Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	3039
Gene name	Hemoglobin subunit alpha 1
Gene symbol	HBA1
Synonyms (NCBI Gene)	ECYT7HBA-T3HBHMETHBA
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

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miRTarBase ID	miRNA	Experiments	Reference
MIRT1041439	hsa-miR-4272	CLIP-seq
MIRT1041440	hsa-miR-4787-5p	CLIP-seq

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

Show/Hide all (39)

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

MIM	HGNC	e!Ensembl
141800	4823	ENSG00000206172

Interactions View interactions

268

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)

Show/Hide Causal Diseases (29)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
alpha Thalassemia	Pathogenic; Likely pathogenic	rs1201093320, rs1181505507, rs1298047912, rs281864535, rs281864571, rs34220980, rs758093235, rs1316527998, rs63749948, rs28928878, rs63751150, rs35993655, rs35672478, rs770988111, rs1455943416 View all (11 more)	RCV005012985 RCV001810036 RCV001506974 RCV002482328 RCV005021811 View all (22 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alpha-thalassemia, Dutch type	Pathogenic; Likely pathogenic	rs2505437265, rs1902161681	RCV000017226 RCV000017225	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Erythrocytosis, familial, 7	Pathogenic; Likely pathogenic	rs1201093320, rs1181505507, rs281864535, rs281864571, rs34220980, rs758093235, rs33991779, rs33935328, rs35239527, rs33978134, rs33991910, rs63749948, rs63750950, rs281864828, rs28928878 View all (13 more)	RCV005012985 RCV004820880 RCV002482328 RCV005021811 RCV005021812 View all (25 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HBA1-related disorder	Likely pathogenic; Pathogenic	rs767911847, rs34883113, rs63750751	RCV003413547 RCV003918611 RCV004756152	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Heinz body anemia	Pathogenic; Likely pathogenic	rs1201093320, rs281864535, rs281864571, rs34220980, rs758093235, rs63749948, rs34635364, rs28928878, rs63751150, rs35993655, rs1455943416, rs63750090, rs33964317, rs1377412693, rs767911847 View all (4 more)	RCV005012985 RCV002482328 RCV005021811 RCV005021812 RCV005021869 View all (14 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HEMOGLOBIN ADANA	Pathogenic	rs28928878	RCV000017194	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN AGHIA SOPHIA	Pathogenic	rs35672478	RCV000017221	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN CHESAPEAKE	Pathogenic	rs33991779	RCV000017005	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN ETHIOPIA	Pathogenic	rs35723200	RCV000017202	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemoglobin H disease	Pathogenic; Likely pathogenic	rs1201093320, rs281864535, rs281864571, rs34220980, rs758093235, rs63749948, rs28928878, rs63751150, rs35993655, rs1455943416, rs63750090, rs33964317, rs1377412693, rs767911847, rs1596573477, rs34883113, rs1596573335, rs63750751 View all (3 more)	RCV005012985 RCV002482328 RCV005021811 RCV005021812 RCV005021869 View all (13 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hemoglobin H disease, nondeletional	Pathogenic	rs28928878, rs35672478	RCV000022600 RCV000022601	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN J (CAPE TOWN)	Pathogenic	rs33991779	RCV000017062	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN KANAGAWA	Pathogenic	rs281864828	RCV000017189	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN LEGNANO	Pathogenic	rs33935328	RCV000017093	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN LOIRE	Pathogenic	rs35239527	RCV000017096	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN M (IWATE)	Pathogenic	rs28928876	RCV000017103	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN M (KANKAKEE)	Pathogenic	rs28928876	RCV000017104	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN M (OLDENBURG)	Pathogenic	rs28928876	RCV000017105	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN M (SENDAI)	Pathogenic	rs28928876	RCV000017106	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN MILLEDGEVILLE	Likely pathogenic	rs33978134	RCV000017114	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN NUNOBIKI	Pathogenic	rs33991910	RCV000017126	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN PETAH TIKVA	Likely pathogenic	rs63749948	RCV000017140	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN ROUEN	Pathogenic	rs35723200	RCV000017201	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN SASSARI	Pathogenic	rs63750950	RCV000017148	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN SURESNES	Pathogenic	rs33935328	RCV000017164	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN TAYBE	Pathogenic	rs63751150	RCV000017204	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN TOYAMA	Pathogenic	rs34635364	RCV000017171	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN TUNIS-BIZERTE	Likely pathogenic	rs35993655	RCV000017211	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Methemoglobinemia, alpha type	Pathogenic; Likely pathogenic	rs1201093320, rs281864535, rs281864571, rs34220980, rs758093235, rs28928876, rs63749948, rs28928878, rs63751150, rs35993655, rs1455943416, rs63750090, rs33964317, rs1377412693, rs767911847 View all (4 more)	RCV005012985 RCV002482328 RCV005021811 RCV005021812 RCV005021869 View all (14 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (239)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALPHA THALASSEMIA SPECTRUM	—	GenCC	★★★★★ ★★☆☆☆ 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
CARCINOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL INFARCTION	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHLORACNE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN AICHI	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN AIDA	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN AL-AIN ABU DHABI	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN ALBANY-GEORGIA	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN ALBANY-SUMA	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN ANANTHARAJ	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN ANN ARBOR	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN ARYA	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN ASABARA	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN ATAGO	other; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN ATTLEBORO	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN AUCKLAND	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN AZTEC	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BARI	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 BEIJING	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BEILINSON	