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

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Pathways 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

	KEGG		Reactome
	African trypanosomiasis Malaria		Erythrocytes take up carbon dioxide and release oxygen Erythrocytes take up oxygen and release carbon dioxide Scavenging of heme from plasma

464

Show/Hide Causal Diseases (29)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
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 RCV005021812 RCV005021869 RCV003317778 RCV002482880 RCV001831580 RCV005007861 RCV001276182 RCV001078389 RCV004018218 RCV004018219 RCV004018220 RCV005624646 RCV001078391 RCV001825491 RCV002282356 RCV001078392 RCV002466598 RCV005012434 RCV001027960 RCV001078390 RCV001169875 RCV003331101
Alpha-thalassemia, Dutch type	Pathogenic; Likely pathogenic	rs2505437265, rs1902161681	RCV000017226 RCV000017225
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 RCV003228731 RCV000641142 RCV000641166 RCV000641177 RCV000656378 RCV000641192 RCV000641200 RCV002482880 RCV000641208 RCV000641216 RCV000641239 RCV005016276 RCV000641245 RCV005007861 RCV005016277 RCV005006362 RCV005015117 RCV005018869 RCV005010750 RCV002485969 RCV002505496 RCV002503142 RCV003989617 RCV002489508 RCV005867764
HBA1-related disorder	Likely pathogenic; Pathogenic	rs767911847, rs34883113, rs63750751	RCV003413547 RCV003918611 RCV004756152
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 RCV002482880 RCV000017172 RCV005016276 RCV005007861 RCV005016277 RCV005006362 RCV005015117 RCV005018869 RCV005010750 RCV002485969 RCV002505496 RCV002503142 RCV005012434 RCV002489508
HEMOGLOBIN ADANA	Pathogenic	rs28928878	RCV000017194
HEMOGLOBIN AGHIA SOPHIA	Pathogenic	rs35672478	RCV000017221
HEMOGLOBIN CHESAPEAKE	Pathogenic	rs33991779	RCV000017005
HEMOGLOBIN ETHIOPIA	Pathogenic	rs35723200	RCV000017202
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 RCV002482880 RCV005016276 RCV005007861 RCV005016277 RCV005006362 RCV005015117 RCV005018869 RCV005010750 RCV002485969 RCV002505496 RCV002503142 RCV005012434 RCV002489508
Hemoglobin H disease, nondeletional	Pathogenic	rs28928878, rs35672478	RCV000022600 RCV000022601
HEMOGLOBIN J (CAPE TOWN)	Pathogenic	rs33991779	RCV000017062
HEMOGLOBIN KANAGAWA	Pathogenic	rs281864828	RCV000017189
HEMOGLOBIN LEGNANO	Pathogenic	rs33935328	RCV000017093
HEMOGLOBIN LOIRE	Pathogenic	rs35239527	RCV000017096
HEMOGLOBIN M (IWATE)	Pathogenic	rs28928876	RCV000017103
HEMOGLOBIN M (KANKAKEE)	Pathogenic	rs28928876	RCV000017104
HEMOGLOBIN M (OLDENBURG)	Pathogenic	rs28928876	RCV000017105
HEMOGLOBIN M (SENDAI)	Pathogenic	rs28928876	RCV000017106
HEMOGLOBIN MILLEDGEVILLE	Likely pathogenic	rs33978134	RCV000017114
HEMOGLOBIN NUNOBIKI	Pathogenic	rs33991910	RCV000017126
