HBG2 (hemoglobin subunit gamma 2)

Gene

• Entrez ID: 3048
• Gene name: Hemoglobin subunit gamma 2
• Gene symbol: HBG2
• Synonyms (NCBI Gene): HBG-T1, TNCY
• Chromosome: 11
• Chromosome location: 11p15.4
• Summary: The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In s

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34474104	G>A	Pathogenic	Coding sequence variant, missense variant
rs34809449	G>A,C,T	Pathogenic	Upstream transcript variant
rs34878913	A>G	Pathogenic	Coding sequence variant, missense variant
rs35103459	G>A	Pathogenic	Coding sequence variant, missense variant
rs35617911	G>A,C,T	Pathogenic	Upstream transcript variant
rs63750654	A>G	Pathogenic	Upstream transcript variant
rs587776864	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs1278163109	G>C,T	Pathogenic	Coding sequence variant, missense variant
rs1554922455	->CAGAGG	Likely-pathogenic	Coding sequence variant, inframe insertion

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005344	Function	Oxygen carrier activity	IBA
GO:0005344	Function	Oxygen carrier activity	IDA	19065339
GO:0005344	Function	Oxygen carrier activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005829	Component	Cytosol	TAS
GO:0005833	Component	Hemoglobin complex	IBA
GO:0005833	Component	Hemoglobin complex	IEA
GO:0005833	Component	Hemoglobin complex	IPI	881729, 6683087
GO:0015670	Process	Carbon dioxide transport	NAS	881729, 7543751
GO:0015671	Process	Oxygen transport	IBA
GO:0015671	Process	Oxygen transport	IDA	7543751, 19065339
GO:0015671	Process	Oxygen transport	IEA
GO:0015671	Process	Oxygen transport	NAS	881729
GO:0019825	Function	Oxygen binding	IEA
GO:0020037	Function	Heme binding	IBA
GO:0020037	Function	Heme binding	IEA
GO:0031721	Function	Hemoglobin alpha binding	IBA
GO:0031838	Component	Haptoglobin-hemoglobin complex	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0048821	Process	Erythrocyte development	IBA
GO:0072562	Component	Blood microparticle	HDA	22516433

Other IDs

• MIM: 142250
• HGNC: 4832
• e!Ensembl: ENSG00000196565

Protein

• UniProt ID: P69892
• Protein name: Hemoglobin subunit gamma-2 (Gamma-2-globin) (Hb F Ggamma) (Hemoglobin gamma-2 chain) (Hemoglobin gamma-G chain)
• Protein function: Gamma chains make up the fetal hemoglobin F, in combination with alpha chains.
• PDB: 1FDH, 4MQJ, 4MQK, 7QU4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00042	Globin	8 → 112	Globin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Red blood cells.
• Sequence:

  MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPK
  VKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFG
  KEFTPEVQASWQKMVTGVASALSSRYH

• Sequence length: 147

Pathways

Reactome:

Factors involved in megakaryocyte development and platelet production

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
Cyanosis, transient neonatal	Likely pathogenic; Pathogenic	rs34474104, rs35103459, rs1438114920, rs2494334628, rs587776864, rs1278163109	RCV000016121 RCV000016129 RCV004017187 RCV000022614 RCV000022615 RCV000984481	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary persistence of fetal hemoglobin	Pathogenic	rs35617911, rs63750654, rs34809449, rs866138115	RCV001814960 RCV001814961 RCV001814963 RCV001814964 RCV001814972	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANEMIA, SICKLE CELL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MASTOCYTOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DELTA-BETA THALASSEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (ALBAICIN)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (AUCKLAND)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (AUSTELL)	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (BROOKLYN)	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (CALABRIA)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (CALTECH)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (CARLTON)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (CATALONIA)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (CLAMART)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (CLARKE)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (COLUMBUS-GA)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (COSENZA)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (EMIRATES)	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (FUCHU)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (GRANADA)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (HEATHER)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (KENNESTONE)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (KINGSTON)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (LA GRANGE)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (LESVOS)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (LODZ)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (MACEDONIA II)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (MALAYSIA)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (MALTA)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (MARIETTA)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (MEINOHAMA)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (MELBOURNE)	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (MINOO)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (OAKLAND)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (ONODA)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (OULED RABAH)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (POOLE)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (PORT ROYAL)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (SACROMONTE)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (SHANGHAI)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (TOKYO)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (URUMQI)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (VELETA)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (WAYNESBORO)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBINOPATHY TOMS RIVER	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MASTOCYTOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SECONDARY MALIGNANT NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SICKLE CELL ANEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC MASTOCYTOSIS	—	GWAS catalog	★★☆☆☆ 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	10373600, 1689192, 1709381, 17114178, 1848707, 1993224, 2339058, 2369550, 2445753, 2457030, 29046485, 30257864, 3165297, 3463509, 7828600, 8400240		★☆☆☆☆ Found in Text Mining only
Acute Kidney Insufficiency	Acute Kidney Insufficiency	CTD_human_DG	562503, 851170		★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	7647001		★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	BEFREE	1526026, 16519704, 17488699, 18951049, 24055728, 3332112, 6935689, 7703040, 8193372, 9163586		★☆☆☆☆ Found in Text Mining only
alpha^+^ Thalassemia	alpha Thalassemia	BEFREE	1526026, 16519704, 17488699, 18951049, 24055728, 3332112, 6935689, 7703040, 8193372, 9163586		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	17157413	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	10688844, 20712788, 21390308, 21561349, 26603726, 28190779, 7686036		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	21561349, 22885163	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	23713742	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	18667698, 20602015, 22885163, 25084696, 25263325, 27525524, 27838552, 28280727, 30911135	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	BEFREE	29309293		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	10343888, 10373600, 11743206, 12124399, 1379347, 15040425, 15287957, 15534852, 15537646, 16378095, 16513230, 16607652, 1688883, 17662889, 18667698, 19344402, 19346141, 19474450, 19777196, 20863160, 20932329, 22042865, 23152248, 23416702, 24112139, 24371119, 2441778, 2473801, 25084696, 25300171, 25681747, 2580306, 25931013, 25986606, 2723072, 27525524, 27718361, 27841932, 28115816, 28579187, 28776729, 28971909, 29046485, 29166365, 29255069, 29309293, 29610478, 29884740, 30038942, 30125603, 30216683, 30412705, 30480767, 30504350, 30674214, 30911135, 30952675, 31273412, 31698466, 6248872, 9236157		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Sickle Cell	Anemia	GWASCAT_DG	23406172		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	23361909		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	11559936, 12738678, 12764548, 1384315, 1483699, 16338486, 16513230, 16803575, 16814578, 16939628, 1725229, 17614826, 18951049, 1932755, 19346141, 19777196, 20863160, 22897698, 23233592, 23416702, 24055728, 2458145, 2458154, 2473801, 27525524, 30010219, 31115947, 31789406, 6183586, 6310991, 698126, 7686036, 7703040, 9495372, 9830795, 993355		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	19050890, 22271886, 25480500, 25842369, 27525524, 28280727, 30777047, 30911135, 34091621, 35269949	Associate	★☆☆☆☆ Found in Text Mining only
Beta thalassemia intermedia	beta Thalassemia	BEFREE	12411297, 16803575, 17654503, 22771911, 29474985		★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	12738678, 12764548, 1384315, 1483699, 16338486, 16513230, 16803575, 16814578, 16939628, 17614826, 1932755, 19346141, 19777196, 20863160, 22897698, 23233592, 23416702, 24055728, 2458145, 2473801, 27525524, 30010219, 31115947, 31789406, 6183586, 6310991, 698126, 7686036, 7703040, 9495372, 9830795, 993355		★☆☆☆☆ Found in Text Mining only
