GATA2 (GATA binding protein 2)

Gene

• Entrez ID: 2624
• Gene name: GATA binding protein 2
• Gene symbol: GATA2
• Synonyms (NCBI Gene): DCML, IMD21, MONOMAC, NFE1B
• Chromosome: 3
• Chromosome location: 3q21.3
• Summary: This gene encodes a member of the GATA family of zinc-finger transcription factors that are named for the consensus nucleotide sequence they bind in the promoter regions of target genes. The encoded protein plays an essential role in regulating transcript

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs142993548	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs143590990	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs376003468	G>A,T	Likely-pathogenic, likely-benign	Missense variant, coding sequence variant, synonymous variant
rs387906629	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs387906630	G>A,C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs387906631	G>A	Likely-pathogenic, risk-factor, pathogenic	Missense variant, coding sequence variant
rs387906632	G>A	Pathogenic	Coding sequence variant, stop gained
rs387906633	A>G	Pathogenic	Missense variant, coding sequence variant
rs387906634	C>A	Pathogenic	Missense variant, coding sequence variant
rs750890699	G>A,T	Likely-benign, likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs764747992	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs768767517	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant
rs797045591	A>G	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs797045592	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs863224874	->GAGG	Pathogenic	Frameshift variant, coding sequence variant
rs867160952	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs869320668	C>A	Pathogenic	Splice acceptor variant, intron variant
rs869320734	TTGGCGTTTCGG>-	Pathogenic	Inframe deletion, coding sequence variant
rs869320735	T>GC	Pathogenic	Frameshift variant, coding sequence variant
rs869320770	->GCCG	Pathogenic, likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1313081073	T>A,G	Likely-pathogenic	Intron variant, synonymous variant, stop gained, coding sequence variant
rs1426175410	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs1553770434	C>T	Pathogenic	Missense variant, coding sequence variant
rs1553770510	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1553770655	TGCAGATGTCCGGATAGGAAACTCCGGC>-	Pathogenic	Intron variant
rs1553770949	->GTCAG	Pathogenic, likely-pathogenic	Inframe insertion, stop gained, coding sequence variant
rs1553770978	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1553771050	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1559985787	G>A	Pathogenic, likely-pathogenic	Intron variant
rs1559986109	->TGGCCCCACAGTTG	Pathogenic	Frameshift variant, coding sequence variant
rs1559986946	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1576744529	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1576744575	->GT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1576744594	AACC>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs1576744604	C>G	Likely-pathogenic	Splice acceptor variant
rs1576745225	TGT>-	Risk-factor	Coding sequence variant, inframe deletion
rs1576745256	C>T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1576745260	A>G	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1576745270	->GCTCTTCTGGCGGCCG	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1576745308	C>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1576745322	T>G	Likely-pathogenic	Intron variant, splice acceptor variant
rs1576746830	A>T	Pathogenic	Splice donor variant
rs1576746847	G>A	Pathogenic	Coding sequence variant, stop gained
rs1576746848	->TTCATCTTGTGGTAGAGGCCACAGG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1576746862	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1576746931	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1576748357	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1576748366	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1576748378	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1576748582	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1576748609	CGTCCTTGTCCTCTCCTCGGGCTGCACTACCCCCCGCGGAAGATGAGGCTGGAGACGCAGCCCCCGTGGTGCTAG>AGCCCCCGTGGTGCTA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1576748638	G>A	Pathogenic	Coding sequence variant, stop gained
rs1576748738	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1576749014	GGCCT>TAC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1576749168	->GG	Pathogenic	Frameshift variant, coding sequence variant
rs1576749301	->G	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029763	hsa-miR-26b-5p	Microarray	19088304
MIRT054893	hsa-miR-27a-3p	Luciferase reporter assay	23322776
MIRT054893	hsa-miR-27a-3p	Luciferase reporter assay	23322776
MIRT734853	hsa-miR-675-5p	Luciferase reporter assay, Western blotting, RNA-seq	33513878
MIRT1012484	hsa-miR-200b	CLIP-seq
MIRT1012485	hsa-miR-200c	CLIP-seq
MIRT1012486	hsa-miR-3117-5p	CLIP-seq
MIRT1012487	hsa-miR-3176	CLIP-seq
MIRT1012488	hsa-miR-3922-3p	CLIP-seq
MIRT1012489	hsa-miR-3923	CLIP-seq
MIRT1012490	hsa-miR-429	CLIP-seq
MIRT1012491	hsa-miR-4424	CLIP-seq
MIRT1012492	hsa-miR-4646-5p	CLIP-seq
MIRT1012493	hsa-miR-4704-5p	CLIP-seq
MIRT1012494	hsa-miR-4754	CLIP-seq
MIRT1012495	hsa-miR-4764-3p	CLIP-seq
MIRT1012496	hsa-miR-548ac	CLIP-seq
MIRT1012497	hsa-miR-548ae	CLIP-seq
MIRT1012498	hsa-miR-548aj	CLIP-seq
MIRT1012499	hsa-miR-548am	CLIP-seq
MIRT1012500	hsa-miR-548c-3p	CLIP-seq
MIRT1012501	hsa-miR-548d-3p	CLIP-seq
MIRT1012502	hsa-miR-548x	CLIP-seq
MIRT1012503	hsa-miR-548z	CLIP-seq
MIRT1012504	hsa-miR-586	CLIP-seq
MIRT1012505	hsa-miR-661	CLIP-seq
MIRT1999932	hsa-miR-1343	CLIP-seq
MIRT1999933	hsa-miR-1972	CLIP-seq
MIRT1999934	hsa-miR-409-3p	CLIP-seq
MIRT1999935	hsa-miR-4486	CLIP-seq
MIRT1999936	hsa-miR-4640-5p	CLIP-seq
MIRT1999937	hsa-miR-4717-5p	CLIP-seq
MIRT1999938	hsa-miR-4726-5p	CLIP-seq
MIRT1999939	hsa-miR-513a-5p	CLIP-seq
MIRT2233321	hsa-miR-103b	CLIP-seq
MIRT2233322	hsa-miR-105	CLIP-seq
MIRT2233323	hsa-miR-1207-5p	CLIP-seq
MIRT2233324	hsa-miR-128	CLIP-seq
MIRT2233325	hsa-miR-181a	CLIP-seq
MIRT2233326	hsa-miR-181b	CLIP-seq
MIRT2233327	hsa-miR-181c	CLIP-seq
MIRT2233328	hsa-miR-181d	CLIP-seq
MIRT2233329	hsa-miR-1827	CLIP-seq
MIRT2233330	hsa-miR-1913	CLIP-seq
MIRT1999933	hsa-miR-1972	CLIP-seq
MIRT2233331	hsa-miR-2110	CLIP-seq
MIRT2233332	hsa-miR-27a	CLIP-seq
MIRT2233333	hsa-miR-27b	CLIP-seq
MIRT2233334	hsa-miR-296-5p	CLIP-seq
MIRT1012487	hsa-miR-3176	CLIP-seq
MIRT2233335	hsa-miR-3178	CLIP-seq
MIRT2233336	hsa-miR-324-3p	CLIP-seq
MIRT2233337	hsa-miR-338-5p	CLIP-seq
MIRT2233338	hsa-miR-3612	CLIP-seq
MIRT2233339	hsa-miR-361-3p	CLIP-seq
MIRT2233340	hsa-miR-3661	CLIP-seq
MIRT2233341	hsa-miR-3691-3p	CLIP-seq
MIRT2233342	hsa-miR-376a	CLIP-seq
MIRT2233343	hsa-miR-376b	CLIP-seq
MIRT1012488	hsa-miR-3922-3p	CLIP-seq
MIRT2233344	hsa-miR-3943	CLIP-seq
MIRT2233345	hsa-miR-410	CLIP-seq
MIRT2233346	hsa-miR-4262	CLIP-seq
MIRT2233347	hsa-miR-4271	CLIP-seq
MIRT2233348	hsa-miR-4287	CLIP-seq
MIRT2233349	hsa-miR-4292	CLIP-seq
MIRT2233350	hsa-miR-4308	CLIP-seq
MIRT2233351	hsa-miR-4313	CLIP-seq
MIRT2233352	hsa-miR-4469	CLIP-seq
MIRT1999935	hsa-miR-4486	CLIP-seq
MIRT1012492	hsa-miR-4646-5p	CLIP-seq
MIRT2233353	hsa-miR-4685-3p	CLIP-seq
MIRT2233354	hsa-miR-4690-5p	CLIP-seq
MIRT1999937	hsa-miR-4717-5p	CLIP-seq
MIRT2233355	hsa-miR-4722-5p	CLIP-seq
MIRT2233356	hsa-miR-4725-3p	CLIP-seq
MIRT2233357	hsa-miR-4731-5p	CLIP-seq
MIRT2233358	hsa-miR-4736	CLIP-seq
MIRT2233359	hsa-miR-4749-3p	CLIP-seq
MIRT2233360	hsa-miR-4763-3p	CLIP-seq
MIRT2233361	hsa-miR-491-5p	CLIP-seq
MIRT1999939	hsa-miR-513a-5p	CLIP-seq
MIRT2233362	hsa-miR-515-5p	CLIP-seq
MIRT2233363	hsa-miR-543	CLIP-seq
MIRT2233364	hsa-miR-631	CLIP-seq
MIRT2233365	hsa-miR-650	CLIP-seq
MIRT2233323	hsa-miR-1207-5p	CLIP-seq
MIRT2233358	hsa-miR-4736	CLIP-seq
MIRT2233360	hsa-miR-4763-3p	CLIP-seq
MIRT2233337	hsa-miR-338-5p	CLIP-seq
MIRT2429285	hsa-miR-3613-5p	CLIP-seq
MIRT1999934	hsa-miR-409-3p	CLIP-seq
MIRT2233345	hsa-miR-410	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HDAC3	Repression	11567998
NANOG	Repression	15983365