HEMOGLOBIN PETAH TIKVA	Likely pathogenic	rs63749948	RCV000017140
HEMOGLOBIN ROUEN	Pathogenic	rs35723200	RCV000017201
HEMOGLOBIN SASSARI	Pathogenic	rs63750950	RCV000017148
HEMOGLOBIN SURESNES	Pathogenic	rs33935328	RCV000017164
HEMOGLOBIN TAYBE	Pathogenic	rs63751150	RCV000017204
HEMOGLOBIN TOYAMA	Pathogenic	rs34635364	RCV000017171
HEMOGLOBIN TUNIS-BIZERTE	Likely pathogenic	rs35993655	RCV000017211
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 RCV003313924 RCV002482880 RCV005016276 RCV005007861 RCV005016277 RCV005006362 RCV005015117 RCV005018869 RCV005010750 RCV002485969 RCV002505496 RCV002503142 RCV005012434 RCV002489508

Show/Hide Unknown Diseases (222)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs387906544	-
HEMOGLOBIN AICHI	other	rs33967561	RCV000016986
HEMOGLOBIN AIDA	other	rs33984024	RCV000017035
HEMOGLOBIN AL-AIN ABU DHABI	other	rs35993097	RCV000017195
HEMOGLOBIN ALBANY-GEORGIA	other	rs281860646	RCV000016987
HEMOGLOBIN ALBANY-SUMA	other	rs281860646	RCV000016988
HEMOGLOBIN ANANTHARAJ	other	rs33938574	RCV000016989
HEMOGLOBIN ANN ARBOR	other	rs34071856	RCV000016990
HEMOGLOBIN ARYA	Uncertain significance	rs34269448	RCV000016991
HEMOGLOBIN ASABARA	Conflicting classifications of pathogenicity	rs28928875	RCV000017032
HEMOGLOBIN ATAGO	other; Uncertain significance	rs33915947	RCV000016992
HEMOGLOBIN ATTLEBORO	other	rs34011123	RCV000016993
HEMOGLOBIN AUCKLAND	other	rs28928876	RCV000017239
HEMOGLOBIN AZTEC	other	rs33969953	RCV000016994
HEMOGLOBIN BARI	other	rs281860685	RCV000016995
HEMOGLOBIN BEIJING	other	rs281860648	RCV000016996
HEMOGLOBIN BEILINSON	other	rs33944368	RCV000017084
HEMOGLOBIN BELLIARD	other	rs281860657	RCV000017182
HEMOGLOBIN BEZIERS	other	rs34273731	RCV000017230
HEMOGLOBIN BOIS GUILLAUME	other	rs34733452	RCV000017212
HEMOGLOBIN BOURMEDES	other	rs35776155	RCV000016998
HEMOGLOBIN BROUSSAIS	Likely benign	rs33914470	RCV000016999
HEMOGLOBIN BUFFALO	Conflicting classifications of pathogenicity	rs1061009	RCV000017231
HEMOGLOBIN BUGINESE-X	Conflicting classifications of pathogenicity	rs63749882	RCV000017129
HEMOGLOBIN CAEN	other	rs35166834	RCV000017197
HEMOGLOBIN CAPA	other	rs28928879	RCV000017199
HEMOGLOBIN CATONSVILLE	other	rs34667595	RCV000017002
HEMOGLOBIN CEMENELUM	other	rs34868036	RCV000017205
HEMOGLOBIN CHAD	Uncertain significance	rs33939620	RCV000017003
HEMOGLOBIN CHAPEL HILL	other	rs33921047	RCV000017004
HEMOGLOBIN CHAROLLES	Uncertain significance	rs28928884	RCV000017222
HEMOGLOBIN CHIAPAS	Uncertain significance	rs33910377	RCV000017006
HEMOGLOBIN CHICAGO	other	rs121913127	RCV000017007
HEMOGLOBIN CHONGQING	other	rs36030576	RCV000017008
HEMOGLOBIN CONTALDO	other	rs35329201	RCV000017009
HEMOGLOBIN CORDELE	other	rs33944368	RCV000017010
HEMOGLOBIN DAGESTAN	other	rs34259907	RCV000017011
HEMOGLOBIN DANESHGAH-TEHRAN	other	rs35859529	RCV000017013
