HBA2 (hemoglobin subunit alpha 2)

Gene

• Entrez ID: 3040
• Gene name: Hemoglobin subunit alpha 2
• Gene symbol: HBA2
• Synonyms (NCBI Gene): ECYT7, HBA-T2, HBH
• Chromosome: 16
• Chromosome location: 16p13.3
• Summary: The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5`- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3`. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. Thes

Transcription factors

Transcription factor	Regulation	Reference
ATRX	Repression	7697714
GATA1	Unknown	12609092;20564185
KLF4	Activation	20331458

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001664	Function	G protein-coupled receptor binding	IDA	18077343
GO:0004601	Function	Peroxidase activity	IDA	19740759
GO:0005344	Function	Oxygen carrier activity	IBA
GO:0005344	Function	Oxygen carrier activity	IEA
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	1552945, 6683087, 9441940, 9830011, 9894000, 10390349, 10930828, 11159543, 11724557, 12072504, 15550245, 15835899, 16169070, 23123858, 25156257, 25416956, 28665412, 29997244, 30833564, 32296183, 37398436
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	21805676
GO:0005829	Component	Cytosol	TAS
GO:0005833	Component	Hemoglobin complex	IBA
GO:0005833	Component	Hemoglobin complex	IDA	19740759
GO:0005833	Component	Hemoglobin complex	IEA
GO:0005833	Component	Hemoglobin complex	IPI	881729, 9665850, 15449937, 16765986
GO:0005833	Component	Hemoglobin complex	ISS
GO:0005833	Component	Hemoglobin complex	TAS	7555018
GO:0006954	Process	Inflammatory response	IDA	19740759
GO:0015670	Process	Carbon dioxide transport	NAS	881729, 7518430, 11159543, 15449937
GO:0015671	Process	Oxygen transport	IBA
GO:0015671	Process	Oxygen transport	IDA	11159543, 11307949
GO:0015671	Process	Oxygen transport	IEA
GO:0015671	Process	Oxygen transport	IMP	7518430
GO:0015671	Process	Oxygen transport	NAS	881729
GO:0015671	Process	Oxygen transport	TAS	7518430
GO:0016020	Component	Membrane	HDA	19946888
GO:0019825	Function	Oxygen binding	IEA
GO:0020037	Function	Heme binding	IBA
GO:0020037	Function	Heme binding	IEA
GO:0030185	Process	Nitric oxide transport	IDA	8292032
GO:0031720	Function	Haptoglobin binding	IDA	19740759
GO:0031838	Component	Haptoglobin-hemoglobin complex	IBA
GO:0031838	Component	Haptoglobin-hemoglobin complex	IDA	19740759
GO:0042542	Process	Response to hydrogen peroxide	IDA	19740759
GO:0042744	Process	Hydrogen peroxide catabolic process	IDA	19740759
GO:0046872	Function	Metal ion binding	IEA
GO:0048821	Process	Erythrocyte development	IBA
GO:0070062	Component	Extracellular exosome	HDA	20458337, 23533145
GO:0071682	Component	Endocytic vesicle lumen	TAS
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0098869	Process	Cellular oxidant detoxification	IEA

Other IDs

• MIM: 141850
• HGNC: 4824
• e!Ensembl: ENSG00000188536

Interactions View interactions

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
Abnormal hemoglobin	Pathogenic	rs111033606	RCV000016967	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
alpha Thalassemia	Likely pathogenic; Pathogenic	rs281864811, rs281864539, rs281864821, rs780091398, rs886041399, rs2505431550, rs281864889, rs41464951, rs41321345, rs41397847, rs41479844, rs281864834, rs111033603, rs33987053, rs121909803, rs63750067, rs41341344, rs41412046, rs41417548, rs587776827, rs41323248, rs41457746, rs281864819, rs63751457, rs41328049, rs63750678, rs587776828, rs1057519637, rs41474145, rs63751269, rs1270810159, rs63750158, rs281864846, rs63751268, rs281864550, rs1596570041, rs1263969213, rs1902037470	RCV002243538 RCV002272715 RCV003110192 RCV003984350 RCV001275677 RCV004548630 RCV003486522 RCV002250461 RCV005007856 RCV000417220 RCV001078246 RCV001275680 RCV000016929 RCV000016930 RCV001078242 RCV001831575 RCV004700242 RCV001831576 RCV001275682 RCV002051787 RCV001078244 RCV004767010 RCV002482879 RCV000016976 RCV001275678 RCV002051788 RCV001826473 RCV001831577 RCV001826474 RCV004018237 RCV000417216 RCV000417225 RCV000417217 RCV001027962 RCV001829445 RCV003323574 RCV001834638 RCV001275679 RCV000786879 RCV000991152 RCV001078247 RCV001289991	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alpha trait thalassemia	Pathogenic	rs587776826	RCV000016943	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alpha-thalassemia, Dutch type	Pathogenic; Likely pathogenic	rs41457746, rs63751457, rs41328049	RCV000016968 RCV000016977 RCV000016979	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alpha-thalassemia, Hmong type	Pathogenic	rs587776828	RCV000016985	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alpha-thalassemia-2, nondeletional	Likely pathogenic; Pathogenic	rs63750067	RCV000016933	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
