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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	10320
Gene name	IKAROS family zinc finger 1
Gene symbol	IKZF1
Synonyms (NCBI Gene)	CVID13Hs.54452IK1IKAROSLYF1LyF-1PPP1R92PRO0758ZNFN1A1
Chromosome	7
Chromosome location	7p12.2
Summary	This gene encodes a transcription factor that belongs to the family of zinc-finger DNA-binding proteins associated with chromatin remodeling. The expression of this protein is restricted to the fetal and adult hemo-lymphopoietic system, and it functions a

Show/Hide all (15)

SNP ID	Visualize variation	Clinical significance	Consequence
rs374333820	A>G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, intron variant
rs530073586	C>A,T	Pathogenic	Intron variant, stop gained, genic downstream transcript variant, coding sequence variant, synonymous variant
rs770551610	G>A,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, missense variant
rs778820674	G>A	Likely-pathogenic	Coding sequence variant, intron variant, missense variant, genic downstream transcript variant
rs869312883	A>G	Pathogenic	Coding sequence variant, intron variant, missense variant, genic downstream transcript variant
rs869312884	A>G	Pathogenic	Coding sequence variant, intron variant, missense variant, genic downstream transcript variant
rs869312885	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant, genic downstream transcript variant
rs1131690788	A>G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, intron variant
rs1245618829	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs1435621658	G>A,T	Likely-pathogenic	Intron variant, genic downstream transcript variant, splice donor variant
rs1554391793	AT>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1584925614	C>T	Pathogenic	Intron variant, missense variant, coding sequence variant, genic downstream transcript variant
rs1584926038	C>T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant, genic downstream transcript variant
rs1584926133	A>G	Likely-pathogenic	Intron variant, missense variant, coding sequence variant, genic downstream transcript variant
rs1585040113	C>G	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant

Show/Hide all (83)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029793	hsa-miR-26b-5p	Microarray	19088304
MIRT170951	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT170952	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT1063091	hsa-miR-1263	CLIP-seq
MIRT1063092	hsa-miR-4291	CLIP-seq
MIRT1063093	hsa-miR-545	CLIP-seq
MIRT1063094	hsa-miR-891b	CLIP-seq
MIRT1063095	hsa-miR-1908	CLIP-seq
MIRT1063096	hsa-miR-1972	CLIP-seq
MIRT1063097	hsa-miR-24	CLIP-seq
MIRT1063098	hsa-miR-2467-5p	CLIP-seq
MIRT1063099	hsa-miR-4529-5p	CLIP-seq
MIRT1063100	hsa-miR-4650-5p	CLIP-seq
MIRT1063101	hsa-miR-4728-3p	CLIP-seq
MIRT1063102	hsa-miR-663	CLIP-seq
MIRT1063091	hsa-miR-1263	CLIP-seq
MIRT1063103	hsa-miR-1285	CLIP-seq
MIRT1063104	hsa-miR-3176	CLIP-seq
MIRT1063105	hsa-miR-3187-5p	CLIP-seq
MIRT1063106	hsa-miR-320e	CLIP-seq
MIRT1063107	hsa-miR-3922-3p	CLIP-seq
MIRT1063092	hsa-miR-4291	CLIP-seq
MIRT1063093	hsa-miR-545	CLIP-seq
MIRT1063108	hsa-miR-612	CLIP-seq
MIRT1063109	hsa-miR-661	CLIP-seq
MIRT1063094	hsa-miR-891b	CLIP-seq
MIRT1063110	hsa-miR-101	CLIP-seq
MIRT1063111	hsa-miR-103b	CLIP-seq
MIRT1063091	hsa-miR-1263	CLIP-seq
MIRT1063112	hsa-miR-1276	CLIP-seq
MIRT1063113	hsa-miR-144	CLIP-seq
MIRT1063114	hsa-miR-148a	CLIP-seq
MIRT1063115	hsa-miR-148b	CLIP-seq
MIRT1063116	hsa-miR-152	CLIP-seq
MIRT1063117	hsa-miR-197	CLIP-seq
MIRT1063118	hsa-miR-208a	CLIP-seq
MIRT1063119	hsa-miR-208b	CLIP-seq
MIRT1063120	hsa-miR-2110	CLIP-seq
MIRT1063121	hsa-miR-2355-5p	CLIP-seq
MIRT1063122	hsa-miR-3150a-5p	CLIP-seq
MIRT1063123	hsa-miR-3150b-5p	CLIP-seq
MIRT1063124	hsa-miR-3179	CLIP-seq
MIRT1063125	hsa-miR-3658	CLIP-seq
MIRT1063126	hsa-miR-3660	CLIP-seq
MIRT1063127	hsa-miR-3667-5p	CLIP-seq
MIRT1063128	hsa-miR-4261	CLIP-seq
MIRT1063129	hsa-miR-4271	CLIP-seq
MIRT1063130	hsa-miR-4276	CLIP-seq
MIRT1063092	hsa-miR-4291	CLIP-seq
MIRT1063131	hsa-miR-4311	CLIP-seq
MIRT1063132	hsa-miR-4436b-3p	CLIP-seq
MIRT1063133	hsa-miR-4476	CLIP-seq
MIRT1063134	hsa-miR-4526	CLIP-seq
MIRT1063135	hsa-miR-4667-5p	CLIP-seq
MIRT1063136	hsa-miR-4685-5p	CLIP-seq
MIRT1063137	hsa-miR-4700-5p	CLIP-seq
MIRT1063138	hsa-miR-4716-5p	CLIP-seq
MIRT1063139	hsa-miR-4725-3p	CLIP-seq
MIRT1063140	hsa-miR-494	CLIP-seq
MIRT1063141	hsa-miR-499-5p	CLIP-seq
MIRT1063142	hsa-miR-515-3p	CLIP-seq
MIRT1063143	hsa-miR-519e	CLIP-seq
MIRT1063093	hsa-miR-545	CLIP-seq
MIRT1063144	hsa-miR-582-5p	CLIP-seq
MIRT1063145	hsa-miR-583	CLIP-seq
MIRT1063146	hsa-miR-622	CLIP-seq
MIRT1063147	hsa-miR-637	CLIP-seq
MIRT1063094	hsa-miR-891b	CLIP-seq
MIRT2014903	hsa-miR-1	CLIP-seq
MIRT2014904	hsa-miR-206	CLIP-seq
MIRT2014905	hsa-miR-3915	CLIP-seq
MIRT2014906	hsa-miR-3928	CLIP-seq
MIRT2014907	hsa-miR-409-3p	CLIP-seq
MIRT2014908	hsa-miR-4303	CLIP-seq
MIRT2014909	hsa-miR-4423-5p	CLIP-seq
MIRT2014910	hsa-miR-4649-3p	CLIP-seq
MIRT2014911	hsa-miR-4762-3p	CLIP-seq
MIRT2014912	hsa-miR-613	CLIP-seq
MIRT2014913	hsa-miR-659	CLIP-seq
MIRT2014914	hsa-miR-9	CLIP-seq
MIRT2247228	hsa-miR-27a	CLIP-seq
MIRT2247229	hsa-miR-27b	CLIP-seq
MIRT2682715	hsa-miR-548c-3p	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0003677	Function	DNA binding	IDA	21548011, 22106042
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	8543809
GO:0003700	Function	DNA-binding transcription factor activity	IBA
GO:0005515	Function	Protein binding	IPI	15491138, 21516116, 24292623, 24722188, 25416956, 25910212, 26871637, 27107012, 28514442, 29892012, 31515488, 32296183, 33961781, 39251607
GO:0005634	Component	Nucleus	IDA	21548011, 22106042
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005721	Component	Pericentric heterochromatin	IDA	21548011
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006325	Process	Chromatin organization	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007498	Process	Mesoderm development	IEA
GO:0007498	Process	Mesoderm development	TAS	8543809
GO:0008270	Function	Zinc ion binding	IEA
GO:0019904	Function	Protein domain specific binding	IPI	15491138
GO:0030098	Process	Lymphocyte differentiation	IEA
GO:0030098	Process	Lymphocyte differentiation	IMP	17934067
GO:0030218	Process	Erythrocyte differentiation	IMP	17934067
GO:0032991	Component	Protein-containing complex	IDA	23071339
GO:0032991	Component	Protein-containing complex	IMP	15491138
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
603023	13176	ENSG00000185811

Q13422

Protein name

DNA-binding protein Ikaros (Ikaros family zinc finger protein 1) (Lymphoid transcription factor LyF-1)

Protein function

Transcription regulator of hematopoietic cell differentiation (PubMed:17934067). Binds gamma-satellite DNA (PubMed:17135265, PubMed:19141594). Plays a role in the development of lymphocytes, B- and T-cells. Binds and activates the enhancer (delt

PDB

6H0F , 8D7Z , 8D80 , 8RQC , 8TNP , 8TNQ , 8TNR

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00096	zf-C2H2	145 → 167	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	173 → 195	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	201 → 224	Zinc finger, C2H2 type	Domain

Tissue specificity

TISSUE SPECIFICITY: Abundantly expressed in thymus, spleen and peripheral blood Leukocytes and lymph nodes. Lower expression in bone marrow and small intestine. {ECO:0000269|PubMed:8543809, ECO:0000269|PubMed:8964602}.

