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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs33913413	RCV005887530	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
alpha Thalassemia	Likely pathogenic; Pathogenic	rs33930165, rs33950507, rs11549407	RCV005357128 RCV005357129 RCV001197268	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anemia	Pathogenic	rs33950507	RCV000853358	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atypical hemolytic-uremic syndrome	Likely pathogenic	rs33972593	RCV003447476	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
beta Thalassemia	Likely pathogenic; Pathogenic	rs2133588176, rs750606223, rs2133587981, rs33945777, rs33994806, rs33930165, rs33917628, rs33946267, rs33950507, rs34378160, rs33960103, rs35424040, rs33933298, rs33922873, rs33972047, rs33969677, rs35256489, rs33986703, rs11549407, rs63750783, rs33974936, rs33922842, rs33995148, rs33982568, rs35497102, rs35662066, rs80356820, rs80356821, rs63749819, rs33969853, rs281864901, rs34889882, rs34856846, rs267607297, rs35383398, rs63750099, rs36107977, rs63750532, rs35532010, rs1554917888, rs33941849, rs33971440, rs1554918032, rs193922563, rs63751076, rs33943001, rs33915217, rs35724775, rs33913413, rs35004220, rs34690599, rs34451549, rs33951465, rs33944208, rs63751208, rs34883338, rs33941377, rs33981098, rs33980857, rs34598529, rs33931746, rs33985472, rs33925391, rs35894115, rs63751128, rs33913712, rs35949130, rs63750475, rs33952266, rs36015961, rs34999973, rs34750035, rs33930702, rs33910569, rs267607291, rs63751218, rs63750513, rs35477349, rs33914668, rs34809925, rs34135787, rs34704828, rs35225141, rs63750283, rs35619054, rs34563000, rs33991059, rs34305195, rs193922552, rs193922553, rs34282684, rs193922555, rs35699606, rs34937014, rs35328027, rs35703285, rs33978907, rs33956879, rs34527846, rs34716011, rs63749960, rs63750128, rs1847516043, rs1554917561, rs34218908, rs1554918165, rs35456885, rs35684407, rs1564875707, rs1564875331, rs1564874901, rs63750205, rs281865475, rs35395625, rs1564874813, rs63750223, rs281864518, rs35755331, rs281864532, rs1847518799, rs34171453, rs1847520793, rs281864497, rs1847523960, rs33953406, rs281864531, rs33910209, rs34363638, rs281864544, rs281864528, rs63751306, rs281864527, rs33930977, rs63750556, rs1847551520, rs1847552816, rs34466953, rs1847553344, rs34477959, rs1847553498, rs1847553585, rs1847553982, rs34831847, rs1847554171, rs35371965, rs1847555115, rs63750504, rs281864906, rs281864520, rs1847557333, rs1847557422, rs1847557540, rs34165323, rs1847558511, rs267607293, rs33969400, rs1847559573, rs1847560327, rs1847560717, rs35171933, rs34960334, rs35165357, rs1847561467, rs1847561978, rs1847562189, rs1847562491, rs1847563072, rs35133315, rs1554917970, rs33979901, rs36029927, rs63749957, rs1847565768, rs35857380, rs63749977, rs1135071, rs1847579861, rs267607295, rs35619688, rs281864899, rs1847582194, rs281864898, rs1847582308, rs33959855, rs1847584946, rs1847585652, rs1847585864, rs1847585812, rs1554918214, rs1847586938, rs1847587051, rs34548294, rs1847587286, rs1847587350, rs1847587392, rs1847587799, rs1847587930, rs34948328, rs281864519, rs1847588699, rs1847588915, rs1847589398, rs63750400, rs281864525, rs1847591425, rs1847592245, rs1847592435, rs63750692, rs1847534434, rs1847537515, rs35099082, rs63750774, rs1847554565, rs35348864	RCV001375567 RCV004699591 RCV002250997 RCV000169544 RCV003236443 RCV000576347 RCV001374642 RCV000029994 RCV000496072 RCV001831570 RCV000016432 RCV000169609 RCV001826464 RCV000988480 RCV000020338 RCV000029993 RCV000169614 RCV000589517 RCV000020337 RCV000379715 RCV000576738 RCV000984185 RCV000169502 RCV000665678 RCV001078254 RCV001078304 RCV000029972 RCV000173145 RCV000169145 RCV000020328 RCV000576555 RCV000576855 RCV000169256 RCV000586913 RCV001078331 RCV000586096 RCV001078383 RCV001078349 RCV001078257 RCV001078307 RCV000169441 RCV001078312 RCV000664667 RCV000020340 RCV000169505 RCV000020332 RCV001078335 RCV000030009 RCV001078435 RCV000587419 RCV000020341 RCV000984182 RCV000030004 RCV000415353 RCV000984183 RCV000020343 RCV000029978 RCV000020334 RCV000030002 RCV000020324 RCV000169081 RCV000445639 RCV000445653 RCV000029948 RCV000445643 RCV000029962 RCV000020326 RCV000589656 RCV000029960 RCV000445642 RCV000674175 RCV000016744 RCV000445654 RCV001078368 RCV001078299 RCV001078428 RCV001078268 RCV001826469 RCV000029954 RCV001078289 RCV001078376 RCV001078371 RCV000016817 RCV001078313 RCV000988481 RCV001078437 RCV000020335 RCV000020336 RCV000445641 RCV000445652 RCV000445640 RCV000445645 RCV000589491 RCV001078426 RCV001078409 RCV001078336 RCV001078337 RCV001078261 RCV001078348 RCV000029949 RCV000445644 RCV000445650 RCV000029957 RCV000029966 RCV001078264 RCV000590298 RCV000169623 RCV000029974 RCV000029975 RCV000029976 RCV000029979 RCV000029980 RCV000445649 RCV000030003 RCV000030006 RCV000030011 RCV000589075 RCV000590721 RCV000674991 RCV001078413 RCV000665219 RCV001078269 RCV001078284 RCV000588177 RCV000586222 RCV000588257 RCV000668023 RCV000666440 RCV000665080 RCV000721920 RCV000722073 RCV000722147 RCV001830660 RCV001078322 RCV001170018 RCV001078334 RCV000780307 RCV004561797 RCV001825527 RCV000781446 RCV000780332 RCV001078347 RCV001078354 RCV001078300 RCV001078298 RCV001078302 RCV001078301 RCV001078380 RCV001078379 RCV001078375 RCV001078373 RCV001078372 RCV001078333 RCV001078332 RCV001078330 RCV001078329 RCV001078326 RCV001078327 RCV001078421 RCV001078369 RCV001078370 RCV001078367 RCV001078364 RCV001078365 RCV001078363 RCV001078320 RCV001078360 RCV001078362 RCV001078319 RCV001078361 RCV001078358 RCV001078318 RCV001078317 RCV001078315 RCV001078314 RCV001078311 RCV001078308 RCV001078310 RCV001078309 RCV001078258 RCV001078256 RCV001078252 RCV001078251 RCV001078416 RCV001078250 RCV001078249 RCV001078418 RCV001078419 RCV001078417 RCV001078415 RCV001078414 RCV001078412 RCV001078411 RCV001078410 RCV001078408 RCV001078406 RCV001078407 RCV001078357 RCV001078355 RCV001078356 RCV001078353 RCV001078352 RCV001078350 RCV001078306 RCV001078305 RCV001078303 RCV001078386 RCV001078384 RCV001078279 RCV001078278 RCV001078276 RCV001078275 RCV001078436 RCV001078434 RCV001078433 RCV001078432 RCV001078291 RCV001078431 RCV001078429 RCV001078430 RCV001078263 RCV001078381 RCV001078382 RCV001078328 RCV001078262 RCV001078292 RCV001078422 RCV001078420 RCV001078293 RCV001078366 RCV001078359 RCV001078294 RCV001078316 RCV001078259 RCV001078253 RCV001078274 RCV001078351 RCV001078277 RCV001078378 RCV001078377 RCV001078260 RCV001078295 RCV001078338 RCV001078339 RCV001078340 RCV001078341 RCV001078342 RCV001078346 RCV001078394 RCV001078267 RCV001078324 RCV001078270 RCV001078427 RCV001078425 RCV001078423 RCV001078255 RCV001078385 RCV001078281	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Beta thalassemia intermedia	Likely pathogenic; Pathogenic	rs35724775, rs33913413, rs34883338, rs33941377, rs33981098, rs33925391, rs36015961, rs34999973, rs34809925, rs34527846	RCV005406746 RCV000029987 RCV000589915 RCV000029951 RCV001255596 RCV001260263 RCV000016775 RCV000202364 RCV002265766 RCV001797592 RCV003317048 RCV002222330	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Beta zero thalassemia	Pathogenic; Likely pathogenic	rs33986703, rs11549407, rs63750783, rs33974936, rs33922842, rs33995148, rs33982568, rs35497102, rs35662066, rs80356820, rs80356821, rs63749819, rs33969853, rs281864901, rs34889882, rs34856846, rs267607297, rs41443947, rs35383398, rs63750099, rs34533941, rs36107977, rs63751201, rs63750532, rs35532010, rs1554917888, rs33941849, rs33971440, rs33945777, rs1554918032, rs193922563, rs63751076, rs33943001, rs34451549, rs33913712, rs63750475, rs33952266, rs33930702, rs63751218, rs63750513, rs35477349, rs33914668, rs35225141, rs35699606, rs33956879, rs35456885, rs33913413	RCV000016655 RCV000016656 RCV000016657 RCV000016659 RCV000016660 RCV000016661 RCV000016662 RCV000016669 RCV000016670 RCV000016671 RCV000016673 RCV000016674 RCV000016675 RCV000016676 RCV000016678 RCV000016679 RCV000016680 RCV000016681 RCV000016683 RCV000016684 RCV000016685 RCV000016686 RCV000016687 RCV000016688 RCV000016689 RCV000016690 RCV000016691 RCV000016694 RCV000016695 RCV000016696 RCV000016699 RCV000016700 RCV000016703 RCV000016704 RCV000016716 RCV000016766 RCV000016770 RCV000016774 RCV000016783 RCV000016826 RCV000016828 RCV000016829 RCV000016702 RCV000016701 RCV000016668 RCV000016769 RCV000016672 RCV000016692 RCV003991531 RCV000016739 RCV000736022 RCV000016713 RCV000016767 RCV000016697	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Beta-Knossos-thalassemia	Pathogenic	rs35424040	RCV000016441	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Beta-Malay-thalassemia	Pathogenic	rs33972047	RCV000016481	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Beta-plus-thalassemia	Pathogenic; Likely pathogenic	rs33950507, rs35424040, rs33972047, rs35256489, rs34502690, rs33931779, rs33915217, rs35724775, rs33913413, rs35004220, rs34690599, rs33951465, rs33944208, rs63751208, rs34883338, rs33941377, rs33994806, rs33981098, rs33980857, rs34598529, rs33931746, rs33985472, rs281864532, rs2494291485, rs33941844, rs63751128, rs35949130, rs34999973, rs33978907, rs34305195, rs35328027, rs34527846, rs281865475, rs1847587286	RCV000016330 RCV000016440 RCV000016480 RCV000016599 RCV000016665 RCV000016666 RCV000016705 RCV000016706 RCV000016707 RCV000016708 RCV000016709 RCV000016712 RCV000016715 RCV000016717 RCV000016718 RCV000016719 RCV000016720 RCV000016722 RCV000016723 RCV000016724 RCV000016725 RCV000016727 RCV000016728 RCV000016729 RCV000016731 RCV000016732 RCV000016733 RCV000016747 RCV000016748 RCV000016768 RCV000016778 RCV000016853 RCV000016883 RCV000016721 RCV001838527 RCV000016714 RCV000016730 RCV000016710 RCV002280785 RCV002280787 RCV000016726	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Beta-plus-thalassemia, dominant	Pathogenic	rs33910569	RCV000022611	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Beta-Showa-Yakushiji thalassemia	Pathogenic	rs35256489	RCV000016600	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Beta-thalassemia HBB/LCRB	Likely pathogenic; Pathogenic	rs2133588176, rs34083951, rs33930165, rs33946267, rs33950507, rs33960103, rs35424040, rs33940204, rs35256489, rs33954264, rs33986703, rs11549407, rs63750783, rs33922842, rs35497102, rs35662066, rs80356820, rs80356821, rs63749819, rs33969853, rs34889882, rs33941849, rs33971440, rs33945777, rs193922563, rs33915217, rs35724775, rs33913413, rs35004220, rs34690599, rs63751208, rs33994806, rs34598529, rs33931746, rs33985472, rs33925391, rs63751128, rs34999973, rs35699671, rs33944208, rs613985, rs33943001, rs63750513, rs33941377, rs34305195, rs34282684, rs193922555, rs35699606, rs33978907, rs63749960, rs33956879, rs33952266, rs1554918165, rs1554917947, rs35456885, rs35684407, rs35133315	