Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6556
Gene name	Solute carrier family 11 member 1
Gene symbol	SLC11A1
Synonyms (NCBI Gene)	LSHNRAMPNRAMP1
Chromosome	2
Chromosome location	2q35
Summary	This gene is a member of the solute carrier family 11 (proton-coupled divalent metal ion transporters) family and encodes a multi-pass membrane protein. The protein functions as a divalent transition metal (iron and manganese) transporter involved in iron

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SNP ID	Visualize variation	Clinical significance	Consequence
rs17235409	G>A,C	Risk-factor	Coding sequence variant, missense variant, non coding transcript variant

139

Show/Hide all (139)

miRTarBase ID	miRNA	Experiments	Reference
MIRT621346	hsa-miR-6873-5p	HITS-CLIP	23824327
MIRT621345	hsa-miR-6760-5p	HITS-CLIP	23824327
MIRT621344	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT621343	hsa-miR-4419a	HITS-CLIP	23824327
MIRT621342	hsa-miR-4510	HITS-CLIP	23824327
MIRT621341	hsa-miR-6127	HITS-CLIP	23824327
MIRT621340	hsa-miR-6129	HITS-CLIP	23824327
MIRT621339	hsa-miR-6130	HITS-CLIP	23824327
MIRT621338	hsa-miR-6133	HITS-CLIP	23824327
MIRT621337	hsa-miR-196a-3p	HITS-CLIP	23824327
MIRT621336	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT621335	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT621334	hsa-miR-182-5p	HITS-CLIP	23824327
MIRT621333	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT491491	hsa-miR-1908-3p	PAR-CLIP	23592263
MIRT491490	hsa-miR-1199-3p	PAR-CLIP	23592263
MIRT491488	hsa-miR-6853-5p	PAR-CLIP	23592263
MIRT491489	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT491487	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT621346	hsa-miR-6873-5p	HITS-CLIP	23824327
MIRT621345	hsa-miR-6760-5p	HITS-CLIP	23824327
MIRT621344	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT621343	hsa-miR-4419a	HITS-CLIP	23824327
MIRT621342	hsa-miR-4510	HITS-CLIP	23824327
MIRT621341	hsa-miR-6127	HITS-CLIP	23824327
MIRT621340	hsa-miR-6129	HITS-CLIP	23824327
MIRT621339	hsa-miR-6130	HITS-CLIP	23824327
MIRT621338	hsa-miR-6133	HITS-CLIP	23824327
MIRT621337	hsa-miR-196a-3p	HITS-CLIP	23824327
MIRT621336	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT621335	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT621334	hsa-miR-182-5p	HITS-CLIP	23824327
MIRT621333	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT491491	hsa-miR-1908-3p	PAR-CLIP	23592263
MIRT491490	hsa-miR-1199-3p	PAR-CLIP	23592263
MIRT491488	hsa-miR-6853-5p	PAR-CLIP	23592263
MIRT491489	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT491487	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT1351730	hsa-miR-124	CLIP-seq
MIRT1351731	hsa-miR-1276	CLIP-seq
MIRT1351732	hsa-miR-182	CLIP-seq
MIRT1351733	hsa-miR-1912	CLIP-seq
MIRT1351734	hsa-miR-2467-3p	CLIP-seq
MIRT1351735	hsa-miR-3123	CLIP-seq
MIRT1351736	hsa-miR-3657	CLIP-seq
MIRT1351737	hsa-miR-3689d	CLIP-seq
MIRT1351738	hsa-miR-3691-3p	CLIP-seq
MIRT1351739	hsa-miR-3714	CLIP-seq
MIRT1351740	hsa-miR-3910	CLIP-seq
MIRT1351741	hsa-miR-4252	CLIP-seq
MIRT1351742	hsa-miR-4258	CLIP-seq
