FTL (ferritin light chain)

Gene

• Entrez ID: 2512
• Gene name: Ferritin light chain
• Gene symbol: FTL
• Synonyms (NCBI Gene): FTL1, 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:0005506	Function	Iron ion binding	TAS	7493028
GO:0005515	Function	Protein binding	IPI	16169070, 16189514, 17143515, 18486613, 21516116, 23275563, 23685131, 25327288, 25416956, 25910212, 28514442, 31515488, 32296183, 32814053, 33961781
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005776	Component	Autophagosome	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006826	Process	Iron ion transport	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	TAS	7492760
GO:0008198	Function	Ferrous iron binding	IBA
GO:0008199	Function	Ferric iron binding	IBA
GO:0008199	Function	Ferric iron binding	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0042802	Function	Identical protein binding	IPI	16169070, 16189514, 16790936, 25416956, 25502805, 25910212, 31515488
GO:0044754	Component	Autolysosome	IDA	25327288
GO:0044754	Component	Autolysosome	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070288	Component	Ferritin complex	IDA	19923220, 20159981
GO:0070288	Component	Ferritin complex	TAS	7492760

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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
FTL-related disorder	Likely pathogenic; Pathogenic	rs398124635	RCV004751214 RCV003398536 RCV004751215	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary hyperferritinemia with congenital cataracts	Pathogenic; Likely pathogenic	rs398124637, rs2122429764, rs398124636, rs2038438612, rs2122436083, rs2122429855, rs2513694164, rs2513696390, rs398124633, rs398124634, rs398124635, rs1555796939, rs398124638, rs398124639, rs398124640, rs397514540, rs1600120873, rs2038438402	RCV000082859 RCV001360710 RCV001779413 RCV003094061 RCV003096106 RCV003041377 RCV002637620 RCV002903025 RCV000017938 RCV000017939 RCV000017940 RCV000017942 RCV000017943 RCV000017944 RCV000817309 RCV000017946 RCV000017948 RCV000017949 RCV005222690 RCV000032783 RCV000802043 RCV001238029	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
L-ferritin deficiency	Likely pathogenic; Pathogenic	rs398124636, rs398124638	RCV002482882 RCV002482883	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
L-FERRITIN DEFICIENCY, AUTOSOMAL RECESSIVE	Pathogenic	rs199869995	RCV000082858	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuroferritinopathy	Likely pathogenic; Pathogenic	rs2122429764, rs2122436225, rs2038438612, rs2122436083, rs2122429855, rs2513694164, rs2513696390, rs398124633, rs398124635, rs398124636, rs398124637, rs398124638, rs104894685, rs1114167274, rs398124640, rs587776840, rs1600120873, rs2038438402	RCV001360710 RCV001775440 RCV003094061 RCV002269810 RCV003041377 RCV002637620 RCV002903025 RCV001061778 RCV001380757 RCV001386171 RCV001036071 RCV000817309 RCV002482883 RCV002513089 RCV000017950 RCV000017951 RCV000017952 RCV000017953 RCV000802043 RCV001238029	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL GANGLIA DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEGENERATIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC HYPERFERRITINEMIA WITHOUT IRON OVERLOAD	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE 0, MUSCLE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERFERRITINEMIA WITH OR WITHOUT CATARACT	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERFERRITINEMIA, HEREDITARY, WITH CONGENITAL CATARACTS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRON METABOLISM DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEGENERATIVE DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONORGANIC PSYCHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOTIC DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
sporadic abdominal aortic aneurysm	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	33597025	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	27804118		★☆☆☆☆ Found in Text Mining only
Anarthria speech disorder	Anarthria Speech Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	9122163	Associate	★☆☆☆☆ Found in Text Mining only
Asthma Occupational	Asthma	Pubtator	20345975	Inhibit	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	16116125	Associate	★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal Ganglia Diseases	LHGDN	12746423		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	28730787		★☆☆☆☆ Found in Text Mining only
Blepharospasm	Blepharospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	28837569	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23969999		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22355776, 22552268	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31432149, 39528670	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	40019403	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	10166558, 10753629, 21907119, 23592921, 28636169		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	15283633, 16518306, 21139976, 24003015, 28636169, 28746593, 36287435, 37569253, 9226182	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	34064225	Stimulate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cavitation of the basal ganglia	Cavitation of the basal ganglia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	16116125, 29186589	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31675755		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37086630	Associate	★☆☆☆☆ Found in Text Mining only
Corneal Opacity	Corneal opacity	Pubtator	37569253	Associate	★☆☆☆☆ Found in Text Mining only
