HBB (hemoglobin subunit beta)

Gene

• Entrez ID: 3043
• Gene name: Hemoglobin subunit beta
• Gene symbol: HBB
• Synonyms (NCBI Gene): CD113t-C, ECYT6, beta-globin
• Chromosome: 11
• Chromosome location: 11p15.4
• Summary: The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs334	T>A,C,G	Protective, pathogenic, other	Missense variant, coding sequence variant
rs1135071	C>A,G,T	Pathogenic, uncertain-significance	Synonymous variant, missense variant, coding sequence variant
rs1141387	C>A,G	Pathogenic	Missense variant, coding sequence variant
rs11549407	G>A,C,T	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs33910209	G>C,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, other	Coding sequence variant, missense variant
rs33910569	T>C,G	Pathogenic, other	Coding sequence variant, missense variant
rs33913413	G>A,C,T	Pathogenic, likely-pathogenic	Intron variant
rs33913712	C>A,T	Pathogenic, uncertain-significance, other	Coding sequence variant, stop gained, missense variant
rs33914668	T>C,G	Pathogenic	Splice acceptor variant
rs33914944	C>A,G,R,T	Pathogenic, uncertain-significance, other	Coding sequence variant, missense variant, synonymous variant
rs33915112	T>A,C,G	Pathogenic, other	Coding sequence variant, missense variant
rs33915217	C>A,G,T	Pathogenic, pathogenic-likely-pathogenic	Intron variant
rs33916412	A>C,G,T	Pathogenic, other	Coding sequence variant, missense variant
rs33917628	C>G,T	Pathogenic, other	Coding sequence variant, missense variant
rs33917785	A>C,G	Pathogenic, other	Coding sequence variant, missense variant
rs33918338	T>A,C,G	Pathogenic, other	Coding sequence variant, missense variant
rs33918343	A>C,G,T	Pathogenic, other	Coding sequence variant, missense variant
rs33921821	G>A,T	Pathogenic, other	Coding sequence variant, missense variant
rs33922842	C>A,G,T	Benign, pathogenic	Coding sequence variant, stop gained, missense variant
rs33922873	G>A,T	Pathogenic, other	Coding sequence variant, missense variant
rs33924146	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs33924775	G>A,C,T	Pathogenic, other	Coding sequence variant, missense variant
rs33925391	A>C,G,T	Uncertain-significance, likely-benign, pathogenic, other, likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs33929459	C>A,G,T	Pathogenic, uncertain-significance, other	Coding sequence variant, missense variant
rs33930165	C>G,T	Pathogenic, protective, other	Coding sequence variant, missense variant
rs33930702	C>A,G,T	Pathogenic	Missense variant, initiator codon variant
rs33931746	T>C,G	Pathogenic, pathogenic-likely-pathogenic	Upstream transcript variant
rs33931779	A>G,T	Pathogenic, other	Coding sequence variant, missense variant
rs33933298	C>A,T	Pathogenic, other	Coding sequence variant, missense variant
rs33935673	T>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs33936254	T>A,C,G	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity, other, benign	Coding sequence variant, missense variant
rs33937393	T>C,G	Pathogenic, other	Coding sequence variant, missense variant
rs33940051	T>C,G	Pathogenic, other	Coding sequence variant, missense variant
rs33940204	A>C,G	Pathogenic, other	Coding sequence variant, missense variant
rs33941377	G>A,C,T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Upstream transcript variant
rs33941844	A>C,G,T	Pathogenic, other	Coding sequence variant, missense variant
rs33941849	A>C,G,T	Pathogenic, likely-pathogenic	Missense variant, initiator codon variant
rs33943001	C>G,T	Pathogenic	Splice acceptor variant
rs33944208	G>A,C,T	Pathogenic, likely-pathogenic	Upstream transcript variant
rs33945777	C>A,G,T	Pathogenic, likely-pathogenic	Splice donor variant
rs33946267	C>A,G,T	Pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity, other	Coding sequence variant, stop gained, missense variant
rs33947020	C>A,G,T	Conflicting-interpretations-of-pathogenicity, other	Coding sequence variant, missense variant
rs33947415	C>G,T	Uncertain-significance, other, pathogenic, not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs33949486	C>G,T	Benign, likely-benign, pathogenic	Coding sequence variant, missense variant
rs33949869	A>C,G,T	Pathogenic, other	Coding sequence variant, missense variant
rs33950507	C>A,G,T	Pathogenic, protective, other	Coding sequence variant, stop gained, missense variant
rs33951465	A>C,T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, synonymous variant
rs33951978	T>A,G	Pathogenic, other	Coding sequence variant, missense variant
rs33952266	C>A,G,T	Pathogenic	Splice acceptor variant
rs33954264	T>A,C,G	Pathogenic, other	Coding sequence variant, missense variant
rs33954595	C>A,G,T	Pathogenic, other	Coding sequence variant, missense variant
rs33956879	A>C,G,T	Pathogenic	Splice donor variant
rs33958358	C>A,T	Pathogenic, uncertain-significance, other	Coding sequence variant, missense variant
rs33959340	C>A,G,T	Pathogenic, uncertain-significance, other	Coding sequence variant, missense variant
rs33959855	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, other	Coding sequence variant, stop gained, missense variant
rs33960103	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs33961444	G>A,C	Pathogenic, other	Coding sequence variant, missense variant
rs33961886	C>A,G,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity, other, benign	Coding sequence variant, missense variant
rs33962676	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, other	Coding sequence variant, missense variant
rs33965000	G>A,C	Pathogenic, other	Coding sequence variant, missense variant
rs33966487	C>G,T	Pathogenic, other	Coding sequence variant, missense variant
rs33966761	A>C,G,T	Pathogenic, uncertain-significance, other	Coding sequence variant, missense variant
rs33969677	C>A,G,T	Pathogenic, likely-pathogenic, other	Coding sequence variant, missense variant
rs33969853	->T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs33971048	T>A,C,G	Pathogenic, other	Coding sequence variant, missense variant
