TFR2 (transferrin receptor 2)

Gene

• Entrez ID: 7036
• Gene name: Transferrin receptor 2
• Gene symbol: TFR2
• Synonyms (NCBI Gene): HFE3, TFRC2
• Disease Acronyms (UniProt): HFE3
• Chromosome: 7
• Chromosome location: 7q22.1
• Summary: This gene encodes a single-pass type II membrane protein, which is a member of the transferrin receptor-like family. This protein mediates cellular uptake of transferrin-bound iron, and may be involved in iron metabolism, hepatocyte function and erythrocy

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs41295912	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs41303495	G>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs41303501	C>T	Benign, likely-benign, risk-factor	Missense variant, coding sequence variant
rs80338876	C>T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs80338877	->G	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs80338878	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs80338879	A>T	Pathogenic	Missense variant, initiator codon variant, coding sequence variant
rs80338880	G>C	Pathogenic	Coding sequence variant, stop gained
rs80338881	G>A	Pathogenic	Coding sequence variant, stop gained
rs80338882	G>A	Pathogenic	Coding sequence variant, stop gained
rs80338883	TTG>-	Pathogenic	Inframe deletion, coding sequence variant
rs80338884	C>T	Pathogenic	Missense variant, coding sequence variant
rs80338885	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs80338886	A>C	Pathogenic	Missense variant, coding sequence variant
rs80338887	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs80338888	CTGGGCCACGGC>-,CTGGGCCACGGCCTGGGCCACGGC	Pathogenic	Inframe deletion, coding sequence variant, inframe insertion
rs80338889	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs80338890	C>T	Pathogenic	Splice acceptor variant
rs80338891	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs139178017	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs148902192	A>T	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs184812195	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs750609759	T>C	Likely-pathogenic	Splice acceptor variant
rs772104483	C>A	Pathogenic	Coding sequence variant, missense variant
rs773050231	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs786204108	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs946552921	G>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs1051249273	G>A,T	Uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant
rs1220336558	G>A	Pathogenic	Coding sequence variant, stop gained
rs1388444100	->CT	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1426704853	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1562838535	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1584460907	C>G	Likely-pathogenic	Splice donor variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004998	Function	Transferrin receptor activity	IDA	18353247
GO:0004998	Function	Transferrin receptor activity	NAS	10409623
GO:0005515	Function	Protein binding	IPI	18353247, 22728873, 25635054, 29388418, 32296183
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IGI	18353247
GO:0005887	Component	Integral component of plasma membrane	NAS	10409623
GO:0006826	Process	Iron ion transport	NAS	10409623
GO:0006879	Process	Cellular iron ion homeostasis	TAS	15319276
GO:0006898	Process	Receptor-mediated endocytosis	IGI	18353247
GO:0006953	Process	Acute-phase response	IEA
GO:0009897	Component	External side of plasma membrane	IBA	21873635
GO:0009897	Component	External side of plasma membrane	IGI	18353247
GO:0010039	Process	Response to iron ion	IMP	21173098
GO:0031410	Component	Cytoplasmic vesicle	IDA	12704209
GO:0033572	Process	Transferrin transport	IGI	18353247
GO:0033572	Process	Transferrin transport	TAS
GO:0039706	Function	Co-receptor binding	IPI	22728873
GO:0045807	Process	Positive regulation of endocytosis	IGI	18353247
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	25635054
GO:0055072	Process	Iron ion homeostasis	IC	18353247
GO:0055072	Process	Iron ion homeostasis	IMP	21173098
GO:0071281	Process	Cellular response to iron ion	IGI	18353247
GO:0090277	Process	Positive regulation of peptide hormone secretion	IMP	21173098
GO:0140298	Process	Endocytic iron import into cell	IBA	21873635
GO:0140298	Process	Endocytic iron import into cell	IGI	18353247
GO:1903319	Process	Positive regulation of protein maturation	IGI	18353247
GO:1990712	Component	HFE-transferrin receptor complex	IDA	12704209, 22728873

