GFI1 (growth factor independent 1 transcriptional repressor)

Gene

• Entrez ID: 2672
• Gene name: Growth factor independent 1 transcriptional repressor
• Gene symbol: GFI1
• Synonyms (NCBI Gene): GFI-1, GFI1A, SCN2, ZNF163
• Chromosome: 1
• Chromosome location: 1p22.1
• Summary: This gene encodes a nuclear zinc finger protein that functions as a transcriptional repressor. This protein plays a role in diverse developmental contexts, including hematopoiesis and oncogenesis. It functions as part of a complex along with other cofacto

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28936381	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs28936382	T>C	Pathogenic, likely-benign	Coding sequence variant, missense variant
rs35896485	GAGAGAGAGAGAGAGAGAGAGA>-,GA,GAGAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAG	Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs184691209	C>T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT438210	hsa-miR-196b-5p	ChIP-seq	24334453
MIRT437963	hsa-miR-7-5p	qRT-PCR	24707474
MIRT438210	hsa-miR-196b-5p	ChIP-seq	24334453
MIRT437963	hsa-miR-7-5p	qRT-PCR	24707474
MIRT440577	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT440577	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT1016618	hsa-miR-1257	CLIP-seq
MIRT1016619	hsa-miR-3655	CLIP-seq
MIRT1016620	hsa-miR-3913-3p	CLIP-seq
MIRT1016621	hsa-miR-4765	CLIP-seq
MIRT1016622	hsa-miR-489	CLIP-seq
MIRT1016623	hsa-miR-1179	CLIP-seq
MIRT1016624	hsa-miR-2355-3p	CLIP-seq
MIRT1016625	hsa-miR-3151	CLIP-seq
MIRT1016626	hsa-miR-3169	CLIP-seq
MIRT1016627	hsa-miR-3609	CLIP-seq
MIRT1016628	hsa-miR-3973	CLIP-seq
MIRT1016629	hsa-miR-4318	CLIP-seq
MIRT1016630	hsa-miR-4447	CLIP-seq
MIRT1016631	hsa-miR-4472	CLIP-seq
MIRT1016632	hsa-miR-4639-3p	CLIP-seq
MIRT1016633	hsa-miR-4646-3p	CLIP-seq
MIRT1016634	hsa-miR-491-5p	CLIP-seq
MIRT1016635	hsa-miR-499-3p	CLIP-seq
MIRT1016636	hsa-miR-499a-3p	CLIP-seq
MIRT1016637	hsa-miR-520g	CLIP-seq
MIRT1016638	hsa-miR-520h	CLIP-seq
MIRT1016639	hsa-miR-548ah	CLIP-seq
MIRT1016640	hsa-miR-615-5p	CLIP-seq
MIRT2000936	hsa-miR-3182	CLIP-seq
MIRT2000937	hsa-miR-4659a-3p	CLIP-seq
MIRT2000938	hsa-miR-4659b-3p	CLIP-seq
MIRT2234351	hsa-miR-1296	CLIP-seq
MIRT2234352	hsa-miR-223	CLIP-seq
MIRT2234353	hsa-miR-2909	CLIP-seq
MIRT2234354	hsa-miR-3158-3p	CLIP-seq
MIRT1016626	hsa-miR-3169	CLIP-seq
MIRT2234355	hsa-miR-3652	CLIP-seq
MIRT2234356	hsa-miR-3691-3p	CLIP-seq
MIRT2234357	hsa-miR-4328	CLIP-seq
MIRT2234358	hsa-miR-4430	CLIP-seq
MIRT2234359	hsa-miR-4446-3p	CLIP-seq
MIRT2234360	hsa-miR-4492	CLIP-seq
MIRT2234361	hsa-miR-4498	CLIP-seq
MIRT2234362	hsa-miR-4533	CLIP-seq
MIRT2234363	hsa-miR-4747-5p	CLIP-seq
MIRT2234364	hsa-miR-4762-3p	CLIP-seq
MIRT2234365	hsa-miR-762	CLIP-seq
MIRT2234366	hsa-miR-875-3p	CLIP-seq
MIRT2450214	hsa-miR-1236	CLIP-seq
MIRT2450215	hsa-miR-2355-5p	CLIP-seq
MIRT2450216	hsa-miR-3164	CLIP-seq
MIRT2450217	hsa-miR-323b-3p	CLIP-seq
MIRT1016627	hsa-miR-3609	CLIP-seq
MIRT2450218	hsa-miR-3647-3p	CLIP-seq
MIRT1016619	hsa-miR-3655	CLIP-seq
MIRT1016620	hsa-miR-3913-3p	CLIP-seq
MIRT1016628	hsa-miR-3973	CLIP-seq
MIRT1016622	hsa-miR-489	CLIP-seq
MIRT1016637	hsa-miR-520g	CLIP-seq
MIRT1016638	hsa-miR-520h	CLIP-seq
MIRT1016639	hsa-miR-548ah	CLIP-seq
MIRT2450219	hsa-miR-617	CLIP-seq
MIRT2450220	hsa-miR-622	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ZBTB16	Unknown	19723763

