FTL (ferritin light chain)

Gene

• Entrez ID: 2512
• Gene name: Ferritin light chain
• Gene symbol: FTL
• Synonyms (NCBI Gene): FTL1, LFTD, NBIA3
• Disease Acronyms (UniProt): LFTD, NBIA3
• Chromosome: 19
• Chromosome location: 19q13.33
• Summary: This gene encodes the light subunit of the ferritin protein. Ferritin is the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit compos

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2230267	T>C	Benign, likely-pathogenic	Synonymous variant, coding sequence variant
rs104894685	G>A	Pathogenic	Coding sequence variant, missense variant
rs139732572	A>G	Pathogenic	Initiator codon variant, missense variant, coding sequence variant
rs199869995	G>C,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs201241191	G>A	Likely-benign, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs373178636	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	3 prime UTR variant
rs397514540	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs398124633	A>G	Pathogenic	Coding sequence variant, 5 prime UTR variant, synonymous variant
rs398124634	G>C	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs398124635	G>A,C,T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs398124636	C>T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs398124637	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant, 5 prime UTR variant
rs398124638	G>C	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs398124639	GTCTCT>-	Pathogenic	Inframe deletion, coding sequence variant, 5 prime UTR variant
rs398124640	->GGCCCGGAGGCTGGGC	Pathogenic	Coding sequence variant, frameshift variant
rs587776840	->A	Pathogenic	Frameshift variant, coding sequence variant
rs886037622	C>T	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs886037623	T>G	Pathogenic	Synonymous variant, 5 prime UTR variant, coding sequence variant
rs1114167274	->CT	Pathogenic	Coding sequence variant, frameshift variant
rs1555796939	GGTCCCGCGGGTCTGTCTCTTGCTTCAAC>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs1555797129	CCCC>-	Likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021706	hsa-miR-133a-3p	Microarray	21396852
MIRT031525	hsa-miR-16-5p	Proteomics	18668040
MIRT021706	hsa-miR-133a-3p	Immunocytochemistry, Western blot	23969999
MIRT021706	hsa-miR-133a-3p	Immunocytochemistry, Western blot	23969999
MIRT1005659	hsa-miR-1258	CLIP-seq
MIRT1005660	hsa-miR-133a	CLIP-seq
MIRT1005661	hsa-miR-133b	CLIP-seq
MIRT1005662	hsa-miR-22	CLIP-seq
MIRT1005663	hsa-miR-2682	CLIP-seq
MIRT1005664	hsa-miR-298	CLIP-seq
MIRT1005665	hsa-miR-3135b	CLIP-seq
MIRT1005666	hsa-miR-3188	CLIP-seq
MIRT1005667	hsa-miR-320a	CLIP-seq
MIRT1005668	hsa-miR-320b	CLIP-seq
MIRT1005669	hsa-miR-320c	CLIP-seq
MIRT1005670	hsa-miR-320d	CLIP-seq
MIRT1005671	hsa-miR-3613-3p	CLIP-seq
MIRT1005672	hsa-miR-3652	CLIP-seq
MIRT1005673	hsa-miR-3653	CLIP-seq
MIRT1005674	hsa-miR-3658	CLIP-seq
MIRT1005675	hsa-miR-4419a	CLIP-seq
MIRT1005676	hsa-miR-4423-3p	CLIP-seq
MIRT1005677	hsa-miR-4429	CLIP-seq
MIRT1005678	hsa-miR-4430	CLIP-seq
MIRT1005679	hsa-miR-449c	CLIP-seq
MIRT1005680	hsa-miR-4505	CLIP-seq