Other IDs

• MIM: 604720
• HGNC: 11762
• e!Ensembl: ENSG00000106327

Protein

• UniProt ID: Q9UP52
• Protein name: Transferrin receptor protein 2 (TfR2)
• Protein function: Mediates cellular uptake of transferrin-bound iron in a non-iron dependent manner. May be involved in iron metabolism, hepatocyte function and erythrocyte differentiation.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02225	PA	241 → 329	PA domain	Family
  PF04389	Peptidase_M28	412 → 624	Peptidase family M28	Family

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in liver. While the alpha form is also expressed in spleen, lung, muscle, prostate and peripheral blood mononuclear cells, the beta form is expressed in all tissues tested, albeit weakly.
• Sequence:

  MERLWGLFQRAQQLSPRSSQTVYQRVEGPRKGHLEEEEEDGEEGAETLAHFCPMELRGPE
  PLGSRPRQPNLIPWAAAGRRAAPYLVLTALLIFTGAFLLGYVAFRGSCQACGDSVLVVSE
  DVNYEPDLDFHQGRLYWSDLQAMFLQFLGEGRLEDTIRQTSLRERVAGSAGMAALTQDIR
  AALSRQKLDHVWTDTHYVGLQFPDPAHPNTLHWVDEAGKVGEQLPLEDPDVYCPYSAIGN
  VTGELVYAHYGRPEDLQDLRARGVDPVGRLLLVRVGVISFAQKVTNAQDFGAQGVLIYPE
  PADFSQDPPKPSLSSQQAVYGHVHLGTGDPYTPGFPSFNQTQFPPVASSGLPSIPAQPIS
  ADIASRLLRKLKGPVAPQEWQGSLLGSPYHLGPGPRLRLVVNNHRTSTPINNIFGCIEGR
  SEPDHYVVIGAQRDAWGPGAAKSAVGTAILLELVRTFSSMVSNGFRPRRSLLFISWDGGD
  FGSVGSTEWLEGYLSVLHLKAVVYVSLDNAVLGDDKFHAKTSPLLTSLIESVLKQVDSPN
  HSGQTLYEQVVFTNPSWDAEVIRPLPMDSSAYSFTAFVGVPAVEFSFMEDDQAYPFLHTK
  EDTYENLHKVLQGRLPAVAQAVAQLAGQLLIRLSHDRLLPLDFGRYGDVVLRHIGNLNEF
  SGDLKARGLTLQWVYSARGDYIRAAEKLRQEIYSSEERDERLTRMYNVRIMRVEFYFLSQ
  YVSPADSPFRHIFMGRGDHTLGALLDHLRLLRSNSSGTPGATSSTGFQESRFRRQLALLT
  WTLQGAANALSGDVWNIDNNF

• Sequence length: 801

Pathways

KEGG:

TGF-beta signaling pathway

Reactome:

Transferrin endocytosis and recycling

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Arthritis	Arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Beta thalassemia	beta Thalassemia	rs33930165, rs33946267, rs33950507, rs34378160, rs33960103, rs35424040, rs33933298, rs33972047, rs334, rs33969677, rs33940204, rs35256489, rs33986703, rs11549407, rs63750783, rs33974936, rs33922842, rs33995148, rs33982568, rs34502690, rs35497102, rs35662066, rs80356820, rs80356821, rs63749819, rs33969853, rs281864901, rs34889882, rs34856846, rs267607297, rs41443947, rs35383398, rs63750099, rs34533941, rs36107977, rs63750532, rs35532010, rs1554917888, rs33941849, rs33971440, rs33945777, rs1554918032, rs193922563, rs63751076, rs33943001, rs33915217, rs35724775, rs33913413, rs35004220, rs34690599, rs34451549, rs33951465, rs33944208, rs63751208, rs34883338, rs33941377, rs33994806, rs33981098, rs33980857, rs34598529, rs33931746, rs33985472, rs63750954, rs33925391, rs35894115, rs63751128, rs33913712, rs35949130, rs63750475, rs33952266, rs36015961, rs34999973, rs34750035, rs33930702, rs35699671, rs267607291, rs63751218, rs63750513, rs35477349, rs33978907, rs41464951, rs63750067, rs33914668, rs34305195, rs193922552, rs193922553, rs34282684, rs193922555, rs35699606, rs34937014, rs35328027, rs35703285, rs33956879, rs34527846, rs34716011, rs63749960, rs63750128, rs1847516043, rs63751269, rs34809925, rs34135787, rs34704828, rs35225141, rs63750283, rs35619054, rs34563000, rs33991059, rs1554917561, rs34218908, rs1554918165, rs1554917947, rs35456885, rs35684407, rs1564875707, rs1564875331, rs1564874901, rs63750205, rs281865475, rs35395625, rs1564874813, rs63750223, rs281864518, rs35755331, rs281864532, rs1847518799, rs34171453, rs1847520793, rs281864497, rs1847523960, rs33953406, rs281864531, rs33910209, rs34363638, rs281864544, rs281864528, rs63751306, rs281864527, rs33930977, rs63750556, rs1847551520, rs1847552816, rs34466953, rs1847553344, rs34477959, rs1847553498, rs1847553585, rs1847553982, rs34831847, rs1847554171, rs35371965, rs1847555115, rs63750504, rs281864906, rs281864520, rs1847557333, rs1847557422, rs1847557540, rs34165323, rs1847558511, rs267607293, rs33969400, rs1847559573, rs1847560327, rs1847560717, rs35171933, rs34960334, rs35165357, rs1847561467, rs1847561978, rs1847562189, rs1847562491, rs1847563072, rs35133315, rs1554917970, rs33979901, rs36029927, rs63749957, rs1847565768, rs35857380, rs63749977, rs1135071, rs1847579861, rs267607295, rs35619688, rs281864899, rs1847582194, rs281864898, rs1847582308, rs33959855, rs1847584946, rs1847585652, rs1847585864, rs1847585812, rs1554918214, rs1847586938, rs1847587051, rs34548294, rs1847587286, rs1847587350, rs1847587392, rs1847587799, rs1847587930, rs34948328, rs281864519, rs1847588699, rs1847588915, rs1847589398, rs63750400, rs281864525, rs1847591425, rs1847592245, rs1847592435, rs63750692, rs1847534434, rs1847537515, rs35099082, rs63750774, rs1847554565, rs35348864	16755567
Cardiomyopathy	Cardiomyopathies	rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377, rs2856655, rs587776700, rs387906397, rs137854607, rs28935197, rs199473684, rs121964858, rs74315379, rs74315380, rs104894724, rs104894727, rs104894728, rs104894729, rs104894730, rs121917760, rs267607125, rs104894503, rs267607155, rs267607156, rs121918597, rs121918600, rs28933979, rs121918070, rs76992529, rs111033559, rs111033560, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs3218714, rs121913637, rs121913638, rs121913641, rs121913642, rs121913651, rs267606911, rs267606908, rs730880850, rs61046466, rs57520892, rs28933091, rs28933092, rs28933093, rs121913008, rs121913003, rs121912996, rs121912997, rs193922680, rs387906875, rs199474703, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922683, rs193922668, rs386134243, rs267607578, rs36211723, rs193922390, rs193922672, rs193922697, rs387907267, rs45546039, rs387907218, rs397515870, rs397515893, rs397515894, rs397515903, rs397515905, rs375882485, rs397515907, rs397515912, rs397515916, rs397515925, rs397515926, rs397515934, rs397515937, rs397515943, rs397515944, rs397515947, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515973, rs397515974, rs397515977, rs376395543, rs397515979, rs397515982, rs397515990, rs397515991, rs397515992, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs373746463, rs397516019, rs397516023, rs397516029, rs397516031, rs397516037, rs397516040, rs397516042, rs397516044, rs397516049, rs397516057, rs397516059, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs397516082, rs397516083, rs397516088, rs397516089, rs397516103, rs397516123, rs397516127, rs371898076, rs397516132, rs397516142, rs3218716, rs397516154, rs397516161, rs397516165, rs397516170, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516248, rs397516252, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516269, rs397516347, rs397516349, rs397516352, rs397516353, rs397516355, rs397516356, rs397516357, rs397516364, rs397516370, rs397516371, rs397516373, rs397516386, rs397516406, rs397516454, rs397516456, rs397516461, rs397516463, rs397516464, rs45525839, rs397516471, rs45578238, rs111377893, rs397516607, rs62636495, rs397516784, rs397516881, rs397516913, rs397516915, rs397516927, rs397516940, rs397516943, rs397516945, rs397516955, rs397516956, rs397516973, rs397516986, rs397516989, rs372827156, rs397516992, rs397516993, rs397516994, rs397516997, rs397517003, rs397517008, rs397517010, rs397517012, rs397517021, rs397517065, rs397517547, rs397517576, rs397517580, rs397517584, rs397517586, rs397517587, rs397517589, rs397517601, rs397517620, rs397517624, rs397517626, rs397517628, rs72646831, rs397517633, rs397517643, rs72646846, rs397517664, rs397517679, rs397517689, rs397517695, rs397517696, rs397517698, rs397517721, rs397517735, rs397517741, rs397517749, rs397517750, rs397517758, rs397517776, rs397517787, rs397517830, rs397517887, rs397517888, rs397517889, rs58013325, rs397517895, rs56984562, rs267607646, rs58917027, rs267607594, rs397517904, rs61195471, rs60682848, rs267607573, rs397517908, rs58978449, rs397517909, rs267607593, rs397517911, rs56816490, rs397517915, rs267607554, rs397514742, rs886041395, rs397515482, rs267607490, rs58999456, rs267607555, rs61672878, rs267607618, rs267607577, rs57730570, rs267607582, rs267607581, rs61444459, rs59270054, rs61661343, rs267607570, rs59026483, rs267607571, rs59332535, rs199473161, rs398123262, rs869320740, rs606231324, rs587782927, rs201754030, rs58389804, rs587782958, rs587782961, rs587782962, rs587782986, rs138049878, rs376897125, rs368765949, rs111569862, rs727504247, rs727503537, rs727504535, rs727504550, rs727504679, rs727503546, rs730880365, rs727504646, rs727505014, rs727505288, rs727503557, rs727503559, rs730880343, rs727503615, rs727504825, rs727503565, rs727504655, rs727505352, rs727504466, rs727504531, rs727503567, rs371678190, rs727503586, rs727505319, rs727503547, rs727505076, rs727505224, rs727503552, rs727504856, rs727504782, rs727504660, rs557312035, rs727505284, rs727504851, rs727504589, rs727504499, rs727504843, rs727504452, rs727503697, rs150974575, rs727504498, rs727503598, rs727503602, rs727503607, rs727504801, rs727504738, rs727505115, rs727505283, rs727505109, rs727504271, rs727504321, rs727504289, rs727503172, rs727503180, rs727503182, rs727504265, rs727504334, rs727503192, rs397515932, rs727504287, rs200411226, rs727503204, rs727504269, rs367947846, rs730880335, rs727502897, rs727503166, rs111683277, rs727503195, rs727503203, rs727503212, rs727503738, rs727504381, rs727504356, rs727503261, rs727504238, rs148808089, rs45544633, rs727503246, rs397516171, rs727503253, rs202141173, rs727504310, rs727503258, rs727503260, rs727504320, rs727504240, rs727503263, rs727503269, rs727503278, rs727504432, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504379, rs727504389, rs727504275, rs727504557, rs727502994, rs727504184, rs730880336, rs730880362, rs730880199, rs730880246, rs72648265, rs730880243, rs730880242, rs730880241, rs574660186, rs730880245, rs730880082, rs730880092, rs730880093, rs730880055, rs397515939, rs730881119, rs397516020, rs730880675, rs730880719, rs730880672, rs730880671, rs730880718, rs730880666, rs730880717, rs730880655, rs730880715, rs730880654, rs730880714