TFR2 (transferrin receptor 2)

Gene

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

SNPs

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004998	Function	Transferrin receptor activity	IDA	18353247
GO:0004998	Function	Transferrin receptor activity	IEA
GO:0004998	Function	Transferrin receptor activity	NAS	10409623
GO:0005515	Function	Protein binding	IPI	18353247, 22728873, 25635054, 29388418, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IGI	18353247
GO:0005886	Component	Plasma membrane	NAS	10409623
GO:0005886	Component	Plasma membrane	TAS
GO:0006826	Process	Iron ion transport	NAS	10409623
GO:0006879	Process	Intracellular iron ion homeostasis	IDA	18353247
GO:0006879	Process	Intracellular iron ion homeostasis	TAS	15319276
GO:0006898	Process	Receptor-mediated endocytosis	IEA
GO:0006898	Process	Receptor-mediated endocytosis	IGI	18353247
GO:0009897	Component	External side of plasma membrane	IBA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009897	Component	External side of plasma membrane	IGI	18353247
GO:0010039	Process	Response to iron ion	IMP	21173098
GO:0016020	Component	Membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IDA	12704209
GO:0033572	Process	Transferrin transport	IDA	18353247
GO:0033572	Process	Transferrin transport	IEA
GO:0033572	Process	Transferrin transport	IGI	18353247
GO:0039706	Function	Co-receptor binding	IPI	22728873
GO:0045807	Process	Positive regulation of endocytosis	IGI	18353247
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	25635054
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IEA
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IEA
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IMP	21173098
GO:0071281	Process	Cellular response to iron ion	IGI	18353247
GO:0090277	Process	Positive regulation of peptide hormone secretion	IMP	21173098
GO:0140298	Process	Endocytic iron import into cell	IBA
GO:0140298	Process	Endocytic iron import into cell	IGI	18353247
GO:1903319	Process	Positive regulation of protein maturation	IGI	18353247
GO:1990712	Component	HFE-transferrin receptor complex	IDA	12704209, 22728873
GO:1990712	Component	HFE-transferrin receptor complex	IEA

Other IDs

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

Protein

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

  Pfam

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

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

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

• Sequence length: 801

Pathways

KEGG:

TGF-beta signaling pathway

Reactome:

