Cluster composition

Functions

Category	Name	IntersectionWithQuery	PValue	GenesInTerm	GenesInQuery	GenesInTermInQuery	ID
GeneOntologyMolecularFunction	aspartic endopeptidase activity, intramembrane cleaving	PSEN1 PSEN2	1.44e-04	8	46	2	GO:0042500
GeneOntologyMolecularFunction	phosphatidate phosphatase activity	PLPP5 PLPPR3	4.64e-04	14	46	2	GO:0008195
GeneOntologyMolecularFunction	metal ion transmembrane transporter activity	SLC8B1 SLC12A1 CLCA3P PSEN1 KCNH2 SLC13A5	6.57e-04	465	46	6	GO:0046873
GeneOntologyMolecularFunction	MHC class I receptor activity	KIR2DS5 KIR3DS1	7.76e-04	18	46	2	GO:0032393
GeneOntologyMolecularFunction	transmembrane signaling receptor activity	OR52B4 CD300LF OR4K17 GPR82 KIR2DS2 KIR2DS1 KIR2DS4 KIR2DS5 KIR3DS1 GLP2R	8.50e-04	1353	46	10	GO:0004888
GeneOntologyMolecularFunction	lipid phosphatase activity	PLPP5 PLPPR3	8.66e-04	19	46	2	GO:0042577
GeneOntologyMolecularFunction	RNA stem-loop binding	DDX56 DHX9	1.06e-03	21	46	2	GO:0035613
GeneOntologyBiologicalProcess	immune response-regulating signaling pathway	PSEN1 PSEN2 CD300LF KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	7.22e-06	615	46	9	GO:0002764
GeneOntologyBiologicalProcess	protein catabolic process at postsynapse	PSEN1 PSEN2	2.91e-05	4	46	2	GO:0140249
GeneOntologyBiologicalProcess	hair follicle maturation	PSEN1 PSEN2 NOM1	3.64e-05	29	46	3	GO:0048820
GeneOntologyBiologicalProcess	protein catabolic process at synapse	PSEN1 PSEN2	7.26e-05	6	46	2	GO:0140246
GeneOntologyBiologicalProcess	regulation of immune response	PSEN1 PSEN2 CD300LF KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1 DHX9	1.12e-04	1085	46	10	GO:0050776
GeneOntologyBiologicalProcess	Notch receptor processing	PSEN1 PSEN2	2.16e-04	10	46	2	GO:0007220
GeneOntologyCellularComponent	gamma-secretase complex	PSEN1 PSEN2	1.12e-04	7	49	2	GO:0070765
HumanPheno	Semantic dementia	PSEN1 PSEN2	8.85e-05	7	11	2	HP:0030219
HumanPheno	Finger agnosia	PSEN1 PSEN2	8.85e-05	7	11	2	HP:0010525
HumanPheno	Anomic aphasia	PSEN1 PSEN2	1.51e-04	9	11	2	HP:0030784
HumanPheno	Deposits immunoreactive to beta-amyloid protein	PSEN1 PSEN2	1.51e-04	9	11	2	HP:0003791
HumanPheno	Alzheimer disease	PSEN1 PSEN2	1.51e-04	9	11	2	HP:0002511
HumanPheno	Senile plaques	PSEN1 PSEN2	2.31e-04	11	11	2	HP:0100256
Domain	Peptidase_A22A	PSEN1 PSEN2	5.68e-06	2	45	2	IPR001108
Domain	Presenilin	PSEN1 PSEN2	5.68e-06	2	45	2	PF01080
Domain	ig	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	6.00e-06	190	45	6	PF00047
Domain	Immunoglobulin	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	6.00e-06	190	45	6	IPR013151
Domain	IG	CD300LF KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	6.09e-05	421	45	7	SM00409
Domain	Ig_sub	CD300LF KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	6.09e-05	421	45	7	IPR003599
Domain	Preselin/SPP	PSEN1 PSEN2	1.18e-04	7	45	2	IPR006639
Domain	PSN	PSEN1 PSEN2	1.18e-04	7	45	2	SM00730
Domain	Ig-like_dom	CD300LF KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	1.84e-04	503	45	7	IPR007110
Domain	XK_rel	XKR3 XKRX	3.08e-04	11	45	2	IPR018629
Domain	XK-related	XKR3 XKRX	3.08e-04	11	45	2	PF09815
Domain	ABC_A	ABCA3 ABCA9	3.69e-04	12	45	2	IPR026082
Domain	-	PLPP5 PLPPR3	8.47e-04	18	45	2	1.20.144.10
Domain	acidPPc	PLPP5 PLPPR3	8.47e-04	18	45	2	SM00014
Domain	P_Acid_Pase_2/haloperoxidase	PLPP5 PLPPR3	1.05e-03	20	45	2	IPR000326
Domain	PAP2	PLPP5 PLPPR3	1.05e-03	20	45	2	PF01569
Domain	IG_LIKE	CD300LF KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5	1.09e-03	491	45	6	PS50835
Domain	Ig-like_fold	CD300LF KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	1.39e-03	706	45	7	IPR013783
Domain	-	CD300LF KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR3DS1	4.90e-03	663	45	6	2.60.40.10
Domain	F-box-like	FBXW2 FBXL20	5.04e-03	44	45	2	PF12937
Domain	ABC_TRANSPORTER_2	ABCA3 ABCA9	5.97e-03	48	45	2	PS50893
Domain	ABC_tran	ABCA3 ABCA9	5.97e-03	48	45	2	PF00005
Domain	ABC_TRANSPORTER_1	ABCA3 ABCA9	6.21e-03	49	45	2	PS00211