Sequence

MDADEGQDMSQVSGKESPPVSDTPDEGDEPMPIPEDLSTTSGGQQSSKSDRVVASNVKVE
TQSDEENGRACEMNGEECAEDLRMLDASGEKMNGSHRDQGSSALSGVGGIRLPNGKLKCD
ICGIICIGPNVLMVHKRSHTGERPFQCNQCGASFTQKGNLLRHIKLHSGEKPFKCHLCNY
ACRRRDALTGHLRTHSVGKPHKCGYCGRSYKQRSSLEEHKERCHNYLESMGLPGTLYPVI
KEETNHSEMAEDLCKIGSERSLVLDRLASNVAKRKSSMPQKFLGDKGLSDTPYDSSASYE
KENEMMKSHVMDQAINNAINYLGAESLRPLVQTPPGGSEVVPVISPMYQLHKPLAEGTPR
SNHSAQDSAVENLLLLSKAKLVPSEREASPSNSCQDSTDTESNNEEQRSGLIYLTNHIAP
HARNGLSLKEEHRAYDLLRAASENSQDALRVVSTSGEQMKVYKCEHCRVLFLDHVMYTIH
MGCHGFRDPFECNMCGYHSQDRYEFSSHITRGEHRFHMS

Sequence length

519

Interactions

View interactions

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 (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acute lymphoid leukemia	Likely pathogenic; Pathogenic	rs2153477847, rs2153469119, rs2153477560, rs2538096964, rs2538277509, rs772322516, rs2538103428	RCV003444111 RCV003444112 RCV003444121 RCV003444122 RCV003444123 RCV003444125 RCV003444126 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IKZF1-related disorder	Pathogenic	rs374333820	RCV004753164	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunodeficiency	Pathogenic	rs374333820	RCV004798881	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inherited Immunodeficiency Diseases	Pathogenic; Likely pathogenic	rs374333820, rs1584926133, rs1585040113	RCV001027577 RCV001027582 RCV001027576	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pancytopenia due to IKZF1 mutations	Likely pathogenic; Pathogenic	rs2153477847, rs869312883, rs770551610, rs2538941518, rs1131690788, rs530073586, rs374333820	RCV001706897 RCV000210348 RCV000210346 RCV003153165 RCV000492439 RCV000853408 RCV003326142 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (46)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-LYMPHOBLASTIC LEUKEMIA/LYMPHOMA WITH T	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LEFT-SIDED ULCERATIVE COLITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic myelogenous leukemia, BCR-ABL1 positive	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLITIS, ULCERATIVE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED IMMUNODEFICIENCY DUE TO DIMERIZATION DEFECTIVE IKAROS MUTATION	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMMON VARIABLE IMMUNODEFICIENCY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMMON VARIABLE IMMUNODEFICIENCY PHENOTYPE DUE TO IKAROS FUNCTIONAL HAPLOINSUFFICIENCY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diamond-Blackfan anemia-like	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DISORDER OF PHARYNX	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET COMBINED IMMUNODEFICIENCY WITH LOW IG DUE TO DOMINANT NEGATIVE IKAROS MUTATION	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRO-ENTEROPANCREATIC NEUROENDOCRINE TUMOR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia, acute lymphocytic, susceptibility to, 2	association	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCYTOPENIA DUE TO IKAROS FAMILY ZINC FINGER 1 MUTATIONS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROSACEA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STEVENS-JOHNSON SYNDROME	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Teratoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOXIC EPIDERMAL NECROLYSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER RESPIRATORY TRACT DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (171)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
22q11 Deletion Syndrome	22q11 deletion syndrome	Pubtator	34410295	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Acquired Hypogammaglobulinemia	Common Variable Immunodeficiency	BEFREE	29889099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acquired Hypogammaglobulinemia	Common Variable Immunodeficiency	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	25423013, 29292192		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	10577847, 10945610, 12028018, 12094252, 15390181, 16205638, 18408710, 19129520, 19620627, 19770381, 19880498, 20013897, 20139093, 20570445, 20739952 View all (66 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	11830486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	21737484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	10577847, 10945610, 19129520, 19620627, 19880498, 20013897, 20739952, 21169835, 21740479, 21960589, 22297722, 22368272, 22441210, 22699455, 22782532 View all (28 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	10753856, 28879630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	17934067, 32845957, 37833543	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	33568645	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	33568645, 35883614	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	40048636	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	34980595	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	21270240, 27939403, 28552951		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune disease	Pubtator	28552951, 33031316	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Lymphoproliferative Syndrome	Autoimmune lymphoproliferative disorder	Pubtator	35058929	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1	Lymphoblastic Leukemia	BEFREE	18650450, 18838475, 19620627, 19770381, 21960589, 25501350, 26194343, 28842136, 29050694, 29214878, 29575541		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blast Crisis	Blast crisis	Pubtator	24673583, 35815090	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	18408710, 19589926, 26186983, 27198500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	33369444	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	31320627	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24098497, 35253733	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	ORPHANET_DG	18408710, 19129520, 19770381, 23751147		★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	24522918	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33977077, 35525905	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	23580163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	27173324	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	10577847, 10945610, 18768390, 19129520, 19470474, 19620627, 19684604, 19880498, 20013897, 20739952, 