CYBB (cytochrome b-245 beta chain)

Gene

• Entrez ID: 1536
• Gene name: Cytochrome b-245 beta chain
• Gene symbol: CYBB
• Synonyms (NCBI Gene): AMCBX2, CGD, CGDX, GP91-1, GP91-PHOX, GP91PHOX, IMD34, NOX2, p91-PHOX
• Chromosome: X
• Chromosome location: Xp21.1-p11.4
• Summary: Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137854585	C>A,T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs137854586	G>A,C	Not-provided, pathogenic	Coding sequence variant, missense variant
rs137854587	C>T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs137854588	C>T	Pathogenic	Coding sequence variant, stop gained
rs137854589	G>A,C	Not-provided, pathogenic	Coding sequence variant, missense variant
rs137854590	G>A	Not-provided, pathogenic	Coding sequence variant, missense variant
rs137854591	A>G	Not-provided, pathogenic	Coding sequence variant, missense variant
rs137854592	C>T	Pathogenic	Coding sequence variant, stop gained
rs137854593	A>G	Not-provided, pathogenic	Coding sequence variant, missense variant
rs137854594	C>T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs137854595	C>A,T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs137854596	C>G	Not-provided, pathogenic	Coding sequence variant, missense variant
rs151344454	T>C	Pathogenic	Missense variant, coding sequence variant
rs151344474	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs151344481	C>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs151344482	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs151344497	A>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs151344498	A>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs193922445	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs193922446	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs193922448	G>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs193922449	G>T	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs193922450	C>A,T	Likely-pathogenic, likely-benign	Synonymous variant, missense variant, coding sequence variant
rs200129367	C>G,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs387906485	G>A,T	Pathogenic	Synonymous variant, coding sequence variant
rs387906486	CCG>GGT	Pathogenic	Stop gained, inframe indel, coding sequence variant
rs782424820	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs886039333	G>T	Pathogenic	Splice donor variant
rs886039334	G>T	Pathogenic	Stop gained, coding sequence variant
rs886039335	C>T	Pathogenic	Stop gained, coding sequence variant
rs886039336	A>T	Pathogenic	Splice acceptor variant
rs886039337	C>T	Pathogenic	Stop gained, coding sequence variant
rs886039338	G>A	Pathogenic	Stop gained, coding sequence variant
rs886039563	G>C	Pathogenic	Missense variant, coding sequence variant
rs886041191	->AGGG	Pathogenic	Frameshift variant, coding sequence variant
rs886041192	C>T	Pathogenic	Stop gained, coding sequence variant
rs886041193	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041194	->A	Pathogenic	Frameshift variant, coding sequence variant
rs886041195	G>A	Pathogenic	Stop gained, coding sequence variant
rs886041312	ATTA>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041582	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057517730	AGTG>-	Pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1057518579	A>C	Pathogenic	Splice acceptor variant
rs1057521937	A>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1064794086	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131691401	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691828	G>T	Pathogenic	Splice donor variant
rs1131691836	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1453468510	->T	Pathogenic	Stop gained, coding sequence variant
rs1556464116	TTTGTCATTGT>-	Likely-pathogenic	Coding sequence variant, splice donor variant
rs1556464542	GCTGGGGTTGAACGTCTTCCTCTTTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556464554	TCTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556464581	G>T	Likely-pathogenic	Splice donor variant
rs1556464882	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1556468360	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1556468363	->ACTT	Pathogenic	Frameshift variant, coding sequence variant
rs1556469197	C>T	Pathogenic	Stop gained, coding sequence variant
rs1556470775	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556470794	G>T	Pathogenic	Stop gained, coding sequence variant
rs1556471620	G>A	Likely-pathogenic	Splice acceptor variant
rs1556472628	->GTATGTGCTTTTACAGAATGTCTCTTTTTTTTCTGAATTCATGTCCTTTCCTGTAGGCCAATCACTTTGCTGTGCACCATGATGAGGAGAAAGATGTGATCACAGGCCTGAAACAAAAGACTTTGTATGGACGGCCCAACTGGGATAATGAATTCAAGACAATTGCAAGTCAACACCCTAAGTAAGGAGTCTGTCACCAAGATGTTTTTGAGGCTTGCATCTGCCTAAAGCGGCAGCCCCTATACATAT	Pathogenic	Intron variant, coding sequence variant, splice acceptor variant, splice donor variant
rs1556473078	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1556473119	G>A	Pathogenic	Missense variant, coding sequence variant
rs1569478551	T>C	Pathogenic	Intron variant
rs1569479943	G>A	Pathogenic	Coding sequence variant, stop gained
rs1569479953	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1569480031	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1569480333	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602173465	T>-	Likely-pathogenic	Splice donor variant
rs1602175016	G>A	Pathogenic	Intron variant
rs1602182150	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602183161	CC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1602183244	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1602183679	C>G	Pathogenic	Coding sequence variant, stop gained
rs1602183698	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1602184316	C>A	Pathogenic	Coding sequence variant, stop gained
rs1602185687	G>A	Likely-pathogenic	Splice acceptor variant
rs1602185766	C>T	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT438000	hsa-miR-34a-5p	Western blot	24393844
MIRT438000	hsa-miR-34a-5p	Western blot	24393844
MIRT668855	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT659210	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT659211	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT659209	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT659208	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT659207	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT659206	hsa-miR-3183	HITS-CLIP	23824327
MIRT659205	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT659204	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT659203	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT659202	hsa-miR-4469	HITS-CLIP	23824327
