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:0002846	HP:0002846	Abnormal B cell morphology	0	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency		75
HP:0002846	HP:0002846	Abnormal B cell morphology	0	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		75
HP:0002846	HP:0002846	Abnormal B cell morphology	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0002846	HP:0002846	Abnormal B cell morphology	0	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0002846	HP:0002846	Abnormal B cell morphology	0	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0002846	HP:0002846	Abnormal B cell morphology	0	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0002846	HP:0002846	Abnormal B cell morphology	0	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0002846	HP:0002846	Abnormal B cell morphology	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0002846	HP:0002846	Abnormal B cell morphology	0	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0002846	HP:0002846	Abnormal B cell morphology	0	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0002846	HP:0002846	Abnormal B cell morphology	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0002846	HP:0002846	Abnormal B cell morphology	0	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0002846	HP:0002846	Abnormal B cell morphology	0	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0002846	HP:0002846	Abnormal B cell morphology	0	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0002846	HP:0002846	Abnormal B cell morphology	0	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0002846	HP:0002846	Abnormal B cell morphology	0	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0002846	HP:0002846	Abnormal B cell morphology	0	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome		94
HP:0002846	HP:0002846	Abnormal B cell morphology	0	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0002846	HP:0002846	Abnormal B cell morphology	0	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0002846	HP:0002846	Abnormal B cell morphology	0	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0002846	HP:0002846	Abnormal B cell morphology	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0002846	HP:0002846	Abnormal B cell morphology	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0002846	HP:0002846	Abnormal B cell morphology	0	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0002846	HP:0002846	Abnormal B cell morphology	0	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0002846	HP:0002846	Abnormal B cell morphology	0	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant		56
HP:0002846	HP:0002846	Abnormal B cell morphology	0	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0002846	HP:0002846	Abnormal B cell morphology	0	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0002846	HP:0002846	Abnormal B cell morphology	0	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0002846	HP:0002846	Abnormal B cell morphology	0	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0002846	HP:0002846	Abnormal B cell morphology	0	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0002846	HP:0002846	Abnormal B cell morphology	0	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0002846	HP:0002846	Abnormal B cell morphology	0	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0002846	HP:0002846	Abnormal B cell morphology	0	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0002846	HP:0002846	Abnormal B cell morphology	0	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0002846	HP:0002846	Abnormal B cell morphology	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0002846	HP:0002846	Abnormal B cell morphology	0	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0002846	HP:0002846	Abnormal B cell morphology	0	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0002846	HP:0002846	Abnormal B cell morphology	0	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0002846	HP:0002846	Abnormal B cell morphology	0	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0002846	HP:0002846	Abnormal B cell morphology	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0002846	HP:0002846	Abnormal B cell morphology	0	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0002846	HP:0002846	Abnormal B cell morphology	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0002846	HP:0002846	Abnormal B cell morphology	0	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0002846	HP:0002846	Abnormal B cell morphology	0	MYD88 CL E G H	4615	7562	OMIM:612260	MYD88 DEFICIENCY; MYD88D		9
HP:0002846	HP:0002846	Abnormal B cell morphology	0	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0002846	HP:0002846	Abnormal B cell morphology	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0002846	HP:0002846	Abnormal B cell morphology	0	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0002846	HP:0002846	Abnormal B cell morphology	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0002846	HP:0002846	Abnormal B cell morphology	0	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency		20
HP:0002846	HP:0002846	Abnormal B cell morphology	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0002846	HP:0002846	Abnormal B cell morphology	0	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0002846	HP:0002846	Abnormal B cell morphology	0	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0002846	HP:0002846	Abnormal B cell morphology	0	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0002846	HP:0002846	Abnormal B cell morphology	0	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0002846	HP:0002846	Abnormal B cell morphology	0	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0002846	HP:0002846	Abnormal B cell morphology	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002846	HP:0002846	Abnormal B cell morphology	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0002846	HP:0002846	Abnormal B cell morphology	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0002846	HP:0002846	Abnormal B cell morphology	0	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0002846	HP:0002846	Abnormal B cell morphology	0	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0002846	HP:0002846	Abnormal B cell morphology	0	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0002846	HP:0002846	Abnormal B cell morphology	0	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas		127
