia	0	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3		32
HP:0001909	HP:0001909	Leukemia	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0001909	HP:0001909	Leukemia	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome		28
HP:0001909	HP:0001909	Leukemia	0	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0001909	HP:0001909	Leukemia	0	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia		57
HP:0001909	HP:0001909	Leukemia	0	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis		57
HP:0001909	HP:0001909	Leukemia	0	JAK2 CL E G H	3717	6192	OMIM:601626	Leukemia, acute myeloid		57
HP:0001909	HP:0001909	Leukemia	0	JAK2 CL E G H	3717	6192	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		57
HP:0001909	HP:0001909	Leukemia	0	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera		57
HP:0001909	HP:0001909	Leukemia	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional	46
HP:0001909	HP:0001909	Leukemia	0	KIT CL E G H	3815	6342	OMIM:601626	Leukemia, acute myeloid		327
HP:0001909	HP:0001909	Leukemia	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0001909	HP:0001909	Leukemia	0	KRAS CL E G H	3845	6407	OMIM:601626	Leukemia, acute myeloid		196
HP:0001909	HP:0001909	Leukemia	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0001909	HP:0001909	Leukemia	0	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	196
HP:0001909	HP:0001909	Leukemia	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0001909	HP:0001909	Leukemia	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome		88
HP:0001909	HP:0001909	Leukemia	0	LPP CL E G H	4026	6679	OMIM:601626	Leukemia, acute myeloid		1
HP:0001909	HP:0001909	Leukemia	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0001909	HP:0001909	Leukemia	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0001909	HP:0001909	Leukemia	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0001909	HP:0001909	Leukemia	0	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0001909	HP:0001909	Leukemia	0	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	1
HP:0001909	HP:0001909	Leukemia	0	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome		281
HP:0001909	HP:0001909	Leukemia	0	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0001909	HP:0001909	Leukemia	0	MLLT10 CL E G H	8028	16063	OMIM:601626	Leukemia, acute myeloid
HP:0001909	HP:0001909	Leukemia	0	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia		97
HP:0001909	HP:0001909	Leukemia	0	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis		97
HP:0001909	HP:0001909	Leukemia	0	MPL CL E G H	4352	7217	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		97
HP:0001909	HP:0001909	Leukemia	0	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera		97
HP:0001909	HP:0001909	Leukemia	0	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2		2162
HP:0001909	HP:0001909	Leukemia	0	MYD88 CL E G H	4615	7562	OMIM:153600	Macroglobulinemia, Waldenstrom, somatic	HP:0040283 - Occasional	9
HP:0001909	HP:0001909	Leukemia	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040281 - Very frequent	9
HP:0001909	HP:0001909	Leukemia	0	NBN CL E G H	4683	7652	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		706
HP:0001909	HP:0001909	Leukemia	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome		706
HP:0001909	HP:0001909	Leukemia	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040284 - Very rare	1952
HP:0001909	HP:0001909	Leukemia	0	NF1 CL E G H	4763	7765	OMIM:607785	Juvenile myelomonocytic leukemia		1952
HP:0001909	HP:0001909	Leukemia	0	NPM1 CL E G H	4869	7910	OMIM:601626	Leukemia, acute myeloid		12
HP:0001909	HP:0001909	Leukemia	0	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6		102
HP:0001909	HP:0001909	Leukemia	0	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	102
HP:0001909	HP:0001909	Leukemia	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0001909	HP:0001909	Leukemia	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0001909	HP:0001909	Leukemia	0	NUMA1 CL E G H	4926	8059	OMIM:612376	Acute promyelocytic leukemia
HP:0001909	HP:0001909	Leukemia	0	NUP214 CL E G H	8021	8064	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		1
HP:0001909	HP:0001909	Leukemia	0	NUP214 CL E G H	8021	8064	OMIM:601626	Leukemia, acute myeloid		1
HP:0001909	HP:0001909	Leukemia	0	NUTM1 CL E G H	256646	29919	ORPHA:443167	NUT midline carcinoma	HP:0040282 - Frequent
HP:0001909	HP:0001909	Leukemia	0	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic		337
HP:0001909	HP:0001909	Leukemia	0	PDGFRB CL E G H	5159	8804	OMIM:131440	Myeloproliferative disorder, chronic, with eosinophilia		28
HP:0001909	HP:0001909	Leukemia	0	PICALM CL E G H	8301	15514	OMIM:601626	Leukemia, acute myeloid		3
HP:0001909	HP:0001909	Leukemia	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome		36
HP:0001909	HP:0001909	Leukemia	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0001909	HP:0001909	Leukemia	0	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome	.	162
HP:0001909	HP:0001909	Leukemia	0	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0001909	HP:0001909	Leukemia	0	POT1 CL E G H	25913	17284	OMIM:616568	Glioma susceptibility 9	.	23
HP:0001909	HP:0001909	Leukemia	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0001909	HP:0001909	Leukemia	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0001909	HP:0001909	Leukemia	0	PTPN11 CL E G H	5781	9644	OMIM:607785	Juvenile myelomonocytic leukemia		291
HP:0001909	HP:0001909	Leukemia	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0001909	HP:0001909	Leukemia	0	RARA CL E G H	5914	9864	OMIM:612376	Acute promyelocytic leukemia		2
HP:0001909	HP:0001909	Leukemia	0	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA	.	365
HP:0001909	HP:0001909	Leukemia	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040284 - Very rare	445
HP:0001909	HP:0001909	Leukemia	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome		33
HP:0001909	HP:0001909	Leukemia	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome		34
HP:0001909	HP:0001909	Leukemia	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome		60