MIRT659201	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT659200	hsa-miR-4287	HITS-CLIP	23824327
MIRT659198	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT659199	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT668854	hsa-miR-6859-3p	HITS-CLIP	23824327
MIRT659197	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT659196	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT659195	hsa-miR-4774-3p	HITS-CLIP	23824327
MIRT659194	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT659193	hsa-miR-1282	HITS-CLIP	23824327
MIRT659210	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT659211	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT659209	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT659208	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT659207	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT659206	hsa-miR-3183	HITS-CLIP	23824327
MIRT659205	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT659204	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT659203	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT659202	hsa-miR-4469	HITS-CLIP	23824327
MIRT659201	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT659200	hsa-miR-4287	HITS-CLIP	23824327
MIRT659198	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT659199	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT659197	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT659196	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT659195	hsa-miR-4774-3p	HITS-CLIP	23824327
MIRT659194	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT659193	hsa-miR-1282	HITS-CLIP	23824327
MIRT668855	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT659210	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT659211	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT659209	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT659208	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT659207	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT659206	hsa-miR-3183	HITS-CLIP	23824327
MIRT659205	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT659204	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT659203	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT659202	hsa-miR-4469	HITS-CLIP	23824327
MIRT659201	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT659200	hsa-miR-4287	HITS-CLIP	23824327
MIRT659198	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT659199	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT668854	hsa-miR-6859-3p	HITS-CLIP	23824327
MIRT659197	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT659196	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT659195	hsa-miR-4774-3p	HITS-CLIP	23824327
MIRT659194	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT659193	hsa-miR-1282	HITS-CLIP	23824327
MIRT659210	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT659211	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT659209	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT659208	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT659207	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT659206	hsa-miR-3183	HITS-CLIP	23824327
MIRT659205	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT659204	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT659203	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT659202	hsa-miR-4469	HITS-CLIP	23824327
MIRT659201	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT659200	hsa-miR-4287	HITS-CLIP	23824327
MIRT659198	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT659199	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT659197	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT659196	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT659195	hsa-miR-4774-3p	HITS-CLIP	23824327
MIRT659194	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT659193	hsa-miR-1282	HITS-CLIP	23824327
MIRT919804	hsa-miR-10a	CLIP-seq
MIRT919805	hsa-miR-10b	CLIP-seq
MIRT919806	hsa-miR-1207-5p	CLIP-seq
MIRT919807	hsa-miR-1245b-3p	CLIP-seq
MIRT919808	hsa-miR-1267	CLIP-seq
MIRT919809	hsa-miR-1298	CLIP-seq
MIRT919810	hsa-miR-1323	CLIP-seq
MIRT919811	hsa-miR-200b	CLIP-seq
MIRT919812	hsa-miR-200c	CLIP-seq
MIRT919813	hsa-miR-219-2-3p	CLIP-seq
MIRT919814	hsa-miR-2964a-3p	CLIP-seq
MIRT919815	hsa-miR-3162-5p	CLIP-seq
MIRT919816	hsa-miR-3190	CLIP-seq
MIRT919817	hsa-miR-345	CLIP-seq
MIRT919818	hsa-miR-3662	CLIP-seq
MIRT919819	hsa-miR-370	CLIP-seq
MIRT919820	hsa-miR-3978	CLIP-seq
MIRT919821	hsa-miR-429	CLIP-seq
MIRT919822	hsa-miR-4293	CLIP-seq
MIRT919823	hsa-miR-4330	CLIP-seq
MIRT919824	hsa-miR-4470	CLIP-seq
MIRT919825	hsa-miR-4517	CLIP-seq
MIRT919826	hsa-miR-4667-5p	CLIP-seq
MIRT919827	hsa-miR-4670-3p	CLIP-seq
MIRT919828	hsa-miR-4700-5p	CLIP-seq
MIRT919829	hsa-miR-4718	CLIP-seq
MIRT919830	hsa-miR-4724-5p	CLIP-seq
MIRT919831	hsa-miR-4729	CLIP-seq
MIRT919832	hsa-miR-4742-3p	CLIP-seq
MIRT919833	hsa-miR-4752	CLIP-seq
MIRT919834	hsa-miR-4760-3p	CLIP-seq
MIRT919835	hsa-miR-4763-3p	CLIP-seq
MIRT919836	hsa-miR-4797-3p	CLIP-seq
MIRT919837	hsa-miR-486-3p	CLIP-seq
MIRT919838	hsa-miR-495	CLIP-seq
MIRT919839	hsa-miR-548o	CLIP-seq
MIRT919840	hsa-miR-579	CLIP-seq
MIRT919841	hsa-miR-637	CLIP-seq
MIRT919842	hsa-miR-653	CLIP-seq
MIRT919843	hsa-miR-664	CLIP-seq
MIRT919844	hsa-miR-668	CLIP-seq
MIRT919845	hsa-miR-935	CLIP-seq
MIRT1972649	hsa-miR-1237	CLIP-seq
MIRT1972650	hsa-miR-1248	CLIP-seq
MIRT1972651	hsa-miR-128	CLIP-seq
MIRT1972652	hsa-miR-3189-3p	CLIP-seq
MIRT1972653	hsa-miR-4260	CLIP-seq
MIRT1972654	hsa-miR-4659a-3p	CLIP-seq
MIRT1972655	hsa-miR-4659b-3p	CLIP-seq
MIRT1972656	hsa-miR-4778-3p	CLIP-seq
MIRT919811	hsa-miR-200b	CLIP-seq
MIRT919812	hsa-miR-200c	CLIP-seq
MIRT2208253	hsa-miR-205	CLIP-seq
MIRT2208254	hsa-miR-2114	CLIP-seq
MIRT2208255	hsa-miR-3647-3p	CLIP-seq
MIRT2208256	hsa-miR-4282	CLIP-seq
MIRT919821	hsa-miR-429	CLIP-seq
MIRT2208257	hsa-miR-4793-5p	CLIP-seq
MIRT2208258	hsa-miR-513a-3p	CLIP-seq
MIRT2208259	hsa-miR-554	CLIP-seq
MIRT919844	hsa-miR-668	CLIP-seq
MIRT1972649	hsa-miR-1237	CLIP-seq
MIRT1972650	hsa-miR-1248	CLIP-seq
MIRT1972652	hsa-miR-3189-3p	CLIP-seq
MIRT1972654	hsa-miR-4659a-3p	CLIP-seq
MIRT1972655	hsa-miR-4659b-3p	CLIP-seq
MIRT1972656	hsa-miR-4778-3p	CLIP-seq
MIRT2511944	hsa-miR-1238	CLIP-seq
MIRT919831	hsa-miR-4729	CLIP-seq
MIRT2511945	hsa-miR-490-5p	CLIP-seq
MIRT2511946	hsa-miR-7	CLIP-seq
MIRT2511944	hsa-miR-1238	CLIP-seq
MIRT919831	hsa-miR-4729	CLIP-seq