Domain	ABC_transporter-like	ABCA3 ABCA9	6.46e-03	50	45	2	IPR003439
Domain	FBOX	FBXW2 FBXL20	6.97e-03	52	45	2	SM00256
Domain	F-box	FBXW2 FBXL20	1.14e-02	67	45	2	PF00646
Domain	FBOX	FBXW2 FBXL20	1.30e-02	72	45	2	PS50181
Domain	DEAD	DDX56 DHX9	1.34e-02	73	45	2	PF00270
Domain	DEAD/DEAH_box_helicase_dom	DDX56 DHX9	1.34e-02	73	45	2	IPR011545
Domain	F-box_dom	FBXW2 FBXL20	1.41e-02	75	45	2	IPR001810
Pathway	REACTOME_DAP12_INTERACTIONS	KIR2DS2 KIR2DS1 KIR2DS4 KIR2DS5 KIR3DS1	1.79e-07	46	40	5	M27151
Pathway	KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION	KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5	1.09e-04	88	40	4	M16004
Pathway	REACTOME_NONCANONICAL_ACTIVATION_OF_NOTCH3	PSEN1 PSEN2	2.17e-04	8	40	2	M27887
Pathway	REACTOME_NOTCH4_ACTIVATION_AND_TRANSMISSION_OF_SIGNAL_TO_THE_NUCLEUS	PSEN1 PSEN2	4.25e-04	11	40	2	M27882
Pathway	REACTOME_TGFBR3_PTM_REGULATION	PSEN1 PSEN2	4.25e-04	11	40	2	M48251
Pathway	KEGG_MEDICUS_REFERENCE_NOTCH_PROTEOLYTIC_ACTIVATION	PSEN1 PSEN2	4.25e-04	11	40	2	M47865
Pathway	WP_INCLUSION_BODY_MYOSITIS	PSEN1 PSEN2	4.25e-04	11	40	2	M42545
Pathway	REACTOME_REGULATED_PROTEOLYSIS_OF_P75NTR	PSEN1 PSEN2	4.25e-04	11	40	2	M2661
Pathway	KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY	KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5	5.95e-04	137	40	4	M5669
Pathway	KEGG_MEDICUS_VARIANT_MUTATION_CAUSED_ABERRANT_PSEN_TO_MGLUR5_CA2_APOPTOTIC_PATHWAY	PSEN1 PSEN2	9.19e-04	16	40	2	M47695
Pathway	REACTOME_NRIF_SIGNALS_CELL_DEATH_FROM_THE_NUCLEUS	PSEN1 PSEN2	9.19e-04	16	40	2	M7257
Pathway	REACTOME_ABC_TRANSPORTERS_IN_LIPID_HOMEOSTASIS	ABCA3 ABCA9	1.04e-03	17	40	2	MM14552
Pathway	REACTOME_ABC_TRANSPORTERS_IN_LIPID_HOMEOSTASIS	ABCA3 ABCA9	1.17e-03	18	40	2	M524
Pathway	REACTOME_CELL_DEATH_SIGNALLING_VIA_NRAGE_NRIF_AND_NADE	PSEN1 PSEN2 ARHGEF1	1.29e-03	76	40	3	M19832
Pathway	BIOCARTA_RHO_PATHWAY	ARHGAP1 ARHGEF1	1.59e-03	21	40	2	M1001
Pathway	REACTOME_NOTCH2_ACTIVATION_AND_TRANSMISSION_OF_SIGNAL_TO_THE_NUCLEUS	PSEN1 PSEN2	1.75e-03	22	40	2	M27210
Pubmed	[Genotype analysis of killer cell immunoglobulin-like receptors in Graves' disease patients].	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	2.62e-15	11	49	6	19664392
Pubmed	In contrast to other stimulatory natural killer cell immunoglobulin-like receptor loci, several KIR2DS5 alleles predominate in African Americans.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5	4.50e-15	5	49	5	19410616
Pubmed	Association of killer cell immunoglobulin-like receptor 2DL5 with systemic lupus erythematosus and accompanying infections.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	5.23e-15	12	49	6	20371502
Pubmed	[Relationship between CMV reactivation and KIR haplotype/HLA-Cw genotype in patients after unrelated-donor hematopoietic stem cell transplantation.].	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	5.23e-15	12	49	6	20137308
Pubmed	Distribution of killer cell immunoglobulin-like receptors (KIR) and their HLA-C ligands in two Iranian populations.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	5.23e-15	12	49	6	19936734
Pubmed	Association of killer cell immunoglobulin-like receptors with primary Sjogren's syndrome.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	5.23e-15	12	49	6	19181658
Pubmed	[Study on the polymorphism of killer cell immunoglobulin like receptor (KIR) gene with systemic lupus erythematosus of North population in China].	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	9.69e-15	13	49	6	18687225
Pubmed	KIR and HLA genotypes are associated with disease progression and survival following autologous hematopoietic stem cell transplantation for high-risk neuroblastoma.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	9.69e-15	13	49	6	19934297
Pubmed	Different KIRs confer susceptibility and protection to adults with latent autoimmune diabetes in Latvian and Asian Indian populations.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	9.69e-15	13	49	6	19120281