MIRT1351743	hsa-miR-4283	CLIP-seq
MIRT1351744	hsa-miR-4311	CLIP-seq
MIRT1351745	hsa-miR-4449	CLIP-seq
MIRT1351746	hsa-miR-4669	CLIP-seq
MIRT1351747	hsa-miR-4695-5p	CLIP-seq
MIRT1351748	hsa-miR-4767	CLIP-seq
MIRT1351749	hsa-miR-4793-3p	CLIP-seq
MIRT1351750	hsa-miR-506	CLIP-seq
MIRT1351751	hsa-miR-508-5p	CLIP-seq
MIRT1351752	hsa-miR-583	CLIP-seq
MIRT1351753	hsa-miR-766	CLIP-seq
MIRT2104244	hsa-miR-1197	CLIP-seq
MIRT2104245	hsa-miR-1224-5p	CLIP-seq
MIRT2104246	hsa-miR-1245b-3p	CLIP-seq
MIRT2104247	hsa-miR-136	CLIP-seq
MIRT1351733	hsa-miR-1912	CLIP-seq
MIRT1351734	hsa-miR-2467-3p	CLIP-seq
MIRT2104248	hsa-miR-3169	CLIP-seq
MIRT1351737	hsa-miR-3689d	CLIP-seq
MIRT2104249	hsa-miR-4515	CLIP-seq
MIRT2104250	hsa-miR-4726-3p	CLIP-seq
MIRT2104251	hsa-miR-4751	CLIP-seq
MIRT1351732	hsa-miR-182	CLIP-seq
MIRT2328466	hsa-miR-1908	CLIP-seq
MIRT2328467	hsa-miR-338-3p	CLIP-seq
MIRT1351741	hsa-miR-4252	CLIP-seq
MIRT2328468	hsa-miR-4435	CLIP-seq
MIRT2328469	hsa-miR-4786-5p	CLIP-seq
MIRT1351749	hsa-miR-4793-3p	CLIP-seq
MIRT1351751	hsa-miR-508-5p	CLIP-seq
MIRT2328470	hsa-miR-663	CLIP-seq
MIRT1351753	hsa-miR-766	CLIP-seq
MIRT2394599	hsa-miR-764	CLIP-seq
MIRT1351736	hsa-miR-3657	CLIP-seq
MIRT1351738	hsa-miR-3691-3p	CLIP-seq
MIRT1351742	hsa-miR-4258	CLIP-seq
MIRT1351745	hsa-miR-4449	CLIP-seq
MIRT1351746	hsa-miR-4669	CLIP-seq
MIRT1351734	hsa-miR-2467-3p	CLIP-seq
MIRT2104248	hsa-miR-3169	CLIP-seq
MIRT2459452	hsa-miR-3647-3p	CLIP-seq
MIRT2104249	hsa-miR-4515	CLIP-seq
MIRT2459453	hsa-miR-4731-3p	CLIP-seq
MIRT2459454	hsa-miR-4801	CLIP-seq
MIRT2459455	hsa-miR-593	CLIP-seq
MIRT1351734	hsa-miR-2467-3p	CLIP-seq
MIRT2104248	hsa-miR-3169	CLIP-seq
MIRT2104249	hsa-miR-4515	CLIP-seq
MIRT1351732	hsa-miR-182	CLIP-seq
MIRT2623091	hsa-miR-3121-3p	CLIP-seq
MIRT2623092	hsa-miR-3122	CLIP-seq
MIRT2328467	hsa-miR-338-3p	CLIP-seq
MIRT2459452	hsa-miR-3647-3p	CLIP-seq
MIRT2623093	hsa-miR-3671	CLIP-seq
MIRT2623094	hsa-miR-3689a-3p	CLIP-seq
MIRT2623095	hsa-miR-3689c	CLIP-seq
MIRT2623096	hsa-miR-371-5p	CLIP-seq
MIRT2623097	hsa-miR-371b-5p	CLIP-seq
MIRT2623098	hsa-miR-3913-5p	CLIP-seq
MIRT1351741	hsa-miR-4252	CLIP-seq
MIRT2623099	hsa-miR-4421	CLIP-seq
MIRT2328468	hsa-miR-4435	CLIP-seq
MIRT2623100	hsa-miR-4470	CLIP-seq
MIRT2459453	hsa-miR-4731-3p	CLIP-seq
MIRT2328469	hsa-miR-4786-5p	CLIP-seq
MIRT1351749	hsa-miR-4793-3p	CLIP-seq
MIRT2459454	hsa-miR-4801	CLIP-seq
MIRT1351751	hsa-miR-508-5p	CLIP-seq
MIRT2459455	hsa-miR-593	CLIP-seq
MIRT2623101	hsa-miR-670	CLIP-seq
MIRT1351753	hsa-miR-766	CLIP-seq
MIRT2623092	hsa-miR-3122	CLIP-seq
MIRT2328467	hsa-miR-338-3p	CLIP-seq
MIRT2459452	hsa-miR-3647-3p	CLIP-seq
MIRT2623093	hsa-miR-3671	CLIP-seq
MIRT2623094	hsa-miR-3689a-3p	CLIP-seq
MIRT2623095	hsa-miR-3689c	CLIP-seq
MIRT2623096	hsa-miR-371-5p	CLIP-seq
MIRT2623097	hsa-miR-371b-5p	CLIP-seq
MIRT2623098	hsa-miR-3913-5p	CLIP-seq
MIRT2623099	hsa-miR-4421	CLIP-seq
MIRT2328468	hsa-miR-4435	CLIP-seq
MIRT2623100	hsa-miR-4470	CLIP-seq
MIRT2459453	hsa-miR-4731-3p	CLIP-seq
MIRT2328469	hsa-miR-4786-5p	CLIP-seq
MIRT2459454	hsa-miR-4801	CLIP-seq
MIRT2459455	hsa-miR-593	CLIP-seq
