Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2623
Gene name	GATA binding protein 1
Gene symbol	GATA1
Synonyms (NCBI Gene)	CNSHA9ERYF1GATA-1GF-1GF1HAEADANF-E1NFE1XLANPXLTDAXLTT
Chromosome	X
Chromosome location	Xp11.23
Summary	This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associat

Show/Hide all (21)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894808	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104894809	G>A	Pathogenic	Coding sequence variant, missense variant
rs104894815	G>A	Pathogenic	Coding sequence variant, missense variant
rs104894816	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137852312	GG>TC	Pathogenic	Coding sequence variant, missense variant
rs387907207	C>T	Pathogenic	Missense variant, coding sequence variant
rs398124627	->TACT	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs398124628	->ACAGCCACCGCTGCAGCTGC	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs587776451	T>C	Pathogenic	Missense variant, intron variant, initiator codon variant
rs587776452	G>C	Pathogenic	Missense variant, intron variant, coding sequence variant
rs587776453	G>-	Pathogenic	Splice donor variant, intron variant, coding sequence variant
rs587776454	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs587776455	G>T	Pathogenic	Missense variant, coding sequence variant
rs587776456	T>C	Likely-pathogenic, pathogenic	Stop lost, terminator codon variant
rs1557020001	G>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1557020021	C>G	Pathogenic	Intron variant, stop gained, coding sequence variant
rs1569499310	->G	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1569499366	G>C	Likely-pathogenic	Splice donor variant, intron variant
rs1602218917	->AGTT	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1602219139	->GCAGCTGCGGCACTGGCCTACT	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1602220307	C>T	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all (14)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017923	hsa-miR-335-5p	Microarray	18185580
MIRT733501	hsa-miR-210-3p	Luciferase reporter assayqRT-PCRWestern blotting	34109429
MIRT733501	hsa-miR-210-3p	Luciferase reporter assayqRT-PCRWestern blotting	34109429
MIRT1012473	hsa-miR-1254	CLIP-seq
MIRT1012474	hsa-miR-3116	CLIP-seq
MIRT1012475	hsa-miR-323-5p	CLIP-seq
MIRT1012476	hsa-miR-342-5p	CLIP-seq
MIRT1012477	hsa-miR-4664-5p	CLIP-seq
MIRT1012478	hsa-miR-520d-5p	CLIP-seq
MIRT1012479	hsa-miR-524-5p	CLIP-seq
MIRT1012480	hsa-miR-550a	CLIP-seq
MIRT1012481	hsa-miR-661	CLIP-seq
MIRT1012482	hsa-miR-876-3p	CLIP-seq
MIRT1012483	hsa-miR-9	CLIP-seq

Show/Hide all (13)

Transcription factor	Regulation	Reference
BCL11A	Activation	23071749
BCL11A	Unknown	20542454
CBFB	Unknown	8683991
CEBPE	Repression	12202480
FLI1	Activation	12724402
GATA1	Activation	16492768
GATA1	Unknown	17628529;20542454
GATA2	Activation	23071749
GATA2	Unknown	19279013
MYC	Repression	18838534
POU2F1	Unknown	7499351
SPI1	Activation	20304827
SPI1	Unknown	11001896

101

Show/Hide all (101)