RCV002465869 RCV003447721 RCV002288494 RCV005229799 RCV002288495 RCV003338382 RCV005623063 RCV003137530 RCV004689418 RCV005434604 RCV002288498 RCV002288499 RCV003985073 RCV005430462 RCV004795419 RCV002288500 RCV003227603 RCV004821260 RCV002465488 RCV004566746 RCV004795420 RCV004566747 RCV005430107 RCV002288501 RCV004689419 RCV002288502 RCV002465489 RCV002288503 RCV005430463 RCV005867761 RCV004566748 RCV005430464 RCV002288504 RCV002288505 RCV004566749 RCV004689420 RCV005867762 RCV005430108 RCV004795422 RCV005430109 RCV005430465 RCV004566750 RCV002288506 RCV004786267 RCV005430536 RCV005624647 RCV005624648 RCV004689769 RCV004696927 RCV005430466 RCV005430467 RCV005430469 RCV002288523 RCV003221786 RCV002465492 RCV004566754 RCV005430110 RCV004689430 RCV005430471 RCV005430111 RCV005430580 RCV005430438 RCV005430687 RCV004568488 RCV004689867 RCV004689989	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Beta-thalassemia major	Pathogenic; Likely pathogenic	rs33960103, rs33915217, rs35004220, rs34451549, rs33914668, rs33943001, rs1847513733	RCV001794452 RCV001794453 RCV000030008 RCV000029984 RCV001290616 RCV001375484 RCV001261502	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Beta-thalassemia, lermontov type	Pathogenic	rs33941849	RCV000016693	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dominant beta-thalassemia	Pathogenic; Likely pathogenic	rs2494292030, rs33971634, rs33930165, rs33950507, rs34945623, rs33946267, rs80356820, rs80356821, rs34889882, rs34533941, rs33971440, rs33945777, rs33915217, rs34690599, rs36015961, rs33930702, rs35485099, rs281865477, rs193922553, rs35133315, rs35348864	RCV001549283 RCV003226537 RCV005357128 RCV005357129 RCV005417431 RCV000016658 RCV001723571 RCV006436387 RCV005000984 RCV002513069 RCV004819209 RCV001723572 RCV004814907 RCV002272021 RCV001731305 RCV002222353 RCV005417433 RCV001731306 RCV000029967 RCV001809980 RCV001732037	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Erythrocytosis	Likely pathogenic	rs1141387	RCV000016552	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Erythrocytosis, familial, 6	Pathogenic; Likely pathogenic	rs33937393, rs35020585, rs33959340, rs33949869, rs33965000, rs33972593, rs33966487, rs33971048, rs33954264, rs33917628, rs35067717, rs33987903, rs33961444, rs33954595, rs36020563, rs34515413, rs35291591, rs35890959, rs33929459, rs1141387, rs35209591, rs33991993, rs35117167, rs34980264, rs33969677, rs33918338, rs35351128, rs33951978, rs33971440, rs33945777, rs35724775, rs35004220, rs34690599	RCV000641405 RCV000641406 RCV000641409 RCV000641411 RCV000641413 RCV000641416 RCV000641420 RCV000641428 RCV000641431 RCV000641434 RCV000641462 RCV000641463 RCV000641470 RCV000641476 RCV000641495 RCV000641506 RCV000641527 RCV000641529 RCV000641556 RCV000641570 RCV000641578 RCV000641589 RCV000641582 RCV000641585 RCV000641593 RCV000641598 RCV000641604 RCV000641606 RCV000641613 RCV000641619 RCV000641622 RCV000641624 RCV000641629 RCV000641630 RCV005357131 RCV005357132 RCV005357133 RCV005357134 RCV005357135 RCV001839458	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fetal hemoglobin quantitative trait locus 1	Likely pathogenic; Pathogenic	rs80356821, rs33971440, rs35004220	RCV001262999 RCV001329338 RCV001262998	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hb D-Los Angeles	Likely pathogenic; Pathogenic	rs33946267	RCV000016317	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hb SS disease	Likely pathogenic; Pathogenic	rs33930165, rs33946267, rs33950507, rs33960103, rs35424040, rs35256489, rs33986703, rs11549407, rs63750783, rs33922842, rs35497102, rs80356821, rs63749819, rs34889882, rs63750532, rs35532010, rs33941849, rs33971440, rs33945777, rs33915217, rs35724775, rs35004220, rs34690599, rs34451549, rs33951465, rs33931746, rs33914668, rs33941377, rs35699606, rs33978907	RCV000202507 RCV000202465 RCV000202534 RCV001004351 RCV001004353 RCV000202511 RCV001004561 RCV001004355 RCV001004570 RCV001004356 RCV001004560 RCV001004568 RCV001004358 RCV001004569 RCV001004359 RCV001004360 RCV001004345 RCV001004352 RCV001004361 RCV001004350 RCV001004349 RCV001004566 RCV001004348 RCV001004347 RCV001004346 RCV001004564 RCV001004565 RCV001004354 RCV001004363 RCV001004362 RCV001004562 RCV001004365 RCV001004357 RCV001004557	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HBB-related disorder	Pathogenic; Likely pathogenic	rs33940204, rs33930165, rs33946267, rs33950507, rs33960103, rs11549407, rs35497102, rs35662066, rs80356821, rs34889882, rs33971440, rs33915217, rs35724775, rs33913413, rs34690599, rs34451549, rs63751208, rs34999973, rs35225141, rs35699606	RCV004724745 RCV003335041 RCV000778329 RCV004532365 RCV004732545 RCV004532366 RCV004732546 RCV004532367 RCV004532368 RCV004541006 RCV004532369 RCV004732547 RCV004532370 RCV004528115 RCV004732548 RCV004532371 RCV004532372 RCV002260510 RCV006270388 RCV000368084	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Heinz body anemia	Likely pathogenic; Pathogenic	rs33930165, rs33946267, rs33950507, rs34378160, rs35849199, rs33933298, rs33916412, rs11549407, rs35724775, rs34598529	RCV001813746 RCV002247348 RCV005357129 RCV000016373 RCV000016393 RCV000016446 RCV000016612 RCV002221479 RCV002247349 RCV002247350	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HEMOGLOBIN ABRAHAM LINCOLN	Pathogenic	rs33948578	RCV000016547	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN ABRUZZO	Likely pathogenic; Pathogenic	rs33918338	RCV000016243	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN ALBERTA	Pathogenic	rs33937393	RCV000016247	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN ALESHA	Pathogenic	rs36008922	RCV000016801	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN ANDREW-MINNEAPOLIS	Pathogenic	rs35020585	RCV000016249	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN ARTA	Likely pathogenic	rs33978338	RCV000016812	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN BARCELONA	Pathogenic	rs33959340	RCV000016258	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN BETHESDA	Pathogenic	rs33949869	RCV000016267	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN BORAS	Pathogenic	rs33940204	RCV000016262	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN BRESCIA	Likely pathogenic; Pathogenic	rs36015961	RCV000016776	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN BRIGHAM	Pathogenic	rs33965000	RCV000016271	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN BRISBANE	Pathogenic	rs33972593	RCV000016272	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN BRISTOL	Pathogenic	rs36008922	RCV000016276	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN BRITISH COLUMBIA	Pathogenic	rs33966487	RCV000016274	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN C	Likely pathogenic; Pathogenic	rs33930165	RCV000016284	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN CAGLIARI	Pathogenic	rs33931779	RCV000016667	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN CHEMILLY	Pathogenic	rs33971048	RCV000016297	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN CHIBA	Pathogenic	rs34378160	RCV000016372	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN CHICO	Likely pathogenic	rs35939489	RCV000016299	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN COWTOWN	Pathogenic	rs33954264	RCV000016307	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN CRETEIL	Likely pathogenic; Pathogenic	rs33917628	RCV000016310	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemoglobin D disease	Likely pathogenic; Pathogenic	rs33946267	RCV001175348	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN DIEPPE	Pathogenic	rs33910569	RCV000016802	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN DRENTHE	Pathogenic	rs33954632	RCV000016639	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN DURHAM-N.C.	Likely pathogenic; Pathogenic	rs36015961	RCV000016777	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemoglobin E	Pathogenic	rs33950507	RCV000016329	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemoglobin E disease	Pathogenic	rs33950507	RCV000778330	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemoglobin E/beta thalassemia disease	Pathogenic	rs33950507	RCV000016331	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemoglobin E/beta- thalassemia	Pathogenic	rs33950507, rs33915217	RCV005252683 RCV005252684	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN EGYPT	Likely pathogenic; Pathogenic	rs33946267	RCV000016525	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN GENOVA	Pathogenic	rs33916412	RCV000016362	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN GREAT LAKES	Pathogenic	rs33972593	RCV000016273	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN HAMMERSMITH	Pathogenic	rs34378160	RCV000016371	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN HANA	Pathogenic	rs33922873	RCV000855777	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN HEATHROW	Pathogenic	rs35067717	RCV000016375	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN HELSINKI	Pathogenic	rs33987903	RCV000016376	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN HIROSHIMA	Pathogenic	rs33961444	RCV000016383	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN HOTEL-DIEU	Pathogenic	rs33971048	RCV000016388	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN HYOGO	Pathogenic	rs33916412	RCV000016363	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN INDIANAPOLIS	Pathogenic	rs35849199	RCV000016392	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN JOHNSTOWN	Pathogenic	rs33969677	RCV000016428	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN KEMPSEY	Pathogenic	rs33954595	RCV000016436	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN KNOSSOS	Pathogenic	rs35424040	RCV000016439	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN KOBE	Pathogenic	rs33948578	RCV000016548	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN KOREA	Pathogenic	rs35699671	RCV000016797	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN LEIDEN	Likely pathogenic	rs63750928	RCV000016452	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN LUFKIN	Likely pathogenic	rs35685286	RCV000016460	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN M (AKITA)	Pathogenic	rs33924775	RCV000016465	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN M (HYDE PARK)	Pathogenic	rs33924775	RCV000016464	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN M (MILWAUKEE 1)	Pathogenic	