Corticobasal Degeneration	Corticobasal degeneration	Pubtator	40082954	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	CTD_human_DG	18784066		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia Vascular	Vascular dementia	Pubtator	24448401	Associate	★☆☆☆☆ Found in Text Mining only
Depression, Neurotic	Mental Depression	CTD_human_DG	17063146		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	CTD_human_DG	17063146		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Syndrome	Mental Depression	CTD_human_DG	17063146		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	37150518	Inhibit	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Embryonal nuclear cataract (disorder)	Cataract	BEFREE	7669675		★☆☆☆☆ Found in Text Mining only
Embryonal nuclear cataract (disorder)	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endogenous depression	Mental Depression	CTD_human_DG	17063146		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	33176591	Associate	★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	30391537		★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Genetic hyperferritinemia without iron overload	Genetic Hyperferritinemia Without Iron Overload	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gestational Trophoblastic Disease	Gestational trophoblastic disease	Pubtator	16222695	Associate	★☆☆☆☆ Found in Text Mining only
Gestational Trophoblastic Neoplasms	Gestational Trophoblastic Neoplasms	BEFREE	16222695		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26871431		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	26871431, 37441589	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	28837569	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26871431		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	23029420, 32484805, 33864445, 37441589	Associate	★☆☆☆☆ Found in Text Mining only
Hallervorden-Spatz Syndrome	Pigmentary pallidal degeneration	BEFREE	23212724		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	LHGDN	11783942, 18061976, 18665827		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	BEFREE	17951290, 24003015		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	24003015	Associate	★☆☆☆☆ Found in Text Mining only
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	BEFREE	17951290, 24003015		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	22552268	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	27667161		★☆☆☆☆ Found in Text Mining only
Hereditary hyperferritinemia-cataract syndrome	Hereditary hyperferritinemia with congenital cataracts	Orphanet			★☆☆☆☆ Found in Text Mining only
Heredodegenerative Disorders, Nervous System	Heredodegenerative Disorders, Nervous System	CTD_human_DG	16825958		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	16858508	Associate	★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform Mole	BEFREE	16222695		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform mole	Pubtator	16222695	Associate	★☆☆☆☆ Found in Text Mining only
HYDATIDIFORM MOLE, RECURRENT, 1	Hydatidiform Mole	BEFREE	16222695		★☆☆☆☆ Found in Text Mining only
Hyperferritinemia	Hyperferritinemia	Pubtator	15283633, 16518306, 19176363, 34064225, 37569253	Associate	★☆☆☆☆ Found in Text Mining only
Hyperferritinemia hereditary with congenital cataracts	Hyperferritinemia	Pubtator	15283633, 19176363, 21139976, 21541272, 24003015, 27096259, 28636169, 28746593, 30401656, 34064225, 36287435, 37569253, 7492760, 9226182, 9292547, 9596665	Associate	★☆☆☆☆ Found in Text Mining only
Hyperferritinemia, hereditary, with congenital cataracts	Hereditary hyperferritinemia with congenital cataracts	CLINVAR_DG	10383191, 19800271, 22881709, 2336358, 23421845, 7493028, 9226182, 9414313		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperferritinemia, hereditary, with congenital cataracts	Hereditary hyperferritinemia with congenital cataracts	BEFREE	10753629, 11238302, 16406710, 17579362, 20578964, 21541272, 21907119, 23592921, 24983587, 27096259, 28636169, 29426274, 7492760, 9226182, 9596665		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperferritinemia, hereditary, with congenital cataracts	Hereditary hyperferritinemia with congenital cataracts	ORPHANET_DG	10759702		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperferritinemia, hereditary, with congenital cataracts	Hereditary hyperferritinemia with congenital cataracts	GENOMICS_ENGLAND_DG	11849230, 19176363		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperferritinemia, hereditary, with congenital cataracts	Hereditary hyperferritinemia with congenital cataracts	UNIPROT_DG	19176363		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperferritinemia, hereditary, with congenital cataracts	Hereditary hyperferritinemia with congenital cataracts	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoalphalipoproteinemias	Hypoalphalipoproteinemia	Pubtator	16858508	Associate	★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	16252260		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	15026807	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	35326483	Inhibit	★☆☆☆☆ Found in Text Mining only
Infantile Neuroaxonal Dystrophy	Neuroaxonal Dystrophy	BEFREE	23212724		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	9122163		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	9122163	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Iron Metabolism Disorders	Iron Metabolism Disorders	CTD_human_DG	16822677		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Iron Overload	Iron Overload	LHGDN	15727900		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	18171923, 19176363, 24003015		★☆☆☆☆ Found in Text Mining only