MIRT2511945	hsa-miR-490-5p	CLIP-seq
MIRT2511946	hsa-miR-7	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CUX1	Activation	14605447
ELF1	Unknown	10233904
EP300	Repression	14605447
GATA1	Activation	10734088
GATA2	Repression	10734088
IRF1	Activation	9593745
IRF8	Activation	9593745
SATB1	Repression	14605447
SPI1	Activation	9593745
SPI1	Unknown	10233904

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	3305576, 22808130, 28351984, 32296183
GO:0005635	Component	Nuclear envelope	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	15233623, 15338276, 22808130
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	27048830
GO:0005886	Component	Plasma membrane	TAS
GO:0006801	Process	Superoxide metabolic process	IDA	12042318
GO:0006801	Process	Superoxide metabolic process	IEA
GO:0006801	Process	Superoxide metabolic process	TAS	12716910
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006952	Process	Defense response	IBA
GO:0006954	Process	Inflammatory response	IEA
GO:0006954	Process	Inflammatory response	ISS
GO:0006954	Process	Inflammatory response	TAS	7719350
GO:0007584	Process	Response to nutrient	IEA
GO:0009055	Function	Electron transfer activity	IDA	12042318
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0016020	Component	Membrane	IEA
GO:0016174	Function	NAD(P)H oxidase H2O2-forming activity	IBA
GO:0016175	Function	Superoxide-generating NAD(P)H oxidase activity	IDA	12042318
GO:0016175	Function	Superoxide-generating NAD(P)H oxidase activity	IEA
GO:0016175	Function	Superoxide-generating NAD(P)H oxidase activity	TAS	12716910
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0020037	Function	Heme binding	IMP	9774399
GO:0030171	Function	Voltage-gated proton channel activity	IDA	11477065, 12034764
GO:0030425	Component	Dendrite	IEA
GO:0030670	Component	Phagocytic vesicle membrane	TAS
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0035579	Component	Specific granule membrane	TAS
GO:0042554	Process	Superoxide anion generation	IBA
GO:0042554	Process	Superoxide anion generation	IDA	12042318, 15338276, 36241643, 36413210, 38355798
GO:0042554	Process	Superoxide anion generation	TAS	12716910
GO:0043020	Component	NADPH oxidase complex	IBA
GO:0043020	Component	NADPH oxidase complex	IDA	3305576, 15338276, 36241643, 36413210, 38355798
GO:0043020	Component	NADPH oxidase complex	IEA
GO:0043020	Component	NADPH oxidase complex	NAS	24598074
GO:0043020	Component	NADPH oxidase complex	TAS	12716910
GO:0043025	Component	Neuronal cell body	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0045087	Process	Innate immune response	IMP	9774399
GO:0045087	Process	Innate immune response	ISS
GO:0045087	Process	Innate immune response	TAS	12716910
GO:0045335	Component	Phagocytic vesicle	IEA
GO:0045471	Process	Response to ethanol	IEA
GO:0045730	Process	Respiratory burst	IMP	9774399
GO:0045730	Process	Respiratory burst	NAS	27048830
GO:0045730	Process	Respiratory burst	TAS	12716910
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	12042318
GO:0050660	Function	Flavin adenine dinucleotide binding	IMP	9774399
GO:0050664	Function	Oxidoreductase activity, acting on NAD(P)H, oxygen as acceptor	IEA
GO:0050665	Process	Hydrogen peroxide biosynthetic process	IEA
GO:0070402	Function	NADPH binding	IDA	36413210, 38355798
GO:0070821	Component	Tertiary granule membrane	TAS
GO:0071276	Process	Cellular response to cadmium ion	IEA
GO:0071361	Process	Cellular response to ethanol	IEA
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0071949	Function	FAD binding	IDA	36413210, 38355798
GO:0097038	Component	Perinuclear endoplasmic reticulum	IEA
GO:0097411	Process	Hypoxia-inducible factor-1alpha signaling pathway	IEA
GO:0106292	Function	Superoxide-generating NADPH oxidase activity	IDA	15338276, 36241643, 36413210, 38355798
GO:0106292	Function	Superoxide-generating NADPH oxidase activity	IEA
GO:0106292	Function	Superoxide-generating NADPH oxidase activity	IMP	15338276
GO:1904044	Process	Response to aldosterone	IEA
GO:1904845	Process	Cellular response to L-glutamine	IEA
GO:1990776	Process	Response to angiotensin	IEA

Other IDs

• MIM: 300481
• HGNC: 2578
• e!Ensembl: ENSG00000165168

Protein

• UniProt ID: P04839
• Protein name: NADPH oxidase 2 (EC 1.6.3.-) (CGD91-phox) (Cytochrome b(558) subunit beta) (Cytochrome b558 subunit beta) (Cytochrome b-245 heavy chain) (Heme-binding membrane glycoprotein gp91phox) (Neutrophil cytochrome b 91 kDa polypeptide) (Superoxide-generating NADP
• Protein function: Catalytic subunit of the phagocyte NADPH oxidase complex that mediates the transfer of electrons from cytosolic NADPH to O2 to produce the superoxide anion (O2(-)) (PubMed:15338276, PubMed:36241643, PubMed:36413210, PubMed:38355798). In the acti
• PDB: 3A1F, 7U8G, 8GZ3, 8KEI, 8WEJ, 8X2L
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01794	Ferric_reduct	54 → 220	Ferric reductase like transmembrane component	Family
  PF08022	FAD_binding_8	292 → 395	FAD-binding domain	Domain
  PF08030	NAD_binding_6	401 → 551	Ferric reductase NAD binding domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in neutrophils (at protein level). {ECO:0000269|PubMed:19028840}.
• Sequence:

  MGNWAVNEGLSIFVILVWLGLNVFLFVWYYRVYDIPPKFFYTRKLLGSALALARAPAACL
  NFNCMLILLPVCRNLLSFLRGSSACCSTRVRRQLDRNLTFHKMVAWMIALHSAIHTIAHL
  FNVEWCVNARVNNSDPYSVALSELGDRQNESYLNFARKRIKNPEGGLYLAVTLLAGITGV
  VITLCLILIITSSTKTIRRSYFEVFWYTHHLFVIFFIGLAIHGAERIVRGQTAESLAVHN
  ITVCEQKISEWGKIKECPIPQFAGNPPMTWKWIVGPMFLYLCERLVRFWRSQQKVVITKV
  VTHPFKTIELQMKKKGFKMEVGQYIFVKCPKVSKLEWHPFTLTSAPEEDFFSIHIRIVGD
  WTEGLFNACGCDKQEFQDAWKLPKIAVDGPFGTASEDVFSYEVVMLVGAGIGVTPFASIL
  KSVWYKYCNNATNLKLKKIYFYWLCRDTHAFEWFADLLQLLESQMQERNNAGFLSYNIYL
  TGWDESQANHFAVHHDEEKDVITGLKQKTLYGRPNWDNEFKTIASQHPNTRIGVFLCGPE
  ALAETLSKQSISNSESGPRGVHFIFNKENF

• Sequence length: 570

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