beta Thalassemia	Pathogenic; Likely pathogenic	rs41464951, rs63750067, rs63751269	RCV004017255 RCV004017256 RCV004017607	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Erythrocytosis, familial, 7	Pathogenic; Likely pathogenic	rs886041399, rs41321345, rs33983416, rs41397847, rs33985574, rs281864834, rs121909803, rs41361546, rs63750067, rs41417548, rs587776827, rs41457746, rs63750678, rs41474145, rs63751269, rs1270810159, rs63751268, rs281864550, rs1263969213	RCV005016663 RCV005007856 RCV000641309 RCV002476982 RCV000641281 RCV005016273 RCV005016274 RCV000641316 RCV002476983 RCV005007858 RCV002496386 RCV002482879 RCV005007859 RCV005007860 RCV002502452 RCV002502453 RCV005010451 RCV005010452 RCV005010753 RCV005021292	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HBA2-related disorder	Pathogenic	rs41515552	RCV003413793	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Heinz body anemia	Pathogenic; Likely pathogenic	rs2142018005, rs886041399, rs41321345, rs41397847, rs281864834, rs121909803, rs63750067, rs41417548, rs587776827, rs41457746, rs63750678, rs41474145, rs63751269, rs1270810159, rs63751268, rs281864550, rs1263969213	RCV001420424 RCV005016663 RCV005007856 RCV002476982 RCV005016273 RCV005016274 RCV002476983 RCV005007858 RCV002496386 RCV002482879 RCV005007859 RCV005007860 RCV002502452 RCV002502453 RCV005010451 RCV005010452 RCV005010753 RCV005021292	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HEMOGLOBIN AGRINIO	Pathogenic	rs41341344	RCV000016937	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN CLINICO-MADRID	Likely pathogenic	rs587776827	RCV000016954	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN COLUMBIA MISSOURI	Pathogenic	rs33983416	RCV000016895	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN DARTMOUTH	Likely pathogenic; Pathogenic	rs41323248	RCV000016955	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemoglobin H disease	Pathogenic; Likely pathogenic	rs886041399, rs41321345, rs41397847, rs281864834, rs121909803, rs63750067, rs41417548, rs587776827, rs41457746, rs63750678, rs41474145, rs63751269, rs1270810159, rs63751268, rs281864550, rs1263969213	RCV005016663 RCV005007856 RCV002476982 RCV005016273 RCV005016274 RCV002476983 RCV004595884 RCV002496386 RCV002482879 RCV005007859 RCV005007860 RCV002502452 RCV002502453 RCV005010451 RCV005010452 RCV005010753 RCV005021292	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hemoglobin H disease, nondeletional	Pathogenic; Likely pathogenic	rs41464951, rs121909803, rs63750067, rs41341344, rs41412046, rs41417548, rs587776827, rs63750678	RCV000022603 RCV000016931 RCV000022604 RCV000022605 RCV000016938 RCV000022606 RCV000022607 RCV000016983	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HEMOGLOBIN H HYDROPS FETALIS SYNDROME	Likely pathogenic; Pathogenic	rs281864560, rs281864846, rs63750776	RCV002275044 RCV001678588 RCV001678591	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN HANAMAKI	Pathogenic	rs41361546	RCV000016932	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN HASHARON	Likely pathogenic; Pathogenic	rs281864834	RCV000016911	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN ICARIA	Pathogenic	rs41464951	RCV000016893	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN J (BUDA)	Pathogenic	rs33985574	RCV000016900	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN KOYA DORA	Likely pathogenic; Pathogenic	rs41321345	RCV000016894	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN L (FERRARA)	Likely pathogenic; Pathogenic	rs281864834	RCV000016910	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN PLASENCIA	Likely pathogenic; Pathogenic	rs41397847	RCV000016981	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemoglobin Quong Sze	Pathogenic	rs41397847	RCV000016897	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN SALLANCHES	Likely pathogenic; Pathogenic	rs41417548	RCV000016942	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN SEAL ROCK	Likely pathogenic; Pathogenic	rs41464951	RCV000016939	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN SEALY	Likely pathogenic; Pathogenic	rs281864834	RCV000016913	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN SINAI	Likely pathogenic; Pathogenic	rs281864834	RCV000016912	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN SUAN-DOK	Pathogenic	rs41479844	RCV000016899	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN ZURICH ALBISRIEDEN	Likely pathogenic	rs41328049	RCV000016978	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-immune hydrops fetalis	Pathogenic	rs281864846	RCV001376060	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thalassemia	Pathogenic	