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	27780851
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0001221	Function	Transcription coregulator binding	IPI	12483298
GO:0001223	Function	Transcription coactivator binding	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001525	Process	Angiogenesis	IEA
GO:0001655	Process	Urogenital system development	IEA
GO:0001709	Process	Cell fate determination	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0001892	Process	Embryonic placenta development	IEA
GO:0002067	Process	Glandular epithelial cell differentiation	IEA
GO:0002071	Process	Glandular epithelial cell maturation	IEA
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IDA	19242469
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	15016828, 20206639
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	7568177, 10938104, 16153155, 18250304, 20211142, 20705609, 21988832, 23887938, 25416956, 31515488, 32296183, 32814053, 35140242, 35512704
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	27780851
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005737	Component	Cytoplasm	IDA	27780851
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006909	Process	Phagocytosis	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IEA
GO:0007405	Process	Neuroblast proliferation	IEA
GO:0007406	Process	Negative regulation of neuroblast proliferation	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	22499991, 27780851
GO:0010629	Process	Negative regulation of gene expression	IMP	27780851
GO:0010725	Process	Regulation of primitive erythrocyte differentiation	IEA
GO:0021514	Process	Ventral spinal cord interneuron differentiation	IEA
GO:0021533	Process	Cell differentiation in hindbrain	IEA
GO:0021902	Process	Commitment of neuronal cell to specific neuron type in forebrain	IEA
GO:0021953	Process	Central nervous system neuron differentiation	IEA
GO:0021954	Process	Central nervous system neuron development	IEA
GO:0021983	Process	Pituitary gland development	IEA
GO:0030099	Process	Myeloid cell differentiation	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0033993	Process	Response to lipid	IEA
GO:0035019	Process	Somatic stem cell population maintenance	IEA
GO:0035854	Process	Eosinophil fate commitment	IDA	12045236
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0042551	Process	Neuron maturation	IEA
GO:0043306	Process	Positive regulation of mast cell degranulation	IEA
GO:0043536	Process	Positive regulation of blood vessel endothelial cell migration	IMP	22499991
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045165	Process	Cell fate commitment	IBA
GO:0045444	Process	Fat cell differentiation	IMP	20705609
GO:0045638	Process	Negative regulation of myeloid cell differentiation	IEA
GO:0045648	Process	Positive regulation of erythrocyte differentiation	IEA
GO:0045650	Process	Negative regulation of macrophage differentiation	IEA
GO:0045654	Process	Positive regulation of megakaryocyte differentiation	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045746	Process	Negative regulation of Notch signaling pathway	IDA	16672344
GO:0045766	Process	Positive regulation of angiogenesis	IBA
GO:0045766	Process	Positive regulation of angiogenesis	IDA	19242469
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0045766	Process	Positive regulation of angiogenesis	IMP	21788589
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	15016828, 16153155, 20206639, 21788589
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	19323994
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	19242469
GO:0046872	Function	Metal ion binding	IEA
GO:0048663	Process	Neuron fate commitment	IEA
GO:0048731	Process	System development	IEA
GO:0048873	Process	Homeostasis of number of cells within a tissue	IEA
GO:0050766	Process	Positive regulation of phagocytosis	IEA
GO:0050766	Process	Positive regulation of phagocytosis	ISS
GO:0050793	Process	Regulation of developmental process	IEA
GO:0050873	Process	Brown fat cell differentiation	IEA
GO:0060100	Process	Positive regulation of phagocytosis, engulfment	IEA
GO:0060129	Process	Thyroid-stimulating hormone-secreting cell differentiation	IEA
GO:0060216	Process	Definitive hemopoiesis	IEA
GO:0060872	Process	Semicircular canal development	IEA
GO:0061042	Process	Vascular wound healing	IMP	22499991
GO:0061101	Process	Neuroendocrine cell differentiation	IEA
GO:0061351	Process	Neural precursor cell proliferation	IEA
GO:0061484	Process	Hematopoietic stem cell homeostasis	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	15016828
GO:0070742	Function	C2H2 zinc finger domain binding	IPI	12483298
GO:0090050	Process	Positive regulation of cell migration involved in sprouting angiogenesis	IMP	27780851
GO:0090102	Process	Cochlea development	IEA
GO:0097154	Process	GABAergic neuron differentiation	IEA
GO:1901533	Process	Negative regulation of hematopoietic progenitor cell differentiation	IEA
GO:1902895	Process	Positive regulation of miRNA transcription	IBA
GO:1902895	Process	Positive regulation of miRNA transcription	IDA	27780851
GO:1902895	Process	Positive regulation of miRNA transcription	IGI	27780851
GO:1903444	Process	Negative regulation of brown fat cell differentiation	IEA
GO:1903589	Process	Positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis	IMP	27780851
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA
GO:2000178	Process	Negative regulation of neural precursor cell proliferation	IDA	16672344
GO:2000352	Process	Negative regulation of endothelial cell apoptotic process	IMP	21788589
GO:2000977	Process	Regulation of forebrain neuron differentiation	IEA