L-FERRITIN DEFICIENCY	L-FERRITIN DEFICIENCY	GENOMICS_ENGLAND_DG	19176363, 23940258		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
L-FERRITIN DEFICIENCY	L-FERRITIN DEFICIENCY	ORPHANET_DG	23940258		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
L-ferritin deficiency	L-FERRITIN DEFICIENCY	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
L-FERRITIN DEFICIENCY	L-FERRITIN DEFICIENCY	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
L-FERRITIN DEFICIENCY	L-FERRITIN DEFICIENCY	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Language Disorders	Language Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Laryngeal dystonia	Laryngeal dystonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	33284559	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	30325535		★☆☆☆☆ Found in Text Mining only
Lingual-Facial-Buccal Dyskinesia	Orofacial dyskinesia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Little`s Disease	Spastic diplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12029631, 17786358, 31432149		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	29576497	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23969999		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28730787, 30610587		★☆☆☆☆ Found in Text Mining only
Melancholia	Melancholia	CTD_human_DG	17063146		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	16252260		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	31442913	Associate	★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	28987816		★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	20159981, 22278127		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	GENOMICS_ENGLAND_DG	24209436		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	32705249	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	16308470	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegeneration with brain iron accumulation (NBIA)	Nephropathy with Pretibial Epidermolysis Bullosa and Deafness	BEFREE	17101456, 20629144, 21286947, 25870938		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	22348978	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	15099026, 18171923, 19923220, 25689865		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroferritinopathy	Neuroferritinopathy	CLINVAR_DG	10383191, 19800271, 22881709, 2336358, 23421845, 7493028, 9226182, 9414313		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuroferritinopathy	Neuroferritinopathy	BEFREE	11438811, 15390032, 15737889, 15835264, 16116125, 16858508, 17101456, 17970701, 18171923, 18755684, 19117339, 19514068, 19923220, 21029774, 21496576, 22278127, 24825732, 25689865, 27753142, 30986045		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuroferritinopathy	Neuroferritinopathy	ORPHANET_DG	16116125		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuroferritinopathy	Neuroferritinopathy	UNIPROT_DG	16116125		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuroferritinopathy	Neuroferritinopathy	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuroferritinopathy	Neuroferritinopathy	GENOMICS_ENGLAND_DG	19176363, 24209436		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuroferritinopathy	Neuroferritinopathy	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	16116125		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonorganic psychosis	Nonorganic Psychosis	PSYGENET_DG	16116125		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nuclear cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nuclear non-senile cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	CTD_human_DG	20882379		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	25224490		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthrosis Deformans	Osteoarthrosis Deformans	CTD_human_DG	18784066		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	17660802, 29771443		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	LHGDN	17660802		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	17660802	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	29771443	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	Pubtator	32705249, 35572557	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	12459518, 17970701, 28987816		★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	16116125	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	16116125		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28730787, 30610587		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	28730787	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28730787	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	16116125		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	PSYGENET_DG	16116125		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychotic disorders	Pubtator	16116125	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Restless Legs Syndrome	Restless Legs Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	9122163		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 17	Spinocerebellar ataxia	Pubtator	16858508	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33864445	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	30655769		★☆☆☆☆ Found in Text Mining only
Subcortical dementia	Subcortical dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	17989163		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	CTD_human_DG	17063146		★☆☆☆☆ Found in Text Mining only
Writer`s Cramp	Writer`s Cramp	HPO_DG			★☆☆☆☆ Found in Text Mining only