MIRT2623101	hsa-miR-670	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001818	Process	Negative regulation of cytokine production	IEA
GO:0001818	Process	Negative regulation of cytokine production	ISS
GO:0001819	Process	Positive regulation of cytokine production	IEA
GO:0001819	Process	Positive regulation of cytokine production	ISS
GO:0002309	Process	T cell proliferation involved in immune response	IEA
GO:0002309	Process	T cell proliferation involved in immune response	ISS
GO:0002606	Process	Positive regulation of dendritic cell antigen processing and presentation	IEA
GO:0002606	Process	Positive regulation of dendritic cell antigen processing and presentation	ISS
GO:0002827	Process	Positive regulation of T-helper 1 type immune response	IEA
GO:0002827	Process	Positive regulation of T-helper 1 type immune response	ISS
GO:0005381	Function	Iron ion transmembrane transporter activity	IBA
GO:0005381	Function	Iron ion transmembrane transporter activity	IDA	9730978
GO:0005381	Function	Iron ion transmembrane transporter activity	IEA
GO:0005384	Function	Manganese ion transmembrane transporter activity	IBA
GO:0005384	Function	Manganese ion transmembrane transporter activity	IDA	9730978
GO:0005384	Function	Manganese ion transmembrane transporter activity	IEA
GO:0005384	Function	Manganese ion transmembrane transporter activity	ISS
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	ISS
GO:0005765	Component	Lysosomal membrane	IBA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	ISS
GO:0005768	Component	Endosome	IEA
GO:0005770	Component	Late endosome	IEA
GO:0005770	Component	Late endosome	ISS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IMP	17932044
GO:0005886	Component	Plasma membrane	NAS	8537108
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006826	Process	Iron ion transport	IDA	9730978
GO:0006826	Process	Iron ion transport	IEA
GO:0006826	Process	Iron ion transport	IMP	16510578
GO:0006828	Process	Manganese ion transport	IBA
GO:0006828	Process	Manganese ion transport	IDA	9730978
GO:0006828	Process	Manganese ion transport	IEA
GO:0006828	Process	Manganese ion transport	ISS
GO:0006879	Process	Intracellular iron ion homeostasis	IBA
GO:0006879	Process	Intracellular iron ion homeostasis	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	IMP	16510578
GO:0006909	Process	Phagocytosis	IEA
GO:0006909	Process	Phagocytosis	ISS
GO:0006954	Process	Inflammatory response	IEA
GO:0006954	Process	Inflammatory response	ISS
GO:0007035	Process	Vacuolar acidification	IEA
GO:0007035	Process	Vacuolar acidification	ISS
GO:0009617	Process	Response to bacterium	IDA	7717395
GO:0009617	Process	Response to bacterium	IEA
GO:0010008	Component	Endosome membrane	IBA
GO:0010008	Component	Endosome membrane	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0015707	Process	Nitrite transport	IEA
GO:0015707	Process	Nitrite transport	ISS
GO:0016020	Component	Membrane	IEA
GO:0019730	Process	Antimicrobial humoral response	TAS
GO:0030001	Process	Metal ion transport	IEA
GO:0030001	Process	Metal ion transport	ISS	17932044
GO:0030026	Process	Intracellular manganese ion homeostasis	IBA
GO:0030670	Component	Phagocytic vesicle membrane	IBA