Transferrin endocytosis and recycling

Associated diseases

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
Hemochromatosis type 1	Likely pathogenic; Pathogenic	rs946552921	RCV000987937	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemochromatosis type 3	Likely pathogenic; Pathogenic	rs2131312371, rs756989018, rs777027788, rs1562837561, rs1398396879, rs763292953, rs868823304, rs2131312223, rs1463281712, rs1803699632, rs2131328001, rs781427471, rs786204108, rs1803510959, rs931476373, rs2486128874, rs2131313576, rs80338880, rs80338877, rs80338879, rs80338889, rs2486147926, rs2131311231, rs2486116981, rs2486134386, rs2486128952, rs779594895, rs2486147890, rs2486115109, rs2486118586, rs774862156, rs2486102241, rs2486114662, rs1803445521, rs2486133745, rs2486148819, rs2486117732, rs2486118857, rs2486146890, rs2486147617, rs2486102603, rs1803693127, rs1803359971, rs2486117269, rs1803324863, rs2486114850, rs1224612016, rs2486146809, rs556553563, rs2486147571, rs2486123194, rs1320849993, rs2486129744, rs2486133638, rs2486133805, rs2486123093, rs80338882, rs80338883, rs80338888, rs80338891, rs80338878, rs773050231, rs1220336558, rs750609759, rs772104483, rs1051249273, rs946552921, rs768907730, rs1562837669, rs1405776096, rs1803297757, rs1422733588, rs1803502704, rs1803316071, rs1803096138, rs765525417	RCV003473897 RCV005040242 RCV003473958 RCV003473987 RCV003473971 RCV003473996 RCV003473959 RCV001785060 RCV003475193 RCV003475145 RCV004571645 RCV003475159 RCV001831985 RCV003475501 RCV003475516 RCV003475527 RCV003475403 RCV000005711 RCV000005712 RCV000005713 RCV000005715 RCV003475423 RCV003139229 RCV003132883 RCV003474062 RCV003474063 RCV003474064 RCV003474065 RCV003474066 RCV003474068 RCV003474069 RCV003474070 RCV003474071 RCV003474072 RCV003474073 RCV003474074 RCV003474075 RCV003474076 RCV003474077 RCV003474078 RCV003474079 RCV003474080 RCV003474081 RCV003474082 RCV003474083 RCV003474084 RCV005040541 RCV004573717 RCV004573718 RCV004573719 RCV004573720 RCV004573721 RCV004573722 RCV004573723 RCV004573724 RCV004573725 RCV004573726 RCV004573727 RCV000020534 RCV000020535 RCV000020543 RCV000020547 RCV000020548 RCV003476250 RCV003472250 RCV003472202 RCV005431893 RCV000779521 RCV003473533 RCV001827421 RCV003473667 RCV003473623 RCV003473683 RCV005047258 RCV001250718 RCV001250719 RCV003473763 RCV003473807	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary hemochromatosis	Likely pathogenic; Pathogenic	rs1562845204, rs2131304244, rs2131312371, rs1803316195, rs2131318652, rs756989018, rs777027788, rs1562837561, rs1188426077, rs1803309728, rs1398396879, rs763292953, rs868823304, rs2131313564, rs1324815806, rs1463281712, rs1584459683, rs1803699632, rs1478674823, rs2131320006, rs2131320223, rs2131328001, rs2131327975, rs2131320933, rs2131318647, rs1411667989, rs2131320942, rs781427471, rs2131327564, rs786204108, rs1803510959, rs1803363753, rs931476373, rs2486128874, rs2131313576, rs2486148789, rs80338877, rs1389208146, rs1034968542, rs2486147926, rs776441721, rs774862156, rs2486147898, rs2486126656, rs2486102360, rs2486147622, rs1414730937, rs1803693127, rs1803324863, rs2486146751, rs2486134236, rs2486114991, rs762648897, rs2486129782, rs2486117611, rs2486133665, rs2486131876, rs2486147767, rs1020301245, rs147286030, rs2486114892, rs2486120240, rs1803700065, rs2486133707, rs2486147588, rs2486133812, rs2486114850, rs2486147879, rs773320398, rs753747243, rs780902940, rs2486117181, rs80338882, rs80338888, rs80338891, rs80338878, rs773050231, rs1426704853, rs1220336558, rs750609759, rs1562838535, rs772104483, rs1051249273, rs1388444100, rs1584460907, rs946552921, rs768907730, rs1562837669, rs1405776096, rs1803297757, rs749211542, rs1422733588, rs1803411479, rs1803096138, rs1803418157, rs765525417	RCV001379277 RCV001377637 RCV001376871 RCV001377806 RCV001378951 RCV001379150 RCV001385287 RCV001388574 RCV001386233 RCV001387375 RCV001386715 RCV001390139 RCV001385290 RCV003752072 RCV002002104 RCV001967760 RCV001994589 RCV001898123 RCV001938609 RCV001975864 RCV001925261 RCV001940897 RCV001899385 RCV001924337 RCV002011622 RCV001941550 RCV002000942 RCV001903601 RCV001888051 RCV000168040 RCV003051332 RCV003074867 RCV002637506 RCV003118146 RCV002630749 RCV002766353 RCV001381389 RCV002750888 RCV002820228 RCV002806718 RCV002842569 RCV002863094 RCV002880402 RCV003007471 RCV003017294 RCV003040231 RCV003027763 RCV005100232 RCV003750975 RCV003589630 RCV003589784 RCV003588932 RCV003589962 RCV003589343 RCV003588484 RCV003589410 RCV003590266 RCV003751079 RCV003750996 RCV003751237 RCV003751815 RCV003751811 RCV003751750 RCV003752169 RCV003752112 RCV003752352 RCV003750415 RCV003832884 RCV003864170 RCV003854524 RCV003873330 RCV003879508 RCV003875081 RCV003877390 RCV001237605 RCV001390238 RCV001219293 RCV001851971 RCV000551640 RCV000527640 RCV000706048 RCV000691270 RCV000705183 RCV000700023 RCV000812711 RCV000807770 RCV000813654 RCV001068810 RCV001065051 RCV001059109 RCV001041067 RCV001062633 RCV001035774 RCV001055157 RCV001048748 RCV001214976 RCV001218623 RCV001234936	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs1320849993	