MIRT1005681	hsa-miR-450b-5p	CLIP-seq
MIRT1005682	hsa-miR-4510	CLIP-seq
MIRT1005683	hsa-miR-4708-3p	CLIP-seq
MIRT1005684	hsa-miR-4711-5p	CLIP-seq
MIRT1005685	hsa-miR-587	CLIP-seq
MIRT1005686	hsa-miR-647	CLIP-seq
MIRT1005687	hsa-miR-651	CLIP-seq
MIRT1005688	hsa-miR-940	CLIP-seq
MIRT1005659	hsa-miR-1258	CLIP-seq
MIRT1005660	hsa-miR-133a	CLIP-seq
MIRT1005661	hsa-miR-133b	CLIP-seq
MIRT1005662	hsa-miR-22	CLIP-seq
MIRT1005663	hsa-miR-2682	CLIP-seq
MIRT1005664	hsa-miR-298	CLIP-seq
MIRT1005665	hsa-miR-3135b	CLIP-seq
MIRT1005666	hsa-miR-3188	CLIP-seq
MIRT1005667	hsa-miR-320a	CLIP-seq
MIRT1005668	hsa-miR-320b	CLIP-seq
MIRT1005669	hsa-miR-320c	CLIP-seq
MIRT1005670	hsa-miR-320d	CLIP-seq
MIRT1005671	hsa-miR-3613-3p	CLIP-seq
MIRT1005672	hsa-miR-3652	CLIP-seq
MIRT1005673	hsa-miR-3653	CLIP-seq
MIRT1005674	hsa-miR-3658	CLIP-seq
MIRT1005675	hsa-miR-4419a	CLIP-seq
MIRT1005676	hsa-miR-4423-3p	CLIP-seq
MIRT1005677	hsa-miR-4429	CLIP-seq
MIRT1005678	hsa-miR-4430	CLIP-seq
MIRT1005679	hsa-miR-449c	CLIP-seq
MIRT1005680	hsa-miR-4505	CLIP-seq
MIRT1005681	hsa-miR-450b-5p	CLIP-seq
MIRT1005682	hsa-miR-4510	CLIP-seq
MIRT1005683	hsa-miR-4708-3p	CLIP-seq
MIRT1005684	hsa-miR-4711-5p	CLIP-seq
MIRT1005685	hsa-miR-587	CLIP-seq
MIRT1005686	hsa-miR-647	CLIP-seq
MIRT1005687	hsa-miR-651	CLIP-seq
MIRT1005688	hsa-miR-940	CLIP-seq
MIRT1005659	hsa-miR-1258	CLIP-seq
MIRT1005662	hsa-miR-22	CLIP-seq
MIRT1005665	hsa-miR-3135b	CLIP-seq
MIRT1005667	hsa-miR-320a	CLIP-seq
MIRT1005668	hsa-miR-320b	CLIP-seq
MIRT1005669	hsa-miR-320c	CLIP-seq
MIRT1005670	hsa-miR-320d	CLIP-seq
MIRT1005672	hsa-miR-3652	CLIP-seq
MIRT1005673	hsa-miR-3653	CLIP-seq
MIRT1005674	hsa-miR-3658	CLIP-seq
MIRT1005675	hsa-miR-4419a	CLIP-seq
MIRT1005677	hsa-miR-4429	CLIP-seq
MIRT1005678	hsa-miR-4430	CLIP-seq
MIRT1005680	hsa-miR-4505	CLIP-seq
MIRT1005682	hsa-miR-4510	CLIP-seq
MIRT1005686	hsa-miR-647	CLIP-seq
MIRT1005687	hsa-miR-651	CLIP-seq
MIRT1005659	hsa-miR-1258	CLIP-seq
MIRT1005660	hsa-miR-133a	CLIP-seq
MIRT1005661	hsa-miR-133b	CLIP-seq
MIRT1005662	hsa-miR-22	CLIP-seq
MIRT1005663	hsa-miR-2682	CLIP-seq
MIRT1005664	hsa-miR-298	CLIP-seq
MIRT1005665	hsa-miR-3135b	CLIP-seq
MIRT1005666	hsa-miR-3188	CLIP-seq
MIRT1005667	hsa-miR-320a	CLIP-seq
MIRT1005668	hsa-miR-320b	CLIP-seq
MIRT1005669	hsa-miR-320c	CLIP-seq
MIRT1005670	hsa-miR-320d	CLIP-seq
MIRT1005672	hsa-miR-3652	CLIP-seq
MIRT1005673	hsa-miR-3653	CLIP-seq
MIRT1005674	hsa-miR-3658	CLIP-seq
MIRT1005675	hsa-miR-4419a	CLIP-seq
MIRT1005676	hsa-miR-4423-3p	CLIP-seq
MIRT1005677	hsa-miR-4429	CLIP-seq
MIRT1005678	hsa-miR-4430	CLIP-seq
MIRT1005679	hsa-miR-449c	CLIP-seq
MIRT1005680	hsa-miR-4505	CLIP-seq
MIRT1005682	hsa-miR-4510	CLIP-seq
MIRT1005685	hsa-miR-587	CLIP-seq
MIRT1005686	hsa-miR-647	CLIP-seq
MIRT1005687	hsa-miR-651	CLIP-seq
MIRT1005688	hsa-miR-940	CLIP-seq
MIRT1005659	hsa-miR-1258	CLIP-seq
MIRT1005660	hsa-miR-133a	CLIP-seq
MIRT1005661	hsa-miR-133b	CLIP-seq
MIRT1005662	hsa-miR-22	CLIP-seq
MIRT2231658	hsa-miR-24	CLIP-seq
MIRT1005663	hsa-miR-2682	CLIP-seq
MIRT1005664	hsa-miR-298	CLIP-seq
MIRT1005665	hsa-miR-3135b	CLIP-seq
MIRT1005666	hsa-miR-3188	CLIP-seq
MIRT1005667	hsa-miR-320a	CLIP-seq
