HJV (hemojuvelin BMP co-receptor)

Gene

• Entrez ID: 148738
• Gene name: Hemojuvelin BMP co-receptor
• Gene symbol: HJV
• Synonyms (NCBI Gene): HFE2, HFE2A, JH, RGMC
• Chromosome: 1
• Chromosome location: 1q21.1
• Summary: The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Two uORFs in

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28940586	A>C,G	Likely-pathogenic, pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, missense variant
rs74315323	C>A	Pathogenic	Missense variant, coding sequence variant
rs74315325	A>T	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs74315326	A>G	Pathogenic	Missense variant, coding sequence variant
rs74315327	A>G	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant, intron variant
rs121434374	G>C,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs121434375	T>A	Pathogenic	5 prime UTR variant, intron variant, stop gained, coding sequence variant
rs786205063	AGAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1553769428	C>A	Pathogenic	Stop gained, coding sequence variant
rs1553769457	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553769663	T>A,C	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant
rs1553769758	C>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant, 5 prime UTR variant
rs1559279177	G>-	Pathogenic	Frameshift variant, coding sequence variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0005102	Function	Signaling receptor binding	IPI	18326817, 18335997
GO:0005515	Function	Protein binding	IPI	18335997, 18976966, 19357398, 22728873, 25938661, 32296183
GO:0005615	Component	Extracellular space	IDA	17938254, 25156943
GO:0005615	Component	Extracellular space	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	16075058, 17938254
GO:0005886	Component	Plasma membrane	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	ISS
GO:0009986	Component	Cell surface	IEA
GO:0015026	Function	Coreceptor activity	IBA
GO:0015026	Function	Coreceptor activity	IDA	16604073
GO:0015026	Function	Coreceptor activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016540	Process	Protein autoprocessing	IMP	18335997
GO:0030509	Process	BMP signaling pathway	IBA
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030509	Process	BMP signaling pathway	IGI	18326817
GO:0030509	Process	BMP signaling pathway	IMP	16604073
GO:0030514	Process	Negative regulation of BMP signaling pathway	IEA
GO:0032924	Process	Activin receptor signaling pathway	IGI	18326817
GO:0036122	Function	BMP binding	IEA
GO:0036122	Function	BMP binding	IPI	18335997
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	16604073, 18326817
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IDA	16075058
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IEA
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IGI	16075058
GO:0070724	Component	BMP receptor complex	IDA	16604073
GO:0071773	Process	Cellular response to BMP stimulus	IMP	16604073
GO:0098552	Component	Side of membrane	IEA
GO:0098797	Component	Plasma membrane protein complex	IDA	18335997
GO:0098821	Function	BMP receptor activity	IDA	16604073
GO:1990459	Function	Transferrin receptor binding	IPI	22728873
GO:1990712	Component	HFE-transferrin receptor complex	IDA	22728873

Other IDs

• MIM: 608374
• HGNC: 4887
• e!Ensembl: ENSG00000168509

Protein

• UniProt ID: Q6ZVN8
• Protein name: Hemojuvelin (Hemochromatosis type 2 protein) (Hemojuvelin BMP coreceptor) (RGM domain family member C)
• Protein function: Acts as a bone morphogenetic protein (BMP) coreceptor (PubMed:18976966). Through enhancement of BMP signaling regulates hepcidin (HAMP) expression and regulates iron homeostasis (PubMed:18976966).
• PDB: 4UI1, 6Z3L
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06535	RGM_N	37 → 226	Repulsive guidance molecule (RGM) N-terminus	Family
  PF06534	RGM_C	230 → 389	Repulsive guidance molecule (RGM) C-terminus	Family

• Tissue specificity: TISSUE SPECIFICITY: Adult and fetal liver, heart, and skeletal muscle. {ECO:0000269|PubMed:14647275}.
• Sequence:

  MGEPGQSPSPRSSHGSPPTLSTLTLLLLLCGHAHSQCKILRCNAEYVSSTLSLRGGGSSG
  ALRGGGGGGRGGGVGSGGLCRALRSYALCTRRTARTCRGDLAFHSAVHGIEDLMIQHNCS
  RQGPTAPPPPRGPALPGAGSGLPAPDPCDYEGRFSRLHGRPPGFLHCASFGDPHVRSFHH
  HFHTCRVQGAWPLLDNDFLFVQATSSPMALGANATATRKLTIIFKNMQECIDQKVYQAEV
  DNLPVAFEDGSINGGDRPGGSSLSIQTANPGNHVEIQAAYIGTTIIIRQTAGQLSFSIKV
  AEDVAMAFSAEQDLQLCVGGCPPSQRLSRSERNRRGAITIDTARRLCKEGLPVEDAYFHS
  CVFDVLISGDPNFTVAAQAALEDARAFLPDLEKLHLFPSDAGVPLSSATLLAPLLSGLFV
  LWLCIQ

• Sequence length: 426

Pathways

KEGG:

TGF-beta signaling pathway

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	Pathogenic	rs74315323, rs121434374	RCV000002462 RCV000002469	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemochromatosis type 2A	Likely pathogenic; Pathogenic	rs782803011, rs1553769745, rs786205063, rs782164742, rs1486905702, rs1652592444, rs1553769690, rs2101986552, rs2101984222, rs2101984042, rs74315323, rs74315324, rs74315326, rs28940586, rs74315327, rs121434374, rs121434375, rs1433104741, rs1652568567, rs1469129426, rs1559280338, rs782590037, rs2525744586, rs1652495294, rs1305404947, rs2525756260, rs1553769428, rs1559279177, rs1553769758, rs1205047449	RCV005038162 RCV005408880 RCV005038211 RCV002265992 RCV005047637 RCV001794942 RCV001794943 RCV005032100 RCV002250395 RCV002271958 RCV000002461 RCV000002463 RCV000002465 RCV000002466 RCV000002467 RCV000002468 RCV000002470 RCV000002471 RCV005616580 RCV003146720 RCV003236365 RCV005616670 RCV005419651 RCV003988130 RCV005624223 RCV005040495 RCV005040550 RCV003994658 RCV000678040 RCV000722103 RCV001825579 RCV001828937	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HJV-related disorder	Pathogenic	rs74315327	RCV003415628	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile hemochromatosis	Pathogenic	rs74315323	RCV004017220	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGENIC HEMOCHROMATOSIS	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS TYPE 2	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 2A	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	31307288		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	20713458	Stimulate	★☆☆☆☆ Found in Text Mining only
Anemia Iron Deficiency	Iron deficiency anemia	Pubtator	20713458	Inhibit	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	19386095		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	16939499	Inhibit	★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	25152992	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	19386095	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21617229		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	21863061	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	34258619	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	LHGDN	15611318, 18725184		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	18725184, 29743178		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	18725184, 20593054, 29743178, 32327622	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	32938653	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	31307288		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	CTD_human_DG	27989131		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Kidney Diseases	Kidney Disease	BEFREE	30741616		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	21626137	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Disease	Coronary artery disease	Pubtator	22130959	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21626137		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	32327622	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	37582372	Associate	★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	28151915		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	28151915	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	34059542	Associate	★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	BEFREE	11005792, 12060140, 15461631, 15466004, 15528154, 15737887, 15875150, 16099526, 16103673, 16932966, 17098454, 17886335, 17951290, 18492090, 19214511, 20533066, 20863724, 21862411, 22924847, 24321703, 24584909, 27031690, 27753142, 30389309		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemochromatosis	Hemochromatosis	LHGDN	14647275, 14982867, 14982873, 15138164, 15315789, 15611318, 15685557, 15710580, 17264300, 17339196, 17768121, 18725184		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemochromatosis	Hemochromatosis	Pubtator	15461631, 15610558, 16103117, 16838333, 17847004, 18725184, 19342478, 20593054, 26238956, 26633544, 28335084, 29743178, 30362946, 30389309, 30746893, 32938653, 34059542, 34583728, 34946929	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemochromatosis	Hemochromatosis	CTD_human_DG	16868025, 17255318, 19252486, 21411349		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemochromatosis type 2	Hemochromatosis	Pubtator	14982867, 14982873, 15138164, 15486069, 15610558, 16103117, 17264300, 17339196, 17768121, 18287331, 18827264, 19342478, 20530805, 25152992, 25666510, 29373985, 30389309, 30746893, 32327622	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemochromatosis type 2	Hemochromatosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemochromatosis type 4	Hemochromatosis	Pubtator	24644245	Associate	★☆☆☆☆ Found in Text Mining only