Other IDs

• MIM: 137295
• HGNC: 4171
• e!Ensembl: ENSG00000179348

Protein

• UniProt ID: P23769
• Protein name: Endothelial transcription factor GATA-2 (GATA-binding protein 2)
• Protein function: Transcriptional activator which regulates endothelin-1 gene expression in endothelial cells. Binds to the consensus sequence 5'-AGATAG-3'.
• PDB: 5O9B, 6ZFV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00320	GATA	295 → 329	GATA zinc finger	Domain
  PF00320	GATA	349 → 383	GATA zinc finger	Domain

• Tissue specificity: TISSUE SPECIFICITY: Endothelial cells.
• Sequence:

  MEVAPEQPRWMAHPAVLNAQHPDSHHPGLAHNYMEPAQLLPPDEVDVFFNHLDSQGNPYY
  ANPAHARARVSYSPAHARLTGGQMCRPHLLHSPGLPWLDGGKAALSAAAAHHHNPWTVSP
  FSKTPLHPSAAGGPGGPLSVYPGAGGGSGGGSGSSVASLTPTAAHSGSHLFGFPPTPPKE
  VSPDPSTTGAASPASSSAGGSAARGEDKDGVKYQVSLTESMKMESGSPLRPGLATMGTQP
  ATHHPIPTYPSYVPAAAHDYSSGLFHPGGFLGGPASSFTPKQRSKARSCSEGRECVNCGA
  TATPLWRRDGTGHYLCNACGLYHKMNGQNRPLIKPKRRLSAARRAGTCCANCQTTTTTLW
  RRNANGDPVCNACGLYYKLHNVNRPLTMKKEGIQTRNRKMSNKSKKSKKGAECFEELSKC
  MQEKSSPFSAAALAGHMAPVGHLPPFSHSGHILPTPTPIHPSSSLSFGHPHPSSMVTAMG
  

• Sequence length: 480

Pathways

Reactome:

RUNX1 regulates transcription of genes involved in differentiation of HSCs
Factors involved in megakaryocyte development and platelet production