, rs730880651, rs730880648, rs730880713, rs730880546, rs730880695, rs730880533, rs730880531, rs730880639, rs730880689, rs730880686, rs730880629, rs368121566, rs375607980, rs730880704, rs730880698, rs730880750, rs730880748, rs730880875, rs730880845, rs1565623093, rs786204339, rs786204336, rs786204392, rs786204388, rs786204950, rs786204951, rs794727381, rs760576804, rs112188483, rs794728597, rs794728606, rs794728593, rs59564495, rs190140598, rs794728826, rs794728803, rs794728106, rs149701627, rs1554108152, rs770873593, rs794728124, rs141026028, rs794728094, rs794729098, rs794729116, rs764817683, rs751288871, rs201405287, rs794729137, rs794729133, rs766209297, rs767987619, rs769220833, rs794729120, rs112240298, rs748382770, rs794729365, rs794729301, rs757451467, rs794729359, rs794729354, rs794729353, rs794729285, rs794729284, rs794729338, rs794729332, rs368452607, rs794729278, rs794729325, rs794729324, rs754866489, rs794729265, rs751502842, rs794729320, rs794729380, rs748313513, rs797046064, rs863225113, rs863225106, rs761507504, rs864622224, rs1057515421, rs751039219, rs869025555, rs869025546, rs869025554, rs869025559, rs869025545, rs869025558, rs869025557, rs200797552, rs869025550, rs869025549, rs869025544, rs869025552, rs869025548, rs869025556, rs770029258, rs869025523, rs869025398, rs869025399, rs869025395, rs869025365, rs869025469, rs869025483, rs749838192, rs869312028, rs869312037, rs869312038, rs869312039, rs869312040, rs869312041, rs869312042, rs869312044, rs869312046, rs373040154, rs869312047, rs869312048, rs869312049, rs869312050, rs869312051, rs869312052, rs869312054, rs869312055, rs777602537, rs869312056, rs869312057, rs869312058, rs869312059, rs869312060, rs770038577, rs869312061, rs869312062, rs869312063, rs869312064, rs869312065, rs869312066, rs869312067, rs869312068, rs869312069, rs771562210, rs869312070, rs869312071, rs759231562, rs869312072, rs869312073, rs764243269, rs768345594, rs869312074, rs869312075, rs869312076, rs869312077, rs869312078, rs869312079, rs869312080, rs772121356, rs869312081, rs869312082, rs72648250, rs869312083, rs869312084, rs869312085, rs869312086, rs869312087, rs869312100, rs779129892, rs756367933, rs869312102, rs869312103, rs869312104, rs869312105, rs869312106, rs770767998, rs869312107, rs775186117, rs869312108, rs869312109, rs869312110, rs869312111, rs755261062, rs869312112, rs763824247, rs869312113, rs869312114, rs869312115, rs869312116, rs774604740, rs869312117, rs779996703, rs869312118, rs869312119, rs869312120, rs869312121, rs869312122, rs869312045, rs753948675, rs878854371, rs794728589, rs876657650, rs727503512, rs876658027, rs876657672, rs876657671, rs868494032, rs876657670, rs780512337, rs876657669, rs876657668, rs876657666, rs876657665, rs876657664, rs876657663, rs148894066, rs876657634, rs869248137, rs876657705, rs876657704, rs727503213, rs869025496, rs876657662, rs876657884, rs36211715, rs878855234, rs879255521, rs879255639, rs886038928, rs751746401, rs886039030, rs869038795, rs886039343, rs2069544, rs1114167341, rs1114167340, rs886041322, rs886042331, rs886043718, rs747662439, rs886043924, rs773840992, rs886044536, rs1057517903, rs754354190, rs779650200, rs902082118, rs1057518920, rs1057519457, rs1057523045, rs370072439, rs1064792916, rs1060500495, rs1060500575, rs926741242, rs774763657, rs746877365, rs1060500610, rs1060501484, rs1060501479, rs1064792928, rs1060501443, rs1060499604, rs1064793814, rs1064796347, rs977277400, rs1064793429, rs745811346, rs1064794350, rs1555142963, rs1064793983, rs769665204, rs751261054, rs769139957, rs1131691873, rs1131691655, rs1131691673, rs1464253797, rs1408345511, rs1553603152, rs1554398705, rs1322596650, rs1553539995, rs1553611989, rs749961489, rs1444727212, rs1243301263, rs971618751, rs1553662326, rs1389777522, rs764985774, rs1554108287, rs1554105911, rs1249913357, rs1554108012, rs111806457, rs1402879259, rs748416758, rs794727046, rs1425855043, rs869178171, rs1432810664, rs749465164, rs878898365, rs1419374180, rs770878165, rs1553503113, rs1553691320, rs1553577362, rs1553603456, rs1417036453, rs1553741321, rs1553479603, rs1553607425, rs974671846, rs1420159591