HAMP (hepcidin antimicrobial peptide)

Gene

• Entrez ID: 57817
• Gene name: Hepcidin antimicrobial peptide
• Gene symbol: HAMP
• Synonyms (NCBI Gene): HEPC, HFE2B, LEAP1, PLTR
• Disease Acronyms (UniProt): HFE2B
• Chromosome: 19
• Chromosome location: 19q13.12
• Summary: The product encoded by this gene is involved in the maintenance of iron homeostasis, and it is necessary for the regulation of iron storage in macrophages, and for intestinal iron absorption. The preproprotein is post-translationally cleaved into mature p

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894695	C>T	Pathogenic	Coding sequence variant, stop gained
rs104894696	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, risk-factor, benign	Coding sequence variant, missense variant
rs763369315	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs1189025914	G>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT737234	hsa-miR-184	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), qRT-PCR	33021399

Transcription factors

Transcription factor	Regulation	Reference
CEBPA	Activation	18671304
GATA4	Activation	21609320
STAT3	Activation	18671304
STAT3	Unknown	16835372

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0002262	Process	Myeloid cell homeostasis	IEA
GO:0005179	Function	Hormone activity	IEA
GO:0005507	Function	Copper ion binding	IEA
GO:0005576	Component	Extracellular region	NAS	11034317
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005634	Component	Nucleus	IEA
GO:0006879	Process	Cellular iron ion homeostasis	IBA	21873635
GO:0006879	Process	Cellular iron ion homeostasis	IDA	15514116
GO:0006953	Process	Acute-phase response	IEA
GO:0006955	Process	Immune response	TAS	11113131
GO:0007259	Process	Receptor signaling pathway via JAK-STAT	IEA
GO:0007568	Process	Aging	IEA
GO:0010039	Process	Response to iron ion	IMP	12469120
GO:0010043	Process	Response to zinc ion	IEA
GO:0014704	Component	Intercalated disc	IEA
GO:0031640	Process	Killing of cells of other organism	IEA
GO:0033189	Process	Response to vitamin A	IEA
GO:0034760	Process	Negative regulation of iron ion transmembrane transport	IBA	21873635
GO:0036017	Process	Response to erythropoietin	IEA
GO:0042742	Process	Defense response to bacterium	IBA	21873635
GO:0043032	Process	Positive regulation of macrophage activation	IEA
GO:0045179	Component	Apical cortex	IEA
GO:0045471	Process	Response to ethanol	IEA
GO:0045779	Process	Negative regulation of bone resorption	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0050728	Process	Negative regulation of inflammatory response	IEA
GO:0050832	Process	Defense response to fungus	IEA
GO:0060586	Process	Multicellular organismal iron ion homeostasis	IMP	12469120
GO:0061051	Process	Positive regulation of cell growth involved in cardiac muscle cell development	IEA
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071354	Process	Cellular response to interleukin-6	IEA
GO:0071356	Process	Cellular response to tumor necrosis factor	IEA
GO:0071481	Process	Cellular response to X-ray	IEA
GO:0097421	Process	Liver regeneration	IEA
GO:1903364	Process	Positive regulation of cellular protein catabolic process	IEA
GO:1903413	Process	Cellular response to bile acid	IEA
GO:1904479	Process	Negative regulation of intestinal absorption	IMP	12469120
GO:1990641	Process	Response to iron ion starvation	IEA

Other IDs

• MIM: 606464
• HGNC: 15598
• e!Ensembl: ENSG00000105697

Protein

• UniProt ID: P81172
• Protein name: Hepcidin (Liver-expressed antimicrobial peptide 1) (LEAP-1) (Putative liver tumor regressor) (PLTR) [Cleaved into: Hepcidin-25 (Hepc25); Hepcidin-20 (Hepc20)]
• Protein function: Liver-produced hormone that constitutes the main circulating regulator of iron absorption and distribution across tissues. Acts by promoting endocytosis and degradation of ferroportin/SLC40A1, leading to the retention of iron in iron-exporting c
• PDB: 1M4E, 1M4F, 2KEF, 3H0T, 4QAE, 6WBV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06446	Hepcidin	33 → 84	Hepcidin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highest expression in liver and to a lesser extent in heart and brain. Low levels in lung, tonsils, salivary gland, trachea, prostate gland, adrenal gland and thyroid gland. Secreted into the urine and blood (PubMed:11034317). Expresse
• Sequence:

  MALSSQIWAACLLLLLLLASLTSGSVFPQQTGQLAELQPQDRAGARASWMPMFQRRRRRD
  THFPICIFCCGCCHRSKCGMCCKT

• Sequence length: 84

Pathways

KEGG:

Hormone signaling
TGF-beta signaling pathway

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	16627556, 24086573, 16434484
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	Cardiomyopathy, Dilated, 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
Diabetes mellitus	Diabetes Mellitus	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261
Hemochromatosis	Hemochromatosis, HEMOCHROMATOSIS, TYPE 2B, HEMOCHROMATOSIS, TYPE 1, Hemochromatosis type 2	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	16574947, 21411349, 19252486, 17255318, 22383097, 16627556, 12915468, 14630809, 15099344, 27604308, 14633868, 14670915
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	22383097, 16574947, 17255318, 16627556, 21411349, 19252486
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287

Unknown
Disease term	Disease name	Evidence	References	Source
Cirrhosis	Cirrhosis			ClinVar
Congestive heart failure	Congestive heart failure			ClinVar
Heart failure	Heart Failure, Diastolic		29556499	ClinVar
Iron overload	Iron Overload		20801540, 22659129	ClinVar
Thalassemia	Thalassemia Minor, Thalassemia Intermedia		16755567	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency	Associate	38098073
alpha Thalassemia	Associate	30517728
Alzheimer Disease	Associate	34180415
Anemia	Associate	16332970, 18166793, 19093740, 19681654, 20019408, 20299375, 20406921, 20679527, 21239805, 23512600, 24014495, 24119518, 25745821, 25904736, 28210014, 30089125, 30204470, 31517041, 31814801, 32153255, 32769953, 36698076, 37115087, 38102707
Anemia	Inhibit	19833632
Anemia Dyserythropoietic Congenital	Inhibit	15671438
Anemia Hemolytic	Associate	17593032, 20026331, 21143959
Anemia hypochromic microcytic	Associate	17550864
Anemia Iron Deficiency	Associate	17488680, 18603562, 19357398, 20966077, 25588876, 25943891, 29110513, 30630976, 37100605
Anemia Iron Deficiency	Inhibit	25745821, 32446932
Anemia Refractory	Associate	23540794
Anemia Sickle Cell	Associate	23065513, 29157161, 30517728, 34883086
Anti Neutrophil Cytoplasmic Antibody Associated Vasculitis	Associate	30204470
Arthritis Juvenile	Associate	34257378
Arthritis Rheumatoid	Associate	24014495
Astrocytoma	Associate	19386095
Atherosclerosis	Associate	26159428
Autism Spectrum Disorder	Associate	31936202
beta Thalassemia	Inhibit	16939499, 18166793
beta Thalassemia	Associate	17488680, 17640859, 20712769, 23905873, 25519750, 25923089, 28943547, 29157161, 31276102, 32268883, 32588561
Brain Ischemia	Associate	31346934
Breast Neoplasms	Associate	21062518, 21875943, 28216608, 32960376
Breast Neoplasms	Stimulate	26944411
Carcinogenesis	Associate	18322945, 34258619
Carcinoma	Associate	34001107
Carcinoma Hepatocellular	Associate	17593032, 18541040, 20026331, 20576915, 21143959, 21289291, 22851866, 23110054, 27264950, 27694815, 34001107, 36830729
Carcinoma Hepatocellular	Inhibit	21863061
Carcinoma Non Small Cell Lung	Associate	29745043
Carcinoma Pancreatic Ductal	Associate	34258619
Carcinoma Renal Cell	Associate	19656379, 34402193, 36673667
Carcinoma Renal Cell	Stimulate	36585741
Cardiomyopathies	Associate	29743178
Cardiomyopathy Dilated	Associate	36769209
Cardiovascular Diseases	Associate	23144745
Chemical and Drug Induced Liver Injury	Associate	23144979, 33673803, 36309641
Cholangiocarcinoma	Associate	29247214
Cholangitis Sclerosing	Inhibit	26270641
Chronic Disease	Associate	12956771, 16332970, 16434484, 18073346, 19681654, 19863534, 22932892, 23433094, 24014495, 31814801
Chronic Periodontitis	Associate	29636044
Colorectal Neoplasms	Associate	18322945
Congenital atransferrinemia	Associate	25486930
COVID 19	Associate	33525240, 35181867, 36183555
Crohn Disease	Inhibit	31814801
Cytokine Release Syndrome	Stimulate	24286116, 37884101
Death	Associate	25904736, 29532452, 31346934
Dehydrated Hereditary Stomatocytosis Pseudohyperkalemia and Perinatal Edema	Associate	31737919