rs33918343	RCV000016462	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN M (MILWAUKEE 2)	Pathogenic	rs33924775	RCV000016463	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN M (RADOM) METHEMOGLOBINEMIA, BETA TYPE	Pathogenic	rs33922873	RCV000641524	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN M (SASKATOON)	Pathogenic	rs33922873	RCV000016466	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN MADRID	Pathogenic	rs34945623	RCV000016478	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN MALAY	Pathogenic	rs33972047	RCV000016479	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN MALMO	Pathogenic	rs34515413	RCV000016482	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN MANHATTAN	Pathogenic	rs63751201	RCV002284171	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN MCKEES ROCKS	Pathogenic	rs35291591	RCV000016489	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN MIZUHO	Likely pathogenic	rs33972593	RCV000016497	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN N (TIMONE)	Pathogenic	rs33926764	RCV000016511	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN O (ARAB)	Likely pathogenic; Pathogenic	rs33946267	RCV000016524	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN OLYMPIA	Likely pathogenic; Pathogenic	rs35890959	RCV000016533	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN PALMERSTON NORTH	Pathogenic	rs33929459	RCV000016544	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN PERTH	Pathogenic	rs33948578	RCV000016546	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN PIERRE-BENITE	Pathogenic	rs35002698	RCV000016551	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN POTOMAC	Pathogenic	rs35209591	RCV000016557	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN PROVIDENCE	Pathogenic	rs33991993	RCV000016559	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN PUTTELANGE	Pathogenic	rs33927093	RCV000016811	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN RADCLIFFE	Pathogenic	rs33971048	RCV000016555	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN RAHERE	Pathogenic	rs33987903	RCV000016561	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN RAINIER	Pathogenic	rs35117167	RCV000016562	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN ROCKFORD	Likely pathogenic; Pathogenic	rs33961459	RCV000016880	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN SABINE	Pathogenic	rs33917785	RCV000016581	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN SAINT ETIENNE	Pathogenic	rs34083951	RCV000016395	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN SAINT JACQUES	Pathogenic	rs34980264	RCV000016582	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN SAN DIEGO	Pathogenic	rs33969677	RCV000016585	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN SANTA ANA	Likely pathogenic; Pathogenic	rs33940204	RCV000016586	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN SHANGHAI	Likely pathogenic	rs33950778	RCV000016592	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN SHOWA-YAKUSHIJI	Pathogenic	rs35256489	RCV000016598	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN ST. LOUIS	Pathogenic	rs33916412	RCV000016611	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN SYRACUSE	Pathogenic	rs33918338	RCV000016616	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN TERRE HAUTE	Pathogenic	rs33941844	RCV000016746	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN VANDERBILT	Pathogenic	rs35351128	RCV000016635	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN VOLGA	Pathogenic	rs33954632	RCV000016638	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN WOOD	Likely pathogenic	rs33951978	RCV000016643	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN YAKIMA	Pathogenic	rs33954595	RCV000016644	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN YORK	Pathogenic	rs33954264	RCV000016648	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOGLOBIN YPSILANTI	Pathogenic	rs33954595	RCV000016650	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemoglobinopathy	Likely pathogenic; Pathogenic	rs2133588679, rs2494297181, rs2494296091, rs2494292407, rs35693898, rs34160180, rs33916412, rs35424040, rs33933298, rs33966761, rs35890959, rs35002698, rs33969677, rs33985544, rs33974936, rs33922842, rs35662066, rs34856846, rs35383398, rs63750532, rs35532010, rs63751076, rs33944208, rs33925391, rs63751128, rs33924775, rs35485099, rs36008922, rs33927093, rs2494297176, rs34704828, rs63750513, rs34563000, rs33950507, rs63750128, rs1564874901, rs33949869, rs35395625, rs35133315, rs33979901, rs1847589398, rs63750320	RCV001420858 RCV003317770 RCV003324392 RCV003489626 RCV000016279 RCV000016337 RCV001731302 RCV000780311 RCV000016443 RCV000016521 RCV004799743 RCV003387724 RCV001553627 RCV003987323 RCV000781456 RCV000780310 RCV000590756 RCV000781438 RCV000780312 RCV000781455 RCV000780308 RCV003317038 RCV000781453 RCV000016741 RCV001193152 RCV000016756 RCV000016791 RCV005055517 RCV003234910 RCV003994949 RCV000781439 RCV000781451 RCV000780315 RCV000780324 RCV000781460 RCV001193151 RCV001251374 RCV000781441 RCV000780313 RCV001420867 RCV001293624 RCV001420874 RCV001193150	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hemolytic anemia	Pathogenic	rs33924146	RCV000016458 RCV000016590	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Pathogenic	rs63750774	RCV005866799	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary persistence of fetal hemoglobin	Likely pathogenic; Pathogenic	rs33930165, rs33950507, rs80356821, rs33915217	RCV003137529 RCV005229800 RCV005229805 RCV003445071	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inherited hemoglobinopathy	Likely pathogenic; Pathogenic	rs33930165	RCV004017254	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malaria, resistance to	Likely pathogenic; Pathogenic	rs33930165, rs33950507	RCV000016285 RCV000016332	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malaria, susceptibility to	Pathogenic; Likely pathogenic	rs33950507, rs35424040, rs11549407, rs35497102, rs80356820, rs33945777, rs193922563, rs33915217, rs35724775, rs35004220, rs63751208, rs35699606	RCV003989105 RCV003992156 RCV003987324 RCV003989287 RCV004813042 RCV003987325 RCV003989288 RCV003987326 RCV003988822 RCV003989289 RCV003989290 RCV003989106	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
METHEMOGLOBINEMIA, BETA TYPE	Pathogenic	rs33918343, rs33924775, rs33922873, rs33941844	RCV000641512 RCV000641516 RCV005429213 RCV000016630 RCV005208152	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic	rs33956879	RCV005888729 RCV005897320	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sickle cell-hemoglobin C disease	Likely pathogenic; Pathogenic	rs33930165	RCV003150807	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sickle cell-Hemoglobin O Arab disease	Likely pathogenic; Pathogenic	rs33946267	RCV000587075	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thymoma	Pathogenic	rs33914668	RCV005887591	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANEMIA, HEMOLYTIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, HEMOLYTIC, CONGENITAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, SICKLE CELL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATYPICAL HEMOLYTIC UREMIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT SECONDARY POLYCYTHEMIA	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETA PLUS THALASSEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETA THALASSEMIA, DOMINANT INCLUSION BODY TYPE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETA-THALASSEMIA	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETA-THALASSEMIA INTERMEDIA	—	CTD, Orphanet CTD, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLADDER CALCULUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHLORACNE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital anemia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COOLEYS ANEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYANOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DELTA-BETA THALASSEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Delta-beta-thalassemia	Uncertain significance	ClinVar GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DIABETIC NEPHROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HEMOLYTIC ANEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN 'T LANGE LAND	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN AALBORG	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN AGENOGI	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN ALABAMA	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN ALAMO	other; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN ALTDORF	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN ANKARA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN ANTALYA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN ATHENS-GEORGIA	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN ATLANTA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN ATLANTA-COVENTRY	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN AUBAGNE	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN AURORA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN AUSTIN	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN AVICENNA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BAB-SAADOUN	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BADEN	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BARBIZON	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BAYLOR	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BECKMAN	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BEIRUT	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BELFAST	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BEOGRAD	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BETH ISRAEL	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BICETRE	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BIRMINGHAM	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BOLOGNA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BOLOGNA-ST. ORSOLA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BOUGARDIREY-MALI	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BREM-SUR-MER	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BREST	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BRIE COMTE ROBERT	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BROCKTON	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BUNBURY	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BURKE	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BUSHEY	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BUSHWICK	