BTK (Bruton tyrosine kinase)

Gene

• Entrez ID: 695
• Gene name: Bruton tyrosine kinase
• Gene symbol: BTK
• Synonyms (NCBI Gene): AGMX1, AT, ATK, BPK, IGHD3, IMD1, PSCTK1, XLA
• Chromosome: X
• Chromosome location: Xq22.1
• Summary: The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs7474275	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs28935478	T>C	Pathogenic	Coding sequence variant, intron variant, missense variant
rs41310709	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, intron variant, stop gained
rs104894770	C>G	Pathogenic	Coding sequence variant, missense variant
rs128620183	C>T	Pathogenic	Coding sequence variant, missense variant
rs128620184	T>C	Pathogenic	Coding sequence variant, intron variant, missense variant
rs128620185	C>T	Pathogenic	Coding sequence variant, missense variant
rs128620186	A>G	Pathogenic	Coding sequence variant, initiator codon variant, missense variant
rs128620187	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs128620188	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs128620189	T>G	Pathogenic	Coding sequence variant, missense variant
rs128621190	A>T	Pathogenic	Coding sequence variant, missense variant
rs128621191	C>A	Pathogenic	Coding sequence variant, stop gained
rs128621192	C>T	Pathogenic	Coding sequence variant, stop gained
rs128621193	G>A	Pathogenic	Coding sequence variant, stop gained
rs128621194	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs128621195	T>C	Pathogenic	Coding sequence variant, missense variant
rs128621196	T>G	Pathogenic	Coding sequence variant, missense variant
rs128621197	A>C	Pathogenic	Coding sequence variant, stop gained, intron variant
rs128621198	A>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs128621199	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, intron variant, stop gained
rs128621200	A>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs128621201	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, intron variant, missense variant
rs128621202	C>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs128621203	A>G	Pathogenic	Coding sequence variant, missense variant
rs128621204	G>A	Pathogenic	Coding sequence variant, missense variant
rs128621205	A>G	Pathogenic	Coding sequence variant, missense variant
rs128621206	T>C	Pathogenic	Coding sequence variant, missense variant
rs128621207	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs128621208	G>T	Pathogenic	Coding sequence variant, missense variant
rs128621209	C>T	Pathogenic	Coding sequence variant, missense variant
rs128621210	A>T	Pathogenic	Coding sequence variant, missense variant
rs128622211	C>A	Pathogenic	Coding sequence variant, stop gained
rs146681416	T>C,G	Likely-pathogenic, benign	Synonymous variant, missense variant, coding sequence variant
rs193922124	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, intron variant, stop gained
rs193922125	T>A	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs193922126	AATTTGGA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs193922128	TCTG>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs193922129	T>C	Likely-pathogenic	Splice acceptor variant
rs193922131	C>T	Likely-pathogenic	Splice acceptor variant
rs193922132	T>C	Likely-pathogenic	Splice acceptor variant
rs193922133	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs782519139	C>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs864321659	C>T	Pathogenic	Intron variant
rs864321660	TTCT>-	Pathogenic	Frameshift variant, coding sequence variant
rs864321661	TT>-	Pathogenic	Intron variant
rs864321662	C>G	Pathogenic	Splice acceptor variant
rs864321663	T>C	Pathogenic	Splice acceptor variant
rs864321664	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs864321665	->T	Pathogenic	Frameshift variant, coding sequence variant
rs886039321	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs886039555	T>C	Pathogenic	Splice acceptor variant
rs886039657	G>A	Pathogenic	Stop gained, coding sequence variant
rs886041148	->T	Pathogenic	Frameshift variant, coding sequence variant
rs886041149	G>A,C	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs886041473	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057517709	A>T	Pathogenic	Missense variant, coding sequence variant, intron variant
rs1057517710	C>T	Pathogenic	Missense variant, coding sequence variant, intron variant
rs1057519825	C>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, intron variant
rs1057519826	A>T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1057520045	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057520578	C>G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057520612	A>T	Pathogenic	Coding sequence variant, stop gained
rs1057520682	G>A,C,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1057521116	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057521814	G>A,C	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1064793859	C>T	Pathogenic	Splice donor variant
rs1064794285	CCT>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1064794904	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064796809	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064796836	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1131691354	C>A,T	Likely-pathogenic, pathogenic	Intron variant
rs1555977339	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555977341	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555977461	A>G	Pathogenic	Missense variant, coding sequence variant
rs1555977474	C>A,T	Pathogenic, likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs1555977580	CACCT>TTTC	Pathogenic	Intron variant, coding sequence variant, splice donor variant
rs1555977592	AACA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555977598	T>A	Pathogenic	Splice acceptor variant
rs1555977811	G>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs1555978024	C>G	Pathogenic	Intron variant, missense variant, coding sequence variant
rs1555978197	G>A	Pathogenic	Missense variant, coding sequence variant
rs1555978277	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555978412	ATAGTTAC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555978777	A>T	Likely-pathogenic	Splice donor variant
rs1555978891	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555980049	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1555980796	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555980799	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555980866	TTAC>-	Pathogenic	Intron variant, splice donor variant
rs1555980875	T>C	Pathogenic	Missense variant, coding sequence variant
rs1555980888	G>A	Pathogenic	Stop gained, coding sequence variant
rs1569291215	C>A	Pathogenic	Splice donor variant
rs1569291644	A>G	Pathogenic	Coding sequence variant, missense variant, intron variant
rs1569292021	G>A	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs1569292214	A>T	Pathogenic	Coding sequence variant, missense variant
rs1569292649	C>T	Pathogenic	Splice donor variant
rs1569292774	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1569292810	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569292813	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569292818	AC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569293252	C>A	Likely-pathogenic	Splice donor variant
rs1569293253	->ATGTAGCT	Pathogenic	Coding sequence variant, frameshift variant
rs1569295678	G>T	Pathogenic	Coding sequence variant, stop gained
rs1569296295	C>T	Likely-pathogenic	Coding sequence variant, synonymous variant
rs1603001771	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1603001805	C>T	Pathogenic	Coding sequence variant, stop gained
rs1603001846	C>G	Pathogenic	Splice acceptor variant
rs1603002367	->TA	Pathogenic	Coding sequence variant, frameshift variant
rs1603002421	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1603004481	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1603005060	T>A	Likely-pathogenic	Intron variant
rs1603005073	C>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1603005139	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1603005659	T>C	Likely-pathogenic	Splice acceptor variant, intron variant
rs1603007888	A>T	Pathogenic	Coding sequence variant, stop gained
rs1603007942	C>T	Pathogenic	Splice acceptor variant
rs1603008329	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1603008349	C>T	Pathogenic	Coding sequence variant, stop gained
rs1603008381	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1603008449	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603009890	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603010333	GGCAGCCCATAGCATTT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1603017538	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603019535	G>A	Pathogenic	Coding sequence variant, stop gained
rs1603019594	TCT>-	Pathogenic, uncertain-significance	Coding sequence variant, inframe deletion
rs1603019780	T>C	Likely-pathogenic	Intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001128	hsa-miR-346	Luciferase reporter assay	19342689
MIRT001128	hsa-miR-346	qRT-PCR	19342689
MIRT001128	hsa-miR-346	Northern blot	19342689
MIRT001128	hsa-miR-346	Western blot	19342689
MIRT731682	hsa-miR-210-3p	ChIP-seq, Immunoblot, Luciferase reporter assay, Western blot	27756747
MIRT731682	hsa-miR-210-3p	ChIP-seq, Immunoblot, Luciferase reporter assay, Western blot	27756747
MIRT731683	hsa-miR-425-5p	ChIP-seq, Immunoblot, Luciferase reporter assay, Western blot	27756747
MIRT731683	hsa-miR-425-5p	ChIP-seq, Immunoblot, Luciferase reporter assay, Western blot	27756747
MIRT731684	hsa-miR-1253	ChIP-seq, Immunoblot, Luciferase reporter assay, Western blot	27756747
MIRT731684	hsa-miR-1253	ChIP-seq, Immunoblot, Luciferase reporter assay, Western blot	27756747
MIRT731685	hsa-miR-4269	ChIP-seq, Immunoblot, Luciferase reporter assay, Western blot	27756747
MIRT731685	hsa-miR-4269	ChIP-seq, Immunoblot, Luciferase reporter assay, Western blot	27756747
MIRT731686	hsa-miR-4667-3p	ChIP-seq, Immunoblot, Luciferase reporter assay, Western blot	27756747
MIRT731686	hsa-miR-4667-3p	ChIP-seq, Immunoblot, Luciferase reporter assay, Western blot	27756747
MIRT1944816	hsa-miR-147b	CLIP-seq
MIRT1944817	hsa-miR-210	CLIP-seq
MIRT1944818	hsa-miR-4786-3p	CLIP-seq
MIRT2183242	hsa-miR-329	CLIP-seq
MIRT2183243	hsa-miR-362-3p	CLIP-seq
MIRT2183244	hsa-miR-4514	CLIP-seq
MIRT2183245	hsa-miR-4692	CLIP-seq
MIRT2183246	hsa-miR-4742-5p	CLIP-seq
MIRT2183247	hsa-miR-513a-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SP1	Unknown	10362515
SP3	Unknown	10362515
SPI1	Unknown	10362515