Chronic granulomatous disease	Pathogenic	rs137854592, rs2519208929, rs151344498, rs151344497, rs1131691828	RCV001826456 RCV005616637 RCV000208611 RCV000208608 RCV001274390	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CYBB-related disorder	Pathogenic	rs137854588, rs2519204505	RCV003398485 RCV003412417	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Granulomatous disease, chronic, X-linked	Pathogenic; Likely pathogenic	rs2146804063, rs2146813725, rs2146818057, rs2146801885, rs1602175016, rs2146822068, rs2146801939, rs2146803092, rs1131691828, rs2146811730, rs2146811786, rs2146813622, rs2146817275, rs2146818103, rs2146821175, rs1929658430, rs2146801935, rs2146813774, rs2146813757, rs2146817260, rs2146817045, rs782756433, rs2146817207, rs1929304640, rs2146813743, rs2146810272, rs2146811863, rs2146801959, rs1928965653, rs2146817094, rs1556464581, rs151344474, rs1556471620, rs1929432929, rs2146822029, rs2519211098, rs2519189201, rs2519189260, rs2519204575, rs2519211018, rs2519213323, rs151344487, rs193922450, rs2519206740, rs2519190847, rs2519200090, rs2519189288, rs2519206714, rs2519214389, rs2519208678, rs2519208931, rs2519204598, rs137854585, rs137854588, rs137854590, rs137854591, rs137854596, rs2146821097, rs137854592, rs137854593, rs137854594, rs387906485, rs2146810847, rs1569478551, rs387906486, rs886039335, rs886039337, rs886041194, rs886041192, rs886039563, rs2519211145, rs2519208868, rs2519189282, rs932660228, rs2519198782, rs2519204472, rs2519208716, rs2519208920, rs2519209820, rs2519213435, rs2519208804, rs2519201923, rs2519198695, rs1057517730, rs1453468510, rs193922445, rs193922446, rs193922448, rs193922449, rs1556473078, rs1556464554, rs1556470775, rs1556464116, rs1556473119, rs1556469197, rs1569479943, rs1569480333, rs1569480031, rs1569479953, rs1602183698, rs200129367, rs1602186299, rs1602173465, rs1602184316, rs151344484, rs151344470, rs151344473, rs151344454, rs151344481, rs151344491, rs151344482, rs151344462, rs151344466, rs151344467, rs1602183244, rs151344455, rs180899069, rs1929244686, rs1929497736, rs1929531349, rs1929527785, rs1929245964, rs1929563459, rs1929499524, rs1929376118, rs1929302971, rs1929500338, rs1928965951	RCV001594442 RCV001594438 RCV001594444 RCV001712894 RCV001377028 RCV001379616 RCV001390154 RCV001387618 RCV001382431 RCV001382942 RCV001389980 RCV001384090 RCV001384091 RCV001385156 RCV001387574 RCV001387575 RCV004594361 RCV001824239 RCV001824240 RCV001941806 RCV001864709 RCV001964497 RCV001964504 RCV001929840 RCV002029151 RCV002047910 RCV002000145 RCV001916148 RCV001907973 RCV001953470 RCV001880734 RCV002030441 RCV001890194 RCV001951510 RCV002238568 RCV002272992 RCV002285207 RCV003064691 RCV003064692 RCV003064694 RCV003041436 RCV003050600 RCV003064696 RCV000190516 RCV002843278 RCV003016153 RCV003042287 RCV003057285 RCV003051782 RCV003055907 RCV003059678 RCV003329128 RCV003219212 RCV001385155 RCV000011670 RCV003509481 RCV001192988 RCV000011674 RCV000011675 RCV000011676 RCV000011677 RCV000011678 RCV001851796 RCV000011680 RCV000011684 RCV000011686 RCV000011687 RCV002518748 RCV001054149 RCV000690581 RCV002518804 RCV003509811 RCV003510592 RCV003509869 RCV003509044 RCV003509045 RCV003509046 RCV003509048 RCV003509049 RCV003509050 RCV003509051 RCV003509052 RCV003622571 RCV003623038 RCV003988465 RCV001192987 RCV001584194 RCV001293538 RCV000029623 RCV000029625 RCV000029628 RCV000029630 RCV003992312 RCV000589300 RCV002532686 RCV000640726 RCV000640721 RCV000640724 RCV000640720 RCV000695304 RCV000696039 RCV000761230 RCV000780206 RCV000800284 RCV000816133 RCV000800384 RCV000822902 RCV000990769 RCV001385154 RCV001207941 RCV002513776 RCV002513777 RCV000585928 RCV000815331 RCV005089492 RCV003388571 RCV001854239 RCV001208587 RCV002514300 RCV001030041 RCV001067879 RCV001069571 RCV001051531 RCV001045393 RCV001046324 RCV001044056 RCV001062503 RCV001192989 RCV001219159 RCV001215316 RCV001212494 RCV001230670 RCV001236453 RCV001228259 RCV001246396	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Granulomatous disease, chronic, X-linked, variant	Pathogenic; Likely pathogenic	rs137854585, rs137854586, rs137854589, rs137854590, rs137854591, rs137854594, rs137854595	RCV000011667 RCV000011668 RCV000011671 RCV000011672 RCV000011673 RCV000011679 RCV000011683	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic	rs2146813774, rs1929432929, rs1929499524	RCV005922738 RCV005925365 RCV005909031	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic; Likely pathogenic	rs1556471620, rs2519211018	RCV005923964 RCV005930261 RCV005930330	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency	Pathogenic; Likely pathogenic	rs387906485, rs151344498, rs151344497, rs1453468510	RCV002504778 RCV000022861 RCV000022862 RCV006257293	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 2	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN INFARCTION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRONCHITIS, RECURRENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY MOTILITY DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dynein arm defect of respiratory motile cilia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRANULOMATOUS DISEASE, CHRONIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 34	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary ciliary dyskinesia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROTEINURIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Recurrent bronchitis	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	16138344		★☆☆☆☆ Found in Text Mining only
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	12225397		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	20724480, 21659519	Associate	★☆☆☆☆ Found in Text Mining only
Agranulocytosis	Agranulocytosis	BEFREE	15538122		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	30172425		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	18202172		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	17853944, 21937428, 22735487, 27212019, 29250069, 30366907		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	BEFREE	21937428		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	31016508		★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	17654682	Stimulate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	17654682		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29039574		★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	38598844	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	31039481		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	31039481		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	28735510, 35320939, 40775512	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	26988591, 27912196		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	8645957		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	11914250, 22287576, 23288160, 29430280, 30342191		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	20919938, 21275845, 25155522, 25867281, 28467721, 31325723		★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	21811995	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	30915077	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	22982469, 