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	BEFREE	15528154, 15875150, 16099526, 16103673, 16932966, 17098454, 17886335, 17951290, 18492090, 19214511, 20533066, 20863724, 21862411, 22924847, 24321703, 24584909, 27031690, 27753142, 27896572, 30389309		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 2A	Hemochromatosis	UNIPROT_DG	14647275, 14982867, 14982873, 15461631		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 2A	Hemochromatosis	CLINVAR_DG	14647275, 14982873, 15610558, 15811010, 17339196, 19796184		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 2A	Hemochromatosis	GENOMICS_ENGLAND_DG	14982873, 27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 2A	Hemochromatosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	15194541, 15685557, 15842597, 16103117, 18809758, 19234060, 21039223, 21411349, 22408404, 23577916, 25608116, 26142323, 26238956, 27896572, 28335084, 28363629, 28935635, 29134618, 30195625, 30362946, 31286966		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	CTD_human_DG	16868025, 17255318, 19252486, 21411349		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	28130911		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	28130911		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	28151915, 29390526	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28151915, 29390526		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	15315789, 29743178		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	20593054, 30362946, 32327622	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	29743178	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	32327622	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	20713458	Associate	★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	14647275, 15254010, 15461631, 15685557, 15811010, 16075058, 16103673, 17098454, 17264300, 17395503, 17938254, 18492090, 18809758, 19252486, 19287179, 20542038, 21039223, 21411349, 21862411, 22998440, 24584909, 25666510, 28130911, 28935635, 30945556		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	15461631, 15610558, 18827264, 24644245, 25666510, 26633544, 28151915, 34583728	Associate	★☆☆☆☆ Found in Text Mining only
Iron-Refractory Iron Deficiency Anemia	Anemia	BEFREE	20713458, 21618415		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	31307288		★☆☆☆☆ Found in Text Mining only
Juvenile hemochromatosis	Hemochromatosis	BEFREE	11005792, 11778658, 14647275, 14982867, 14982873, 15138164, 15194541, 15315789, 15461631, 15466004, 15486069, 15528154, 15737887, 15811010, 15875150, 15967692, 15997423, 16075058, 16075059, 16099526, 16234038, 16424663, 16493621, 17264300, 17768121, 18725184, 19252486, 19342478, 21411349, 22408404, 22998440, 24321703, 25152992, 25588876, 25666510, 28363629, 30389309, 31472034		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile hemochromatosis	Hemochromatosis	CLINVAR_DG	14647275, 14982867, 14982873, 17339196, 22408404		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile hemochromatosis	Hemochromatosis	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kidney Failure, Acute	Kidney Failure	BEFREE	29386545		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18326817, 21863061, 22998440, 28363629		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	25805936	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	18326817, 22998440		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21617229		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	30389309		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	30884219		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	25699651		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	18469261		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	21311510		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	15997423		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Porphyria Cutanea Tarda	Porphyria Cutanea Tarda	BEFREE	18809758		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	35442992	Associate	★☆☆☆☆ Found in Text Mining only
Secondary hypothyroidism	Hypothyroidism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	29512696		★☆☆☆☆ Found in Text Mining only