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:0002488	HP:0002488	Acute leukemia	0	ABL1 CL E G H	25	76	OMIM:608232	Leukemia, chronic myeloid		51
HP:0002488	HP:0002488	Acute leukemia	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia		22
HP:0002488	HP:0002488	Acute leukemia	0	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0002488	HP:0002488	Acute leukemia	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0002488	HP:0002488	Acute leukemia	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0002488	HP:0002488	Acute leukemia	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0002488	HP:0002488	Acute leukemia	0	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome	HP:0040283 - Occasional	169
HP:0002488	HP:0002488	Acute leukemia	0	BAX CL E G H	581	959	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		4
HP:0002488	HP:0002488	Acute leukemia	0	BCR CL E G H	613	1014	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		5
HP:0002488	HP:0002488	Acute leukemia	0	BCR CL E G H	613	1014	OMIM:608232	Leukemia, chronic myeloid		5
HP:0002488	HP:0002488	Acute leukemia	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0002488	HP:0002488	Acute leukemia	0	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0002488	HP:0002488	Acute leukemia	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0002488	HP:0002488	Acute leukemia	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0002488	HP:0002488	Acute leukemia	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0002488	HP:0002488	Acute leukemia	0	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia	HP:0040283 - Occasional	1
HP:0002488	HP:0002488	Acute leukemia	0	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome		289
HP:0002488	HP:0002488	Acute leukemia	0	CEBPA CL E G H	1050	1833	OMIM:601626	Leukemia, acute myeloid		65
HP:0002488	HP:0002488	Acute leukemia	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0002488	HP:0002488	Acute leukemia	0	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome		833
HP:0002488	HP:0002488	Acute leukemia	0	CHIC2 CL E G H	26511	1935	OMIM:601626	Leukemia, acute myeloid
HP:0002488	HP:0002488	Acute leukemia	0	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0002488	HP:0002488	Acute leukemia	0	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to		23
HP:0002488	HP:0002488	Acute leukemia	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0002488	HP:0002488	Acute leukemia	0	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3		5
HP:0002488	HP:0002488	Acute leukemia	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome		5
HP:0002488	HP:0002488	Acute leukemia	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0002488	HP:0002488	Acute leukemia	0	DNMT3A CL E G H	1788	2978	OMIM:601626	Leukemia, acute myeloid		44
HP:0002488	HP:0002488	Acute leukemia	0	DUT CL E G H	1854	3078	OMIM:620044
HP:0002488	HP:0002488	Acute leukemia	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	7
HP:0002488	HP:0002488	Acute leukemia	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome		1
HP:0002488	HP:0002488	Acute leukemia	0	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0002488	HP:0002488	Acute leukemia	0	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0002488	HP:0002488	Acute leukemia	0	ERBB3 CL E G H	2065	3431	OMIM:133180	Erythroleukemia, familial, susceptibility to		12
HP:0002488	HP:0002488	Acute leukemia	0	ETV6 CL E G H	2120	3495	OMIM:601626	Leukemia, acute myeloid		13
HP:0002488	HP:0002488	Acute leukemia	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	209
HP:0002488	HP:0002488	Acute leukemia	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	137
HP:0002488	HP:0002488	Acute leukemia	0	FLT3 CL E G H	2322	3765	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		61
HP:0002488	HP:0002488	Acute leukemia	0	FLT3 CL E G H	2322	3765	OMIM:601626	Leukemia, acute myeloid		61
HP:0002488	HP:0002488	Acute leukemia	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia		29
HP:0002488	HP:0002488	Acute leukemia	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0002488	HP:0002488	Acute leukemia	0	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040281 - Very frequent	137
HP:0002488	HP:0002488	Acute leukemia	0	GATA2 CL E G H	2624	4171	OMIM:601626	Leukemia, acute myeloid		137
HP:0002488	HP:0002488	Acute leukemia	0	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia		137
HP:0002488	HP:0002488	Acute leukemia	0	GATA2 CL E G H	2624	4171	ORPHA:98827	Unclassified myelodysplastic syndrome		137
