CORO1A (coronin 1A)

Gene

• Entrez ID: 11151
• Gene name: Coronin 1A
• Gene symbol: CORO1A
• Synonyms (NCBI Gene): CLABP, CLIPINA, HCORO1, IMD8, TACO, p57
• Chromosome: 16
• Chromosome location: 16p11.2
• Summary: This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein com

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35967690	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs606231256	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1213680890	GTGC>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005787	hsa-miR-221-3p	Western blot	21226887
MIRT005791	hsa-miR-222-3p	Western blot	21226887
MIRT030627	hsa-miR-24-3p	Western blot	20138800
MIRT039639	hsa-miR-615-3p	CLASH	23622248
MIRT2204107	hsa-miR-3652	CLIP-seq
MIRT2204108	hsa-miR-4430	CLIP-seq
MIRT2204109	hsa-miR-4474-3p	CLIP-seq
MIRT2204110	hsa-miR-4505	CLIP-seq
MIRT2204111	hsa-miR-4646-5p	CLIP-seq
MIRT2204107	hsa-miR-3652	CLIP-seq
MIRT2204108	hsa-miR-4430	CLIP-seq
MIRT2204109	hsa-miR-4474-3p	CLIP-seq
MIRT2204110	hsa-miR-4505	CLIP-seq
MIRT2204111	hsa-miR-4646-5p	CLIP-seq
MIRT2447466	hsa-miR-4659a-5p	CLIP-seq
MIRT2447467	hsa-miR-4659b-5p	CLIP-seq
MIRT2447468	hsa-miR-4727-5p	CLIP-seq
MIRT2447469	hsa-miR-4768-5p	CLIP-seq
MIRT2447470	hsa-miR-4769-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001771	Process	Immunological synapse formation	IMP	24760828
GO:0001772	Component	Immunological synapse	IDA	24760828
GO:0001772	Component	Immunological synapse	IEA
GO:0001845	Process	Phagolysosome assembly	IMP	12132654
GO:0001891	Component	Phagocytic cup	IDA	17442961
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003779	Function	Actin binding	IEA
GO:0003779	Function	Actin binding	IPI	23100250
GO:0003785	Function	Actin monomer binding	IMP	23100250
GO:0005515	Function	Protein binding	IPI	9365277, 11094157, 17652161, 21988832, 25416956, 31515488, 32296183, 32814053
GO:0005634	Component	Nucleus	IDA	17341475
GO:0005737	Component	Cytoplasm	IDA	17341475
GO:0005737	Component	Cytoplasm	IEA
GO:0005769	Component	Early endosome	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005884	Component	Actin filament	IDA	15800061
GO:0005886	Component	Plasma membrane	IDA	17341475, 17442961
GO:0005886	Component	Plasma membrane	IEA
GO:0005911	Component	Cell-cell junction	IEA
GO:0005938	Component	Cell cortex	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0006906	Process	Vesicle fusion	IEA
GO:0006909	Process	Phagocytosis	IMP	17442961
GO:0007015	Process	Actin filament organization	IBA
GO:0007015	Process	Actin filament organization	IEA
GO:0008064	Process	Regulation of actin polymerization or depolymerization	IEA
GO:0008092	Function	Cytoskeletal protein binding	IEA
GO:0008092	Function	Cytoskeletal protein binding	ISS
GO:0008360	Process	Regulation of cell shape	IEA
GO:0010631	Process	Epithelial cell migration	IEA
GO:0015629	Component	Actin cytoskeleton	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016477	Process	Cell migration	IBA
GO:0030027	Component	Lamellipodium	IDA	17442961
GO:0030027	Component	Lamellipodium	IEA
GO:0030036	Process	Actin cytoskeleton organization	IMP	17442961
GO:0030424	Component	Axon	IEA
GO:0030595	Process	Leukocyte chemotaxis	IEA
GO:0030670	Component	Phagocytic vesicle membrane	IEA
GO:0030833	Process	Regulation of actin filament polymerization	IEA
GO:0030864	Component	Cortical actin cytoskeleton	IDA	24760828
GO:0030864	Component	Cortical actin cytoskeleton	IDA	15800061
GO:0031252	Component	Cell leading edge	IEA
GO:0031339	Process	Negative regulation of vesicle fusion	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031589	Process	Cell-substrate adhesion	IMP	17442961
GO:0032036	Function	Myosin heavy chain binding	IPI	23100250
GO:0032796	Process	Uropod organization	IEA
GO:0032956	Process	Regulation of actin cytoskeleton organization	IMP	24760828
GO:0032991	Component	Protein-containing complex	IDA	11094157
GO:0034097	Process	Response to cytokine	IEA
GO:0038180	Process	Nerve growth factor signaling pathway	IEA
GO:0042098	Process	T cell proliferation	IEA
GO:0042102	Process	Positive regulation of T cell proliferation	IEA
GO:0042110	Process	T cell activation	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	15601263
GO:0043029	Process	T cell homeostasis	IEA
GO:0043320	Process	Natural killer cell degranulation	IMP	24760828
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043548	Function	Phosphatidylinositol 3-kinase binding	IDA	11094157
GO:0045087	Process	Innate immune response	NAS	17341475
GO:0045202	Component	Synapse	IEA
GO:0045335	Component	Phagocytic vesicle	IDA	17442961
GO:0048873	Process	Homeostasis of number of cells within a tissue	IEA
GO:0050870	Process	Positive regulation of T cell activation	IEA
GO:0050918	Process	Positive chemotaxis	IDA	17442961
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IDA	7758584, 15601263
GO:0051015	Function	Actin filament binding	IEA
GO:0051015	Function	Actin filament binding	IMP	22364218, 23100250
GO:0051126	Process	Negative regulation of actin nucleation	IDA	17442961
GO:0051129	Process	Negative regulation of cellular component organization	IEA
GO:0051279	Process	Regulation of release of sequestered calcium ion into cytosol	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0061502	Process	Early endosome to recycling endosome transport	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337, 23533145
GO:0071353	Process	Cellular response to interleukin-4	IEA
GO:0072678	Process	T cell migration	IEA
GO:0072679	Process	Thymocyte migration	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:2000406	Process	Positive regulation of T cell migration	IEA