beta^0^ Thalassemia	beta Thalassemia	BEFREE	11559936, 2415188, 2423109, 2456521, 3778425, 6327288		★☆☆☆☆ Found in Text Mining only
Chronic lung disease	Lung Diseases	BEFREE	28699887		★☆☆☆☆ Found in Text Mining only
Congenital Bone Marrow Failure Syndromes	Congenital bone marrow failure syndrome	Pubtator	23713742	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Methemoglobinemia	Congenital Methemoglobinemia	BEFREE	4336945		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	28699887		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	28699887		★☆☆☆☆ Found in Text Mining only
Cyanosis	Cyanosis	Pubtator	21561349, 36837579	Associate	★☆☆☆☆ Found in Text Mining only
CYANOSIS, TRANSIENT NEONATAL	Cyanosis	UNIPROT_DG	19065339, 21561349, 24502349, 2470017, 2483933, 7741137		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CYANOSIS, TRANSIENT NEONATAL	Cyanosis	BEFREE	21561349		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CYANOSIS, TRANSIENT NEONATAL	Cyanosis	GENOMICS_ENGLAND_DG	26500940		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CYANOSIS, TRANSIENT NEONATAL	Cyanosis	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CYANOSIS, TRANSIENT NEONATAL	Cyanosis	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deficiency of glucose-6-phosphate dehydrogenase	Deficiency Of Glucose-6-Phosphate Dehydrogenase	BEFREE	7301464		★☆☆☆☆ Found in Text Mining only
Delta-Beta Thalassemia	Delta-Beta Thalassemia	BEFREE	2982369, 6179097, 6196781		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	9576755		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	9576755		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	36339449	Associate	★☆☆☆☆ Found in Text Mining only
Dominant beta-thalassemia	beta Thalassemia	BEFREE	3401599		★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis Congenita	BEFREE	23713742		★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis congenita	Pubtator	23713742	Associate	★☆☆☆☆ Found in Text Mining only
Erythrocytosis familial, 1	Erythrocytosis	BEFREE	5011106		★☆☆☆☆ Found in Text Mining only
Familial erythrocytosis	Erythrocytosis	BEFREE	5011106		★☆☆☆☆ Found in Text Mining only
Familial primary pulmonary hypertension	Pulmonary Hypertension	BEFREE	8617104		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	23713742		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease 0 Muscle	Glycogen storage disease	Pubtator	26771086	Associate	★☆☆☆☆ Found in Text Mining only
Granulomatous Disease, Chronic, X-Linked	Granulomatous Disease	BEFREE	7542684		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	30293223		★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	15287957, 19777196, 28115816, 28135306, 29245041		★☆☆☆☆ Found in Text Mining only
Hemoglobin C Disease	Hemoglobin c disease	Pubtator	33091040	Associate	★☆☆☆☆ Found in Text Mining only
Hemoglobin F Disease	Hemoglobinopathy	BEFREE	11074532, 11285460, 12093744, 1571556, 15944728, 1688466, 1688505, 1689192, 16952470, 17114178, 17183675, 18096417, 2291547, 23337982, 2458313, 2458563, 2467208, 2474800, 2478223, 27525524, 27718361, 29610478, 2982369, 30355263, 3165297, 3601670, 6175332, 6179097, 6196781, 7592674, 7679879, 7686501, 7687430, 9668525		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemoglobin F Disease	Hemoglobinopathy	ORPHANET_DG	19050890, 24144231, 25435729		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemoglobin H Disease	Hemoglobin H Disease	BEFREE	8193372		★☆☆☆☆ Found in Text Mining only
Hemoglobinopathies	Hemoglobinopathy	BEFREE	10575551, 11074532, 11454524, 12393583, 12533814, 1526026, 16292549, 18379999, 20837550, 21075284, 23713742, 24371119, 24589262, 24589264, 26603726, 29389946, 31025160, 7579419		★☆☆☆☆ Found in Text Mining only
Hemoglobinopathies	Hemoglobinopathy	Pubtator	32576837	Associate	★☆☆☆☆ Found in Text Mining only
Hemoglobinopathy Toms River	Hemoglobinopathy Toms River	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary gingival fibromatosis	Hereditary Gingival Fibromatosis	BEFREE	17075716		★☆☆☆☆ Found in Text Mining only
Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome	Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	28912721, 9576755		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	1708327, 26686224		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	26686224		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	1708327, 30621691		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	1708327		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	28190779		★☆☆☆☆ Found in Text Mining only
Intravascular hemolysis	Intravascular Hemolysis	BEFREE	28622911		★☆☆☆☆ Found in Text Mining only
Iron-Refractory Iron Deficiency Anemia	Anemia	BEFREE	31025160		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	16778141, 2456661, 28749240		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	CTD_human_DG	562503, 851170		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	15287957		★☆☆☆☆ Found in Text Mining only
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative	Myeloid Leukemia	BEFREE	2456661		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	19208208		★☆☆☆☆ Found in Text Mining only
MELORHEOSTOSIS, ISOLATED	Melorheostosis	BEFREE	8630419, 9787182		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	26686224		★☆☆☆☆ Found in Text Mining only
Methemoglobinemia	Methemoglobinemia	BEFREE	28259531, 29052278, 31740155		★☆☆☆☆ Found in Text Mining only
Methemoglobinemia	Methemoglobinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	16292549		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	9133617		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	17097070, 7795240		★☆☆☆☆ Found in Text Mining only
NADH cytochrome B5 reductase deficiency	Nadh-Cytochrome B5 Reductase Deficiency	BEFREE	22935660		★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	BEFREE	2816924		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	19208208		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	40140352	Associate	★☆☆☆☆ Found in Text Mining only
Sicca Syndrome	Sjogren`s Syndrome	BEFREE	1673815		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 11	Spinocerebellar ataxia	Pubtator	25084696	Associate	★☆☆☆☆ Found in Text Mining only
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME	Spondylocarpotarsal Synostosis Syndrome	BEFREE	27550467		★☆☆☆☆ Found in Text Mining only
Sweet Syndrome	Sweet Syndrome	BEFREE	1673815		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	1673815		★☆☆☆☆ Found in Text Mining only
Thalassemia	Thalassemia	Pubtator	34690349, 40140352	Associate	★☆☆☆☆ Found in Text Mining only
Thalassemia Intermedia	Thalassemia	BEFREE	1725229, 18951049, 24112139, 30422819, 3207629		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29263092		★☆☆☆☆ Found in Text Mining only