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BELLIARD	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BEZIERS	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BOIS GUILLAUME	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BOURMEDES	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BROUSSAIS	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BUFFALO	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BUGINESE-X	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN CAEN	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN CAPA	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN CATONSVILLE	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN CEMENELUM	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN CHAD	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN CHAPEL HILL	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN CHAROLLES	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN CHIAPAS	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN CHICAGO	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN CHONGQING	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN CONTALDO	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN CORDELE	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN DAGESTAN	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN DANESHGAH-TEHRAN	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN DELFZICHT	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN DENMARK HILL	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN DIE	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN DOUALA	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN DUAN	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN DUNN	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN ETOBICOKE	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN EVANSTON	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F (KOELLIKER)	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN FERNDOWN	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN FONTAINEBLEAU	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN FORT DE FRANCE	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN FORT WORTH	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN FUCHU-I	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN FUCHU-II	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN FUKUTOMI	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN G (AUDHALI)	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN G (FORT WORTH)	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN G (GEORGIA)	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN G (NORFOLK)	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN G (PEST)	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN G (TAICHUNG)	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN G (WAIMANALO)	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN GARDEN STATE	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN GODAVARI	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN GOTHENBURG	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN GOUDA	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN GUANGZHOU	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN GUIZHOU	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN H CONSTANT SPRING THALASSEMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN HANDA	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN HANDSWORTH	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN HANGZHOU	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN HARBIN	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN HEKINAN	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN HIKOSHIMA	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN HIROSAKI	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN HOBART	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN HOPKINS 2	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ 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 (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 IWATA	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (ABIDJAN)	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (ALJEZUR)	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (ANATOLIA)	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (BIRMINGHAM)	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (BISKRA)	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (BROUSSAIS)	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (CAMAGUEY)	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (CUBUJUQUI)	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (HABANA)	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (MEDELLIN)	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (MEERUT)	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (MEXICO)	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (NORFOLK)	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (NYANZA)	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (PARIS 1)	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (PARIS 2)	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (PONTOISE)	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (RAJAPPEN)	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (ROVIGO)	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (SINGA)	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (TASHIKUERGAN)	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (TONGARIKI)	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (TORONTO)	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (WENCHANG-WUMING)	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN JACKSON	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN KAGOSHIMA	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN KARACHI	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN KARIYA	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN KAWACHI	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN KOELLIKER	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN KOKURA	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN KURASHIKI	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN L (GASLINI)	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN L (PERSIAN GULF)	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN LAMEN ISLAND	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN LE LAMENTIN	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN LILLE	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN LISBON	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN LUTON	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN LUXEMBOURG	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN M (BOSTON)	