, rs745688425, rs1554875409, rs1555144459, rs1555338080, rs1555338574, rs1555148035, rs200889953, rs1401116572, rs1285329277, rs974510652, rs1263987728, rs1555122928, rs992189342, rs1555142971, rs1553261855, rs1553265647, rs1553488049, rs1553644307, rs1553663867, rs1553940122, rs28763965, rs758891557, rs762110595, rs1555436118, rs1555435531, rs565910322, rs376766195, rs1562168768, rs763443331, rs1562169661, rs1370579526, rs1561703922, rs1564773559, rs1559003939, rs1559598775, rs1559415567, rs1559877046, rs776970935, rs553526525, rs1561698362, rs1561694696, rs1561702640, rs730880751, rs1060505018, rs766330686, rs1565631430, rs1565050320, rs876657767, rs1565053085, rs1565053147, rs1557778277, rs1557776329, rs886039136, rs771262904, rs727504314, rs1563000044, rs541612157, rs766265889, rs1558988204, rs1559051231, rs1559262463, rs1559448864, rs1559469421, rs1559556267, rs1559746821, rs1559873786, rs1561323791, rs1561445221, rs1561686893, rs1561698714, rs1561702549, rs1565623439, rs1565623713, rs1565626367, rs1565627110, rs1565627145, rs397515889, rs1565628520, rs774316050, rs1592798444, rs1565590309, rs1566967399, rs1569552936, rs1559712733, rs1561690319, rs1561701721, rs869125101, rs1595843553, rs1576018303, rs746115846, rs777315336, rs1431206462, rs1572358674, rs1477669354, rs1575584918, rs1575614351, rs72648222, rs1575799625, rs1576014673, rs1576147786, rs747469275, rs1581805658, rs1227662860, rs1585169831, rs1592729525, rs762753884, rs1596155145, rs1572358821, rs991187915, rs1575649368, rs1060500562, rs1450218521, rs775256998, rs1572332762, rs1571627006, rs1575253896, rs1575616801, rs1575775337, rs1575948935, rs1574083547, rs1574087037, rs1589632398, rs1585171818, rs1603365762, rs768079285, rs1575663327, rs1575796530, rs1574659116, rs267607001, rs1567093598, rs1572359848, rs1060500505, rs1575512482, rs1575872984, rs1161735211, rs1576141328, rs906494713, rs1576685753, rs1266489077, rs1581813564, rs778808038, rs397516363, rs1596386673, rs1575610911, rs727503266, rs1603377936, rs777702465, rs1708504899, rs2054381012, rs1575285509, rs1695435412, rs1699247877, rs879139686, rs2060187635, rs761380979, rs1464886350, rs1956192035, rs752522753, rs1205836993, rs2095894178
Hemochromatosis	Hemochromatosis, HEMOCHROMATOSIS, TYPE 3, Hemochromatosis type 3	rs74315323, rs1422879641, rs80338880, rs80338877, rs80338879, rs80338889, rs104893662, rs28939076, rs104893663, rs104893670, rs878854984, rs104893671, rs104893672, rs104893673, rs104893664, rs387906549, rs80338882, rs80338883, rs80338888, rs80338891, rs80338878, rs387907374, rs387907377, rs786204108, rs1057521155, rs1060501101, rs1060501102, rs773050231, rs1553492997, rs1553493234, rs1553493479, rs1553493481, rs1553494286, rs1553495699, rs1423207026, rs1220336558, rs750609759, rs1051249273, rs946552921, rs1449300685, rs768907730, rs1562837669, rs1405776096, rs1803297757, rs1422733588	17241880, 22383097, 21411349, 16935854, 14633868, 11313241, 26029709, 27604308, 29985876, 12130528
Hemoglobinopathy	Hemoglobin F Disease	rs35693898, rs34160180, rs33916412, rs35424040, rs33933298, rs33966761, rs35890959, rs35002698, rs33969677, rs33974936, rs33922842, rs35662066, rs34856846, rs35383398, rs63750532, rs35532010, rs63751076, rs33944208, rs33925391, rs63751128, rs33924775, rs35485099, rs36008922, rs33927093, rs33950507, rs63750128, rs34704828, rs63750513, rs34563000, rs281864581, rs1564874901, rs33949869, rs35395625, rs35133315, rs33979901, rs1847589398	16755567
Hereditary hemochromatosis	Hereditary hemochromatosis	rs111033563, rs944843686, rs80338877, rs80338882, rs80338888, rs80338891, rs80338878, rs146519482, rs786204108, rs749553271, rs765804978, rs773050231, rs1426704853, rs1554154042, rs1220336558, rs750609759, rs1562838535, rs1051249273, rs1388444100, rs1584460907, rs946552921, rs768907730, rs1562837669, rs1405776096, rs1803297757, rs749211542, rs1422733588, rs1803411479, rs1762684254	23600741, 26408288, 22383097, 16935854, 21411349, 17241880, 26029709
Hypogonadotropic hypogonadism	Hypogonadotropic hypogonadism	rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139
Neutropenia	Neutropenia	rs879253882