HP:0002846	HP:0002846	Abnormal B cell morphology	0	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0002846	HP:0002846	Abnormal B cell morphology	0	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome		127
HP:0002846	HP:0002846	Abnormal B cell morphology	0	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0002846	HP:0002846	Abnormal B cell morphology	0	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		127
HP:0002846	HP:0002846	Abnormal B cell morphology	0	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas		50
HP:0002846	HP:0002846	Abnormal B cell morphology	0	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome		50
HP:0002846	HP:0002846	Abnormal B cell morphology	0	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0002846	HP:0002846	Abnormal B cell morphology	0	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		50
HP:0002846	HP:0002846	Abnormal B cell morphology	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0002846	HP:0002846	Abnormal B cell morphology	0	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0002846	HP:0002846	Abnormal B cell morphology	0	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0002846	HP:0002846	Abnormal B cell morphology	0	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0002846	HP:0002846	Abnormal B cell morphology	0	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0002846	HP:0002846	Abnormal B cell morphology	0	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0002846	HP:0002846	Abnormal B cell morphology	0	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0002846	HP:0002846	Abnormal B cell morphology	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0002846	HP:0002846	Abnormal B cell morphology	0	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0002846	HP:0002846	Abnormal B cell morphology	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0002846	HP:0002846	Abnormal B cell morphology	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0002846	HP:0002846	Abnormal B cell morphology	0	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0002846	HP:0002846	Abnormal B cell morphology	0	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant		2
HP:0002846	HP:0002846	Abnormal B cell morphology	0	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0002846	HP:0002846	Abnormal B cell morphology	0	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0002846	HP:0002846	Abnormal B cell morphology	0	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0002846	HP:0002846	Abnormal B cell morphology	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0002846	HP:0002846	Abnormal B cell morphology	0	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0002846	HP:0002846	Abnormal B cell morphology	0	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0002846	HP:0002846	Abnormal B cell morphology	0	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0002846	HP:0002846	Abnormal B cell morphology	0	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0002846	HP:0025617	Abnormal plasma cell count	1	CL E G H
HP:0002846	HP:0010975	Abnormal B cell count	1	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency		75
HP:0002846	HP:0010975	Abnormal B cell count	1	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		75
HP:0002846	HP:0010975	Abnormal B cell count	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0002846	HP:0010975	Abnormal B cell count	1	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0002846	HP:0010975	Abnormal B cell count	1	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0002846	HP:0010975	Abnormal B cell count	1	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0002846	HP:0010975	Abnormal B cell count	1	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0002846	HP:0010975	Abnormal B cell count	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0002846	HP:0010975	Abnormal B cell count	1	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0002846	HP:0010975	Abnormal B cell count	1	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0002846	HP:0010975	Abnormal B cell count	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0002846	HP:0010975	Abnormal B cell count	1	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0002846	HP:0010975	Abnormal B cell count	1	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0002846	HP:0010975	Abnormal B cell count	1	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0002846	HP:0010975	Abnormal B cell count	1	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0002846	HP:0010975	Abnormal B cell count	1	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0002846	HP:0010975	Abnormal B cell count	1	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome		94
HP:0002846	HP:0010975	Abnormal B cell count	1	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0002846	HP:0010975	Abnormal B cell count	1	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0002846	HP:0010975	Abnormal B cell count	1	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0002846	HP:0010975	Abnormal B cell count	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0002846	HP:0010975	Abnormal B cell count	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0002846	HP:0010975	Abnormal B cell count	1	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0002846	HP:0010975	Abnormal B cell count	1	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0002846	HP:0010975	Abnormal B cell count	1	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant		56