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN M (GOTHENBURG)	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN M (KISKUNHALAS)	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN M (OSAKA)	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN M DISEASE	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MAHIDOL	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MALHACEN	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MANTES-LA-JOLIE	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MATSUE-OKI	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MELUSINE	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MEMPHIS	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MEXICO	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MICHIGAN-I	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MICHIGAN-II	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MIYANO	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MIZUSHI	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MOABIT	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MONTEFIORE	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MOSELLA	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MUGINO	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MUNAKATA	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN NECKER ENFANTS-MALADES	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN NIGERIA	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN NISHIK	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN NOKO	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN NORFOLK	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN NOUAKCHOTT	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN O (BUGINESE-X)	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN O (INDONESIA)	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN O (OLIVIERE)	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN O (PADOVA)	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN OEGSTGEEST	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN OGI	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN OITA	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN OLEANDER	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN OLIVIERE	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN OTTAWA	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN OWARI	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN OZIERI	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN PAVIE	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN PERSPOLIS	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN POITIERS	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN PONTOISE	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN PORT HURON	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN PORT PHILLIP	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN Q	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN Q (INDIA)	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN Q (IRAN)	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN Q (THAILAND)	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN QUEENS	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN QUESTEMBERT	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN RAMONA	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN REIMS	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN RICCARTON	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN ROANNE	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN ROUBAIX	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN RUSS	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SARATOGA SPRINGS	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SAWARA	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SERBIA	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SETIF	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SHAARE ZEDEK	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SHENYANG	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SHIMONOSEKI	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SHUANGFENG	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SIAM	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SINGAPORE	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN ST. CLAUDE	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN ST. LUKE'S	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN STANLEYVILLE-II	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN STRUMICA	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SUNSHINE SETH	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SWAN RIVER	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN TAGAWA I	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN TAGAWA II	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN TAMANO	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN TATRAS	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN THAILAND	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN THIONVILLE	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN TITUSVILLE	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN TOKONAME	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN TOKYO	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN TONOSHO	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN TORINO	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN TOTTORI	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN TURRIFF	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN TWIN PEAKS	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN UBE-2	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN UBE-4	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN UMI	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN UPPSALA	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN UTSUNOMIYA	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN VILLEURBANNE	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN WINNIPEG	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN WOODVILLE	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN WUMING	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN YUDA	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN YUKUHASHI-2	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN ZAMBIA	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHEMOGLOBINEMIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHEMOGLOBINEMIA, ALPHA-GLOBIN TYPE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYTHEMIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYTHEMIA VERA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thalassemia	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
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

