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:0012176	HP:0012176	Abnormal natural killer cell morphology	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0012176	HP:0012176	Abnormal natural killer cell morphology	0	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0012176	HP:0012176	Abnormal natural killer cell morphology	0	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0012176	HP:0012176	Abnormal natural killer cell morphology	0	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0012176	HP:0012176	Abnormal natural killer cell morphology	0	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0012176	HP:0012176	Abnormal natural killer cell morphology	0	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0012176	HP:0012176	Abnormal natural killer cell morphology	0	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20		4
HP:0012176	HP:0012176	Abnormal natural killer cell morphology	0	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21	.	137
HP:0012176	HP:0012176	Abnormal natural killer cell morphology	0	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0012176	HP:0012176	Abnormal natural killer cell morphology	0	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0012176	HP:0012176	Abnormal natural killer cell morphology	0	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0012176	HP:0012176	Abnormal natural killer cell morphology	0	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0012176	HP:0012176	Abnormal natural killer cell morphology	0	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0012176	HP:0012176	Abnormal natural killer cell morphology	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0012176	HP:0012176	Abnormal natural killer cell morphology	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040282 - Frequent	239
HP:0012176	HP:0012176	Abnormal natural killer cell morphology	0	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0012176	HP:0012176	Abnormal natural killer cell morphology	0	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54		69
HP:0012176	HP:0012176	Abnormal natural killer cell morphology	0	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0012176	HP:0012176	Abnormal natural killer cell morphology	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0012176	HP:0012176	Abnormal natural killer cell morphology	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0012176	HP:0012176	Abnormal natural killer cell morphology	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0012176	HP:0012176	Abnormal natural killer cell morphology	0	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0012176	HP:0012176	Abnormal natural killer cell morphology	0	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0012176	HP:0012176	Abnormal natural killer cell morphology	0	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0012176	HP:0012176	Abnormal natural killer cell morphology	0	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0012176	HP:0012176	Abnormal natural killer cell morphology	0	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0012176	HP:0012176	Abnormal natural killer cell morphology	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0012176	HP:0012176	Abnormal natural killer cell morphology	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0012176	HP:0012176	Abnormal natural killer cell morphology	0	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0012176	HP:0040089	Abnormal natural killer cell count	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0012176	HP:0040089	Abnormal natural killer cell count	1	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0012176	HP:0040089	Abnormal natural killer cell count	1	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0012176	HP:0040089	Abnormal natural killer cell count	1	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0012176	HP:0040089	Abnormal natural killer cell count	1	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0012176	HP:0040089	Abnormal natural killer cell count	1	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0012176	HP:0040089	Abnormal natural killer cell count	1	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20		4
HP:0012176	HP:0040089	Abnormal natural killer cell count	1	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0012176	HP:0040089	Abnormal natural killer cell count	1	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0012176	HP:0040089	Abnormal natural killer cell count	1	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0012176	HP:0040089	Abnormal natural killer cell count	1	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0012176	HP:0040089	Abnormal natural killer cell count	1	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0012176	HP:0040089	Abnormal natural killer cell count	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0012176	HP:0040089	Abnormal natural killer cell count	1	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0012176	HP:0040089	Abnormal natural killer cell count	1	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54		69
HP:0012176	HP:0040089	Abnormal natural killer cell count	1	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0012176	HP:0040089	Abnormal natural killer cell count	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0012176	HP:0040089	Abnormal natural killer cell count	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0012176	HP:0040089	Abnormal natural killer cell count	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0012176	HP:0040089	Abnormal natural killer cell count	1	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0012176	HP:0040089	Abnormal natural killer cell count	1	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040283 - Occasional	127
HP:0012176	HP:0040089	Abnormal natural killer cell count	1	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040283 - Occasional	50
HP:0012176	HP:0040089	Abnormal natural killer cell count	1	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0012176	HP:0040089	Abnormal natural killer cell count	1	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0012176	HP:0040089	Abnormal natural killer cell count	1	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040284 - Very rare	49
HP:0012176	HP:0040089	Abnormal natural killer cell count	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0012176	HP:0040089	Abnormal natural killer cell count	1	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0012176	HP:0040218	Reduced natural killer cell count	2	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0012176	HP:0040218	Reduced natural killer cell count	2	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0012176	HP:0040218	Reduced natural killer cell count	2	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0012176	HP:0040218	Reduced natural killer cell count	2	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome	.	79
HP:0012176	HP:0040218	Reduced natural killer cell count	2	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0012176	HP:0040218	Reduced natural killer cell count	2	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0012176	HP:0040218	Reduced natural killer cell count	2	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20		4
HP:0012176	HP:0500033	Abnormal natural killer subset distribution	2	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0012176	HP:0040218	Reduced natural killer cell count	2	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040281 - Very frequent	48
HP:0012176	HP:0040218	Reduced natural killer cell count	2	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0012176	HP:0500033	Abnormal natural killer subset distribution	2	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0012176	HP:0500033	Abnormal natural killer subset distribution	2	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0012176	HP:0040218	Reduced natural killer cell count	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0012176	HP:0040218	Reduced natural killer cell count	2	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0012176	HP:0040218	Reduced natural killer cell count	2	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54		69
HP:0012176	HP:0040218	Reduced natural killer cell count	2	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0012176	HP:0040218	Reduced natural killer cell count	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0012176	HP:0040218	Reduced natural killer cell count	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0012176	HP:0040218	Reduced natural killer cell count	2	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0012176	HP:0040218	Reduced natural killer cell count	2	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0012176	HP:0040218	Reduced natural killer cell count	2	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0012176	HP:0040218	Reduced natural killer cell count	2	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0012176	HP:0040218	Reduced natural killer cell count	2	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0012176	HP:0040218	Reduced natural killer cell count	2	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0012176	HP:0031410	Abnormal distribution of CD56 bright/dim natural killer cells	3	CL E G H
HP:0012176	HP:0040219	Absent natural killer cells	3	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0012176	HP:0040219	Absent natural killer cells	3	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0012176	HP:0040219	Absent natural killer cells	3	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040282 - Frequent	140