CSF2RA (colony stimulating factor 2 receptor subunit alpha)

Gene

• Entrez ID: 1438
• Gene name: Colony stimulating factor 2 receptor subunit alpha
• Gene symbol: CSF2RA
• Synonyms (NCBI Gene): CD116, CDw116, CSF2R, CSF2RAX, CSF2RAY, CSF2RX, CSF2RY, GM-CSF-R-alpha, GMCSFR, GMCSFR-alpha, GMR, GMR-alpha, SMDP4, alphaGMR
• Chromosome: X|Y
• Chromosome location: X;Y
• Summary: The protein encoded by this gene is the alpha subunit of the heterodimeric receptor for colony stimulating factor 2, a cytokine which controls the production, differentiation, and function of granulocytes and macrophages. The encoded protein is a member o

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852353	G>A,C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs140664183	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, synonymous variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT911711	hsa-miR-3620	CLIP-seq
MIRT911712	hsa-miR-526b	CLIP-seq
MIRT911713	hsa-miR-578	CLIP-seq
MIRT911714	hsa-miR-106a	CLIP-seq
MIRT911715	hsa-miR-106b	CLIP-seq
MIRT911716	hsa-miR-150	CLIP-seq
MIRT911717	hsa-miR-17	CLIP-seq
MIRT911718	hsa-miR-1976	CLIP-seq
MIRT911719	hsa-miR-20a	CLIP-seq
MIRT911720	hsa-miR-20b	CLIP-seq
MIRT911721	hsa-miR-302a	CLIP-seq
MIRT911722	hsa-miR-302b	CLIP-seq
MIRT911723	hsa-miR-302c	CLIP-seq
MIRT911724	hsa-miR-302d	CLIP-seq
MIRT911725	hsa-miR-302e	CLIP-seq
MIRT911726	hsa-miR-372	CLIP-seq
MIRT911727	hsa-miR-373	CLIP-seq
MIRT911728	hsa-miR-4279	CLIP-seq
MIRT911729	hsa-miR-4312	CLIP-seq
MIRT911730	hsa-miR-4438	CLIP-seq
MIRT911731	hsa-miR-4454	CLIP-seq
MIRT911732	hsa-miR-4722-3p	CLIP-seq
MIRT911733	hsa-miR-4731-5p	CLIP-seq
MIRT911734	hsa-miR-4757-5p	CLIP-seq
MIRT911735	hsa-miR-4763-5p	CLIP-seq
MIRT911736	hsa-miR-4795-3p	CLIP-seq
MIRT911737	hsa-miR-498	CLIP-seq
MIRT911738	hsa-miR-5095	CLIP-seq
MIRT911739	hsa-miR-512-3p	CLIP-seq
MIRT911740	hsa-miR-519d	CLIP-seq
MIRT911741	hsa-miR-520a-3p	CLIP-seq
MIRT911742	hsa-miR-520b	CLIP-seq
MIRT911743	hsa-miR-520c-3p	CLIP-seq
MIRT911744	hsa-miR-520d-3p	CLIP-seq
MIRT911745	hsa-miR-520e	CLIP-seq
MIRT911746	hsa-miR-520g	CLIP-seq
MIRT911747	hsa-miR-520h	CLIP-seq
MIRT911748	hsa-miR-562	CLIP-seq
MIRT911749	hsa-miR-93	CLIP-seq
MIRT1970292	hsa-miR-24	CLIP-seq
MIRT1970293	hsa-miR-4284	CLIP-seq
MIRT1970294	hsa-miR-4466	CLIP-seq
MIRT1970295	hsa-miR-675	CLIP-seq
MIRT911714	hsa-miR-106a	CLIP-seq
MIRT911715	hsa-miR-106b	CLIP-seq
MIRT911716	hsa-miR-150	CLIP-seq
MIRT911717	hsa-miR-17	CLIP-seq
MIRT911718	hsa-miR-1976	CLIP-seq
MIRT911719	hsa-miR-20a	CLIP-seq
MIRT911720	hsa-miR-20b	CLIP-seq
MIRT911721	hsa-miR-302a	CLIP-seq
MIRT911722	hsa-miR-302b	CLIP-seq
MIRT911723	hsa-miR-302c	CLIP-seq
MIRT911724	hsa-miR-302d	CLIP-seq
MIRT911725	hsa-miR-302e	CLIP-seq
MIRT911726	hsa-miR-372	CLIP-seq
MIRT911727	hsa-miR-373	CLIP-seq
MIRT911728	hsa-miR-4279	CLIP-seq
MIRT911729	hsa-miR-4312	CLIP-seq
MIRT911732	hsa-miR-4722-3p	CLIP-seq
MIRT911734	hsa-miR-4757-5p	CLIP-seq
MIRT911735	hsa-miR-4763-5p	CLIP-seq
MIRT911737	hsa-miR-498	CLIP-seq
MIRT911739	hsa-miR-512-3p	CLIP-seq
MIRT911740	hsa-miR-519d	CLIP-seq
MIRT911741	hsa-miR-520a-3p	CLIP-seq
MIRT911742	hsa-miR-520b	CLIP-seq
MIRT911743	hsa-miR-520c-3p	CLIP-seq
MIRT911744	hsa-miR-520d-3p	CLIP-seq
MIRT911745	hsa-miR-520e	CLIP-seq
MIRT911746	hsa-miR-520g	CLIP-seq
MIRT911747	hsa-miR-520h	CLIP-seq
MIRT911748	hsa-miR-562	CLIP-seq
MIRT911749	hsa-miR-93	CLIP-seq
MIRT911714	hsa-miR-106a	CLIP-seq
MIRT911715	hsa-miR-106b	CLIP-seq
MIRT2509454	hsa-miR-125a-3p	CLIP-seq
MIRT911716	hsa-miR-150	CLIP-seq
MIRT911717	hsa-miR-17	CLIP-seq
MIRT911719	hsa-miR-20a	CLIP-seq
MIRT911720	hsa-miR-20b	CLIP-seq
MIRT2509455	hsa-miR-3934	CLIP-seq
MIRT911729	hsa-miR-4312	CLIP-seq
MIRT911731	hsa-miR-4454	CLIP-seq
MIRT911734	hsa-miR-4757-5p	CLIP-seq
MIRT911735	hsa-miR-4763-5p	CLIP-seq
MIRT911740	hsa-miR-519d	CLIP-seq
MIRT911746	hsa-miR-520g	CLIP-seq
MIRT911747	hsa-miR-520h	CLIP-seq
MIRT2509456	hsa-miR-764	CLIP-seq
MIRT911749	hsa-miR-93	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CEBPA	Unknown	7565736
SPI1	Unknown	7565736