rs33971440	C>A,T	Pathogenic, pathogenic-likely-pathogenic	Splice donor variant
rs33972047	T>C	Pathogenic, other	Coding sequence variant, missense variant
rs33972593	A>G,T	Pathogenic, other	Coding sequence variant, missense variant
rs33974936	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs33978338	A>C,G,T	Likely-pathogenic, other	Coding sequence variant, missense variant
rs33978907	A>G,T	Pathogenic, pathogenic-likely-pathogenic	3 prime UTR variant
rs33980857	A>C,G,T	Pathogenic, pathogenic-likely-pathogenic	Upstream transcript variant
rs33981098	T>C,G	Pathogenic	Upstream transcript variant
rs33982568	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs33983205	T>A,C,G	Pathogenic, other	Coding sequence variant, missense variant
rs33983276	G>A,C,T	Pathogenic, uncertain-significance, likely-pathogenic, other	Coding sequence variant, missense variant
rs33985472	T>C	Pathogenic, likely-pathogenic	3 prime UTR variant
rs33986703	T>A,C,G	Pathogenic	Coding sequence variant, stop gained, missense variant
rs33987903	T>A,C,G	Pathogenic, other	Coding sequence variant, missense variant
rs33991059	C>G,T	Pathogenic, other	Coding sequence variant, missense variant, stop gained
rs33991472	G>C,T	Pathogenic, other	Coding sequence variant, missense variant
rs33991993	C>A,G,R,T	Pathogenic, other, likely-pathogenic	Coding sequence variant, missense variant, synonymous variant
rs33993004	G>C,T	Pathogenic, other	Coding sequence variant, missense variant
rs33994806	G>A,C,T	Pathogenic, likely-pathogenic	Upstream transcript variant
rs33995148	T>A,C,G	Pathogenic, uncertain-significance, other	Coding sequence variant, stop gained, missense variant
rs33999427	->TG	Pathogenic, other	Coding sequence variant, frameshift variant, stop lost
rs34083951	G>A,C,T,Y	Pathogenic	Coding sequence variant, missense variant, synonymous variant
rs34135787	G>A,C	Pathogenic	5 prime UTR variant
rs34160180	AAC>-	Pathogenic	Coding sequence variant, inframe deletion
rs34165323	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs34218908	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs34282684	AC>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs34305195	T>G	Pathogenic, pathogenic-likely-pathogenic	5 prime UTR variant
rs34378160	A>C,G	Pathogenic, other	Coding sequence variant, missense variant
rs34451549	G>A	Pathogenic	Intron variant
rs34483965	G>A,C,T	Pathogenic, uncertain-significance, likely-pathogenic	Intron variant
rs34484056	A>T	Pathogenic	Coding sequence variant, missense variant
rs34500389	G>A,T	Pathogenic, uncertain-significance	Upstream transcript variant
rs34502690	CCT>-	Pathogenic	Coding sequence variant, inframe indel
rs34515413	G>A,C,T,Y	Likely-benign, other, conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant, synonymous variant
rs34527846	A>C,G,T	Pathogenic	Intron variant
rs34533941	->CA	Pathogenic	Coding sequence variant, frameshift variant
rs34563000	T>C	Pathogenic	Missense variant, initiator codon variant
rs34598529	T>C	Pathogenic	Upstream transcript variant
rs34690599	G>A,C	Pathogenic	Intron variant
rs34704828	C>A,T	Pathogenic	5 prime UTR variant
rs34716011	C>T	Pathogenic	Coding sequence variant, stop gained
rs34718174	C>G,T	Pathogenic, likely-benign	Coding sequence variant, missense variant
rs34750035	TC>-	Pathogenic	Intron variant
rs34793594	A>C	Pathogenic	Intron variant
rs34809925	G>A,C,T	Pathogenic	3 prime UTR variant
rs34856846	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs34868397	G>C	Pathogenic	Coding sequence variant, missense variant
rs34883338	G>A	Pathogenic, uncertain-significance	Upstream transcript variant
rs34889882	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs34933751	G>A,C,T,Y	Conflicting-interpretations-of-pathogenicity, other	Coding sequence variant, missense variant, synonymous variant
rs34937014	->T	Pathogenic	Coding sequence variant, frameshift variant
rs34948328	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs34980264	C>T	Pathogenic, other	Coding sequence variant, missense variant
rs34999973	G>A,C	Pathogenic, uncertain-significance, likely-pathogenic	Upstream transcript variant
rs35004220	C>T	Pathogenic	Intron variant
rs35020585	C>A,G,T	Pathogenic, not-provided, other	Coding sequence variant, missense variant, synonymous variant
rs35067717	G>C	Pathogenic, other	Coding sequence variant, missense variant
rs35117167	T>C	Pathogenic, other	Coding sequence variant, missense variant
rs35209591	C>A,G,T	Pathogenic, other	Coding sequence variant, missense variant, synonymous variant
rs35225141	->C	Pathogenic	Coding sequence variant, frameshift variant
rs35256489	A>G	Pathogenic, other	Coding sequence variant, missense variant
rs35291591	A>T	Pathogenic, other	Coding sequence variant, stop gained
rs35328027	A>C,G	Pathogenic, likely-benign	Intron variant
rs35348864	->GCC	Pathogenic	Coding sequence variant, splice acceptor variant
rs35351128	T>G	Pathogenic, other	Coding sequence variant, missense variant
rs35352549	A>-	Pathogenic	5 prime UTR variant
rs35383398	->C	Pathogenic	Coding sequence variant, frameshift variant
rs35395625	G>-,GG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs35424040	C>A,G,T	Pathogenic, likely-pathogenic, other	Coding sequence variant, missense variant
rs35456885	A>C,G,T	Pathogenic, likely-benign, likely-pathogenic	Intron variant
rs35477349	->A	Pathogenic	Coding sequence variant, frameshift variant
rs35485099	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs35497102	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs35532010	G>-,GG	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs35578002	G>A,T	Pathogenic, likely-benign	Coding sequence variant, synonymous variant
rs35619054	->AGAT	Pathogenic	Coding sequence variant, frameshift variant
rs35662066	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs35684407	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant, synonymous variant
rs35693898	A>G	Pathogenic	Coding sequence variant, missense variant
rs35699606	->C	Pathogenic	Coding sequence variant, frameshift variant