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	IDA	22235304
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IMP	10700180
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	2467208
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	IDA	15920471, 24245781
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IMP	20133935
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	ISA
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IEA
GO:0001221	Function	Transcription coregulator binding	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	IDA	15920471
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0002039	Function	P53 binding	IEA
GO:0003677	Function	DNA binding	IDA	8628290, 11418466, 12609092, 22235304
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	2467208
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	11418466, 11675338, 17132730, 17167422, 19513100, 24245781, 24722188, 25416956, 25910212, 26019275, 27107012, 28514442, 32296183, 32814053, 32911434, 35512704
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	2467208, 10700180, 17167422
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	IDA	15920471
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:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IEA
GO:0007267	Process	Cell-cell signaling	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0008584	Process	Male gonad development	IMP	10700180
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0010559	Process	Regulation of glycoprotein biosynthetic process	IEA
GO:0010559	Process	Regulation of glycoprotein biosynthetic process	IMP	15701726
GO:0010724	Process	Regulation of definitive erythrocyte differentiation	IDA	12200364, 15920471
GO:0010724	Process	Regulation of definitive erythrocyte differentiation	IEA
GO:0010725	Process	Regulation of primitive erythrocyte differentiation	IEA
GO:0017053	Component	Transcription repressor complex	IDA	15920471
GO:0030099	Process	Myeloid cell differentiation	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030218	Process	Erythrocyte differentiation	IEA
GO:0030218	Process	Erythrocyte differentiation	IEP	7678994
GO:0030219	Process	Megakaryocyte differentiation	IEA
GO:0030219	Process	Megakaryocyte differentiation	IMP	10700180
GO:0030220	Process	Platelet formation	IEA
GO:0030220	Process	Platelet formation	IMP	10700180, 11675338, 12483298
GO:0030221	Process	Basophil differentiation	IEP	7678994
GO:0030222	Process	Eosinophil differentiation	IEP	8507862
GO:0030282	Process	Bone mineralization	IEA
GO:0030502	Process	Negative regulation of bone mineralization	IEA
GO:0031100	Process	Animal organ regeneration	IEA
GO:0031490	Function	Chromatin DNA binding	IDA	22235304
GO:0032993	Component	Protein-DNA complex	IDA	12609092
GO:0033028	Process	Myeloid cell apoptotic process	IEA
GO:0033033	Process	Negative regulation of myeloid cell apoptotic process	IEA
GO:0033687	Process	Osteoblast proliferation	IEA
GO:0033690	Process	Positive regulation of osteoblast proliferation	IEA
GO:0035162	Process	Embryonic hemopoiesis	IEA
GO:0035854	Process	Eosinophil fate commitment	IDA	12045236
GO:0043066	Process	Negative regulation of apoptotic process	IMP	17167422
GO:0043306	Process	Positive regulation of mast cell degranulation	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0043565	Function	Sequence-specific DNA binding	IMP	12200364
GO:0045165	Process	Cell fate commitment	IBA
GO:0045648	Process	Positive regulation of erythrocyte differentiation	IMP	17167422
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	24245781
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	2467208, 12200364, 15920471
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	20133935
GO:0046872	Function	Metal ion binding	IEA
GO:0048468	Process	Cell development	IEA
GO:0048731	Process	System development	IEA
GO:0048821	Process	Erythrocyte development	IMP	10700180
GO:0048873	Process	Homeostasis of number of cells within a tissue	IEA
GO:0060009	Process	Sertoli cell development	IEA
GO:0060319	Process	Primitive erythrocyte differentiation	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	11675338, 15920471
GO:0070527	Process	Platelet aggregation	IEA
GO:0070527	Process	Platelet aggregation	IMP	15701726
GO:0070742	Function	C2H2 zinc finger domain binding	IPI	12483298
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071320	Process	Cellular response to cAMP	IEA
GO:0071372	Process	Cellular response to follicle-stimulating hormone stimulus	IEA
GO:0097028	Process	Dendritic cell differentiation	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA
GO:2001240	Process	Negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IMP	17167422

MIM	HGNC	e!Ensembl
305371	4170	ENSG00000102145

P15976

Protein name

Erythroid transcription factor (Eryf1) (GATA-binding factor 1) (GATA-1) (GF-1) (NF-E1 DNA-binding protein)

Protein function

Transcriptional activator or repressor which serves as a general switch factor for erythroid development (PubMed:35030251). It binds to DNA sites with the consensus sequence 5'-[AT]GATA[AG]-3' within regulatory regions of globin genes and of oth

PDB

6G0Q

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00320	GATA	204 → 238	GATA zinc finger	Domain
PF00320	GATA	258 → 292	GATA zinc finger	Domain

Tissue specificity

TISSUE SPECIFICITY: Erythrocytes. {ECO:0000269|PubMed:8524811}.

Sequence

MEFPGLGSLGTSEPLPQFVDPALVSSTPESGVFFPSGPEGLDAAASSTAPSTATAAAAAL
AYYRDAEAYRHSPVFQVYPLLNCMEGIPGGSPYAGWAYGKTGLYPASTVCPTREDSPPQA
VEDLDGKGSTSFLETLKTERLSPDLLTLGPALPSSLPVPNSAYGGPDFSSTFFSPTGSPL
NSAAYSSPKLRGTLPLPPCEARECVNCGATATPLWRRDRTGHYLCNACGLYHKMNGQNRP
LIRPKKRLIVSKRAGTQCTNCQTTTTTLWRRNASGDPVCNACGLYYKLHQVNRPLTMRKD
GIQTRNRKASGKGKKKRGSSLGGTGAAEGPAGGFMVVAGGSGSGNCGEVASGLTLGPPGT
AHLYQGLGPVVLSGPVSHLMPFPGPLLGSPTGSFPTGPMPPTTSTTVVAPLSS

