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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	30061
Gene name Gene Name - the full gene name approved by the HGNC.	Solute carrier family 40 member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SLC40A1
Synonyms (NCBI Gene) Gene synonyms aliases	FPN, FPN1, HFE4, IREG1, MST079, MSTP079, MTP1, SLC11A3
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q32.2
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). [provided by RefSeq, Jul 2008]

Show/Hide all(20)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28939076	G>T	Pathogenic	Coding sequence variant, missense variant
rs104893662	T>A,C,G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs104893663	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs104893664	C>T	Pathogenic	Coding sequence variant, missense variant
rs104893670	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs104893671	C>A	Pathogenic	Coding sequence variant, missense variant
rs104893672	T>A	Pathogenic	Coding sequence variant, missense variant
rs104893673	C>A	Pathogenic	Coding sequence variant, missense variant
rs368420430	T>A,C,G	Pathogenic	Coding sequence variant, missense variant
rs387907377	C>T	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs878854984	CAA>-,CAACAA	Pathogenic, uncertain-significance	Coding sequence variant, inframe insertion, inframe deletion
rs1057521155	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1060501102	C>T	Pathogenic	Missense variant, coding sequence variant
rs1423207026	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1553492997	C>T	Pathogenic	Coding sequence variant, missense variant
rs1553493234	G>T	Pathogenic	Coding sequence variant, missense variant
rs1553493479	G>C	Pathogenic	Coding sequence variant, missense variant
rs1553493481	C>T	Pathogenic	Coding sequence variant, missense variant
rs1553494286	A>G	Pathogenic	Coding sequence variant, missense variant
rs1553495699	T>G	Pathogenic	5 prime UTR variant

Show/Hide all(242)