HEMOGLOBIN DELFZICHT	other	rs28928885	RCV000017227
HEMOGLOBIN DENMARK HILL	other	rs33984621	RCV000017014
HEMOGLOBIN DIE	other	rs34769782	RCV000017229
HEMOGLOBIN DOUALA	other	rs35850071	RCV000017224
HEMOGLOBIN DUAN	other	rs33991223	RCV000017015
HEMOGLOBIN DUNN	other	rs33961916	RCV000017016
HEMOGLOBIN ETOBICOKE	other	rs33926206	RCV000017017
HEMOGLOBIN EVANSTON	other	rs33964317	RCV002508127
HEMOGLOBIN F (KOELLIKER)	other	rs121913128	RCV000017082
HEMOGLOBIN FERNDOWN	other	rs33986902	RCV000017019
HEMOGLOBIN FONTAINEBLEAU	other	rs34324664	RCV000017020
HEMOGLOBIN FORT DE FRANCE	other	rs28928883	RCV000017021
HEMOGLOBIN FORT WORTH	other	rs33964507	RCV000017024
HEMOGLOBIN FUCHU-I	other	rs36104787	RCV000017215
HEMOGLOBIN FUCHU-II	other	rs41322954	RCV000017216
HEMOGLOBIN FUKUTOMI	other	rs63750467	RCV000017184
HEMOGLOBIN G (AUDHALI)	other	rs33939421	RCV000017022
HEMOGLOBIN G (FORT WORTH)	other	rs33964507	RCV000017023
HEMOGLOBIN G (GEORGIA)	Conflicting classifications of pathogenicity	rs33931314	RCV000017025
HEMOGLOBIN G (NORFOLK)	Uncertain significance	rs33915947	RCV000017026
HEMOGLOBIN G (PEST)	Uncertain significance	rs28928875	RCV000017027
HEMOGLOBIN G (TAICHUNG)	Conflicting classifications of pathogenicity	rs28928875	RCV000017028
HEMOGLOBIN G (WAIMANALO)	other	rs33984024	RCV000017034
HEMOGLOBIN GARDEN STATE	other	rs34879587	RCV000017036
HEMOGLOBIN GODAVARI	Uncertain significance	rs33984621	RCV000017219
HEMOGLOBIN GOTHENBURG	other	rs35213748	RCV000017099
HEMOGLOBIN GOUDA	other	rs28928882	RCV000017217
HEMOGLOBIN GUANGZHOU	other	rs35873730	RCV000017040
HEMOGLOBIN GUIZHOU	other	rs34019158	RCV000017042
HEMOGLOBIN HANDA	other	rs33911106	RCV000017044
HEMOGLOBIN HANDSWORTH	Likely benign	rs34504387	RCV000017037
HEMOGLOBIN HANGZHOU	other	rs35873730	RCV000017041
HEMOGLOBIN HARBIN	other	rs35210126	RCV000017046
HEMOGLOBIN HEKINAN	Conflicting classifications of pathogenicity	rs41530750	RCV000017047
HEMOGLOBIN HIKOSHIMA	other	rs36024711	RCV000017155
HEMOGLOBIN HIROSAKI	other	rs41491146	RCV000017048
HEMOGLOBIN HOBART	other	rs33943087	RCV000017049
HEMOGLOBIN HOPKINS 2	Uncertain significance	rs34830032	RCV000017050
HEMOGLOBIN I	Conflicting classifications of pathogenicity	rs41407250	RCV000017051
HEMOGLOBIN I (BURLINGTON)	Conflicting classifications of pathogenicity	rs41407250	RCV000017052
HEMOGLOBIN I (PHILADELPHIA)	Conflicting classifications of pathogenicity	rs41407250	RCV000017053
HEMOGLOBIN I (SKAMANIA)	Conflicting classifications of pathogenicity	rs41407250	RCV000017054
HEMOGLOBIN I (TEXAS)	Conflicting classifications of pathogenicity	rs41407250	RCV000017055
HEMOGLOBIN IWATA	other	rs33976776	RCV000017056
HEMOGLOBIN J	Benign; Likely benign	rs35317336	RCV000017110
HEMOGLOBIN J (ABIDJAN)	other	rs35934411	RCV000017057
HEMOGLOBIN J (ALJEZUR)	other	rs35615982	RCV000017069