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001780	Process	Neutrophil homeostasis	IEA
GO:0001805	Process	Positive regulation of type III hypersensitivity	IEA
GO:0001812	Process	Positive regulation of type I hypersensitivity	IEA
GO:0001818	Process	Negative regulation of cytokine production	IEA
GO:0002250	Process	Adaptive immune response	IBA
GO:0002250	Process	Adaptive immune response	IEA
GO:0002250	Process	Adaptive immune response	TAS	19290921
GO:0002344	Process	B cell affinity maturation	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002553	Process	Histamine secretion by mast cell	IEA
GO:0002639	Process	Positive regulation of immunoglobulin production	IEA
GO:0002721	Process	Regulation of B cell cytokine production	TAS	19290921
GO:0002755	Process	MyD88-dependent toll-like receptor signaling pathway	TAS
GO:0002902	Process	Regulation of B cell apoptotic process	TAS	19290921
GO:0004672	Function	Protein kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	EXP	7518558
GO:0004713	Function	Protein tyrosine kinase activity	IDA	34554188
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	TAS	11913944
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IBA
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IDA	11606584, 15509800
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IEA
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IGI	14656219
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	TAS	19290921
GO:0005515	Function	Protein binding	IPI	8892607, 9012831, 9571151, 11788586, 15046600, 15539407, 16969585, 19214191, 22366891, 22939624, 25825872, 25910212, 28514442, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	TAS	11913944
GO:0005547	Function	Phosphatidylinositol-3,4,5-trisphosphate binding	IDA	17823121
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	19290921
GO:0005737	Component	Cytoplasm	IDA	17823121
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	15046600
GO:0005829	Component	Cytosol	IDA	17823121
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS	19290921
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	17823121
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	19290921
GO:0006915	Process	Apoptotic process	IEA
GO:0007498	Process	Mesoderm development	TAS	8013627
GO:0008270	Function	Zinc ion binding	IEA
GO:0008289	Function	Lipid binding	IEA
GO:0016004	Function	Phospholipase activator activity	IDA	11606584
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IDA	11606584
GO:0019722	Process	Calcium-mediated signaling	TAS	15046600
GO:0030167	Process	Proteoglycan catabolic process	IEA
GO:0030889	Process	Negative regulation of B cell proliferation	IEA
GO:0030890	Process	Positive regulation of B cell proliferation	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032481	Process	Positive regulation of type I interferon production	IDA	25636800
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0032693	Process	Negative regulation of interleukin-10 production	IEA
GO:0032755	Process	Positive regulation of interleukin-6 production	IEA
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IEA
GO:0034614	Process	Cellular response to reactive oxygen species	IEA
GO:0035556	Process	Intracellular signal transduction	IDA	11606584, 15509800
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035556	Process	Intracellular signal transduction	IGI	14656219
GO:0035556	Process	Intracellular signal transduction	TAS	11913944
GO:0038095	Process	Fc-epsilon receptor signaling pathway	TAS
GO:0042113	Process	B cell activation	IEA
GO:0042113	Process	B cell activation	TAS	19290921
GO:0042802	Function	Identical protein binding	IPI	11577348
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	TAS	19290921
GO:0043274	Function	Phospholipase binding	IPI	11606584, 14656219
GO:0045087	Process	Innate immune response	IEA
GO:0045087	Process	Innate immune response	TAS	19290921
GO:0045121	Component	Membrane raft	IDA	15046600
GO:0045121	Component	Membrane raft	IEA
GO:0045579	Process	Positive regulation of B cell differentiation	TAS	19290921
GO:0046872	Function	Metal ion binding	IEA
GO:0048469	Process	Cell maturation	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050766	Process	Positive regulation of phagocytosis	IEA
GO:0050852	Process	T cell receptor signaling pathway	IBA
GO:0050853	Process	B cell receptor signaling pathway	IBA
GO:0050853	Process	B cell receptor signaling pathway	IDA	15509800
GO:0050853	Process	B cell receptor signaling pathway	TAS	19290921
GO:0050864	Process	Regulation of B cell activation	IEA
GO:0050869	Process	Negative regulation of B cell activation	IEA
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	TAS	19290921
GO:0061516	Process	Monocyte proliferation	IEA
GO:0070664	Process	Negative regulation of leukocyte proliferation	IEA
GO:0071226	Process	Cellular response to molecule of fungal origin	IEA
GO:0097190	Process	Apoptotic signaling pathway	TAS	8688094
GO:0098761	Process	Cellular response to interleukin-7	IEA
GO:0140896	Process	CGAS/STING signaling pathway	IDA	25636800, 35613581
GO:0141111	Process	Positive regulation of cGAS/STING signaling pathway	IDA	25704810
GO:0150153	Process	Positive regulation of interleukin-17A production	IEA
GO:1900227	Process	Positive regulation of NLRP3 inflammasome complex assembly	IDA	34554188
GO:1900227	Process	Positive regulation of NLRP3 inflammasome complex assembly	IEA
GO:1901647	Process	Positive regulation of synoviocyte proliferation	IEA
GO:1990959	Process	Eosinophil homeostasis	IEA