GO:0030670	Component	Phagocytic vesicle membrane	IDA	12070036
GO:0030670	Component	Phagocytic vesicle membrane	IEA
GO:0031902	Component	Late endosome membrane	IEA
GO:0031902	Component	Late endosome membrane	ISS
GO:0031902	Component	Late endosome membrane	TAS
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0032496	Process	Response to lipopolysaccharide	ISS
GO:0032729	Process	Positive regulation of type II interferon production	IEA
GO:0032729	Process	Positive regulation of type II interferon production	ISS
GO:0032729	Process	Positive regulation of type II interferon production	ISS
GO:0034341	Process	Response to type II interferon	IEA
GO:0034341	Process	Response to type II interferon	ISS
GO:0034755	Process	Iron ion transmembrane transport	IBA
GO:0042060	Process	Wound healing	IEA
GO:0042060	Process	Wound healing	ISS
GO:0042116	Process	Macrophage activation	IEA
GO:0042116	Process	Macrophage activation	ISS
GO:0042742	Process	Defense response to bacterium	IEA
GO:0042742	Process	Defense response to bacterium	ISS
GO:0042803	Function	Protein homodimerization activity	IDA	8537108
GO:0042832	Process	Defense response to protozoan	IEA
GO:0042832	Process	Defense response to protozoan	ISS
GO:0045342	Process	MHC class II biosynthetic process	IEA
GO:0045342	Process	MHC class II biosynthetic process	ISS
GO:0045454	Process	Cell redox homeostasis	TAS
GO:0045730	Process	Respiratory burst	IEA
GO:0045730	Process	Respiratory burst	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046873	Function	Metal ion transmembrane transporter activity	IEA
GO:0046915	Function	Transition metal ion transmembrane transporter activity	IGI	17932044
GO:0048002	Process	Antigen processing and presentation of peptide antigen	IEA
GO:0048002	Process	Antigen processing and presentation of peptide antigen	ISS
GO:0048255	Process	MRNA stabilization	IEA
GO:0048255	Process	MRNA stabilization	ISS
GO:0050766	Process	Positive regulation of phagocytosis	IEA
GO:0050766	Process	Positive regulation of phagocytosis	ISS
GO:0050829	Process	Defense response to Gram-negative bacterium	IEA
GO:0050829	Process	Defense response to Gram-negative bacterium	ISS
GO:0051139	Function	Metal cation:proton antiporter activity	IBA
GO:0051139	Function	Metal cation:proton antiporter activity	IDA	9730978
GO:0051139	Function	Metal cation:proton antiporter activity	IEA
GO:0051139	Function	Metal cation:proton antiporter activity	IGI	17932044
GO:0051139	Function	Metal cation:proton antiporter activity	TAS
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IEA
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	ISS
GO:0070574	Process	Cadmium ion transmembrane transport	IGI	17932044
GO:0070821	Component	Tertiary granule membrane	IDA	12070036
GO:0070821	Component	Tertiary granule membrane	TAS
GO:0071421	Process	Manganese ion transmembrane transport	IEA
GO:0098849	Process	Cellular detoxification of cadmium ion	IGI	17932044
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS
GO:1902600	Process	Proton transmembrane transport	IEA
GO:1903826	Process	L-arginine transmembrane transport	IEA