Show/Hide Text Mining Associations (176)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	1732019, 2233727, 6929406, 9753066		★★★★★ ★☆☆☆☆ Found in Text Mining only
alpha Thalassemia	Alpha thalassemia	Pubtator	14576055, 16103716, 17296578, 18166800, 18691171, 23614625, 24627726, 25024506, 26316481, 26824843, 27173219, 27665672, 28901454, 32482310, 32751969 View all (9 more)	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
alpha Thalassemia	Alpha thalassemia	Pubtator	21345100	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		★★★★★ ★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	BEFREE	10050709, 10206681, 10232687, 10691858, 10711926, 10807536, 10954762, 11042028, 11074535, 11122156, 11844995, 11960579, 12109851, 12542500, 12614224 View all (116 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	CTD_human_DG	16798638		★★★★★ ★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	GENOMICS_ENGLAND_DG	2050764, 23794144		★★★★★ ★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	CLINVAR_DG			★★★★★ ★☆☆☆☆ 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-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 View all (118 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	10404591	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	12376462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	10779423, 11122156, 11445869, 12730694, 16304357, 16684395, 19591816, 20712788, 21142933, 21345100, 24589264, 24795345, 2607583, 30425067, 3189303, 3417869, 3593645, 447845, 8943886 View all (4 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	Pubtator	19349619, 2214342, 34764282, 37548329, 39530711	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia Hemolytic	Hemolytic anemia	Pubtator	18691171, 32199931	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, 27624280	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	18691171, 23406172, 26316481, 34334003, 36939273, 38626234, 39252479	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, 17593033, 19346141, 21910753, 22461654, 2431731, 2441597, 26044545, 26593158, 27981643, 29127676, 29590102, 6690472, 7531513 View all (5 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	LHGDN	12673836		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	37146352	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	10473880, 10634824, 10779423, 11445869, 11694246, 11844995, 1349739, 1398286, 14715623, 15359601, 1581238, 15947092, 16019463, 16684395, 16704446 View all (55 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	LHGDN	11833853, 12673836		★★★★★ ★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	12176917, 12353305, 1698102, 19794088, 21114907, 2214342, 24351118, 27080228, 2713503, 27173219, 28901454, 29049312, 33940155, 34708592, 38059617, 39252479, 8012089, 8980256 View all (3 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Beta thalassemia intermedia	beta Thalassemia	BEFREE	10334122, 11445869, 15947092, 16803575, 18249014, 22771911, 2291577, 23872310, 31300739, 6305827		★★★★★ ★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	10473880, 10634824, 10779423, 11445869, 11694246, 11844995, 1349739, 1398286, 14715623, 15359601, 1581238, 15947092, 16019463, 16684395, 16704446 View all (55 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
beta^0^ Thalassemia	beta Thalassemia	BEFREE	10398311, 10554822, 11445869, 14587045, 17222202, 1725229, 17339197, 17894837, 18026953, 20353593, 22962223, 2313782, 25218786, 2580774, 26303193 View all (10 more)		★★★★★ ★☆☆☆☆ 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
Carcinogenesis	Carcinogenesis	Pubtator	36346805	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	CTD_human_DG	12376462		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36346805	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	12376462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	34334003	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	28500252, 35052472, 36769209	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	17351274		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	CTD_human_DG	1634355		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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
Clubfoot	Clubfoot	Pubtator	35292718	Associate	★★★★★ ★☆☆☆☆ 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
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, 6345593		★★★★★ ★☆☆☆☆ 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, 2458154, 2982369, 6179097, 6323412		★★★★★ ★☆☆☆☆ Found in Text Mining only
delta-Thalassemia	Delta-Thalassemia	BEFREE	1309671, 1742490, 6292847		★★★★★ ★☆☆☆☆ Found in Text Mining only
delta^0^ Thalassemia	Delta-Thalassemia	BEFREE	6323412		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	10741565, 1991571, 29407525, 29474501, 8422779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10741565, 1991571, 29407525, 29474501, 31431836, 8422779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	1832354, 19536309, 20849900, 9165226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	16632892		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	19536309, 2060414, 29232697, 7657029, 8261646, 8732493		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Angiopathies	Diabetic angiopathies	Pubtator	35163309	Associate	★★★★★ ★☆☆☆☆ 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