HP:0001909	HP:0001909	Leukemia	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0001909	HP:0001909	Leukemia	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001909	HP:0001909	Leukemia	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001909	HP:0001909	Leukemia	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001909	HP:0001909	Leukemia	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001909	HP:0001909	Leukemia	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001909	HP:0001909	Leukemia	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001909	HP:0001909	Leukemia	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001909	HP:0001909	Leukemia	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0001909	HP:0001909	Leukemia	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0001909	HP:0001909	Leukemia	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0001909	HP:0001909	Leukemia	0	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
HP:0001909	HP:0001909	Leukemia	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001909	HP:0001909	Leukemia	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0001909	HP:0001909	Leukemia	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0001909	HP:0001909	Leukemia	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001909	HP:0001909	Leukemia	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001909	HP:0001909	Leukemia	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0001909	HP:0001909	Leukemia	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001909	HP:0001909	Leukemia	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001909	HP:0001909	Leukemia	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001909	HP:0001909	Leukemia	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0001909	HP:0001909	Leukemia	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	181
HP:0001909	HP:0001909	Leukemia	0	RUNX1 CL E G H	861	10471	ORPHA:521	Chronic myeloid leukemia		181
HP:0001909	HP:0001909	Leukemia	0	RUNX1 CL E G H	861	10471	OMIM:601626	Leukemia, acute myeloid		181
HP:0001909	HP:0001909	Leukemia	0	RUNX1 CL E G H	861	10471	OMIM:601399	Platelet disorder, familial, with associated myeloid malignancy		181
HP:0001909	HP:0001909	Leukemia	0	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0001909	HP:0001909	Leukemia	0	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome		4
HP:0001909	HP:0001909	Leukemia	0	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome		4
HP:0001909	HP:0001909	Leukemia	0	SAMD9L CL E G H	219285	1349	OMIM:252270	Myelodysplasia and leukemia syndrome with monosomy 7		4
HP:0001909	HP:0001909	Leukemia	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome		55
HP:0001909	HP:0001909	Leukemia	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	26
HP:0001909	HP:0001909	Leukemia	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0001909	HP:0001909	Leukemia	0	SCN10A CL E G H	6336	10582	ORPHA:90026	Primary erythromelalgia	HP:0040283 - Occasional	146
HP:0001909	HP:0001909	Leukemia	0	SCN11A CL E G H	11280	10583	ORPHA:90026	Primary erythromelalgia	HP:0040283 - Occasional	19
HP:0001909	HP:0001909	Leukemia	0	SCN9A CL E G H	6335	10597	ORPHA:90026	Primary erythromelalgia	HP:0040283 - Occasional	318
HP:0001909	HP:0001909	Leukemia	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0001909	HP:0001909	Leukemia	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0001909	HP:0001909	Leukemia	0	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia		19
HP:0001909	HP:0001909	Leukemia	0	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia		4
HP:0001909	HP:0001909	Leukemia	0	SH2B3 CL E G H	10019	29605	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		4
HP:0001909	HP:0001909	Leukemia	0	SH3GL1 CL E G H	6455	10830	OMIM:601626	Leukemia, acute myeloid
HP:0001909	HP:0001909	Leukemia	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B		164
HP:0001909	HP:0001909	Leukemia	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0001909	HP:0001909	Leukemia	0	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional
HP:0001909	HP:0001909	Leukemia	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional
HP:0001909	HP:0001909	Leukemia	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0001909	HP:0001909	Leukemia	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	1
HP:0001909	HP:0001909	Leukemia	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0001909	HP:0001909	Leukemia	0	STS CL E G H	412	11425	ORPHA:281090	Syndromic recessive X-linked ichthyosis		19
HP:0001909	HP:0001909	Leukemia	0	TAL1 CL E G H	6886	11556	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1
HP:0001909	HP:0001909	Leukemia	0	TAL2 CL E G H	6887	11557	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1
HP:0001909	HP:0001909	Leukemia	0	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0001909	HP:0001909	Leukemia	0	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	82
HP:0001909	HP:0001909	Leukemia	0	TERC CL E G H	7012	11727	OMIM:614743	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2	.	48
HP:0001909	HP:0001909	Leukemia	0	TERT CL E G H	7015	11730	OMIM:601626	Leukemia, acute myeloid		238
HP:0001909	HP:0001909	Leukemia	0	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1		238
HP:0001909	HP:0001909	Leukemia	0	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia		3
HP:0001909	HP:0001909	Leukemia	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	3
HP:0001909	HP:0001909	Leukemia	0	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia		3
HP:0001909	HP:0001909	Leukemia	0	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera		3
HP:0001909	HP:0001909	Leukemia	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0001909	HP:0001909	Leukemia	0	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis		23
HP:0001909	HP:0001909	Leukemia	0	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia		911
HP:0001909	HP:0001909	Leukemia	0	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome		911
HP:0001909	HP:0001909	Leukemia	0	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	911
HP:0001909	HP:0001909	Leukemia	0	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease		31
HP:0001909	HP:0001909	Leukemia	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome		56