27253713		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	25514499	Stimulate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	11914250, 22287576, 23288160, 29430280, 30342191		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	39702436	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	31250672		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	35305619	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	28034626, 30529000		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	20919938, 21275845, 24787605, 28135245, 29526808, 29578071, 30050527, 30270440, 31349119		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	28135245, 30924925, 38442270	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Chronic Granulomatous Disease	Granulomatous disease	CTD_human_DG	11122248, 11498749		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Chronic Granulomatous Disease	Granulomatous disease	BEFREE	30963593		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	29861101		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	BEFREE	30811072		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	28809856	Inhibit	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	28630469	Associate	★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	11213802		★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain Infarction	CTD_human_DG	19417757		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Injuries Traumatic	Brain injuries	Pubtator	23894384	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26177467, 33020304	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	36193058	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27740521, 28894215	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	26059056, 28536313		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	31706280	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31641008		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	24328853	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	28261787, 28768915, 28878116		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	28600985	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Alcoholic	Cardiomyopathy	BEFREE	27624556		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	28333148		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	23386289, 25066192, 29377505		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	36035865	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	34140767	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Artery Thrombosis	Carotid Artery Thrombosis	BEFREE	30995985		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	11323523, 27075483		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	20145655, 24206089, 27075483, 29849881, 30386989		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	31706280		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	31706280		★☆☆☆☆ Found in Text Mining only
Chronic granulomatous disease	Granulomatous Disease	BEFREE	10068684, 10081502, 10233904, 10356152, 10419882, 10452961, 10498623, 10627478, 10706888, 10828042, 10910929, 10914676, 10933200, 10980575, 11045425, 11122248, 11213802, 11345535, 11462241, 11511930, 11566256, 11997079, 12139950, 12589359, 12817011, 12829597, 1415254, 1438069, 14624387, 14645984, 14697745, 15082894, 15107922, 15179325, 1520880, 15308575, 15338276, 15454837, 15468310, 15577746, 15858141, 16138344, 16516412, 16620288, 16847341, 16937026, 17330823, 17543165, 17576211, 17932569, 18546332, 18625437, 18762975, 18774749, 19131770, 19410294, 19708127, 19949658, 20089078, 20407811, 20479156, 20511543, 20693431, 20729109, 20861446, 21604087, 21623884, 21900546, 22125116, 22383943, 22924696, 23489116, 23526099, 23817424, 23826567, 23827747, 23859418, 23910690, 24078260, 24081483, 24276928, 24446915, 24787605, 24943880, 24999735, 25175493, 25239440, 25245086, 25689796, 26210446, 26283340, 26680691, 26907999, 27044504, 27220316, 27666509, 27917630, 27932349, 27965320, 2821069, 28320834, 28356734, 28528201, 28575744, 29373243, 29410324, 29499925, 29573449, 29774526, 29947158, 30050527, 30270440, 30506560, 30633606, 30895693, 30904913, 31085592, 31172494, 31349119, 31379142, 31554901, 31626946, 3417309, 7517218, 7694872, 7713925, 7919388, 8182143, 8234321, 8243611, 8400270, 8611697, 8615831, 9054662, 9231068, 9329953, 9414292, 9585602, 9600921, 9694155, 9774399, 9851826, 9888386		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chronic granulomatous disease	Granulomatous Disease	CTD_human_DG	11122248, 11498749		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chronic granulomatous disease	Granulomatous Disease	LHGDN	11462241, 12589359, 15777347, 16516412, 18774749		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chronic granulomatous disease	Granulomatous Disease	CLINVAR_DG	21278736		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chronic granulomatous disease	Granulomatous Disease	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chronic granulomatous disease	Granulomatous Disease	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chronic kidney disease stage 5	Kidney Disease	BEFREE	28215666		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28396118		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	31250672		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	30210675, 30811072		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome, Type I	Cockayne Syndrome	BEFREE	22568654		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	21902598	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	29083257, 31841660		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	24524998, 30525222		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	33838628	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26116564	Associate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	31429942		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	30807841		★☆☆☆☆ Found in Text Mining only
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	30811072		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	26354779		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	CTD_human_DG	20304815		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	BEFREE	23553616, 27624556, 28119629, 28790356, 29095897, 30404073, 31228552		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Contiguous gene syndrome	Contiguous gene syndrome	BEFREE	20813210		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	11591612, 11914250		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	11591612		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	11591612		★☆☆☆☆ Found in Text Mining only