Other IDs

• MIM: 300300
• HGNC: 1133
• e!Ensembl: ENSG00000010671

Protein

• UniProt ID: Q06187
• Protein name: Tyrosine-protein kinase BTK (EC 2.7.10.2) (Agammaglobulinemia tyrosine kinase) (ATK) (B-cell progenitor kinase) (BPK) (Bruton tyrosine kinase)
• Protein function: Non-receptor tyrosine kinase indispensable for B lymphocyte development, differentiation and signaling (PubMed:19290921). Binding of antigen to the B-cell antigen receptor (BCR) triggers signaling that ultimately leads to B-cell activation (PubM
• PDB: 1AWW, 1AWX, 1B55, 1BTK, 1BWN, 1K2P, 1QLY, 2GE9, 2Z0P, 3GEN, 3K54, 3OCS, 3OCT, 3P08, 3PIX, 3PIY, 3PIZ, 3PJ1, 3PJ2, 3PJ3, 4NWM, 4OT5, 4OT6, 4OTF, 4OTQ, 4OTR, 4RFY, 4RFZ, 4RG0, 4RX5, 4YHF, 4Z3V, 4ZLY, 4ZLZ, 5BPY, 5BQ0, 5FBN, 5FBO, 5J87, 5JRS, 5KUP, 5P9F, 5P9G, 5P9H, 5P9I, 5P9J, 5P9K, 5P9L, 5P9M, 5T18, 5U9D
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00169	PH	4 → 133	PH domain	Domain
  PF00779	BTK	141 → 170	BTK motif	Motif
  PF00018	SH3_1	220 → 266	SH3 domain	Domain
  PF00017	SH2	281 → 362	SH2 domain	Domain
  PF07714	PK_Tyr_Ser-Thr	402 → 651	Protein tyrosine and serine/threonine kinase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in B-lymphocytes.
• Sequence:

  MAAVILESIFLKRSQQKKKTSPLNFKKRLFLLTVHKLSYYEYDFERGRRGSKKGSIDVEK
  ITCVETVVPEKNPPPERQIPRRGEESSEMEQISIIERFPYPFQVVYDEGPLYVFSPTEEL
  RKRWIHQLKNVIRYNSDLVQKYHPCFWIDGQYLCCSQTAKNAMGCQILENRNGSLKPGSS
  HRKTKKPLPPTPEEDQILKKPLPPEPAAAPVSTSELKKVVALYDYMPMNANDLQLRKGDE
  YFILEESNLPWWRARDKNGQEGYIPSNYVTEAEDSIEMYEWYSKHMTRSQAEQLLKQEGK
  EGGFIVRDSSKAGKYTVSVFAKSTGDPQGVIRHYVVCSTPQSQYYLAEKHLFSTIPELIN
  YHQHNSAGLISRLKYPVSQQNKNAPSTAGLGYGSWEIDPKDLTFLKELGTGQFGVVKYGK
  WRGQYDVAIKMIKEGSMSEDEFIEEAKVMMNLSHEKLVQLYGVCTKQRPIFIITEYMANG
  CLLNYLREMRHRFQTQQLLEMCKDVCEAMEYLESKQFLHRDLAARNCLVNDQGVVKVSDF
  GLSRYVLDDEYTSSVGSKFPVRWSPPEVLMYSKFSSKSDIWAFGVLMWEIYSLGKMPYER
  FTNSETAEHIAQGLRLYRPHLASEKVYTIMYSCWHEKADERPTFKILLSNILDVMDEES

• Sequence length: 659

Pathways

KEGG:

NF-kappa B signaling pathway
Osteoclast differentiation
Platelet activation
B cell receptor signaling pathway
Fc epsilon RI signaling pathway
Epstein-Barr virus infection
Primary immunodeficiency

Reactome:

ER-Phagosome pathway
MyD88:MAL(TIRAP) cascade initiated on plasma membrane
Regulation of actin dynamics for phagocytic cup formation
DAP12 signaling
FCERI mediated Ca+2 mobilization
G alpha (q) signalling events
G alpha (12/13) signalling events
MyD88 deficiency (TLR2/4)
IRAK4 deficiency (TLR2/4)
RHO GTPases Activate WASPs and WAVEs
G beta:gamma signalling through BTK
FCGR3A-mediated phagocytosis
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers

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
Autosomal recessive agammaglobulinemia 1	Likely pathogenic; Pathogenic	rs128620183, rs128620185, rs128621193, rs128621201, rs128621204, rs1555976766, rs1555977461, rs1555977580, rs1555977592, rs1555977598, rs1555978024, rs1555978197, rs1555978277, rs1555978891, rs1555980049, rs1555980799, rs1555980866	RCV000581245 RCV000583846 RCV000583310 RCV000582314 RCV000581337 RCV000584073 RCV000582836 RCV000584147 RCV000582912 RCV000583545 RCV000583457 RCV000582158 RCV000584540 RCV000582068 RCV000584393 RCV000583173 RCV000581927	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BTK-related disorder	Likely pathogenic; Pathogenic	rs2520571628, rs1603019594	RCV003412315 RCV004723169	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Common variable immunodeficiency	Likely pathogenic	rs2520528329	RCV003493994	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inherited Immunodeficiency Diseases	Likely pathogenic; Pathogenic	rs128620188, rs1569296295, rs1057520578, rs1603007888, rs1603008329	RCV001027550 RCV001027548 RCV001027547 RCV001027551 RCV001027552	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic; Likely pathogenic	rs2147428155, rs2147429777, rs2520540378, rs2520573356, rs1927036027, rs1569296295, rs1569293252, rs1603007942, rs1603005659, rs1926404536, rs1926358858, rs1926563964	RCV005910998 RCV005912638 RCV005930333 RCV005930334 RCV005930335 RCV005897394 RCV005897393 RCV005901987 RCV005912326 RCV005912485 RCV005909002 RCV005909173	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked agammaglobulinemia	Pathogenic; Likely pathogenic	rs2147428155, rs2147447513, rs2147424186, rs2147429948, rs2147427580, rs2147424879, rs2147430256, rs868983143, rs2147424169, rs1569292649, rs2147431031, rs782429199, rs886039555, rs2147447605, rs2147448164, rs2147428293, rs2520657043, rs2520574221, rs2520527745, rs104894770, rs2520668410, rs1555978777, rs128620183, rs128620184, rs128620187, rs128620188, rs128620185, rs128620186, rs128620189, rs864321660, rs864321661, rs864321662, rs864321663, rs128621190, rs864321664, rs864321665, rs1569293253, rs1569292813, rs128621191, rs128621192, rs128621193, rs128621194, rs128621195, rs128621196, rs2147430166, rs2147429013, rs128621198, rs128621199, rs41310709, rs128621201, rs128621202, rs2147425836, rs1569291215, rs128621204, rs128621205, rs128621206, rs128621207, rs128621208, rs128621209, rs128621210, rs128622211, rs128622212, rs1569292818, rs1131691354, rs886041148, rs2520694308, rs2520668256, rs2147425059, rs2520551116, rs2520611496, rs2520611258, rs1057521814, rs1064793859, rs1555977339, rs193922124, rs193922125, rs193922126, rs193922128, rs193922129, rs193922131, rs193922132, rs1555977592, rs1555978277, rs1555980049, rs1555980796, rs1555978412, rs1569292774, rs1569291644, rs1569292214, rs1569292021, rs1569292810, rs1569296295, rs1603019594, rs1569293252, rs1603001805, rs1603007942, rs1603001771, rs1603008381, rs782519139, rs1603005659, rs1926380106, rs1926614700, rs1927168815, rs1926710166, rs1927036604	RCV001594436 RCV001375563 RCV001530181 RCV001614470 RCV001795624 RCV001797968 RCV001810518 RCV001822089 RCV001824256 RCV002052261 RCV002243532 RCV002243533 RCV002243534 RCV002243535 RCV002243536 RCV002273124 RCV002283934 RCV002290390 RCV002319758 RCV003140461 RCV003140473 RCV003142242 RCV000012095 RCV000012096 RCV000012097 RCV000012098 RCV000012101 RCV000012102 RCV000012104 RCV000012105 RCV000012106 RCV000012107 RCV000012108 RCV000012109 RCV000012110 RCV000012111 RCV000012112 RCV000012113 RCV000012114 RCV000012115 RCV000012116 RCV000012117 RCV000012119 RCV000012120 RCV000012121 RCV000012122 RCV000012125 RCV000012126 RCV000012127 RCV000012128 RCV000012130 RCV000012131 RCV000012132 RCV000012135 RCV000012136 RCV000012137 RCV000012138 RCV000012139 RCV000012140 RCV000012141 RCV000012142 RCV000012143 RCV000012145 RCV000012147 RCV000012148 RCV000012149 RCV000781189 RCV003326717 RCV003236272 RCV003988730 RCV003990743 RCV004547308 RCV004577086 RCV005860078 RCV004720259 RCV003150249 RCV000029409 RCV000029410 RCV000029411 RCV000029413 RCV000029414 RCV000029416 RCV000029417 RCV002266990 RCV001192716 RCV000586376 RCV000589435 RCV000589843 RCV000587879 RCV000727543 RCV003224377 RCV000757938 RCV000780074 RCV000780073 RCV000780072 RCV000780070 RCV000780071 RCV000990916 RCV001796233 RCV000990915 RCV000990918 RCV000990919 RCV001869427 RCV001194091 RCV001192717 RCV001192718 RCV003984854 RCV005861214 RCV001250190	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked agammaglobulinemia with growth hormone deficiency	Pathogenic; Likely pathogenic	rs2147428155, rs1927166327, rs1926219727, rs2147427562, rs2147429777, rs2147435832, rs2147444958, rs128620185, rs2147448284, rs886041148, rs1409835623, rs2147429973, rs2147433246, rs1603001805, rs2147427505, rs782820524, rs2147444867, rs2147443380, rs2147427470, rs2147425053, rs2147427209, rs2147423955, rs2147430161, rs2147447393, rs2147448137, rs2147419969, rs1313261352, rs2147427255, rs2147425786, rs2147429797, rs1569292649, rs782429199, rs2520527745, rs2520527086, rs2520527377, rs2520528219, rs1603001846, rs2520529056, rs2520533213, rs2520533445, rs2520534125, rs2147424988, rs1555977496, rs2520540378, rs1555977598, rs2520551846, rs2520564210, rs2147429006, rs2520573356, rs2520611305, rs2520611436, rs1927036027, rs2520693959, rs2520695220, rs2520570662, rs2520540499, rs2520501798, rs2520551638, rs2520528778, rs2520605467, rs2520526514, rs1603010485, rs2520553985, rs2520573659, rs886039555, rs128620183, rs128620187, rs128620188, rs864321659, rs128620186, rs864321660, rs864321662, rs864321664, rs864321665, rs128621192, rs128621193, rs128621194, rs128621197, rs128621201, rs128621202, rs128621204, rs128621207, rs104894770, rs886041149, rs2520657374, rs2520668390, rs193922132, rs2147419990, rs2520526807, rs1555977339, rs2520528716, rs2520533109, rs1603002341, rs2520573512, rs2520579087, rs2147431970, rs1569293252, rs2520610529, rs2147435884, rs2520528927, rs2520558559, rs2520534155, rs2520589915, rs2520656988, rs1603003195, rs2520573534, rs2520574237, rs2520668139, rs2520611413, rs1057521814, rs1064793859, rs193922128, rs193922129, rs193922131, rs1555980875, rs1555977592, rs1555978277, rs1555980049, rs1569295678, rs1555977474, rs1569291644, rs1569292021, rs1569292810, rs1569296295, rs1603019594, rs1603002367, rs1603002421, rs1603004481, rs1603004514, rs1603005073, rs1603005139, rs1603008349, rs1603008449, rs1603009890, rs1603017538, rs1603019535, rs1603020228, rs1603007942, rs1603008381, rs1603005659, rs1926352588, rs1926378381, rs1926503277, rs1926711302, rs1926977049, rs1927172387, rs1926404279, rs1926404536, rs128621210, rs1926614700, rs1927168815, rs1926358858, rs1926710166, rs1926477495, rs1926696248, rs1926708861, rs1927146374, rs1926588125, rs1926563302, rs1926563964, rs1926220192	RCV003512114 RCV001334183 RCV001352189 RCV001384084 RCV001384085 RCV001389175 RCV001391023 RCV001389176 RCV001381525 RCV003512135 RCV001870380 RCV001923088 RCV001923105 RCV001984261 RCV001960621 RCV001872231 RCV001910950 RCV001934601 RCV001906942 RCV002000065 RCV002024646 RCV002013402 RCV002048047 RCV002048069 RCV001972436 RCV001894119 RCV001958648 RCV001956174 RCV002000761 RCV001983050 RCV002551234 RCV003093931 RCV003512147 RCV003064750 RCV003064751 RCV003064753 RCV003064754 RCV003050633 RCV003064755 RCV003050634 RCV003041461 RCV003041462 