rs281864829	RCV005240695	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALPHA THALASSEMIA SPECTRUM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT SECONDARY POLYCYTHEMIA	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETA-THALASSEMIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHLORACNE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN AL-HAMMADI RIYADH	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN ANAMOSA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN ANTANANARIVO	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BART'S FETALIS SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BARTS HYDROPS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BIRMINGHAM (USA)	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BOGHE	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BOYLE HEIGHTS	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN CAMPINAS	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN CHARTRES	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN CONAKRY	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN D (BALTIMORE)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN D (ST. LOUIS)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN D (WASHINGTON)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN DAVENPORT	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN DECINES-CHARPIEU	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN EVANS	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN FUKUI	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN G (AZAKUOLI)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN G (BRISTOL)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN G (CHINESE)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN G (HONG KONG)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN G (HONOLULU)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN G (KNOXVILLE)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN G (PHILADELPHIA)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN G (SINGAPORE)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN GERLAND	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN H CONSTANT SPRING THALASSEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN I	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN I (BURLINGTON)	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN I (INTERLAKEN)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN I (PHILADELPHIA)	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN I (SKAMANIA)	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN I (TEXAS)	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN INKSTER	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (OXFORD)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (SARDEGNA)	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN KNOXVILLE-1	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN KURDISTAN	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN KUROSAKI	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN LOMBARD	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN M DISEASE	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MANAWATU	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MANITOBA	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MONTGOMERY	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN N (COSENZA)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN NATAL	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN NIKAIA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN NORTON	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN PARK RIDGE	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN PART-DIEU	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN PASSY	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN RAMPA	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SAN ANTONIO	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SPANISH TOWN	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN STANLEYVILLE-I	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SUN PRAIRIE	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN TARRANT	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN TOULON	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemoglobin Val de Marne	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN WATTS	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN WAYNE	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROPS FETALIS, NON-IMMUNE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHEMOGLOBINEMIA, ALPHA TYPE	—	ClinGen, Disgenet ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRIPLE GENE DEFECT ALPHA THALASSEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNSTABLE HEMOGLOBIN DISEASE	—	CTD, ClinGen, Disgenet CTD, ClinGen, Disgenet	★★☆☆☆ 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	1732019, 2233727, 6929406, 9753066		★☆☆☆☆ Found in Text Mining only