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs1426175410	RCV003224332	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deafness-lymphedema-leukemia syndrome	Pathogenic; Likely pathogenic	rs146150325, rs1576748366, rs2107672568, rs2107672654, rs1338194519, rs2107667915, rs2107668010, rs1553770434, rs2107668072, rs2107668103, rs2107668602, rs148942346, rs2107668794, rs2107673633, rs2107668041, rs2107668121, rs2107668551, rs2107668560, rs2107668566, rs2107668582, rs2107668584, rs2107668588, rs2107668593, rs750890699, rs2107668601, rs2107668617, rs2107668634, rs376003468, rs2107668638, rs2107668641, rs2107668647, rs2107668655, rs867160952, rs2107668679, rs2107668687, rs2107668693, rs387906631, rs2107668727, rs2107668733, rs797045591, rs2107668739, rs2107668749, rs1576745256, rs1576745260, rs2107668760, rs2107668769, rs2107668773, rs2107668788, rs2107668805, rs2107668806, rs2107668812, rs2107668823, rs2107668827, rs2068635493, rs2107668832, rs869320770, rs2107668848, rs2107668860, rs2107668869, rs869320668, rs1576745322, rs1576746830, rs2107670301, rs2107670328, rs2107670331, rs2107670346, rs2107670366, rs2107670386, rs2107670401, rs2107670410, rs2107670416, rs2107670425, rs2107670463, rs2107670467, rs2107670484, rs2068685370, rs1559986946, rs2107671923, rs2107671965, rs2107672055, rs2107672102, rs2107672153, rs2107672186, rs2107672252, rs2107672306, rs2107672309, rs2107672336, rs2107672419, rs781744898, rs2107672703, rs2107672708, rs2107672730, rs2107672783, rs2107672788, rs2107672844, rs2107672847, rs2107672869, rs2107672881, rs2107672888, rs2107672963, rs2107672967, rs2107673392, rs2107673397, rs2107673501, rs2107673544, rs2107673689, rs2107673777, rs2107672019, rs2107671906, rs745439347, rs2472919464, rs2472919343, rs2472934198, rs2472934740, rs2472919181, rs2472932149, rs863224874, rs2472931721, rs387906629, rs2472920509, rs2472929677, rs2472920937, rs2472921118, rs2472929919, rs2472929964, rs2472919277, rs2472931166, rs2472930436, rs2472932040, rs869320734, rs869320735, rs768767517, rs1576749168, rs1576749301, rs387906632, rs387906633, rs387906634, rs1576745225, rs1553770510, rs1426175410, rs1553770655, rs1553770949, rs1559986109, rs1559985787, rs1576745270, rs1576746847, rs1576746862, rs1576744529, rs1313081073, rs1576745308, rs764747992, rs1576748638, rs1576748738, rs1576748378, rs1254938356, rs2068635607, rs1420609104	RCV001542132 RCV001389075 RCV001389077 RCV001381968 RCV001541963 RCV001541958 RCV001541957 RCV001541954 RCV001541951 RCV001541949 RCV001541948 RCV001541947 RCV001541967 RCV001541944 RCV001542173 RCV001542172 RCV001542170 RCV001542169 RCV001542168 RCV001542167 RCV001542166 RCV001542128 RCV001542165 RCV001542164 RCV001542163 RCV001542162 RCV001542129 RCV001542126 RCV001542125 RCV001542123 RCV001542122 RCV001542120 RCV001542121 RCV001542230 RCV001542119 RCV001542235 RCV001542233 RCV001542229 RCV001542227 RCV001542225 RCV001542224 RCV001542206 RCV001542207 RCV001542197 RCV001542201 RCV001542203 RCV001542200 RCV001542199 RCV001542148 RCV001542198 RCV001542159 RCV001542149 RCV001542196 RCV001542147 RCV001542195 RCV001542193 RCV001542194 RCV001542158 RCV001542192 RCV001542160 RCV001542156 RCV001542155 RCV001542152 RCV001542151 RCV001542150 RCV001542114 RCV001542115 RCV001542113 RCV001542111 RCV001542109 RCV001542108 RCV001542107 RCV001542106 RCV001542105 RCV001542102 RCV001542104 RCV001542103 RCV001542222 RCV001542221 RCV001542220 RCV001542219 RCV001542218 RCV001542215 RCV001542213 RCV001542212 RCV001542211 RCV001542210 RCV001542209 RCV001542208 RCV001542191 RCV001542186 RCV001542187 RCV001542185 RCV001542183 RCV001542182 RCV001542181 RCV001542180 RCV001542178 RCV001542179 RCV001542177 RCV001542176 RCV001542145 RCV001542144 RCV001542143 RCV001542141 RCV001542140 RCV001542139 RCV001542137 RCV001542138 RCV001542133 RCV001542134 RCV001542131 RCV001542130 RCV001542101 RCV001542100 RCV001941808 RCV001960693 RCV001888226 RCV002815853 RCV002856671 RCV001542205 RCV002838538 RCV002834496 RCV002857223 RCV002871180 RCV002871688 RCV000199975 RCV000197751 RCV003013144 RCV003043338 RCV003049305 RCV003801539 RCV003809129 RCV003801403 RCV003801405 RCV003808876 RCV003802058 RCV003815455 RCV003815489 RCV003804969 RCV001384284 RCV000706855 RCV001542117 RCV001542136 RCV001542189 RCV001542153 RCV000022569 RCV000022570 RCV000022571 RCV000022572 RCV000022573 RCV001542228 RCV000987321 RCV001542236 RCV000529588 RCV000528994 RCV001541945 RCV000649493 RCV000686956 RCV000686407 RCV000696729 RCV001541946 RCV000793168 RCV000800905 RCV001541952 RCV001062521 RCV001542157 RCV001542214 RCV001542190 RCV001386685 RCV001542184 RCV000987322 RCV000987323 RCV000987325 RCV001059063 RCV001214332 RCV001207183	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GATA2 deficiency with susceptibility to MDS/AML	Pathogenic; Likely pathogenic	rs146150325, rs1338194519, rs2107667915, rs2107668010, rs1553770434, rs2107668072, rs2107668103, rs2107668602, rs148942346, rs2107668794, rs2107673633, rs2107668041, rs2107668121, rs2107668551, rs2107668560, rs2107668566, rs2107668582, rs2107668584, rs2107668588, rs2107668593, rs750890699, rs2107668601, rs2107668617, rs2107668634, rs376003468, rs2107668638, rs2107668641, rs2107668647, rs2107668655, rs867160952, rs2107668679, rs2107668687, rs2107668693, rs387906631, rs2107668727, rs2107668733, rs797045591, rs2107668739, rs2107668749, rs1576745256, rs1576745260, rs2107668760, rs2107668769, rs2107668773, rs2107668788, rs2107668805, rs2107668806, rs2107668812, rs2107668823, rs2107668827, rs2068635493, rs2107668832, rs869320770, rs2107668848, rs2107668860, rs2107668869, rs869320668, rs1576745322, rs1576746830, rs2107670301, rs2107670328, rs2107670331, rs2107670346, rs2107670366, rs2107670386, rs2107670401, rs2107670410, rs2107670416, rs2107670425, rs2107670463, rs2107670467, rs2107670484, rs2068685370, rs1559986946, rs2107671923, rs2107671965, rs2107672055, rs2107672102, rs2107672153, rs2107672186, rs2107672252, rs2107672306, rs2107672309, rs2107672336, rs2107672419, rs2107672654, rs781744898, rs2107672703, rs2107672708, rs2107672730, rs2107672783, rs2107672788, rs2107672844, rs2107672847, rs2107672869, rs2107672881, rs2107672888, rs2107672963, rs2107672967, rs2107673392, rs2107673397, rs2107673501, rs2107673544, rs2107673689, rs2107673777, rs387906629, rs869320734, rs869320735, rs768767517, rs1576749168, rs1576749301, rs387906632, rs387906633, rs387906634, rs1576745225, rs1553770510, rs1426175410, rs1553770655, rs1559985787, rs1576745270, rs1576746847, rs1576744529, rs1576745308, rs764747992, rs1576748638, rs1576748738, rs1420609104	RCV001542132 RCV001541963 RCV001541958 RCV001541957 RCV001541954 RCV001541951 RCV001541949 RCV001541948 RCV001541947 RCV001541967 RCV001541944 RCV001542173 RCV001542172 RCV001542170 RCV001542169 RCV001542168 RCV001542167 RCV001542166 RCV001542128 RCV001542165 RCV001542164 RCV001542163 