miRTarBase ID	miRNA	Experiments	Reference
MIRT054252	hsa-miR-485-3p	Luciferase reporter assay, QRTPCR, Western blot	23593016
MIRT1363975	hsa-miR-1283	CLIP-seq
MIRT1363976	hsa-miR-34c-3p	CLIP-seq
MIRT1363977	hsa-miR-4276	CLIP-seq
MIRT1363978	hsa-miR-4302	CLIP-seq
MIRT2331747	hsa-miR-103b	CLIP-seq
MIRT2331748	hsa-miR-106a	CLIP-seq
MIRT2331749	hsa-miR-106b	CLIP-seq
MIRT2331750	hsa-miR-1183	CLIP-seq
MIRT2331751	hsa-miR-1184	CLIP-seq
MIRT2331752	hsa-miR-1205	CLIP-seq
MIRT2331753	hsa-miR-124	CLIP-seq
MIRT2331754	hsa-miR-1263	CLIP-seq
MIRT2331755	hsa-miR-1272	CLIP-seq
MIRT1363975	hsa-miR-1283	CLIP-seq
MIRT2331756	hsa-miR-1301	CLIP-seq
MIRT2331757	hsa-miR-136	CLIP-seq
MIRT2331758	hsa-miR-147	CLIP-seq
MIRT2331759	hsa-miR-17	CLIP-seq
MIRT2331760	hsa-miR-186	CLIP-seq
MIRT2331761	hsa-miR-20a	CLIP-seq
MIRT2331762	hsa-miR-20b	CLIP-seq
MIRT2331763	hsa-miR-221	CLIP-seq
MIRT2331764	hsa-miR-222	CLIP-seq
MIRT2331765	hsa-miR-25	CLIP-seq
MIRT2331766	hsa-miR-302a	CLIP-seq
MIRT2331767	hsa-miR-302b	CLIP-seq
MIRT2331768	hsa-miR-302c	CLIP-seq
MIRT2331769	hsa-miR-302d	CLIP-seq
MIRT2331770	hsa-miR-302e	CLIP-seq
MIRT2331771	hsa-miR-3133	CLIP-seq
MIRT2331772	hsa-miR-3145-5p	CLIP-seq
MIRT2331773	hsa-miR-3158-5p	CLIP-seq
MIRT2331774	hsa-miR-3159	CLIP-seq
MIRT2331775	hsa-miR-3160-5p	CLIP-seq
MIRT2331776	hsa-miR-32	CLIP-seq
MIRT2331777	hsa-miR-3200-5p	CLIP-seq
MIRT2331778	hsa-miR-325	CLIP-seq
MIRT2331779	hsa-miR-338-5p	CLIP-seq
MIRT1363976	hsa-miR-34c-3p	CLIP-seq
MIRT2331780	hsa-miR-3611	CLIP-seq
MIRT2331781	hsa-miR-3616-5p	CLIP-seq
MIRT2331782	hsa-miR-363	CLIP-seq
MIRT2331783	hsa-miR-3647-5p	CLIP-seq
MIRT2331784	hsa-miR-367	CLIP-seq
MIRT2331785	hsa-miR-3673	CLIP-seq
MIRT2331786	hsa-miR-3682-3p	CLIP-seq
MIRT2331787	hsa-miR-3689a-5p	CLIP-seq
MIRT2331788	hsa-miR-3689b	CLIP-seq
MIRT2331789	hsa-miR-3689e	CLIP-seq
MIRT2331790	hsa-miR-3689f	CLIP-seq
MIRT2331791	hsa-miR-3714	CLIP-seq
MIRT2331792	hsa-miR-372	CLIP-seq
MIRT2331793	hsa-miR-373	CLIP-seq
MIRT2331794	hsa-miR-3910	CLIP-seq
MIRT2331795	hsa-miR-3973	CLIP-seq
MIRT2331796	hsa-miR-3977	CLIP-seq
MIRT2331797	hsa-miR-410	CLIP-seq
MIRT2331798	hsa-miR-4265	CLIP-seq
MIRT2331799	hsa-miR-4289	CLIP-seq
MIRT2331800	hsa-miR-4296	CLIP-seq
MIRT2331801	hsa-miR-4320	CLIP-seq
MIRT2331802	hsa-miR-4322	CLIP-seq
MIRT2331803	hsa-miR-4417	CLIP-seq
MIRT2331804	hsa-miR-4424	CLIP-seq
MIRT2331805	hsa-miR-4457	CLIP-seq
MIRT2331806	hsa-miR-448	CLIP-seq
MIRT2331807	hsa-miR-450b-3p	CLIP-seq
MIRT2331808	hsa-miR-4528	CLIP-seq
MIRT2331809	hsa-miR-4536	CLIP-seq
MIRT2331810	hsa-miR-4660	CLIP-seq
MIRT2331811	hsa-miR-4666-3p	CLIP-seq
MIRT2331812	hsa-miR-4666-5p	CLIP-seq
MIRT2331813	hsa-miR-4680-3p	CLIP-seq
MIRT2331814	hsa-miR-4684-3p	CLIP-seq
MIRT2331815	hsa-miR-4729	CLIP-seq
MIRT2331816	hsa-miR-4742-3p	CLIP-seq
MIRT2331817	hsa-miR-4795-5p	CLIP-seq
MIRT2331818	hsa-miR-5047	CLIP-seq
MIRT2331819	hsa-miR-506	CLIP-seq
MIRT2331820	hsa-miR-513b	CLIP-seq
MIRT2331821	hsa-miR-518a-5p	CLIP-seq
MIRT2331822	hsa-miR-519a	CLIP-seq
MIRT2331823	hsa-miR-519b-3p	CLIP-seq
MIRT2331824	hsa-miR-519c-3p	CLIP-seq
MIRT2331825	hsa-miR-519d	CLIP-seq
MIRT2331826	hsa-miR-520a-3p	CLIP-seq
MIRT2331827	hsa-miR-520b	CLIP-seq
MIRT2331828	hsa-miR-520c-3p	CLIP-seq
MIRT2331829	hsa-miR-520d-3p	CLIP-seq
MIRT2331830	hsa-miR-520e	CLIP-seq
MIRT2331831	hsa-miR-527	CLIP-seq
MIRT2331832	hsa-miR-544	CLIP-seq
MIRT2331833	hsa-miR-548ac	CLIP-seq
MIRT2331834	hsa-miR-548ae	CLIP-seq
MIRT2331835	hsa-miR-548aj	CLIP-seq
MIRT2331836	hsa-miR-548am	CLIP-seq
MIRT2331837	hsa-miR-548d-3p	CLIP-seq
MIRT2331838	hsa-miR-548k	CLIP-seq
MIRT2331839	hsa-miR-548p	CLIP-seq
MIRT2331840	hsa-miR-548v	CLIP-seq
MIRT2331841	hsa-miR-548x	CLIP-seq
MIRT2331842	hsa-miR-548z	CLIP-seq
MIRT2331843	hsa-miR-553	CLIP-seq
MIRT2331844	hsa-miR-573	CLIP-seq
MIRT2331845	hsa-miR-595	CLIP-seq
MIRT2331846	hsa-miR-616	CLIP-seq
MIRT2331847	hsa-miR-628-3p	CLIP-seq
MIRT2331848	hsa-miR-769-3p	CLIP-seq
MIRT2331849	hsa-miR-92a	CLIP-seq
MIRT2331850	hsa-miR-92b	CLIP-seq
MIRT2331851	hsa-miR-93	CLIP-seq
MIRT2626313	hsa-miR-105	CLIP-seq
MIRT2331751	hsa-miR-1184	CLIP-seq
MIRT2626314	hsa-miR-1237	CLIP-seq
MIRT2331755	hsa-miR-1272	CLIP-seq
MIRT1363975	hsa-miR-1283	CLIP-seq
MIRT2331756	hsa-miR-1301	CLIP-seq
MIRT2331758	hsa-miR-147	CLIP-seq
MIRT2331763	hsa-miR-221	CLIP-seq
MIRT2331764	hsa-miR-222	CLIP-seq