RCV003041463 RCV003041464 RCV003064756 RCV003064757 RCV003064758 RCV003064759 RCV003050636 RCV003041465 RCV003041466 RCV003041467 RCV003041468 RCV003066347 RCV002824000 RCV002852757 RCV002875709 RCV002872013 RCV002913174 RCV002933388 RCV002967463 RCV003025522 RCV003016643 RCV003023500 RCV005090299 RCV001204367 RCV005089231 RCV002512977 RCV000012100 RCV000819061 RCV003511976 RCV005089232 RCV003511977 RCV005089233 RCV000691136 RCV003511978 RCV001221640 RCV001384086 RCV000012124 RCV001061773 RCV000637056 RCV000816209 RCV003511979 RCV005089234 RCV002518801 RCV000811748 RCV003512863 RCV003512939 RCV003511617 RCV003513677 RCV003513678 RCV003513679 RCV003513680 RCV003513681 RCV003513682 RCV003513683 RCV003513684 RCV003513686 RCV003513687 RCV003513689 RCV003513690 RCV003513691 RCV003513692 RCV003513693 RCV003513694 RCV003512705 RCV003625122 RCV003625182 RCV003625279 RCV003625409 RCV003625402 RCV003625546 RCV003625829 RCV003625831 RCV003625888 RCV000798428 RCV002250636 RCV001857258 RCV000698891 RCV001055502 RCV002513237 RCV001852584 RCV000707368 RCV000637053 RCV000690161 RCV003512058 RCV000637052 RCV000703916 RCV000702940 RCV000692851 RCV001055303 RCV003512079 RCV001873186 RCV000810868 RCV001039149 RCV000799270 RCV000801871 RCV000801257 RCV000824301 RCV000820887 RCV000799991 RCV000813278 RCV000813201 RCV000816130 RCV000799583 RCV000806263 RCV000824441 RCV000795926 RCV000814965 RCV000806755 RCV000798381 RCV000801814 RCV003512092 RCV002549158 RCV001057527 RCV001057292 RCV001053798 RCV001046699 RCV001041939 RCV001070338 RCV001064751 RCV001047903 RCV003512109 RCV001244642 RCV001217971 RCV001209246 RCV001212558 RCV001211890 RCV001205797 RCV001203420 RCV001210457 RCV001230353 RCV001235566 RCV001245402 RCV001234551 RCV001243870 RCV001386308	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BRUTON TYPE AGAMMAGLOBULINEMIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRUTON-TYPE AGAMMAGLOBULINEMIA	—	ClinGen, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADOTROPIC HYPOGONADISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOPITUITARISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC GROWTH HORMONE DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Isolated congenital growth hormone deficiency	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KALLMANN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANHYPOPITUITARISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY DWARFISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY SHORT STATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHEEHAN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED HYPOGAMMAGLOBULINEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Hypogammaglobulinemia	Common Variable Immunodeficiency	BEFREE	10194166		★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	8283037		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	12854903, 27956037		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	26715645		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	28580661		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	12854903		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	24970801, 26540570, 28178345, 29690649, 30401751, 30872780		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	28561533		★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	BEFREE	10080529, 10604987, 10859027, 11034248, 12958074, 16159644, 17045652, 17765309, 26387629, 28990652, 30240888, 31059734, 31378960, 7524098, 8090769		★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	CLINVAR_DG	10352268		★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	Pubtator	10859027, 11686883, 12958074, 30619340, 36056138, 37904676	Associate	★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	LHGDN	11438999, 12001708, 12405164, 14974089, 17707910, 18726917		★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	CTD_human_DG	15142874		★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE	Agammaglobulinemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic Autoimmune	Autoimmune hemolytic anemia	Pubtator	31392938	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	30333099		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	26715645		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	29943223		★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	31431692		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	24764451, 28507715, 29324347		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	37669474	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	32365786, 33389462, 38350168, 40594127	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	24383975	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	31505252		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	31031187		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	38211337	Inhibit	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	10370369, 24778403, 26341110, 27226091, 27669440, 27821712, 27932211, 28141917, 28742141, 28882879, 29293382, 29324347, 29403475, 29457982, 29483358, 29631132, 29652138, 29699458, 29717662, 29741794, 30521698, 30578026, 30685871, 30881616, 30888232, 30893553, 30988116, 31172362, 31316181, 31395509, 31431692, 31457731, 31616406, 31809536, 31843459		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	31616406, 36521376	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	22449073, 26627823, 27434128, 27792904, 28416797, 28626519, 28661188, 29146136, 29532266, 29781323, 29983879, 30006143, 30052472, 30190023, 30522954, 30815927, 31217352, 31234030, 31381333, 31395509, 31751484, 31808904		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	30416684		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	25109505		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	31087308		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	29383704, 32986868	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	23456977		★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23913792, 27256378		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23913792, 33760219	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	Pubtator	33013854	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiolitis Obliterans	Bronchiolitis obliterans	Pubtator	35382780	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopneumonia	Bronchopneumonia	Pubtator	24383975	Associate	★☆☆☆☆ Found in Text Mining only
Bruton type agammaglobulinemia	Bruton type agammaglobulinemia	Pubtator	10196129, 10556826, 10561498, 10590061, 10688822, 10859027, 10887125, 10930571, 11206059, 11433390, 11577078, 11686883, 11877289, 12370281, 12487187, 12958074, 15466623, 16862044, 16913189, 17090647, 18306466, 19268935, 20721470, 21039741, 21238622, 21609956, 21738355, 21905506, 22053596, 22289994, 22378381, 22927353, 23549506, 24383975, 24658450, 24885015, 25316352, 27512878, 28422989, 28754963, 29424453, 29503650, 30147693, 30559311, 30564228, 31481959, 31510946, 32117230, 32385234, 32552675, 32615664, 33013854, 33224144, 33235662, 33261572, 33377626, 33453577, 33876953, 34252140, 34863924, 35288819, 35382780, 37197664, 37809070, 37904676, 39434672, 40225173, 7519238, 7629518, 7929028, 8013627, 8090769, 8594569, 8644706, 8695804, 8898377, 9016530, 9106525, 9260159, 9280283, 9399844, 9414287, 9427714, 9446655, 9545398, 9880544	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bruton type agammaglobulinemia	Bruton type agammaglobulinemia	Pubtator	10480303	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	28474336, 9880544	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	30546948		★☆☆☆☆ Found in Text Mining only