Sequence length

413

Interactions

View interactions

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

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)

Show/Hide Causal Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acute megakaryoblastic leukemia	Pathogenic	rs398124628	RCV000011174	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acute megakaryoblastic leukemia in down syndrome	Pathogenic	rs1557020021, rs2062673859, rs2062673949, rs2062674122, rs2062674253, rs2062674480	RCV001293757 RCV001293759 RCV001293762 RCV001293763 RCV001293755 RCV001293766 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Anemia	Likely pathogenic	rs1602220307	RCV001003924	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Beta-thalassemia-X-linked thrombocytopenia syndrome	Pathogenic; Likely pathogenic	rs104894809, rs387907207, rs2062673416	RCV000011173 RCV000024620 RCV002504289	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutaneous porphyria	Likely pathogenic	rs387907207	RCV001725115	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diamond-Blackfan anemia	Pathogenic; Likely pathogenic	rs2147305526, rs2147305615, rs1273620943, rs2147305695, rs2147306077, rs2147305721, rs2147305736, rs587776451, rs587776452, rs2519343917, rs2519343812, rs2519343795, rs2519343724, rs2519343771, rs104894809 View all (19 more)	RCV001380283 RCV001380655 RCV001380656 RCV001382576 RCV001380159 View all (31 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Down syndrome	Pathogenic; Likely pathogenic	rs2147306077, rs2062673416	RCV002246360 RCV002504289	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis	Pathogenic; Likely pathogenic	rs2147305526, rs2147305615, rs1273620943, rs2147305695, rs2147306077, rs2147305721, rs2147305736, rs587776451, rs587776452, rs2519343917, rs2519343812, rs2519343795, rs2519343724, rs2519343771, rs2519344800 View all (20 more)	RCV001380283 RCV001380655 RCV001380656 RCV001382576 RCV001380159 View all (32 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GATA1-related disorder	Pathogenic; Likely pathogenic	rs2519343795, rs2519343851, rs2519343812, rs387907207, rs2062673416	RCV004754915 RCV003427889 RCV003392979 RCV003398569 RCV003398968	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEUKEMIA, MEGAKARYOBLASTIC, OF DOWN SYNDROME, SOMATIC	Pathogenic	rs398124627	RCV000011171	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia	Likely pathogenic; Pathogenic	rs587776456, rs104894816, rs1602220307	RCV001003925 RCV000852181 RCV001003924	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia, X-linked, with dyserythropoietic anemia	Pathogenic	rs104894815, rs104894808	RCV000011168 RCV000011172	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia	Pathogenic; Likely pathogenic	rs587776451, rs587776452, rs587776456, rs2519345787, rs104894815, rs104894816, rs137852312, rs104894808, rs104894809, rs2519346409, rs587776453, rs387907207, rs2062673416	RCV000144252 RCV000144253 RCV000144261 RCV002281011 RCV000144255 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thrombocytopenia, X-linked, without dyserythropoietic anemia	Likely pathogenic; Pathogenic	rs104894816, rs137852312	RCV000011169 RCV000011170	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Transient myeloproliferative syndrome	Pathogenic	rs2062673272, rs2062673530, rs2062674043, rs2062674491	RCV001293754 RCV001293751 RCV001293753 RCV001293752	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia	Pathogenic; Likely pathogenic	rs587776451, rs587776452, rs104894809, rs2519343818, rs587776453, rs387907207, rs2062673416, rs1569499366	RCV000754842 RCV000011175 RCV003137511 RCV003448721 RCV000024619 RCV003989300 RCV002504289 RCV004813159 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 9	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, DIAMOND-BLACKFAN	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETA THALASSEMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ERYTHROPOIETIC PORPHYRIA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrothrombocytopenia	Conflicting classifications of pathogenicity; Uncertain significance	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
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PORPHYRIA, ERYTHROPOIETIC, CONGENITAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOCYTOPENIA WITH CONGENITAL DYSERYTHROPOIETIC ANEMIA	—	GenCC, Orphanet GenCC, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSIENT MYELOPROLIFERATIVE DISORDER OF DOWN SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED CONGENITAL DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED DYSERYTHROPOIETIC ANEMIA WITH ABNORMAL PLATELETS AND NEUTROPENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (255)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Aase Smith syndrome 2	Aase-Smith syndrome	ORPHANET_DG	22706301, 24952648		★★★★★ ★☆☆☆☆ Found in Text Mining only
Abetalipoproteinemia	Abetalipoproteinemia	BEFREE	28418072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Abetalipoproteinemia	Abetalipoproteinemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Basophilic Leukemia	Basophilic Leukemia	BEFREE	21474671, 30599775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Basophilic Leukemia	Basophilic Leukemia	ORPHANET_DG	21474671		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute basophilic leukemia	Basophilic Leukemia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	19682090, 20495378, 2259631, 27010793, 28340113, 7828582, 8207977, 8443382, 8617207, 9808054		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	10360378, 12560215, 14636651, 16631466, 28340113, 9808054		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	10360378, 16631466, 28340113		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute megakaryoblastic leukemia in Down syndrome	Megakaryoblastic Leukemia In Down Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	