alpha Thalassemia	Alpha thalassemia	Pubtator	10910890, 10954762, 11074535, 1276470, 14576055, 16103716, 16753851, 1701260, 17076879, 1715793, 17296578, 17606454, 18166800, 1824266, 18534068, 18691171, 1932755, 19794088, 20190015, 21180887, 21345100, 21551967, 21708285, 22086797, 23614625, 23810501, 24074530, 2417644, 2458145, 24627726, 25730315, 26316481, 26377141, 26824843, 27077761, 27077764, 27173219, 282616, 2827816, 28395746, 28506685, 28901454, 2917193, 29318647, 29590102, 2986746, 2988669, 31001551, 31060505, 31478238, 32482310, 32751969, 32881938, 32901995, 32986258, 33211225, 33484530, 34247821, 34791962, 35100090, 35916627, 35945425, 3597771, 3620699, 36618297, 36768900, 3680504, 36898140, 36902239, 3703675, 37796611, 37816374, 38059617, 39263910, 39530711, 40447697, 4044827, 447845, 479366, 507051, 508946, 6136971, 6255436, 6313095, 6490612, 6725554, 6826718, 6840536, 6894931, 6946451, 7440717, 8193372, 8813088, 9544971, 9692395	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
alpha Thalassemia	Alpha thalassemia	Pubtator	25116001, 30425067, 32041645, 33247606	Inhibit	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alpha thalassemia intermedia	alpha Thalassemia	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Alpha trait thalassemia	alpha Thalassemia	BEFREE	10634824, 18534068, 23955447, 3236367		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alpha trait thalassemia	alpha Thalassemia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
alpha-Thalassemia	alpha Thalassemia	BEFREE	10050709, 10206681, 10232687, 10691858, 10711926, 10807536, 10954762, 11042028, 11074535, 11122156, 11844995, 11960579, 12109851, 12542500, 12614224, 12730694, 12890155, 1351037, 1459573, 14747442, 15358626, 15359601, 15365991, 16042697, 16103716, 16284800, 16684395, 16939488, 16951927, 1701260, 17076879, 1715793, 17598130, 18026953, 18391781, 18534068, 18554871, 19048483, 19187279, 1932755, 19551634, 1975428, 19794088, 20332613, 20363165, 20645100, 20678137, 20682466, 20691621, 21075279, 21114907, 21345100, 21534938, 22374170, 2265255, 22924376, 23138098, 23289742, 2339704, 2339705, 23491071, 2364173, 23810501, 24018802, 24074398, 2420172, 2431731, 2441597, 24930900, 24979558, 25116001, 25450870, 2607583, 26474154, 26593158, 2672962, 27077764, 27271331, 2811717, 2831226, 28342932, 2839974, 2857363, 28887661, 2891296, 29409695, 29749692, 2989152, 2995233, 30129219, 3020489, 3024968, 3031681, 30489691, 31060505, 3169739, 3219294, 3597771, 3609256, 3680504, 3703675, 3755350, 3797101, 447845, 455460, 479366, 508945, 6089487, 6091047, 6094337, 6142152, 6202089, 6245373, 6246995, 6272319, 6305442, 6490612, 6548185, 6639890, 6722353, 6725554, 6745942, 6791434, 6826718, 6894931, 6946451, 7092444, 7093530, 7151175, 7250116, 7703040, 7947237, 8136277, 8193372, 8205005, 8213764, 8280608, 8707307, 8781443, 8943885, 9371533, 9692395		★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	CLINVAR_DG	12393486, 17164653, 20507641, 2298455, 4944483, 6725554, 7327587		★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	LHGDN	12730694, 16103716, 17920577		★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	CTD_human_DG	15182556, 16798638		★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	GENOMICS_ENGLAND_DG	2050764, 26757782		★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type	alpha-Thalassemia Mental Retardation Syndrome	BEFREE	17598130		★☆☆☆☆ Found in Text Mining only
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type	alpha-Thalassemia Mental Retardation Syndrome	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Alpha-Thalassemia Myelodysplasia Syndrome	Alpha-thalassemia myelodysplasia syndrome	BEFREE	14576055, 3031681		★☆☆☆☆ Found in Text Mining only
ALPHA-THALASSEMIA, HMONG TYPE	alpha Thalassemia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	alpha-Thalassemia Mental Retardation Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