HP:0002846	HP:0010975	Abnormal B cell count	1	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0002846	HP:0010975	Abnormal B cell count	1	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0002846	HP:0010975	Abnormal B cell count	1	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0002846	HP:0010975	Abnormal B cell count	1	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0002846	HP:0010975	Abnormal B cell count	1	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0002846	HP:0010975	Abnormal B cell count	1	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0002846	HP:0010975	Abnormal B cell count	1	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0002846	HP:0010975	Abnormal B cell count	1	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0002846	HP:0010975	Abnormal B cell count	1	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0002846	HP:0010975	Abnormal B cell count	1	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0002846	HP:0010975	Abnormal B cell count	1	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0002846	HP:0010975	Abnormal B cell count	1	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0002846	HP:0010975	Abnormal B cell count	1	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0002846	HP:0010975	Abnormal B cell count	1	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0002846	HP:0010975	Abnormal B cell count	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0002846	HP:0010975	Abnormal B cell count	1	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0002846	HP:0010975	Abnormal B cell count	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0002846	HP:0010975	Abnormal B cell count	1	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0002846	HP:0010975	Abnormal B cell count	1	MYD88 CL E G H	4615	7562	OMIM:612260	MYD88 DEFICIENCY; MYD88D		9
HP:0002846	HP:0010975	Abnormal B cell count	1	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0002846	HP:0010975	Abnormal B cell count	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0002846	HP:0010975	Abnormal B cell count	1	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0002846	HP:0010975	Abnormal B cell count	1	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0002846	HP:0010975	Abnormal B cell count	1	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency		20
HP:0002846	HP:0010975	Abnormal B cell count	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0002846	HP:0010975	Abnormal B cell count	1	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0002846	HP:0010975	Abnormal B cell count	1	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0002846	HP:0010975	Abnormal B cell count	1	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0002846	HP:0010975	Abnormal B cell count	1	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0002846	HP:0010975	Abnormal B cell count	1	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0002846	HP:0010975	Abnormal B cell count	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002846	HP:0010975	Abnormal B cell count	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0002846	HP:0010975	Abnormal B cell count	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0002846	HP:0010975	Abnormal B cell count	1	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0002846	HP:0010975	Abnormal B cell count	1	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0002846	HP:0010975	Abnormal B cell count	1	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0002846	HP:0010975	Abnormal B cell count	1	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas		127
HP:0002846	HP:0010975	Abnormal B cell count	1	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency		127
HP:0002846	HP:0010975	Abnormal B cell count	1	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome		127
HP:0002846	HP:0010975	Abnormal B cell count	1	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040281 - Very frequent	127
HP:0002846	HP:0010975	Abnormal B cell count	1	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		127
HP:0002846	HP:0010975	Abnormal B cell count	1	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas		50
HP:0002846	HP:0010975	Abnormal B cell count	1	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome		50
HP:0002846	HP:0010975	Abnormal B cell count	1	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040281 - Very frequent	50
HP:0002846	HP:0010975	Abnormal B cell count	1	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		50
HP:0002846	HP:0010975	Abnormal B cell count	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0002846	HP:0010975	Abnormal B cell count	1	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0002846	HP:0010975	Abnormal B cell count	1	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0002846	HP:0010975	Abnormal B cell count	1	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0002846	HP:0010975	Abnormal B cell count	1	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0002846	HP:0010975	Abnormal B cell count	1	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0002846	HP:0010975	Abnormal B cell count	1	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0002846	HP:0010975	Abnormal B cell count	1	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0002846	HP:0010975	Abnormal B cell count	1	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0002846	HP:0010975	Abnormal B cell count	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0002846	HP:0010975	Abnormal B cell count	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0002846	HP:0010975	Abnormal B cell count	1	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant		2