MIRT1005668	hsa-miR-320b	CLIP-seq
MIRT1005669	hsa-miR-320c	CLIP-seq
MIRT1005670	hsa-miR-320d	CLIP-seq
MIRT1005671	hsa-miR-3613-3p	CLIP-seq
MIRT1005672	hsa-miR-3652	CLIP-seq
MIRT1005673	hsa-miR-3653	CLIP-seq
MIRT1005674	hsa-miR-3658	CLIP-seq
MIRT2231659	hsa-miR-378g	CLIP-seq
MIRT1005675	hsa-miR-4419a	CLIP-seq
MIRT1005676	hsa-miR-4423-3p	CLIP-seq
MIRT1005677	hsa-miR-4429	CLIP-seq
MIRT1005678	hsa-miR-4430	CLIP-seq
MIRT2231660	hsa-miR-4437	CLIP-seq
MIRT1005679	hsa-miR-449c	CLIP-seq
MIRT1005680	hsa-miR-4505	CLIP-seq
MIRT1005681	hsa-miR-450b-5p	CLIP-seq
MIRT1005682	hsa-miR-4510	CLIP-seq
MIRT2231661	hsa-miR-4674	CLIP-seq
MIRT1005683	hsa-miR-4708-3p	CLIP-seq
MIRT1005684	hsa-miR-4711-5p	CLIP-seq
MIRT1005685	hsa-miR-587	CLIP-seq
MIRT1005686	hsa-miR-647	CLIP-seq
MIRT1005687	hsa-miR-651	CLIP-seq
MIRT1005688	hsa-miR-940	CLIP-seq
MIRT1005659	hsa-miR-1258	CLIP-seq
MIRT1005660	hsa-miR-133a	CLIP-seq
MIRT1005661	hsa-miR-133b	CLIP-seq
MIRT1005673	hsa-miR-3653	CLIP-seq
MIRT1005674	hsa-miR-3658	CLIP-seq
MIRT1005675	hsa-miR-4419a	CLIP-seq
MIRT1005682	hsa-miR-4510	CLIP-seq
MIRT1005685	hsa-miR-587	CLIP-seq
MIRT1005687	hsa-miR-651	CLIP-seq
MIRT1005659	hsa-miR-1258	CLIP-seq
MIRT1005660	hsa-miR-133a	CLIP-seq
MIRT1005661	hsa-miR-133b	CLIP-seq
MIRT1005662	hsa-miR-22	CLIP-seq
MIRT1005663	hsa-miR-2682	CLIP-seq
MIRT1005664	hsa-miR-298	CLIP-seq
MIRT1005665	hsa-miR-3135b	CLIP-seq
MIRT1005666	hsa-miR-3188	CLIP-seq
MIRT1005667	hsa-miR-320a	CLIP-seq
MIRT1005668	hsa-miR-320b	CLIP-seq
MIRT1005669	hsa-miR-320c	CLIP-seq
MIRT1005670	hsa-miR-320d	CLIP-seq
MIRT1005672	hsa-miR-3652	CLIP-seq
MIRT1005673	hsa-miR-3653	CLIP-seq
MIRT1005674	hsa-miR-3658	CLIP-seq
MIRT1005675	hsa-miR-4419a	CLIP-seq
MIRT1005676	hsa-miR-4423-3p	CLIP-seq
MIRT1005677	hsa-miR-4429	CLIP-seq
MIRT1005678	hsa-miR-4430	CLIP-seq
MIRT1005679	hsa-miR-449c	CLIP-seq
MIRT1005680	hsa-miR-4505	CLIP-seq
MIRT1005682	hsa-miR-4510	CLIP-seq
MIRT1005685	hsa-miR-587	CLIP-seq
MIRT1005686	hsa-miR-647	CLIP-seq
MIRT1005687	hsa-miR-651	CLIP-seq
MIRT1005688	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005506	Function	Iron ion binding	IDA	19923220, 20159981
GO:0005515	Function	Protein binding	IPI	16169070, 16189514, 17143515, 18486613, 21516116, 23275563, 23685131, 25416956, 25910212, 28514442, 31515488, 32296183, 32814053
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0006826	Process	Iron ion transport	IEA
GO:0006879	Process	Cellular iron ion homeostasis	TAS
GO:0006880	Process	Intracellular sequestering of iron ion	IBA	21873635
GO:0008043	Component	Intracellular ferritin complex	IDA	19923220, 20159981
GO:0008198	Function	Ferrous iron binding	IBA	21873635
GO:0008199	Function	Ferric iron binding	IBA	21873635
GO:0016020	Component	Membrane	HDA	19946888
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0042802	Function	Identical protein binding	IPI	16169070, 16189514, 16790936, 25416956, 25502805, 25910212, 31515488
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0044754	Component	Autolysosome	IDA	25327288
GO:0055072	Process	Iron ion homeostasis	TAS	19923220
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145