Cortical cataract	Cortical cataract	BEFREE	28868604		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	29454792, 33882797	Associate	★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic neutropenia	Pubtator	37705244	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	27938946, 30195046		★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	30423565		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28433943, 30268520		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	18806296, 25937176, 28617308, 30347077, 30962089		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	18806296, 21519150, 25937176, 28617308, 30347077, 30962089		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes Mellitus	CTD_human_DG	23723366		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	28076881	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	23919599, 31118934		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27664519, 31467521		★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	BEFREE	31118934		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	37038746	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	23919599		★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic Nephropathy	BEFREE	28682956		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	28617308, 31277234, 31300985		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	27173257	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	26024084		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	LHGDN	18523147		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	18523147	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal dysplasia, hypohidrotic, with immune deficiency	Ectodermal Dysplasia	BEFREE	18523147		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	30677569		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	30984416		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	31667656		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	31667656		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	31641008		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	29269727, 29329924		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	23703665, 29329924, 31393787		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	23049784, 28757911, 28781602, 30036633		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	Pubtator	36973348	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	28855537	Associate	★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	31580894		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26136341		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	26136341	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26136341		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37277492	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	28515366		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	34861820, 35418061	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	37876929	Associate	★☆☆☆☆ Found in Text Mining only
Granulomatosis	Granulomatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Granulomatous Disease Chronic	Granulomatous disease	Pubtator	10068684, 10233904, 10452961, 10627478, 10706888, 10828042, 11122248, 11435314, 11477065, 11566256, 11926990, 11997079, 11997083, 12094329, 1332032, 1415254, 14978696, 15082894, 15107922, 1520880, 15308575, 15338276, 16138344, 16569599, 1710153, 17848987, 18402298, 18402299, 18520120, 18682599, 18774749, 1895315, 19279361, 19708127, 20085814, 20228266, 20724480, 21878903, 21900546, 22383943, 22540226, 22924696, 22924737, 23826567, 23859418, 24973227, 25252997, 25666294, 2566976, 26101162, 26283340, 26316390, 27763786, 27917630, 28153086, 28356734, 28886419, 28982143, 29132304, 30506560, 30868346, 30924925, 31364312, 31379142, 32849547, 32954498, 33098164, 33746979, 34596815, 34680870, 35057749, 35365205, 35451380, 35796921, 35842407, 35945378, 36827093, 37275907, 37533075, 37705244, 38066563, 38134578, 38309375, 7517218, 7579466, 7615499, 7713925, 7713934, 7756659, 7803797, 7919388, 7949086, 7949143, 8083361, 8163676, 8182143, 8234321, 8270871, 8400270, 8547675, 8555500, 8611697, 8615831, 8916969, 9129047, 9414292, 9585602, 9600921	Associate	★☆☆☆☆ Found in Text Mining only
Granulomatous Disease Chronic	Granulomatous disease	Pubtator	33717137	Inhibit	★☆☆☆☆ Found in Text Mining only
Granulomatous Disease, Chronic, X-Linked	Granulomatous Disease	BEFREE	10068684, 1007158, 10828042, 11462241, 11477065, 11997083, 12139950, 12393624, 12804147, 12817011, 12829597, 1323464, 15308575, 15468310, 15538631, 15577746, 15777347, 16582916, 1710153, 17543165, 17544093, 17728796, 18402298, 18402299, 18523147, 18774749, 20085814, 20978475, 21190454, 21278736, 21408614, 21411759, 21878903, 22305980, 22382877, 22924737, 24869932, 24999735, 25245086, 26316390, 26464403, 26680691, 27763786, 27932349, 28077679, 28886419, 29410324, 29702544, 30007118, 30506560, 30995985, 31626946, 3334897, 7579466, 7694872, 7756659, 7949086, 8083361, 8243611, 8270871, 8615831, 8634451, 8781441, 8916969, 9111587, 9231068, 9544160, 9667376, 9794433, 9851826, 9880243		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Granulomatous Disease, Chronic, X-Linked	Granulomatous Disease	UNIPROT_DG	10089913, 10914676, 11462241, 11997083, 12139950, 15338276, 1710153, 18773283, 22125116, 23910690, 2556453, 27666509, 7927345, 8101486, 8182143, 8916969, 9111587, 9585602, 9667376, 9794433, 9856476, 9888386		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Granulomatous Disease, Chronic, X-Linked	Granulomatous Disease	CLINVAR_DG	10627478, 11112388, 11162142, 11435314, 11462241, 12589359, 1347621, 14697745, 1710153, 18546332, 19483051, 20724480, 20729109, 21190454, 22540226, 22924737, 23193493, 23859418, 23956436, 24999735, 26453586, 27701760, 28168067, 28251166, 29560547, 30633606, 8634410, 9585602		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Granulomatous Disease, Chronic, X-Linked	Granulomatous Disease	CTD_human_DG	11122248, 11498749		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Granulomatous Disease, Chronic, X-Linked	Granulomatous Disease	GENOMICS_ENGLAND_DG	17293536		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Graves Disease	Graves Disease	BEFREE	30099546		★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	28868604		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	24524998		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	26354779		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	26354779	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	12610097	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	CTD_human_DG	20304815		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	BEFREE	23553616, 27624556, 28119629, 28790356, 29095897, 30404073, 31228552		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure, Right-Sided	Heart Failure	CTD_human_DG	20304815		★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	17728796		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	30323311		★☆☆☆☆ Found in Text Mining only
