Cluster composition

Functions

Category	Name	IntersectionWithQuery	PValue	GenesInTerm	GenesInQuery	GenesInTermInQuery	ID
GeneOntologyMolecularFunction	amino-acid betaine transmembrane transporter activity	SLC22A4 SLC22A5	6.43e-05	4	66	2	GO:0015199
GeneOntologyMolecularFunction	carnitine transmembrane transporter activity	SLC22A4 SLC22A5	1.60e-04	6	66	2	GO:0015226
GeneOntologyMolecularFunction	potassium channel inhibitor activity	WNK3 WNK2	5.81e-04	11	66	2	GO:0019870
Domain	TSP_1	THSD7A ADAMTS3 SPON1 SEMA5A SSPOP	2.25e-06	63	63	5	PF00090
Domain	TSP1	THSD7A ADAMTS3 SPON1 SEMA5A SSPOP	2.63e-06	65	63	5	SM00209
Domain	TSP1_rpt	THSD7A ADAMTS3 SPON1 SEMA5A SSPOP	2.63e-06	65	63	5	IPR000884
Domain	TSP1	THSD7A ADAMTS3 SPON1 SEMA5A SSPOP	2.63e-06	65	63	5	PS50092
Domain	Cul7	CUL7 HERC2	3.35e-05	3	63	2	PF11515
Domain	-	RASA4 RASA4B	3.35e-05	3	63	2	4.10.1130.10
Domain	CPH_domain	CUL7 HERC2	3.35e-05	3	63	2	IPR021097
Domain	Kinase_OSR1/WNK_CCT	WNK3 WNK2	1.67e-04	6	63	2	IPR024678
Domain	OSR1_C	WNK3 WNK2	1.67e-04	6	63	2	PF12202
Domain	APC_su10/DOC_dom	CUL7 HERC2	2.33e-04	7	63	2	IPR004939
Domain	DOC	CUL7 HERC2	2.33e-04	7	63	2	PS51284
Domain	APC10	CUL7 HERC2	2.33e-04	7	63	2	SM01337
Domain	ANAPC10	CUL7 HERC2	2.33e-04	7	63	2	PF03256
Domain	BTK	RASA4 RASA4B	3.97e-04	9	63	2	SM00107
Domain	Znf_Btk_motif	RASA4 RASA4B	3.97e-04	9	63	2	IPR001562
Domain	BTK	RASA4 RASA4B	3.97e-04	9	63	2	PF00779
Domain	ZF_BTK	RASA4 RASA4B	3.97e-04	9	63	2	PS51113
Domain	Orgcat_transp/SVOP	SLC22A4 SLC22A5	3.97e-04	9	63	2	IPR004749
Domain	SAM_2	ARAP3 PPFIBP2 WDSUB1	4.10e-04	43	63	3	PF07647
Domain	Quinoprotein_ADH-like_supfam	WDR75 EML6 WDSUB1	7.60e-04	53	63	3	IPR011047
Domain	CYTOCHROME_B5_2	FADS1 HERC2	8.53e-04	13	63	2	PS50255
Domain	CYTOCHROME_B5_1	FADS1 HERC2	8.53e-04	13	63	2	PS00191
Domain	ARM-type_fold	NCAPD3 THADA CUL7 ARMCX5 ECPAS RALGAPA2	9.74e-04	339	63	6	IPR016024
Domain	RasGAP	RASA4 RASA4B	9.93e-04	14	63	2	SM00323
Domain	Cyt-b5	FADS1 HERC2	9.93e-04	14	63	2	PF00173
Domain	Cyt_B5-like_heme/steroid-bd	FADS1 HERC2	9.93e-04	14	63	2	IPR001199
Domain	Cyt-b5	FADS1 HERC2	9.93e-04	14	63	2	SM01117
Domain	-	FADS1 HERC2	9.93e-04	14	63	2	3.10.120.10
Domain	RasGAP_CS	RASA4 RASA4B	9.93e-04	14	63	2	IPR023152
Domain	RasGAP	RASA4 RASA4B	1.14e-03	15	63	2	PF00616
Domain	RAS_GTPASE_ACTIV_1	RASA4 RASA4B	1.14e-03	15	63	2	PS00509
Domain	RAS_GTPASE_ACTIV_2	RASA4 RASA4B	1.14e-03	15	63	2	PS50018
Domain	KRAB	ZNF394 ZNF197 ZNF432 ZNF223 ZNF226 ZNF284	1.29e-03	358	63	6	PS50805
Domain	KRAB	ZNF394 ZNF197 ZNF432 ZNF223 ZNF226 ZNF284	1.29e-03	358	63	6	PF01352
Domain	VWD	SUSD2 SSPOP	1.30e-03	16	63	2	SM00216
Domain	VWF_type-D	SUSD2 SSPOP	1.30e-03	16	63	2	IPR001846
Domain	-	RASA4 RASA4B	1.30e-03	16	63	2	1.10.506.10
Domain	VWFD	SUSD2 SSPOP	1.30e-03	16	63	2	PS51233
Domain	VWD	SUSD2 SSPOP	1.30e-03	16	63	2	PF00094
Domain	KRAB	ZNF394 ZNF197 ZNF432 ZNF223 ZNF226 ZNF284	1.50e-03	369	63	6	SM00349
Domain	KRAB	ZNF394 ZNF197 ZNF432 ZNF223 ZNF226 ZNF284	1.52e-03	370	63	6	IPR001909
Domain	Rib_L2_dom2	CUL7 HERC2	1.65e-03	18	63	2	IPR014722
Domain	-	CUL7 HERC2	1.65e-03	18	63	2	2.30.30.30
Domain	RasGAP_dom	RASA4 RASA4B	1.65e-03	18	63	2	IPR001936
Domain	-	CUL7 HERC2 SSPOP	1.92e-03	73	63	3	2.60.120.260
Domain	WD40_repeat	WDR75 CIAO1 EML6 HERC2 WDSUB1	2.23e-03	272	63	5	IPR001680
Domain	SRCR	SSC5D DMBT1	2.26e-03	21	63	2	PF00530
Domain	WD_REPEATS_1	WDR75 CIAO1 EML6 HERC2 WDSUB1	2.45e-03	278	63	5	PS00678
Domain	WD_REPEATS_2	WDR75 CIAO1 EML6 HERC2 WDSUB1	2.49e-03	279	63	5	PS50082
Domain	WD_REPEATS_REGION	WDR75 CIAO1 EML6 HERC2 WDSUB1	2.49e-03	279	63	5	PS50294
Domain	SUGAR_TRANSPORT_1	SLC22A4 SLC22A5	2.95e-03	24	63	2	PS00216
Domain	SR	SSC5D DMBT1	3.20e-03	25	63	2	SM00202
Domain	-	SSC5D DMBT1	3.20e-03	25	63	2	3.10.250.10
Domain	SAM	ARAP3 PPFIBP2 WDSUB1	3.27e-03	88	63	3	SM00454
Domain	Rho_GTPase_activation_prot	ARAP3 RASA4 RASA4B	3.27e-03	88	63	3	IPR008936