alpha^+^ Thalassemia	alpha Thalassemia	BEFREE	10050709, 10206681, 10232687, 10506456, 10691858, 10711926, 10807536, 11042028, 11074535, 11122156, 11844995, 11853188, 11960579, 12109851, 12185510, 12542500, 12614224, 12730694, 12890155, 1351037, 1459573, 14747442, 15358626, 15359601, 15365991, 1581238, 16042697, 16284800, 16684395, 16939488, 16951927, 1701260, 17076879, 1715793, 17598130, 18026953, 18391781, 18534068, 18554871, 19048483, 19187279, 1932755, 19551634, 1975428, 19794088, 20332613, 20363165, 20645100, 21075279, 21114907, 21534938, 22374170, 2265255, 22924376, 23138098, 23289742, 2339704, 2339705, 23491071, 2364173, 23810501, 24018802, 24074398, 2420172, 2431731, 2441597, 24930900, 24979558, 25116001, 25450870, 2607583, 26474154, 26593158, 2672962, 27077764, 27271331, 2811717, 28342932, 2839974, 2857363, 2878871, 2882671, 28887661, 2896623, 29409695, 29749692, 2989152, 2995233, 30129219, 3020489, 3024968, 3025076, 3031616, 31060505, 3169739, 3219294, 3597771, 3609256, 3680504, 3703675, 3755350, 3797101, 447845, 479366, 508945, 6089487, 6091047, 6094337, 6142152, 6202089, 6245373, 6272319, 6288819, 6305442, 6548185, 6639890, 6704328, 6722353, 6725554, 6745942, 6791434, 6826718, 6894931, 6946451, 7092444, 7093530, 7151175, 7250116, 7437345, 7440717, 7554366, 7703040, 7947237, 8136277, 8193372, 8205005, 8213764, 8280608, 8611658, 8707307, 8943885, 9692395		★☆☆☆☆ Found in Text Mining only
alpha^+^ Thalassemia	alpha Thalassemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	10779423, 11122156, 11445869, 12730694, 16304357, 16684395, 19591816, 20507641, 20712788, 21142933, 21345100, 24589264, 24795345, 2607583, 27271331, 30425067, 3189303, 3417869, 3593645, 447845, 6196966, 8943886, 9371533		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	Pubtator	11891810, 16304357, 19349619, 21797707, 25307880, 32720864, 33827577, 34764282, 35289581, 37678999, 39530711	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia Aplastic	Aplastic anemia	Pubtator	16103716	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	31406232	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic Congenital	Hemolytic anemia	Pubtator	37697358	Associate	★☆☆☆☆ Found in Text Mining only
Anemia hypochromic microcytic	Hypochromic microcytic anemia	Pubtator	12542500, 31478238, 37098594	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Iron Deficiency	Iron deficiency anemia	Pubtator	35354866	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	17606453, 19346141, 23406172, 2417644, 24395608, 24716903, 26044545, 28276593, 2827816, 29318647, 31478238, 3167204, 33247606, 34334003, 35319015, 36939273, 38626234, 6244018, 6317863, 6690472, 6826718, 6895707, 7531513, 8611658, 9034293, 9886305	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	BEFREE	3169739, 7942784		★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	11080057, 1493914, 17182433, 17593033, 19346141, 21910753, 22461654, 2431731, 2441597, 25042611, 26044545, 26593158, 27981643, 29127676, 29590102, 6690472, 6722353, 7531513, 7708766, 8178798, 8916973, 9074425, 9120504		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	LHGDN	12673836		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	10331503, 10473880, 10634824, 10691857, 10779423, 11445869, 11694246, 11844995, 11976733, 1309671, 1349739, 1398286, 14715623, 15359601, 15645468, 15742609, 1581238, 15947092, 16019463, 1643026, 16684395, 16704446, 16753851, 16785121, 17145605, 17194662, 1720325, 1725229, 17874450, 17916081, 17920577, 18026953, 18249014, 18486569, 18556409, 18603555, 18665832, 18768527, 19233839, 19346141, 19591816, 19609526, 19678601, 19734421, 19794088, 19843387, 2001456, 20066573, 20363165, 21732929, 21734726, 21861712, 22659060, 23138098, 23222244, 2333910, 2346726, 23491071, 23525874, 23852782, 24074530, 24829204, 25869286, 25935548, 26086873, 26372049, 26456238, 26583619, 26695885, 2672962, 28643346, 28651846, 28871148, 2903765, 29138844, 2917193, 29309373, 30151892, 30489691, 31300739, 31705350, 3355794, 3401592, 3593644, 3593648, 3783623, 3975223, 416639, 465353, 6176937, 6288819, 6289863, 6307432, 6313095, 6716419, 6820119, 698126, 7093530, 7104238, 7703040, 7794779, 8199027, 8205005, 8484391, 8943886, 9827907		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
beta Thalassemia	Beta thalassemia	Pubtator	10331503, 10398311, 10606872, 11074535, 12192002, 1271422, 12752111, 1362099, 14531920, 14715623, 15645468, 15947092, 16304356, 16304357, 16704446, 16753851, 1698102, 18643855, 19794088, 19843387, 1995096, 20181291, 20712788, 21403433, 21732929, 21821711, 21980356, 22889518, 23852782, 2409283, 2409284, 24351118, 24395608, 2440502, 2456798, 2458145, 24754789, 24829204, 26377036, 27077761, 27080228, 2713503, 28143837, 28383138, 28643346, 28667000, 28958966, 29049312, 2920214, 31124576, 31300739, 31406232, 32394645, 32751969, 32770585, 32798645, 33827577, 33879818, 33940155, 35255977, 35354866, 35563395, 35839944, 36980829, 37015769, 37159832, 37339583, 37740604, 3783623, 37894732, 38059617, 39445566, 40004059, 40121643, 5032531, 6210198, 6305442, 6313095, 6716419, 71735, 7682618, 7693766, 8294880, 8980256, 9209003, 9531618, 9731073	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