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004896	Function	Cytokine receptor activity	IEA
GO:0004903	Function	Growth hormone receptor activity	IBA
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005576	Component	Extracellular region	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	1702217
GO:0005886	Component	Plasma membrane	TAS	2555171
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IDA	18692472
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0009897	Component	External side of plasma membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0017046	Function	Peptide hormone binding	IBA
GO:0019221	Process	Cytokine-mediated signaling pathway	IBA
GO:0019955	Function	Cytokine binding	IBA
GO:0030526	Component	Granulocyte macrophage colony-stimulating factor receptor complex	IDA	27396825
GO:0038023	Function	Signaling receptor activity	TAS	1358805
GO:0038157	Process	Granulocyte-macrophage colony-stimulating factor signaling pathway	IDA	18692472
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IBA
GO:0060396	Process	Growth hormone receptor signaling pathway	IBA
GO:0070195	Component	Growth hormone receptor complex	IBA
GO:0070665	Process	Positive regulation of leukocyte proliferation	IDA	18692472

Other IDs

• MIM: 306250
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: P15509
• Protein name: Granulocyte-macrophage colony-stimulating factor receptor subunit alpha (GM-CSF-R-alpha) (GMCSFR-alpha) (GMR-alpha) (CDw116) (CD antigen CD116)
• Protein function: Low affinity receptor for granulocyte-macrophage colony-stimulating factor. Transduces a signal that results in the proliferation, differentiation, and functional activation of hematopoietic cells.
• PDB: 4NKQ, 4RS1
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF18611	IL3Ra_N	35 → 112	IL-3 receptor alpha chain N-terminal domain	Domain
  PF09240	IL6Ra-bind	123 → 215	Interleukin-6 receptor alpha chain, binding	Domain

• Sequence:

  MLLLVTSLLLCELPHPAFLLIPEKSDLRTVAPASSLNVRFDSRTMNLSWDCQENTTFSKC
  FLTDKKNRVVEPRLSNNECSCTFREICLHEGVTFEVHVNTSQRGFQQKLLYPNSGREGTA
  AQNFSCFIYNADLMNCTWARGPTAPRDVQYFLYIRNSKRRREIRCPYYIQDSGTHVGCHL
  DNLSGLTSRNYFLVNGTSREIGIQFFDSLLDTKKIERFNPPSNVTVRCNTTHCLVRWKQP
  RTYQKLSYLDFQYQLDVHRKNTQPGTENLLINVSGDLENRYNFPSSEPRAKHSVKIRAAD
  VRILNWSSWSEAIEFGSDDGNLGSVYIYVLLIVGTLVCGIVLGFLFKRFLRIQRLFPPVP
  QIKDKLNDNHEVEDEIIWEEFTPEEGKGYREEVLTVKEIT

• Sequence length: 400

Pathways

KEGG:

Cytokine-cytokine receptor interaction
JAK-STAT signaling pathway
Hematopoietic cell lineage
Pathways in cancer

Reactome:

Interleukin-3, Interleukin-5 and GM-CSF signaling
RAF/MAP kinase cascade
Surfactant metabolism
Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
Interleukin receptor SHC signaling