Domain	SRCR_1	SSC5D DMBT1	3.45e-03	26	63	2	PS00420
Domain	SRCR_2	SSC5D DMBT1	3.45e-03	26	63	2	PS50287
Domain	SRCR-like_dom	SSC5D DMBT1	3.45e-03	26	63	2	IPR017448
Domain	SRCR	SSC5D DMBT1	3.72e-03	27	63	2	IPR001190
Domain	Galactose-bd-like	CUL7 HERC2 SSPOP	3.94e-03	94	63	3	IPR008979
Domain	SAM_DOMAIN	ARAP3 PPFIBP2 WDSUB1	4.06e-03	95	63	3	PS50105
Domain	SAM	ARAP3 PPFIBP2 WDSUB1	4.30e-03	97	63	3	IPR001660
Domain	Sugar_transporter_CS	SLC22A4 SLC22A5	5.20e-03	32	63	2	IPR005829
Domain	-	WDR75 CIAO1 EML6 SEMA5A WDSUB1	5.28e-03	333	63	5	2.130.10.10
Domain	WD40/YVTN_repeat-like_dom	WDR75 CIAO1 EML6 SEMA5A WDSUB1	5.41e-03	335	63	5	IPR015943
Domain	-	ARAP3 PPFIBP2 WDSUB1	5.51e-03	106	63	3	1.10.150.50
Domain	MFS_sugar_transport-like	SLC22A4 SLC22A5	6.55e-03	36	63	2	IPR005828
Domain	Sugar_tr	SLC22A4 SLC22A5	6.55e-03	36	63	2	PF00083
Pathway	REACTOME_O_GLYCOSYLATION_OF_TSR_DOMAIN_CONTAINING_PROTEINS	THSD7A ADAMTS3 SPON1 SEMA5A SSPOP	1.57e-07	39	46	5	M27417
Pathway	REACTOME_O_GLYCOSYLATION_OF_TSR_DOMAIN_CONTAINING_PROTEINS	THSD7A ADAMTS3 SPON1 SEMA5A SSPOP	1.57e-07	39	46	5	MM15165
Pathway	REACTOME_DISEASES_ASSOCIATED_WITH_O_GLYCOSYLATION_OF_PROTEINS	THSD7A ADAMTS3 SPON1 SEMA5A SSPOP	2.65e-06	68	46	5	M27303
Pathway	REACTOME_O_LINKED_GLYCOSYLATION	THSD7A ADAMTS3 SPON1 SEMA5A SSPOP	2.68e-05	109	46	5	MM15164
Pathway	REACTOME_O_LINKED_GLYCOSYLATION	THSD7A ADAMTS3 SPON1 SEMA5A SSPOP	2.93e-05	111	46	5	M27416
Pathway	REACTOME_DISEASES_OF_GLYCOSYLATION	THSD7A ADAMTS3 SPON1 SEMA5A SSPOP	9.82e-05	143	46	5	M27275
Pathway	REACTOME_ORGANIC_CATION_TRANSPORT	SLC22A4 SLC22A5	2.88e-04	8	46	2	MM15191
Pathway	REACTOME_ORGANIC_CATION_TRANSPORT	SLC22A4 SLC22A5	4.61e-04	10	46	2	M27450
Pathway	REACTOME_ORGANIC_CATION_ANION_ZWITTERION_TRANSPORT	SLC22A4 SLC22A5	6.73e-04	12	46	2	MM15192
Pathway	REACTOME_ORGANIC_CATION_ANION_ZWITTERION_TRANSPORT	SLC22A4 SLC22A5	1.06e-03	15	46	2	M888
Pathway	REACTOME_DISEASES_OF_METABOLISM	THSD7A ADAMTS3 SPON1 SEMA5A SSPOP	1.28e-03	250	46	5	M27554
Pubmed	O-fucosylation of thrombospondin type 1 repeats restricts epithelial to mesenchymal transition (EMT) and maintains epiblast pluripotency during mouse gastrulation.	THSD7A ADAMTS3 SPON1 SEMA5A SSPOP	3.28e-07	75	66	5	20637190
Pubmed	Pleiotropy in microdeletion syndromes: neurologic and spermatogenic abnormalities in mice homozygous for the p6H deletion are likely due to dysfunction of a single gene.	OCA2 HERC2	3.55e-06	2	66	2	7604002
Pubmed	The effects of mutant p-alleles on the reproductive system in mice.	OCA2 HERC2	3.55e-06	2	66	2	4435358
Pubmed	Haplotype in the IBD5 region is associated with refractory Crohn's disease in Slovenian patients and modulates expression of the SLC22A5 gene.	SLC22A4 SLC22A5	3.55e-06	2	66	2	21695374
Pubmed	Molecular and functional characterization of organic cation/carnitine transporter family in mice.	SLC22A4 SLC22A5	3.55e-06	2	66	2	11010964
Pubmed	Further insight into the global variability of the OCA2-HERC2 locus for human pigmentation from multiallelic markers.	OCA2 HERC2	3.55e-06	2	66	2	34795370
Pubmed	Analysis of the influence of OCTN1/2 variants within the IBD5 locus on disease susceptibility and growth indices in early onset inflammatory bowel disease.	SLC22A4 SLC22A5	3.55e-06	2	66	2	16469794
Pubmed	[Possible role of selected IGR and SLC22A4/SLC22A5 loci in development of inflammatory bowel diseases].	SLC22A4 SLC22A5	3.55e-06	2	66	2	19581171
Pubmed	A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice.	OCA2 HERC2	3.55e-06	2	66	2	9689098
Pubmed	Polymorphisms in the organic cation transporter genes SLC22A4 and SLC22A5 and Crohn's disease in a New Zealand Caucasian cohort.	SLC22A4 SLC22A5	3.55e-06	2	66	2	16519742
Pubmed	Linkage and association analysis of spectrophotometrically quantified hair color in Australian adolescents: the effect of OCA2 and HERC2.	OCA2 HERC2	3.55e-06	2	66	2	18528436