beta Thalassemia	beta Thalassemia	LHGDN	12673836, 17920577		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
beta Thalassemia	beta Thalassemia	CTD_human_DG	17292142		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
beta Thalassemia	Beta thalassemia	Pubtator	21114907, 9723583	Stimulate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Beta Thalassemia Dominant Inclusion Body Type	Beta thalassemia	Pubtator	10554822, 3401599	Associate	★☆☆☆☆ Found in Text Mining only
Beta thalassemia intermedia	beta Thalassemia	BEFREE	10334122, 11445869, 1380206, 15947092, 16803575, 18249014, 22771911, 2291577, 23872310, 31300739, 416639, 465353, 6305827, 7104238, 7703040		★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	10331503, 10473880, 10634824, 10691857, 10779423, 11445869, 11694246, 11844995, 11976733, 1309671, 1349739, 1398286, 14715623, 15359601, 15645468, 15742609, 1581238, 15947092, 16019463, 1643026, 16684395, 16704446, 16753851, 16785121, 17145605, 17194662, 1720325, 1725229, 17874450, 17916081, 17920577, 18026953, 18249014, 18486569, 18556409, 18603555, 18665832, 18768527, 19233839, 19346141, 19591816, 19609526, 19678601, 19734421, 19794088, 19843387, 2001456, 20066573, 20363165, 21732929, 21734726, 21861712, 22659060, 23138098, 23222244, 2333910, 2346726, 23491071, 23525874, 23852782, 24074530, 24829204, 25869286, 25935548, 26086873, 26372049, 26456238, 26583619, 26695885, 2672962, 28643346, 28651846, 28871148, 2903765, 29138844, 2917193, 29309373, 30489691, 31300739, 31705350, 3355794, 3401592, 3593644, 3593648, 3783623, 3975223, 416639, 465353, 6176937, 6288819, 6289863, 6307432, 6313095, 6716419, 6820119, 698126, 7093530, 7104238, 7703040, 7794779, 8199027, 8205005, 8484391, 8943886, 9827907		★☆☆☆☆ Found in Text Mining only
beta^0^ Thalassemia	beta Thalassemia	BEFREE	10398311, 10554822, 11445869, 14587045, 17222202, 1725229, 17339197, 17894837, 18026953, 2012764, 20353593, 22962223, 23222244, 2456798, 25218786, 2580774, 26303193, 2767680, 29668441, 3189303, 3219294, 4005180, 6191017, 6299325, 6820119, 7682618, 8199028, 8943886, 923569		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	28694195		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	24642708	Stimulate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	26935297		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	35052472, 36769209	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29590102, 8178798		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	27981643		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholecystolithiasis	Pubtator	32751969	Associate	★☆☆☆☆ Found in Text Mining only
Chronic hemolytic anemia	Hemolytic anemia	BEFREE	31493379		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Contiguous gene syndrome	Contiguous gene syndrome	BEFREE	17598130		★☆☆☆☆ Found in Text Mining only
Cooley`s anemia	Cooley`s Anemia	CTD_human_DG	17292142		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	28694195		★☆☆☆☆ Found in Text Mining only
Creutzfeldt-Jakob Disease, Sporadic	Creutzfeldt-Jakob disease	BEFREE	26836195		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	12584532		★☆☆☆☆ Found in Text Mining only
Deficiency of glucose-6-phosphate dehydrogenase	Deficiency Of Glucose-6-Phosphate Dehydrogenase	BEFREE	29318647		★☆☆☆☆ Found in Text Mining only
Delta-Beta Thalassemia	Delta-Beta Thalassemia	BEFREE	1520881, 1720325, 2458154, 2982369, 6179097, 6323412		★☆☆☆☆ Found in Text Mining only
delta-Thalassemia	Delta-Thalassemia	BEFREE	1309671, 1349739, 1742490, 6292847, 8205005, 9101295		★☆☆☆☆ Found in Text Mining only
delta^0^ Thalassemia	Delta-Thalassemia	BEFREE	6323412		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	15813858	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	19536309, 20849900		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	19536309		★☆☆☆☆ Found in Text Mining only
Dominant beta-thalassemia	beta Thalassemia	BEFREE	10554822		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	33596700	Associate	★☆☆☆☆ Found in Text Mining only
ERYTHROCYTOSIS, FAMILIAL, 7	Erythrocytosis	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Erythroid hyperplasia	Erythroid hyperplasia	BEFREE	8431522		★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	10691858, 12542500, 12614224, 16042697, 16409302, 16512835, 16939488, 17018682, 18554871, 27271331, 31060505, 34155213, 36140670, 37311778, 38626234, 507051, 7205903, 7250116	Associate	★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	11122156	Inhibit	★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gangliosidosis GM1	Gm1 gangliosidosis	Pubtator	1698102	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	BEFREE	3183051		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease 0 Muscle	Glycogen storage disease	Pubtator	10554822	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	28007020	Associate	★☆☆☆☆ Found in Text Mining only