12172547, 12560215, 12586620, 12649131, 12747884, 12816863, 14636651, 14656875, 14744791, 15136229, 15180862, 15390312, 15659348, 15686466, 15895080 View all (51 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	LHGDN	12172547, 12816863, 14636651, 14656875, 14744791, 16249385, 17576817		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	26637766, 8683991		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	8035609		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28566697, 29100282, 29511303		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	30599775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	22757654	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	10360378		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	10700180, 11418466, 11809723, 14656885, 16960339, 18930124, 19208846, 19365556, 22279059, 28052733, 28566565, 30530752		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anemia	Anemia	GENOMICS_ENGLAND_DG	11809723		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anemia	Anemia	Pubtator	11809723, 18930124, 20922527, 35030251, 36231035, 36291092, 38385251	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anemia	Anemia	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anemia Aplastic	Aplastic anemia	Pubtator	17654061	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Dyserythropoietic Congenital	Congenital dyserythropoietic anemia	Pubtator	11418466, 11809723, 17538848, 26713410, 30914438, 36291092	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	10700180, 19687298	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic Congenital	Hemolytic anemia	Pubtator	35030251	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia of inadequate production	Anemia	BEFREE	11809723, 16103636, 26713410		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia of inadequate production	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	15145217	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Diamond-Blackfan	Anemia	CLINVAR_DG	11566888, 15920471, 16095949, 16783379, 22706301, 23704091, 24255919, 24453067, 8628290		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Diamond-Blackfan	Anemia	GENOMICS_ENGLAND_DG	11809723, 24453067, 28297620, 30228860		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Diamond-Blackfan	Anemia	BEFREE	22706301, 24453067, 24735966, 24942156, 24952648, 25035146, 25270909, 29400094, 30530752, 30700418, 31409672		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Diamond-Blackfan	Anemia	ORPHANET_DG	22706301, 24952648		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Hemolytic	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Macrocytic	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES	Anemia	GENOMICS_ENGLAND_DG	10700180, 11809723, 22706301, 24453067, 30228860		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES	Anemia	ORPHANET_DG	16783379		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES	Anemia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES	Anemia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	31093285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	17654061		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	29993142	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	16794258, 22246175		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	22246175	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	31059917	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atlantoaxial instability	Atlantoaxial abnormality	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	34462261	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Avellino corneal dystrophy	Avellino Corneal Dystrophy	BEFREE	23940284		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	21967505		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bernard Soulier Syndrome	Bernard-soulier syndrome	Pubtator	17538848, 18041654	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Beta ketothiolase deficiency	Beta-ketothiolase deficiency	Pubtator	24196768	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	11809723		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
beta Thalassemia	Beta thalassemia	Pubtator	11809723, 12200364, 1309671, 17654503, 33054049	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Beta thalassemia intermedia	beta Thalassemia	BEFREE	17654503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Beta-thalassemia-X-linked thrombocytopenia syndrome	Beta-Thalassemia-Thrombocytopenia Syndrome, X-Linked	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
beta^+^ Thalassemia	beta Thalassemia	BEFREE	11809723		★★★★★ ★☆☆☆☆ Found in Text Mining only
beta^0^ Thalassemia	beta Thalassemia	BEFREE	8529108		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blackfan-Diamond anemia	Blackfan-Diamond Anemia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	LHGDN	17408401		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	8207977		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	15701726		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet-type bleeding disorder	BEFREE	18041654, 23704091		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	20922527, 36291092	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20101202, 22020876, 24434785, 26848522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21689417, 24434785	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brody myopathy	Brody myopathy	Pubtator	40323132	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19587786	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	20101202		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	36102738	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	26297502	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	10360378, 16428507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	24021668		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	