21102428, 21169835, 21270240, 21740479, 21889209 View all (48 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	CTD_human_DG	19684604		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	11830486, 26069293		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	20428194, 20508609, 24791856, 26697989		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	27082601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	32908909	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	21737484, 38644767	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25928810, 26445409, 27726312, 29992492		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21737484, 24485021, 25928810, 26445409, 27726312, 29796114, 32958500, 33478584, 33723131, 35000264, 35253733, 35290664, 37438612, 37755164, 37901447, 38644767 View all (1 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	BEFREE	29889099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	26981933, 29889099, 31057532		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	26981933, 35479066	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Common Variable Immunodeficiency	Common Variable Immunodeficiency	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conjunctivitis	Conjunctivitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal erosion	Corneal erosion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	21383526	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Allergic Contact	Dermatitis	BEFREE	28914974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	21270240	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	21270240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	25751624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	10753856, 28879630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	22441210, 31350265		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	34560013	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysgammaglobulinemia	Dysgammaglobulinemia	BEFREE	27939403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Entropion	Entropion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Stricture	Esophageal Stricture	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	21548011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia Complementation Group J	Fanconi anemia	Pubtator	31784504	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastro-enteropancreatic neuroendocrine tumor	Digestive system neuroendocrine neoplasm	CTD_human_DG	29915428		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	34162668	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	25271777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glucocorticoid Receptor Deficiency	Glucocorticoid Receptor Deficiency	BEFREE	27979924		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	37231055	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	22889700		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangioblastoma	Hemangioblastoma	BEFREE	26768750		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	24324784, 32845957, 33031316	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	10753856, 22422485, 24324784	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	22782532, 29363546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	22782532		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	22422485, 29793312		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypokalemic metabolic alkalosis	Hypokalemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27899802	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	35058929, 38438084	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	31069201		★★★★★ ★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY, COMMON VARIABLE, 13	Common Variable Immunodeficiency	UNIPROT_DG	21548011, 26981933		★★★★★ ★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY, COMMON VARIABLE, 13	Common Variable Immunodeficiency	ORPHANET_DG	21548011, 26981933		★★★★★ ★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY, COMMON VARIABLE, 13	Common Variable Immunodeficiency	GENOMICS_ENGLAND_DG	26981933		★★★★★ ★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY, COMMON VARIABLE, 13	Common Variable Immunodeficiency	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunoglobulin Deficiency, Late-Onset	Immunoglobulin Deficiency	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	29991969	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Interstitial Cystitis	Interstitial Cystitis	BEFREE	22997141		★★★★★ ★☆☆☆☆ Found in Text Mining only
L2 Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	CTD_human_DG	19684604		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	11489963, 11830486, 11908734, 19470474, 20428194, 24324784, 24659638, 24791856, 25331116, 25753742, 27865806, 27939403, 27979924, 29519871, 29681510, 29763621, 30810385, 30877974 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	11489963		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	11489963, 11745366, 11937265, 18650450, 21960589, 22106042, 22875627, 24324784, 24564228, 26655717, 27067989, 27899802, 28751559, 31487824, 33531656, 35525905, 35534777, 9892693 View all (3 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	18519632	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	11054064, 22422485, 22581002, 25331116, 26069293, 32011516, 33081843, 33560403, 33911178, 35534777, 35562747, 35708137, 36442087, 37833543, 38096371	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	26886259	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 2	Lymphoblastic Leukemia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11830486, 19589926, 22422485, 24791856, 25331116, 26069293, 27294874, 27604872, 29292192		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	12412579		★★★★★ ★☆☆☆☆ Found in Text Mining only