Pubmed	Effects on sperm morphology by alleles at the pink-eyed dilution locus in mice.	OCA2 HERC2	3.55e-06	2	66	2	863229
Pubmed	Gene expression of carnitine organic cation transporters 1 and 2 (OCTN) is downregulated in patients with ulcerative colitis.	SLC22A4 SLC22A5	3.55e-06	2	66	2	21910182
Pubmed	Association of SLC22A4/5 polymorphisms with steroid responsiveness of inflammatory bowel disease in Japan.	SLC22A4 SLC22A5	3.55e-06	2	66	2	18274826
Pubmed	Associations of OCA2-HERC2 SNPs and haplotypes with human pigmentation characteristics in the Brazilian population.	OCA2 HERC2	3.55e-06	2	66	2	28081795
Pubmed	Functional activity of L-carnitine transporters in human airway epithelial cells.	SLC22A4 SLC22A5	3.55e-06	2	66	2	26607009
Pubmed	OCTNs: will the real IBD5 gene please stand up?	SLC22A4 SLC22A5	3.55e-06	2	66	2	16773684
Pubmed	Association of the organic cation transporter OCTN genes with Crohn's disease in the Spanish population.	SLC22A4 SLC22A5	3.55e-06	2	66	2	16333318
Pubmed	Association of the OCTN1/1672T variant with increased risk for colorectal cancer in young individuals and ulcerative colitis patients.	SLC22A4 SLC22A5	3.55e-06	2	66	2	21793125
Pubmed	CAPRI regulates Ca(2+)-dependent inactivation of the Ras-MAPK pathway.	RASA4 RASA4B	3.55e-06	2	66	2	11448776
Pubmed	Expression patterns of the organic cation/carnitine transporter family in adult murine brain.	SLC22A4 SLC22A5	3.55e-06	2	66	2	17576045
Pubmed	Organic cation/carnitine transporter family expression patterns in adult murine heart.	SLC22A4 SLC22A5	3.55e-06	2	66	2	19233567
Pubmed	Substrate discrimination by ergothioneine transporter SLC22A4 and carnitine transporter SLC22A5: gain-of-function by interchange of selected amino acids.	SLC22A4 SLC22A5	3.55e-06	2	66	2	19814996
Pubmed	Functional genetic variation in the basal promoter of the organic cation/carnitine transporters OCTN1 (SLC22A4) and OCTN2 (SLC22A5).	SLC22A4 SLC22A5	3.55e-06	2	66	2	19141711
Pubmed	Expression and localization of carnitine/organic cation transporter OCTN1 and OCTN2 in ocular epithelium.	SLC22A4 SLC22A5	3.55e-06	2	66	2	18641280
Pubmed	SLC22A4 and SLC22A5 gene polymorphisms and Crohn's disease in the Chinese Han population.	SLC22A4 SLC22A5	3.55e-06	2	66	2	19659785
Pubmed	Characterization of organic cation/carnitine transporter family in human sperm.	SLC22A4 SLC22A5	3.55e-06	2	66	2	12788076
Pubmed	Contribution of the IBD5 locus to Crohn's disease in the Swedish population.	SLC22A4 SLC22A5	3.55e-06	2	66	2	17340776
Pubmed	Molecular characterization of radiation- and chemically induced mutations associated with neuromuscular tremors, runting, juvenile lethality, and sperm defects in jdf2 mice.	OCA2 HERC2	3.55e-06	2	66	2	10441737
Pubmed	Prevalence of SLC22A4 1672T and SLC22A5 -207C combination defined TC haplotype in Hungarian ulcerative colitis patients.	SLC22A4 SLC22A5	3.55e-06	2	66	2	17387389
Pubmed	Association between OCTN1/2 gene polymorphisms (1672C-T, 207G-C) and susceptibility of Crohn's disease: a meta-analysis.	SLC22A4 SLC22A5	3.55e-06	2	66	2	21706137
Pubmed	A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.	OCA2 HERC2	3.55e-06	2	66	2	18252222
Pubmed	Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.	OCA2 HERC2	3.55e-06	2	66	2	18252221
Pubmed	Evidence for association of OCTN genes and IBD5 with ulcerative colitis.	SLC22A4 SLC22A5	3.55e-06	2	66	2	16361305
Pubmed	Variants at the OCA2/HERC2 locus affect time to first cutaneous squamous cell carcinoma in solid organ transplant recipients collected using two different study designs.	OCA2 HERC2	3.55e-06	2	66	2	28456133
Pubmed	An essential function for the calcium-promoted Ras inactivator in Fcgamma receptor-mediated phagocytosis.	RASA4 RASA4B	3.55e-06	2	66	2	16041389