HP:0002488	HP:0002488	Acute leukemia	0	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0002488	HP:0002488	Acute leukemia	0	GFI1 CL E G H	2672	4237	OMIM:607847	Neutropenia, nonimmune chronic idiopathic, of adults		56
HP:0002488	HP:0002488	Acute leukemia	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	1
HP:0002488	HP:0002488	Acute leukemia	0	GNB1 CL E G H	2782	4396	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		12
HP:0002488	HP:0002488	Acute leukemia	0	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3		32
HP:0002488	HP:0002488	Acute leukemia	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0002488	HP:0002488	Acute leukemia	0	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0002488	HP:0002488	Acute leukemia	0	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia	HP:0040283 - Occasional	57
HP:0002488	HP:0002488	Acute leukemia	0	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis		57
HP:0002488	HP:0002488	Acute leukemia	0	JAK2 CL E G H	3717	6192	OMIM:601626	Leukemia, acute myeloid		57
HP:0002488	HP:0002488	Acute leukemia	0	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent	57
HP:0002488	HP:0002488	Acute leukemia	0	KIT CL E G H	3815	6342	OMIM:601626	Leukemia, acute myeloid		327
HP:0002488	HP:0002488	Acute leukemia	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0002488	HP:0002488	Acute leukemia	0	KRAS CL E G H	3845	6407	OMIM:601626	Leukemia, acute myeloid		196
HP:0002488	HP:0002488	Acute leukemia	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0002488	HP:0002488	Acute leukemia	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent	88
HP:0002488	HP:0002488	Acute leukemia	0	LPP CL E G H	4026	6679	OMIM:601626	Leukemia, acute myeloid		1
HP:0002488	HP:0002488	Acute leukemia	0	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0002488	HP:0002488	Acute leukemia	0	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome		1
HP:0002488	HP:0002488	Acute leukemia	0	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome		281
HP:0002488	HP:0002488	Acute leukemia	0	MLLT10 CL E G H	8028	16063	OMIM:601626	Leukemia, acute myeloid
HP:0002488	HP:0002488	Acute leukemia	0	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia	HP:0040283 - Occasional	97
HP:0002488	HP:0002488	Acute leukemia	0	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis		97
HP:0002488	HP:0002488	Acute leukemia	0	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent	97
HP:0002488	HP:0002488	Acute leukemia	0	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2		2162
HP:0002488	HP:0002488	Acute leukemia	0	NBN CL E G H	4683	7652	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		706
HP:0002488	HP:0002488	Acute leukemia	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040283 - Occasional	706
HP:0002488	HP:0002488	Acute leukemia	0	NPM1 CL E G H	4869	7910	OMIM:601626	Leukemia, acute myeloid		12
HP:0002488	HP:0002488	Acute leukemia	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0002488	HP:0002488	Acute leukemia	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0002488	HP:0002488	Acute leukemia	0	NUMA1 CL E G H	4926	8059	OMIM:612376	Acute promyelocytic leukemia
HP:0002488	HP:0002488	Acute leukemia	0	NUP214 CL E G H	8021	8064	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1		1
HP:0002488	HP:0002488	Acute leukemia	0	NUP214 CL E G H	8021	8064	OMIM:601626	Leukemia, acute myeloid		1
HP:0002488	HP:0002488	Acute leukemia	0	PICALM CL E G H	8301	15514	OMIM:601626	Leukemia, acute myeloid		3
HP:0002488	HP:0002488	Acute leukemia	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040283 - Occasional	36
HP:0002488	HP:0002488	Acute leukemia	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0002488	HP:0002488	Acute leukemia	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	2
HP:0002488	HP:0002488	Acute leukemia	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	2
HP:0002488	HP:0002488	Acute leukemia	0	RARA CL E G H	5914	9864	OMIM:612376	Acute promyelocytic leukemia		2
HP:0002488	HP:0002488	Acute leukemia	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia		22
HP:0002488	HP:0002488	Acute leukemia	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia		3
HP:0002488	HP:0002488	Acute leukemia	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0002488	HP:0002488	Acute leukemia	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia		3
HP:0002488	HP:0002488	Acute leukemia	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia		1
HP:0002488	HP:0002488	Acute leukemia	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0002488	HP:0002488	Acute leukemia	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0002488	HP:0002488	Acute leukemia	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia		11
