PDGFA (platelet derived growth factor subunit A)

Gene

• Entrez ID: 5154
• Gene name: Platelet derived growth factor subunit A
• Gene symbol: PDGFA
• Synonyms (NCBI Gene): PDGF-A, PDGF1
• Chromosome: 7
• Chromosome location: 7p22.3
• Summary: This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor sub

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005549	hsa-let-7d-5p	ELISA, Immunoblot, Microarray, qRT-PCR	21266476
MIRT053724	hsa-miR-221-3p	Microarray	22942087
MIRT438915	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR	23354167
MIRT438915	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR	23354167
MIRT622855	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT622854	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT622853	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT655311	hsa-miR-203a-5p	HITS-CLIP	23824327
MIRT655310	hsa-miR-1273g-5p	HITS-CLIP	23824327
MIRT622852	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT622851	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT622850	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT622849	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT622848	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT622847	hsa-miR-514a-3p	HITS-CLIP	23824327
MIRT622846	hsa-miR-514b-3p	HITS-CLIP	23824327
MIRT622855	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT622854	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT622853	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT622852	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT622851	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT622850	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT622849	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT622848	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT622847	hsa-miR-514a-3p	HITS-CLIP	23824327
MIRT622846	hsa-miR-514b-3p	HITS-CLIP	23824327
MIRT732495	hsa-miR-29a-5p	Western blotting, Immunocytochemistry (ICC), Luciferase reporter assay, qRT-PCR	31482267
MIRT053724	hsa-miR-221-3p	Luciferase reporter assay, Western blotting, Microarray, qRT-PCR	32898999
MIRT622855	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT622854	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT622853	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT655311	hsa-miR-203a-5p	HITS-CLIP	23824327
MIRT655310	hsa-miR-1273g-5p	HITS-CLIP	23824327
MIRT622852	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT622851	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT622850	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT622849	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT622848	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT622847	hsa-miR-514a-3p	HITS-CLIP	23824327
MIRT622846	hsa-miR-514b-3p	HITS-CLIP	23824327
MIRT622855	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT622854	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT622853	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT622852	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT622851	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT622850	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT622849	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT622848	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT622847	hsa-miR-514a-3p	HITS-CLIP	23824327
MIRT622846	hsa-miR-514b-3p	HITS-CLIP	23824327
MIRT1221132	hsa-miR-1266	CLIP-seq
MIRT1221133	hsa-miR-1273g	CLIP-seq
MIRT1221134	hsa-miR-141	CLIP-seq
MIRT1221135	hsa-miR-151-5p	CLIP-seq
MIRT1221136	hsa-miR-151b	CLIP-seq
MIRT1221137	hsa-miR-200a	CLIP-seq
MIRT1221138	hsa-miR-2467-3p	CLIP-seq
MIRT1221139	hsa-miR-3613-3p	CLIP-seq