rs35703285	A>C	Pathogenic	Intron variant
rs35724775	A>G,T	Pathogenic, uncertain-significance	Intron variant
rs35799536	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs35849199	A>C,G	Pathogenic, other	Coding sequence variant, missense variant
rs35890959	C>A,G,T	Pathogenic, other	Coding sequence variant, missense variant
rs35894115	->T	Pathogenic	Coding sequence variant, frameshift variant
rs35949130	TTATT>-	Pathogenic	3 prime UTR variant
rs36015961	A>G	Pathogenic, other	Coding sequence variant, missense variant
rs36107977	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs41417446	AAA>-	Pathogenic	Coding sequence variant, inframe deletion
rs41443947	AG>C	Pathogenic	Coding sequence variant, frameshift variant
rs63749819	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs63749960	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs63750099	TGGGTCC>-	Pathogenic	Coding sequence variant, stop gained
rs63750128	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs63750205	AT>-	Likely-pathogenic	3 prime UTR variant
rs63750223	CAGCCTAAGGGTGGGAAAATAGACC>-	Pathogenic	Coding sequence variant, intron variant, splice acceptor variant
rs63750283	A>C,G,T	Likely-pathogenic	Splice donor variant
rs63750400	C>G,T	Uncertain-significance, likely-pathogenic	Upstream transcript variant
rs63750475	C>-	Pathogenic	Frameshift variant, initiator codon variant
rs63750513	T>C,G	Pathogenic	Splice acceptor variant
rs63750532	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs63750681	C>G	Pathogenic, uncertain-significance	Upstream transcript variant
rs63750783	C>T	Pathogenic	Coding sequence variant, stop gained
rs63750860	CAGC>TGTGG	Pathogenic	Coding sequence variant, frameshift variant
rs63750953	TT>-	Likely-pathogenic	Upstream transcript variant
rs63750954	T>A,C	Pathogenic	3 prime UTR variant
rs63751076	ACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCA>-	Pathogenic	Coding sequence variant, intron variant, splice donor variant
rs63751128	T>C	Pathogenic, pathogenic-likely-pathogenic	3 prime UTR variant
rs63751175	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs63751201	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs63751208	G>A	Pathogenic	Upstream transcript variant
rs63751218	TCACT>A	Pathogenic	Coding sequence variant, frameshift variant
rs80356820	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs80356821	AGAA>-	Pathogenic, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs111645889	G>A,T	Other, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs140033163	C>G	Conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs145669504	G>C,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs191535077	A>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs193922552	TC>AT	Likely-pathogenic	Coding sequence variant, missense variant
rs193922553	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs193922555	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs193922563	GCCTAAGGGTGGGAAAATAGACCAA>-,GCCTAAGGGTGGGAAAATAGACCAAGCCTAAGGGTGGGAAAATAGACCAA	Pathogenic	Splice acceptor variant, coding sequence variant, intron variant
rs267607291	GG>-,G	Pathogenic	Coding sequence variant, frameshift variant
rs267607297	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs281864518	G>A	Likely-pathogenic	Upstream transcript variant
rs281864530	A>T	Pathogenic	Stop gained, coding sequence variant
rs281864581	C>A,G	Pathogenic	Coding sequence variant, missense variant
rs281864901	G>-	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs281865475	G>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs370075492	G>A,T	Likely-pathogenic	Synonymous variant, coding sequence variant
rs558554234	G>A	Likely-benign, pathogenic	Intron variant
rs560643693	A>C	Conflicting-interpretations-of-pathogenicity, benign	Downstream transcript variant
rs762782573	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs769583496	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs781604042	A>G	Likely-pathogenic	Intron variant
rs1034207896	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1170203019	A>-	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1554917561	GTGGGGTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554917831	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554917888	->A	Pathogenic	Coding sequence variant, stop gained
rs1554917935	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554917947	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554918032	CTAAGGGTGGGAAAATA>-	Pathogenic	Splice acceptor variant, intron variant
rs1554918165	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554918214	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1564874813	A>-	Likely-pathogenic	Splice donor variant
rs1564874901	->GTGC	Pathogenic	Coding sequence variant, frameshift variant
rs1564875128	->CATC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1564875145	AC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1564875331	CATAA>TGATGCC	Pathogenic	Coding sequence variant, frameshift variant
rs1564875707	CCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGG	Pathogenic	Initiator codon variant, 5 prime UTR variant, upstream transcript variant, intron variant, splice donor variant
rs1589891039	CAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCC	Pathogenic	Terminator codon variant, splice acceptor variant, intron variant, 3 prime UTR variant
rs1589892417	->CCAC	Pathogenic	Coding sequence variant, frameshift variant
rs1589892882	->AGAT	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT049575	hsa-miR-92a-3p	CLASH	23622248
MIRT2008691	hsa-miR-3914	CLIP-seq
MIRT2008692	hsa-miR-633	CLIP-seq
MIRT2008691	hsa-miR-3914	CLIP-seq
MIRT2008692	hsa-miR-633	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CEBPB	Unknown	15833715
CEBPG	Unknown	15833715
GATA1	Unknown	15833715;20564185
KLF1	Unknown	21539536
NFE2L2	Unknown	15206576
NFYA	Unknown	15833715
NFYB	Unknown	15833715
NFYC	Unknown	15833715
POU2F2	Unknown	2302733