Pubmed	Frequencies of killer immunoglobulin-like receptor genotypes influence susceptibility to spontaneous abortion.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	1.69e-14	14	49	6	19875891
Pubmed	Multiple sclerosis associates with LILRA3 deletion in Spanish patients.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	1.69e-14	14	49	6	19421224
Pubmed	Distribution of killer cell immunoglobulin-like receptor genes in the Chinese Han population.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	1.69e-14	14	49	6	15896204
Pubmed	Killer cell immunoglobulin-like receptor gene diversity in a Caucasian population of southern Brazil.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	2.82e-14	15	49	6	20082646
Pubmed	Inhibitory KIR and specific HLA-C gene combinations confer susceptibility to or protection against chronic hepatitis B.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	2.82e-14	15	49	6	20643584
Pubmed	Killer cell immunoglobulin-like receptor genotype and killer cell immunoglobulin-like receptor-human leukocyte antigen C ligand compatibility affect the severity of hepatitis C virus recurrence after liver transplantation.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	2.82e-14	15	49	6	19326408
Pubmed	Disparate distribution of activating and inhibitory killer cell immunoglobulin-like receptor genes in patients with systemic lupus erythematosus.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	2.82e-14	15	49	6	19926642
Pubmed	Killer cell immunoglobulin-like receptors in HLA-B27-associated acute anterior uveitis, with and without axial spondyloarthropathy.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	2.82e-14	15	49	6	19850842
Pubmed	Natural killer-cell receptor polymorphisms and posttransplantation non-Hodgkin lymphoma.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	2.82e-14	15	49	6	20207982
Pubmed	Killer immunoglobulin-like receptors (KIR2DL2 and/or KIR2DS2) in presence of their ligand (HLA-C1 group) protect against chronic myeloid leukaemia.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	2.82e-14	15	49	6	19493232
Pubmed	[Killer cell immunoglobin-like receptor and its ligand gene polymorphisms in Hunan Han patients with type 1 diabetes].	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	2.82e-14	15	49	6	20356536
Pubmed	Killer cell immunoglobulin-like receptor gene-cluster 3DS1-2DL5-2DS1-2DS5 predisposes susceptibility to Vogt-Koyanagi-Harada syndrome in Japanese individuals.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	4.51e-14	16	49	6	19897003
Pubmed	Influence of activating and inhibitory killer immunoglobulin-like receptors on predisposition to recurrent miscarriages.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	4.51e-14	16	49	6	19279038
Pubmed	No association of KIR genes with Behcet's disease.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	4.51e-14	16	49	6	17868255
Pubmed	A study of the killer cell immunoglobulin-like receptor gene KIR2DS1 in a Caucasoid Brazilian population with psoriasis vulgaris.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	4.51e-14	16	49	6	18643961
Pubmed	Distribution of killer cell immunoglobulin-like receptor (KIR) genotypes in patients with familial Mediterranean fever.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	4.51e-14	16	49	6	19309280
Pubmed	Diversity of killer cell immunoglobulin-like receptor genes in Indonesian populations of Java, Kalimantan, Timor and Irian Jaya.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	4.51e-14	16	49	6	19000141
Pubmed	Diversity of killer cell immunoglobulin-like receptor genes in Indonesian populations of Sumatra, Sulawesi and Moluccas Islands.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	4.51e-14	16	49	6	20670355
Pubmed	Activating killer cell immunoglobulin-like receptor genes' association with recurrent miscarriage.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	4.51e-14	16	49	6	19527230