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	15947108, 19506020
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	29670289, 30612738
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	15947108
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	15947108, 19506020
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IBA
GO:0005515	Function	Protein binding	IPI	11060035, 12874834, 16287849, 17197705, 17636019, 17909014, 18805794, 19506020, 20190815, 20547752, 21570500
GO:0005634	Component	Nucleus	IDA	12874834, 20547752
GO:0005634	Component	Nucleus	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006974	Process	DNA damage response	IDA	15741314, 16294045
GO:0006974	Process	DNA damage response	IDA	29651020
GO:0008270	Function	Zinc ion binding	IEA
GO:0010957	Process	Negative regulation of vitamin D biosynthetic process	IDA	15947108
GO:0010977	Process	Negative regulation of neuron projection development	IDA	19026687
GO:0016363	Component	Nuclear matrix	IDA	12874834
GO:0016363	Component	Nuclear matrix	IEA
GO:0016604	Component	Nuclear body	IDA	11060035
GO:0017053	Component	Transcription repressor complex	IDA	12874834, 19506020
GO:0032088	Process	Negative regulation of NF-kappaB transcription factor activity	ISS
GO:0034121	Process	Regulation of toll-like receptor signaling pathway	IDA	20547752
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	12874834
GO:0046872	Function	Metal ion binding	IEA
GO:0070105	Process	Positive regulation of interleukin-6-mediated signaling pathway	IDA	11060035
GO:0071222	Process	Cellular response to lipopolysaccharide	IEP	20547752
GO:0140767	Function	Enzyme-substrate adaptor activity	IDA	29651020
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000042	Process	Negative regulation of double-strand break repair via homologous recombination	IDA	23333306, 23345425

Other IDs

• MIM: 600871
• HGNC: 4237
• e!Ensembl: ENSG00000162676

Protein

• UniProt ID: Q99684
• Protein name: Zinc finger protein Gfi-1 (Growth factor independent protein 1) (Zinc finger protein 163)
• Protein function: Transcription repressor essential for hematopoiesis (PubMed:11060035, PubMed:17197705, PubMed:17646546, PubMed:18805794, PubMed:19164764, PubMed:20190815, PubMed:8754800). Functions in a cell-context and development-specific manner (PubMed:11060
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00096	zf-C2H2	255 → 278	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	284 → 306	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	312 → 334	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	340 → 362	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	368 → 390	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	396 → 419	Zinc finger, C2H2 type	Domain

• Sequence:

  MPRSFLVKSKKAHSYHQPRSPGPDYSLRLENVPAPSRADSTSNAGGAKAEPRDRLSPESQ
  LTEAPDRASASPDSCEGSVCERSSEFEDFWRPPSPSASPASEKSMCPSLDEAQPFPLPFK
  PYSWSGLAGSDLRHLVQSYRPCGALERGAGLGLFCEPAPEPGHPAALYGPKRAAGGAGAG
  APGSCSAGAGATAGPGLGLYGDFGSAAAGLYERPTAAAGLLYPERGHGLHADKGAGVKVE
  SELLCTRLLLGGGSYKCIKCSKVFSTPHGLEVHVRRSHSGTRPFACEMCGKTFGHAVSLE
  QHKAVHSQERSFDCKICGKSFKRSSTLSTHLLIHSDTRPYPCQYCGKRFHQKSDMKKHTF
  IHTGEKPHKCQVCGKAFSQSSNLITHSRKHTGFKPFGCDLCGKGFQRKVDLRRHRETQHG
  LK