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004601	Function	Peroxidase activity	IDA	19740759
GO:0005344	Function	Oxygen carrier activity	IBA
GO:0005344	Function	Oxygen carrier activity	IEA
GO:0005344	Function	Oxygen carrier activity	NAS	1301199, 11747442
GO:0005515	Function	Protein binding	IPI	1552945, 6683087, 9441940, 9830011, 9894000, 10390349, 10930828, 11159543, 11724557, 15835899, 16169070, 25502805, 28514442, 28665412, 29997244, 30833564, 31515488, 32296183, 33961781, 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	8114096, 16765986, 24100324
GO:0005833	Component	Hemoglobin complex	NAS	1301199, 10588683
GO:0005833	Component	Hemoglobin complex	TAS	1540659
GO:0006954	Process	Inflammatory response	IDA	19740759
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0015670	Process	Carbon dioxide transport	NAS	7518430, 8114096, 11159543
GO:0015671	Process	Oxygen transport	IBA
GO:0015671	Process	Oxygen transport	IDA	11159543
GO:0015671	Process	Oxygen transport	IEA
GO:0015671	Process	Oxygen transport	IMP	7518430
GO:0015671	Process	Oxygen transport	NAS	1301199, 8114096, 11747442
GO:0015671	Process	Oxygen transport	TAS	1540659
GO:0019825	Function	Oxygen binding	IDA	11747442, 28066926
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:0030185	Process	Nitric oxide transport	NAS	8292032
GO:0030492	Function	Hemoglobin binding	IDA	1512262
GO:0031720	Function	Haptoglobin binding	IDA	19740759
GO:0031721	Function	Hemoglobin alpha binding	IBA
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:0045429	Process	Positive regulation of nitric oxide biosynthetic process	NAS	7965120
GO:0046872	Function	Metal ion binding	IEA
GO:0048821	Process	Erythrocyte development	IBA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070293	Process	Renal absorption	IMP	18465053, 18974585
GO:0070527	Process	Platelet aggregation	HMP	23382103
GO:0071682	Component	Endocytic vesicle lumen	TAS
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0097746	Process	Blood vessel diameter maintenance	IEA
GO:0098869	Process	Cellular oxidant detoxification	IEA
GO:1904724	Component	Tertiary granule lumen	TAS
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