Pubmed	Report from the killer immunoglobulin-like receptor (KIR) anthropology component of the 15th International Histocompatibility Workshop: worldwide variation in the KIR loci and further evidence for the co-evolution of KIR and HLA.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	4.51e-14	16	49	6	20331834
Pubmed	Polymorphisms of KIR gene and HLA-C alleles: possible association with susceptibility to HLA-B27-positive patients with ankylosing spondylitis.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	4.51e-14	16	49	6	20652381
Pubmed	Asian population frequencies and haplotype distribution of killer cell immunoglobulin-like receptor (KIR) genes among Chinese, Malay, and Indian in Singapore.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	4.51e-14	16	49	6	18668235
Pubmed	HLA-DQA1*0505 sharing and killer immunoglobulin-like receptors in sub fertile couples: report from the 15th International Histocompatibility Workshop.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	4.51e-14	16	49	6	20210919
Pubmed	The beneficial impact of missing KIR ligands and absence of donor KIR2DS3 gene on outcome following unrelated hematopoietic SCT for myeloid leukemia in the Chinese population.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	6.96e-14	17	49	6	20173784
Pubmed	The role of killer immunoglobulin-like receptor haplotypes on the outcome of unrelated donor haematopoietic SCT for thalassaemia.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	6.96e-14	17	49	6	20173792
Pubmed	[Analysis of natural killer cell immunoglobulin-like receptor genes in Chinese].	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	6.96e-14	17	49	6	19218127
Pubmed	Role of killer cell immunoglobulin-like receptor gene content and human leukocyte antigen-C group in susceptibility to human T-lymphotropic virus 1-associated myelopathy/tropical spastic paraparesis in Peru.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	6.96e-14	17	49	6	20483367
Pubmed	[Effects of killer immunoglobulin-like receptor and human leukocyte antigen class I ligand on the prognosis of related donor hematopoietic stem cell transplantation].	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	6.96e-14	17	49	6	19968064
Pubmed	KIR genes and KIR ligands affect occurrence of acute GVHD after unrelated, 12/12 HLA matched, hematopoietic stem cell transplantation.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	6.96e-14	17	49	6	19169284
Pubmed	Association of KIR2DS1 and KIR2DS3 with fatal outcome in Ebola virus infection.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	6.96e-14	17	49	6	20878400
Pubmed	Killer cell immunoglobulin-like receptor gene diversity in the Tibetan ethnic minority group of China.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	6.96e-14	17	49	6	20650299
Pubmed	Killer cell immunoglobulin-like receptor gene polymorphisms in patients with leukemia: possible association with susceptibility to the disease.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	6.96e-14	17	49	6	19450876
Pubmed	Distribution of killer-cell immunoglobulin-like receptor genes in Eastern mainland Chinese Han and Taiwanese Han populations.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	6.96e-14	17	49	6	19761533
Pubmed	Combination of KIR 2DL2 and HLA-C1 (Asn 80) confers susceptibility to type 1 diabetes in Latvians.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	1.04e-13	18	49	6	19046302
Pubmed	Effect of killer immunoglobulin-like receptors in the response to combined treatment in patients with chronic hepatitis C virus infection.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	1.04e-13	18	49	6	19846535
Pubmed	Killer immunoglobulin-like receptor ligand HLA-Bw4 protects against multiple sclerosis.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	1.04e-13	18	49	6	19630074