Pubmed	Evidence for the association of the SLC22A4 and SLC22A5 genes with type 1 diabetes: a case control study.	SLC22A4 SLC22A5	3.55e-06	2	66	2	16796743
Pubmed	Genotyping of five single nucleotide polymorphisms in the OCA2 and HERC2 genes associated with blue-brown eye color in the Japanese population.	OCA2 HERC2	3.55e-06	2	66	2	19472299
Pubmed	Tooth loss and adiposity: possible role of carnitine transporter (OCTN1/2) polymorphisms in women but not in men.	SLC22A4 SLC22A5	3.55e-06	2	66	2	32964310
Pubmed	Oxaliplatin transport mediated by organic cation/carnitine transporters OCTN1 and OCTN2 in overexpressing human embryonic kidney 293 cells and rat dorsal root ganglion neurons.	SLC22A4 SLC22A5	3.55e-06	2	66	2	21606177
Pubmed	Genetic and molecular analysis of recessive alleles at the pink-eyed dilution (p) locus of the mouse.	OCA2 HERC2	3.55e-06	2	66	2	1495987
Pubmed	Direct or indirect association in a complex disease: the role of SLC22A4 and SLC22A5 functional variants in Crohn disease.	SLC22A4 SLC22A5	3.55e-06	2	66	2	16835882
Pubmed	Transport of ipratropium, an anti-chronic obstructive pulmonary disease drug, is mediated by organic cation/carnitine transporters in human bronchial epithelial cells: implications for carrier-mediated pulmonary absorption.	SLC22A4 SLC22A5	3.55e-06	2	66	2	20020740
Pubmed	Expression and functional analysis of intestinal organic cation/L-carnitine transporter (OCTN) in Crohn's disease.	SLC22A4 SLC22A5	3.55e-06	2	66	2	22325173
Pubmed	Polymorphisms in OCTN1 and OCTN2 transporters genes are associated with prolonged time to progression in unresectable gastrointestinal stromal tumours treated with imatinib therapy.	SLC22A4 SLC22A5	3.55e-06	2	66	2	23127916
Pubmed	Gender is a major factor explaining discrepancies in eye colour prediction based on HERC2/OCA2 genotype and the IrisPlex model.	OCA2 HERC2	3.55e-06	2	66	2	23601698
Pubmed	LPS-induced inflammation delays the transportation of ASP+ due to down-regulation of OCTN1/2 in alveolar epithelial cells.	SLC22A4 SLC22A5	3.55e-06	2	66	2	31591905
Pubmed	Differential expansion of zinc-finger transcription factor loci in homologous human and mouse gene clusters.	ZNF223 ZNF226 ZNF284	7.27e-06	20	66	3	12743021
Pubmed	Expression of the organic cation/carnitine transporter family (Octn1,-2 and-3) in mdx muscle and heart: Implications for early carnitine therapy in Duchenne muscular dystrophy to improve cellular carnitine homeostasis.	SLC22A4 SLC22A5	1.06e-05	3	66	2	32070725
Pubmed	Variants of OCTN1-2 cation transporter genes are associated with both Crohn's disease and ulcerative colitis.	SLC22A4 SLC22A5	1.06e-05	3	66	2	16441470
Pubmed	IGR2096a_1 T and IGR2198a_1 C alleles on IBD5 locus of chromosome 5q31 region confer risk for Crohn's disease in Hungarian patients.	SLC22A4 SLC22A5	1.06e-05	3	66	2	19214536
Pubmed	The contribution of OCTN1/2 variants within the IBD5 locus to disease susceptibility and severity in Crohn's disease.	SLC22A4 SLC22A5	1.06e-05	3	66	2	16344054
Pubmed	OCTN and CARD15 gene polymorphism in Chinese patients with inflammatory bowel disease.	SLC22A4 SLC22A5	1.06e-05	3	66	2	18756601
Pubmed	A risk haplotype in the Solute Carrier Family 22A4/22A5 gene cluster influences phenotypic expression of Crohn's disease.	SLC22A4 SLC22A5	1.06e-05	3	66	2	15685536
Pubmed	Role of SLC22A4, SLC22A5, and RUNX1 genes in rheumatoid arthritis.	SLC22A4 SLC22A5	1.06e-05	3	66	2	16652416
Pubmed	Functional variants of OCTN cation transporter genes are associated with Crohn disease.	SLC22A4 SLC22A5	1.06e-05	3	66	2	15107849
Pubmed	CD28 inhibits T cell adhesion by recruiting CAPRI to the plasma membrane.	RASA4 RASA4B	1.06e-05	3	66	2	25637021
Pubmed	WNK3 positively regulates epithelial calcium channels TRPV5 and TRPV6 via a kinase-dependent pathway.	WNK3 WNK2	1.06e-05	3	66	2	18768590
