GATA2 (GATA binding protein 2)

Gene

• Entrez ID: 2624
• Gene name: GATA binding protein 2
• Gene symbol: GATA2
• Synonyms: 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:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	27780851
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	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:0003682	Function	Chromatin binding	IDA	19242469
GO:0003700	Function	DNA-binding transcription factor activity	IDA	15016828, 20206639
GO:0005515	Function	Protein binding	IPI	7568177, 10938104, 16153155, 18250304, 20705609, 21988832, 23887938, 25416956, 31515488, 32296183
GO:0005634	Component	Nucleus	IDA	27780851
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005737	Component	Cytoplasm	IDA	27780851
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006909	Process	Phagocytosis	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IEA
GO:0007596	Process	Blood coagulation	TAS
GO:0008134	Function	Transcription factor binding	IPI	15016828
GO:0008270	Function	Zinc ion binding	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:0021954	Process	Central nervous system neuron development	IEA
GO:0021983	Process	Pituitary gland development	IEA
GO:0033993	Process	Response to lipid	IEA
GO:0035019	Process	Somatic stem cell population maintenance	IEA
GO:0035065	Process	Regulation of histone acetylation	IEA
GO:0035854	Process	Eosinophil fate commitment	IDA	12045236
GO:0042472	Process	Inner ear morphogenesis	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:0045165	Process	Cell fate commitment	IBA	21873635
GO:0045599	Process	Negative regulation of fat cell differentiation	IMP	20705609
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	21873635
GO:0045766	Process	Positive regulation of angiogenesis	IDA	19242469
GO:0045766	Process	Positive regulation of angiogenesis	IMP	21788589
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	IGI	19323994
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	19242469
GO:0048469	Process	Cell maturation	IEA
GO:0048873	Process	Homeostasis of number of cells within a tissue	IEA
GO:0050766	Process	Positive regulation of phagocytosis	ISS
GO:0060100	Process	Positive regulation of phagocytosis, engulfment	IEA
GO:0060216	Process	Definitive hemopoiesis	IEA
GO:0060872	Process	Semicircular canal development	IEA
GO:0061042	Process	Vascular wound healing	IMP	22499991
GO:0070345	Process	Negative regulation of fat cell proliferation	IMP	20705609
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:1902036	Process	Regulation of hematopoietic stem cell differentiation	TAS
GO:1902895	Process	Positive regulation of pri-miRNA transcription by RNA polymerase II	IBA	21873635
GO:1902895	Process	Positive regulation of pri-miRNA transcription by RNA polymerase II	IDA	27780851
GO:1902895	Process	Positive regulation of pri-miRNA transcription by RNA polymerase II	IGI	27780851
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: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