MIM	HGNC	e!Ensembl
600266	10907	ENSG00000018280

P49279

Protein name

Natural resistance-associated macrophage protein 1 (NRAMP 1) (Solute carrier family 11 member 1)

Protein function

Macrophage-specific antiporter that fluxes metal ions in either direction against a proton gradient. Localized to late endosomal lysosomal membranes, delivers bivalent cations from the cytosol into these acidic compartments where they may direct

PDB

9F6P , 9F6Q

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01566	Nramp	78 → 463	Natural resistance-associated macrophage protein	Family

Tissue specificity

TISSUE SPECIFICITY: Macrophages; peripheral blood leukocytes, lung, spleen and liver. {ECO:0000269|PubMed:7964458, ECO:0000269|PubMed:8537108}.

Sequence

MTGDKGPQRLSGSSYGSISSPTSPTSPGPQQAPPRETYLSEKIPIPDTKPGTFSLRKLWA
FTGPGFLMSIAFLDPGNIESDLQAGAVAGFKLLWVLLWATVLGLLCQRLAARLGVVTGKD
LGEVCHLYYPKVPRTVLWLTIELAIVGSDMQEVIGTAIAFNLLSAGRIPLWGGVLITIVD
TFFFLFLDNYGLRKLEAFFGLLITIMALTFGYEYVVARPEQGALLRGLFLPSCPGCGHPE
LLQAVGIVGAIIMPHNIYLHSALVKSREIDRARRADIREANMYFLIEATIALSVSFIINL
FVMAVFGQAFYQKTNQAAFNICANSSLHDYAKIFPMNNATVAVDIYQGGVILGCLFGPAA
LYIWAIGLLAAGQSSTMTGTYAGQFVMEGFLRLRWSRFARVLLTRSCAILPTVLVAVFRD
LRDLSGLNDLLNVLQSLLLPFAVLPILTFTSMPTLMQEFANGLLNKVVTSSIMVLVCAIN
LYFVVSYLPSLPHPAYFGLAALLAAAYLGLSTYLVWTCCLAHGATFLAHSSHHHFLYGLL
EEDQKGETSG

Sequence length

550

Interactions

View interactions

	KEGG		Reactome
	Lysosome		ROS and RNS production in phagocytes Metal ion SLC transporters Neutrophil degranulation Ion influx/efflux at host-pathogen interface