Diabetes Complications	Stimulate	31699745
Diabetes Mellitus	Associate	25238834
Diabetes Mellitus Type 2	Associate	25238834, 29636044, 37312616
Down Syndrome	Associate	35162984
Endometriosis	Associate	37884101
Epstein Barr Virus Infections	Stimulate	36675141
Familial apoceruloplasmin deficiency	Associate	20655381, 20801540
Familial Mediterranean Fever	Associate	32174062
Familial Primary Pulmonary Hypertension	Associate	21737024
Fever	Associate	19608676
Fibrosis	Associate	19998511
Friedreich Ataxia	Stimulate	31049138
Gastritis	Associate	37100605
Gaucher Disease	Associate	35886988
Genetic Diseases Inborn	Associate	19383972
Genetic Diseases Inborn	Inhibit	33513852
Glioma	Associate	36377597
Hearing Loss Sensorineural	Associate	25789325
Heart Diseases	Associate	32268883
Heart Failure	Associate	20019408, 31632400
Helicobacter Infections	Stimulate	37100605
Hemochromatosis	Associate	12637325, 14670915, 15198949, 15486069, 16103117, 16838333, 17724144, 17847004, 18557745, 18824595, 18925311, 19286879, 19342478, 19383972, 19608676, 20863724, 21173098, 21815188, 23433094, 23775519, 25633564, 26799139, 28335084, 28943547, 29154924, 29388418, 29454332, 29743178, 31090790, 31276102, 32450003, 33513852, 34258619, 34583728, 38252872
Hemochromatosis	Inhibit	22675794, 33326952
Hemochromatosis type 2	Associate	14630809, 14982873, 15198949, 15486069, 17229647, 19342478, 25152992
Hemochromatosis type 2	Inhibit	20530805
Hemochromatosis type 3	Associate	19144662
Hemochromatosis type 4	Associate	15671438, 15831700, 28681497, 32450003
Hemoglobinopathies	Associate	30517728
Hemolysis	Associate	31517041
Hepatitis Autoimmune	Inhibit	26270641
Hepatitis C	Associate	23110054, 27058404, 31243222, 32720970
Hepatitis C	Inhibit	25330009
Hepatitis C Chronic	Inhibit	17515961, 24718935
Hepatitis C Chronic	Associate	25330009, 27058404, 27125837, 30186818
Hip Injuries	Inhibit	34172608
HIV Infections	Associate	25904736
Hodgkin Disease	Stimulate	20406921
Hyperferritinemia	Associate	31090790, 34828384
Hyperferritinemia hereditary with congenital cataracts	Associate	20653062
Hypertension	Associate	29390526
Hyperthyroidism	Associate	28833367
Hypogonadism	Associate	29743178
Hypoxia	Associate	16835372, 20966077
Hypoxia	Inhibit	20019408, 20026331, 21289291, 22130801
Hypoxia	Stimulate	29459227
Idiopathic Noncirrhotic Portal Hypertension	Associate	19307463
Immunologic Deficiency Syndromes	Inhibit	15671438, 17229647, 17488680, 20712769
Immunologic Deficiency Syndromes	Associate	32450003
Infections	Stimulate	12433676, 17515961, 20026331, 27058404
Infections	Associate	29764842
Inflammation	Associate	12433676, 15486069, 16621968, 16835372, 16946298, 17515961, 17593032, 17847004, 18073346, 19093740, 19454498, 19608676, 19681654, 20019408, 20299375, 20406921, 20644113, 20679527, 20801192, 21239805, 22611049, 23512600, 23905873, 24286116, 24391488, 25633564, 25904736, 26561622, 28051796, 30204470, 31052280, 31090790, 31771607, 33272965, 34663434, 37658365, 37884101
Inflammation	Stimulate	15198949, 18689548, 19536851, 19816411, 20026331, 25525212, 30630976, 34063273, 34132349
Inflammatory Bowel Diseases	Associate	31814801, 35029158, 39415526
Insulin Resistance	Associate	23144745, 25923089
Iron Deficiencies	Associate	14630809, 16835372, 18689548, 19816411, 19818657, 20576915, 20713458, 21737024, 22611049, 23433094, 25745821, 25904736, 27125837, 31517041, 34444676, 35029158
Iron Deficiencies	Inhibit	20210929, 21973163, 22130801
Iron Metabolism Disorders	Associate	20299375, 21609320, 25633564, 25943891
Iron Overload	Associate	12433676, 14630809, 14670915, 15198949, 16835372, 16939499, 16946298, 17640859, 17724144, 18166793, 18469261, 18809758, 19286879, 19383972, 19998511, 20712769, 20801540, 21143959, 21173098, 22586470, 22682227, 23540794, 23593016, 23775519, 24998898, 25330009, 25486930, 25519750, 26633544, 26799139, 28681497, 29764842, 29871592, 29956370, 31243222, 31628297, 32268883, 32278200, 32450003, 32588561, 34258619, 34883086, 35477031