• 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

Causal
Disease name	Disease term	dbSNP ID	References
Congenital neutropenia	Congenital neutropenia	rs118203968, rs118203969, rs118203970, rs118203971, rs267606834, rs28936381, rs137854447, rs137854448, rs137854450, rs28931611, rs137854451, rs200478425, rs587777730, rs606231474, rs606231475, rs606231473, rs775224457, rs769441127, rs148559256, rs797044567, rs796065343, rs797045009, rs878855315, rs1555710005, rs879253750, rs879253882, rs1555354200, rs1555354198, rs1555354750, rs890101650, rs759302795, rs57246956, rs138156467, rs1194477276, rs1570588220, rs757401069, rs745582203, rs1191239079, rs1597905369, rs1599294750, rs1594996301, rs1595004126, rs1595004676, rs756667927, rs34019455	29724903
Deafness-lymphedema-leukemia syndrome	Deafness-lymphedema-leukemia syndrome	rs1576749168, rs1576749301, rs387906632, rs387906633, rs387906634, rs863224874, rs1553770510, rs1576745256, rs1576745260, rs1576748378
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Leukemia	leukemia, Leukemia, Myelocytic, Acute, Acute leukemia, Acute Myeloid Leukemia (AML-M2)	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601	22147895, 27418648, 21765025, 21892158, 27069254, 21892162, 21892158, 21892162
Migraine	Migraine Disorders	rs794727411
Myelodysplasia	Myelodysplasia	rs141601766, rs1261178797	21892162
Myelodysplastic syndrome	MYELODYSPLASTIC SYNDROME	rs193303018, rs387906631, rs1576745225, rs373145711, rs752746786, rs377023736, rs373221034, rs1576749014, rs1600586587	21892162, 27069254, 27992414, 27418648, 21892158
Myelomonocytic leukemia	Juvenile Myelomonocytic Leukemia	rs137854555, rs267606602, rs267606604, rs137854562, rs267606607, rs121918546, rs112445441, rs121913529, rs121913530, rs121918465, rs267606708, rs267606706, rs121434596, rs121913237, rs397514641, rs199474747, rs199474728, rs199474781, rs587781807, rs727504426, rs786203950, rs786202782, rs1321848637, rs786202457, rs786204157, rs267606599, rs1555535032, rs864622161, rs878853865, rs199474737, rs199474742, rs1057518904, rs771820789, rs1057518974, rs1057518807, rs1057521098, rs1057521848, rs1060500273, rs376576925, rs1060500356, rs1060500363, rs1060500245, rs1060500387, rs1064794278, rs1085307819, rs753245823, rs1135402868, rs1135402894, rs1555610893, rs1555610881, rs771115661, rs1555614453, rs753529924, rs1555618572, rs1555534697, rs1555610905, rs1555613543, rs1131691105, rs1555534893, rs1060500376, rs1060500355, rs1567845945, rs1567817974, rs1567818033, rs1597713360, rs1555614462, rs137854553, rs1597831990, rs1597858459, rs1597858594, rs876657932, rs1597681200, rs1597866846, rs1597710409, rs2066138676, rs2066507116, rs2066874267, rs2066874810, rs1555614354, rs786202177, rs2069448326, rs2069793099, rs863224445	26457647
Myeloproliferative disorder	Myeloproliferative disease	rs267606708, rs77375493
Neutropenia	Neutropenia	rs879253882
Pancytopenia	Pancytopenia	rs869312883, rs770551610, rs1131690788, rs530073586, rs374333820
Thrombophilia	Thrombophilia	rs118203912, rs118203911, rs121918141, rs121918142, rs121918143, rs121918144, rs121918145, rs121918146, rs121918147, rs121918148, rs121918149, rs121918151, rs121918152, rs121918153, rs121918154, rs1558715857, rs121918155, rs121918157, rs121918158, rs2104934553, rs121918159, rs121918160, rs121918477, rs121918473, rs121918474, rs267606981, rs2107137679, rs121918475, rs387906674, rs387907201, rs369504169, rs142742242, rs373983977, rs368074804, rs574132670, rs757583846, rs863224838, rs121918476, rs1333329860, rs1553424043, rs1553808038, rs5017717, rs374476971, rs1553809314, rs1553423955, rs767112991, rs1558718572, rs571278160, rs766261022, rs1321566264, rs1559926604, rs1241365457, rs759677822, rs1448630830, rs1305782685, rs1571577365, rs1247269491, rs777486993, rs201907715, rs769277939, rs199469503, rs1575904540, rs199469494, rs199469471, rs1189377845, rs1576182848, rs1688218776, rs1456533664, rs1709033502, rs1708668246, rs1708665916

Unknown
Disease name	Disease term	dbSNP ID	References
Cardiovascular abnormalities	Cardiovascular Abnormalities		20707411
Cartilage diseases	Cartilage Diseases		20707411
Chondromalacia	Chondromalacia		20707411
Emberger syndrome	Emberger Syndrome		27894982, 21892158, 27418648, 20803646, 25879889, 26492932, 21670465, 26702063, 23502222, 25676417, 23365458, 21892162, 24266605, 24077845, 26812071
Immunologic deficiency syndromes	Immunologic Deficiency Syndromes
Lymphopenia	Lymphopenia
Milroy disease	Milroy Disease		21892158
Gata2 deficiency	GATA2 Deficiency		29724903, 21892162, 8078582, 23365458, 23223431, 21670465, 25676417, 25879889, 25624456, 27418648, 23502222, 21892158, 29077208, 24077845, 27894982, 24266605, 26812071, 21765025, 22996665, 26492932, 26702063, 22147895, 12065417
Myeloid leukemia	Myeloid Leukemia, Acute Myeloid Leukemia, M1, Inherited acute myeloid leukemia		21892158, 21892162, 25397911, 21892162
Otitis media	Chronic otitis media	rs601338, rs1047781, rs1800028
Respiratory failure	Respiratory Failure
Speech disorders	Speech Disorders