33579226	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	15654280, 20729467, 25248574, 29400094, 29611379, 31749302		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	35436926	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	30914438	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25230694, 31069596		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30658502	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	31069596		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	18372039		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	31456644		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital dyserythropoietic anemia	Congenital dyserythropoietic anemia	LHGDN	17713552		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital dyserythropoietic anemia	Congenital dyserythropoietic anemia	BEFREE	21055716, 23940284, 29846281		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital dyserythropoietic anemia type IV	Congenital dyserythropoietic anemia	BEFREE	23522491		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital erythropoietic porphyria	Congenital Erythropoietic Porphyria	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital myasthenic syndrome ib	Congenital myasthenic syndrome	Pubtator	27821551	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital thrombocytopenia	Congenital thrombocytopenia	BEFREE	18000164		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital thrombocytopenia	Congenital thrombocytopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	25230694		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniofacial Abnormalities	Craniofacial abnormalities	Pubtator	35436926	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic neutropenia	Pubtator	11809723	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deficiency of Uroporphyrinogen III Synthase	Deficiency Of Uroporphyrinogen III Synthase	ORPHANET_DG	17148589		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29993142		★★★★★ ★☆☆☆☆ Found in Text Mining only
Delta-Beta Thalassemia	Delta-Beta Thalassemia	BEFREE	1419824		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dental Caries	Dental caries	Pubtator	24192446	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorders of Porphyrin Metabolism	Porphyria	BEFREE	17148589		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	12172547, 12560215, 12586620, 12649131, 12747884, 12816863, 14512321, 14636651, 14656875, 14744791, 15390279, 15390307, 15390312, 15630411, 15654280 View all (88 more)		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Down Syndrome	Down Syndrome	LHGDN	12172547, 12586620, 12816863, 14512321, 14636651, 14656875, 16249385, 16840187, 17576817, 18059480, 18689547		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Down Syndrome	Down syndrome	Pubtator	12560215, 12586620, 12649131, 12816863, 14656875, 15686466, 16249385, 17157155, 17576817, 18689547, 19119459, 19633202, 20064153, 20729467, 22110660 View all (25 more)	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Down Syndrome	Down syndrome	Pubtator	16492768, 27134169	Stimulate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Down Syndrome	Down syndrome	Pubtator	29481579	Inhibit	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Down Syndrome	Down Syndrome	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Down Syndrome, Partial Trisomy 21	Down Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyserythropoietic Anemia with Thrombocytopenia	Dyserythropoietic Anemia With Thrombocytopenia	BEFREE	11418466, 11809723, 16103636		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyserythropoietic Anemia with Thrombocytopenia	Dyserythropoietic Anemia With Thrombocytopenia	CLINVAR_DG	11566888, 15920471, 16095949, 23704091, 24255919, 8628290		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyserythropoietic Anemia with Thrombocytopenia	Dyserythropoietic Anemia With Thrombocytopenia	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectropion	Ectropion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Elliptocytosis, Hereditary	Elliptocytosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	24336126		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gestational Trophoblastic Disease	Gestational trophoblastic disease	Pubtator	39632297	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gout	Gout	Pubtator	20922527	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gray Platelet Syndrome	Gray Platelet Syndrome	BEFREE	17209061		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gray Platelet Syndrome	Graves ophthalmopathy	Pubtator	17209061, 17538848	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	19924028		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	29954930	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	17654061, 26713410, 27134169, 31049966, 31413099	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	25175265, 28119852		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	15659348, 16158817, 16631466, 28119852, 28179280, 28340113, 28566565, 29400094, 31769197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemoglobin F Disease	Hemoglobinopathy	BEFREE	20676099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemoglobinopathies	Hemoglobinopathy	Pubtator	21220744	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemolysis	Hemolysis	Pubtator	36231035	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	18041654, 18979367, 20922527, 36231035	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis, Non-Immune	Hydrops Fetalis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	BEFREE	30650063		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypochromic anemia	Hypochromic anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27821551	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	35436926	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	