MIRT2331766	hsa-miR-302a	CLIP-seq
MIRT2331767	hsa-miR-302b	CLIP-seq
MIRT2331768	hsa-miR-302c	CLIP-seq
MIRT2331769	hsa-miR-302d	CLIP-seq
MIRT2331770	hsa-miR-302e	CLIP-seq
MIRT2626315	hsa-miR-3119	CLIP-seq
MIRT2626316	hsa-miR-3140-3p	CLIP-seq
MIRT2626317	hsa-miR-3157-3p	CLIP-seq
MIRT2626318	hsa-miR-3182	CLIP-seq
MIRT2331777	hsa-miR-3200-5p	CLIP-seq
MIRT2331778	hsa-miR-325	CLIP-seq
MIRT1363976	hsa-miR-34c-3p	CLIP-seq
MIRT2331780	hsa-miR-3611	CLIP-seq
MIRT2331781	hsa-miR-3616-5p	CLIP-seq
MIRT2331783	hsa-miR-3647-5p	CLIP-seq
MIRT2331786	hsa-miR-3682-3p	CLIP-seq
MIRT2331787	hsa-miR-3689a-5p	CLIP-seq
MIRT2331788	hsa-miR-3689b	CLIP-seq
MIRT2331789	hsa-miR-3689e	CLIP-seq
MIRT2331790	hsa-miR-3689f	CLIP-seq
MIRT2331792	hsa-miR-372	CLIP-seq
MIRT2331793	hsa-miR-373	CLIP-seq
MIRT2626319	hsa-miR-3911	CLIP-seq
MIRT2331796	hsa-miR-3977	CLIP-seq
MIRT2331799	hsa-miR-4289	CLIP-seq
MIRT2331801	hsa-miR-4320	CLIP-seq
MIRT2331804	hsa-miR-4424	CLIP-seq
MIRT2626320	hsa-miR-4427	CLIP-seq
MIRT2626321	hsa-miR-4452	CLIP-seq
MIRT2626322	hsa-miR-4474-3p	CLIP-seq
MIRT2331807	hsa-miR-450b-3p	CLIP-seq
MIRT2331810	hsa-miR-4660	CLIP-seq
MIRT2331811	hsa-miR-4666-3p	CLIP-seq
MIRT2331812	hsa-miR-4666-5p	CLIP-seq
MIRT2331813	hsa-miR-4680-3p	CLIP-seq
MIRT2331816	hsa-miR-4742-3p	CLIP-seq
MIRT2331817	hsa-miR-4795-5p	CLIP-seq
MIRT2626323	hsa-miR-489	CLIP-seq
MIRT2331818	hsa-miR-5047	CLIP-seq
MIRT2626324	hsa-miR-508-3p	CLIP-seq
MIRT2331826	hsa-miR-520a-3p	CLIP-seq
MIRT2331827	hsa-miR-520b	CLIP-seq
MIRT2331828	hsa-miR-520c-3p	CLIP-seq
MIRT2331829	hsa-miR-520d-3p	CLIP-seq
MIRT2331830	hsa-miR-520e	CLIP-seq
MIRT2331840	hsa-miR-548v	CLIP-seq
MIRT2331844	hsa-miR-573	CLIP-seq
MIRT2331846	hsa-miR-616	CLIP-seq
MIRT2331847	hsa-miR-628-3p	CLIP-seq
MIRT2626325	hsa-miR-644	CLIP-seq
MIRT2331848	hsa-miR-769-3p	CLIP-seq
MIRT2626326	hsa-miR-874	CLIP-seq
MIRT2626327	hsa-miR-938	CLIP-seq
MIRT2626313	hsa-miR-105	CLIP-seq
MIRT2331751	hsa-miR-1184	CLIP-seq
MIRT2626314	hsa-miR-1237	CLIP-seq
MIRT2331755	hsa-miR-1272	CLIP-seq
MIRT1363975	hsa-miR-1283	CLIP-seq
MIRT2331756	hsa-miR-1301	CLIP-seq
MIRT2331758	hsa-miR-147	CLIP-seq
MIRT2331763	hsa-miR-221	CLIP-seq
MIRT2331764	hsa-miR-222	CLIP-seq
MIRT2691226	hsa-miR-300	CLIP-seq
MIRT2331766	hsa-miR-302a	CLIP-seq
MIRT2331767	hsa-miR-302b	CLIP-seq
MIRT2331768	hsa-miR-302c	CLIP-seq
MIRT2331769	hsa-miR-302d	CLIP-seq
MIRT2331770	hsa-miR-302e	CLIP-seq
MIRT2626315	hsa-miR-3119	CLIP-seq
MIRT2626316	hsa-miR-3140-3p	CLIP-seq
MIRT2626317	hsa-miR-3157-3p	CLIP-seq
MIRT2626318	hsa-miR-3182	CLIP-seq
MIRT2331777	hsa-miR-3200-5p	CLIP-seq
MIRT2331778	hsa-miR-325	CLIP-seq
MIRT2331779	hsa-miR-338-5p	CLIP-seq
MIRT1363976	hsa-miR-34c-3p	CLIP-seq
MIRT2331780	hsa-miR-3611	CLIP-seq
MIRT2331781	hsa-miR-3616-5p	CLIP-seq
MIRT2331783	hsa-miR-3647-5p	CLIP-seq
MIRT2331786	hsa-miR-3682-3p	CLIP-seq
MIRT2331787	hsa-miR-3689a-5p	CLIP-seq
MIRT2331788	hsa-miR-3689b	CLIP-seq
MIRT2331789	hsa-miR-3689e	CLIP-seq
MIRT2331790	hsa-miR-3689f	CLIP-seq
MIRT2331792	hsa-miR-372	CLIP-seq
MIRT2331793	hsa-miR-373	CLIP-seq
MIRT2691227	hsa-miR-381	CLIP-seq
MIRT2626319	hsa-miR-3911	CLIP-seq
MIRT2331796	hsa-miR-3977	CLIP-seq
MIRT2331799	hsa-miR-4289	CLIP-seq
MIRT2331801	hsa-miR-4320	CLIP-seq
MIRT2691228	hsa-miR-4423-5p	CLIP-seq
MIRT2331804	hsa-miR-4424	CLIP-seq
MIRT2626320	hsa-miR-4427	CLIP-seq
MIRT2626321	hsa-miR-4452	CLIP-seq
MIRT2626322	hsa-miR-4474-3p	CLIP-seq
MIRT2331807	hsa-miR-450b-3p	CLIP-seq
MIRT2331810	hsa-miR-4660	CLIP-seq
MIRT2331811	hsa-miR-4666-3p	CLIP-seq
MIRT2331812	hsa-miR-4666-5p	CLIP-seq
MIRT2331813	hsa-miR-4680-3p	CLIP-seq
MIRT2331816	hsa-miR-4742-3p	CLIP-seq
MIRT2691229	hsa-miR-4781-3p	CLIP-seq
MIRT2331817	hsa-miR-4795-5p	CLIP-seq
MIRT2626323	hsa-miR-489	CLIP-seq
MIRT2331818	hsa-miR-5047	CLIP-seq
MIRT2626324	hsa-miR-508-3p	CLIP-seq
MIRT2331826	hsa-miR-520a-3p	CLIP-seq
MIRT2331827	hsa-miR-520b	CLIP-seq
MIRT2331828	hsa-miR-520c-3p	CLIP-seq
MIRT2331829	hsa-miR-520d-3p	CLIP-seq
MIRT2331830	hsa-miR-520e	CLIP-seq
MIRT2691230	hsa-miR-539	CLIP-seq
MIRT2331840	hsa-miR-548v	CLIP-seq
MIRT2331844	hsa-miR-573	CLIP-seq
MIRT2331846	hsa-miR-616	CLIP-seq
MIRT2331847	hsa-miR-628-3p	CLIP-seq
MIRT2626325	hsa-miR-644	CLIP-seq
MIRT2331848	hsa-miR-769-3p	CLIP-seq
MIRT2626326	hsa-miR-874	CLIP-seq
MIRT2626327	hsa-miR-938	CLIP-seq