HP:0002846	HP:0010975	Abnormal B cell count	1	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0002846	HP:0010975	Abnormal B cell count	1	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0002846	HP:0010975	Abnormal B cell count	1	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0002846	HP:0010975	Abnormal B cell count	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0002846	HP:0010975	Abnormal B cell count	1	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0002846	HP:0010975	Abnormal B cell count	1	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0002846	HP:0010975	Abnormal B cell count	1	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0002846	HP:0010975	Abnormal B cell count	1	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0002846	HP:0025619	Elevated plasma cell count	2	CL E G H
HP:0002846	HP:0025618	Reduced plasma cell count	2	CL E G H
HP:0002846	HP:0010976	B lymphocytopenia	2	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency	HP:0040282 - Frequent	75
HP:0002846	HP:0010976	B lymphocytopenia	2	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	.	75
HP:0002846	HP:0010976	B lymphocytopenia	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent	68
HP:0002846	HP:0025539	Abnormal B cell subset distribution	2	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0002846	HP:0010976	B lymphocytopenia	2	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0002846	HP:0010976	B lymphocytopenia	2	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0002846	HP:0010976	B lymphocytopenia	2	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0002846	HP:0025539	Abnormal B cell subset distribution	2	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0002846	HP:0010976	B lymphocytopenia	2	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0002846	HP:0010976	B lymphocytopenia	2	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0002846	HP:0005404	Increased B cell count	2	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA		45
HP:0002846	HP:0005404	Increased B cell count	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	87
HP:0002846	HP:0005404	Increased B cell count	2	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0002846	HP:0025539	Abnormal B cell subset distribution	2	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0002846	HP:0010976	B lymphocytopenia	2	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0002846	HP:0025539	Abnormal B cell subset distribution	2	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0002846	HP:0025539	Abnormal B cell subset distribution	2	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0002846	HP:0010976	B lymphocytopenia	2	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome	.	94
HP:0002846	HP:0010976	B lymphocytopenia	2	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0002846	HP:0010976	B lymphocytopenia	2	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency	HP:0040281 - Very frequent	217
HP:0002846	HP:0025539	Abnormal B cell subset distribution	2	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0002846	HP:0005404	Increased B cell count	2	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	59
HP:0002846	HP:0005404	Increased B cell count	2	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	37
HP:0002846	HP:0010976	B lymphocytopenia	2	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0002846	HP:0010976	B lymphocytopenia	2	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0002846	HP:0025539	Abnormal B cell subset distribution	2	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0002846	HP:0010976	B lymphocytopenia	2	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant	.	56
HP:0002846	HP:0025539	Abnormal B cell subset distribution	2	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0002846	HP:0010976	B lymphocytopenia	2	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0002846	HP:0025539	Abnormal B cell subset distribution	2	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0002846	HP:0010976	B lymphocytopenia	2	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive	.	7
HP:0002846	HP:0010976	B lymphocytopenia	2	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0002846	HP:0025539	Abnormal B cell subset distribution	2	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0002846	HP:0010976	B lymphocytopenia	2	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0002846	HP:0010976	B lymphocytopenia	2	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0002846	HP:0010976	B lymphocytopenia	2	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0002846	HP:0025539	Abnormal B cell subset distribution	2	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0002846	HP:0010976	B lymphocytopenia	2	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0002846	HP:0025539	Abnormal B cell subset distribution	2	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0002846	HP:0025539	Abnormal B cell subset distribution	2	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0002846	HP:0010976	B lymphocytopenia	2	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0002846	HP:0010976	B lymphocytopenia	2	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040283 - Occasional	140
HP:0002846	HP:0010976	B lymphocytopenia	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0002846	HP:0025539	Abnormal B cell subset distribution	2	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0002846	HP:0025539	Abnormal B cell subset distribution	2	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0002846	HP:0010976	B lymphocytopenia	2	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0002846	HP:0010976	B lymphocytopenia	2	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0002846	HP:0010976	B lymphocytopenia	2	MYD88 CL E G H	4615	7562	OMIM:612260	MYD88 DEFICIENCY; MYD88D		9
HP:0002846	HP:0010976	B lymphocytopenia	2	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040282 - Frequent
HP:0002846	HP:0010976	B lymphocytopenia	2	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0002846	HP:0005404	Increased B cell count	2	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0002846	HP:0010976	B lymphocytopenia	2	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0002846	HP:0010976	B lymphocytopenia	2	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency	HP:0040281 - Very frequent	20