Pubmed	Contribution of OCTN variants within the IBD5 locus to pediatric onset Crohn's disease.	SLC22A4 SLC22A5	1.06e-05	3	66	2	16771961
Pubmed	Polymorphisms in the DLG5 and OCTN cation transporter genes in Crohn's disease.	SLC22A4 SLC22A5	1.06e-05	3	66	2	15955786
Pubmed	Lack of association between IBD5 and Crohn's disease in Japanese patients demonstrates population-specific differences in inflammatory bowel disease.	SLC22A4 SLC22A5	1.06e-05	3	66	2	16373276
Pubmed	Polymorphisms in the IBD5 locus are associated with Crohn disease in pediatric Ashkenazi Jewish patients.	SLC22A4 SLC22A5	1.06e-05	3	66	2	19412005
Pubmed	Evidence for common genetic control in pathways of inflammation for Crohn's disease and psoriatic arthritis.	SLC22A4 SLC22A5	1.06e-05	3	66	2	16255050
Pubmed	Deorphaning a solute carrier 22 family member, SLC22A15, through functional genomic studies.	SLC22A4 SLC22A5	1.06e-05	3	66	2	33124720
Pubmed	Prevalence of SLC22A4, SLC22A5 and CARD15 gene mutations in Hungarian pediatric patients with Crohn's disease.	SLC22A4 SLC22A5	1.06e-05	3	66	2	17006998
Pubmed	Abnormal spermiogenesis in two pink-eyed sterile mutants in the mouse.	OCA2 HERC2	1.06e-05	3	66	2	5565073
Pubmed	Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations.	OCA2 HERC2	1.06e-05	3	66	2	23118974
Pubmed	Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype.	OCA2 HERC2	1.06e-05	3	66	2	19208107
Pubmed	Role of CARD15, DLG5 and OCTN genes polymorphisms in children with inflammatory bowel diseases.	SLC22A4 SLC22A5	2.12e-05	4	66	2	17451203
Pubmed	Transport of gabapentin by LAT1 (SLC7A5).	SLC22A4 SLC22A5	2.12e-05	4	66	2	23567998
Pubmed	A third human carnitine/organic cation transporter (OCTN3) as a candidate for the 5q31 Crohn's disease locus (IBD5).	SLC22A4 SLC22A5	2.12e-05	4	66	2	12535646
Pubmed	Risk factors for perianal Crohn's disease: the role of genotype, phenotype, and ethnicity.	SLC22A4 SLC22A5	2.12e-05	4	66	2	17509030
Pubmed	rs1004819 is the main disease-associated IL23R variant in German Crohn's disease patients: combined analysis of IL23R, CARD15, and OCTN1/2 variants.	SLC22A4 SLC22A5	2.12e-05	4	66	2	17786191
Pubmed	Human eye colour and HERC2, OCA2 and MATP.	OCA2 HERC2	2.12e-05	4	66	2	20457063
Pubmed	Runt-related transcription factor 3 is associated with ulcerative colitis and shows epistasis with solute carrier family 22, members 4 and 5.	SLC22A4 SLC22A5	2.12e-05	4	66	2	18668679
Pubmed	Association of organic cation transporter risk haplotype with perianal penetrating Crohn's disease but not with susceptibility to IBD.	SLC22A4 SLC22A5	2.12e-05	4	66	2	16344053
Pubmed	Ca2+-dependent monomer and dimer formation switches CAPRI Protein between Ras GTPase-activating protein (GAP) and RapGAP activities.	RASA4 RASA4B	2.12e-05	4	66	2	21460216
Pubmed	Axon morphogenesis and maintenance require an evolutionary conserved safeguard function of Wnk kinases antagonizing Sarm and Axed.	WNK3 WNK2	2.12e-05	4	66	2	34384519
Pubmed	Single nucleotide polymorphisms of OCTN1, OCTN2, and DLG5 genes in Greek patients with Crohn's disease.	SLC22A4 SLC22A5	2.12e-05	4	66	2	16437728
Pubmed	Relationship between CARD15, SLC22A4/5, and DLG5 polymorphisms and early-onset inflammatory bowel diseases: an Italian multicentric study.	SLC22A4 SLC22A5	2.12e-05	4	66	2	16670523
Pubmed	Identification of an alternatively spliced variant of Ca2+-promoted Ras inactivator as a possible regulator of RANKL shedding.	RASA4 RASA4B	2.12e-05	4	66	2	16234249
Pubmed	WNK kinases, a novel protein kinase subfamily in multi-cellular organisms.	WNK3 WNK2	2.12e-05	4	66	2	11571656
Pubmed	Human hypertension caused by mutations in WNK kinases.	WNK3 WNK2	2.12e-05	4	66	2	11498583
Pubmed	Genetic analysis of three important genes in pigmentation and melanoma susceptibility: CDKN2A, MC1R and HERC2/OCA2.	OCA2 HERC2	2.12e-05	4	66	2	20629734