HP:0002488	HP:0002488	Acute leukemia	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia		40
HP:0002488	HP:0002488	Acute leukemia	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia		26
HP:0002488	HP:0002488	Acute leukemia	0	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
HP:0002488	HP:0002488	Acute leukemia	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0002488	HP:0002488	Acute leukemia	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia		5
HP:0002488	HP:0002488	Acute leukemia	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia		42
HP:0002488	HP:0002488	Acute leukemia	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia		1
HP:0002488	HP:0002488	Acute leukemia	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia		22
HP:0002488	HP:0002488	Acute leukemia	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia		20
HP:0002488	HP:0002488	Acute leukemia	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia		1
HP:0002488	HP:0002488	Acute leukemia	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia		1
HP:0002488	HP:0002488	Acute leukemia	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia		3
HP:0002488	HP:0002488	Acute leukemia	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia		20
HP:0002488	HP:0002488	Acute leukemia	0	RUNX1 CL E G H	861	10471	OMIM:601626	Leukemia, acute myeloid		181
HP:0002488	HP:0002488	Acute leukemia	0	RUNX1 CL E G H	861	10471	OMIM:601399	Platelet disorder, familial, with associated myeloid malignancy		181
HP:0002488	HP:0002488	Acute leukemia	0	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0002488	HP:0002488	Acute leukemia	0	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome		4
HP:0002488	HP:0002488	Acute leukemia	0	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome		4
HP:0002488	HP:0002488	Acute leukemia	0	SAMD9L CL E G H	219285	1349	OMIM:252270	Myelodysplasia and leukemia syndrome with monosomy 7		4
HP:0002488	HP:0002488	Acute leukemia	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome		26
HP:0002488	HP:0002488	Acute leukemia	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0002488	HP:0002488	Acute leukemia	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0002488	HP:0002488	Acute leukemia	0	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia		19
HP:0002488	HP:0002488	Acute leukemia	0	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia	HP:0040283 - Occasional	4
HP:0002488	HP:0002488	Acute leukemia	0	SH3GL1 CL E G H	6455	10830	OMIM:601626	Leukemia, acute myeloid
HP:0002488	HP:0002488	Acute leukemia	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B		164
HP:0002488	HP:0002488	Acute leukemia	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0002488	HP:0002488	Acute leukemia	0	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0002488	HP:0002488	Acute leukemia	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0002488	HP:0002488	Acute leukemia	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0002488	HP:0002488	Acute leukemia	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0002488	HP:0002488	Acute leukemia	0	STS CL E G H	412	11425	ORPHA:281090	Syndromic recessive X-linked ichthyosis	HP:0040283 - Occasional	19
HP:0002488	HP:0002488	Acute leukemia	0	TAL1 CL E G H	6886	11556	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1
HP:0002488	HP:0002488	Acute leukemia	0	TAL2 CL E G H	6887	11557	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1
HP:0002488	HP:0002488	Acute leukemia	0	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0002488	HP:0002488	Acute leukemia	0	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0002488	HP:0002488	Acute leukemia	0	TERT CL E G H	7015	11730	OMIM:601626	Leukemia, acute myeloid		238
HP:0002488	HP:0002488	Acute leukemia	0	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia		3
HP:0002488	HP:0002488	Acute leukemia	0	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia	HP:0040283 - Occasional	3
HP:0002488	HP:0002488	Acute leukemia	0	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent	3
HP:0002488	HP:0002488	Acute leukemia	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0002488	HP:0002488	Acute leukemia	0	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis		23
HP:0002488	HP:0002488	Acute leukemia	0	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia	HP:0040283 - Occasional	911
HP:0002488	HP:0002488	Acute leukemia	0	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome		911
HP:0002488	HP:0002488	Acute leukemia	0	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome	.	911
