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	30061
Gene name	Solute carrier family 40 member 1
Gene symbol	SLC40A1
Synonyms (NCBI Gene)	FPNFPN1HFE4IREG1MST079MSTP079MTP1SLC11A3
Chromosome	2
Chromosome location	2q32.2
Summary	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

242

Show/Hide all (242)

miRTarBase ID	miRNA	Experiments	Reference
MIRT054252	hsa-miR-485-3p	Luciferase reporter assayQRTPCRWestern 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

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

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 Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hemochromatosis type 4	Likely pathogenic; Pathogenic	rs2105620090, rs2105620059, rs1227198230, rs104893662, rs28939076, rs104893663, rs104893670, rs878854984, rs104893671, rs104893672, rs104893673, rs104893664, rs1057521155, rs1060501101, rs1060501102 View all (23 more)	RCV001579307 RCV001579308 RCV002664278 RCV000005743 RCV000005744 View all (37 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SLC40A1-related disorder	Likely pathogenic; Pathogenic	rs878854984, rs1060501102	RCV003407282 RCV003983078	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (19)

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.
ANEMIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRACTURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEFICIENCY OF FERROXIDASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL APOCERULOPLASMIN DEFICIENCY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemochromatosis type 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 4	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOLYSIS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary hemochromatosis	Uncertain significance; Likely benign; Benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
IRON OVERLOAD	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (104)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	24894955		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	31442954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	25175826		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	14636642, 15902304		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	LHGDN	14636642, 18586377		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	CTD_human_DG	16434484		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	Pubtator	20460119	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	31442954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	29879439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	29490980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	29096690	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asbestosis	Asbestosis	BEFREE	26756421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	29879439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CTD_human_DG	15446388		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	15894659, 20392994, 26944411, 31593922		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21875943, 37728703	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	34001107	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34001107	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35646516	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	27629970	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29757912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ceruloplasmin deficiency	Ceruloplasmin deficiency	CTD_human_DG	20655381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	19958990	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	14768003		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	23176785	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	27770063		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	33787609	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29082606		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	39702546	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	20864642		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	20864642		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erectile dysfunction	Erectile Dysfunction	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial apoceruloplasmin deficiency	Apoceruloplasmin deficiency	CTD_human_DG	20655381		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver	Fatty Liver	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35942174	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gout	Gout	BEFREE	29069047		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	25789325, 38098073	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	LHGDN	11774199, 11783942, 12091367, 15692071, 15727899, 15897636, 15942076		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemochromatosis	Hemochromatosis	Pubtator	12091367, 12801950, 12865285, 15566364, 15692071, 15897636, 16351644, 16838333, 17847004, 19342478, 19759876, 19892936, 25152992, 26633544, 27629970 View all (6 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemochromatosis	Hemochromatosis	BEFREE	12547233, 12606179, 12801950, 15692071, 15935710, 15956209, 15986403, 17951290, 17997113, 18160816, 18820912, 19907151, 22890139, 24714983, 27445333, 29620054, 30500107, 31690120 View all (3 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemochromatosis	Hemochromatosis	CTD_human_DG	16457665, 21411349		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemochromatosis type 4	Hemochromatosis	Pubtator	12091366, 12730114, 15566364, 16258219, 16351644, 20648054, 24644245, 26633544, 32450003, 33673803, 38296485	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hemochromatosis type 4	Hemochromatosis	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	BEFREE	12547233, 15692071, 15935710, 15956209, 17951290, 17997113, 18160816, 19907151, 22890139, 24714983, 27445333, 27896572, 31690120		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 4	Hemochromatosis	GENOMICS_ENGLAND_DG	10471458, 11431687		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 4	Hemochromatosis	UNIPROT_DG	10747949, 11431687, 11518736, 12091366, 12091367, 12123233, 12406098, 12730114, 12857562, 12865285, 15338274, 15466004, 16351644		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 4	Hemochromatosis	BEFREE	11431687, 11518736, 15737888, 15902304, 15935710, 16111902, 16257244, 16351644, 17997113, 18160816, 18337195, 19937651, 23784628, 24644245, 26059880 View all (4 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 4	Hemochromatosis	CLINVAR_DG	21199650, 21396368, 21411349, 22584997, 23943237		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 4	Hemochromatosis	ORPHANET_DG	24714983		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 4	Hemochromatosis	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	25330009, 30186818	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	12542741, 12801950, 14618243, 15247188, 17847004, 17997113, 19342478, 19759876, 19892936, 21411349, 22408404, 25976471, 26059880, 26799139, 27896572, 28335084, 29134618, 29154924 View all (3 more)		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hereditary hemochromatosis	Hereditary Hemochromatosis	CTD_human_DG	16457665, 21411349		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hodgkin Disease	Hodgkin Disease	BEFREE	15168383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	15168383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperferritinemia	Hyperferritinemia	Pubtator	12730114, 16258219, 30002125, 34828384	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperferritinemia hereditary with congenital cataracts	Hyperferritinemia	Pubtator	12730114	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	29763925		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	39528158	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intravascular hemolysis	Intravascular Hemolysis	CTD_human_DG	25247420		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intravascular hemolysis	Intravascular Hemolysis	BEFREE	28219768		★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron Metabolism Disorders	Iron Metabolism Disorders	BEFREE	24644245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	11313311, 12091367, 12406098, 12547233, 12606179, 12873829, 14618243, 14636642, 14636643, 15075083, 15338274, 15737887, 16351644, 16440176, 16493621 View all (17 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Iron Overload	Iron overload	Pubtator	12091366, 12091367, 12406098, 12865285, 15566364, 16351644, 17490902, 24644245, 32450003, 34583728, 35644542	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Iron Overload	Iron Overload	CTD_human_DG	17052926		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Iron Overload	Iron Overload	LHGDN	17383046		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Iron Overload, Autosomal Dominant	Iron Overload	BEFREE	12873829, 16257244, 23943237, 29154924		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	30852438		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	14768003		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	33787609	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases Alcoholic	Liver disease	Pubtator	24894955	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	CTD_human_DG	21785164		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	33714956	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15894659, 20392994, 26944411, 31593922		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	21785164		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	31442913	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	28987816		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	25855377, 31423010		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	31423010	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	22883388		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	22883388	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20392994, 26944411, 30076742, 31675496		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28367114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	28008752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	18469261		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta Type IV	Osteogenesis imperfecta	Pubtator	15692071	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	19913091, 28987816, 29897813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	23303856	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Porphyria Cutanea Tarda	Porphyria Cutanea Tarda	BEFREE	29774528		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37929350	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	30186818		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	29490980, 30764871		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	27635596		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	BEFREE	30137540		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thalassemia Intermedia	Thalassemia	BEFREE	15075083		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	31721611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitamin A Deficiency	Vitamin A Deficiency	BEFREE	22528770		★★★★★ ★☆☆☆☆ Found in Text Mining only

SLC40A1 (solute carrier family 40 member 1)