Show/Hide all(51)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002260	Process	Lymphocyte homeostasis	IEA
GO:0003158	Process	Endothelium development	IEA
GO:0005381	Function	Iron ion transmembrane transporter activity	IBA
GO:0005381	Function	Iron ion transmembrane transporter activity	IEA
GO:0005381	Function	Iron ion transmembrane transporter activity	IMP	12091367
GO:0005381	Function	Iron ion transmembrane transporter activity	ISS
GO:0005515	Function	Protein binding	IPI	20817278, 24867889, 37277838
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	TAS	10747949
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IC	12091367
GO:0005886	Component	Plasma membrane	IDA	20019163, 30247984
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006826	Process	Iron ion transport	IEA
GO:0006826	Process	Iron ion transport	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	IMP	12091367
GO:0006915	Process	Apoptotic process	IEA
GO:0008021	Component	Synaptic vesicle	IEA
GO:0015093	Function	Ferrous iron transmembrane transporter activity	IDA	15692071
GO:0015093	Function	Ferrous iron transmembrane transporter activity	IEA
GO:0015093	Function	Ferrous iron transmembrane transporter activity	ISS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	10747949
GO:0016323	Component	Basolateral plasma membrane	IBA
GO:0016323	Component	Basolateral plasma membrane	IDA	10882071
GO:0016323	Component	Basolateral plasma membrane	IDA	20019163, 29792530
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	ISS
GO:0017046	Function	Peptide hormone binding	IBA
GO:0017046	Function	Peptide hormone binding	IDA	29237594
GO:0017046	Function	Peptide hormone binding	IEA
GO:0017046	Function	Peptide hormone binding	IPI	22682227
GO:0034755	Process	Iron ion transmembrane transport	IBA
GO:0034755	Process	Iron ion transmembrane transport	IEA
GO:0034755	Process	Iron ion transmembrane transport	IEA
GO:0034755	Process	Iron ion transmembrane transport	IMP	12091367
GO:0042802	Function	Identical protein binding	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048536	Process	Spleen development	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0060345	Process	Spleen trabecula formation	IEA
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IEA
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	ISS
GO:1903988	Process	Iron ion export across plasma membrane	IEA
GO:1903988	Process	Iron ion export across plasma membrane	ISS