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN BUZEN	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN C DISEASE	—	Disgenet, HPO, Orphanet Disgenet, HPO, Orphanet Disgenet, HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN C-BETA-THALASSEMIA SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN CALAIS	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN CAMDEN	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN CAMPERDOWN	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN CANTERBURY	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN CARDARELLI	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN CARIBBEAN	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN CASPER	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN CASTILLA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN CHANDIGARH	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN CHESTERFIELD	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN CHEVERLY	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN CHILE	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN CHRISTCHURCH	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN CITY OF HOPE	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN COCHIN-PORT ROYAL	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN COCODY	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN COIMBRA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN COLIMA	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN COLLINGWOOD	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN COMPLUTENSE	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN CONNECTICUT	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN COSTA RICA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN COVENTRY	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN CRANSTON	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN CRETE	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN D (BUSHMAN)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN D (CAMPERDOWN)	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN D (GRANADA)	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN D (IBADAN)	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN D (IRAN)	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN D (NEATH)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN D (OULED RABAH)	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN DEACONESS	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN DEBROUSSE	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN DEER LODGE	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN DENVER	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN DETROIT	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN DJELFA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN DOHA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN DUARTE	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN E (SASKATOON)	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN E-BETA-THALASSEMIA SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN EDMONTON	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN ERNZ	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN EXTREMADURA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN F DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN FUKUOKA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN FUKUYAMA	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN G (ACCRA)	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN G (COPENHAGEN)	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN G (COUSHATTA)	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN G (FERRARA)	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN G (GALVESTON)	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN G (HSI-TSOU)	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN G (HSIN-CHU)	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN G (MAKASSAR)	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN G (PORT ARTHUR)	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN G (SAN JOSE)	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN G (SASKATOON)	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN G (SZUHU)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN G (TAEGU)	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN G (TAIPEI)	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN G (TAIWAN-AMI)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN G (TEXAS)	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN GAINESVILLE-GA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN GALICIA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN GAVELLO	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN GEELONG	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN GELDROP ST. ANNA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN GIFU	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN GRANGE-BLANCHE	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN GRAZ	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN GUN HILL	other; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN HACETTEPE	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN HAFNIA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN HAKKARI	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN HAMADAN	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN HAMILTON	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN HARROW	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN HAZEBROUCK	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN HENRI MONDOR	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN HIGASHITOCHIGI	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN HIJIYAMA	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN HIKARI	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN HIMEJI	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN HINSDALE	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN HINWIL	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN HIROSE	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN HOFU	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN HOKUSETSU	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN HOPKINS 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN HOWICK	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN HT	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN I (HIGH WYCOMBE)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN ILMENAU	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN IOWA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN IRAQ-HALABJA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (ALTGELD GARDENS)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (AMIENS)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (ANTAKYA)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (AUCKLAND)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (BALTIMORE)	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (BARI)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (CAIRO)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (CALABRIA)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (CHICAGO)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (CORDOBA)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (COSENZA)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (DALOA)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (EUROPA)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (GUANTANAMO)	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (IRAN)	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (LENS)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (LOME)	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (LUHE)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (SICILIA)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN J (TAICHUNG)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN JACKSONVILLE	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN JENKINS	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN JIANGHUA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN JINAN	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN K (CAMEROON)	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN K (IBADAN)	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN K (WOOLWICH)	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN KARLSKOGA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN KENITRA	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN KENWOOD	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN KHARTOUM	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN KODAIRA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN KODAIRA II	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN KOFU	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN KORLE-BU	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN LA CORUNA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN LA DESIRADE	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN LA ROCHE-SUR-YON	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN LAS PALMAS	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN LESLIE	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN LIMASSOL	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN LINKOPING	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN LUCKNOW	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN LYON	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN M DISEASE	—	ClinGen, Disgenet, GWAS catalog, Orphanet ClinGen, Disgenet, GWAS catalog, Orphanet ClinGen, Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MACHIDA	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MANUKAU	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MAPUTO	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MARINEO	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MATERA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MEILAHTI	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MEQUON	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MINNEAPOLIS-LAOS	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MITO	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MIYASHIRO	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MOBILE	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MOLFETTA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MONT SAINT-AIGNAN	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MONTREAL	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MORIGUCHI	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MOSCVA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MOTOWN	