HP:0002488	HP:0002488	Acute leukemia	0	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease	HP:0040283 - Occasional	31
HP:0002488	HP:0002488	Acute leukemia	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0002488	HP:0002488	Acute leukemia	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia		1
HP:0002488	HP:0002488	Acute leukemia	0	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease	HP:0040283 - Occasional	22
HP:0002488	HP:0002488	Acute leukemia	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	65
HP:0002488	HP:0002488	Acute leukemia	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	6
HP:0002488	HP:0002488	Acute leukemia	0	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent	9
HP:0002488	HP:0005531	Biphenotypic acute leukemia	1	CL E G H
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	ABL1 CL E G H	25	76	OMIM:608232	Leukemia, chronic myeloid		51
HP:0002488	HP:0004808	Acute myeloid leukemia	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0002488	HP:0004808	Acute myeloid leukemia	1	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0002488	HP:0004808	Acute myeloid leukemia	1	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	145
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	BAX CL E G H	581	959	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	4
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	BCR CL E G H	613	1014	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	5
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	BCR CL E G H	613	1014	OMIM:608232	Leukemia, chronic myeloid		5
HP:0002488	HP:0004808	Acute myeloid leukemia	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional	314
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional	314
HP:0002488	HP:0004808	Acute myeloid leukemia	1	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	5
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	76
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	289
HP:0002488	HP:0004808	Acute myeloid leukemia	1	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	289
HP:0002488	HP:0004808	Acute myeloid leukemia	1	CEBPA CL E G H	1050	1833	OMIM:601626	Leukemia, acute myeloid	.	65
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	17
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	833
HP:0002488	HP:0004808	Acute myeloid leukemia	1	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	833
HP:0002488	HP:0004808	Acute myeloid leukemia	1	CHIC2 CL E G H	26511	1935	OMIM:601626	Leukemia, acute myeloid	.
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	38
HP:0002488	HP:0004808	Acute myeloid leukemia	1	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	38
HP:0002488	HP:0004808	Acute myeloid leukemia	1	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to		23
HP:0002488	HP:0004808	Acute myeloid leukemia	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0002488	HP:0004808	Acute myeloid leukemia	1	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	HP:0040283 - Occasional	5
HP:0002488	HP:0004808	Acute myeloid leukemia	1	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	5
HP:0002488	HP:0004808	Acute myeloid leukemia	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.	5
HP:0002488	HP:0004808	Acute myeloid leukemia	1	DNMT3A CL E G H	1788	2978	OMIM:601626	Leukemia, acute myeloid	.	44
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	DUT CL E G H	1854	3078	OMIM:620044
HP:0002488	HP:0004808	Acute myeloid leukemia	1	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	1
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	79
HP:0002488	HP:0004808	Acute myeloid leukemia	1	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	79
HP:0002488	HP:0004845	Acute monocytic leukemia	1	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant	.	79
HP:0002488	HP:0004808	Acute myeloid leukemia	1	ERBB3 CL E G H	2065	3431	OMIM:133180	Erythroleukemia, familial, susceptibility to	.	12
HP:0002488	HP:0004808	Acute myeloid leukemia	1	ETV6 CL E G H	2120	3495	OMIM:601626	Leukemia, acute myeloid	.	13
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	FLT3 CL E G H	2322	3765	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	61
HP:0002488	HP:0004808	Acute myeloid leukemia	1	FLT3 CL E G H	2322	3765	OMIM:601626	Leukemia, acute myeloid	.	61
HP:0002488	HP:0004808	Acute myeloid leukemia	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	29
HP:0002488	HP:0006733	Acute megakaryocytic leukemia	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0002488	HP:0004808	Acute myeloid leukemia	1	GATA2 CL E G H	2624	4171	OMIM:601626	Leukemia, acute myeloid	.	137