HP:0001909	HP:0001909	Leukemia	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0001909	HP:0001909	Leukemia	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001909	HP:0001909	Leukemia	0	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease		22
HP:0001909	HP:0001909	Leukemia	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome		65
HP:0001909	HP:0001909	Leukemia	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome		6
HP:0001909	HP:0001909	Leukemia	0	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome		9
HP:0001909	HP:0005526	Lymphoid leukemia	1	CL E G H
HP:0001909	HP:0005547	Myeloproliferative disorder	1	ABL1 CL E G H	25	76	ORPHA:521	Chronic myeloid leukemia	HP:0040280 - Obligate	51
HP:0001909	HP:0002488	Acute leukemia	1	ABL1 CL E G H	25	76	OMIM:608232	Leukemia, chronic myeloid		51
HP:0001909	HP:0005558	Chronic leukemia	1	ABL1 CL E G H	25	76	OMIM:608232	Leukemia, chronic myeloid		51
HP:0001909	HP:0002488	Acute leukemia	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001909	HP:0005558	Chronic leukemia	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome		116
HP:0001909	HP:0002488	Acute leukemia	1	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0001909	HP:0005547	Myeloproliferative disorder	1	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional	62
HP:0001909	HP:0002488	Acute leukemia	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0001909	HP:0012324	Myeloid leukemia	1	ARHGAP26 CL E G H	23092	17073	OMIM:607785	Juvenile myelomonocytic leukemia		12
HP:0001909	HP:0012324	Myeloid leukemia	1	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040281 - Very frequent	145
HP:0001909	HP:0002488	Acute leukemia	1	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0001909	HP:0005558	Chronic leukemia	1	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0001909	HP:0005547	Myeloproliferative disorder	1	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	145
HP:0001909	HP:0002488	Acute leukemia	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0001909	HP:0002488	Acute leukemia	1	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome	HP:0040283 - Occasional	169
HP:0001909	HP:0002488	Acute leukemia	1	BAX CL E G H	581	959	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		4
HP:0001909	HP:0005547	Myeloproliferative disorder	1	BCR CL E G H	613	1014	ORPHA:521	Chronic myeloid leukemia	HP:0040280 - Obligate	5
HP:0001909	HP:0002488	Acute leukemia	1	BCR CL E G H	613	1014	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		5
HP:0001909	HP:0002488	Acute leukemia	1	BCR CL E G H	613	1014	OMIM:608232	Leukemia, chronic myeloid		5
HP:0001909	HP:0005558	Chronic leukemia	1	BCR CL E G H	613	1014	OMIM:608232	Leukemia, chronic myeloid		5
HP:0001909	HP:0002488	Acute leukemia	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0001909	HP:0012324	Myeloid leukemia	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0001909	HP:0002488	Acute leukemia	1	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0001909	HP:0002488	Acute leukemia	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0001909	HP:0002488	Acute leukemia	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0001909	HP:0002488	Acute leukemia	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0001909	HP:0002488	Acute leukemia	1	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia	HP:0040283 - Occasional	1
HP:0001909	HP:0005547	Myeloproliferative disorder	1	CALR CL E G H	811	1455	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		1
HP:0001909	HP:0012324	Myeloid leukemia	1	CBL CL E G H	867	1541	OMIM:607785	Juvenile myelomonocytic leukemia		317
HP:0001909	HP:0012324	Myeloid leukemia	1	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia		317
HP:0001909	HP:0002488	Acute leukemia	1	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome		289
HP:0001909	HP:0002488	Acute leukemia	1	CEBPA CL E G H	1050	1833	OMIM:601626	Leukemia, acute myeloid		65
HP:0001909	HP:0002488	Acute leukemia	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0001909	HP:0002488	Acute leukemia	1	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome		833
HP:0001909	HP:0002488	Acute leukemia	1	CHIC2 CL E G H	26511	1935	OMIM:601626	Leukemia, acute myeloid
HP:0001909	HP:0002488	Acute leukemia	1	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0001909	HP:0002488	Acute leukemia	1	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to		23
HP:0001909	HP:0002488	Acute leukemia	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0001909	HP:0002488	Acute leukemia	1	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3		5
HP:0001909	HP:0002488	Acute leukemia	1	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome		5
HP:0001909	HP:0002488	Acute leukemia	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0001909	HP:0002488	Acute leukemia	1	DNMT3A CL E G H	1788	2978	OMIM:601626	Leukemia, acute myeloid		44
HP:0001909	HP:0012324	Myeloid leukemia	1	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040284 - Very rare	44
HP:0001909	HP:0002488	Acute leukemia	1	DUT CL E G H	1854	3078	OMIM:620044
HP:0001909	HP:0002488	Acute leukemia	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	7
HP:0001909	HP:0002488	Acute leukemia	1	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome		1
HP:0001909	HP:0002488	Acute leukemia	1	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0001909	HP:0002488	Acute leukemia	1	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0001909	HP:0002488	Acute leukemia	1	ERBB3 CL E G H	2065	3431	OMIM:133180	Erythroleukemia, familial, susceptibility to		12
HP:0001909	HP:0002488	Acute leukemia	1	ETV6 CL E G H	2120	3495	OMIM:601626	Leukemia, acute myeloid		13
HP:0001909	HP:0002488	Acute leukemia	1	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	209
HP:0001909	HP:0002488	Acute leukemia	1	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	137
HP:0001909	HP:0012324	Myeloid leukemia	1	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency	HP:0040284 - Very rare	60
HP:0001909	HP:0012324	Myeloid leukemia	1	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency	HP:0040284 - Very rare	32
HP:0001909	HP:0002488	Acute leukemia	1	FLT3 CL E G H	2322	3765	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		61