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MOZHAISK	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MUSCAT	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN MUSKEGON	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN N (BALTIMORE)	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN N (JENKINS)	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN N (SEATTLE)	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN NAGASAKI	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN NAGOYA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN NAKANO	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN NEVERS	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN NEW MEXICO	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN NEWCASTLE	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN NIJKERK	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN NIKOSIA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN NITEROI	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN NORTH CHICAGO	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN NOTTINGHAM	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN OCHO RIOS	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN OHIO	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN OKALOOSA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN OKAYAMA	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN OKAZAKI	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN OLMSTED	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN OLOMOUC	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN P	other; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN P (GALVESTON)	other; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN PASADENA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN PETERBOROUGH	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN PHILLY	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN POCOS DE CALDAS	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN PORTO ALEGRE	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN PRESBYTERIAN	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN PYRGOS	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN QUIN-HAI	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN RALEIGH	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN RANCHO MIRAGE	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN RANDWICK	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN REGINA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN RENERT	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN RICHMOND	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN RIO CLARO	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN RIO GRANDE	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN RIVERDALE-BRONX	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN ROSEAU-POINTE A PITRE	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN ROTHSCHILD	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN RUSH	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SAALE	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SAGAMI	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SAINT NAZAIRE	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SAITAMA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SAKI	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SANTA CLARA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SANTANDER	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SARREBOURG	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SAVANNAH	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SAVERNE	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SC DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SD DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SEATTLE	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SHELBY	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SHEPHERDS BUSH	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SHERWOOD FOREST	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SILVER SPRINGS	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SITIA	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SOGN	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SOUTH FLORIDA	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SOUTH MILWAUKEE	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SOUTHAMPTON	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SPARTA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN ST. ANTOINE	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN ST. FRANCIS	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN ST. MANDE	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN STANMORE	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN STRASBOURG	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SUMMER HILL	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SUNNYBROOK	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN SYDNEY	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN TA-LI	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN TAK	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN TAKAMATSU	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN TAMPA	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN TENDE	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN TIANSHUI	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN TIGRAYE	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN TILBURG	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN TIZI-OUZOU	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN TOCHIGI	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN TOKUCHI	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN TOURS	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN TOYOAKE	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN TRENTO	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN TRIPOLI	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN TROLLHAETTAN	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN TSUKUMI	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN TSURUMAI	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN TUNIS	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN TY GARD	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN TYNE	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN VAASA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN VALLETTA	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN VANCOUVER	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN VICKSBURG	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN VILA REAL	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN VILLAVERDE	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN VILLEJUIF	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN WARWICKSHIRE	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN WASHTENAW	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN WATFORD	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN WIEN	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN WILLAMETTE	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN WINDSOR	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN YAHATA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN YAIZU	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN YAMAGATA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN YAOUNDE	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN YATSUSHIRO	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN YOKOHAMA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN YOSHIZUKA	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN YUSA	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN ZENGCHENG	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN ZOETERWOUDE	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBINOPATHIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE NEPHROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy 26	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEPORE-BETA-THALASSEMIA SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHEMOGLOBINEMIA	—	CTD, Disgenet CTD, 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
SICKLE CELL ANEMIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPLENOMEGALY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thalassemia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
THALASSEMIA INTERMEDIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THALASSEMIA-HEMOGLOBIN C DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES NEPHROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNSTABLE BETA GLOBIN CHAIN VARIANT DISEASE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNSTABLE HEMOGLOBIN DISEASE	—	ClinGen, Disgenet, GenCC ClinGen, Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Achromatopsia	Achromatopsia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	10891470, 1379916, 1693523, 1936553, 21970403, 2333288, 25713074, 2735651, 28165867, 2990298, 2991858, 3288863, 6151696, 6151697, 6578416, 6587773, 6595498, 6932030, 7530072, 8353292, 8413287, 8646553, 8663270		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	19465421		★☆☆☆☆ Found in Text Mining only
alpha Thalassemia	Alpha thalassemia	Pubtator	1276470, 1932755, 28901454, 2988669, 40441082, 873928	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
alpha-Thalassemia	alpha Thalassemia	BEFREE	10803667, 10814985, 11042028, 11422410, 15946310, 18257074, 19852066, 21083035, 22322941, 27268459, 2992852, 3593648, 7532353, 8892730, 9136913, 9234571, 9723571, 9827907		★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	LHGDN	11833853, 17920577		★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
alpha^+^ Thalassemia	alpha Thalassemia	BEFREE	10803667, 10814985, 11042028, 15946310, 18257074, 21083035, 22322941, 27268459, 2992852, 3593648, 7532353, 8892730, 9136913, 9234571, 9723571, 9827907		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	32517787	Associate	★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	15956966		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	11325640, 15498721, 16728274, 16755567, 17768122, 18991654, 23457306, 24020406, 2408656, 24816238, 27581487, 30947625, 6153459, 7532353		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anemia	Anemia	Pubtator	17768122, 2018842, 22244832, 25307880, 2581637, 28154185, 31124399, 33772535, 34764282, 34789072, 35289581, 35667093, 9209003	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anemia	Anemia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anemia	Anemia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anemia Hemolytic	Hemolytic anemia	Pubtator	1586746, 16189162, 22028795, 31399060, 31406232, 39225257, 7860732	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic Congenital	Hemolytic anemia	Pubtator	2996663	Associate	★☆☆☆☆ Found in Text Mining only