Carbamoyl-Phosphate Synthase I Deficiency Disease	Carbamoyl Phosphate Synthase Deficiency	BEFREE	31185757		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	35732327	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33013854	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	23782158	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	37644056	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	21832999		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	12854903		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	26880455		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	21422473, 22279054, 22975686, 24054703, 24103588, 24311722, 24778403, 24869598, 25189416, 25201956, 25294819, 25329694, 25795921, 25858358, 25936528, 25972157, 26182309, 26618342, 26627823, 26641137, 26690614, 26717038, 27082823, 27198718, 27199251, 27456945, 27479178, 27480113, 27535981, 27542411, 27579538, 27626175, 27626698, 27697038, 27756747, 27776353, 27903679, 28034907, 28077600, 28096090, 28111464, 28138560, 28155013, 28185174, 28212557, 28271950, 28295729, 28373262, 28416773, 28418267, 28561533, 28627951, 28645939, 28661188, 28714866, 28901789, 28942659, 28972595, 29099493, 29125406, 29246803, 29263930, 29301866, 29381098, 29476222, 29480432, 29484684, 29559479, 29560128, 29743179, 29851337, 29899839, 30011241, 30018078, 30045682, 30093506, 30125946, 30134797, 30361685, 30381956, 30416684, 30468254, 30498085, 30508305, 30542637, 30558987, 30663221, 30686074, 30692684, 30700840, 30737226, 30815927, 30881616, 30888232, 30959203, 31028669, 31076570, 31088809, 31171644, 31180577, 31196847, 31217352, 31243043, 31363127, 31392938, 31638169, 31682002, 31699465, 31726100, 31732977, 31764124, 31766355, 31801949, 31821686		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	25379804		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29160911		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31238520, 31518438		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26804170	Associate	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	10194166, 10844531, 11472409, 18051214, 24069364, 30240888, 31059734		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	10844531, 11472409, 11520777	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Conjunctivitis	Conjunctivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cor pulmonale	Cor pulmonale	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	36634823	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	36736734	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	36736734, 38034011	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic Foot	BEFREE	31644524		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	24970801, 25847947, 26540570, 26961147, 28178345, 28352655, 28428442, 28460620, 29172502, 29386196, 29496671, 29567799, 29690649, 30401751, 30777096, 30872780, 30884247, 30907011, 31432184, 31801949, 31831562, 8283037		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	8013627	Associate	★☆☆☆☆ Found in Text Mining only
Dysgammaglobulinemia	Dysfibrinogenemia	Pubtator	19903677	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	33013854	Inhibit	★☆☆☆☆ Found in Text Mining only
Dystonia Musculorum Deformans	Dystonia	BEFREE	7959728		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	22982637		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	31247078		★☆☆☆☆ Found in Text Mining only
Epididymitis	Epididymitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	31392938		★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	BEFREE	7626884		★☆☆☆☆ Found in Text Mining only
Genetic Predisposition to Disease	Genetic predisposition to disease	Pubtator	30508305	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24603851, 28716053, 31628288		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	24603851, 28716053, 30733667, 31628288		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28946903, 29467892, 30733667		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34645618, 34784299, 38381384	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	33389462	Stimulate	★☆☆☆☆ Found in Text Mining only
Glossoptosis	Glossoptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	31688198		★☆☆☆☆ Found in Text Mining only
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	BEFREE	31209475		★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	35980936	Associate	★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	36521376	Stimulate	★☆☆☆☆ Found in Text Mining only
Hairy Cell Leukemia	Hairy Cell Leukemia	BEFREE	24697238, 25563425, 26614894, 31628266		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	40022006	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	33013854	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	31074018		★☆☆☆☆ Found in Text Mining only
Hemangioma, Cavernous	Hemangioma, Cavernous	BEFREE	28546918		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	25083818, 26473415, 28424405, 28641100, 29285806, 30018078, 30093506, 30888232, 31381333, 31395509, 31624110, 31638169, 31688198, 31843459		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	30413649		★☆☆☆☆ Found in Text Mining only
Hemolysis	Hemolysis	Pubtator	31392938	Associate	★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	30545924		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	32986868	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhagic Disorders	Hemorrhagic disease	Pubtator	38211337	Inhibit	★☆☆☆☆ Found in Text Mining only
Hereditary Leiomyomatosis and Renal Cell Cancer	Hereditary Leiomyomatosis and Renal Cancer	BEFREE	27157620, 27742706, 31031018		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	25670208, 28561533		★☆☆☆☆ Found in Text Mining only
Hyper-IgM Immunodeficiency Syndrome, Type 1	Hyper-IgM Immunodeficiency Syndrome	BEFREE	11987983		★☆☆☆☆ Found in Text Mining only
Hypogammaglobulinemia	Hypogammaglobulinemia	BEFREE	10194166, 11685467, 11686883, 8425221		★☆☆☆☆ Found in Text Mining only
Hypogammaglobulinemia	Hypogammaglobulinemia	CTD_human_DG	15142874		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31651327		★☆☆☆☆ Found in Text Mining only
IgG Deficiency disorder	IgG Deficiency Disorder	BEFREE	29709555		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	23774691, 31368705		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	26017814, 37197664, 37325673	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	17045652, 29142210, 8090769, 8193484, 9260159		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	16264330, 8013627		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	24112608		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	28405610, 30339790		★☆☆☆☆ Found in Text Mining only