Other IDs

• MIM: 134790
• HGNC: 3999
• e!Ensembl: ENSG00000087086

Protein

• UniProt ID: P02792
• Protein name: Ferritin light chain (Ferritin L subunit)
• Protein function: Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of iron to cells. Mediates iron u
• PDB: 2FFX, 2FG4, 2FG8, 3KXU, 4V6B, 5LG8, 6TR9, 6TS0, 6TS1, 6TSA, 6TSF, 6TSJ, 6WX6
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00210	Ferritin	14 → 155	Ferritin-like domain	Domain

• Sequence:

  MSSQIRQNYSTDVEAAVNSLVNLYLQASYTYLSLGFYFDRDDVALEGVSHFFRELAEEKR
  EGYERLLKMQNQRGGRALFQDIKKPAEDEWGKTPDAMKAAMALEKKLNQALLDLHALGSA
  RTDPHLCDFLETHFLDEEVKLIKKMGDHLTNLHRLGGPEAGLGEYLFERLTLKHD

• Sequence length: 175

Pathways

KEGG:

Porphyrin metabolism
Ferroptosis
Necroptosis
Mineral absorption

Reactome:

Golgi Associated Vesicle Biogenesis
Neutrophil degranulation
Iron uptake and transport

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Arthritis	Degenerative polyarthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	18784066
Cataract	Cataract, Embryonal nuclear cataract (disorder), Nuclear cataract, Nuclear non-senile cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Developmental regression	Developmental regression	rs1224421127
Hereditary hyperferritinemia with congenital cataracts	Hereditary hyperferritinemia-cataract syndrome, Hyperferritinemia, hereditary, with congenital cataracts	rs398124633, rs398124634, rs398124635, rs1555796939, rs398124636, rs398124637, rs398124638, rs398124639, rs397514540	10759702, 9226182, 10383191, 11849230, 2336358, 19176363, 7493028, 9414313, 22881709, 19800271, 23421845
Spastic diplegia	Little`s Disease	rs672601336
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Neuroferritinopathy	Neuroferritinopathy	rs104894685, rs1114167274, rs398124640, rs587776840	2336358, 16116125, 9226182, 19176363, 23421845, 10383191, 22881709, 24209436, 19800271, 7493028, 9414313
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829	20882379
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Parkinson disease	Parkinsonian Disorders	rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121918104, rs1589451049, rs104893877, rs104893878, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106
Seizure	Generalized seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130