Other IDs

• MIM: 141900
• HGNC: 4827
• e!Ensembl: ENSG00000244734

Protein

• UniProt ID: P68871
• Protein name: Hemoglobin subunit beta (Beta-globin) (Hemoglobin beta chain) [Cleaved into: LVV-hemorphin-7; Spinorphin]
• Protein function: Involved in oxygen transport from the lung to the various peripheral tissues. ; LVV-hemorphin-7 potentiates the activity of bradykinin, causing a decrease in blood pressure.; [Spinorphin]: Functi
• PDB: 1A00, 1A01, 1A0U, 1A0Z, 1A3N, 1A3O, 1ABW, 1ABY, 1AJ9, 1B86, 1BAB, 1BBB, 1BIJ, 1BUW, 1BZ0, 1BZ1, 1BZZ, 1C7B, 1C7C, 1C7D, 1CBL, 1CBM, 1CH4, 1CLS, 1CMY, 1COH, 1DKE, 1DXT, 1DXU, 1DXV, 1FN3, 1G9V, 1GBU, 1GBV, 1GLI, 1GZX, 1HAB, 1HAC, 1HBA, 1HBB, 1HBS, 1HCO, 1HDB, 1HGA, 1HGB, 1HGC, 1HHO, 1IRD, 1J3Y, 1J3Z, 1J40
• Family and domains:

  Pfam

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

• Tissue specificity: TISSUE SPECIFICITY: Red blood cells. {ECO:0000269|PubMed:6539334}.
• Sequence:

  MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPK
  VKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFG
  KEFTPPVQAAYQKVVAGVANALAHKYH

• Sequence length: 147

Pathways

KEGG:

African trypanosomiasis
Malaria

Reactome:

Erythrocytes take up carbon dioxide and release oxygen
Erythrocytes take up oxygen and release carbon dioxide
Scavenging of heme from plasma
Neutrophil degranulation
Factors involved in megakaryocyte development and platelet production