Iron Refractory Iron Deficiency Anemia	Associate	12956771, 22581667, 27643674, 32253873, 32446932, 35893046
Jaundice	Associate	36309641
Keratomalacia	Stimulate	31052280
Kidney Failure Chronic	Associate	19541813, 32720970
Leprosy	Associate	23283470
Leprosy Lepromatous	Associate	23283470
Leukemia Erythroblastic Acute	Associate	16332970
Liver Cirrhosis	Associate	17640859, 19998511
Liver Cirrhosis Biliary	Inhibit	26270641
Liver Diseases	Associate	17515961, 19998511, 26270641, 36309641
Liver Diseases Alcoholic	Inhibit	24894955
Liver Failure	Associate	25805936, 26270641, 27694815, 37312616
Liver Failure	Stimulate	29956370
Lung Neoplasms	Associate	30640897
Lung Neoplasms	Stimulate	33868231
Lupus Erythematosus Systemic	Stimulate	30204470
Lupus Nephritis	Associate	20801192
Malaria	Stimulate	31771607
Metabolic Diseases	Associate	24875397, 34063273
Metabolic Syndrome	Stimulate	23144745
Metabolic Syndrome	Associate	31090790
Mucocutaneous Lymph Node Syndrome	Associate	29501389
Multi centric Castleman's Disease	Associate	17550864, 20644113
Multiple Myeloma	Stimulate	18689548, 20679527
Multiple Myeloma	Associate	28210014
Multiple Sclerosis	Associate	22883388, 35682458
Myelodysplastic Syndromes	Associate	23300182, 23540794
Neonatal hemochromatosis	Associate	36309641
Neonatal Sepsis	Associate	29532452
Neoplasms	Associate	17593032, 19307463, 19656379, 23991213, 29247214, 29745043, 32153255, 36585741, 36673667
Neoplasms	Stimulate	22851866, 28216608
Neoplasms Adipose Tissue	Associate	34063273
Neoplastic Syndromes Hereditary	Associate	25486930, 31054269
Neurodegenerative Diseases	Associate	35162984
Neuronopathy Distal Hereditary Motor Type V	Associate	31052280
Nocturnal Myoclonus Syndrome	Associate	37563071
Non alcoholic Fatty Liver Disease	Associate	18469261, 22611049, 26270641, 29871592
Non alcoholic Fatty Liver Disease	Stimulate	22586470
Obesity	Associate	19681654, 19816411, 21771327, 22722675, 23512600, 29065180, 31699745, 32960376, 34132349
Obesity	Stimulate	34063273
Obesity Maternal	Associate	22722675, 34132349
Ovalocytosis Hereditary Hemolytic with Defective Erythropoiesis	Associate	16332970
Ovarian Neoplasms	Associate	38186569
Overweight	Stimulate	30244162
Parasitemia	Stimulate	24520384
Parkinson Disease	Associate	35162984
Peritonitis	Associate	25549329
Polycystic Ovary Syndrome	Associate	24875397, 40057801
Polycythemia	Associate	20660052, 38244120
Polycythemia Vera	Associate	32873465
Porphyria Cutanea Tarda	Associate	18809758
Prostatic Neoplasms	Associate	25858146, 29135121
Pulmonary Arterial Hypertension	Associate	35442992
Pulmonary edema of mountaineers	Associate	25525212
Pyruvate Kinase Deficiency of Red Cells	Associate	19120353, 24533562, 36927785
Renal Insufficiency	Associate	16621968
Renal Insufficiency Chronic	Stimulate	18689548
Renal Insufficiency Chronic	Associate	37115087
Restless Legs Syndrome	Associate	37563071
Ring Chromosomes	Associate	23540794
Siderosis	Associate	18809758, 35477031
Sleep Wake Disorders	Associate	31936202
Smoke Inhalation Injury	Associate	28833367
Squamous Cell Carcinoma of Head and Neck	Associate	23991213
Subarachnoid Hemorrhage	Associate	31346934
Symphalangism C. S. Lewis Type	Associate	26244503
Tay Sachs Disease AB Variant	Associate	37715818
Thalassemia	Inhibit	15671438, 20712769
Thalassemia	Associate	18166793, 29157161, 32268883, 34644351, 36309641
Thalassemia	Stimulate	23905873
Tuberculosis	Associate	31252187
Tuberculosis Lymph Node	Associate	36341407
Tuberculosis Pulmonary	Associate	31252187
Vasospasm Intracranial	Associate	31346934
Virus Diseases	Associate	27694815
Waardenburg Syndrome Type 4b	Associate	29154924
Wounds and Injuries	Stimulate	29768025, 32769953