Pubmed	An integrated deletion and physical map encompassing l71Rl, a chromosome 7 locus required for peri-implantation survival in the mouse.	OCA2 HERC2	3.53e-05	5	66	2	10903848
Pubmed	Genetic susceptibility has a more important role in pediatric-onset Crohn's disease than in adult-onset Crohn's disease.	SLC22A4 SLC22A5	3.53e-05	5	66	2	17476680
Pubmed	The ATG16L1 gene variants rs2241879 and rs2241880 (T300A) are strongly associated with susceptibility to Crohn's disease in the German population.	SLC22A4 SLC22A5	3.53e-05	5	66	2	18162085
Pubmed	Replication of interleukin 23 receptor and autophagy-related 16-like 1 association in adult- and pediatric-onset inflammatory bowel disease in Italy.	SLC22A4 SLC22A5	3.53e-05	5	66	2	18698678
Pubmed	Lack of evidence for association of primary sclerosing cholangitis and primary biliary cirrhosis with risk alleles for Crohn's disease in Polish patients.	SLC22A4 SLC22A5	5.29e-05	6	66	2	18715515
Pubmed	Evaluation of potential models for imprinted and nonimprinted components of human chromosome 15q11-q13 syndromes by fine-structure homology mapping in the mouse.	OCA2 HERC2	5.29e-05	6	66	2	8095339
Pubmed	PDZK1 directly regulates the function of organic cation/carnitine transporter OCTN2.	SLC22A4 SLC22A5	5.29e-05	6	66	2	15523054
Pubmed	Inflammatory response gene polymorphisms and their relationship with colorectal cancer risk.	SLC22A4 SLC22A5	5.29e-05	6	66	2	18433468
Pubmed	Refined genomic localization and ethnic differences observed for the IBD5 association with Crohn's disease.	SLC22A4 SLC22A5	5.29e-05	6	66	2	17213842
Pubmed	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	THADA FADS1 SLC22A4 SLC22A5	7.22e-05	116	66	4	21102463
Pubmed	Serum and glucocorticoid-induced kinase (SGK) 1 and the epithelial sodium channel are regulated by multiple with no lysine (WNK) family members.	WNK3 WNK2	7.40e-05	7	66	2	20525693
Pubmed	Genetic polymorphisms associated with inflammatory bowel disease do not confer risk for primary sclerosing cholangitis.	SLC22A4 SLC22A5	7.40e-05	7	66	2	17100974
Pubmed	Genetic mapping in mice identifies DMBT1 as a candidate modifier of mammary tumors and breast cancer risk.	SPON1 DMBT1	7.40e-05	7	66	2	17525270
Pubmed	The CUL3-KLHL3 E3 ligase complex mutated in Gordon's hypertension syndrome interacts with and ubiquitylates WNK isoforms: disease-causing mutations in KLHL3 and WNK4 disrupt interaction.	WNK3 WNK2	9.86e-05	8	66	2	23387299
Pubmed	KLHL2 interacts with and ubiquitinates WNK kinases.	WNK3 WNK2	9.86e-05	8	66	2	23838290
Pubmed	Comparative genome mapping in the sequence-based era: early experience with human chromosome 7.	RASA4 RASA4B	9.86e-05	8	66	2	10810084
Cytoband	Ensembl 112 genes in cytogenetic band chr19q13	SSC5D KASH5 ZNF432 ZNF223 ZNF226 ZNF284 NLRP8	1.61e-03	1192	66	7	chr19q13
GeneFamily	Armadillo repeat containing\|Protein phosphatase 1 regulatory subunits	THADA ARMCX4 ARMCX5	1.66e-04	43	45	3	409
GeneFamily	Pleckstrin homology domain containing\|SH2 domain containing\|C2 and RasGAP domain containing	RASA4 RASA4B	2.69e-04	10	45	2	830
GeneFamily	Sterile alpha motif domain containing	ARAP3 PPFIBP2 WDSUB1	1.36e-03	88	45	3	760
GeneFamily	WD repeat domain containing	WDR75 CIAO1 EML6 WDSUB1	4.03e-03	262	45	4	362
ToppCell	NS-critical-d_16-33-Myeloid-Mast_cell\|d_16-33 / Location, Severity, dps_group, Lineage and Cell class of Upper airway (combined)	SSC5D FADS1 THSD7A ADAMTS3 CRLF2 WNK3	1.40e-07	160	66	6	c61869d9dbba250270e59366e15af204e5b4395d
ToppCell	(01)_Cycling_Basal_(homeostasis)-(1)_24hpi\|(01)_Cycling_Basal_(homeostasis) / shred by cell type and Timepoint	NAA25 EML6 PKHD1 ARMCX4	3.81e-06	71	66	4	6aa56b0daaeb5e0ae30619f9c6945c8e42899b27