HP:0002846	HP:0010976	B lymphocytopenia	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0002846	HP:0025539	Abnormal B cell subset distribution	2	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0002846	HP:0010976	B lymphocytopenia	2	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0002846	HP:0010976	B lymphocytopenia	2	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0002846	HP:0025539	Abnormal B cell subset distribution	2	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0002846	HP:0025539	Abnormal B cell subset distribution	2	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0002846	HP:0025539	Abnormal B cell subset distribution	2	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0002846	HP:0010976	B lymphocytopenia	2	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0002846	HP:0010976	B lymphocytopenia	2	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002846	HP:0005404	Increased B cell count	2	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent	10
HP:0002846	HP:0025539	Abnormal B cell subset distribution	2	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0002846	HP:0005404	Increased B cell count	2	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0002846	HP:0005404	Increased B cell count	2	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0002846	HP:0010976	B lymphocytopenia	2	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0002846	HP:0010976	B lymphocytopenia	2	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0002846	HP:0010976	B lymphocytopenia	2	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas	.	127
HP:0002846	HP:0010976	B lymphocytopenia	2	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency	HP:0040281 - Very frequent	127
HP:0002846	HP:0010976	B lymphocytopenia	2	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome	.	127
HP:0002846	HP:0010976	B lymphocytopenia	2	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	.	127
HP:0002846	HP:0010976	B lymphocytopenia	2	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas	.	50
HP:0002846	HP:0010976	B lymphocytopenia	2	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome	.	50
HP:0002846	HP:0010976	B lymphocytopenia	2	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	.	50
HP:0002846	HP:0005404	Increased B cell count	2	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent
HP:0002846	HP:0025539	Abnormal B cell subset distribution	2	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0002846	HP:0010976	B lymphocytopenia	2	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0002846	HP:0025539	Abnormal B cell subset distribution	2	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0002846	HP:0010976	B lymphocytopenia	2	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0002846	HP:0010976	B lymphocytopenia	2	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0002846	HP:0010976	B lymphocytopenia	2	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0002846	HP:0025539	Abnormal B cell subset distribution	2	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0002846	HP:0025539	Abnormal B cell subset distribution	2	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0002846	HP:0010976	B lymphocytopenia	2	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0002846	HP:0010976	B lymphocytopenia	2	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent	89
HP:0002846	HP:0010976	B lymphocytopenia	2	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0002846	HP:0010976	B lymphocytopenia	2	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant		2
HP:0002846	HP:0010976	B lymphocytopenia	2	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0002846	HP:0025539	Abnormal B cell subset distribution	2	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0002846	HP:0010976	B lymphocytopenia	2	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0002846	HP:0010976	B lymphocytopenia	2	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent
HP:0002846	HP:0025539	Abnormal B cell subset distribution	2	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0002846	HP:0010976	B lymphocytopenia	2	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0002846	HP:0010976	B lymphocytopenia	2	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0002846	HP:0010976	B lymphocytopenia	2	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0002846	HP:0030370	Abnormal proportion of naive B cells	3	CL E G H
HP:0002846	HP:0030251	Absence of memory B cells	3	CL E G H
HP:0002846	HP:0030376	Abnormal proportion of immature B cells	3	CL E G H
HP:0002846	HP:0032127	Abnormal plasmablast proportion	3	CL E G H
HP:0002846	HP:0005365	Severe B lymphocytopenia	3	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	.	75
HP:0002846	HP:0030379	Abnormal proportion of transitional B cells	3	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0002846	HP:0030373	Abnormal proportion of memory B cells	3	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0002846	HP:0030373	Abnormal proportion of memory B cells	3	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0002846	HP:0030252	Absent circulating B cells	3	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0002846	HP:0030373	Abnormal proportion of memory B cells	3	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0002846	HP:0030373	Abnormal proportion of memory B cells	3	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0002846	HP:0030373	Abnormal proportion of memory B cells	3	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0002846	HP:0005365	Severe B lymphocytopenia	3	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome	.	94