HP:0001909	HP:0002488	Acute leukemia	1	FLT3 CL E G H	2322	3765	OMIM:601626	Leukemia, acute myeloid		61
HP:0001909	HP:0002488	Acute leukemia	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0001909	HP:0005547	Myeloproliferative disorder	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0001909	HP:0002488	Acute leukemia	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0001909	HP:0005547	Myeloproliferative disorder	1	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040283 - Occasional	137
HP:0001909	HP:0002488	Acute leukemia	1	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040281 - Very frequent	137
HP:0001909	HP:0012324	Myeloid leukemia	1	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21	.	137
HP:0001909	HP:0002488	Acute leukemia	1	GATA2 CL E G H	2624	4171	OMIM:601626	Leukemia, acute myeloid		137
HP:0001909	HP:0002488	Acute leukemia	1	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia		137
HP:0001909	HP:0002488	Acute leukemia	1	GATA2 CL E G H	2624	4171	ORPHA:98827	Unclassified myelodysplastic syndrome		137
HP:0001909	HP:0002488	Acute leukemia	1	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0001909	HP:0002488	Acute leukemia	1	GFI1 CL E G H	2672	4237	OMIM:607847	Neutropenia, nonimmune chronic idiopathic, of adults		56
HP:0001909	HP:0002488	Acute leukemia	1	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	1
HP:0001909	HP:0002488	Acute leukemia	1	GNB1 CL E G H	2782	4396	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		12
HP:0001909	HP:0002488	Acute leukemia	1	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3		32
HP:0001909	HP:0012324	Myeloid leukemia	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0001909	HP:0002488	Acute leukemia	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0001909	HP:0005558	Chronic leukemia	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome		28
HP:0001909	HP:0002488	Acute leukemia	1	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0001909	HP:0002488	Acute leukemia	1	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia	HP:0040283 - Occasional	57
HP:0001909	HP:0002488	Acute leukemia	1	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis		57
HP:0001909	HP:0005558	Chronic leukemia	1	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis		57
HP:0001909	HP:0002488	Acute leukemia	1	JAK2 CL E G H	3717	6192	OMIM:601626	Leukemia, acute myeloid		57
HP:0001909	HP:0005547	Myeloproliferative disorder	1	JAK2 CL E G H	3717	6192	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		57
HP:0001909	HP:0002488	Acute leukemia	1	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent	57
HP:0001909	HP:0002488	Acute leukemia	1	KIT CL E G H	3815	6342	OMIM:601626	Leukemia, acute myeloid		327
HP:0001909	HP:0005558	Chronic leukemia	1	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0001909	HP:0002488	Acute leukemia	1	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0001909	HP:0012324	Myeloid leukemia	1	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040281 - Very frequent	327
HP:0001909	HP:0005547	Myeloproliferative disorder	1	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	327
HP:0001909	HP:0002488	Acute leukemia	1	KRAS CL E G H	3845	6407	OMIM:601626	Leukemia, acute myeloid		196
HP:0001909	HP:0012324	Myeloid leukemia	1	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0001909	HP:0002488	Acute leukemia	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0001909	HP:0002488	Acute leukemia	1	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent	88
HP:0001909	HP:0002488	Acute leukemia	1	LPP CL E G H	4026	6679	OMIM:601626	Leukemia, acute myeloid		1
HP:0001909	HP:0005558	Chronic leukemia	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0001909	HP:0012324	Myeloid leukemia	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0001909	HP:0002488	Acute leukemia	1	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0001909	HP:0002488	Acute leukemia	1	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome		1
HP:0001909	HP:0002488	Acute leukemia	1	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome		281
HP:0001909	HP:0005558	Chronic leukemia	1	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome		281
HP:0001909	HP:0002488	Acute leukemia	1	MLLT10 CL E G H	8028	16063	OMIM:601626	Leukemia, acute myeloid
HP:0001909	HP:0002488	Acute leukemia	1	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia	HP:0040283 - Occasional	97
HP:0001909	HP:0005558	Chronic leukemia	1	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis		97
HP:0001909	HP:0002488	Acute leukemia	1	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis		97
HP:0001909	HP:0005547	Myeloproliferative disorder	1	MPL CL E G H	4352	7217	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		97
HP:0001909	HP:0002488	Acute leukemia	1	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent	97
HP:0001909	HP:0002488	Acute leukemia	1	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2		2162
HP:0001909	HP:0002488	Acute leukemia	1	NBN CL E G H	4683	7652	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		706
HP:0001909	HP:0002488	Acute leukemia	1	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040283 - Occasional	706
HP:0001909	HP:0012324	Myeloid leukemia	1	NF1 CL E G H	4763	7765	OMIM:607785	Juvenile myelomonocytic leukemia		1952
HP:0001909	HP:0002488	Acute leukemia	1	NPM1 CL E G H	4869	7910	OMIM:601626	Leukemia, acute myeloid		12
HP:0001909	HP:0012324	Myeloid leukemia	1	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6		102
HP:0001909	HP:0002488	Acute leukemia	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0001909	HP:0002488	Acute leukemia	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0001909	HP:0002488	Acute leukemia	1	NUMA1 CL E G H	4926	8059	OMIM:612376	Acute promyelocytic leukemia
HP:0001909	HP:0002488	Acute leukemia	1	NUP214 CL E G H	8021	8064	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		1
HP:0001909	HP:0002488	Acute leukemia	1	NUP214 CL E G H	8021	8064	OMIM:601626	Leukemia, acute myeloid		1
HP:0001909	HP:0005547	Myeloproliferative disorder	1	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic	.	337