RCV005939490	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TFR2-related disorder	Pathogenic	rs1051249273	RCV003411720	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETA THALASSEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETA-THALASSEMIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGENIC HEMOCHROMATOSIS	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemochromatosis, type 1, modifier of	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 3	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary hemochromatosis type 4	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary hemochromatosis type 5	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	11675342		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	15863206		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	15863206		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	15863206		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	21422745, 24648608		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	16540354, 19047682, 22323359		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	29434729		★☆☆☆☆ Found in Text Mining only
Arthralgia	Arthralgia	Pubtator	28276324	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	15319290	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	19386095		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	31936202	Associate	★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	16755567		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
beta Thalassemia	beta Thalassemia	CTD_human_DG	16755567		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
beta Thalassemia	Beta thalassemia	Pubtator	35355750	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Beta thalassemia intermedia	beta Thalassemia	BEFREE	25425686		★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	16755567		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	11675342, 17956864, 19828835, 20576915	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	34258619	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	23751596		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	15863206		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	18621559		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32375704	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	15319290		★☆☆☆☆ Found in Text Mining only
Cooley`s anemia	Cooley`s Anemia	CTD_human_DG	16755567		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	23751596		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	23751596		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	23751596		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	40527798	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	15319290	Associate	★☆☆☆☆ Found in Text Mining only
Dysautonomia Familial	Dysautonomia	Pubtator	28276324	Associate	★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Erythroid hyperplasia	Erythroid hyperplasia	BEFREE	11675342		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	25000850		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	24556216		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25891893		★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	24648608		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	15319290		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	15319290	Associate	★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	BEFREE	10802645, 11005792, 11027676, 11358388, 11358390, 11551099, 11778658, 11886477, 12064925, 12547237, 12681966, 15084147, 15317665, 15319276, 15486069, 15737887, 15749661, 16103673, 16132052, 16234038, 16424658, 16923517, 16932966, 17098454, 17124037, 17886335, 17951290, 18245657, 18430498, 19907151, 20863724, 21173098, 21770687, 21862411, 24321703, 25352340, 26596411, 27031690, 28276324		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemochromatosis	Hemochromatosis	Pubtator	11313241, 12091366, 12130528, 12406888, 15084147, 15147384, 15317665, 15319290, 15486069, 15521925, 16838333, 17202145, 17847004, 17956864, 18245657, 19759876, 19819738, 21173098, 21770687, 23556518, 25152992, 25352340, 25635054, 26633544, 26799139, 28276324, 29388418, 29743178, 33787609, 34048062, 34583728, 34946929, 35355750	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemochromatosis	Hemochromatosis	LHGDN	12134060, 15486069, 15749661		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemochromatosis	Hemochromatosis	CTD_human_DG	16935854, 17241880, 21411349, 22383097		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemochromatosis type 2	Hemochromatosis	Pubtator	15147384	Associate	★☆☆☆☆ Found in Text Mining only