HP:0002846	HP:0030373	Abnormal proportion of memory B cells	3	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0002846	HP:0030373	Abnormal proportion of memory B cells	3	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0002846	HP:0030252	Absent circulating B cells	3	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0002846	HP:0030373	Abnormal proportion of memory B cells	3	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0002846	HP:0030373	Abnormal proportion of memory B cells	3	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0002846	HP:0030252	Absent circulating B cells	3	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0002846	HP:0030373	Abnormal proportion of memory B cells	3	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0002846	HP:0030373	Abnormal proportion of memory B cells	3	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0002846	HP:0030373	Abnormal proportion of memory B cells	3	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0002846	HP:0030373	Abnormal proportion of memory B cells	3	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0002846	HP:0030373	Abnormal proportion of memory B cells	3	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0002846	HP:0030373	Abnormal proportion of memory B cells	3	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0002846	HP:0005365	Severe B lymphocytopenia	3	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent	11
HP:0002846	HP:0030373	Abnormal proportion of memory B cells	3	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0002846	HP:0030379	Abnormal proportion of transitional B cells	3	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0002846	HP:0030379	Abnormal proportion of transitional B cells	3	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0002846	HP:0030373	Abnormal proportion of memory B cells	3	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0002846	HP:0030373	Abnormal proportion of memory B cells	3	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0002846	HP:0005365	Severe B lymphocytopenia	3	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002846	HP:0030373	Abnormal proportion of memory B cells	3	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0002846	HP:0033207	Increased proportion autoreactive unresponsive CD21-/low B cells	3	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0002846	HP:0005365	Severe B lymphocytopenia	3	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome	.	127
HP:0002846	HP:0005365	Severe B lymphocytopenia	3	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome	.	50
HP:0002846	HP:0033207	Increased proportion autoreactive unresponsive CD21-/low B cells	3	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0002846	HP:0030373	Abnormal proportion of memory B cells	3	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0002846	HP:0030252	Absent circulating B cells	3	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0002846	HP:0030373	Abnormal proportion of memory B cells	3	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0002846	HP:0030373	Abnormal proportion of memory B cells	3	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0002846	HP:0030252	Absent circulating B cells	3	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0002846	HP:0030373	Abnormal proportion of memory B cells	3	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0002846	HP:0030373	Abnormal proportion of memory B cells	3	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0002846	HP:0030378	Decreased proportion of immature B cells	4	CL E G H
HP:0002846	HP:0030377	Increased proportion of immature B cells	4	CL E G H
HP:0002846	HP:0032124	Abnormal proportion of unswitched memory B cells	4	CL E G H
HP:0002846	HP:0030375	Increased proportion of memory B cells	4	CL E G H
HP:0002846	HP:0032129	Decreased proportion of plasmablasts	4	CL E G H
HP:0002846	HP:0030372	Decreased proportion of naive B cells	4	CL E G H
HP:0002846	HP:0032128	Increased proportion of plasmablasts	4	CL E G H
HP:0002846	HP:0030371	Increased proportion of naive B cells	4	CL E G H
HP:0002846	HP:0030380	Decreased proportion of transitional B cells	4	CL E G H
HP:0002846	HP:0030381	Increased proportion of transitional B cells	4	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0002846	HP:0030374	Decreased proportion of memory B cells	4	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0002846	HP:0030374	Decreased proportion of memory B cells	4	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0002846	HP:0030386	Abnormal proportion of class-switched memory B cells	4	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0002846	HP:0030374	Decreased proportion of memory B cells	4	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0002846	HP:0030386	Abnormal proportion of class-switched memory B cells	4	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0002846	HP:0030374	Decreased proportion of memory B cells	4	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0002846	HP:0030374	Decreased proportion of memory B cells	4	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0002846	HP:0030374	Decreased proportion of memory B cells	4	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0002846	HP:0030386	Abnormal proportion of class-switched memory B cells	4	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0002846	HP:0030374	Decreased proportion of memory B cells	4	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0002846	HP:0030386	Abnormal proportion of class-switched memory B cells	4	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0002846	HP:0030374	Decreased proportion of memory B cells	4	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0002846	HP:0030386	Abnormal proportion of class-switched memory B cells	4	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0002846	HP:0030374	Decreased proportion of memory B cells	4	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0002846	HP:0030374	Decreased proportion of memory B cells	4	