HP:0001909	HP:0005547	Myeloproliferative disorder	1	PDGFRB CL E G H	5159	8804	OMIM:131440	Myeloproliferative disorder, chronic, with eosinophilia	.	28
HP:0001909	HP:0002488	Acute leukemia	1	PICALM CL E G H	8301	15514	OMIM:601626	Leukemia, acute myeloid		3
HP:0001909	HP:0002488	Acute leukemia	1	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040283 - Occasional	36
HP:0001909	HP:0002488	Acute leukemia	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0001909	HP:0005558	Chronic leukemia	1	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0001909	HP:0002488	Acute leukemia	1	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	2
HP:0001909	HP:0002488	Acute leukemia	1	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	2
HP:0001909	HP:0012324	Myeloid leukemia	1	PTPN11 CL E G H	5781	9644	OMIM:607785	Juvenile myelomonocytic leukemia		291
HP:0001909	HP:0012324	Myeloid leukemia	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0001909	HP:0002488	Acute leukemia	1	RARA CL E G H	5914	9864	OMIM:612376	Acute promyelocytic leukemia		2
HP:0001909	HP:0005558	Chronic leukemia	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome		33
HP:0001909	HP:0005558	Chronic leukemia	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome		34
HP:0001909	HP:0005558	Chronic leukemia	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome		60
HP:0001909	HP:0005558	Chronic leukemia	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0001909	HP:0002488	Acute leukemia	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001909	HP:0002488	Acute leukemia	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001909	HP:0002488	Acute leukemia	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001909	HP:0002488	Acute leukemia	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001909	HP:0002488	Acute leukemia	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001909	HP:0002488	Acute leukemia	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001909	HP:0002488	Acute leukemia	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001909	HP:0002488	Acute leukemia	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0001909	HP:0002488	Acute leukemia	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0001909	HP:0002488	Acute leukemia	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0001909	HP:0002488	Acute leukemia	1	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
HP:0001909	HP:0002488	Acute leukemia	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001909	HP:0002488	Acute leukemia	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0001909	HP:0002488	Acute leukemia	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0001909	HP:0002488	Acute leukemia	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001909	HP:0002488	Acute leukemia	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0001909	HP:0002488	Acute leukemia	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0001909	HP:0002488	Acute leukemia	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001909	HP:0002488	Acute leukemia	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001909	HP:0002488	Acute leukemia	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0001909	HP:0002488	Acute leukemia	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0001909	HP:0005547	Myeloproliferative disorder	1	RUNX1 CL E G H	861	10471	ORPHA:521	Chronic myeloid leukemia	HP:0040280 - Obligate	181
HP:0001909	HP:0002488	Acute leukemia	1	RUNX1 CL E G H	861	10471	OMIM:601626	Leukemia, acute myeloid		181
HP:0001909	HP:0002488	Acute leukemia	1	RUNX1 CL E G H	861	10471	OMIM:601399	Platelet disorder, familial, with associated myeloid malignancy		181
HP:0001909	HP:0002488	Acute leukemia	1	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0001909	HP:0012324	Myeloid leukemia	1	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome		4
HP:0001909	HP:0002488	Acute leukemia	1	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome		4
HP:0001909	HP:0012324	Myeloid leukemia	1	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome		4
HP:0001909	HP:0002488	Acute leukemia	1	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome		4
HP:0001909	HP:0002488	Acute leukemia	1	SAMD9L CL E G H	219285	1349	OMIM:252270	Myelodysplasia and leukemia syndrome with monosomy 7		4
HP:0001909	HP:0005558	Chronic leukemia	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome		55
HP:0001909	HP:0002488	Acute leukemia	1	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome		26
HP:0001909	HP:0002488	Acute leukemia	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0001909	HP:0012324	Myeloid leukemia	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare	143
HP:0001909	HP:0002488	Acute leukemia	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0001909	HP:0002488	Acute leukemia	1	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia		19
HP:0001909	HP:0002488	Acute leukemia	1	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia	HP:0040283 - Occasional	4
HP:0001909	HP:0005547	Myeloproliferative disorder	1	SH2B3 CL E G H	10019	29605	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included		4
HP:0001909	HP:0002488	Acute leukemia	1	SH3GL1 CL E G H	6455	10830	OMIM:601626	Leukemia, acute myeloid
HP:0001909	HP:0002488	Acute leukemia	1	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B		164
HP:0001909	HP:0002488	Acute leukemia	1	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0001909	HP:0002488	Acute leukemia	1	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0001909	HP:0002488	Acute leukemia	1	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0001909	HP:0002488	Acute leukemia	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0001909	HP:0012324	Myeloid leukemia	1	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040281 - Very frequent	1
HP:0001909	HP:0002488	Acute leukemia	1	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0001909	HP:0005547	Myeloproliferative disorder	1	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	1
HP:0001909	HP:0005558	Chronic leukemia	1	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0001909	HP:0002488	Acute leukemia	1	STS CL E G H	412	11425	ORPHA:281090	Syndromic recessive X-linked ichthyosis	HP:0040283 - Occasional	19