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Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Anemia	Heinz body anemia	rs33933298, rs34598529, rs34378160, rs35724775, rs33946267, rs11549407	N/A
beta Thalassemia	Beta zero thalassemia, beta thalassemia, Beta-thalassemia HBB/LCRB, Beta-plus-thalassemia, beta thalassemia intermedia, dominant beta-thalassemia	rs33913712, rs33922842, rs1564874813, rs33951465, rs63750692, rs1847565768, rs193922563, rs33914668, rs34889882, rs281865475, rs63750099, rs1847559573, rs33950507, rs34999973, rs35662066, rs281864531, rs33941377, rs63750283, rs281864898, rs33952266, rs35724775, rs34548294, rs35699606, rs35004220, rs1847588915, rs33956879, rs1847563072, rs33971440, rs63749819, rs34466953, rs34598529, rs63750954, rs63750783, rs63750223, rs33944208, rs1847534434, rs35857380, rs63751076, rs34305195, rs34856846, rs63750504, rs35395625, rs1554917888, rs33910209, rs35619054, rs1847587286, rs34937014, rs1564874901, rs34690599, rs1847589398, rs33960103, rs35133315, rs33945777, rs267607291, rs1847553344, rs34533941, rs35949130, rs33995148, rs281864518, rs1847537515, rs1847516043, rs63749977, rs1847582308, rs281864906, rs1847560327, rs34363638, rs33994806, rs33943001, rs1554918165, rs33941849, rs33913413, rs34527846, rs33933298, rs63751218, rs33969853, rs34477959, rs33931746, rs33925391, rs35755331, rs35099082, rs1135071, rs33959855, rs193922552, rs281864520, rs1847560717, rs80356820, rs281864544, rs33986703, rs1554917947, rs1847587350, rs33930702, rs1847553498, rs33946267, rs36107977, rs63750475, rs33982568, rs281864532, rs63751208, rs34809925, rs1847579861, rs33969677, rs1847584946, rs193922553, rs1847557333, rs35171933, rs34378160, rs34750035, rs281864528, rs63750513, rs35456885, rs1847587392, rs63750205, rs34563000, rs1847553585, rs267607297, rs35894115, rs1847518799, rs63750774, rs35684407, rs1847585652, rs1847557422, rs33930165, rs35328027, rs34960334, rs63751306, rs33981098, rs1847587799, rs33974936, rs63750400, rs34716011, rs1554917970, rs33972047, rs281864901, rs1847553982, rs63751128, rs63750532, rs34502690, rs34171453, rs1847554565, rs34135787, rs267607295, rs33915217, rs1847585864, rs34282684, rs1847557540, rs1847587930, rs35165357, rs281864527, rs11549407, rs34451549, rs281864525, rs63749960, rs33979901, rs1554918032, rs35477349, rs34831847, rs41443947, rs35497102, rs1847520793, rs34883338, rs35348864, rs34704828, rs35532010, rs33940204, rs1847585812, rs193922555, rs34165323, rs34948328, rs35703285, rs1847561467, rs80356821, rs33930977, rs33991059, rs1847591425, rs1847554171, rs35383398, rs36015961, rs281864497, rs35619688, rs35256489, rs1554918214, rs1847558511, rs33978907, rs1847561978, rs35424040, rs63750556, rs33980857, rs1554917561, rs33985472, rs1847592245, rs36029927, rs35371965, rs267607293, rs1847523960, rs35225141, rs281864899, rs1847586938, rs281864519, rs1847562189, rs35699671, rs1847551520, rs1564875707, rs1847592435, rs63750128, rs63749957, rs1847555115, rs33969400, rs33953406, rs1847582194, rs34218908, rs1847587051, rs1847588699, rs1847562491, rs1847552816, rs1564875331	N/A
Erythrocytosis	erythrocytosis, familial, 6	rs33918338, rs33951978, rs1141387, rs35020585, rs33954595, rs35117167, rs33949869, rs35724775, rs34690599, rs36020563, rs33987903, rs33945777, rs33969677, rs35890959, rs35004220	N/A
hemoglobinopathy	Hemoglobinopathy	rs63750128, rs35890959, rs35532010, rs33927093, rs1564874901, rs35002698, rs34160180, rs35662066, rs33933298, rs33925391, rs63751076, rs33916412, rs1847589398, rs35133315, rs33944208, rs34856846, rs63750513, rs35693898, rs33969677, rs34563000, rs33949869, rs63750532, rs63751128, rs33974936, rs33979901, rs34704828, rs35485099, rs35395625, rs33950507, rs33966761, rs35383398, rs33924775, rs33922842, rs35424040, rs36008922	N/A
alpha thalassemia	alpha Thalassemia	rs11549407	N/A
hemolytic anemia	Hemolytic anemia	rs33924146	N/A
Hemolytic Uremic Syndrome	Atypical hemolytic-uremic syndrome	rs33972593	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
Delta-Beta Thalassemia	delta-beta-thalassemia	N/A	N/A	GenCC
Diabetes	Type 2 diabetes with renal manifestations (PheCode 250.22)	N/A	N/A	GWAS
Hemoglobin C Disease	hemoglobin C disease	N/A	N/A	GenCC
Hemoglobin C-Beta-Thalassemia Syndrome	hemoglobin C-beta-thalassemia syndrome	N/A	N/A	GenCC
Hemoglobin E Disease	hemoglobin E disease	N/A	N/A	GenCC
Hemoglobin E-Beta-Thalassemia Syndrome	hemoglobin E-beta-thalassemia syndrome	N/A	N/A	GenCC
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	N/A	N/A	GenCC
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	hereditary persistence of fetal hemoglobin-sickle cell disease syndrome	N/A	N/A	GenCC
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy 26	N/A	N/A	ClinVar
Sickle Cell-Beta-Thalassemia Disease	sickle cell-beta-thalassemia disease syndrome	N/A	N/A	GenCC
Sickle Cell-Hemoglobin Disease	sickle cell-hemoglobin c disease syndrome, sickle cell-hemoglobin d disease syndrome, sickle cell-hemoglobin E disease syndrome	N/A	N/A	GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Acro Osteolysis	Associate	35145077
Acute Chest Syndrome	Associate	23952145
Agenesis of Cerebellar Vermis	Associate	29961766
Albuminuria	Associate	27650483
Alcoholism	Associate	31494441
alpha Thalassemia	Associate	1276470, 1932755, 28901454, 2988669, 40441082, 873928
Altitude Sickness	Associate	33393624
Alzheimer Disease	Associate	32517787
Anemia	Associate	17768122, 2018842, 22244832, 25307880, 2581637, 28154185, 31124399, 33772535, 34764282, 34789072, 35289581, 35667093, 9209003
Anemia Hemolytic	Associate	1586746, 16189162, 22028795, 31399060, 31406232, 39225257, 7860732
Anemia Hemolytic Congenital	Associate	2996663
Anemia hypochromic microcytic	Associate	39262298
Anemia Macrocytic	Associate	39262298