MIM	HGNC	e!Ensembl
604653	10909	ENSG00000138449

Protein

UniProt ID

Q9NP59

Protein name

Ferroportin (Ferroportin-1) (Iron-regulated transporter 1) (Solute carrier family 40 member 1)

Protein function

Transports Fe(2+) from the inside of a cell to the outside of the cell, playing a key role for maintaining systemic iron homeostasis (PubMed:15692071, PubMed:22178646, PubMed:22682227, PubMed:24304836, PubMed:29237594, PubMed:29599243, PubMed:30

PDB

6W4S , 6WBV , 8BZY , 8C02 , 8C03 , 8DL6 , 8DL7 , 8DL8

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06963	FPN1	22 → 531	Ferroportin1 (FPN1)	Family

Tissue specificity

TISSUE SPECIFICITY: Detected in erythrocytes (at protein level) (PubMed:23219802). Expressed in placenta, intestine, muscle and spleen (PubMed:10747949). Highly expressed in mature red blood (PubMed:29599243). {ECO:0000269|PubMed:10747949, ECO:0000269|Pub

Sequence

MTRAGDHNRQRGCCGSLADYLTSAKFLLYLGHSLSTWGDRMWHFAVSVFLVELYGNSLLL
TAVYGLVVAGSVLVLGAIIGDWVDKNARLKVAQTSLVVQNVSVILCGIILMMVFLHKHEL
LTMYHGWVLTSCYILIITIANIANLASTATAITIQRDWIVVVAGEDRSKLANMNATIRRI
DQLTNILAPMAVGQIMTFGSPVIGCGFISGWNLVSMCVEYVLLWKVYQKTPALAVKAGLK
EEETELKQLNLHKDTEPKPLEGTHLMGVKDSNIHELEHEQEPTCASQMAEPFRTFRDGWV
SYYNQPVFLAGMGLAFLYMTVLGFDCITTGYAYTQGLSGSILSILMGASAITGIMGTVAF
TWLRRKCGLVRTGLISGLAQLSCLILCVISVFMPGSPLDLSVSPFEDIRSRFIQGESITP
TKIPEITTEIYMSNGSNSANIVPETSPESVPIISVSLLFAGVIAARIGLWSFDLTVTQLL
QENVIESERGIINGVQNSMNYLLDLLHFIMVILAPNPEAFGLLVLISVSFVAMGHIMYFR
FAQNTLGNKLFACGPDAKEVRKENQANTSVV