Unknown
Disease term	Disease name	Evidence	References	Source
Cirrhosis	Cirrhosis			ClinVar
Thalassemia	Thalassemia Minor, Thalassemia Intermedia		16755567	ClinVar
Alzheimer disease	Alzheimer disease			GWAS
Schizophrenia	Schizophrenia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Arthralgia	Associate	28276324
Arthritis	Associate	15319290
Autism Spectrum Disorder	Associate	31936202
beta Thalassemia	Associate	35355750
Carcinoma Hepatocellular	Associate	11675342, 17956864, 19828835, 20576915
Carcinoma Pancreatic Ductal	Associate	34258619
Colorectal Neoplasms	Associate	32375704
Crohn Disease	Associate	40527798
Diabetes Mellitus	Associate	15319290
Drug Related Side Effects and Adverse Reactions	Associate	20220060
Dysautonomia Familial	Associate	28276324
Fibrocartilaginous embolism	Associate	37480032
Ganglioneuroblastoma	Associate	31698611
Ganglioneuroma	Associate	31698611
Heart Failure	Associate	15319290
Hemochromatosis	Associate	11313241, 12091366, 12130528, 12406888, 15084147, 15147384, 15317665, 15319290, 15486069, 15521925, 16838333, 17202145, 17847004, 17956864, 18245657, 19759876, 19819738, 21173098, 21770687, 23556518, 25152992, 25352340, 25635054, 26633544, 26799139, 28276324, 29388418, 29743178, 33787609, 34048062, 34583728, 34946929, 35355750
Hemochromatosis type 2	Associate	15147384
Hemochromatosis type 3	Associate	11313241, 17298224, 19144662
Hepatitis C Chronic	Associate	37632052
Hyperferritinemia	Associate	34828384
Idiopathic Noncirrhotic Portal Hypertension	Associate	19307463
Immunologic Deficiency Syndromes	Associate	15671438
Intervertebral Disc Degeneration	Associate	37480032
Iron Deficiencies	Associate	25637053
Iron Overload	Associate	11313241, 12130528, 15147384, 16838333, 17202145, 18245657, 19819738, 20027482, 21770687, 23556518, 25635054, 25637053, 26633544, 26799139, 34048062, 35355750
Liver Cirrhosis	Associate	15319290
Macular Degeneration	Associate	24648608
Melanoma Cutaneous Malignant	Associate	32199022
Mitochondrial Diseases	Associate	24121126
Multiple Sclerosis	Associate	35682458
Neoplasms	Associate	19307463, 24338397, 31698611
Neoplastic Syndromes Hereditary	Associate	15521925, 28276324
Neuroblastoma	Associate	31698611
Non alcoholic Fatty Liver Disease	Stimulate	29065180
Obesity	Associate	24648608
Osteogenesis imperfecta type 3	Associate	29388418
Parkinson Disease	Associate	24121126
Porphyria Cutanea Tarda	Associate	17298224
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	15015967, 20220060
Prostatic Neoplasms	Associate	25080433
Stomach Neoplasms	Associate	32705773
Thyroid Cancer Papillary	Associate	37361050