Anemia Sickle Cell	Associate	10373600, 10651741, 11909945, 12907707, 13130139, 1346253, 14550808, 14587041, 15778708, 15828874, 16091448, 16356170, 16585504, 17493634, 17508724, 17556711, 17662889, 17688704, 18667698, 18829352, 19482945, 19603597, 20353593, 21264913, 21329186, 23409025, 23465615, 23952145, 24157834, 2421808, 24224700, 24290434, 2441779, 24786126, 25197158, 25702619, 25858298, 26137540, 26327979, 26394108, 26940952, 27022141, 2704745, 27406980, 27501013, 27525524, 27936141, 28115816, 28154185, 28249145, 28267358, 28280727, 28379995, 28760671, 28800727, 28912365, 2898142, 29157167, 29164808, 29345446, 29519807, 29526279, 29609623, 29614633, 29614637, 2996337, 30082871, 30108108, 30110085, 30119651, 30424953, 30520510, 30843001, 31158329, 31178391, 31213470, 31255831, 31634902, 31713857, 31830127, 32001505, 32034898, 32142671, 32503527, 32873924, 33238928, 33243953, 33357513, 33399855, 33689292, 34418541, 34585664, 34772994, 35087158, 35221311, 35247584, 35456398, 35785794, 36031983, 36106931, 36180284, 36330781, 36409722, 36633442, 36646975, 36705132, 36897914, 37190030, 3768534, 38081985, 38378484, 39205400, 39209956, 39267277, 39944193, 40362693, 40518656, 6162380, 6207872, 6272289, 6310991, 7477010, 7517214, 7531513, 7635951, 8571935, 8608254, 8630419, 873928, 8756085, 8892730, 8980265, 9604756, 9766796, 9883803
Aneuploidy	Associate	31092881, 33216308
Aortic Aneurysm Abdominal	Associate	29439675
Aortic Aneurysm Familial Abdominal 1	Associate	36341412
Aortic Aneurysm Thoracic	Associate	36341412
Arterial Occlusive Diseases	Associate	24786126, 32172616, 34772994, 37190030
Asthma	Associate	34326365, 37146352
ATR X syndrome	Associate	32111191
beta Thalassemia	Associate	10233364, 10331503, 10367791, 10367795, 10373600, 1055426, 10556289, 10606872, 10651741, 10706767, 10815781, 10840054, 10861808, 11074543, 11559932, 11559936, 11564083, 12139763, 12210807, 12393543, 12508270, 12751341, 12827652, 12846902, 12890746, 1362099, 1374896, 1391961, 14627823, 14687034, 1477672, 15009072, 15094716, 15256071, 15327529, 15352994, 1536956, 15566365, 15609277, 1586746, 15968446, 1600278, 16126871, 16184579, 16189162, 16225661, 16445840, 16470532, 16628732, 16924651, 1698102, 17034028, 17041717, 17094097, 17160997, 17229648, 17556711, 17665502, 17768122, 18326525, 18413893, 18534069, 1856830, 18694524, 18774771, 18796252, 19050890, 19251649, 19420802, 19460936, 19482945, 19506384, 19696200, 1971109, 19807730, 19810011, 1985702, 1986379, 1995096, 2001456, 20181291, 2018842, 2040696, 20557680, 20665635, 2089040, 21389146, 21390308, 21403433, 21732929, 21757944, 21879898, 22000492, 2214342, 22460946, 22871617, 23100274, 23319887, 23429513, 23852782, 23861885, 23878091, 2393018, 24155235, 24157834, 2439149, 2440502, 2441779, 2456798, 2458145, 2458154, 2462940, 25017762, 25243862, 2542242, 25469539, 2580095, 25849334, 25858298, 26156589, 26201722, 26292035, 26342260, 26377036, 26612711, 2665856, 26715484, 26771086, 27077761, 27080228, 2713503, 27288406, 27345970, 27351925, 27525524, 27526959, 27848919, 28120779, 28143837, 28154185, 2822177, 28235086, 28266198, 28272531, 28280727, 28379995, 28503568, 28595636, 28667000, 287080, 2876738, 28901454, 28942539, 2897787, 2898955, 2901867, 29157184, 2915972, 29164808, 2920213, 2920214, 29202846, 29295702, 29482624, 29519807, 29637841, 29669226, 2987224, 2987809, 2999697, 30044883, 3005579, 30079761, 30108108, 30119651, 3014870, 3033668, 30424953, 30520510, 30521599, 30531823, 30704988, 30777047, 30868793, 31092881, 31124399, 31134759, 31275994, 31406232, 31566929, 31631510, 31830127, 31941534, 32001505, 32111191, 32172616, 32473995, 32732363, 32798645, 32885601, 32912325, 32933098, 33033327, 33157391, 33191878, 33272312, 33491330, 33592169, 33845912, 33903312, 33940155, 33970899, 34385667, 34408192, 34585664, 3462712, 34708592, 34727790, 34886762, 34948226, 34951062, 35087158, 35141813, 35255977, 35269949, 35549527, 35563395, 35600576, 35615994, 36011295, 36114353, 36209112, 36210651, 36639729, 36898140, 36902239, 37015769, 37225409, 37339583, 37580329, 37672319, 37740604, 37815396, 37876062, 37890329, 37895316, 3799598, 38059617, 38062488, 38112059, 39267277, 4018033, 40197981, 461203, 4685090, 5009120, 6086605, 6089938, 6091839, 6166632, 6190800, 6210198, 6251466, 6256028, 6264391, 6264477, 6270195, 6270663, 6275383, 6280138, 6292840, 6298782, 6308558, 6310991, 6316272, 6327288, 6457059, 6572978, 6583702, 6585831, 6714226, 6826539, 6826735, 6933479, 6956887, 6985481, 7076659, 7162987, 71735, 7320200, 7477010, 7507736, 7567451, 7579421, 7632967, 7677966, 7682618, 7860732, 7885837, 8012089, 803101, 8101733, 8161774, 8178823, 8378346, 8619407, 8630419, 8835597, 88735, 8929650, 8978308, 9034292, 9055002, 9209003, 9423815, 9427726, 9544969, 9560205, 9792288, 9827907
beta Thalassemia	Stimulate	1932755, 9723583
beta Thalassemia	Inhibit	23209183, 25892530, 30859773, 31280628, 40004059, 40179812
Brain Ischemia	Associate	24642708
Breast Neoplasms	Associate	40462176
Carcinoma Ovarian Epithelial	Associate	34320033
Carcinoma Renal Cell	Associate	2704745, 36646975
Cardiomyopathy Dilated	Associate	28500252, 35052472
Carney Complex	Associate	38378484
Cholelithiasis	Associate	24265529
Clubfoot	Associate	35292718
Colorectal Neoplasms	Associate	24762493
Communicable Diseases	Associate	26394108
Complement Component 3 Deficiency Autosomal Recessive	Associate	2212005
Congenital Methemoglobinemia	Associate	15929117
COVID 19	Associate	35017110, 39174791
Critical Illness	Associate	39174791
Cyanosis	Associate	34789072, 36867085
Cystic Fibrosis	Associate	33357513, 9604756
Dacryocystitis	Associate	17362365
Death Sudden Cardiac	Associate	24642708
Delta Beta Thalassemia	Associate	11493481, 1689188, 2242432, 2458154, 2581637, 2798417, 2822174, 2875756, 3179447, 3345345, 3763397, 38212249, 6162860, 6196781, 6323412, 6327288, 6839025, 7515719, 7515720, 7680922, 9029004
delta Thalassemia	Associate	6307432
Diabetes Mellitus	Associate	31213470, 32020779, 37876062
Diabetes Mellitus Type 2	Associate	36339449
Disease	Associate	10050705, 1702028, 2542242, 35749392, 37015769, 6308057