Anemia hypochromic microcytic	Hypochromic microcytic anemia	Pubtator	39262298	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Macrocytic	Macrocytic anemia	Pubtator	39262298	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	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	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Diamond-Blackfan	Anemia	BEFREE	28434866		★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	BEFREE	22433173		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Hemolytic	Anemia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Hemolytic	Anemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Sickle Cell	Anemia	BEFREE	10373600, 10640943, 10694826, 10791557, 10814985, 10894546, 11172667, 11980733, 12555216, 12581188, 1281600, 1301951, 1320470, 1326716, 1346253, 14654057, 15040426, 15831669, 16004608, 16460044, 16567956, 16943853, 17038017, 17854302, 18385938, 18425480, 18991654, 19055867, 1973147, 1996558, 20737602, 20846340, 20938172, 21204041, 21264913, 21387457, 21490337, 22042865, 22199098, 22260316, 22301904, 22451622, 22479321, 22918118, 2296310, 23190149, 23465615, 23928856, 24163393, 24224700, 24290434, 24361300, 2441778, 2441779, 24685557, 24718623, 24880147, 25245091, 25702619, 25733580, 25748438, 26296885, 27022141, 27077770, 27406980, 27492747, 27501013, 27525524, 27636225, 27733558, 27820943, 28094851, 28105733, 28378932, 28379995, 28500860, 28530652, 28671346, 28672087, 28689691, 28760671, 28770911, 28800727, 28823762, 29046485, 29127676, 29127681, 29127682, 29157167, 29164808, 29222288, 29385701, 29447888, 29542687, 29610478, 29614633, 29614637, 29853423, 29879141, 30067082, 30067867, 30124006, 30198339, 30478714, 30514970, 30520510, 30616747, 30664257, 30674214, 30843001, 30879904, 31015205, 31076408, 31147717, 31255831, 31279229, 31483336, 31506286, 31634902, 31684693, 31762599, 31830127, 31842406, 31847604, 3608154, 6192443, 7517214, 7532353, 7624311, 7635951, 7671109, 8095305, 8608254, 8630419, 8892730, 8980265, 9236157, 9317195, 9668525, 9668537, 9766796, 9920754		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Sickle Cell	Anemia	LHGDN	11869935, 15153712		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Sickle Cell	Anemia	UNIPROT_DG	1195378, 13464827, 16001361, 24100324		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Sickle Cell	Anemia	GENOMICS_ENGLAND_DG	20067565		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Sickle Cell	Anemia	ORPHANET_DG	24361300		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Sickle Cell	Anemia	CLINVAR_DG	25023084, 25023085, 26275168		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Sickle Cell	Anemia	CTD_human_DG	29255069, 81926		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aneuploidy	Aneuploidy	Pubtator	31092881, 33216308	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	29439675	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	36341412	Associate	★☆☆☆☆ Found in Text Mining only
Arterial Occlusive Diseases	Arterial occlusive disease	Pubtator	24786126, 32172616, 34772994, 37190030	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	34326365, 37146352	Associate	★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	28031553		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	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	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
beta Thalassemia	beta Thalassemia	CLINVAR_DG	10367791, 10520021, 10606872, 10706767, 10776695, 10815781, 11001883, 11186264, 11480785, 11559932, 11570721, 1177278, 11857746, 11939510, 12144057, 12210807, 12368169, 12488606, 12709369, 12752111, 12779270, 12955718, 1301930, 13716727, 1374896, 1376298, 1390250, 1428943, 14555318, 14576320, 1463768, 14715623, 14734204, 1483699, 1515453, 1517107, 1517108, 1517110, 1517111, 15181845, 1520612, 15257926, 15278762, 15315794, 1545796, 15481885, 15654898, 15768552, 1581247, 1586746, 16044458, 16103715, 16114187, 16206199, 16291734, 1634236, 1634368, 16470532, 16821247, 1698102, 16987798, 17008283, 1705411, 17145605, 17278112, 1728311, 1734721, 17365006, 1740317, 17486493, 17486495, 17486505, 17565724, 17606453, 1769663, 17900295, 17949282, 17994378, 18056002, 18076350, 18096416, 18294253, 18339318, 18495504, 1850955, 1856830, 18603555, 18654889, 18694524, 18818920, 1897518, 18976160, 19000664, 19061217, 1917531, 19205970, 19254853, 19372376, 19429541, 19437135, 19460936, 19488752, 1954392, 19631632, 19657836, 1967205, 1971109, 1974422, 19843386, 1986379, 19960060, 2001456, 20035706, 2005117, 20113284, 20113289, 20132300, 2014803, 20395516, 20412082, 20437613, 2070092, 20704537, 20954261, 20975770, 21119755, 21228398, 2123063, 21232998, 21250876, 21333566, 21389146, 21417574, 21423179, 21509314, 21599435, 21704277, 21797702, 21797703, 21931510, 2200760, 22010933, 22028795, 2207008, 22074124, 22110956, 22122796, 22180324, 22188014, 22271886, 22335963, 22356097, 22563936, 22625666, 22675570, 22690826, 2272840, 22738610, 2283297, 2283303, 22851993, 22875618, 2291577, 22975760, 22981786, 22983591, 2306523, 23297836, 23321370, 23348723, 23383304, 2346726, 23510507, 23525874, 23590658, 23637309, 23651435, 23665927, 2375910, 2375912, 23812938, 23859443, 2393712, 24052702, 24052746, 24080465, 24086942, 24200214, 24265529, 24368026, 24369358, 2439149, 2446680, 2458145, 24616209, 24719849, 24828949, 24857915, 24880717, 25000193, 25016698, 25087612, 25089872, 25135424, 25155404, 2525253, 25332589, 25408857, 25480500, 25525159, 25525381, 25572186, 25617386, 2563949, 25677748, 2582106, 25825561, 25849334, 25856402, 25905082, 25976460, 26041423, 2606727, 26076395, 26076396, 26079343, 26097845, 26290351, 26291967, 26410419, 26877226, 26948378, 2703241, 27117567, 2713503, 27263053, 2736244, 27453201, 2775294, 27756326, 2822177, 2837728, 28643346, 28671035, 2875755, 2888754, 2897787, 2915972, 2917193, 2920213, 2987224, 2987809, 3006832, 3014870, 3021139, 3021607, 3408672, 3417300, 3457470, 3557998, 3671081, 3683554, 3780671, 3828533, 3957694, 4018033, 4078867, 4808644, 5672850, 6086605, 6101206, 6166632, 6188062, 6190800, 6264391, 6264477, 6280057, 6280138, 6292840, 6298782, 6308558, 6310991, 6457059, 6572978, 6583683, 6583702, 6585381, 6585831, 6714226, 6733281, 6826539, 6985481, 7076659, 7104238, 7137165, 7151176, 7177196, 7395858, 7522523, 7530406, 7558878, 7558879, 7599641, 7615400, 7632967, 7683931, 7759073, 7819068, 7852087, 7909640, 8094943, 8112743, 8118466, 8161774, 8172199, 8199027, 8257991, 8294201, 8330981, 8373896, 8435318, 8477263, 8619407, 8718703, 88735, 8874232, 8889595, 8978308, 8980256, 9028819, 9101288, 9113933, 9140720, 9160698, 9163586, 9225979, 9340427, 9342003, 9371531, 9401495, 9450794, 9560205, 9629504, 9875660, 9949622		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
beta Thalassemia	beta Thalassemia	BEFREE	10373600, 10602161, 10634824, 10793490, 10815781, 11012251, 11758688, 12060142, 12185378, 12210807, 12472595, 12480689, 12560342, 12746554, 12955718, 1362388, 1398296, 1427447, 14555318, 15256071, 15278762, 15315795, 1536956, 1550780, 15599663, 15609277, 15638828, 1586746, 15947092, 15967770, 16103715, 16139831, 16339679, 1643026, 16755567, 16956833, 1698102, 17008283, 17194662, 1720325, 1725229, 1765385, 18339318, 18379999, 18381244, 18392622, 18414926, 18425480, 1856830, 18650378, 19064120, 19141369, 19460936, 19486366, 19608680, 19609526, 1969846, 1971109, 19852066, 2001456, 20020819, 20649908, 20665635, 2071159, 21068433, 21239833, 21316031, 21390308, 21403433, 21704277, 21734726, 22413823, 2246900, 22479321, 22862814, 22896714, 2291578, 23211376, 2346726, 23491071, 23878091, 24020406, 24155235, 2439149, 2441779, 24816238, 25352644, 2542242, 25517294, 25892530, 26331357, 26612711, 27235732, 2738898, 27525524, 2775294, 27820943, 2822177, 2825812, 28603845, 2867271, 2875755, 28942539, 2898535, 2901867, 2903765, 29127682, 2915972, 29164808, 2920213, 29202846, 2921044, 29240028, 29295702, 29296892, 29482624, 29619482, 29853423, 2987224, 2992840, 2998970, 3005579, 3033668, 30395680, 30716678, 30830876, 3338791, 3359676, 3417300, 3593648, 3676110, 3763397, 3778823, 3799598, 3888410, 4018033, 461203, 5009120, 6086605, 6091904, 6150322, 6190800, 6201431, 6264391, 6280138, 6297530, 6308558, 6318113, 6329257, 6732811, 6733281, 6738712, 6821658, 6826735, 6895866, 6933479, 6985481, 6985483, 7218276, 7499303, 7504400, 7528532, 7530030, 7577658, 7669681, 7671109, 7803275, 7885837, 7907284, 7909640, 7927334, 8101733, 8103502, 8136278, 8199028, 8205005, 8270260, 8466489, 8698342, 8978308, 9234571, 9238682, 9401495, 9423815, 9544969, 9668525, 9792288, 9827907, 998617		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
beta Thalassemia	beta Thalassemia	LHGDN	11833853, 15153712, 15256071, 15315795, 15599663, 15609277, 16103715, 16466947, 17133428, 17486497, 17920577, 18071703, 18392622, 18473240, 18473248, 18759082		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
beta Thalassemia	beta Thalassemia	UNIPROT_DG	12144064, 12149194, 15481886, 2399911, 6166632, 7693620		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
beta Thalassemia	beta Thalassemia	CTD_human_DG	16755567, 23975182, 3021607, 6270663, 6280057, 88735		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
beta Thalassemia	Beta thalassemia	Pubtator	1932755, 9723583	Stimulate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
beta Thalassemia	beta Thalassemia	GENOMICS_ENGLAND_DG	20067565		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
beta Thalassemia	Beta thalassemia	Pubtator	23209183, 25892530, 30859773, 31280628, 40004059, 40179812	Inhibit	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Beta thalassemia intermedia	beta Thalassemia	BEFREE	10334122, 11877258, 1463768, 16304358, 16732578, 17516066, 26418075, 2987809, 30777047, 3207629, 7803275		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Beta thalassemia intermedia	beta Thalassemia	ORPHANET_DG	21886666		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Beta thalassemia intermedia	beta Thalassemia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Beta Thalassemia, Dominant Inclusion Body Type	beta Thalassemia	GENOMICS_ENGLAND_DG	20067565		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Beta Thalassemia, Dominant Inclusion Body Type	beta Thalassemia	ORPHANET_DG	21886666		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Beta Thalassemia, Dominant Inclusion Body Type	beta Thalassemia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Beta Thalassemia, Dominant Inclusion Body Type	beta Thalassemia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Beta-thalassemia intermedia	beta Thalassemia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETA-THALASSEMIA INTERMEDIA, DOMINANT	beta Thalassemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Beta-thalassemia major	beta Thalassemia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