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
CSF2RA-related disorder	Likely pathogenic; Pathogenic	rs2148504379, rs149151916	RCV004752118 RCV003394301	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Surfactant metabolism dysfunction, pulmonary, 4	Pathogenic; Likely pathogenic	rs756203389, rs2148312047, rs2148417003, rs2148504379, rs149151916, rs2092302661, rs2091060104, rs753455319, rs1196937077, rs142796603, rs2522384987, rs137852353, rs750023118, rs2521947117, rs2522387231, rs1414104515, rs2522752773, rs2091055139, rs1395037247, rs2091299213	RCV001388457 RCV001382275 RCV001388704 RCV001970797 RCV001934649 RCV001982285 RCV002035251 RCV002249845 RCV002249846 RCV002611923 RCV002685690 RCV002731000 RCV002923619 RCV003009901 RCV000011068 RCV003621841 RCV003622520 RCV003622684 RCV001041175 RCV001062354 RCV001050755	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs2148504379	RCV005925429	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY ALVEOLAR PROTEINOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SURFACTANT DYSFUNCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	27209355		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	21557945	Inhibit	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	19213775	Stimulate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	9155834		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31635541	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	9845545	Inhibit	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	22365286	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	36883059	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	24836891		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	21557945	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29516317	Associate	★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital contractural arachnodactyly	Pubtator	36883059	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	21557945, 30124884		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	21557945	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31652101		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31652101		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	8950669		★☆☆☆☆ Found in Text Mining only
Dystonia 3, Torsion, X-Linked	Dystonia	BEFREE	8338342		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34404444	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	8950669	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary pulmonary alveolar proteinosis	Hereditary Pulmonary Alveolar Proteinosis	Orphanet			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	21557945		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	21557945	Inhibit	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	21557945		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	21557945	Inhibit	★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	25102944, 26983639		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	16480924	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	21056082, 8695795	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	21056082	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Chronic	Myelomonocytic leukemia	Pubtator	39298477	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Juvenile	Myelomonocytic leukemia	Pubtator	26983639	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	19036083		★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	25425184	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	25425184		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	11129324	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31635541	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	7849318	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	Pubtator	7530506, 9734660	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	29290406	Stimulate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	11122148, 15668954	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27209355, 27389055, 31635541		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	27209355		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	31228652		★☆☆☆☆ Found in Text Mining only
Pulmonary Alveolar Proteinosis	Alveolar proteinosis	LHGDN	18955567		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Alveolar Proteinosis	Alveolar proteinosis	BEFREE	18955570, 20622029, 20623372, 21075760, 23918747, 24279752, 25425184, 28212655, 29517585, 30846703, 31002528		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Alveolar Proteinosis	Pulmonary alveolar proteinosis	Pubtator	20622029, 24279752, 25425184, 28212655, 28233860, 28464852	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Alveolar Proteinosis	Alveolar proteinosis	GENOMICS_ENGLAND_DG	23632888, 25425184		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Alveolar Proteinosis	Alveolar proteinosis	CTD_human_DG	29484482		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Alveolar Proteinosis	Alveolar proteinosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Alveolar Proteinosis Acquired	Pulmonary alveolar proteinosis	Pubtator	20622029	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary alveolar proteinosis congenital	Pulmonary alveolar proteinosis	Pubtator	28464852	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary alveolar proteinosis, congenital	Congenital pulmonary alveolar proteinosis	ORPHANET_DG	18955570		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary alveolar proteinosis, congenital	Congenital pulmonary alveolar proteinosis	GENOMICS_ENGLAND_DG	23632888		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary alveolar proteinosis, congenital	Congenital pulmonary alveolar proteinosis	BEFREE	23918747		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal Insufficiency	Renal Insufficiency	BEFREE	28365033		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	7945472		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	19036083		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	17522711, 18547720, 19281803, 20457675		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	17522711		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	17522711, 20457675		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Surfactant Metabolism Dysfunction Pulmonary 1	Pulmonary surfactant metabolism dysfunction	Pubtator	23206404, 24279752, 28212655, 28233860, 29123113	Associate	★☆☆☆☆ Found in Text Mining only
Surfactant Metabolism Dysfunction, Pulmonary, 4	Surfactant Metabolism Dysfunction, Pulmonary	UNIPROT_DG	18955567, 18955570		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Surfactant Metabolism Dysfunction, Pulmonary, 4	Surfactant Metabolism Dysfunction, Pulmonary	GENOMICS_ENGLAND_DG	23632888, 25425184		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Surfactant Metabolism Dysfunction, Pulmonary, 4	Surfactant Metabolism Dysfunction, Pulmonary	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Surfactant Metabolism Dysfunction, Pulmonary, 4	Surfactant Metabolism Dysfunction, Pulmonary	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Teratoma	Teratoma	BEFREE	24279752		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner syndrome	Pubtator	32210915, 36733527, 8950669	Associate	★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	8950669		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	26257474	Associate	★☆☆☆☆ Found in Text Mining only