Sequence length

571

Interactions

View interactions

	KEGG		Reactome
	Hormone signaling Ferroptosis Mineral absorption		Metal ion SLC transporters Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages) Defective CP causes aceruloplasminemia (ACERULOP) Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum) Iron uptake and transport

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Hemochromatosis	hemochromatosis type 4	rs28939076, rs1060501101, rs104893663, rs1060501102, rs104893670, rs1553492997, rs878854984, rs1553493234, rs104893671, rs1553493479, rs104893672, rs1553493481, rs104893673, rs1553494286, rs104893664 View all (7 more)	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Hereditary Hemochromatosis	hereditary hemochromatosis	N/A	N/A	ClinVar
Restless Legs Syndrome	Restless legs syndrome	N/A	N/A	GWAS

Show/Hide Text Mining Associations (49)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency	Associate	38098073
Anemia	Associate	20460119
Arthritis Rheumatoid	Inhibit	29096690
Breast Neoplasms	Associate	21875943, 37728703
Carcinoma	Associate	34001107
Carcinoma Hepatocellular	Associate	34001107
Carcinoma Renal Cell	Associate	35646516
Cataract	Associate	27629970
Chemical and Drug Induced Liver Injury	Associate	33673803
Chronic Disease	Associate	19958990
Cystic Fibrosis	Associate	23176785
Diabetes Mellitus	Associate	33787609
Diabetic Foot	Associate	39702546
Ehlers Danlos syndrome type 1	Associate	20648054
Fever	Associate	27629970
Genetic Diseases Inborn	Associate	15566364, 16351644, 20648054
Glioblastoma	Associate	35942174
Hearing Loss Sensorineural	Associate	25789325, 38098073
Hearing Loss Sudden	Associate	25789325
Hemochromatosis	Associate	12091367, 12801950, 12865285, 15566364, 15692071, 15897636, 16351644, 16838333, 17847004, 19342478, 19759876, 19892936, 25152992, 26633544, 27629970 View all (6 more)
Hemochromatosis type 4	Associate	12091366, 12730114, 15566364, 16258219, 16351644, 20648054, 24644245, 26633544, 32450003, 33673803, 38296485
Hepatitis C Chronic	Associate	25330009, 30186818
Hyperferritinemia	Associate	12730114, 16258219, 30002125, 34828384
Hyperferritinemia hereditary with congenital cataracts	Associate	12730114
Hyperpigmentation	Associate	33787609
Idiopathic Noncirrhotic Portal Hypertension	Associate	19307463
Inflammation	Associate	20460119, 31675496
Intervertebral Disc Degeneration	Associate	39528158
Iron Deficiencies	Associate	12091366, 12801950, 18469261, 20460119, 33673803
Iron Overload	Associate	12091366, 12091367, 12406098, 12865285, 15566364, 16351644, 17490902, 24644245, 32450003, 34583728, 35644542
Liver Cirrhosis	Associate	33787609
Liver Diseases Alcoholic	Stimulate	24894955
Lung Neoplasms	Inhibit	33714956
Mental Disorders	Associate	33787609
Mesothelioma Malignant	Associate	31442913
Multiple Myeloma	Associate	31423010
Multiple Sclerosis	Associate	22883388
Myostatin related muscle hypertrophy	Associate	20648054
Neoplasms	Associate	19307463
Neoplasms	Stimulate	26944411
Neoplastic Syndromes Hereditary	Associate	12406098, 15247188
Non alcoholic Fatty Liver Disease	Inhibit	18469261
Non alcoholic Fatty Liver Disease	Stimulate	29065180
Osteogenesis Imperfecta Type IV	Associate	15692071
Parkinson Disease	Inhibit	23303856
Prostatic Neoplasms	Associate	37929350
Respiratory Sounds	Associate	37353771
Ulcer	Associate	39702546
Varicose Ulcer	Associate	19958990

SLC40A1 (solute carrier family 40 member 1)