beta^+^ Thalassemia	beta Thalassemia	BEFREE	10373600, 10602161, 10634824, 10793490, 10815781, 11012251, 11758688, 12060142, 12185378, 12210807, 12472595, 12560342, 12746554, 12955718, 1398296, 1427447, 14555318, 15256071, 15278762, 15315795, 1536956, 1550780, 15599663, 15609277, 15638828, 1586746, 15947092, 15967770, 16103715, 16339679, 1643026, 16755567, 16956833, 1698102, 17008283, 17194662, 1720325, 1765385, 18339318, 18379999, 18381244, 18392622, 18414926, 18425480, 1856830, 18650378, 19064120, 19141369, 19460936, 19486366, 19608680, 19609526, 1969846, 1971109, 19852066, 2001456, 20020819, 20649908, 20665635, 2071159, 21068433, 21239833, 21316031, 21390308, 21403433, 21704277, 21734726, 22413823, 2246900, 22479321, 22862814, 22896714, 2291578, 23211376, 2346726, 23491071, 23878091, 24020406, 24155235, 2439149, 25352644, 2542242, 25517294, 25892530, 26331357, 26612711, 2738898, 27525524, 2775294, 27820943, 2822177, 2825812, 28603845, 2867271, 2875755, 28942539, 2898535, 2903765, 29127682, 2915972, 29164808, 2920213, 29202846, 2921044, 29240028, 29295702, 29482624, 29619482, 29853423, 2987224, 2992840, 3005579, 3033668, 30395680, 30830876, 3338791, 3359676, 3417300, 3593648, 3676110, 3763397, 3778823, 3799598, 3888410, 4018033, 461203, 5009120, 6086605, 6091904, 6150322, 6190800, 6201431, 6264391, 6280138, 6297530, 6308558, 6318113, 6329257, 6732811, 6733281, 6738712, 6821658, 6826735, 6895866, 6933479, 6985481, 6985483, 7218276, 7499303, 7504400, 7528532, 7530030, 7577658, 7669681, 7671109, 7803275, 7885837, 7907284, 7909640, 7927334, 8101733, 8103502, 8136278, 8199028, 8205005, 8270260, 8466489, 8698342, 9234571, 9238682, 9401495, 9423815, 9544969, 9668525, 9792288, 9827907, 998617		★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
beta^0^ Thalassemia	beta Thalassemia	BEFREE	10331503, 10398311, 1351038, 1419783, 1482661, 15230640, 1571556, 16266911, 1719807, 17339197, 17894837, 18096416, 19346882, 1995096, 20844535, 21204041, 2276746, 2310691, 2440503, 2582366, 26771086, 2827815, 287080, 2917118, 2997715, 3006832, 3593968, 3689700, 3828530, 6089938, 6210198, 6270663, 6292840, 6457059, 6690987, 6927915, 6985481, 7151176, 7162987, 7680922, 7682618, 803101, 8251381, 8257991		★☆☆☆☆ Found in Text Mining only
beta^0^ Thalassemia	beta Thalassemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	7933176		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	24642708	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	8402619, 8595412		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	40462176	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	34320033	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	2704745, 36646975	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	28500252, 35052472	Associate	★☆☆☆☆ Found in Text Mining only
Carney Complex	Carney complex	Pubtator	38378484	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	21083035, 27268459		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholecystolithiasis	Pubtator	24265529	Associate	★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic hemolytic anemia	Hemolytic anemia	BEFREE	29046485, 31076408		★☆☆☆☆ Found in Text Mining only
Chronic hemolytic anemia	Hemolytic anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Classical phenylketonuria	Phenylketonuria	BEFREE	2004456		★☆☆☆☆ Found in Text Mining only
Clubfoot	Clubfoot	Pubtator	35292718	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24762493	Associate	★☆☆☆☆ Found in Text Mining only
Complement Component 3 Deficiency Autosomal Recessive	Complement component deficiency	Pubtator	2212005	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Methemoglobinemia	Congenital methemoglobinemia	Pubtator	15929117	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Methemoglobinemia	Congenital Methemoglobinemia	BEFREE	31267164		★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cooley`s anemia	Cooley`s Anemia	CTD_human_DG	16755567, 23975182, 3021607, 6270663, 6280057, 88735		★☆☆☆☆ Found in Text Mining only
Cooley`s anemia	Cooley`s Anemia	ORPHANET_DG	21886666		★☆☆☆☆ Found in Text Mining only
Cooley`s anemia	Cooley`s Anemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Critical Illness	Critical illness	Pubtator	39174791	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	28700535		★☆☆☆☆ Found in Text Mining only
Cyanosis	Cyanosis	Pubtator	34789072, 36867085	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Fibrosis	Cystic fibrosis	Pubtator	33357513, 9604756	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	8262525, 9604756		★☆☆☆☆ Found in Text Mining only
Dacryocystitis	Dacryocystitis	Pubtator	17362365	Associate	★☆☆☆☆ Found in Text Mining only
Delta-Beta Thalassemia	Delta-Beta Thalassemia	BEFREE	1419824, 1720325, 2798417, 2822174, 2875756, 2997283, 3179447, 3345345, 4000967, 6196781, 6208362, 6477837, 6839025, 7504402, 7510147, 7515719		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Delta-Beta Thalassemia	Delta-Beta Thalassemia	ORPHANET_DG	18932066		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Delta-beta-thalassemia	Delta-Beta Thalassemia	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
delta-Thalassemia	Delta-Thalassemia	BEFREE	6307432, 8205005		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30442076		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	GWASCAT_DG	31451708		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30442076		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	31213470, 32020779, 37876062	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	GWASCAT_DG	31451708		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	36339449	Associate	★☆☆☆☆ Found in Text Mining only
Distal myopathy Nonaka type	Distal myopathy	Pubtator	37797812	Inhibit	★☆☆☆☆ Found in Text Mining only
Dominant beta-thalassemia	beta Thalassemia	BEFREE	10651741, 15977037, 1659862, 2167124, 3401599, 8161774		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dominant beta-thalassemia	beta Thalassemia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dominant beta-thalassemia	beta Thalassemia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyskinesias	Dyskinesia	Pubtator	24468054	Associate	★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	37876062	Associate	★☆☆☆☆ Found in Text Mining only
Erythrocytosis familial, 1	Erythrocytosis	GENOMICS_ENGLAND_DG	15921161		★☆☆☆☆ Found in Text Mining only
Erythrocytosis familial, 1	Erythrocytosis	BEFREE	17952198, 24482100		★☆☆☆☆ Found in Text Mining only
ERYTHROCYTOSIS, FAMILIAL, 6	Erythrocytosis	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial erythrocytosis	Erythrocytosis	BEFREE	17952198		★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	21931690	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	17135308		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	31115504		★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	36002796	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease 0 Muscle	Glycogen storage disease	Pubtator	11564083, 16126871, 26292035, 26394108, 26771086, 28763119, 33903312, 461203, 6327288	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease XII	Glycogen storage disease	Pubtator	33887194	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	19149873	Associate	★☆☆☆☆ Found in Text Mining only
Hb H disease	Hemoglobin H disease	BEFREE	479366		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	24642708	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	28500252, 35346191, 39563337	Associate	★☆☆☆☆ Found in Text Mining only
Heinz Body Anemias	Anemia	GENOMICS_ENGLAND_DG	20067565		★☆☆☆☆ Found in Text Mining only
Heinz Body Anemias	Anemia	CTD_human_DG			★☆☆☆☆ 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
Hematological Disease	Hematological Disease	BEFREE	11172667, 21641240, 22042865, 22631043, 26156589, 27022141, 27132015, 27636225, 29296892, 30091793		★☆☆☆☆ Found in Text Mining only
Hemoglobin C Disease	Hemoglobin c disease	Pubtator	17160997, 25313792, 29609623, 33091040, 33874827, 36401470, 38110882, 6310991, 9034292	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemoglobin C Disease	Hemoglobin C Disease	ORPHANET_DG	21886666		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemoglobin C disease	Hemoglobin C Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemoglobin C-beta-thalassemia syndrome	Hemoglobin C-Beta-Thalassemia Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemoglobin D disease	Hemoglobin D Disease	ORPHANET_DG	11757720, 25332633		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemoglobin D disease	Hemoglobin D Disease	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemoglobin E disease	Hemoglobin E Disease	CLINVAR_DG	21732929, 22260787, 25370867, 26554862		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemoglobin E disease	Hemoglobin E Disease	ORPHANET_DG	21886666		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemoglobin E disease	Hemoglobin E Disease	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemoglobin E-beta-thalassemia syndrome	Hemoglobin E-Beta-Thalassemia Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemoglobin E/beta thalassemia disease	Thalassemia	ORPHANET_DG	21886666		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemoglobin E/beta thalassemia disease	Thalassemia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemoglobin F Disease	Hemoglobinopathy	BEFREE	10022837, 1571556, 16271016, 1689188, 1704267, 2276746, 23491071, 2427137, 24471888, 2450454, 2458313, 2478223, 28879539, 3179447, 6201431, 7510147, 7527242, 7535584, 7689901		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemoglobin F Disease	Hemoglobinopathy	CTD_human_DG	16755567, 23975182, 3021607, 6270663, 6280057, 88735		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemoglobin F Disease	Hemoglobinopathy	ORPHANET_DG	19050890		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemoglobin H Disease	Hemoglobin H Disease	BEFREE	11422410, 22433173, 24930900		★☆☆☆☆ Found in Text Mining only
Hemoglobin Lepore-beta-thalassemia syndrome	Hemoglobin Lepore-Beta-Thalassemia Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