HP:0001909	HP:0002488	Acute leukemia	1	TAL1 CL E G H	6886	11556	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1
HP:0001909	HP:0002488	Acute leukemia	1	TAL2 CL E G H	6887	11557	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1
HP:0001909	HP:0002488	Acute leukemia	1	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0001909	HP:0002488	Acute leukemia	1	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0001909	HP:0012324	Myeloid leukemia	1	TERC CL E G H	7012	11727	OMIM:614743	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2	.	48
HP:0001909	HP:0002488	Acute leukemia	1	TERT CL E G H	7015	11730	OMIM:601626	Leukemia, acute myeloid		238
HP:0001909	HP:0012324	Myeloid leukemia	1	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1		238
HP:0001909	HP:0002488	Acute leukemia	1	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia		3
HP:0001909	HP:0002488	Acute leukemia	1	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia	HP:0040283 - Occasional	3
HP:0001909	HP:0002488	Acute leukemia	1	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent	3
HP:0001909	HP:0005547	Myeloproliferative disorder	1	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent	3
HP:0001909	HP:0012324	Myeloid leukemia	1	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040281 - Very frequent	3
HP:0001909	HP:0005558	Chronic leukemia	1	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0001909	HP:0002488	Acute leukemia	1	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0001909	HP:0005558	Chronic leukemia	1	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis		23
HP:0001909	HP:0002488	Acute leukemia	1	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis		23
HP:0001909	HP:0002488	Acute leukemia	1	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia	HP:0040283 - Occasional	911
HP:0001909	HP:0002488	Acute leukemia	1	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome		911
HP:0001909	HP:0002488	Acute leukemia	1	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome	.	911
HP:0001909	HP:0002488	Acute leukemia	1	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease	HP:0040283 - Occasional	31
HP:0001909	HP:0005558	Chronic leukemia	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome		56
HP:0001909	HP:0002488	Acute leukemia	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0001909	HP:0002488	Acute leukemia	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0001909	HP:0002488	Acute leukemia	1	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease	HP:0040283 - Occasional	22
HP:0001909	HP:0005558	Chronic leukemia	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	65
HP:0001909	HP:0002488	Acute leukemia	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	65
HP:0001909	HP:0002488	Acute leukemia	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	6
HP:0001909	HP:0005558	Chronic leukemia	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	6
HP:0001909	HP:0002488	Acute leukemia	1	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent	9
HP:0001909	HP:0005534	Transient myeloproliferative syndrome	2	CL E G H
HP:0001909	HP:0005531	Biphenotypic acute leukemia	2	CL E G H
HP:0001909	HP:0005539	T cell chronic lymphocytic lymphoma/leukemia	2	CL E G H
HP:0001909	HP:0005506	Chronic myelogenous leukemia	2	ABL1 CL E G H	25	76	OMIM:608232	Leukemia, chronic myeloid	.	51
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	ABL1 CL E G H	25	76	OMIM:608232	Leukemia, chronic myeloid		51
HP:0001909	HP:0004808	Acute myeloid leukemia	2	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0001909	HP:0005550	Chronic lymphatic leukemia	2	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	116
HP:0001909	HP:0004808	Acute myeloid leukemia	2	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0001909	HP:0012209	Juvenile myelomonocytic leukemia	2	ARHGAP26 CL E G H	23092	17073	OMIM:607785	Juvenile myelomonocytic leukemia	.	12
HP:0001909	HP:0012325	Chronic myelomonocytic leukemia	2	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	145
HP:0001909	HP:0004808	Acute myeloid leukemia	2	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	145
HP:0001909	HP:0005550	Chronic lymphatic leukemia	2	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040284 - Very rare	145
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	BAX CL E G H	581	959	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	4
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	BCR CL E G H	613	1014	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	5
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	BCR CL E G H	613	1014	OMIM:608232	Leukemia, chronic myeloid		5
HP:0001909	HP:0005506	Chronic myelogenous leukemia	2	BCR CL E G H	613	1014	OMIM:608232	Leukemia, chronic myeloid	.	5
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional	314
HP:0001909	HP:0004808	Acute myeloid leukemia	2	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional	314
HP:0001909	HP:0012209	Juvenile myelomonocytic leukemia	2	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0001909	HP:0004808	Acute myeloid leukemia	2	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	5
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	76
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0001909	HP:0012209	Juvenile myelomonocytic leukemia	2	CBL CL E G H	867	1541	OMIM:607785	Juvenile myelomonocytic leukemia	.	317
HP:0001909	HP:0012209	Juvenile myelomonocytic leukemia	2	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.	317
HP:0001909	HP:0004808	Acute myeloid leukemia	2	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	289
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	289
HP:0001909	HP:0004808	Acute myeloid leukemia	2	CEBPA CL E G H	1050	1833	OMIM:601626	Leukemia, acute myeloid	.	65
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	17
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	833
HP:0001909	HP:0004808	Acute myeloid leukemia	2	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	833
HP:0001909	HP:0004808	Acute myeloid leukemia	2	CHIC2 CL E G H	26511	1935	OMIM:601626	Leukemia, acute myeloid	.