Other IDs

• MIM: 605000
• HGNC: 2252
• e!Ensembl: ENSG00000102879

Protein

• UniProt ID: P31146
• Protein name: Coronin-1A (Coronin-like protein A) (Clipin-A) (Coronin-like protein p57) (Tryptophan aspartate-containing coat protein) (TACO)
• Protein function: May be a crucial component of the cytoskeleton of highly motile cells, functioning both in the invagination of large pieces of plasma membrane, as well as in forming protrusions of the plasma membrane involved in cell locomotion. In mycobacteria
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08953	DUF1899	4 → 69	Domain of unknown function (DUF1899)	Domain
  PF00400	WD40	72 → 110	WD domain, G-beta repeat	Repeat
  PF00400	WD40	121 → 160	WD domain, G-beta repeat	Repeat
  PF00400	WD40	167 → 204	WD domain, G-beta repeat	Repeat
  PF16300	WD40_4	345 → 387		Repeat
  PF08954	Trimer_CC	410 → 461	Trimerisation motif	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Expressed in brain, thymus, spleen, bone marrow and lymph node. Low in lung and gut.
• Sequence:

  MSRQVVRSSKFRHVFGQPAKADQCYEDVRVSQTTWDSGFCAVNPKFVALICEASGGGAFL
  VLPLGKTGRVDKNAPTVCGHTAPVLDIAWCPHNDNVIASGSEDCTVMVWEIPDGGLMLPL
  REPVVTLEGHTKRVGIVAWHTTAQNVLLSAGCDNVIMVWDVGTGAAMLTLGPEVHPDTIY
  SVDWSRDGGLICTSCRDKRVRIIEPRKGTVVAEKDRPHEGTRPVRAVFVSEGKILTTGFS
  RMSERQVALWDTKHLEEPLSLQELDTSSGVLLPFFDPDTNIVYLCGKGDSSIRYFEITSE
  APFLHYLSMFSSKESQRGMGYMPKRGLEVNKCEIARFYKLHERRCEPIAMTVPRKSDLFQ
  EDLYPPTAGPDPALTAEEWLGGRDAGPLLISLKDGYVPPKSRELRVNRGLDTGRRRAAPE
  ASGTPSSDAVSRLEEEMRKLQATVQELQKRLDRLEETVQAK

• Sequence length: 461

Pathways

KEGG:

Phagosome
Tuberculosis

Reactome:

Prevention of phagosomal-lysosomal fusion

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
Severe combined immunodeficiency disease	Likely pathogenic	rs2151063606	RCV002266435	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe combined immunodeficiency due to CORO1A deficiency	Likely pathogenic; Pathogenic	rs2151063274, rs2151063096, rs112728974, rs606231256, rs2543751507, rs2543755846, rs2543756633, rs606231246, rs1213680890, rs397514755	RCV001379004 RCV001897325 RCV001993998 RCV000144854 RCV002933418 RCV003031427 RCV003741698 RCV000033858 RCV000820807 RCV000054815	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sinoatrial node disorder	Likely pathogenic	rs2543751945	RCV002305649	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Conflicting classifications of pathogenicity	ClinVar GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORO1A-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMODYSPLASIA VERRUCIFORMIS	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE COMBINED IMMUNODEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUBERCULOMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	16315255		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	31109257		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	16315255		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	11891530		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	21489049		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	19097825	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	19097825		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	19097825	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	15900410, 27015986, 30352048		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	28300073		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10071197, 29928386		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	38331350	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	Pubtator	25073507	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	CTD_human_DG	21489049		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	BEFREE	8655143		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27779207	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	37239355	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24548857	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	21205084		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	21489049		★☆☆☆☆ Found in Text Mining only
Cartilage-hair hypoplasia	Cartilage-Hair Hypoplasia	BEFREE	30607663		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	16315255		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	26463716		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28933484, 29734178		★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG	19097825		★☆☆☆☆ Found in Text Mining only
Complete hydatidiform mole	Complete Hydatidiform Mole	BEFREE	19542869, 20093228, 21293291, 22245958, 22992698, 23370656, 23887308, 26535984, 28463912, 28574027, 28800576, 30394942, 30952972		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30941985		★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	29471356		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	19454722	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	19239430		★☆☆☆☆ Found in Text Mining only
Epidermodysplasia Verruciformis	Epidermodysplasia Verruciformis	BEFREE	25073507		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermodysplasia Verruciformis	Epidermodysplasia verruciformis	Pubtator	25073507	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exanthema	Exanthema	Pubtator	35526384	Associate	★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	11891530		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Griscelli syndrome type 1	Griscelli syndrome	Pubtator	21169636	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	25073507	Associate	★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform Mole	BEFREE	19542869, 21293291, 22123726, 23370656, 23722513, 23887308, 24613849, 25851707, 28135560, 31567274		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole, Partial	Hydatidiform Mole	BEFREE	19542869, 19815697, 21293291, 21881485, 22123726, 22245958, 22992698, 23370656, 28574027, 30394942		★☆☆☆☆ Found in Text Mining only
HYDATIDIFORM MOLE, RECURRENT, 1	Hydatidiform Mole	BEFREE	19542869, 22123726, 25851707, 31567274		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	21844226		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29058354		★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY 8	Immunodeficiency	UNIPROT_DG	19097825, 23522482		★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY 8	Immunodeficiency	GENOMICS_ENGLAND_DG	19097825		★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY 8	Immunodeficiency	ORPHANET_DG	23522482		★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY 8	Immunodeficiency	CLINVAR_DG	25073507		★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY 8	Immunodeficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	25073507		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	26756113, 27085780		★☆☆☆☆ Found in Text Mining only
Leishmaniasis Mucocutaneous	Leishmaniasis	Pubtator	25073507	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	16184585		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	16315255		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22002319, 23842948, 26271467, 26397132, 30178471		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	20440287		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	20440287		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	20440287, 7813108		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	20440287		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	34337026	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	16741895		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	25073507	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	17026765		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	25073507, 25269405, 26476480		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10071197, 29928386		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	21205084		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	10926119, 21553350		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17196232, 20618998, 21553350, 28423699		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	26463716		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	23421998		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	29131275		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	28826362		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	19454722	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	39231316	Stimulate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	23745754	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	12732930		★☆☆☆☆ Found in Text Mining only
MUTYH-Associate Polyposis	Polyposis	BEFREE	29698503		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10955800, 22002319, 23842948, 26271467, 26756113, 27015986, 30686519, 30941985, 8640800, 8655143		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	8640800		★☆☆☆☆ Found in Text Mining only
Omenn Syndrome	Omenn Syndrome	GENOMICS_ENGLAND_DG	19097825		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30119259		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	21205084		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21205084	Associate	★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	23522482		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30941985		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	30052667		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	18836449, 19097825, 25269405, 26476480		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG	19097825		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	19097825, 25073507, 35303369	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe combined immunodeficiency due to CORO1A deficiency	Severe combined immunodeficiency disease	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Squamous cell carcinoma	Carcinoma	BEFREE	18483314		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	10926119, 21553350		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	11891530		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	11891530		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	11891530		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	21489049		★☆☆☆☆ Found in Text Mining only
X-Linked Combined Immunodeficiency Diseases	Combined Immunodeficiency, X-Linked	BEFREE	30607663		★☆☆☆☆ Found in Text Mining only