Large cell carcinoma of lung	Lung Carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	16141323, 22449073, 27669440, 27671297, 28077600, 29347836, 30888232, 30920458, 31688198		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	16141323, 33226337, 40516328, 9880544	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Hairy Cell	Hairy cell leukemia	Pubtator	24697238	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	24307721, 25605370, 26292723, 32915972, 35624145	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Mast-Cell	Leukemia	BEFREE	27157620, 27742706, 31031018, 8283037		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	24307721, 25294819, 26292723, 26624983, 31227358, 31310800, 31688198, 8258324, 9753052		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	16160918, 8938104		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31582534		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	35382780	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	21720246, 26341110, 27226091, 28405610, 29370834, 29403475, 30893553		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	21720246, 26341110, 27226091, 28405610, 29370834, 29403475, 30893553		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	21720246, 26341110, 27226091, 28118202, 28405610, 28612243, 28626519, 28950886, 29370834, 29403475, 29457982, 29717662, 30893553, 30988116		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	28391340, 28612243, 28950886, 30339790		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	33389462	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	21720246, 26341110, 27226091, 28405610, 29370834, 29403475, 30893553		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	39925800	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	31481959, 33013854	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	27956037		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	18241233, 18930021, 25795921, 26383180, 26540570, 26961147, 27127301, 27671297, 27792904, 27854034, 28064239, 29483358, 30011241, 30888232, 31355927, 31688198, 8688094		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	Pubtator	28619981, 33226337	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma Follicular	Lymphoma	Pubtator	16835385, 24357726, 28064239, 29074501, 33419778, 33579791	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	28295729, 29074501		★☆☆☆☆ Found in Text Mining only
Lymphoma, Large-Cell, Follicular	Lymphoma	BEFREE	30693983		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	28629235, 30693983		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	28629235, 30693983		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	26387629, 31378960		★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	23962569, 24778403, 25082755, 25189416, 25797245, 26961147, 26970573, 27157620, 27756747, 28905990, 29241979, 29392403, 29590547, 29912596, 30052472, 30413649, 30453157, 30558987, 30663221, 30862686, 30927175, 30940906, 31031018, 31171645, 31685258		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23913792, 27256378		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	28830912		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	26715645, 30635655		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26383180, 27564106, 30012673		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26960951		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10370369, 22449073, 23581641, 23672610, 24307721, 24567371, 24778403, 24811161, 25294819, 25589346, 25669675, 25670208, 25858358, 26341110, 26624983, 27256378, 27282255, 27564106, 27571029, 27903679, 28034907, 28298527, 28343126, 28424405, 28536906, 28543084, 28552326, 28558959, 28619981, 28760303, 28882879, 28901789, 29074501, 29080970, 29108275, 29209955, 29293382, 29348577, 29454849, 29455639, 29483220, 29561760, 29631132, 29652138, 29669753, 29703722, 29741794, 29851337, 29851546, 29869556, 30026342, 30029202, 30045682, 30077698, 30093506, 30108960, 30243592, 30280589, 30337526, 30390220, 30506764, 30521698, 30545835, 30556110, 30618187, 30663221, 30685871, 30700840, 30706214, 30760494, 30881616, 30888232, 30927175, 30943993, 31019091, 31082751, 31087308, 31138459, 31172362, 31200752, 31316181, 31340982, 31364164, 31364190, 31368705, 31431692, 31457731, 31646085, 31801949, 31809536		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	26804170, 29160911, 31518438		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	24074005		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CLINVAR_DG	24869598		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	22615102, 23962569, 24273091, 24778403, 25082755, 25189416, 25388373, 25797245, 25858358, 26103436, 26961147, 26970573, 27127301, 27157620, 27626175, 27742706, 27756747, 28011673, 28063897, 28295729, 28661188, 28699667, 28905990, 29241979, 29296874, 29392403, 29441438, 29483220, 29590547, 29615403, 29737219, 29912596, 29983879, 30052472, 30115641, 30361685, 30413649, 30453157, 30510142, 30545835, 30558987, 30638402, 30663221, 30692121, 30723172, 30857748, 30862686, 30888232, 30927175, 30940906, 30967367, 31031018, 31068440, 31171645, 31534006, 31638169, 31685258, 31686856, 31738609, 31808882		★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	21680801	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	33177155	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	31740673		★☆☆☆☆ Found in Text Mining only
MOHR-TRANEBJAERG SYNDROME	MOHR-TRANEBJAERG SYNDROME	BEFREE	21753765		★☆☆☆☆ Found in Text Mining only
Muckle-Wells Syndrome	Muckle-Wells Syndrome	BEFREE	28216434		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	22689860, 22975686, 23456977, 23581641, 25083818, 25565020, 25589346, 28647392, 28915637, 31396324		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	25565020, 34792571, 35985681	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	31075187		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	35303161, 35852869, 38254312	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	18726917		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	LHGDN	18726917		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28065931		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22689860, 23913792, 24970801, 25589346, 25805587, 26383180, 26627823, 27127301, 27697038, 27756747, 28028621, 28178345, 28265007, 28424405, 28612243, 28641100, 28645939, 28647392, 28830912, 29455639, 29567799, 30337526, 30373751, 30413649, 31582534, 31624110, 31628288		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	30339790		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	30013190		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30758770		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	Pubtator	12487187	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	16160918, 8938104		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	38211337	Inhibit	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25214559, 27626175, 31200752		★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30592267		★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	39925800	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	26715645, 30635655		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	30635655		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32114502	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	31431692		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	36634823	Associate	★☆☆☆☆ Found in Text Mining only
Periapical Periodontitis	Periapical Periodontitis	BEFREE	30818138		★☆☆☆☆ Found in Text Mining only
Pituitary dwarfism	Pituitary dwarfism	BEFREE	16264330, 8013627		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycythemia	Polycythemia	Pubtator	12515724	Associate	★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	11809909, 18682105, 23465663, 25591849, 28031181, 28432946, 29567295, 30881616, 8152253		★☆☆☆☆ Found in Text Mining only