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	38
HP:0001909	HP:0004808	Acute myeloid leukemia	2	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	38
HP:0001909	HP:0004808	Acute myeloid leukemia	2	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to		23
HP:0001909	HP:0004808	Acute myeloid leukemia	2	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0001909	HP:0004808	Acute myeloid leukemia	2	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	HP:0040283 - Occasional	5
HP:0001909	HP:0004808	Acute myeloid leukemia	2	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	5
HP:0001909	HP:0004808	Acute myeloid leukemia	2	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.	5
HP:0001909	HP:0004808	Acute myeloid leukemia	2	DNMT3A CL E G H	1788	2978	OMIM:601626	Leukemia, acute myeloid	.	44
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	DUT CL E G H	1854	3078	OMIM:620044
HP:0001909	HP:0004808	Acute myeloid leukemia	2	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	1
HP:0001909	HP:0004808	Acute myeloid leukemia	2	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	79
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	79
HP:0001909	HP:0004845	Acute monocytic leukemia	2	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant	.	79
HP:0001909	HP:0004808	Acute myeloid leukemia	2	ERBB3 CL E G H	2065	3431	OMIM:133180	Erythroleukemia, familial, susceptibility to	.	12
HP:0001909	HP:0004808	Acute myeloid leukemia	2	ETV6 CL E G H	2120	3495	OMIM:601626	Leukemia, acute myeloid	.	13
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	FLT3 CL E G H	2322	3765	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	61
HP:0001909	HP:0004808	Acute myeloid leukemia	2	FLT3 CL E G H	2322	3765	OMIM:601626	Leukemia, acute myeloid	.	61
HP:0001909	HP:0004808	Acute myeloid leukemia	2	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	29
HP:0001909	HP:0006733	Acute megakaryocytic leukemia	2	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0001909	HP:0004808	Acute myeloid leukemia	2	GATA2 CL E G H	2624	4171	OMIM:601626	Leukemia, acute myeloid	.	137
HP:0001909	HP:0004808	Acute myeloid leukemia	2	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia		137
HP:0001909	HP:0004808	Acute myeloid leukemia	2	GATA2 CL E G H	2624	4171	ORPHA:98827	Unclassified myelodysplastic syndrome	HP:0040284 - Very rare	137
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	56
HP:0001909	HP:0004808	Acute myeloid leukemia	2	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	56
HP:0001909	HP:0004808	Acute myeloid leukemia	2	GFI1 CL E G H	2672	4237	OMIM:607847	Neutropenia, nonimmune chronic idiopathic, of adults	HP:0040283 - Occasional	56
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	GNB1 CL E G H	2782	4396	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	12
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3		32
HP:0001909	HP:0004820	Acute myelomonocytic leukemia	2	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0001909	HP:0005550	Chronic lymphatic leukemia	2	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	28
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0001909	HP:0005506	Chronic myelogenous leukemia	2	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	57
HP:0001909	HP:0004808	Acute myeloid leukemia	2	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	57
HP:0001909	HP:0004808	Acute myeloid leukemia	2	JAK2 CL E G H	3717	6192	OMIM:601626	Leukemia, acute myeloid	.	57
HP:0001909	HP:0004808	Acute myeloid leukemia	2	KIT CL E G H	3815	6342	OMIM:601626	Leukemia, acute myeloid	.	327
HP:0001909	HP:0004808	Acute myeloid leukemia	2	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	327
HP:0001909	HP:0012325	Chronic myelomonocytic leukemia	2	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	327
HP:0001909	HP:0005550	Chronic lymphatic leukemia	2	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040284 - Very rare	327
HP:0001909	HP:0004808	Acute myeloid leukemia	2	KRAS CL E G H	3845	6407	OMIM:601626	Leukemia, acute myeloid	.	196
HP:0001909	HP:0012209	Juvenile myelomonocytic leukemia	2	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	88
HP:0001909	HP:0004808	Acute myeloid leukemia	2	LPP CL E G H	4026	6679	OMIM:601626	Leukemia, acute myeloid	.	1
HP:0001909	HP:0005550	Chronic lymphatic leukemia	2	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare
HP:0001909	HP:0012209	Juvenile myelomonocytic leukemia	2	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0001909	HP:0004808	Acute myeloid leukemia	2	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0001909	HP:0004808	Acute myeloid leukemia	2	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	1
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	1
HP:0001909	HP:0005550	Chronic lymphatic leukemia	2	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040284 - Very rare	281
HP:0001909	HP:0004808	Acute myeloid leukemia	2	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040283 - Occasional	281
HP:0001909	HP:0004808	Acute myeloid leukemia	2	MLLT10 CL E G H	8028	16063	OMIM:601626	Leukemia, acute myeloid	.
HP:0001909	HP:0005506	Chronic myelogenous leukemia	2	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	97
HP:0001909	HP:0004808	Acute myeloid leukemia	2	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	97
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2		2162
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	NBN CL E G H	4683	7652	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	706
HP:0001909	HP:0012209	Juvenile myelomonocytic leukemia	2	NF1 CL E G H	4763	7765	OMIM:607785	Juvenile myelomonocytic leukemia	.	1952
HP:0001909	HP:0004808	Acute myeloid leukemia	2	NPM1 CL E G H	4869	7910	OMIM:601626	Leukemia, acute myeloid	.	12
HP:0001909	HP:0012209	Juvenile myelomonocytic leukemia	2	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6	.	102
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	84
HP:0001909	HP:0004836	Acute promyelocytic leukemia	2	NUMA1 CL E G H	4926	8059	OMIM:612376	Acute promyelocytic leukemia	.