Hb Bart`s hydrops fetalis	Hemoglobin Barts hydrops	Orphanet			★☆☆☆☆ Found in Text Mining only
Hb H disease	Hemoglobin H disease	BEFREE	10973135, 11122156, 11551109, 17018682, 20516677, 20580289, 24074530, 24081251, 25309906, 25450870, 2892939, 3169739, 3797101, 455460, 479366, 6094337, 6317863, 6826718, 8110877, 8140856, 8611658		★☆☆☆☆ Found in Text Mining only
Hb H disease	Hemoglobin H disease	GENOMICS_ENGLAND_DG	26757782		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	24642708	Associate	★☆☆☆☆ Found in Text Mining only
Heinz Body Anemias	Anemia	GENOMICS_ENGLAND_DG	2050764		★☆☆☆☆ Found in Text Mining only
Heinz Body Anemias	Anemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Heinz Body Anemias	Anemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Heinz Body Anemias	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	15359601		★☆☆☆☆ Found in Text Mining only
Hemoglobin C Disease	Hemoglobin c disease	Pubtator	16019464, 23368878	Associate	★☆☆☆☆ Found in Text Mining only
Hemoglobin C Disease	Hemoglobin c disease	Pubtator	25515688	Stimulate	★☆☆☆☆ Found in Text Mining only
Hemoglobin E disease	Hemoglobin E Disease	BEFREE	18026953		★☆☆☆☆ Found in Text Mining only
Hemoglobin E/beta thalassemia disease	Thalassemia	BEFREE	25869286		★☆☆☆☆ Found in Text Mining only
Hemoglobin F Disease	Hemoglobinopathy	CTD_human_DG	17292142		★☆☆☆☆ Found in Text Mining only
Hemoglobin F Disease	Hemoglobinopathy	BEFREE	2472351, 2982369, 31044540, 6179097, 6196196, 661890		★☆☆☆☆ Found in Text Mining only
Hemoglobin H Disease	Hemoglobin H Disease	BEFREE	10954762, 11694246, 12542500, 1414154, 16103716, 19390853, 20691621, 21345100, 23668236, 23955447, 26460264, 27271331, 2831226, 28337528, 2857363, 2891296, 29346671, 3031681, 3620699, 3826056, 427029, 447845, 508945, 508947, 6246995, 6490612, 6704328, 6881169, 6894931, 6929717, 8781443, 9856674		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hemoglobin H Disease	Hemoglobin H Disease	GENOMICS_ENGLAND_DG	2050764, 26757782		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hemoglobin H Disease	Hemoglobin H Disease	ORPHANET_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hemoglobin H disease	Hemoglobin H Disease	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HEMOGLOBIN H DISEASE, NONDELETIONAL	NONDELETIONAL HEMOGLOBIN H DISEASE	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HEMOGLOBIN H HYDROPS FETALIS SYNDROME	HEMOGLOBIN H HYDROPS FETALIS SYNDROME	GENOMICS_ENGLAND_DG	26757782		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemoglobin M Disease	Hemoglobin M Disease	ORPHANET_DG	25031065, 8416301		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemoglobin M disease	Hemoglobin M Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemoglobin SC Disease	Hemoglobin sc disease	Pubtator	32394645	Stimulate	★☆☆☆☆ Found in Text Mining only
Hemoglobinopathies	Hemoglobinopathy	BEFREE	11042028, 12109851, 14757425, 1864819, 19095564, 19591816, 20008178, 20100235, 20190015, 22924376, 23590658, 23872310, 25118159, 25352644, 26593158, 26794457, 27387985, 27461962, 28784617, 30550718, 8484391		★☆☆☆☆ Found in Text Mining only
Hemoglobinopathies	Hemoglobinopathy	Pubtator	16273737, 17722269, 2981252, 34510646, 40053336	Associate	★☆☆☆☆ Found in Text Mining only
Hemolysis	Hemolysis	Pubtator	10554822, 23406172, 24716903, 36980829, 5032531	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	20507315	Associate	★☆☆☆☆ Found in Text Mining only
Hemophilia B	Hemophilia b	Pubtator	36618297	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops fetalis	Pubtator	1055426, 34334003	Associate	★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	BEFREE	11360286, 20507641, 20864413, 22374170, 24074530, 25212678, 25450870, 6158051, 661890, 7550311		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis, Non-Immune	Hydrops Fetalis	GENOMICS_ENGLAND_DG	26757782		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperemia	Hyperemia	Pubtator	33247606	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	35834496	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	24716903	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	24716903		★☆☆☆☆ Found in Text Mining only