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0002846	HP:0030374	Decreased proportion of memory B cells	4	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0002846	HP:0030386	Abnormal proportion of class-switched memory B cells	4	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0002846	HP:0030374	Decreased proportion of memory B cells	4	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0002846	HP:0030386	Abnormal proportion of class-switched memory B cells	4	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0002846	HP:0030386	Abnormal proportion of class-switched memory B cells	4	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0002846	HP:0030374	Decreased proportion of memory B cells	4	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0002846	HP:0030374	Decreased proportion of memory B cells	4	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0002846	HP:0030386	Abnormal proportion of class-switched memory B cells	4	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0002846	HP:0030386	Abnormal proportion of class-switched memory B cells	4	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0002846	HP:0030374	Decreased proportion of memory B cells	4	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0002846	HP:0030374	Decreased proportion of memory B cells	4	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0002846	HP:0030386	Abnormal proportion of class-switched memory B cells	4	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0002846	HP:0030381	Increased proportion of transitional B cells	4	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0002846	HP:0030381	Increased proportion of transitional B cells	4	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0002846	HP:0030386	Abnormal proportion of class-switched memory B cells	4	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0002846	HP:0030374	Decreased proportion of memory B cells	4	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0002846	HP:0030374	Decreased proportion of memory B cells	4	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0002846	HP:0030374	Decreased proportion of memory B cells	4	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0002846	HP:0030386	Abnormal proportion of class-switched memory B cells	4	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0002846	HP:0030374	Decreased proportion of memory B cells	4	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0002846	HP:0030386	Abnormal proportion of class-switched memory B cells	4	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0002846	HP:0030374	Decreased proportion of memory B cells	4	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0002846	HP:0030386	Abnormal proportion of class-switched memory B cells	4	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0002846	HP:0030383	Abnormal proportion of marginal zone B cells	4	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0002846	HP:0030374	Decreased proportion of memory B cells	4	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040282 - Frequent	49
HP:0002846	HP:0030386	Abnormal proportion of class-switched memory B cells	4	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0002846	HP:0030374	Decreased proportion of memory B cells	4	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0002846	HP:0030374	Decreased proportion of memory B cells	4	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0002846	HP:0032126	Decreased proportion of unswitched memory B cells	5	CL E G H
HP:0002846	HP:0032125	Increased proportion of unswitched memory B cells	5	CL E G H
HP:0002846	HP:0030387	Increased proportion of class-switched memory B cells	5	CL E G H
HP:0002846	HP:0030385	Increased proportion of marginal zone B cells	5	CL E G H
HP:0002846	HP:0030388	Decreased proportion of class-switched memory B cells	5	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0002846	HP:0030388	Decreased proportion of class-switched memory B cells	5	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0002846	HP:0030388	Decreased proportion of class-switched memory B cells	5	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0002846	HP:0030388	Decreased proportion of class-switched memory B cells	5	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0002846	HP:0030388	Decreased proportion of class-switched memory B cells	5	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0002846	HP:0030388	Decreased proportion of class-switched memory B cells	5	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0002846	HP:0030388	Decreased proportion of class-switched memory B cells	5	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0002846	HP:0030388	Decreased proportion of class-switched memory B cells	5	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0002846	HP:0030388	Decreased proportion of class-switched memory B cells	5	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0002846	HP:0030388	Decreased proportion of class-switched memory B cells	5	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0002846	HP:0030388	Decreased proportion of class-switched memory B cells	5	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0002846	HP:0030388	Decreased proportion of class-switched memory B cells	5	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0002846	HP:0030388	Decreased proportion of class-switched memory B cells	5	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0002846	HP:0030388	Decreased proportion of class-switched memory B cells	5	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0002846	HP:0030384	Decreased proportion of marginal zone B cells	5	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0002846	HP:0030388	Decreased proportion of class-switched memory B cells	5	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0002846	HP:0030388	Decreased proportion of class-switched memory B cells	5	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3