HEMOGLOBIN J (ANATOLIA)	other	rs41381645	RCV000017058
HEMOGLOBIN J (BIRMINGHAM)	Conflicting classifications of pathogenicity	rs63749927	RCV000017059
HEMOGLOBIN J (BISKRA)	other	rs63750122	RCV000017218
HEMOGLOBIN J (BROUSSAIS)	Likely benign	rs33914470	RCV000017000
HEMOGLOBIN J (CAMAGUEY)	other	rs33991910	RCV000017061
HEMOGLOBIN J (CUBUJUQUI)	other	rs33991910	RCV000017063
HEMOGLOBIN J (HABANA)	other	rs3180281	RCV000017064
HEMOGLOBIN J (MEDELLIN)	other	rs34608326	RCV000017066
HEMOGLOBIN J (MEERUT)	Conflicting classifications of pathogenicity	rs63749927	RCV000017060
HEMOGLOBIN J (MEXICO)	Benign; Likely benign	rs35317336	RCV000017111
HEMOGLOBIN J (NORFOLK)	other	rs36062788	RCV000017122
HEMOGLOBIN J (NYANZA)	other	rs11548605	RCV000017067
HEMOGLOBIN J (PARIS 1)	other	rs35615982	RCV000017068
HEMOGLOBIN J (PARIS 2)	Benign; Likely benign	rs35317336	RCV000017112
HEMOGLOBIN J (PONTOISE)	other	rs34502246	RCV000017142
HEMOGLOBIN J (RAJAPPEN)	Likely benign	rs33911106	RCV000017070
HEMOGLOBIN J (ROVIGO)	other	rs34574239	RCV000017071
HEMOGLOBIN J (SINGA)	other	rs33964623	RCV000017072
HEMOGLOBIN J (TASHIKUERGAN)	other	rs35628685	RCV000017074
HEMOGLOBIN J (TONGARIKI)	other	rs34204059	RCV000017075
HEMOGLOBIN J (TORONTO)	Uncertain significance	rs34090856	RCV000017076
HEMOGLOBIN J (WENCHANG-WUMING)	other	rs33938574	RCV000017175
HEMOGLOBIN JACKSON	other	rs63749865	RCV000017077
HEMOGLOBIN KAGOSHIMA	other	rs36062788	RCV000017123
HEMOGLOBIN KARACHI	other	rs34751764	RCV000017078
HEMOGLOBIN KARIYA	other	rs34492931	RCV000017079
HEMOGLOBIN KAWACHI	other	rs33978134	RCV000017080
HEMOGLOBIN KOELLIKER	other	rs121913128	RCV000017081
HEMOGLOBIN KOKURA	other	rs33944368	RCV000017083
HEMOGLOBIN KURASHIKI	Conflicting classifications of pathogenicity	rs28928875	RCV000017033
HEMOGLOBIN L (GASLINI)	other	rs33944368	RCV000017087
HEMOGLOBIN L (PERSIAN GULF)	other	rs35252931	RCV000017092
HEMOGLOBIN LAMEN ISLAND	other	rs2142009890	RCV000017237
HEMOGLOBIN LE LAMENTIN	other	rs41525149	RCV000017094
HEMOGLOBIN LILLE	other	rs33921047	RCV000017095
HEMOGLOBIN LISBON	other	rs281860684	RCV000017208
HEMOGLOBIN LUTON	other	rs33944813	RCV000017192
HEMOGLOBIN LUXEMBOURG	other	rs34743106	RCV000017097
HEMOGLOBIN M (BOSTON)	other	rs35213748	RCV000017098
HEMOGLOBIN M (GOTHENBURG)	other	rs35213748	RCV000017100
HEMOGLOBIN M (KISKUNHALAS)	other	rs35213748	RCV000017102
HEMOGLOBIN M (OSAKA)	other	rs35213748	RCV000017101
HEMOGLOBIN MAHIDOL	Conflicting classifications of pathogenicity	rs28928875	RCV000017031
HEMOGLOBIN MALHACEN	other	rs28928881	RCV000017210
HEMOGLOBIN MANTES-LA-JOLIE	other	rs34586189	RCV000017213
HEMOGLOBIN MATSUE-OKI	other	rs33977363	RCV000017107
HEMOGLOBIN MELUSINE	other	rs34472107	RCV000017203
HEMOGLOBIN MEMPHIS	other	rs33939620	RCV000017108
HEMOGLOBIN MEXICO	Benign; Likely benign	rs35317336	RCV000017109