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	NUP214 CL E G H	8021	8064	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	1
HP:0001909	HP:0004808	Acute myeloid leukemia	2	NUP214 CL E G H	8021	8064	OMIM:601626	Leukemia, acute myeloid	.	1
HP:0001909	HP:0004808	Acute myeloid leukemia	2	PICALM CL E G H	8301	15514	OMIM:601626	Leukemia, acute myeloid	.	3
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0001909	HP:0005550	Chronic lymphatic leukemia	2	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36	HP:0040284 - Very rare	43
HP:0001909	HP:0012209	Juvenile myelomonocytic leukemia	2	PTPN11 CL E G H	5781	9644	OMIM:607785	Juvenile myelomonocytic leukemia	.	291
HP:0001909	HP:0012209	Juvenile myelomonocytic leukemia	2	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0001909	HP:0004836	Acute promyelocytic leukemia	2	RARA CL E G H	5914	9864	OMIM:612376	Acute promyelocytic leukemia	.	2
HP:0001909	HP:0005550	Chronic lymphatic leukemia	2	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	33
HP:0001909	HP:0005550	Chronic lymphatic leukemia	2	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	34
HP:0001909	HP:0005550	Chronic lymphatic leukemia	2	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	60
HP:0001909	HP:0005550	Chronic lymphatic leukemia	2	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare
HP:0001909	HP:0004808	Acute myeloid leukemia	2	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0001909	HP:0004808	Acute myeloid leukemia	2	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0001909	HP:0004808	Acute myeloid leukemia	2	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0001909	HP:0004808	Acute myeloid leukemia	2	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0001909	HP:0004808	Acute myeloid leukemia	2	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0001909	HP:0004808	Acute myeloid leukemia	2	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0001909	HP:0004808	Acute myeloid leukemia	2	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0001909	HP:0004808	Acute myeloid leukemia	2	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	11
HP:0001909	HP:0004808	Acute myeloid leukemia	2	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	40
HP:0001909	HP:0004808	Acute myeloid leukemia	2	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	26
HP:0001909	HP:0004808	Acute myeloid leukemia	2	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	HP:0040283 - Occasional
HP:0001909	HP:0004808	Acute myeloid leukemia	2	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0001909	HP:0004808	Acute myeloid leukemia	2	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	5
HP:0001909	HP:0004808	Acute myeloid leukemia	2	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	42
HP:0001909	HP:0004808	Acute myeloid leukemia	2	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0001909	HP:0004808	Acute myeloid leukemia	2	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0001909	HP:0004808	Acute myeloid leukemia	2	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0001909	HP:0004808	Acute myeloid leukemia	2	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0001909	HP:0004808	Acute myeloid leukemia	2	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0001909	HP:0004808	Acute myeloid leukemia	2	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0001909	HP:0004808	Acute myeloid leukemia	2	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0001909	HP:0004808	Acute myeloid leukemia	2	RUNX1 CL E G H	861	10471	OMIM:601626	Leukemia, acute myeloid	.	181
HP:0001909	HP:0004808	Acute myeloid leukemia	2	RUNX1 CL E G H	861	10471	OMIM:601399	Platelet disorder, familial, with associated myeloid malignancy		181
HP:0001909	HP:0004845	Acute monocytic leukemia	2	RUNX1 CL E G H	861	10471	OMIM:601399	Platelet disorder, familial, with associated myeloid malignancy	.	181
HP:0001909	HP:0004808	Acute myeloid leukemia	2	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0001909	HP:0004820	Acute myelomonocytic leukemia	2	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome	.	4
HP:0001909	HP:0004820	Acute myelomonocytic leukemia	2	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome	HP:0040282 - Frequent	4
HP:0001909	HP:0004808	Acute myeloid leukemia	2	SAMD9L CL E G H	219285	1349	OMIM:252270	Myelodysplasia and leukemia syndrome with monosomy 7		4
HP:0001909	HP:0005550	Chronic lymphatic leukemia	2	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	55
HP:0001909	HP:0004808	Acute myeloid leukemia	2	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	26
HP:0001909	HP:0004808	Acute myeloid leukemia	2	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.	26
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0001909	HP:0004808	Acute myeloid leukemia	2	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	19
HP:0001909	HP:0004808	Acute myeloid leukemia	2	SH3GL1 CL E G H	6455	10830	OMIM:601626	Leukemia, acute myeloid	.
HP:0001909	HP:0004836	Acute promyelocytic leukemia	2	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040284 - Very rare	164
HP:0001909	HP:0004845	Acute monocytic leukemia	2	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0001909	HP:0004808	Acute myeloid leukemia	2	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional
HP:0001909	HP:0004808	Acute myeloid leukemia	2	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional
HP:0001909	HP:0004808	Acute myeloid leukemia	2	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0001909	HP:0005550	Chronic lymphatic leukemia	2	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040284 - Very rare	1
HP:0001909	HP:0004808	Acute myeloid leukemia	2	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	1
HP:0001909	HP:0012325	Chronic myelomonocytic leukemia	2	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	1
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	TAL1 CL E G H	6886	11556	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	TAL2 CL E G H	6887	11557	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	82
HP:0001909	HP:0004808	Acute myeloid leukemia	2	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	82
HP:0001909	HP:0004808	Acute myeloid leukemia	2	TERT CL E G H	7015	11730	OMIM:601626	Leukemia, acute myeloid	.	238
HP:0001909	HP:0004808	Acute myeloid leukemia	2	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	3
HP:0001909	HP:0005550	Chronic lymphatic leukemia	2	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040284 - Very rare	3
HP:0001909	HP:0012325	Chronic myelomonocytic leukemia	2	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	3
HP:0001909	HP:0004808	Acute myeloid leukemia	2	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	3
HP:0001909	HP:0005506	Chronic myelogenous leukemia	2	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	23
HP:0001909	HP:0004808	Acute myeloid leukemia	2	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	23
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	911
HP:0001909	HP:0004808	Acute myeloid leukemia	2	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	911
HP:0001909	HP:0005550	Chronic lymphatic leukemia	2	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	56
HP:0001909	HP:0006721	Acute lymphoblastic leukemia	2	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	2
HP:0001909	HP:0004808	Acute myeloid leukemia	2	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0001909	HP:0004848	Ph-positive acute lymphoblastic leukemia	3	ABL1 CL E G H	25	76	OMIM:608232	Leukemia, chronic myeloid	.	51
HP:0001909	HP:0004848	Ph-positive acute lymphoblastic leukemia	3	BCR CL E G H	613	1014	OMIM:608232	Leukemia, chronic myeloid	.	5
HP:0001909	HP:0006727	T-cell acute lymphoblastic leukemias	3	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0001909	HP:0006727	T-cell acute lymphoblastic leukemias	3	DUT CL E G H	1854	3078	OMIM:620044
HP:0001909	HP:0006727	T-cell acute lymphoblastic leukemias	3	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2		2162
HP:0001909	HP:0004812	B Acute Lymphoblastic Leukemia	3	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2