Unknown
Disease term	Disease name	Evidence	References	Source
Mental depression	Endogenous depression, Depressive disorder, Unipolar Depression, Depressive Syndrome, Depression, Neurotic		17063146	ClinVar
Congenital Cataract	hereditary hyperferritinemia with congenital cataracts			GenCC
Asthma	Asthma			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Alzheimer Disease	Associate	33597025
Arthritis Rheumatoid	Associate	9122163
Asthma Occupational	Inhibit	20345975
Ataxia	Associate	16116125
Brain Neoplasms	Associate	28837569
Breast Neoplasms	Associate	22355776, 22552268
Carcinoma Hepatocellular	Associate	31432149, 39528670
Carcinoma Pancreatic Ductal	Associate	40019403
Cataract	Associate	15283633, 16518306, 21139976, 24003015, 28636169, 28746593, 36287435, 37569253, 9226182
Cataract	Stimulate	34064225
Cognition Disorders	Associate	16116125, 29186589
Colorectal Neoplasms	Associate	37086630
Corneal Opacity	Associate	37569253
Corticobasal Degeneration	Associate	40082954
Cysts	Associate	24225180
Dementia Vascular	Associate	24448401
Diabetic Nephropathies	Inhibit	37150518
Esophageal Squamous Cell Carcinoma	Associate	33176591
Genetic Diseases Inborn	Associate	28636169
Gestational Trophoblastic Disease	Associate	16222695
Glioblastoma	Stimulate	26871431, 37441589
Glioblastoma	Associate	28837569
Glioma	Associate	23029420, 32484805, 33864445, 37441589
Hearing Loss Bilateral	Associate	16116125
Hemochromatosis	Associate	24003015
Hepatitis B	Associate	22552268
Huntington Disease	Associate	16858508
Hydatidiform Mole	Associate	16222695
Hyperferritinemia	Associate	15283633, 16518306, 19176363, 34064225, 37569253
Hyperferritinemia hereditary with congenital cataracts	Associate	15283633, 19176363, 21139976, 21541272, 24003015, 27096259, 28636169, 28746593, 30401656, 34064225, 36287435, 37569253, 7492760, 9226182, 9292547, 9596665
Hypoalphalipoproteinemias	Associate	16858508
Hypoxia	Associate	15026807
Hypoxia Brain	Associate	18160403
Idiopathic Pulmonary Fibrosis	Inhibit	35326483
Inflammation	Associate	23029420
Inflammatory Bowel Diseases	Associate	9122163
Leukemia Myeloid Acute	Associate	33284559
Lung Neoplasms	Associate	29576497
Lymphoma Non Hodgkin	Associate	32484805
Mesothelioma Malignant	Associate	31442913
Myelodysplastic Syndromes	Associate	32705249
Nasopharyngeal Carcinoma	Associate	16308470
Neoplasm Metastasis	Associate	29771443
Neoplasms	Associate	23029420, 28216608, 28837569, 32484805, 33864445
Neoplasms	Inhibit	29771443
Neoplastic Syndromes Hereditary	Associate	29269865, 37660254
Neurodegenerative Diseases	Associate	22348978
Neuroferritinopathy	Associate	16116125, 22278127, 22499840, 24825732, 26142024, 33244127
Osteosarcoma	Associate	17660802
Osteosarcoma	Inhibit	29771443
Pancytopenia	Associate	32705249, 35572557
Pantothenate Kinase Associated Neurodegeneration	Associate	16116125, 28821231, 39419454
Parkinson Disease Secondary	Associate	16116125
Prostatic Hyperplasia	Associate	28730787
Prostatic Neoplasms	Associate	28730787
Psychotic Disorders	Associate	16116125
Respiratory Sounds	Stimulate	37353771
Silicosis	Stimulate	35176813
Spinocerebellar Ataxia 17	Associate	16858508
Squamous Cell Carcinoma of Head and Neck	Associate	33864445
Thymoma	Associate	36991043