31264779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis	Keratoconjunctivitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	30212930	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	12576332, 19587786, 19633202, 19825991, 23380710, 23733339, 24021668, 27152438, 33929501, 35203280, 36485097	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	14512321, 14531904, 14636651, 14744791, 15198727, 15390312, 15630411, 15659348, 15856017, 16628190, 17043020, 17224656, 17576817, 19587786, 19825991 View all (12 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	14512321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	20729467, 21715302, 24222239, 29481579, 31049966, 35203280, 35483876, 36447001, 36485097, 37895004, 7519472	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	12417757, 12560215, 18930124, 19097174, 23874683, 27010793, 28340113, 33929501, 7579412, 8874206	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Megakaryoblastic, of Down Syndrome	Leukemia, Megakaryoblastic, Of Down Syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10360378, 11069021, 15687366, 17043020, 18094719, 18830255, 21083461, 21692995, 22421527, 22627572, 23380710, 23426981, 23874683, 25175265, 25533034 View all (9 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	16012335		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	20032297		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrothrombocytopenia	Macrothrombocytopenia	BEFREE	11809723, 15136229, 16103636, 17538848, 17763153, 18041654, 28082341, 28457011		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrothrombocytopenia	Macrothrombocytopenia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	BEFREE	29743870		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22020876, 24434785, 26848522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31456644		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31093285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15717311, 18631392		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12649131, 15390312, 16840187, 17224656, 23426981, 26848522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	26848522		★★★★★ ★☆☆☆☆ Found in Text Mining only
MELORHEOSTOSIS, ISOLATED	Melorheostosis	BEFREE	9168923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	20922527		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	28340113, 30825517		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	30530752		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	10360378, 14512321, 14636651, 15755901, 16631466, 17570514, 19208846, 21967505, 22160620, 22354171, 28240607, 28963909, 29481579, 30530752, 30825517, 31676828 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	LHGDN	12145700		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	CTD_human_DG	28963909		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	17570514	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	22160620, 30825517	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	24782121, 29481579, 9057652	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myelofibrosis	Myelofibrosis	BEFREE	18206727, 22627572, 23462118, 28622305, 30889303, 31606922, 31749302		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	LHGDN	14512321, 18059480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	16242775, 20220775, 20729467, 21715302, 22902925		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	23208504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	LHGDN	12560215, 12816863, 14636651, 14656875		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	15654280, 20729467, 24746204, 25248574, 29400094, 29611379, 31749302		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorders	Myeloproliferative disorder	Pubtator	14656875, 15686466, 18689547, 19389530, 20729467, 21715302, 27134169, 38066851	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative Syndrome Transient	Transient myeloproliferative disorder	Pubtator	12560215, 12586620, 12649131, 12816863, 14656875, 15180862, 15686466, 17576817, 18930124, 20064153, 20729467, 22296450, 23440243, 23733339, 24021668 View all (14 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE SYNDROME, TRANSIENT	Myeloproliferative disorder	BEFREE	12560215, 12586620, 12649131, 12816863, 14512321, 14636651, 14656875, 15136229, 15390279, 15390312, 15686466, 15895080, 15916804, 16628190, 16631466 View all (52 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE SYNDROME, TRANSIENT	Myeloproliferative disorder	ORPHANET_DG	14636651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	29747653	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20101202, 21538823, 23208504, 25230694, 26848522, 28490464, 28814673, 29400094, 30599775, 31456644		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	14531904, 19212333		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	GENOMICS_ENGLAND_DG	22706301		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	22138223		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	34425872, 35488350	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31093285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	31093285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	36102738	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	20237876, 28935682		★★★★★ ★☆☆☆☆ Found in Text Mining only
Partial Trisomy	Trisomy	BEFREE	19109561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pericardial effusion	Pericardial effusion	BEFREE	20429643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	30650063		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	Pubtator	27821551	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	16384930, 21355091, 23066032		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	16384930, 21355091, 23066032, 23720412	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Porphyria Erythropoietic	Porphyria	Pubtator	11254675, 17148589, 17538848, 18930124	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Porphyria, Erythropoietic	Congenital erythropoietic porphyria	BEFREE	11254675, 17148589, 18930124, 25251786, 30685241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Porphyria, Erythropoietic	Congenital erythropoietic porphyria	GENOMICS_ENGLAND_DG	17148589		★★★★★ ★☆☆☆☆ Found in Text Mining only