RCV001542162 RCV001542129 RCV001542126 RCV001542125 RCV001542123 RCV001542122 RCV001542120 RCV001542121 RCV001542230 RCV001542119 RCV001542235 RCV001542233 RCV001542229 RCV001542227 RCV001542225 RCV001542224 RCV001542206 RCV001542207 RCV001542197 RCV001542201 RCV001542203 RCV001542200 RCV001542199 RCV001542148 RCV001542198 RCV001542159 RCV001542149 RCV001542196 RCV001542147 RCV001542195 RCV001542193 RCV001542194 RCV001542158 RCV001542192 RCV001542160 RCV001542156 RCV001542155 RCV001542152 RCV001542151 RCV001542150 RCV001542114 RCV001542115 RCV001542113 RCV001542111 RCV001542109 RCV001542108 RCV001542107 RCV001542106 RCV001542105 RCV001542102 RCV001542104 RCV001542103 RCV001542222 RCV001542221 RCV001542220 RCV001542219 RCV001542218 RCV001542215 RCV001542213 RCV001542212 RCV001542211 RCV001542210 RCV001542209 RCV001542208 RCV001542191 RCV001542186 RCV001542187 RCV001542185 RCV001542183 RCV001542182 RCV001542181 RCV001542180 RCV001542178 RCV001542179 RCV001542177 RCV001542176 RCV001542145 RCV001542144 RCV001542143 RCV001542141 RCV001542140 RCV001542139 RCV001542137 RCV001542138 RCV001542133 RCV001542134 RCV001542131 RCV001542130 RCV001542101 RCV001542100 RCV001542205 RCV001542124 RCV001541956 RCV001542226 RCV001542117 RCV001542136 RCV001542189 RCV001542153 RCV001542142 RCV001542135 RCV001542112 RCV001542161 RCV001542238 RCV001542228 RCV001542118 RCV001542236 RCV001541953 RCV001542237 RCV001541945 RCV001542146 RCV001542216 RCV001541946 RCV001542110 RCV001541952 RCV001542157 RCV001542214 RCV001542190 RCV001542188 RCV001542184 RCV001542202 RCV001541955	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GATA2-related disorder	Likely pathogenic; Pathogenic	rs867160952, rs2472934740, rs387906632, rs1553770510	RCV004728765 RCV005239516 RCV003891441 RCV003892022	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukemia, acute myeloid, susceptibility to	Likely pathogenic; Pathogenic	rs797045591, rs387906629, rs387906631, rs1553770510, rs1426175410	RCV000194241 RCV000502442 RCV000022563 RCV000504503 RCV000500143	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lung cancer	Likely pathogenic; Pathogenic	rs869320668	RCV005888647	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monocytopenia with susceptibility to infections	Pathogenic; Likely pathogenic	rs1576748366, rs2107672568, rs2107672654, rs2107668602, rs376003468, rs1576745322, rs2107673544, rs2107672019, rs2107671906, rs745439347, rs2472919464, rs2472919343, rs2472934198, rs2472934740, rs781744898, rs2472919181, rs2472932149, rs2472931721, rs387906629, rs2472920509, rs2472921144, rs2472930152, rs2472929677, rs2472920937, rs2472921118, rs2472929919, rs2472929964, rs2472919277, rs2472931166, rs2472930436, rs2472932040, rs2472920836, rs2472935134, rs387906631, rs869320734, rs869320735, rs768767517, rs869320668, rs387906632, rs387906633, rs1553770978, rs1553770510, rs1553770434, rs1426175410, rs1553770655, rs1553770949, rs1559986109, rs1559985787, rs1559986946, rs1576745270, rs1576746847, rs1576746862, rs1576744529, rs1313081073, rs764747992, rs1254938356, rs2068635607, rs1420609104	RCV001389075 RCV001389077 RCV001381968 RCV004813178 RCV001859359 RCV002570650 RCV005225424 RCV001941808 RCV001960693 RCV001888226 RCV002815853 RCV002856671 RCV002838538 RCV002834496 RCV002857223 RCV002871180 RCV002871688 RCV000197751 RCV003013144 RCV003043338 RCV003049305 RCV003150598 RCV003150602 RCV003801539 RCV003809129 RCV003801403 RCV003801405 RCV003808876 RCV003802058 RCV003815455 RCV003815489 RCV003804969 RCV003990037 RCV004579662 RCV000022559 RCV000022561 RCV000022565 RCV000022566 RCV000022567 RCV000022568 RCV000812052 RCV005222698 RCV000601326 RCV001857100 RCV000529588 RCV000528994 RCV000032787 RCV000649493 RCV000686956 RCV000686407 RCV000696729 RCV000787953 RCV005213402 RCV000793168 RCV000800905 RCV002549629 RCV001062521 RCV005225174 RCV001386685 RCV001059063 RCV001214332 RCV001207183	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
multilineage dysplasia	Pathogenic	rs1559987322	RCV001281374	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myelodysplastic syndrome	Likely pathogenic; Pathogenic	rs2472920958, rs1338194519, rs387906631, rs1576745225, rs1426175410, rs1576749014	RCV003224958 RCV003486391 RCV000022562 RCV000022574 RCV003224332 RCV003444729	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Anemia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ARTERIOSCLEROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARTILAGE DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLONAL HEMATOPOIESIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GATA2 DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GATA2 DEFICIENCY SPECTRUM	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer-predisposing syndrome	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 21	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Increased risk to develop myelodysplastic syndrome, acute myeloid leukemia, or chronic myelomonocytic leukemia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHEDEMA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELODYSPLASTIC SYNDROMES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasm	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Predisposition to myelodysplastic syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY GRAFT DYSFUNCTION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Splenomegaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR REMODELING	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	27389056		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	30802360, 7579412		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	22147895, 24514424, 30190467, 31711889		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG	21892158, 21892162		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG	21892158, 21892162		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	BEFREE	25241285		★☆☆☆☆ Found in Text Mining only