HP:0002488	HP:0004808	Acute myeloid leukemia	1	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia		137
HP:0002488	HP:0004808	Acute myeloid leukemia	1	GATA2 CL E G H	2624	4171	ORPHA:98827	Unclassified myelodysplastic syndrome	HP:0040284 - Very rare	137
HP:0002488	HP:0004808	Acute myeloid leukemia	1	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	56
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	56
HP:0002488	HP:0004808	Acute myeloid leukemia	1	GFI1 CL E G H	2672	4237	OMIM:607847	Neutropenia, nonimmune chronic idiopathic, of adults	HP:0040283 - Occasional	56
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	GNB1 CL E G H	2782	4396	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	12
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3		32
HP:0002488	HP:0004820	Acute myelomonocytic leukemia	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0002488	HP:0004808	Acute myeloid leukemia	1	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	57
HP:0002488	HP:0004808	Acute myeloid leukemia	1	JAK2 CL E G H	3717	6192	OMIM:601626	Leukemia, acute myeloid	.	57
HP:0002488	HP:0004808	Acute myeloid leukemia	1	KIT CL E G H	3815	6342	OMIM:601626	Leukemia, acute myeloid	.	327
HP:0002488	HP:0004808	Acute myeloid leukemia	1	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	327
HP:0002488	HP:0004808	Acute myeloid leukemia	1	KRAS CL E G H	3845	6407	OMIM:601626	Leukemia, acute myeloid	.	196
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	88
HP:0002488	HP:0004808	Acute myeloid leukemia	1	LPP CL E G H	4026	6679	OMIM:601626	Leukemia, acute myeloid	.	1
HP:0002488	HP:0004808	Acute myeloid leukemia	1	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0002488	HP:0004808	Acute myeloid leukemia	1	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	1
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	1
HP:0002488	HP:0004808	Acute myeloid leukemia	1	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040283 - Occasional	281
HP:0002488	HP:0004808	Acute myeloid leukemia	1	MLLT10 CL E G H	8028	16063	OMIM:601626	Leukemia, acute myeloid	.
HP:0002488	HP:0004808	Acute myeloid leukemia	1	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	97
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2		2162
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	NBN CL E G H	4683	7652	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	706
HP:0002488	HP:0004808	Acute myeloid leukemia	1	NPM1 CL E G H	4869	7910	OMIM:601626	Leukemia, acute myeloid	.	12
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	84
HP:0002488	HP:0004836	Acute promyelocytic leukemia	1	NUMA1 CL E G H	4926	8059	OMIM:612376	Acute promyelocytic leukemia	.
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	NUP214 CL E G H	8021	8064	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	1
HP:0002488	HP:0004808	Acute myeloid leukemia	1	NUP214 CL E G H	8021	8064	OMIM:601626	Leukemia, acute myeloid	.	1
HP:0002488	HP:0004808	Acute myeloid leukemia	1	PICALM CL E G H	8301	15514	OMIM:601626	Leukemia, acute myeloid	.	3
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0002488	HP:0004836	Acute promyelocytic leukemia	1	RARA CL E G H	5914	9864	OMIM:612376	Acute promyelocytic leukemia	.	2
HP:0002488	HP:0004808	Acute myeloid leukemia	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0002488	HP:0004808	Acute myeloid leukemia	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0002488	HP:0004808	Acute myeloid leukemia	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0002488	HP:0004808	Acute myeloid leukemia	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0002488	HP:0004808	Acute myeloid leukemia	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0002488	HP:0004808	Acute myeloid leukemia	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0002488	HP:0004808	Acute myeloid leukemia	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0002488	HP:0004808	Acute myeloid leukemia	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	11
HP:0002488	HP:0004808	Acute myeloid leukemia	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	40
HP:0002488	HP:0004808	Acute myeloid leukemia	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	26
HP:0002488	HP:0004808	Acute myeloid leukemia	1	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	HP:0040283 - Occasional
HP:0002488	HP:0004808	Acute myeloid leukemia	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0002488	HP:0004808	Acute myeloid leukemia	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	5
HP:0002488	HP:0004808	Acute myeloid leukemia	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	42