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	24811161		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	12854903, 27956037		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	12854903		★☆☆☆☆ Found in Text Mining only
Primary central nervous system lymphoma	Central Nervous System Lymphoma	BEFREE	28552326, 28619981, 29476222, 30423172		★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	18776760, 25680287, 29424453		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26383180, 27564106, 30012673		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	26383180		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26383180	Associate	★☆☆☆☆ Found in Text Mining only
prostatitis	Prostatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pyoderma	Pyoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	31209475		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	25085625		★☆☆☆☆ Found in Text Mining only
Reticulosarcoma	Reticulosarcoma	BEFREE	8283037		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	19342689, 24764451, 26341110, 27821712, 28141917, 28279528, 28352114, 28720503, 28742141, 29198867, 29324347, 29457982, 29546831, 29717662, 30216722, 30875504, 30893553, 30988116, 31172362, 31209475, 31247719, 31260299, 31495833		★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	31392938	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma, Epithelioid	Sarcoma	BEFREE	31392938		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	30559311	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	31552054		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	22927353, 30564228	Associate	★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	26856578		★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	35563492	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	29370834		★☆☆☆☆ Found in Text Mining only
Small Lymphocytic Lymphoma	Lymphocytic Leukemia	BEFREE	28373262, 31638169, 31766355		★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	9554752		★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	29348577		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	37685940	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26960951		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	29383704	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	40594127	Associate	★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom`s Macroglobulinemia	BEFREE	23836557, 26196236, 27287071, 27776353, 27813535, 27825462, 27825466, 27825467, 28043164, 28331368, 28366781, 28617062, 29222280, 29496671, 29869556, 29996737, 30045682, 30190023, 30401751, 31184501, 31527073, 31591468		★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom macroglobulinemia	Pubtator	23836557, 27143257, 28235842, 28548645, 29869556, 34253577, 36282673, 38211337	Associate	★☆☆☆☆ Found in Text Mining only
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	BEFREE	10068673, 30564228		★☆☆☆☆ Found in Text Mining only
X-linked agammaglobulinemia	Agammaglobulinemia, X-Linked	BEFREE	10080529, 10194166, 10201980, 10220140, 10352268, 10590911, 10612838, 10678660, 10688822, 10737994, 10754312, 10792386, 10811867, 10844531, 10859027, 10887125, 10930571, 11027452, 11036800, 11087675, 11102316, 11102984, 11206059, 11213806, 11241495, 11286545, 11438999, 11444380, 11472359, 11527964, 11555397, 11564824, 11598012, 11668622, 11686883, 11717191, 11742281, 11809909, 11877289, 11892085, 11920841, 11987983, 12148599, 12200606, 12204007, 12217331, 12370281, 12378199, 12405164, 12442285, 12655572, 12768435, 12810683, 12823285, 14635468, 14974089, 15024743, 15082835, 15142874, 15176720, 15661031, 15661032, 15712380, 16159644, 16644721, 16712653, 16729790, 16751014, 16926138, 16969761, 17045652, 17090647, 17410177, 17765309, 1791882, 17967562, 17969561, 18241233, 18306466, 18317803, 18726917, 18776760, 19039656, 19268935, 1934617, 19419768, 20093406, 20122858, 20634142, 20721470, 21039741, 21518255, 21609956, 21635151, 21905506, 22053596, 22378381, 22589540, 22982637, 23481495, 23672610, 23774691, 24074005, 24383975, 24612681, 24658450, 24771458, 24778403, 25105368, 25316352, 25589397, 25591849, 25638286, 25680287, 26280081, 26341110, 26960951, 27512878, 27593100, 27669440, 28216434, 28422989, 28754963, 28761297, 28769069, 29202590, 29424453, 29455639, 29503650, 29717662, 3003164, 30072168, 30147693, 30920458, 31087308, 31115091, 31185757, 31189594, 31378960, 31457731, 31510946, 31740078, 31803177, 31821668, 31830942, 7519238, 7528500, 7541776, 7626884, 7627183, 7650402, 7711734, 7849697, 7880320, 7927535, 7929028, 7959728, 7989760, 8013627, 8034298, 8162018, 8162056, 8193484, 8274198, 8283037, 8425221, 8562928, 8588584, 8594569, 8644706, 8695804, 8723128, 8758136, 8834236, 8890099, 8898377, 8934542, 8938104, 8939985, 9016530, 9030858, 9106525, 9143921, 9159207, 9192269, 9201297, 9218782, 9260159, 9280283, 9341757, 9399844, 9414287, 9427714, 9445504, 9485443, 9486400, 9554752, 9571151, 9753052, 9780159, 9884350		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked agammaglobulinemia	Agammaglobulinemia, X-Linked	UNIPROT_DG	10220140, 10612838, 10678660, 7627183, 7633420, 7633429, 7711734, 7809124, 7849006, 7849697, 7849721, 7880320, 7897635, 8013627, 8162018, 8162056, 8594569, 8634718, 8695804, 8723128, 8834236, 9016530, 9260159, 9280283, 9445504, 9545398		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked agammaglobulinemia	Agammaglobulinemia, X-Linked	CLINVAR_DG	10737994, 10887125, 11102984, 11742281, 11809909, 12405164, 12655572, 15661032, 16160918, 16712653, 19039656, 19904586, 21397315, 27512878, 7633429, 7849697, 8695804, 9445504, 9545398		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked agammaglobulinemia	Agammaglobulinemia, X-Linked	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked agammaglobulinemia	Agammaglobulinemia, X-Linked	GENOMICS_ENGLAND_DG	26350204		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked agammaglobulinemia	Agammaglobulinemia, X-Linked	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked agammaglobulinemia with growth hormone deficiency	Agammaglobulinemia With Growth Hormone Deficiency, X-Linked	CLINVAR_DG	10737994, 11472359, 11668622, 11742281, 12204007, 12217331, 12405164, 12655572, 15661032, 16951917, 17765309, 18677443, 19904586, 20529312, 23424595, 27980540, 28359783, 7633429, 7711734, 7849721, 7880320, 8695804, 8938104, 8939985, 9143921, 9260159, 9445504, 9545398		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked agammaglobulinemia with growth hormone deficiency	Agammaglobulinemia With Growth Hormone Deficiency, X-Linked	ORPHANET_DG	22139958, 8013627, 9554752		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked agammaglobulinemia with growth hormone deficiency	Agammaglobulinemia With Growth Hormone Deficiency, X-Linked	GENOMICS_ENGLAND_DG	26350204, 9554752		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked agammaglobulinemia with growth hormone deficiency	Agammaglobulinemia With Growth Hormone Deficiency, X-Linked	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-Linked Combined Immunodeficiency Diseases	Combined Immunodeficiency, X-Linked	BEFREE	11087675, 9287186, 9389302		★☆☆☆☆ Found in Text Mining only
Young Syndrome	Young syndrome	Pubtator	33013854	Associate	★☆☆☆☆ Found in Text Mining only