HEMOGLOBIN MICHIGAN-I	other	rs33944368	RCV000017085
HEMOGLOBIN MICHIGAN-II	other	rs33944368	RCV000017086
HEMOGLOBIN MIYANO	other	rs34890875	RCV000017115
HEMOGLOBIN MIZUSHI	other	rs33991223	RCV000017116
HEMOGLOBIN MOABIT	other	rs35548338	RCV000017117
HEMOGLOBIN MONTEFIORE	other	rs63750950	RCV000017200
HEMOGLOBIN MOSELLA	other	rs34863047	RCV000017214
HEMOGLOBIN MUGINO	other	rs33944368	RCV000017090
HEMOGLOBIN MUNAKATA	other	rs33911106	RCV000017045
HEMOGLOBIN NECKER ENFANTS-MALADES	other	rs34708054	RCV000017118
HEMOGLOBIN NIGERIA	Uncertain significance	rs34936612	RCV000017119
HEMOGLOBIN NISHIK	other	rs36062788	RCV000017124
HEMOGLOBIN NOKO	other	rs33969953	RCV000017120
HEMOGLOBIN NORFOLK	other	rs36062788	RCV000017121
HEMOGLOBIN NOUAKCHOTT	other	rs33910377	RCV000017125
HEMOGLOBIN O (BUGINESE-X)	Conflicting classifications of pathogenicity	rs63749882	RCV000017128
HEMOGLOBIN O (INDONESIA)	Conflicting classifications of pathogenicity	rs63749882	RCV000017127
HEMOGLOBIN O (OLIVIERE)	Conflicting classifications of pathogenicity	rs63749882	RCV000017130
HEMOGLOBIN O (PADOVA)	Conflicting classifications of pathogenicity	rs33993166	RCV000017132
HEMOGLOBIN OEGSTGEEST	other	rs35059618	RCV000017236
HEMOGLOBIN OGI	Uncertain significance	rs35203445	RCV000017133
HEMOGLOBIN OITA	other	rs28928883	RCV000017220
HEMOGLOBIN OLEANDER	other	rs63749882	RCV000017135
HEMOGLOBIN OLIVIERE	Conflicting classifications of pathogenicity	rs63749882	RCV000017131
HEMOGLOBIN OTTAWA	Likely benign	rs35816645	RCV000017136
HEMOGLOBIN OWARI	Uncertain significance	rs63751008	RCV000017138
HEMOGLOBIN OZIERI	other	rs3180281	RCV000017193
HEMOGLOBIN PAVIE	other	rs35994191	RCV000017186
HEMOGLOBIN PERSPOLIS	other	rs33984024	RCV000017139
HEMOGLOBIN POITIERS	other	rs33931984	RCV000017196
HEMOGLOBIN PONTOISE	other	rs34502246	RCV000017141
HEMOGLOBIN PORT HURON	other	rs33949106	RCV000017185
HEMOGLOBIN PORT PHILLIP	other	rs34684963	RCV000017143
HEMOGLOBIN Q	Conflicting classifications of pathogenicity	rs28928875	RCV000017029
HEMOGLOBIN Q (INDIA)	Uncertain significance	rs33984024	RCV000017144
HEMOGLOBIN Q (IRAN)	other	rs33977363	RCV000017145
HEMOGLOBIN Q (THAILAND)	Conflicting classifications of pathogenicity	rs28928875	RCV000017030
HEMOGLOBIN QUEENS	Uncertain significance	rs35203445	RCV000017134
HEMOGLOBIN QUESTEMBERT	other	rs35974739	RCV000017187
HEMOGLOBIN RAMONA	Uncertain significance	rs28928880	RCV000017206
HEMOGLOBIN REIMS	other	rs33939421	RCV000017146
HEMOGLOBIN RICCARTON	Likely benign	rs33960522	RCV000017235
HEMOGLOBIN ROANNE	other	rs34814612	RCV000017209
HEMOGLOBIN ROUBAIX	other	rs34068598	RCV000017223
HEMOGLOBIN RUSS	Conflicting classifications of pathogenicity	rs33960522	RCV000017147
HEMOGLOBIN SARATOGA SPRINGS	other	rs28928886	RCV000017228
HEMOGLOBIN SAWARA	other	rs33986902	RCV000017150