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	25241285, 30190467		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	11964310		★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	17644741		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	24503571		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	11796836, 18228160		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	30802360, 7579412		★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	30190467		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	15538755		★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	Pubtator	34670919	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	31377428	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	28052733, 28787589		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Anemia	Anemia	Pubtator	31035956	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Anemia Aplastic	Aplastic anemia	Pubtator	11328281, 19772889	Inhibit	★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	17654061, 23028422, 25359990, 26325290	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Refractory	Refractory anemia	Pubtator	27013649	Associate	★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid syndrome	Pubtator	37901230	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	19684615		★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	11328281, 16960339, 19772889, 23028422, 25359990, 25397911, 27013649, 28566565		★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	LHGDN	17654061		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	24786211, 28569748		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	BEFREE	22246175		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	22246175	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	24782050	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	24786211		★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	26812071		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	34670919	Associate	★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	18250304, 18550858		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders Inherited	Blood coagulation disorder	Pubtator	32555368	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	25359990, 30578959, 34529785	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	25239263, 30538114, 30578959, 32088370, 34284273, 38422019	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow failure syndromes	Bone marrow failure syndrome	BEFREE	25311743, 25659730		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12351690, 21373886, 22021428, 28752392, 29872538		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37684436	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	15538755		★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of kidney and urinary tract	BEFREE	18233958		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19587786	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24498120	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27528231, 35534193	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	11228343		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	24807155		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34638133	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36961416	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	26297502	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28937943		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	32196466	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	CTD_human_DG	20707411		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cartilage Diseases	Cartilage Diseases	CTD_human_DG	20707411		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	34417833	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	36104591	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	30802360, 7579412		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	22786876		★☆☆☆☆ Found in Text Mining only
Chondromalacia	Chondromalacia	CTD_human_DG	20707411		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	30291337		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	30710465		★☆☆☆☆ Found in Text Mining only
Chronic neutropenia	Neutropenia	BEFREE	23223431		★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23423786, 25230694, 26287967, 27460045		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26287967, 28675510, 30658502, 33495406, 34262080, 35752837, 36991484	Associate	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	33859323	Associate	★☆☆☆☆ Found in Text Mining only
Congenital neutropenia	Congenital Neutropenia	BEFREE	25359990, 25397911, 25619630		★☆☆☆☆ Found in Text Mining only
Congenital neutropenia	Congenital Neutropenia	GENOMICS_ENGLAND_DG	29724903		★☆☆☆☆ Found in Text Mining only
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	BEFREE	29189513		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	25230694		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	16934006, 19864173, 19885677, 24786211		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	16934006, 19706030, 19864173, 19885677, 24782050, 24786211, 28760552		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	LHGDN	16934006		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	16934006, 19706030, 24782050	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	21808000, 23314186	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	16934006, 19864173, 19885677, 24786211		★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic neutropenia	Pubtator	37406166	Associate	★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	24345756, 28637621, 40664679	Associate	★☆☆☆☆ Found in Text Mining only
Deafness-lymphedema-leukemia syndrome	Deafness-Lymphedema-Leukemia Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Depressive Disorder	Major depressive disorder	Pubtator	34341332	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	38166541	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	32041280	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	15538755		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	16492768	Associate	★☆☆☆☆ Found in Text Mining only
Emberger Syndrome	Emberger Syndrome	GENOMICS_ENGLAND_DG	20803646, 21892158, 21892162, 27418648		★☆☆☆☆ Found in Text Mining only
Emberger Syndrome	Emberger Syndrome	CLINVAR_DG	21670465, 21892158, 21892162, 23365458, 23502222, 24077845, 24266605, 25676417, 25879889, 26492932, 26702063, 26812071, 27418648, 27894982		★☆☆☆☆ Found in Text Mining only
Emberger Syndrome	Emberger Syndrome	BEFREE	21892158, 24345756, 25619630, 26214525, 28234738, 28271814, 29189513		★☆☆☆☆ Found in Text Mining only
Emberger Syndrome	Emberger Syndrome	UNIPROT_DG	21892158		★☆☆☆☆ Found in Text Mining only
Emberger Syndrome	Emberger Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Emberger Syndrome	Emberger Syndrome	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	24603652		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	18250304, 19860791		★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa simplex Ogna type	Epidermolysis bullosa	Pubtator	28675510	Associate	★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	GATA2 Deficiency	CLINGEN_DG	12065417, 21670465, 21892158, 21892162, 22147895, 22996665, 23223431, 23502222, 25624456, 8078582		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GATA2 Deficiency	GATA2 Deficiency	BEFREE	21670465, 21765025, 22147895, 23223431, 23728141, 24782121, 25619630, 27545880, 27924436, 28440875, 28643018, 29343653, 29882021, 30578959, 30620726		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GATA2 Deficiency	GATA2 Deficiency	ORPHANET_DG	21670465, 21765025		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GATA2 Deficiency	GATA2 Deficiency	UNIPROT_DG	21670465		