HP:0002488	HP:0004808	Acute myeloid leukemia	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0002488	HP:0004808	Acute myeloid leukemia	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	22
HP:0002488	HP:0004808	Acute myeloid leukemia	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0002488	HP:0004808	Acute myeloid leukemia	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0002488	HP:0004808	Acute myeloid leukemia	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0002488	HP:0004808	Acute myeloid leukemia	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	3
HP:0002488	HP:0004808	Acute myeloid leukemia	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	20
HP:0002488	HP:0004808	Acute myeloid leukemia	1	RUNX1 CL E G H	861	10471	OMIM:601626	Leukemia, acute myeloid	.	181
HP:0002488	HP:0004845	Acute monocytic leukemia	1	RUNX1 CL E G H	861	10471	OMIM:601399	Platelet disorder, familial, with associated myeloid malignancy	.	181
HP:0002488	HP:0004808	Acute myeloid leukemia	1	RUNX1 CL E G H	861	10471	OMIM:601399	Platelet disorder, familial, with associated myeloid malignancy		181
HP:0002488	HP:0004808	Acute myeloid leukemia	1	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0002488	HP:0004820	Acute myelomonocytic leukemia	1	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome	HP:0040282 - Frequent	4
HP:0002488	HP:0004820	Acute myelomonocytic leukemia	1	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome	.	4
HP:0002488	HP:0004808	Acute myeloid leukemia	1	SAMD9L CL E G H	219285	1349	OMIM:252270	Myelodysplasia and leukemia syndrome with monosomy 7		4
HP:0002488	HP:0004808	Acute myeloid leukemia	1	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	26
HP:0002488	HP:0004808	Acute myeloid leukemia	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.	26
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0002488	HP:0004808	Acute myeloid leukemia	1	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	19
HP:0002488	HP:0004808	Acute myeloid leukemia	1	SH3GL1 CL E G H	6455	10830	OMIM:601626	Leukemia, acute myeloid	.
HP:0002488	HP:0004836	Acute promyelocytic leukemia	1	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040284 - Very rare	164
HP:0002488	HP:0004845	Acute monocytic leukemia	1	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional
HP:0002488	HP:0004808	Acute myeloid leukemia	1	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional
HP:0002488	HP:0004808	Acute myeloid leukemia	1	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional
HP:0002488	HP:0004808	Acute myeloid leukemia	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0002488	HP:0004808	Acute myeloid leukemia	1	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	1
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	TAL1 CL E G H	6886	11556	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	TAL2 CL E G H	6887	11557	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0002488	HP:0004808	Acute myeloid leukemia	1	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	82
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	82
HP:0002488	HP:0004808	Acute myeloid leukemia	1	TERT CL E G H	7015	11730	OMIM:601626	Leukemia, acute myeloid	.	238
HP:0002488	HP:0004808	Acute myeloid leukemia	1	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	3
HP:0002488	HP:0004808	Acute myeloid leukemia	1	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	3
HP:0002488	HP:0004808	Acute myeloid leukemia	1	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	23
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	911
HP:0002488	HP:0004808	Acute myeloid leukemia	1	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	911
HP:0002488	HP:0006721	Acute lymphoblastic leukemia	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	2
HP:0002488	HP:0004808	Acute myeloid leukemia	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare	1
HP:0002488	HP:0004848	Ph-positive acute lymphoblastic leukemia	2	ABL1 CL E G H	25	76	OMIM:608232	Leukemia, chronic myeloid	.	51
HP:0002488	HP:0004848	Ph-positive acute lymphoblastic leukemia	2	BCR CL E G H	613	1014	OMIM:608232	Leukemia, chronic myeloid	.	5
HP:0002488	HP:0006727	T-cell acute lymphoblastic leukemias	2	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0002488	HP:0006727	T-cell acute lymphoblastic leukemias	2	DUT CL E G H	1854	3078	OMIM:620044
HP:0002488	HP:0006727	T-cell acute lymphoblastic leukemias	2	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2		2162
HP:0002488	HP:0004812	B Acute Lymphoblastic Leukemia	2	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2