ToppCell	3'-Broncho-tracheal-Endothelial-Blood_vessel_EC-vein_endothelial_cell-EC_venous_pulmonary-EC_venous_pulmonary_L.2.2.1.0\|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5	ARAP3 THSD7A RASA4 RASA4B RALGAPA2	5.39e-06	170	66	5	1a568efcff9c39b3f709b55a05d24710450a2657
ToppCell	3'-Broncho-tracheal-Endothelial-Blood_vessel_EC-vein_endothelial_cell-EC_venous_pulmonary\|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5	ARAP3 THSD7A RASA4 RASA4B RALGAPA2	5.39e-06	170	66	5	66d41d794790e621d72ac37af995510537103c9c
ToppCell	facs-Thymus-Epithelium-3m-Myeloid-macrophage\|Thymus / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation	PPFIBP2 ACSS1 ARMCX5 ECPAS NUDT15	6.55e-06	177	66	5	c2b8a3a149d70f77612759dea34df9e43953c566
ToppCell	facs-Thymus-Epithelium-3m-Myeloid-macrophage\|Thymus / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation	PPFIBP2 ACSS1 ARMCX5 ECPAS NUDT15	6.55e-06	177	66	5	384f841aa7b2d05815af7885e481f5affc55d897
ToppCell	facs-Thymus-Epithelium-3m-Myeloid\|Thymus / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation	PPFIBP2 ACSS1 ARMCX5 ECPAS NUDT15	6.55e-06	177	66	5	0e9e44119653abfd270e602e5e477a15e774638f
ToppCell	Control-Endothelial-VE_Peribronchial\|Endothelial / Disease state, Lineage and Cell class	FAP ADAMTS3 RASA4 SLC22A4 RASA4B	8.55e-06	187	66	5	5429ae85942b8ec3895cceb63c663de3c24ca064
ToppCell	facs-Heart-LV-3m-Mesenchymal\|Heart / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation	SSC5D FAP THSD7A SUSD2 SPON1	9.48e-06	191	66	5	b7a57691a4742070cee640e285c1f4d0da95baf1
Disease	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1	OCA2 HERC2	4.20e-06	2	61	2	227220
Disease	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	OCA2 HERC2	4.20e-06	2	61	2	cv:C1856895
Disease	coronary artery disease	FAP NAA25 THADA THSD7A KIF1A ADAMTS3 SUSD2 SLC22A4 PKHD1 SEMA5A WNK2 EPG5	5.07e-06	1194	61	12	EFO_0001645
Disease	suntan, skin pigmentation	OCA2 HERC2	2.52e-05	4	61	2	EFO_0003784, EFO_0004279
Disease	Coxsackievirus Infections	SLC22A4 SLC22A5	6.27e-05	6	61	2	C0010246
Disease	pseudohypoaldosteronism (implicated_via_orthology)	WNK3 WNK2	6.27e-05	6	61	2	DOID:4479 (implicated_via_orthology)
Disease	Myocarditis	SLC22A4 SLC22A5	6.27e-05	6	61	2	C0027059
Disease	Carditis	SLC22A4 SLC22A5	6.27e-05	6	61	2	C0869523
Disease	acetylcarnitine measurement	SLC22A4 SLC22A5	1.17e-04	8	61	2	EFO_0021038
Disease	butyrylcarnitine measurement	SLC22A4 SLC22A5	1.17e-04	8	61	2	EFO_0020010
Disease	nervonoylcarnitine (C24:1) measurement	SLC22A4 SLC22A5	1.50e-04	9	61	2	EFO_0800549
Disease	hair colour measurement, eye colour measurement, skin pigmentation measurement	OCA2 HERC2	1.87e-04	10	61	2	EFO_0007009, EFO_0007822, EFO_0009764
Disease	pigmentation disease (is_implicated_in)	OCA2 HERC2	2.28e-04	11	61	2	DOID:10123 (is_implicated_in)
Disease	lignoceroylcarnitine (C24) measurement	SLC22A4 SLC22A5	2.28e-04	11	61	2	EFO_0800541
Disease	prostate carcinoma, type 2 diabetes mellitus	THADA UBAP2 KNL1	2.52e-04	59	61	3	EFO_0001663, MONDO_0005148
Disease	hair colour measurement	THADA PPFIBP2 PKHD1 SLA2 OCA2 HERC2 EPG5	2.72e-04	615	61	7	EFO_0007822
Disease	tryptophan betaine measurement	SLC22A4 SLC22A5	2.74e-04	12	61	2	EFO_0021017
Disease	hexanoylcarnitine measurement	SLC22A4 SLC22A5	2.74e-04	12	61	2	EFO_0021040
Disease	arachidonoylcarnitine (C20:4) measurement	FADS1 SLC22A4	2.74e-04	12	61	2	EFO_0800544
Disease	homostachydrine measurement	SLC22A4 SLC22A5	3.23e-04	13	61	2	EFO_0021164
Disease	dihomo-linolenoylcarnitine (C20:3n3 or 6) measurement	SLC22A4 SLC22A5	3.23e-04	13	61	2	EFO_0800547
Disease	cerotoylcarnitine (C26) measurement	SLC22A4 SLC22A5	3.23e-04	13	61	2	EFO_0800542
Disease	hair color	PPFIBP2 PKHD1 OCA2 HERC2 CRISPLD1	4.62e-04	311	61	5	EFO_0003924
Disease	primary autosomal recessive microcephaly (is_implicated_in)	NCAPD3 KNL1	4.95e-04	16	61	2	DOID:0070296 (is_implicated_in)