HEMOGLOBIN M (RADOM) METHEMOGLOBINEMIA, BETA TYPE	HEMOGLOBIN M METHEMOGLOBINEMIA	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemoglobin M Disease	Hemoglobin m disease	Pubtator	33251782	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemoglobin M Disease	Hemoglobin M Disease	ORPHANET_DG	8416301		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemoglobin M disease	Hemoglobin M Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemoglobin SC Disease	Hemoglobin sc disease	Pubtator	26940952, 34418541, 36897914	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemoglobinopathies	Hemoglobinopathy	CLINVAR_DG	10081984, 10490144, 10815781, 10840054, 1117598, 11722417, 11857738, 11857746, 12144056, 12368169, 12403498, 12709369, 12752111, 12779277, 12955718, 1384315, 1428943, 14734204, 15108284, 1520612, 15315794, 1536956, 15481885, 15481896, 15761692, 1686262, 16987801, 17008283, 1769663, 17949282, 18096416, 1814858, 18294253, 18339318, 1850955, 18954999, 18976160, 19254853, 19429541, 19437135, 19460936, 19486366, 1974422, 1986379, 20113284, 20132300, 2014803, 2018842, 20309827, 20395516, 20437613, 20524821, 20704537, 21119755, 21389146, 21423179, 21523319, 21599435, 21797703, 22074124, 22239493, 22392582, 23321370, 23383304, 23590658, 24450243, 24828949, 25089872, 25332589, 25408857, 26372288, 26635043, 27207683, 27821015, 27828729, 28366028, 28603845, 2901867, 3006832, 3403716, 3457470, 3780671, 3942130, 3955238, 5059650, 5782115, 6086605, 6714226, 6733281, 6859036, 7158624, 7632967, 7860732, 8037185, 8081396, 8111050, 8199027, 8435318, 8619407, 8701949, 8980256, 9101280, 9101288, 9140720, 9401495, 9495372		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemoglobinopathies	Hemoglobinopathy	BEFREE	12185510, 15040423, 16139831, 16924651, 18498386, 18628088, 19429541, 19941736, 20008178, 20152403, 22028795, 22427201, 23590658, 24590875, 24880147, 25155936, 28379995, 28948115, 2998637, 2998970, 30124006, 30616747, 3120465, 31646622, 6300677, 8178823, 8980265		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemoglobinopathies	Hemoglobinopathy	Pubtator	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	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemoglobinopathies	Hemoglobinopathy	CTD_human_DG	5773089		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemolysis	Hemolysis	Pubtator	1586746, 26813021, 33776989, 34789072	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	17135308	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome	Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	19465421		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	31213470		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	16628732	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	24802353	Associate	★☆☆☆☆ Found in Text Mining only
Hypersplenism	Hypersplenism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	28500252	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	37876062	Associate	★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	Pubtator	37876062	Associate	★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	37876062	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	20836851	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	30195800		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intravascular hemolysis	Intravascular Hemolysis	BEFREE	29614633		★☆☆☆☆ Found in Text Mining only
Iron deficiency anemia	Iron deficiency anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	16800840, 3593648		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	39225257	Associate	★☆☆☆☆ Found in Text Mining only
Iron-Refractory Iron Deficiency Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	27650483	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	36117408	Inhibit	★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	31452252		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	17135308	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	17565724	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	20836851	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	10685647		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	19465421		★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	8402619, 8595412		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	31452252		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21204041, 24590875, 25748516, 26935297, 27832373		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	LHGDN	19149873		★☆☆☆☆ Found in Text Mining only
MELORHEOSTOSIS, ISOLATED	Melorheostosis	BEFREE	12661759, 2579380, 2748594, 6205764, 8628660, 8895689		★☆☆☆☆ Found in Text Mining only
Methemoglobinemia	Methemoglobinemia	CTD_human_DG	15929117		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methemoglobinemia	Methemoglobinemia	BEFREE	29127682		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methemoglobinemia	Methemoglobinemia	Pubtator	34789072, 38110882	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHEMOGLOBINEMIA, BETA TYPE	Methemoglobinemia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcytic hypochromic anemia (disorder)	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mucolipidosis II Alpha Beta	Mucolipidosis	Pubtator	7218276	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	16504146, 26809286	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	26809286, 29498007		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	35247584	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	24642708	Stimulate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	24642708	Stimulate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	8646553		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10037435, 2550179, 8595412		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	8202519		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	26809286		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29498007		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nonspherocytic hemolytic anemia	Hemolytic Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	26694100	Associate	★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	33061329	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	15771624, 34320033	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	23691506		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	19602117		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	19602117		★☆☆☆☆ Found in Text Mining only
Phenylketonurias	Phenylketonuria	BEFREE	2004456		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	36646975	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	CTD_human_DG	1117598, 7161106		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycythemia	Polycythemia	Pubtator	35052472	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycythemia Vera	Polycythemia vera	Pubtator	21355091	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycythemia Vera	Polycythemia Vera	CTD_human_DG	5773089		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Priapism	Priapism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37070095	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	17135308		★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	BEFREE	31646622		★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	Pubtator	31646622	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	33874827, 34326365	Associate	★☆☆☆☆ Found in Text Mining only
Renal carnitine transport defect	Renal Carnitine Transport Defect	BEFREE	25245091		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	10232687		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	40140352	Associate	★☆☆☆☆ Found in Text Mining only
Sicca Syndrome	Sjogren`s Syndrome	BEFREE	6204701		★☆☆☆☆ Found in Text Mining only
Sickle cell anemia	Sickle Cell Anemia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sickle cell-beta-thalassemia disease syndrome	Sickle Cell-Beta-Thalassemia Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Sickle cell-hemoglobin C disease syndrome	Sickle Cell-Hemoglobin Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Sickle cell-hemoglobin D disease syndrome	Sickle Cell-Hemoglobin Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Sickle cell-hemoglobin E disease syndrome	Sickle Cell-Hemoglobin Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Sickle cell-Hemoglobin O Arab disease	Sickle Cell-Hemoglobin O Arab Disease	CLINVAR_DG	1112610, 11179419, 1732017, 22975760, 24880717, 3859465, 5481775, 9834244		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spherocytosis Hereditary	Spherocytosis	Pubtator	33210974	Associate	★☆☆☆☆ Found in Text Mining only
Splenomegaly	Splenomegaly	Pubtator	24265529, 26771086, 9209003	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME	Spondylocarpotarsal Synostosis Syndrome	BEFREE	29383950		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	9698532		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	9231159	Associate	★☆☆☆☆ Found in Text Mining only
Stomatitis Aphthous	Aphthous stomatitis	Pubtator	34341431	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	36580209	Associate	★☆☆☆☆ Found in Text Mining only
Sweet Syndrome	Sweet Syndrome	BEFREE	6204701		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	6204701		★☆☆☆☆ Found in Text Mining only
Thalassemia	Thalassemia	Pubtator	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	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thalassemia	Thalassemia	Pubtator	12393543, 27067481	Inhibit	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thalassemia Intermedia	Thalassemia	BEFREE	15566365, 1571556, 16628732, 1725229, 17768122, 1985702, 21120615, 23776097, 2436649, 2473806, 26086873, 28385923, 6156119, 6297530		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thalassemia Intermedia	Thalassemia	CTD_human_DG	16755567, 23975182, 3021607, 6270663, 6280057, 88735		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thalassemia Minor	Thalassemia	CTD_human_DG	16755567, 23975182, 3021607, 6270663, 6280057, 88735		★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	15956966, 23691506	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	15956966	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	15956966		★☆☆☆☆ Found in Text Mining only
Trichothiodystrophy Syndromes	Trichothiodystrophy	BEFREE	11734544		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner syndrome	Pubtator	25366798	Associate	★☆☆☆☆ Found in Text Mining only
Unconjugated hyperbilirubinemia	Hyperbilirubinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	23349856	Associate	★☆☆☆☆ Found in Text Mining only