Libman-Sacks Disease	Nonbacterial verrucal endocardiosis	CTD_human_DG	19838193		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23580163	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	22046141, 23236436, 26200652, 29945920, 33031316, 33727237	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	CTD_human_DG	19838193		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	20516000, 20680283, 22046141, 22782532, 24697319, 25271777, 26200652, 27684961		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Nephritis	Lupus Nephritis	BEFREE	27684961		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	16205638, 27957801, 30044693		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	10597273, 10956435		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	LHGDN	11937265, 18332232		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	CTD_human_DG	11980663		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	Pubtator	27588474	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	23874502		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	23580163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12094252, 15390181, 21737484, 23608171, 23804397, 25753742, 27184773, 29363546, 29743561, 29763621		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	BEFREE	20428194		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	24292623, 24292625, 26269456, 28017969, 28052520, 28643330, 29729093, 30026574, 30118587, 30234487, 30288348, 30312729, 30760870, 31157769, 31653349		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	24292625, 24914135, 26183205, 26269456, 26430725, 27142104, 27881177, 28052520, 28643330, 29729093, 30228232, 30234487, 30696815, 30760870, 30898137 View all (9 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	GWASCAT_DG	29594489		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	23456643		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	34922439	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	20428194, 27294874		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	18408710, 19589926, 20082691, 23543457, 25370416, 26186983, 27198500, 30511400		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorders	Myeloproliferative disorder	Pubtator	27415155	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	GWASDB_DG	20512145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10463586, 18519632, 19620627, 19796813, 21383526, 21642990, 24659638, 24791856, 26069293, 26219304, 26912004, 28190001, 29960886, 31846142		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	20516000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	36442087	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	15606754	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	32845957	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nijmegen Breakage Syndrome	Nijmegen Breakage Syndrome	BEFREE	21889209		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	GWASCAT_DG	30837455		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30210606		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	26023084, 38644767	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	19016724		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia due to IKZF1 mutations	Pancytopenia	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Periodontitis	Periodontitis	Pubtator	34859622	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	21383526		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	12937159	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pre B-cell acute lymphoblastic leukemia	B-cell Lymphoma	BEFREE	28192788, 28555080		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor B-cell acute lymphoblastic leukemia	Lymphoblastic Leukemia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	12094252, 19620627, 19796813, 22875627, 23751147, 27067989, 27815723, 28192788, 28369050, 28555080, 29889099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	ORPHANET_DG	18408710, 19129520, 19770381, 23751147		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	12094252, 28192788		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	GWASCAT_DG	23996088, 29296818, 29632299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	CTD_human_DG	24141364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	12094252, 15390181, 16205638, 19129520, 19770381, 20139093, 21149616, 21740479, 22441210, 22997141, 23065506, 23585525, 23804397, 23930217, 24064621 View all (25 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	15390181, 16205638, 18838475, 19131787		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	GWASDB_DG	19684603, 19684604, 23512250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	GWASCAT_DG	19684603, 19684604, 22076464, 29348612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	CTD_human_DG	19684604		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	10473095, 12094252, 12648068, 24740809, 25655195, 30578688		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	31057532, 31316524		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	36655999	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schwartz-Jampel Syndrome	Schwartz-Jampel Syndrome	BEFREE	25672763, 26448174, 30481825		★★★★★ ★☆☆☆☆ Found in Text Mining only
secondary acute myeloid leukemia	Myeloid leukemia	BEFREE	20428194, 22887079		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	37771582	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Short QT Syndrome 1	Short qt syndrome	Pubtator	32328155	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Shwachman syndrome	Shwachman Syndrome	BEFREE	19016724		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	16309199	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34091115	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stevens-Johnson Syndrome	Stevens-Johnson Syndrome	ORPHANET_DG	25672763		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stevens-Johnson syndrome	Stevens-Johnson Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum	Stevens-Johnson Syndrome	BEFREE	25672763		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35874675	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	Pubtator	33568645	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	32845957, 37833543	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	BEFREE	25672763, 26448174, 30481825		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Turcot syndrome (disorder)	Turcot syndrome	BEFREE	20233627		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	CTD_human_DG	20228799		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vasculitis	Vasculitis	BEFREE	20516000		★★★★★ ★☆☆☆☆ Found in Text Mining only

IKZF1 (IKAROS family zinc finger 1)