Hepatic Encephalopathy	Hepatic encephalopathy	Pubtator	36424620	Stimulate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	18671701, 24376854	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	23223017		★☆☆☆☆ Found in Text Mining only
Hyper-IgM Immunodeficiency Syndrome, Type 1	Hyper-IgM Immunodeficiency Syndrome	BEFREE	11213802		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	21524749, 29103982		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	26024084, 28128227, 28499911, 28790356, 30317245, 31671427		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	28499911, 28600985		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	Pubtator	28600985	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	30342191		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	15753233, 18195161, 24053613, 28035366, 28298457, 28320851, 29688896, 31183001, 31338744, 31350796, 31730933		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	16685210, 21593737, 27659729, 27847271		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypocholesterolemia	Hypocholesterolemia	BEFREE	21042717		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	22865553	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	26210446, 28314381		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	28314381	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	28077679, 28575744, 29499925, 31172464		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	18202172, 29083257, 31841660		★☆☆☆☆ Found in Text Mining only
Inflammatory abnormality of the eye	Inflammatory abnormality of the eye	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Disease 25 Autosomal Recessive	Inflammatory bowel disease	Pubtator	32081864	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	21900546, 26210446, 30321511, 31172496, 31172500, 31554901		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	22467146, 33098164, 37434114, 39273699	Associate	★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	29990562		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	28292946		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	30106111		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	CTD_human_DG	20116427		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	BEFREE	23919599		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Acute	Kidney Failure	BEFREE	29544198, 30599182		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	CTD_human_DG	19420110		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Chronic	Kidney Failure	BEFREE	28215666		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	30323866		★☆☆☆☆ Found in Text Mining only
Left-Sided Heart Failure	Heart Failure	CTD_human_DG	20304815		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	24520084	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	2496143, 35172562, 39694125	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	30323311, 30401703, 30943405		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	22550344, 35073432, 35172562	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	39694125	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	28733324, 29967760, 30401703		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	28292946		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27740521, 31443922		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	30210675, 30811072, 31443922		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis, Alcoholic	Alcoholic Liver Cirrhosis	BEFREE	28601846		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	26528827		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	26683156, 28515361, 31349119		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	28135245, 38442270	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	26683156, 28515361, 31349119		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	26683156, 28135245, 28515361, 30403914, 30915077, 31349119		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	35418061, 39224582	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	26683156, 28515361, 31349119		★☆☆☆☆ Found in Text Mining only
Lymphadenitis	Lymphadenitis	BEFREE	18762975		★☆☆☆☆ Found in Text Mining only
Lymphadenitis	Lymphadenitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	22229863	Associate	★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	26354779		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	26059056, 28536313		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30459931		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29061308, 29872318		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26528827, 28697598, 30270440		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	31706280		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	31278358		★☆☆☆☆ Found in Text Mining only
Mediastinal lymphadenopathy	Mediastinal lymphadenopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	11997235	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28760732		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28433943, 30268520		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	28499911		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	29349831		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	36764627	Associate	★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	22229863		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	32922167	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	27479807, 30984416		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	33354282	Stimulate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	35073438	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis Chronic Progressive	Multiple sclerosis	Pubtator	35073438	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	20513101, 29381135		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	24719867, 34680870, 37705244	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	3165493		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	2496143		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	30323311		★☆☆☆☆ Found in Text Mining only