• Sequence length: 422

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Neutropenia, severe congenital, 2, autosomal dominant	Pathogenic	rs28936381	RCV000009278	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATAXIA, SPINOCEREBELLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT SEVERE CONGENITAL NEUTROPENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRO-ENTEROPANCREATIC NEUROENDOCRINE TUMOR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GFI1-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, ADULT	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 2	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonimmune chronic idiopathic neutropenia of adults	Uncertain significance; Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSTRUCTIVE SLEEP APNEA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe congenital neutropenia	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SPINOCEREBELLAR ATAXIAS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abetalipoproteinemia	Abetalipoproteinemia	BEFREE	19887785		★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	31676828		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	23410974, 23528269		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	28894287, 30679800, 31508375		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG	17330099		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG	17330099		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	23410974, 23528269		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	25043047, 25117708, 26160036, 28329683, 30659187		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	11503967		★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	BEFREE	15604887		★☆☆☆☆ Found in Text Mining only
Anhydrotic Ectodermal Dysplasias	Hypohidrotic ectodermal dysplasia	BEFREE	15604887		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	27840243		★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	CTD_human_DG	16122429		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	Pubtator	35039093	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	37857414	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	28662467		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	27600904		★☆☆☆☆ Found in Text Mining only
Autosomal dominant severe congenital neutropenia	Congenital Neutropenia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Diseases	Bone Disease	BEFREE	22042697		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36936167	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	15466176		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15466176		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	31612364		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	30197537		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	30197537		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	23410974, 23528269		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	25043047, 25117708, 26160036, 28329683, 30659187		★☆☆☆☆ Found in Text Mining only
Christ-Siemens-Touraine syndrome	Hypohidrotic Ectodermal Dysplasia, X-Linked	BEFREE	15604887		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	29925903		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28387757, 30606770		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30016783	Associate	★☆☆☆☆ Found in Text Mining only
Congenital neutropenia	Congenital Neutropenia	BEFREE	12778173, 16716599, 17053055, 18328744, 18611981, 19775295, 29879182		★☆☆☆☆ Found in Text Mining only
Congenital neutropenia	Congenital Neutropenia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic neutropenia	Pubtator	37993852	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	34368875	Stimulate	★☆☆☆☆ Found in Text Mining only
Gastro-enteropancreatic neuroendocrine tumor	Digestive system neuroendocrine neoplasm	CTD_human_DG	29915428		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gingivitis	Gingivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	33092545	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	26447191		★☆☆☆☆ Found in Text Mining only
Hyperoxia	Hyperoxia	Pubtator	34868007	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	29602944		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	34868007	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	25719218	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	16716599, 23410974, 24334453, 26447191, 29925903, 30606770		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	27080012, 32362605, 34016956, 36976323	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	32362605	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG	17330099		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	20075157, 22932805, 26847026, 27080012, 27216773, 27820734, 28574132, 28894287, 29147018, 29494986, 29590629, 30679800, 31508375, 31649884, 31676828		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	12778173, 17636019, 18328744, 20075157, 29879182, 30171085, 31676828		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	11221845		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	27600904		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	27600904		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	27600904		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	27600904		★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	23410974, 29651020		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	26447191		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	25043047		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	15466176		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15947108, 17207994, 30606770		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27820734, 28894287, 29651020, 30197537, 30606770		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30197537		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	25043047, 25117708, 26160036, 28329683, 30659187		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	26160036	Associate	★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	27080012, 31508375		★☆☆☆☆ Found in Text Mining only
Monocytosis	Monocytosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	22042697, 28119431, 28940410, 30286780		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	20087403, 21602820		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	20087403	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	27386562		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myelodysplasia	Myelodysplasia	BEFREE	27820734		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	20075157, 27080012, 27216773, 27820734, 28549617, 28894287, 31508375, 31676828		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	27080012	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	28894287	Inhibit	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	19360458		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	19887785		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	29925903		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15466176, 16716599, 17636019, 23528269, 30197537, 30286780, 30296465, 30606770, 30659187, 31289136		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	12778173, 17636019, 18328744, 20075157, 20803142, 29879182, 30171085, 31676828		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	12778173, 17636019, 23454784, 37993852	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neutropenia Severe Congenital Autosomal Recessive 3	Severe congenital neutropenia	Pubtator	12778173, 19775295, 20803142, 21891829, 23454784, 32066420, 37993852	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia, Nonimmune Chronic Idiopathic, Adult	Neutropenia	GENOMICS_ENGLAND_DG	12530980, 12778173		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia, Nonimmune Chronic Idiopathic, Adult	Neutropenia	UNIPROT_DG	12778173		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia, Nonimmune Chronic Idiopathic, Adult	Neutropenia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia, Severe Congenital, Autosomal Dominant 1	Neutropenia	ORPHANET_DG	12778173		★☆☆☆☆ Found in Text Mining only
Neutropenia, Severe Congenital, Autosomal Dominant 2	Neutropenia	GENOMICS_ENGLAND_DG	12530980, 12778173		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia, Severe Congenital, Autosomal Dominant 2	Neutropenia	UNIPROT_DG	12778173		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia, Severe Congenital, Autosomal Dominant 2	Neutropenia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia, Severe Congenital, Autosomal Dominant 2	Neutropenia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	29282250		★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	29879182		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pharyngitis	Pharyngitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	23410974		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15947108, 17207994, 30606770		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15947108, 17207994		★☆☆☆☆ Found in Text Mining only
Pyoderma Gangrenosum	Pyoderma Gangrenosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent aphthous ulcer	Aphthous Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Reticular dysgenesis	Reticular dysgenesis	BEFREE	19896777		★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	37993852	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	15466176		★☆☆☆☆ Found in Text Mining only
Specific granule deficiency	Specific Granule Deficiency	BEFREE	17244686		★☆☆☆☆ Found in Text Mining only
Specific Granule Deficiency	Specific granule deficiency	Pubtator	17244686	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	CTD_human_DG	16122429		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	CTD_human_DG	16122429		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 4	Spinocerebellar Ataxia	CTD_human_DG	16122429		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 5	Spinocerebellar Ataxia	CTD_human_DG	16122429		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 6 (disorder)	Spinocerebellar Ataxia	CTD_human_DG	16122429		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	CTD_human_DG	16122429		★☆☆☆☆ Found in Text Mining only
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	BEFREE	19782549		★☆☆☆☆ Found in Text Mining only