HEMOGLOBIN SERBIA	other	rs34713708	RCV000017162
HEMOGLOBIN SETIF	other	rs34102339	RCV000017151
HEMOGLOBIN SHAARE ZEDEK	other	rs34182019	RCV000017152
HEMOGLOBIN SHENYANG	other	rs35477770	RCV000017153
HEMOGLOBIN SHIMONOSEKI	other	rs36024711	RCV000017154
HEMOGLOBIN SHUANGFENG	other	rs34776279	RCV000017156
HEMOGLOBIN SIAM	Likely benign	rs35816645	RCV000017137
HEMOGLOBIN SINGAPORE	Uncertain significance	rs33935328	RCV000017157
HEMOGLOBIN ST. CLAUDE	other	rs63751308	RCV000017158
HEMOGLOBIN ST. LUKE'S	Conflicting classifications of pathogenicity	rs33931314	RCV000017159
HEMOGLOBIN STANLEYVILLE-II	other	rs34440919	RCV000017160
HEMOGLOBIN STRUMICA	other	rs34713708	RCV000017161
HEMOGLOBIN SUNSHINE SETH	Uncertain significance	rs34102339	RCV000017163
HEMOGLOBIN SWAN RIVER	Uncertain significance	rs33986902	RCV000017165
HEMOGLOBIN TAGAWA I	Likely benign	rs33914470	RCV000017001
HEMOGLOBIN TAGAWA II	other	rs33944368	RCV000017088
HEMOGLOBIN TAMANO	other	rs33944813	RCV000017234
HEMOGLOBIN TATRAS	Likely benign	rs34410516	RCV000017207
HEMOGLOBIN THAILAND	other	rs33949106	RCV000017166
HEMOGLOBIN THIONVILLE	other	rs281864802	RCV000017188
HEMOGLOBIN TITUSVILLE	other	rs34102339	RCV000017167
HEMOGLOBIN TOKONAME	other	rs34849179	RCV000017168
HEMOGLOBIN TOKYO	other	rs33944813	RCV000017233
HEMOGLOBIN TONOSHO	other	rs34629158	RCV000017183
HEMOGLOBIN TORINO	other	rs35511459	RCV000017169
HEMOGLOBIN TOTTORI	other	rs28928878	RCV000017170
HEMOGLOBIN TURRIFF	other	rs34806456	RCV000017190
HEMOGLOBIN TWIN PEAKS	Conflicting classifications of pathogenicity	rs35654345	RCV000017173
HEMOGLOBIN UBE-2	Uncertain significance	rs34823698	RCV000017176
HEMOGLOBIN UBE-4	Likely benign	rs35932809	RCV000017177
HEMOGLOBIN UMI	other	rs33944368	RCV000017089
HEMOGLOBIN UPPSALA	Benign; Likely benign	rs35317336	RCV000017113
HEMOGLOBIN UTSUNOMIYA	other	rs34019158	RCV000017043
HEMOGLOBIN VILLEURBANNE	other	rs34988734	RCV000017232
HEMOGLOBIN WINNIPEG	Conflicting classifications of pathogenicity	rs33977363	RCV000017179
HEMOGLOBIN WOODVILLE	Uncertain significance	rs33961916	RCV000017180
HEMOGLOBIN WUMING	other	rs33938574	RCV000017174
HEMOGLOBIN YUDA	other	rs63750613	RCV000017198
HEMOGLOBIN YUKUHASHI-2	other	rs33944368	RCV000017091
HEMOGLOBIN ZAMBIA	other	rs281860659	RCV000017181
Thalassemia	Uncertain significance	rs556340454	RCV003517870

Show/Hide Text Mining Associations (65)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
alpha Thalassemia	Associate	14576055, 16103716, 17296578, 18166800, 18691171, 23614625, 24627726, 25024506, 26316481, 26824843, 27173219, 27665672, 28901454, 32482310, 32751969 View all (9 more)
alpha Thalassemia	Inhibit	21345100
Alzheimer Disease	Associate	10404591
Anemia	Associate	19349619, 2214342, 34764282, 37548329, 39530711
Anemia Hemolytic	Associate	18691171, 32199931