Erythrocytosis familial, 1	Erythrocytosis	GENOMICS_ENGLAND_DG	15921161		★★★★★ ★☆☆☆☆ 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	12542500, 23614625, 7490322, 8707958	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	21931690	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	21931690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	BEFREE	3183051		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease XII	Glycogen storage disease	Pubtator	33887194	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 View all (6 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hb H disease	Hemoglobin H disease	GENOMICS_ENGLAND_DG	23794144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	24642708	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	28500252, 37798313	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heinz Body Anemias	Anemia	GENOMICS_ENGLAND_DG	2050764		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heinz Body Anemias	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heinz Body Anemias	Anemia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heinz Body Anemias	Anemia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	15359601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemoglobin Bart`s hydrops syndrome	Hemoglobin Bart`s Hydrops Syndrome	GENOMICS_ENGLAND_DG	23794144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemoglobin C Disease	Hemoglobin c disease	Pubtator	23368878	Associate	★★★★★ ★☆☆☆☆ 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	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, 2831226, 28337528, 2857363, 2891296 View all (15 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hemoglobin H Disease	Hemoglobin H Disease	GENOMICS_ENGLAND_DG	2050764, 23794144		★★★★★ ★★★★★ 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	23794144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemoglobin M Disease	Hemoglobin M Disease	ORPHANET_DG	3026948, 8416301		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemoglobin M disease	Hemoglobin M Disease	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemoglobinopathies	Hemoglobinopathy	BEFREE	11042028, 12109851, 14757425, 1864819, 19591816, 20008178, 20100235, 20190015, 22924376, 23590658, 23872310, 25118159, 25352644, 26593158, 27461962, 30550718 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemoglobinopathies	Hemoglobinopathy	Pubtator	34510646, 39312720, 40053336	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemolysis	Hemolysis	Pubtator	23406172, 24716903, 26813021, 35163309	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ 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	Pubtator	34334003	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis, Non-Immune	Hydrops Fetalis	GENOMICS_ENGLAND_DG	23794144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	Pubtator	32860378	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	2060414		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	35163309	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
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	28500252	Associate	★★★★★ ★☆☆☆☆ 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
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		★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron-Refractory Iron Deficiency Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	10328465, 29108337		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	9753066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	36117408	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative	Myeloid Leukemia	BEFREE	2456661		★★★★★ ★☆☆☆☆ 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
Metabolic Diseases	Metabolic syndrome	Pubtator	35240786	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	29319419		★★★★★ ★☆☆☆☆ Found in Text Mining only
Methemoglobinemia	Methemoglobinemia	CTD_human_DG	3026948		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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	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
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	14576055, 3031681, 6136971		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	14576055	Associate	★★★★★ ★☆☆☆☆ 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	BEFREE	24642708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	24642708	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonspherocytic hemolytic anemia	Hemolytic Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	31663278		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	33061329	Associate	★★★★★ ★☆☆☆☆ 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, Autosomal Dominant	Polycystic kidney disease	BEFREE	1349580, 1360045, 2443701, 2443703, 2767679, 2821260, 2898665, 2924430, 2995836, 3008903, 3610154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	CTD_human_DG	1634355		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycythemia	Polycythemia	Pubtator	35052472	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycythemia Vera	Polycythemia Vera	CTD_human_DG	1634355		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17938644		★★★★★ ★☆☆☆☆ 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	8435425		★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35659682	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Subcortical Infarction	Brain Infarction	CTD_human_DG	1634355		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sweet Syndrome	Sweet Syndrome	BEFREE	8435425		★★★★★ ★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	8435425		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thalassemia	Thalassemia	Pubtator	10398311, 28945175, 34708592, 35701592, 36861191, 37548329, 38059617, 8980256	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thalassemia Intermedia	Thalassemia	BEFREE	11074535, 11694246, 16753851, 17222202, 1725229, 18249014, 18991646, 19794088, 19941736, 2346726, 26343893, 2903765, 29749692, 30489691, 3207629 View all (5 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thalassemia Minor	Thalassemia	BEFREE	28827396, 3593644		★★★★★ ★☆☆☆☆ Found in Text Mining only
TUBEROUS SCLEROSIS 2 (disorder)	Tuberous Sclerosis	BEFREE	8661056		★★★★★ ★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	12376462		★★★★★ ★☆☆☆☆ 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	24486321	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	35163309	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

HBA1 (hemoglobin subunit alpha 1)