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (35)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ARTHRITIS, JUVENILE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BURULI ULCER	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Buruli ulcer, susceptibility to	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LEFT-SIDED ULCERATIVE COLITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLITIS, ULCERATIVE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN DISEASE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHNS DISEASE OF LARGE BOWEL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic fibrosis	Uncertain significance	ClinVar Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DERMATITIS, ATOPIC	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEISHMANIASIS, CUTANEOUS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEISHMANIASIS, VISCERAL	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEPROSY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOPROLIFERATIVE SYNDROME 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mycobacterium tuberculosis, susceptibility to	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mycobacterium tuberculosis, susceptibility to infection by	risk factor	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAUCIARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC11A1-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUBERCULOMA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (117)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Kidney Insufficiency	Acute Kidney Insufficiency	CTD_human_DG	20623750		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	26658322		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	10758409, 17466092		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Iron Deficiency	Iron deficiency anemia	Pubtator	37607533	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	36755239	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	28669029, 9058648		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	10857800, 15641099	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	10719815, 28239176, 31316048, 8863160	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	15988535		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	LHGDN	15988535		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	10227396, 10719815, 15641099, 16135804, 23492997	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	10719815, 10758409, 11358358, 12135431, 12527228, 15584484, 15702130, 15877293, 16516037, 16734634, 17378896, 18374540, 18454481, 21283567, 23492997, 29074164 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	LHGDN	15877293		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	17062442, 18998137		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet Syndrome	LHGDN	17062442		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	BEFREE	11010829, 16516037, 21163569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Injuries	Brain injuries	Pubtator	31273671	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21880597		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brittle diabetes	Brittle diabetes mellitus	CTD_human_DG	16597321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Buruli Ulcer	Buruli Ulcer	BEFREE	11469950, 16395392, 27097163		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Buruli Ulcer	Buruli Ulcer	LHGDN	16395392		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Buruli Ulcer	Buruli ulcer	Pubtator	27097163	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Buruli Ulcer	Buruli Ulcer	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma of bladder	Bladder carcinoma	BEFREE	11010829, 16516037, 21163569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	BEFREE	23897604		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	23897604		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholesterol gallstones	Cholesterol gallstones	BEFREE	20176950		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	18504650		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	LHGDN	18504650		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	Pubtator	27309481	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	14960532		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	10207725, 15584484, 15757519, 17131479, 17385031, 18340647, 18454481, 21128323, 27019053, 30543052, 9288120		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	CTD_human_DG	16059695		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	LHGDN	17131479, 18454481		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn disease	Pubtator	17131479, 21128323	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn`s disease of large bowel	Crohn`s Disease Of Large Bowel	CTD_human_DG	16059695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn`s disease of the ileum	Crohn`s Disease Of The Ileum	CTD_human_DG	16059695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	28756021, 29635781		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Dermatitis, Atopic	Dermatitis	CTD_human_DG	16597321		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	10065630, 11016460		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10065630, 11016460		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	19768110	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	37062790	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	12136340, 14989712, 15877293, 19768110, 21524304		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	16597321		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Ketosis-Prone	Diabetes Mellitus	CTD_human_DG	16597321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Sudden-Onset	Diabetes Mellitus	CTD_human_DG	16597321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	CTD_human_DG	16597321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic neuropathy	Pubtator	37033211	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema, Infantile	Eczema	CTD_human_DG	16597321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	15860357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	15860357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	LHGDN	15860357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36531992	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Granulomatous Disease Chronic	Granulomatous disease	Pubtator	14688376	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	21128323		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	14960532	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
IIeocolitis	Ileocolitis	CTD_human_DG	16059695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	23360117		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	10207725, 11929588, 15757519, 16059695, 21128323		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	LHGDN	16059695		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	CTD_human_DG	16597321		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Iron Overload	Iron Overload	BEFREE	28476637, 29679389		★★★★★ ★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	15757519		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	10065630, 10857800, 15641099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	CTD_human_DG	16597321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile psoriatic arthritis	Juvenile arthritis	CTD_human_DG	16597321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	CTD_human_DG	16597321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	BEFREE	17876529, 18998137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	CTD_human_DG	20623750		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leishmaniasis Cutaneous	Leishmaniasis	Pubtator	27830154	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	10065630, 10608779, 11010829, 11791966, 22170299, 26814595, 9419180, 9509263, 9719491		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leprosy	Leprosy	CTD_human_DG	16597321		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leprosy	Leprosy	Pubtator	21599885, 26814595	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leprosy Lepromatous	Leprosy	Pubtator	26515838	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	14960532		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	16002921, 9476846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	17459898	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	21233146, 29074164		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	16734634		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21880597		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	15860357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	15254976		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	11010829, 16516037, 21163569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17378896		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	12552460, 29214786		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	LHGDN	12552460		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	29214786	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	11358358, 15584484, 16865539, 20405176		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	CTD_human_DG	16597321		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	LHGDN	18973068		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	23492997	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis, Acute Fulminating	Multiple Sclerosis	CTD_human_DG	16597321		★★★★★ ★☆☆☆☆ Found in Text Mining only
MUTYH-Associate Polyposis	Polyposis	BEFREE	19768110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12509970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	29679389		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31253190		★★★★★ ★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	BEFREE	23538334		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paratuberculosis	Paratuberculosis	BEFREE	17131479, 19768110, 21128323, 23492997, 30543052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28476637		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	27309481	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Negative	Seronegative polyarthritis	CTD_human_DG	16597321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Positive	Polyarthritis, Rheumatoid Factor Positive	CTD_human_DG	16597321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37108754	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	BEFREE	23538334		★★★★★ ★☆☆☆☆ Found in Text Mining only
Regional enteritis	Crohn Disease	CTD_human_DG	16059695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10703607, 10719815, 12135431, 15082117, 15584484, 16125248, 19055603, 30345642, 31230160, 31316048, 8863160, 9002042, 9058648, 9719491		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	12135431, 15877293, 16125248		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	16597321		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	BEFREE	10837363, 15004750, 15702130, 22160516		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	LHGDN	15702130, 18496987		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	CTD_human_DG	16597321		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Carcinoma	Stomach Carcinoma	BEFREE	15254976		★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	17876529		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic Scleroderma	Scleroderma	LHGDN	17876529		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	BEFREE	10207725, 18340647, 21128323, 27019053		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	CTD_human_DG	16059695		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

SLC11A1 (solute carrier family 11 member 1)