Porphyria, Erythropoietic	Congenital erythropoietic porphyria	ORPHANET_DG	17148589		★★★★★ ★☆☆☆☆ Found in Text Mining only
Porphyrias	Porphyria	Pubtator	17148589	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	16012335		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	16631466		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	9695959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	18206727, 22627572, 23462118, 28240607, 28622305, 29400094, 30889303, 31606922, 31749302		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	LHGDN	18206727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15717311, 18631392		★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent erosion of cornea	Erosion Of Cornea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	21538823		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	29993142		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spade-like hand	Spade-Like Hand	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spherocytosis Hereditary	Spherocytosis	Pubtator	15456760	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spherocytosis Type 1	Spherocytosis	Pubtator	36231035	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
SPHEROCYTOSIS, HEREDITARY, 2	Spherocytosis	BEFREE	22164220		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24338397	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	30889303	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	15136229, 23066032, 29611379, 30889303		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	10700180, 17148589, 34390506, 35771876, 36231035, 36291092, 38103735, 38385251, 40323132, 7703487	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia 1	Thrombocytopenia	Pubtator	11675338, 18930124, 36291092	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
THROMBOCYTOPENIA 1 (disorder)	Thrombocytopenia	BEFREE	11675338, 12200364, 14656885, 18930124, 25421114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytopenia Platelet Dysfunction Hemolysis and Imbalanced Globin Synthesis	Thrombocytopenia	Pubtator	12200364, 17209061, 18930124, 25421114, 33054111	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytopenia with congenital dyserythropoietic anemia	Thrombocytopenia With Congenital Dyserythropoietic Anemia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis	Thrombocytopenia, Platelet Dysfunction, Hemolysis, And Imbalanced Globin Synthesis	CLINVAR_DG	10700180, 10733494, 11418466, 11675338, 11809723, 14691578, 15701726, 16103636, 16783379, 17148589, 17209061, 17713552, 17763153, 18041654, 19268002 View all (7 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis	Thrombocytopenia, Platelet Dysfunction, Hemolysis, And Imbalanced Globin Synthesis	GENOMICS_ENGLAND_DG	11809723		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis	Thrombocytopenia, Platelet Dysfunction, Hemolysis, And Imbalanced Globin Synthesis	UNIPROT_DG	12200364		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis	Thrombocytopenia, Platelet Dysfunction, Hemolysis, And Imbalanced Globin Synthesis	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA	Thrombocytopenia, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA	UNIPROT_DG	10700180, 11418466, 11675338, 11809723		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA	Thrombocytopenia, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA	GENOMICS_ENGLAND_DG	11809723, 16103636, 17148589, 24453067, 30228860		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA	Thrombocytopenia, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA	CLINVAR_DG	16783379, 22706301, 23704091, 24453067		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA	Thrombocytopenia, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thrombocytosis	Thrombocytosis	Pubtator	23066032	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Transient Myeloproliferative Disorder of Down Syndrome	Transient Myeloproliferative Disorder Of Down Syndrome	BEFREE	12816863		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transient Myeloproliferative Disorder of Down Syndrome	Transient myeloproliferative disorder	Pubtator	23980066	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transient Myeloproliferative Disorder of Down Syndrome	Transient Myeloproliferative Disorder Of Down Syndrome	CTD_human_DG	24056718		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transient myeloproliferative syndrome	Transient Myeloproliferative Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	17570514		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trisomy	Trisomy	Pubtator	33780474	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Trisomy 21, Meiotic Nondisjunction	Trisomy 21	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Trisomy 21, Mitotic Nondisjunction	Trisomy 21	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tubular Aggregate Myopathy	Tubular Aggregate Myopathy	BEFREE	22421527, 25155832, 31303423		★★★★★ ★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	29743870		★★★★★ ★☆☆☆☆ Found in Text Mining only
VLCAD deficiency	Very long-chain acyl-coa dehydrogenase deficiency	Pubtator	25035146	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia	Dyserythropoietic Anemia With Abnormal Platelets And Neutropenia, X-Linked	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked sideroblastic anemia	Sideroblastic Anemia, X-Linked	BEFREE	30670569		★★★★★ ★☆☆☆☆ Found in Text Mining only

GATA1 (GATA binding protein 1)