Pubmed	Influence of HLA class I and HLA-KIR compound genotypes on HIV-2 infection and markers of disease progression in a Manjako community in West Africa.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	1.04e-13	18	49	6	20519398
Pubmed	Association of killer cell immunoglobulin-like receptors and human leukocyte antigen-C genotypes in South Brazilian with type 1 diabetes.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	1.04e-13	18	49	6	20580654
Pubmed	Association between killer-cell immunoglobulin-like receptor genotypes and leprosy in Brazil.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	1.52e-13	19	49	6	18778326
Pubmed	KIR and HLA gene combinations in Vogt-Koyanagi-Harada disease.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	1.52e-13	19	49	6	18571006
Pubmed	Associations between genes for killer immunoglobulin-like receptors and their ligands in patients with solid tumors.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	1.52e-13	19	49	6	20600442
Pubmed	Killer cell immunoglobulin-like receptor gene diversity in a Southern Brazilian population from the state of Paraná.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	1.52e-13	19	49	6	18848853
Pubmed	HLA and KIR frequencies in Sicilian Centenarians.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	2.17e-13	20	49	6	20426625
Pubmed	Compound KIR-HLA genotype analyses in the Iranian population by a novel PCR-SSP assay.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	2.17e-13	20	49	6	20193031
Pubmed	NullHap--a versatile application to estimate haplotype frequencies from unphased genotypes in the presence of null alleles.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5	2.51e-13	8	49	5	18681957
Pubmed	Activating killer cell immunoglobulin-like receptors 3DS1 and 2DS1 protect against developing the severe form of recurrent respiratory papillomatosis.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	3.04e-13	21	49	6	19861144
Pubmed	Distribution of KIR genes in the population of unrelated individuals homozygous for ancestral haplotype AH8.1 (HLA-A1B8DR3).	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	4.18e-13	22	49	6	20492596
Pubmed	Alternatively spliced forms of human killer inhibitory receptors.	KIR2DS2 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	5.64e-13	9	49	5	8662091
Pubmed	Combination of KIR and HLA gene variants augments the risk of developing birdshot chorioretinopathy in HLA-A*29-positive individuals.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR3DS1	5.64e-13	9	49	5	18340360
Pubmed	Different patterns of evolution in the centromeric and telomeric regions of group A and B haplotypes of the human killer cell Ig-like receptor locus.	KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	1.13e-12	10	49	5	21206914
Pubmed	Natural killer cells and immune surveillance.	KIR2DS2 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	2.07e-12	11	49	5	18830515
Pubmed	Immunogenetic characteristics of patients with autoimmune gastritis.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	2.64e-12	29	49	6	20082482
Pubmed	[Genotype and haplotype analysis of killer cell immunoglobulin-like receptors in ankylosing spondylitis].	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR3DS1	8.92e-12	14	49	5	19489269
Pubmed	Donors with group B KIR haplotypes improve relapse-free survival after unrelated hematopoietic cell transplantation for acute myelogenous leukemia.	KIR2DS2 KIR2DS1 KIR2DS4 KIR2DS5 KIR3DS1	8.92e-12	14	49	5	18945962
Pubmed	Role of human leukocyte antigen, killer-cell immunoglobulin-like receptors, and cytokine gene polymorphisms in leptospirosis.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	8.96e-12	35	49	6	19683555
Pubmed	KIR genes polymorphism in Argentinean Caucasoid and Amerindian populations.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5	1.34e-11	15	49	5	17498266