Myocardial Failure	Myocardial Infarction	CTD_human_DG	20304815		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	12610097	Stimulate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28235791, 29337194, 29744879, 29800789, 30092950, 30634641, 31126732		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	34819349, 37246754	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	36466903	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	22013061		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	22013061	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	1357659, 1652058, 18671701, 28801234, 30062795, 30401703, 30459931		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	12962720	Inhibit	★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	37705244	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	25086905		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28811143, 29550327, 30112693		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29269727, 29660503, 31217465, 31393787, 31706246		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28285685, 31663688		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	31393787		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	26910819		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	24973227	Stimulate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28499911, 30342191, 31662816		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	31146598	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	27777643	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	27777643, 28400913		★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	27829407		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	36973348	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29731909		★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	29482638, 31641008	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	29039574		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	38598844	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28978491, 29154191, 29352205, 30157869, 30513525, 31805953		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal disease	Pubtator	35766184	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	30347720		★☆☆☆☆ Found in Text Mining only
Peroxisome Biogenesis Disorder, Complementation Group D	Zellweger Syndrome	BEFREE	15577746, 17543165, 25245086, 26680691, 29410324, 30506560, 31626946, 8243611, 9231068, 9851826		★☆☆☆☆ Found in Text Mining only
Peroxisome Biogenesis Disorder, Complementation Group D	Zellweger Syndrome	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	29260383		★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	27903507		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	16138344		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30459931		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	30459931		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	39224582	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	BEFREE	26683156		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	26910819		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	24835767		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	36846109	Inhibit	★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	27938946		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	29183727		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	22568654		★☆☆☆☆ Found in Text Mining only
Renal hypertension	Renal Hypertension	BEFREE	31730933		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	35451380	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	26024084, 31277234, 31300985		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	3417309		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	17122966, 26683156, 29183727, 30915077		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Right Ventricular Hypertrophy	Ventricular hypertrophy	BEFREE	28259654		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	17543165		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	24768588	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoidosis Pulmonary	Sarcoidosis	Pubtator	39364409	Stimulate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	24844655, 28878116, 29519920, 31037153		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	11213802, 26856578		★☆☆☆☆ Found in Text Mining only
Shwachman syndrome	Shwachman Syndrome	BEFREE	30666592		★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	Pubtator	33098164	Associate	★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	21902598	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	BEFREE	22568654		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	29269727, 29329924		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29872318		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26034362, 32021099, 38425243	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	27665283, 28330417, 30738334, 31676318		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	25889655		★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	BEFREE	31665913		★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	BEFREE	30353470		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31053611		★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	22728270		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	31706280	Associate	★☆☆☆☆ Found in Text Mining only
Van der Woude syndrome	Van Der Woude Syndrome	BEFREE	31026554, 31059037		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	23261940, 28499911		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	35172670	Associate	★☆☆☆☆ Found in Text Mining only
Venous Insufficiency	Venous insufficiency	Pubtator	32141705	Stimulate	★☆☆☆☆ Found in Text Mining only
X-linked agammaglobulinemia	Agammaglobulinemia, X-Linked	BEFREE	11213802		★☆☆☆☆ Found in Text Mining only
X-Linked Lymphoproliferative Disorder	Lymphoproliferative Syndrome, X-Linked	BEFREE	11213802		★☆☆☆☆ Found in Text Mining only
X-linked retinitis pigmentosa	Retinitis Pigmentosa, X-Linked	BEFREE	7760861		★☆☆☆☆ Found in Text Mining only
ZAP70 deficiency	ZAP70 Deficiency	BEFREE	11213802		★☆☆☆☆ Found in Text Mining only