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GATA2 Deficiency	GATA2 Deficiency	CLINVAR_DG	21670465, 21892158, 21892162, 23365458, 23502222, 24077845, 24266605, 25676417, 25879889, 26492932, 26702063, 26812071, 27418648, 27894982, 29077208		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GATA2 Deficiency	GATA2 Deficiency	GENOMICS_ENGLAND_DG	21892162, 27418648, 29724903		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GATA2 Deficiency	Gata2 deficiency	Pubtator	22533337, 23223431, 23365458, 23502222, 24227816, 24345756, 24703711, 25359990, 26325290, 26693794, 28271814, 28440875, 28637621, 30538114, 31035956, 32555368, 32556286, 33417088, 33684095, 34284273, 34387894, 34529785, 34638133, 35603181, 36727400, 37595058, 38422019	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GATA2 Deficiency	Gata2 deficiency	Pubtator	26264606, 27894982, 36455197	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GATA2 Deficiency	GATA2 Deficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	25707769		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25707769		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	25707769		★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	34893945	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	24345756, 25359990, 28271814, 28440875, 28637621, 31035956, 32556286, 34233447, 34270823, 34576178	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	17654061, 26287967, 29146883, 29365323, 29724903, 34570179, 37406166	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	19304323, 26287967, 28752392, 30710465		★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	16960339, 26264606, 27235756, 28566565		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	25707769, 31785092		★☆☆☆☆ Found in Text Mining only
Hepatitis Autoimmune	Autoimmune hepatitis	Pubtator	26812071	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	21765025	Associate	★☆☆☆☆ Found in Text Mining only
Histiocytosis haematophagic	Histiocytosis Haematophagic	BEFREE	29375553		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	26473286	Associate	★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	BEFREE	18233958		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	31035956	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	11278891	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	29295841, 29724903, 35603181, 37325673, 40191186	Associate	★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	11328281, 23028422		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	22996659, 23728141, 24754962, 25619630, 28642594, 29947977		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inherited acute myeloid leukemia	Myeloid Leukemia	ORPHANET_DG	21892162, 25397911		★☆☆☆☆ Found in Text Mining only
Inherited acute myeloid leukemia	Myeloid Leukemia	Orphanet			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	36104591	Associate	★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	25397911, 30710465		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	CTD_human_DG	26457647		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28807932		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	32372565	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	11964310		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	19212333, 24703711, 25056917, 26850985, 28271814, 28566565, 28930689, 30710465, 31624376, 9808054		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	19587786, 21670465, 23344397, 24703711, 25056917, 28114350, 28271814, 29724903, 30538114, 30810468, 30850577, 33684095, 34075404, 36809258, 38422019, 7519472	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	21670465, 24077845, 26702063, 37427790, 38029365, 7519472	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	15138998, 19097174, 21816832, 22271902, 22649106, 22786876, 23223431, 24345756, 24782121, 25359990, 25805812, 26492932, 26721895, 27545880, 27894982, 28114350, 28271814, 28637621, 29227476, 29343653, 30190467, 30337300, 30578959, 31035956, 31434974, 32088370, 32208489, 32219447, 33831168, 33911178, 33980539, 34064268, 34075404, 34270823, 34284273, 36861732, 37794021, 37833543, 38029365, 8874206	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	11964310	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	21297973, 21892158, 21892162, 22147895, 22649106, 22786876, 23223431, 23521373, 23560626, 24227816, 24345756, 24514424, 24754962, 24782121, 25241285, 25805812, 25907033, 26850985, 27545880, 27899806, 28114350, 28234738, 28350881, 28752392, 28903318, 30190467, 30620726, 31035956, 31378673, 31386932, 31409822, 31434974, 31624376, 31711889, 31808891, 8035609		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CLINVAR_DG	21765025, 22147895		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG	21892158, 21892162		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GENOMICS_ENGLAND_DG	21892162, 27069254, 27418648		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	25397911, 30710465		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	23223431, 25879889		★☆☆☆☆ Found in Text Mining only
Li-Fraumeni Syndrome	Li-Fraumeni Syndrome	BEFREE	31203998		★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	Pubtator	19772889	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24498120		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	28637621	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	25879889	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	24807155		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26325290, 35538035	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	36961416	Associate	★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	24227816, 24345756, 28209719, 28271814, 28637621, 30538114, 32556286, 34387894, 36455197, 40664679	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	34040617	Associate	★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis, Hemophagocytic	Lymphohistiocytosis	BEFREE	31350183		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	23365458, 25879889, 27013649, 28093780		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12351690, 21373886, 22021428, 28752392, 29872538		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22541434, 24807155		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28937943		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31088566		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	19684615, 24423874, 24448395, 25670076, 25670080, 26751772, 27872477, 28486040, 30100187, 30833300, 31296150, 31562322		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29106391		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22271902, 22284968, 22492510, 23423786, 24514424, 25056917, 25624456, 25707267, 25707769, 27210295, 27924436, 29872538, 30190467, 30802360, 31203998, 31675473, 31785092		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	29452225		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29156497		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	29156497	Associate	★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	24448395		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	22147895		★☆☆☆☆ Found in Text Mining only