Pubmed	[Polymorphism of killer cell immunoglobulin-like receptors gene family in Zhejiang Han population].	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5	1.94e-11	16	49	5	16403292
Pubmed	Natural killer cell receptor repertoire and their ligands, and the risk of CMV infection after kidney transplantation.	KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	2.75e-11	17	49	5	19032228
Pubmed	Signatures of natural selection and coevolution between killer cell immunoglobulin-like receptors (KIR) and HLA class I genes.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5	3.80e-11	18	49	5	20200544
Pubmed	Distribution of killer cell immunoglobulin-like receptor genes in the mestizo population from Venezuela.	KIR2DS2 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	3.80e-11	18	49	5	20210918
Pubmed	Associations of killer cell immunoglobulin-like receptor genes with complications of rheumatoid arthritis.	KIR2DS2 KIR2DS1 KIR2DS3 KIR3DS1	5.20e-11	6	49	4	17882223
Pubmed	Killer cell immunoglobulin-like receptor gene polymorphism in lymphoproliferative diseases of granular lymphocytes in a Japanese population.	KIR2DS2 KIR2DS1 KIR2DS3 KIR3DS1	5.20e-11	6	49	4	20528243
Pubmed	Molecular clones of the p58 NK cell receptor reveal immunoglobulin-related molecules with diversity in both the extra- and intracellular domains.	KIR2DS2 KIR2DS3 KIR2DS4 KIR2DS5	4.36e-10	9	49	4	7749980
Pubmed	Polymorphisms of killer cell immunoglobulin-like receptor gene: possible association with susceptibility to or clearance of hepatitis B virus infection in Chinese Han population.	KIR2DS2 KIR2DS1 KIR2DS3 KIR3DS1	4.36e-10	9	49	4	18074414
Pubmed	Assessment of killer cell immunoglobulinlike receptor expression and corresponding HLA class I phenotypes demonstrates heterogenous KIR expression independent of anticipated HLA class I ligands.	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS5	7.25e-10	10	49	4	12559621
Pubmed	[Polymorphism of killer cell immunoglobulin-like receptor gene and its correlation with leukemia].	KIR2DS2 KIR2DS4 KIR2DS5 KIR3DS1	1.71e-09	12	49	4	17490516
Pubmed	NK cell responses to cytomegalovirus infection lead to stable imprints in the human KIR repertoire and involve activating KIRs.	KIR2DS2 KIR2DS4 KIR3DS1	2.63e-09	3	49	3	23325834
Pubmed	Activating killer immunoglobulin-like receptor incompatibilities enhance graft-versus-host disease and affect survival after allogeneic hematopoietic stem cell transplantation.	KIR2DS1 KIR2DS3 KIR2DS5	2.63e-09	3	49	3	19500138
Pubmed	Association of killer cell immunoglobulin-like receptors with pulmonary tuberculosis in Chinese Han.	KIR2DS1 KIR2DS3 KIR3DS1	2.63e-09	3	49	3	22653583
Pubmed	KIR2DS1, 2DS5, 3DS1 and KIR2DL5 are associated with the risk of head and neck squamous cell carcinoma in Iranians.	KIR2DS1 KIR2DS5 KIR3DS1	2.63e-09	3	49	3	29408295
Pubmed	A novel surface molecule homologous to the p58/p50 family of receptors is selectively expressed on a subset of human natural killer cells and induces both triggering of cell functions and proliferation.	KIR2DS3 KIR2DS4 KIR2DS5	2.63e-09	3	49	3	8765026
Pubmed	Systemic lupus erythematosus: association with KIR and SLC11A1 polymorphisms, ethnic predisposition and influence in clinical manifestations at onset revealed by ancestry genetic markers in an urban Brazilian population.	KIR2DS2 KIR2DS5 KIR3DS1	1.05e-08	4	49	3	21233146
Pubmed	Recombinant structures expand and contract inter and intragenic diversification at the KIR locus.	KIR2DS1 KIR2DS3 KIR3DS1	1.05e-08	4	49	3	23394822
Pubmed	A role for KIR gene variants other than KIR2DS1 in conferring susceptibility to psoriasis.	KIR2DS1 KIR2DS3 KIR2DS5	1.05e-08	4	49	3	16829306
Pubmed	Killer immunoglobulin-like receptor gene repertoire influences viral load of primary human cytomegalovirus infection in renal transplant patients.	KIR2DS1 KIR2DS5 KIR3DS1	1.05e-08	4	49	3	25253288
Pubmed	KIR gene in ethnic and Mestizo populations from Mexico.	KIR2DS1 KIR2DS5 KIR3DS1	2.62e-08	5	49	3	16698429