Distal myopathy Nonaka type	Inhibit	37797812
Dizziness	Associate	36867085
DNA Virus Infections	Associate	25078150
Drug Hypersensitivity	Associate	2453359
Dyserythropoiesis Congenital with Internuclear Chromatin Bridges and Ultrastructurally Normal Erythroblast Heterochromatin	Associate	16628732, 25585695
Dyskinesias	Associate	24468054
Encephalitis St. Louis	Associate	39262298
Endocrine System Diseases	Associate	37876062
Epilepsy Tonic Clonic	Associate	37876062, 8980265
Fatty Liver Alcoholic	Associate	21931690
Fetal Diseases	Associate	2425363, 7507736
Fibrosis	Associate	17135308, 17565724
Genetic Diseases Inborn	Associate	10373600, 1055426, 16356170, 23429513, 29961766, 35031571, 6208695
Glaucoma Open Angle	Associate	36002796
Glucosephosphate Dehydrogenase Deficiency	Associate	16356170, 31213470
Glutamate Monosodium Sensitivity	Associate	2997715
Glycogen Storage Disease 0 Muscle	Associate	11564083, 16126871, 26292035, 26394108, 26771086, 28763119, 33903312, 461203, 6327288
Glycogen Storage Disease XII	Associate	33887194
Growth Disorders	Associate	19149873
Heart Diseases	Associate	24642708
Heart Failure	Associate	28500252, 35346191, 39563337
Hemangioma Cavernous Central Nervous System	Associate	38378484
Hemoglobin C Disease	Associate	17160997, 25313792, 29609623, 33091040, 33874827, 36401470, 38110882, 6310991, 9034292
Hemoglobin M Disease	Associate	33251782
Hemoglobin SC Disease	Associate	26940952, 34418541, 36897914
Hemoglobinopathies	Associate	16103151, 16924651, 17722269, 1985702, 20872549, 22028795, 25313792, 26886832, 28379995, 29519807, 30424953, 32576837, 32755585, 33272312, 34510646, 34535703, 34585664, 35224763, 36106931, 37265399, 37782073, 40053336, 6275383, 7647405, 7860732, 8111050, 8178823, 8980265
Hemolysis	Associate	1586746, 26813021, 33776989, 34789072
Hepatitis C Chronic	Associate	17135308
Herpes Genitalis	Associate	26562701
Hyperplasia	Associate	16628732
Hypersensitivity Immediate	Associate	24802353
Hypertrophy Left Ventricular	Associate	28500252
Hypogonadism	Associate	37876062
Hypoparathyroidism	Associate	37876062
Hypothyroidism	Associate	37876062
Idiopathic Pulmonary Fibrosis	Associate	20836851
Infections	Associate	17688704
Inflammation	Associate	26694100, 26779447, 30666251
Iron Deficiencies	Associate	17135308
Iron Overload	Associate	39225257
Kidney Diseases	Associate	27650483
Leukemia Erythroblastic Acute	Associate	12393613, 15308321, 1705003, 6587773, 6595498, 8118043
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	7795240
Leukemia Myeloid Acute	Inhibit	36117408
Liver Cirrhosis	Associate	17135308
Liver Diseases	Associate	17565724
Lung Diseases	Associate	20836851
Malaria	Associate	1586746, 19149873, 20128890, 25261933, 26394108, 26516624, 28939159, 35031571, 817597
Methemoglobinemia	Associate	34789072, 38110882
Methemoglobinemia Alpha Globin Type	Associate	11559936
Methemoglobinemia Beta Globin Type	Associate	19327156, 26886832
Mucolipidosis II Alpha Beta	Associate	7218276
Multiple Organ Failure	Associate	8980265
Multiple Sclerosis	Associate	16504146, 26809286
Myelodysplastic Syndromes	Associate	35247584
Myocardial Infarction	Stimulate	24642708
Myocardial Ischemia	Stimulate	24642708
Neoplasm Metastasis	Associate	15309713
Neoplasms	Associate	15309713, 16542425, 23691506, 24489662, 29579369, 39563337
Neoplasms	Inhibit	15956966, 36117408
Neoplastic Syndromes Hereditary	Associate	6159595
Obesity	Associate	26694100
Obesity Maternal	Associate	31092881
Osteoporosis	Associate	33061329
Ovalocytosis Hereditary Hemolytic with Defective Erythropoiesis	Inhibit	40179812
Ovarian Neoplasms	Associate	15771624, 34320033
Pain	Associate	18667698, 21329186
Plasminogen Activator Inhibitor 1 Deficiency	Associate	34538821
Pneumonia	Associate	33357513
Polycystic Kidney Autosomal Dominant	Associate	36646975
Polycythemia	Associate	35052472
Polycythemia Vera	Associate	21355091
Polyradiculoneuropathy Chronic Inflammatory Demyelinating	Associate	24290434
Prostatic Neoplasms	Associate	37070095
Protein S Deficiency	Associate	15858131, 26394108
Pseudoxanthoma Elasticum	Associate	31646622
Pulmonary Disease Chronic Obstructive	Associate	33874827, 34326365
Pulmonary Embolism	Associate	7647405
Relative Energy Deficiency in Sport	Associate	30645582
Renal Insufficiency Chronic	Associate	28115816, 33783510
Scalp ear nipple syndrome	Associate	38378484
Seizures	Associate	40140352
Severe Acute Respiratory Syndrome	Associate	12752111
Sickle Cell Trait	Associate	37358249
Spherocytosis Hereditary	Associate	33210974
Splenomegaly	Associate	24265529, 26771086, 9209003
Spondylocarpotarsal synostosis	Associate	29590102
Stomach Neoplasms	Associate	9231159
Stomatitis Aphthous	Associate	34341431
Stroke	Associate	36580209
Systemic carnitine deficiency	Associate	31713857
Thalassemia	Associate	10398311, 10944225, 11559936, 12498768, 1346253, 1374896, 15054814, 15329491, 15352994, 1557399, 1586746, 16263421, 17034028, 17768122, 19650141, 1986379, 20872549, 25017762, 25313792, 2542242, 25469539, 26516624, 26612711, 268654, 28135306, 28235086, 28595636, 28768465, 29880180, 2997715, 30119651, 30430775, 30520510, 30868793, 30940865, 31124399, 31399060, 31830127, 32111191, 32885601, 33272312, 33772535, 33960744, 34495151, 34708592, 34839893, 34951062, 35247584, 35289581, 35793787, 36861191, 36902239, 37265399, 37580329, 38062488, 38284449, 3840804, 39201263, 40140352, 40179812, 4018033, 40225154, 40377674, 40441082, 40536379, 6088226, 6210198, 6933479, 7147932, 7579421, 7935459, 8111050, 9371533, 9560205
Thalassemia	Inhibit	12393543, 27067481
Thyroid Cancer Papillary	Associate	15956966, 23691506
Thyroid Carcinoma Anaplastic	Associate	15956966
Tissue Adhesions	Associate	37385390
Transfusion Reaction	Associate	40377674
Turner Syndrome	Associate	25366798
Urethritis	Associate	22135257
Uterine Cervical Neoplasms	Associate	23349856
Walker Warburg Syndrome	Associate	39262298
Zazam Sheriff Phillips syndrome	Associate	39262298