Hypochromic anemia	Hypochromic anemia	BEFREE	23138098		★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	21797707	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	17598130		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Iron deficiency anemia	Iron deficiency anemia	BEFREE	23263863, 25043855, 29162392		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	29318368		★☆☆☆☆ Found in Text Mining only
Iron-Refractory Iron Deficiency Anemia	Anemia	BEFREE	31478238, 3797101, 8094943		★☆☆☆☆ Found in Text Mining only
Iron-Refractory Iron Deficiency Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	34706968	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	9753066		★☆☆☆☆ Found in Text Mining only
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative	Myeloid Leukemia	BEFREE	2456661		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	Pubtator	21150000	Associate	★☆☆☆☆ Found in Text Mining only
MELORHEOSTOSIS, ISOLATED	Melorheostosis	BEFREE	2117325, 3470293, 6929406, 7524502, 8628660		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	17598130		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcytic hypochromic anemia (disorder)	Anemia	BEFREE	12542500, 14555321, 22324317, 28887661, 31478238, 8431522		★☆☆☆☆ Found in Text Mining only
Microcytic hypochromic anemia (disorder)	Anemia	GENOMICS_ENGLAND_DG	2050764		★☆☆☆☆ Found in Text Mining only
Microcytic hypochromic anemia (disorder)	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	16939488		★☆☆☆☆ Found in Text Mining only
Mucolipidosis II Alpha Beta	Mucolipidosis	Pubtator	28007020	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	16504146	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	14576055, 3031681, 6136971		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	3031681		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	24642708	Stimulate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	24642708	Stimulate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	28694195		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	28694195		★☆☆☆☆ Found in Text Mining only
Nonspherocytic hemolytic anemia	Hemolytic Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasias	Pubtator	33059634	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	31663278		★☆☆☆☆ Found in Text Mining only
Pericarditis	Pericarditis	HPO_DG			★☆☆☆☆ Found in Text Mining only
POLYCYSTIC KIDNEY DISEASE 1	Polycystic kidney disease	BEFREE	1349580, 1978860, 2347584		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	1642263		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	Pubtator	2443703, 2821260, 3008903	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	1349580, 1360045, 2443701, 2443703, 2767679, 2821260, 2898665, 2924430, 2995836, 3008903, 3610154		★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	Pubtator	35052472	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	28694195		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	10232687		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	19536309		★☆☆☆☆ Found in Text Mining only
Rubinstein-Taybi Syndrome	Rubinstein-Taybi Syndrome	BEFREE	28694195		★☆☆☆☆ Found in Text Mining only
Sicca Syndrome	Sjogren`s Syndrome	BEFREE	4005180, 8435425		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sweet Syndrome	Sweet Syndrome	BEFREE	4005180, 8435425		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	4005180, 8435425		★☆☆☆☆ Found in Text Mining only
Thalassemia	Thalassemia	Pubtator	10398311, 16019464, 16273737, 22460946, 27077761, 2713511, 28135306, 28945175, 31399060, 32048804, 33827577, 34251753, 34495151, 35289581, 35563395, 35792184, 3620699, 36618297, 3680504, 36861191, 36902239, 37098594, 38059617, 38284449, 39263910, 6490612, 6933479, 6946451, 8980256	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thalassemia	Thalassemia	Pubtator	30808594	Inhibit	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thalassemia Intermedia	Thalassemia	BEFREE	11074535, 11694246, 1643026, 16753851, 17222202, 1725229, 17606453, 18249014, 18991646, 19794088, 19941736, 2346726, 26343893, 2903765, 29749692, 30489691, 3207629, 3593644, 6313095, 6716419, 8943886, 9020368		★☆☆☆☆ Found in Text Mining only
Thalassemia Intermedia	Thalassemia	CTD_human_DG	17292142		★☆☆☆☆ Found in Text Mining only
Thalassemia Minor	Thalassemia	CTD_human_DG	17292142		★☆☆☆☆ Found in Text Mining only
Thalassemia Minor	Thalassemia	BEFREE	18665832, 26992783, 28827396, 3593644		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	37408475	Associate	★☆☆☆☆ Found in Text Mining only
TUBEROUS SCLEROSIS 2 (disorder)	Tuberous Sclerosis	BEFREE	8661056		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	23349856	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	22958163		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	33247606	Associate	★☆☆☆☆ Found in Text Mining only