Pubmed	Genetic associations of killer immunoglobulin like receptors and class I human leukocyte antigens on childhood acute lymphoblastic leukemia among north Indians.	KIR2DS2 KIR2DS3 KIR3DS1	2.62e-08	5	49	3	26472014
Pubmed	Diversity of the repertoire of p58 killer cell inhibitory receptors in a single individual.	KIR2DS2 KIR2DS1 KIR2DS4	2.62e-08	5	49	3	10424431
Pubmed	Activation of a subset of human NK cells upon contact with Plasmodium falciparum-infected erythrocytes.	KIR2DS2 KIR2DS4 KIR2DS5	9.16e-08	7	49	3	14607943
Pubmed	Identification of seventeen novel KIR variants: fourteen of them from two non-Caucasian donors.	KIR2DS2 KIR2DS1 KIR2DS4	9.16e-08	7	49	3	11169255
Pubmed	Functionally and structurally distinct NK cell receptor repertoires in the peripheral blood of two human donors.	KIR2DS1 KIR2DS3 KIR3DS1	9.16e-08	7	49	3	9430220
Pubmed	KIR haplotype content at the allele level in 77 Northern Irish families.	KIR2DS2 KIR2DS4 KIR3DS1	1.46e-07	8	49	3	17200871
Pubmed	Human diversity in killer cell inhibitory receptor genes.	KIR2DS1 KIR2DS3 KIR3DS1	1.46e-07	8	49	3	9430221
Pubmed	Presenilin 2 modulates endoplasmic reticulum (ER)-mitochondria interactions and Ca2+ cross-talk.	PSEN1 PSEN2	1.94e-06	2	49	2	21285369
Pubmed	Novel PSEN1 and PSEN2 Mutations Identified in Sporadic Early-onset Alzheimer Disease and Posterior Cortical Atrophy.	PSEN1 PSEN2	1.94e-06	2	49	2	33973882
Pubmed	Novel role of presenilins in maturation and transport of integrin beta 1.	PSEN1 PSEN2	1.94e-06	2	49	2	18293935
Pubmed	The human leukocyte antigen (HLA)-C-specific "activatory" or "inhibitory" natural killer cell receptors display highly homologous extracellular domains but differ in their transmembrane and intracytoplasmic portions.	KIR2DS2 KIR2DS1	1.94e-06	2	49	2	8627176
Pubmed	gamma-Secretase complexes containing N- and C-terminal fragments of different presenilin origin retain normal gamma-secretase activity.	PSEN1 PSEN2	1.94e-06	2	49	2	16135086
Pubmed	Presenilin-1 mutations sensitize neurons to DNA damage-induced death by a mechanism involving perturbed calcium homeostasis and activation of calpains and caspase-12.	PSEN1 PSEN2	1.94e-06	2	49	2	12460542
Pubmed	Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo.	PSEN1 PSEN2	1.94e-06	2	49	2	8755489
Pubmed	KIR2DS5 in the presence of HLA-C C2 protects against endometriosis.	KIR2DS4 KIR2DS5	1.94e-06	2	49	2	25724317
Interaction	KIR2DS2 interactions	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS5	1.62e-06	37	47	4	int:KIR2DS2
Interaction	KIR2DL2 interactions	KIR2DS2 KIR2DS3 KIR3DS1	3.34e-06	13	47	3	int:KIR2DL2
Interaction	KIR2DS5 interactions	KIR2DS2 KIR2DS3 KIR2DS5	6.52e-06	16	47	3	int:KIR2DS5
Interaction	KIR2DS3 interactions	KIR2DS2 KIR2DS3 KIR2DS5	1.32e-05	20	47	3	int:KIR2DS3
Interaction	KIR2DS1 interactions	KIR2DS2 KIR2DS1	3.18e-05	4	47	2	int:KIR2DS1
Interaction	KIR3DP1 interactions	KIR2DS2 KIR2DS5	3.18e-05	4	47	2	int:KIR3DP1
Cytoband	19q13.4	MBOAT7 KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	2.76e-12	79	49	7	19q13.4
GeneFamily	CD molecules\|Killer cell immunoglobulin like receptors	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 KIR3DS1	8.75e-13	18	37	6	620
GeneFamily	Blood group antigens\|XK related family	XKR3 XKRX	2.22e-04	11	37	2	955
GeneFamily	ATP binding cassette subfamily A	ABCA3 ABCA9	3.65e-04	14	37	2	805
GeneFamily	ADAM metallopeptidase domain containing\|CD molecules	KIR2DS2 KIR2DS1 KIR2DS4 KIR2DS5	8.32e-03	394	37	4	471
Coexpression	GSE26495_PD1HIGH_VS_PD1LOW_CD8_TCELL_DN	PSEN2 KIR2DS2 KIR2DS1 KIR2DS4 KIR2DS5 GLP2R	1.45e-06	190	49	6	M4662
Coexpression	KAZMIN_PBMC_P_FALCIPARUM_RTSS_AS01_AGE_UNKNOWN_CORRELATED_WITH_PROTECTION_56DY_NEGATIVE	KIR2DS2 KIR2DS1 KIR2DS3 KIR2DS5	2.15e-06	49	49	4	M40909
Coexpression	GSE2405_S_AUREUS_VS_A_PHAGOCYTOPHILUM_NEUTROPHIL_DN	ABCA3 KCNH2 FBXL20 ZZEF1 XKRX	3.57e-05	200	49	5	M6208
Drug	S-182	PSEN1 PSEN2	4.35e-06	2	48	2	CID003033995