Disease	oleoylcarnitine measurement	SLC22A4 SLC22A5	7.03e-04	19	61	2	EFO_0021043
Disease	skin sensitivity to sun	OCA2 HERC2	7.03e-04	19	61	2	EFO_0004795
Disease	level of Sphingomyelin (d38:2) in blood serum	FADS1 ADAMTS3	7.03e-04	19	61	2	OBA_2045179
Disease	neuropsychological test	NCAPD3 ACSS1 ZNF197 FER1L6	7.47e-04	197	61	4	EFO_0003926
Disease	Autosomal Recessive Primary Microcephaly	NCAPD3 KNL1	9.46e-04	22	61	2	C3711387
Disease	age at voice drop	THSD7A ECPAS	9.46e-04	22	61	2	EFO_0007888
Disease	neutrophil count, eosinophil count	THADA FADS1 SLC22A4 EML6	9.98e-04	213	61	4	EFO_0004833, EFO_0004842
Disease	level of Sphingomyelin (d40:2) in blood serum	FADS1 ADAMTS3	1.03e-03	23	61	2	OBA_2045181
Disease	metabolite measurement	FADS1 ZNF394 SLC22A4 SLC22A5 PKD1L2 CAPN11	1.04e-03	560	61	6	EFO_0004725
Disease	stearoylcarnitine measurement	SLC22A4 SLC22A5	1.13e-03	24	61	2	EFO_0021045
Disease	Vitiligo	FAP FADS1 HERC2	1.21e-03	101	61	3	EFO_0004208
Disease	suntan	SLA2 OCA2 HERC2	1.28e-03	103	61	3	EFO_0004279
Disease	Malignant neoplasm of breast	NAA25 ARAP3 ZNF432 OCA2 COLGALT2 HERC2 NLRP8 EPG5	1.60e-03	1074	61	8	C0006142
Disease	obsolete_red blood cell distribution width	FADS1 ATAD2B SLC22A4 SLC22A5 WDSUB1 WNK3 KNL1 CAPN11 EPG5	1.71e-03	1347	61	9	EFO_0005192
Disease	asthma, cardiovascular disease	SLC22A4 SLC22A5	1.76e-03	30	61	2	EFO_0000319, MONDO_0004979
Disease	granulocyte count	THADA FADS1 SLC22A4 EML6	1.90e-03	254	61	4	EFO_0007987

Protein segments in the cluster

Peptide	Gene	Start	Entry
VLCEVNWVSVLSDAW	EPG5	2091	Q9HCE0
VVGDSRCTLVDTWWQ	ACSS1	431	Q9NUB1
SCTDEDEMWDWTTSI	ARAP3	1306	Q8WWN8
WSDSAREWEEVASDI	CAPN11	331	Q9UMQ6
AVIGSWCWTEEKADI	ARMCX4	1741	Q5H9R4
KSSDEDEENICSWFW	ARMCX5	161	Q6P1M9
LCVEAWDWDLVSRND	RASA4	196	O43374
ITAEESWEDSSADWE	OCA2	121	Q04671
LCVEAWDWDLVSRND	RASA4B	196	C9J798
CGVWQWEEVIHETSE	KASH5	396	Q8N6L0
WEECAQRETWEEAAL	NUDT15	56	Q9NV35
VVNVPLCQEDCEEWW	IZUMO1R	126	A6ND01
EVGAITEETEACDWW	RPS6KC1	971	Q96S38
TEETEACDWWSLGAV	RPS6KC1	976	Q96S38
ITWDQVETASWAEVV	NLRP8	71	Q86W28
QTLCLTDDDTVWSWG	HERC2	4156	O95714
IGDWWEAVSETVRAT	ATAD2B	836	Q9ULI0
EECNLWTEVWQENVP	ECPAS	1501	Q5VYK3
CICEEDNTSVVWFWL	COX5B	91	P10606
EDTEECEHLTLAEWW	CUL7	481	Q14999
AHIEWLDDTSCNVVW	NCBP3	151	Q53F19
SLSEWDVVEWSDDQA	KNL1	2131	Q8NG31
VWCETSDFITIAWLV	MRGPRX3	171	Q96LB0
SDWSEVTCWQRGEIR	CRLF2	201	Q9HC73
VLSSLTEWEELINEW	RALGAPA2	626	Q2PPJ7
AQWSTERVCAWLEDF	PPFIBP2	556	Q8ND30
HCVFWDEVQETWDDS	PKD1L2	1281	Q7Z442
DEETQLDIVGIWWTV	FRG1	36	Q14331
IQECTHPLWVAEEWE	ADAMTS3	901	O15072
VECWNPDTNTWTSLE	KLHL28	356	Q9NXS3
ELERSAESWAESCLW	CRISPLD1	91	Q9H336
TWDEVAQRSGCEERW	FADS1	21	O60427
TVTALDTERGVWEAW	KLHDC9	106	Q8NEP7
EIEKIEWDTWTCVLG	EML6	1166	Q6ZMW3
TIWDNETVATDWDRT	COLGALT2	576	Q8IYK4
TWGTVCDDSWTIQEA	DMBT1	1906	Q9UGM3
STVVTEWNLVCEDNW	SLC22A4	126	Q9H015
STIVTEWNLVCEDDW	SLC22A5	126	O76082
EVQWTERECELALWA	KIF1A	696	Q12756
TIADESAENVIDWWS	FER1L6	1201	Q2WGJ9
PIDCELTEWSQWSEC	SPON1	666	Q9HCB6
VAWARTQCQAWEELE	SUSD2	286	Q9UGT4
EQWLWSVLEEIKCSD	THADA	1136	Q6YHU6
DGRWCEWTETIRVEE	SSPOP	16	A2VEC9
IVSEDGDWWTVLSEV	SLA2	61	Q9H6Q3
VITKECQVSEWSEWS	THSD7A	356	Q9UPZ6
EESWWSGLVIIIAVC	PRIMA1	86	Q86XR5
TSPESWQFDCTDLWE	PKHD1	651	P08F94
EVWHDQRWGTVCDDS	SSC5D	481	A1L4H1
EWSDWSECEASGVQV	SEMA5A	901	Q13591
ATCSRDKSVWVWEVD	CIAO1	121	O76071
LEWVDTVWELDFTET	NCAPD3	21	P42695
SVLSICDFREDWQTW	FAP	316	Q12884
EEWTTEDWTEDLSET	UBAP2	256	Q5T6F2
DFEEECEWQVLASQW	ZNF197	296	O14709
TFEDTAVSLTWEEWE	ZNF394	156	Q53GI3
EGWSCQQIWEEIASD	ZNF223	96	Q9UK11
SFEEIVTIWDSVTWE	WDR75	516	Q8IWA0
VTIWDSVTWELKCTF	WDR75	521	Q8IWA0
HCWEVDVGTSTEWDL	RFPL2	241	O75678
DRESEEELSCWQIWQ	ZNF226	91	Q9NYT6
EDVTVEFTWEEWQLL	ZNF432	11	O94892
DWSEEDVSTWLCAQD	WDSUB1	331	Q8N9V3
KGLDTETWVEVAWCE	WNK2	211	Q9Y3S1
QLAWETELCWDVFEG	TLR5	486	O60602
EEWSCQQIWEQTASE	ZNF284	96	Q2VY69
DTETWVEVAWCELQD	WNK3	166	Q9BYP7
IDVWRETGDETTVWQ	NAA25	476	Q14CX7