Milroy Disease	Milroy Disease	BEFREE	21892158, 22147895, 25619630, 28271814		★☆☆☆☆ Found in Text Mining only
Milroy Disease	Milroy Disease	CTD_human_DG	21892158		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	29680795	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	30245028	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	ORPHANET_DG	21892162		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	22430350, 22996659, 24077845, 25397911, 28271814, 31033783, 31203998		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	LHGDN	12145700		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	CTD_human_DG	21892158, 21892162, 27992414		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	GENOMICS_ENGLAND_DG	21892158, 21892162, 27069254, 27418648		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	21892162, 22147895, 22271902, 22430350, 22533337, 22996659, 23223431, 24077845, 24227816, 24345756, 24514424, 24782121, 25056917, 25397911, 25707267, 26702063, 26989184, 27013649, 27210295, 27545880, 27913534, 28234738, 28271814, 28566565, 28643018, 28905389, 29189513, 29882021, 30710465, 30714451, 30933029, 31033783, 31035956, 31203998, 31322613, 31434974, 31808891		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	ORPHANET_DG	21892162		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	UNIPROT_DG	21892162		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myelodysplastic syndrome	Myelodysplastic Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	21816832, 22271902, 22533337, 23223431, 24077845, 24227816, 24703711, 24782121, 25056917, 25239263, 25359990, 26264606, 26702063, 27013649, 27418648, 27545880, 27894982, 27992414, 28209719, 28440875, 28637621, 29680795, 29882021, 30538114, 30578959, 31035956, 31322613, 31434974, 31808891, 32088370, 32555368, 32770553, 33684095, 34233447, 34244664, 34270823, 34284273, 34529785, 35983050, 37595058, 38029365, 38191334, 40358701, 40664679, 40725152	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myeloid Leukemia	Myeloid Leukemia	BEFREE	22192845, 24077845, 25619630		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	15806158, 18250304, 18550858, 24634115, 7579412		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	30710465		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	30935420	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21373886, 22541434, 23423786, 23892628, 24498120, 24703906, 25230694, 25619630, 27628325, 27924436, 28486040, 28490464, 28637621, 28643018, 28937943, 30100187, 30576868, 30710465, 31296150, 31309983, 31675473		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	19212333, 31142324		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	21670465, 23223431, 24345756, 26812071, 28271814, 29343653, 31035956, 32556286, 33417088, 34089740, 36455197	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	19707195		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	19707195	Inhibit	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	36416237	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	23223431		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	23223431, 38029365	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neutropenia Severe Congenital Autosomal Recessive 3	Severe congenital neutropenia	Pubtator	25359990	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22541434, 24521262, 24807155, 27460045, 29760808		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	25630869	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	26271004		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28937943		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35488350	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31088566		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35534193	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	21508125, 30047422, 31035956, 31675473		★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	Pubtator	23344397, 28271814	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Panniculitis	Panniculitis	Pubtator	28440875	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	19864173		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	25630869	Inhibit	★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	22533337	Associate	★☆☆☆☆ Found in Text Mining only
Porphyria Cutanea Tarda	Porphyria cutanea tarda	Pubtator	30538114	Associate	★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	31675473		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	19684615, 24423874, 24448395, 25670076, 25670080, 26751772, 27872477, 28486040, 30100187, 30833300, 31296150, 31562322		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24423874, 24448395, 26751772, 28486040, 30100187, 30833300, 31296150, 31501863, 31562322, 34636746, 36251994, 37550764	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Alveolar Proteinosis	Pulmonary alveolar proteinosis	Pubtator	26264606, 36455197	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	34321876	Associate	★☆☆☆☆ Found in Text Mining only
Refractory anaemia with excess blasts	Myelodysplastic syndrome	BEFREE	27013649, 31035956		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	30916783		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	37925496	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	32556286	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30916783		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	25619630, 25879889		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	35983050	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	29156497	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	29156497		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29106391		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24338397, 35289315	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	23344397	Associate	★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	28943250		★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	31035956, 32088370, 34233447	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	23365458, 29906059		★☆☆☆☆ Found in Text Mining only
Truncus Arteriosus, Persistent	Persistent truncus arteriosus	BEFREE	22284968		★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital Abnormalities	BEFREE	18233958		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	40180167	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	27780851		★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	28637621	Associate	★☆☆☆☆ Found in Text Mining only
Young onset Parkinson disease	Parkinson disease	BEFREE	27765362		★☆☆☆☆ Found in Text Mining only