Drug	pristane	KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5 DHX9	1.69e-05	152	48	5	CID000015979
Drug	D-Au	KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5	2.10e-05	77	48	4	CID000277822
Drug	Aa1	KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5	2.83e-05	83	48	4	CID009549188
Drug	isopentenyl diphosphate	KIR2DS1 KIR2DS3 KIR2DS4 KIR2DS5	3.72e-05	89	48	4	CID000001195
Drug	bunazosin	KIR2DS1 KIR2DS3 KIR2DS4	4.18e-05	32	48	3	CID000002472
Drug	N-acetylfucosamine	PSEN2 DHX9	4.33e-05	5	48	2	CID000193723
Drug	reazide	PSEN1 PSEN2	4.33e-05	5	48	2	CID000008820
Disease	Alzheimer's disease 3 (implicated_via_orthology)	PSEN1 PSEN2	1.98e-06	2	42	2	DOID:0110042 (implicated_via_orthology)
Disease	early-onset Parkinson's disease (implicated_via_orthology)	PSEN1 PSEN2	2.96e-05	6	42	2	DOID:0060894 (implicated_via_orthology)
Disease	Asphyxia Neonatorum	PSEN1 PSEN2	2.96e-05	6	42	2	C0004045
Disease	functional impairment measurement	ST3GAL1 ZZEF1	4.13e-05	7	42	2	EFO_0005412
Disease	Early-onset autosomal dominant Alzheimer disease	PSEN1 PSEN2	4.13e-05	7	42	2	cv:CN043596
Disease	Alzheimer disease	PSEN1 PSEN2	5.51e-05	8	42	2	cv:C0002395
Disease	epilepsy (implicated_via_orthology)	SLC12A1 KCNH2 SLC13A5 DHX9	8.53e-05	163	42	4	DOID:1826 (implicated_via_orthology)
Disease	1-Methylhistidine measurement	OTOGL FBXL20	2.65e-04	17	42	2	EFO_0021543
Disease	asthma, cardiovascular disease	MED24 FBXL20	8.39e-04	30	42	2	EFO_0000319, MONDO_0004979
Disease	Primary dilated cardiomyopathy	PSEN1 PSEN2	1.08e-03	34	42	2	cv:C0007193
Disease	personality trait	ST3GAL1 THUMPD2	1.42e-03	39	42	2	EFO_0004365
Disease	Familial dilated cardiomyopathy	PSEN1 PSEN2	1.80e-03	44	42	2	C0340427
Disease	calcium measurement	PSEN2 SHOC1 SLC13A5 FBXL20 ABCA9	1.91e-03	628	42	5	EFO_0004838
Disease	Cardiomyopathy	PSEN1 PSEN2	2.05e-03	47	42	2	cv:C0878544
Disease	Cardiomyopathy, Dilated	PSEN1 PSEN2	2.14e-03	48	42	2	C0007193
Disease	Cardiomyopathy, Familial Idiopathic	PSEN1 PSEN2	2.32e-03	50	42	2	C1449563
Disease	Alzheimer's disease (implicated_via_orthology)	PSEN1 PSEN2	3.00e-03	57	42	2	DOID:10652 (implicated_via_orthology)

Protein segments in the cluster

Peptide	Gene	Start	Entry
TALRKVLSLKQLLFP	ARHGEF1	826	Q92888
KKPFLTGLVVFLLIV	ABCA9	326	Q8IUA7
VIKELLKFSPTLGIL	ANKRD29	226	Q8N6D5
ISFLIPSLLLLVVFK	ABCA3	1151	Q99758
KQPSILLFQFIKSVL	RIC1	396	Q4ADV7
SVVKIPFTILLFFLL	KIR2DS2	251	P43631
LKLICFLIPFLLSLK	ANKAR	316	Q7Z5J8
SVVKIPFTILLFFLL	KIR2DS4	251	P43632
PIIFLLLDKTFKKTL	GPR82	306	Q96P67
KTFRLKLPALLALTA	KCNH2	161	Q12809
LLKLSLIRGKSLLFV	DDX56	251	Q9NY93
GTIFPIIFLLKRLTF	OR52B4	156	Q8NGK2
LASFATPKVILNLLK	OR4K17	76	Q8NGC6
VLLISIPIGFLFKKA	MBOAT7	11	Q96N66
SVVKLPFTILLFFLL	KIR2DS3	251	Q14952
FLFNDLLVILKLCPK	IQSEC3	896	Q9UPP2
SVVKLPFTILLFFLL	KIR2DS5	251	Q14953
VTVNFFIFLKILKLL	GLP2R	351	O95838
KLLKLSVLLPLIFTI	CD300LF	151	Q8TDQ1
KLLLTKRVSPISFFL	ADGRF2	36	Q8IZF7
TVCLFLVQKKPLIFL	KLB	986	Q86Z14
LLKRDFLKLLPLELS	FBXW2	51	Q9UKT8
FKSFVILFVTPLLLL	SLC13A5	11	Q86YT5
LVTPLQLLLFASKKV	DHX9	1061	Q08211
LFILLKTTFGLKILF	OTOGL	581	Q3ZCN5
ALKVFKLPVEFLLLL	SLC8B1	326	Q6J4K2
SVVKIPFTILLFFLL	KIR2DS1	251	Q14954
QITKLLILKLRYFTP	TRDMT1	331	O14717
TLLLLAIFKKALPAL	PSEN1	421	P49768
LRLFPLFVLALLKQK	SEC24A	896	O95486
KKLPKELLLRIFSFL	FBXL20	26	Q96IG2
SVVKIPFTILLFFLL	KIR3DS1	346	Q14943
TAFTFLKIPQVLVKL	MED24	306	O75448
FIKTLLILFKPLISF	ARHGAP1	166	Q07960
KRTLKVLTFLVLFIF	ST3GAL1	6	Q11201
TLLSRLKLFLVKDPL	SHOC1	106	Q5VXU9
GLTLLIPYILTLRKK	SLC12A1	921	Q13621
LLIFDILKKLIGTFT	NOM1	481	Q5C9Z4
ILKLYLVSKNFLLPS	HERC2P3	401	Q9BVR0
FLPIVVLIFKSILFL	STEAP1	296	Q9UHE8
KVILFLSLLLSPVLK	CLCA3P	6	Q9Y6N3
KLLKPILVFAFAIAA	PLPPR3	231	Q6T4P5
LSPLSLIFLAKFLKK	PLPP5	66	Q8NEB5
FLLIKKQFPLIISSV	THUMPD2	71	Q9BTF0
LTLLLLAVFKKALPA	PSEN2	401	P49810
ILPVRTLLLKFFSKI	TEX10	516	Q9NXF1
KPITFLSLKLRLVNI	RALGAPB	651	Q86X10
FIASLKLKSLPVLLI	XKR3	256	Q5GH77
KLKSLPVLLIIYFVS	XKR3	261	Q5GH77
IEKSLLLLKFLPTGI	ZZEF1	1421	O43149
FSATLKLKAVPFLVL	XKRX	261	Q6PP77
KLKAVPFLVLNFLII	XKRX	266	Q6PP77