Anemia Hemolytic Congenital	Associate	37697358
Anemia hypochromic microcytic	Associate	12542500, 27624280
Anemia Sickle Cell	Associate	18691171, 23406172, 26316481, 34334003, 36939273, 38626234, 39252479
Asthma	Associate	37146352
beta Thalassemia	Associate	12176917, 12353305, 1698102, 19794088, 21114907, 2214342, 24351118, 27080228, 2713503, 27173219, 28901454, 29049312, 33940155, 34708592, 38059617, 39252479, 8012089, 8980256 View all (3 more)
Brain Ischemia	Stimulate	24642708
Carcinogenesis	Associate	36346805
Carcinoma Hepatocellular	Associate	36346805
Cardiomegaly	Associate	34334003
Cardiomyopathy Dilated	Associate	28500252, 35052472, 36769209
Cholelithiasis	Associate	32751969
Clubfoot	Associate	35292718
COVID 19	Associate	35017110
Death	Associate	24716903
Death Sudden Cardiac	Associate	24642708
Delta Beta Thalassemia	Associate	12176917, 12353305
delta Thalassemia	Associate	3401592
Diabetic Angiopathies	Associate	35163309
Disease	Associate	12542500, 2831226
Fabry Disease	Associate	12542500, 23614625, 7490322, 8707958
Fatty Liver Alcoholic	Associate	21931690
Fetal Diseases	Associate	34334003
Genetic Diseases Inborn	Associate	40447697
Glycogen Storage Disease XII	Associate	33887194
Heart Diseases	Associate	24642708
Heart Failure	Associate	28500252, 37798313
Hemoglobin C Disease	Associate	23368878
Hemoglobinopathies	Associate	34510646, 39312720, 40053336
Hemolysis	Associate	23406172, 24716903, 26813021, 35163309
Hepatitis D	Associate	3401592
HIV Infections	Associate	25344230
Hydrops Fetalis	Associate	34334003
Hyperbilirubinemia	Associate	32860378
Hyperglycemia	Associate	35163309
Hypertension Pulmonary	Associate	24716903
Hypertrophy Left Ventricular	Associate	28500252
Inflammation	Associate	31703079, 35163309
Jaundice	Associate	2214342, 25309906, 32751969
Knuckle pads leuconychia and sensorineural deafness	Associate	31164695
Leukemia Myeloid Acute	Inhibit	36117408
Metabolic Diseases	Associate	35240786
Myelodysplastic Syndromes	Associate	14576055
Myocardial Infarction	Stimulate	24642708
Myocardial Ischemia	Stimulate	24642708
Neoplasms	Associate	10404591, 35659682
Neoplasms	Inhibit	36117408
Obesity Metabolically Benign	Associate	27106679
Osteoporosis	Associate	33061329
Philadelphia Chromosome	Associate	6935689
Polycythemia	Associate	35052472
Severe Acute Respiratory Syndrome	Associate	25344230
Stomach Neoplasms	Associate	35659682
Thalassemia	Associate	10398311, 28945175, 34708592, 35701592, 36861191, 37548329, 38059617, 8980256
Tissue Adhesions	Associate	37385390
Uterine Cervical Neoplasms	Associate	23349856
Vascular Diseases	Associate	24486321
Vascular System Injuries	Associate	35163309
Vertigo	Associate	25024506
Vitamin D Hydroxylation Deficient Rickets Type 1A	Associate	12111782
Zazam Sheriff Phillips syndrome	Associate	39262298

HBA1 (hemoglobin subunit alpha 1)