Hemochromatosis type 3	Hemochromatosis	Pubtator	11313241, 17298224, 19144662	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hemochromatosis type 3	Hemochromatosis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	BEFREE	11027676, 11358388, 11358390, 11551099, 11778658, 12064925, 12382200, 12547237, 12681966, 15317665, 15319276, 15486069, 15749661, 16103673, 16234038, 16424658, 16923517, 16932966, 17098454, 17124037, 17886335, 17951290, 18245657, 18430498, 20863724, 21173098, 21770687, 21862411, 24321703, 25352340, 27031690, 27896572		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 3	Hemochromatosis	BEFREE	11313241, 11984516, 12382200, 12401307, 12547237, 17298224, 17562347, 18430498, 19144662, 24321703, 28540293		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 3	Hemochromatosis	UNIPROT_DG	11313241, 12130528, 14633868		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 3	Hemochromatosis	GENOMICS_ENGLAND_DG	11313241, 27604308, 29985876		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 3	Hemochromatosis	ORPHANET_DG	26029709		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 3	Hemochromatosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 3	Hemochromatosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 4	Hemochromatosis	BEFREE	18430498, 24321703, 25064704		★☆☆☆☆ Found in Text Mining only
Hemoglobin F Disease	Hemoglobinopathy	CTD_human_DG	16755567		★☆☆☆☆ Found in Text Mining only
Hemoglobin H Disease	Hemoglobin H Disease	BEFREE	12667993		★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	37632052	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	10681454, 11358390, 11673399, 12130528, 12406888, 12542741, 15319290, 15685557, 15842597, 16893896, 16923517, 17729390, 17847004, 17956864, 18094142, 19759876, 21864651, 22408404, 22960056, 24055163, 25425686, 26142323, 27896572, 28276324, 28335084, 29388418, 29743178, 29897731		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary hemochromatosis	Hereditary Hemochromatosis	CTD_human_DG	16935854, 17241880, 21411349, 22383097		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary hemochromatosis	Hereditary Hemochromatosis	CLINVAR_DG	23600741, 26029709, 26408288		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HFE-Associated Hereditary Hemochromatosis	Hemochromatosis	BEFREE	12382200, 18094142		★☆☆☆☆ Found in Text Mining only
Hyperferritinemia	Hyperferritinemia	Pubtator	34828384	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	37480032	Associate	★☆☆☆☆ Found in Text Mining only
Iron deficiency anemia	Iron deficiency anemia	BEFREE	22323359		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	10681454, 11313241, 11358388, 11358389, 11358390, 11673399, 11886477, 12130528, 12382200, 12547237, 12667993, 12681966, 14633868, 15020277, 15147384, 15319276, 16103673, 16424658, 16424663, 16493621, 16540354, 16923517, 17042772, 17098454, 18094142, 18245657, 20471131, 20542038, 21862411, 23751596, 24055163, 28276324, 29434729, 29897731, 29969719		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	11313241, 12130528, 15147384, 16838333, 17202145, 18245657, 19819738, 20027482, 21770687, 23556518, 25635054, 25637053, 26633544, 26799139, 34048062, 35355750	Associate	★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	LHGDN	12130528		★☆☆☆☆ Found in Text Mining only
Iron-Refractory Iron Deficiency Anemia	Anemia	BEFREE	25425686		★☆☆☆☆ Found in Text Mining only
Juvenile hemochromatosis	Hemochromatosis	BEFREE	11005792, 11778658, 12915468, 17124037		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	11675342		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	12921947, 15015967, 15863206		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11675342, 14512884, 18541040, 19387685, 20576915, 30811632		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	15319290, 24556216		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	15319290	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	11675342, 14512884, 20576915		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	24648608	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17428703		★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	32199022	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	22890139		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	24121126	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	35682458	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	11675342		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	11675342		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30811632		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	31698611	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	24648608	Associate	★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type 3	Osteogenesis imperfecta	Pubtator	29388418	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	21672570, 24055409, 24121126		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	24121126	Associate	★☆☆☆☆ Found in Text Mining only
Porphyria Cutanea Tarda	Porphyria cutanea tarda	Pubtator	17298224	Associate	★☆☆☆☆ Found in Text Mining only
Porphyria Cutanea Tarda	Porphyria Cutanea Tarda	BEFREE	18565178		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25080433	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32705773	Associate	★☆☆☆☆ Found in Text Mining only
Thalassemia Intermedia	Thalassemia	CTD_human_DG	16755567		★☆☆☆☆ Found in Text Mining only
Thalassemia Minor	Thalassemia	CTD_human_DG	16755567		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	37361050	Associate	★☆☆☆☆ Found in Text Mining only