MIRT1221140	hsa-miR-3664-3p	CLIP-seq
MIRT1221141	hsa-miR-3686	CLIP-seq
MIRT1221142	hsa-miR-3687	CLIP-seq
MIRT1221143	hsa-miR-3689d	CLIP-seq
MIRT1221144	hsa-miR-4263	CLIP-seq
MIRT1221145	hsa-miR-4419a	CLIP-seq
MIRT1221146	hsa-miR-4442	CLIP-seq
MIRT1221147	hsa-miR-4476	CLIP-seq
MIRT1221148	hsa-miR-4509	CLIP-seq
MIRT1221149	hsa-miR-4510	CLIP-seq
MIRT1221150	hsa-miR-4518	CLIP-seq
MIRT1221151	hsa-miR-4652-3p	CLIP-seq
MIRT1221152	hsa-miR-4742-3p	CLIP-seq
MIRT1221153	hsa-miR-4744	CLIP-seq
MIRT1221154	hsa-miR-4799-5p	CLIP-seq
MIRT1221155	hsa-miR-561	CLIP-seq
MIRT1221156	hsa-miR-576-5p	CLIP-seq
MIRT1221157	hsa-miR-873	CLIP-seq
MIRT1221158	hsa-miR-885-3p	CLIP-seq
MIRT1221159	hsa-miR-922	CLIP-seq
MIRT1221133	hsa-miR-1273g	CLIP-seq
MIRT2063810	hsa-miR-4475	CLIP-seq
MIRT2063811	hsa-miR-4496	CLIP-seq
MIRT2063812	hsa-miR-494	CLIP-seq
MIRT2063813	hsa-miR-651	CLIP-seq
MIRT2292268	hsa-miR-135a	CLIP-seq
MIRT2292269	hsa-miR-135b	CLIP-seq
MIRT2292270	hsa-miR-221	CLIP-seq
MIRT2292271	hsa-miR-222	CLIP-seq
MIRT2292272	hsa-miR-2964a-5p	CLIP-seq
MIRT2292273	hsa-miR-3120-3p	CLIP-seq
MIRT2292274	hsa-miR-3150b-3p	CLIP-seq
MIRT2292275	hsa-miR-3152-3p	CLIP-seq
MIRT2292276	hsa-miR-326	CLIP-seq
MIRT2292277	hsa-miR-330-5p	CLIP-seq
MIRT2292278	hsa-miR-338-5p	CLIP-seq
MIRT2292279	hsa-miR-34b	CLIP-seq
MIRT2292280	hsa-miR-3660	CLIP-seq
MIRT2292281	hsa-miR-3665	CLIP-seq
MIRT2292282	hsa-miR-3977	CLIP-seq
MIRT2292283	hsa-miR-412	CLIP-seq
MIRT2292284	hsa-miR-4526	CLIP-seq
MIRT2292285	hsa-miR-4645-3p	CLIP-seq
MIRT1221151	hsa-miR-4652-3p	CLIP-seq
MIRT2292286	hsa-miR-4667-5p	CLIP-seq
MIRT2292287	hsa-miR-4685-5p	CLIP-seq
MIRT2292288	hsa-miR-4698	CLIP-seq
MIRT2292289	hsa-miR-4700-5p	CLIP-seq
MIRT2292290	hsa-miR-4733-3p	CLIP-seq
MIRT2292291	hsa-miR-4736	CLIP-seq
MIRT2292292	hsa-miR-4784	CLIP-seq
MIRT2292293	hsa-miR-486-3p	CLIP-seq
MIRT2292294	hsa-miR-509-3p	CLIP-seq
MIRT2292295	hsa-miR-5096	CLIP-seq
MIRT2292296	hsa-miR-548v	CLIP-seq
MIRT2292297	hsa-miR-550b	CLIP-seq
MIRT2292298	hsa-miR-584	CLIP-seq
MIRT2292299	hsa-miR-607	CLIP-seq
MIRT2292300	hsa-miR-637	CLIP-seq
MIRT2292301	hsa-miR-760	CLIP-seq
MIRT2292302	hsa-miR-764	CLIP-seq
MIRT2292303	hsa-miR-765	CLIP-seq
MIRT2292304	hsa-miR-935	CLIP-seq
MIRT2392300	hsa-miR-1179	CLIP-seq
MIRT2392301	hsa-miR-1322	CLIP-seq
MIRT2392302	hsa-miR-153	CLIP-seq
MIRT2392303	hsa-miR-196a	CLIP-seq
MIRT2392304	hsa-miR-196b	CLIP-seq
MIRT2392305	hsa-miR-331-5p	CLIP-seq
MIRT2392306	hsa-miR-3927	CLIP-seq
MIRT2392307	hsa-miR-4310	CLIP-seq
MIRT2392308	hsa-miR-4678	CLIP-seq
MIRT2392309	hsa-miR-4706	CLIP-seq
MIRT2392310	hsa-miR-4734	CLIP-seq
MIRT2392311	hsa-miR-4749-5p	CLIP-seq
MIRT2392312	hsa-miR-744	CLIP-seq
MIRT1221139	hsa-miR-3613-3p	CLIP-seq
MIRT2392300	hsa-miR-1179	CLIP-seq
MIRT2590044	hsa-miR-1292	CLIP-seq
MIRT2590045	hsa-miR-1324	CLIP-seq
MIRT2292273	hsa-miR-3120-3p	CLIP-seq
MIRT2292275	hsa-miR-3152-3p	CLIP-seq
MIRT2590046	hsa-miR-3157-5p	CLIP-seq
MIRT2292276	hsa-miR-326	CLIP-seq
MIRT2292277	hsa-miR-330-5p	CLIP-seq
MIRT2590047	hsa-miR-3648	CLIP-seq
MIRT2292281	hsa-miR-3665	CLIP-seq
MIRT2590048	hsa-miR-382	CLIP-seq
MIRT2392307	hsa-miR-4310	CLIP-seq
MIRT2590049	hsa-miR-4471	CLIP-seq
MIRT2292285	hsa-miR-4645-3p	CLIP-seq
MIRT2292286	hsa-miR-4667-5p	CLIP-seq
MIRT2292287	hsa-miR-4685-5p	CLIP-seq
MIRT2590050	hsa-miR-4691-3p	CLIP-seq
MIRT2292289	hsa-miR-4700-5p	CLIP-seq
MIRT2392309	hsa-miR-4706	CLIP-seq
MIRT2292290	hsa-miR-4733-3p	CLIP-seq
MIRT2392310	hsa-miR-4734	CLIP-seq
MIRT2292291	hsa-miR-4736	CLIP-seq
MIRT2392311	hsa-miR-4749-5p	CLIP-seq
MIRT2292293	hsa-miR-486-3p	CLIP-seq
MIRT2590051	hsa-miR-512-5p	CLIP-seq
MIRT2292300	hsa-miR-637	CLIP-seq
MIRT2590052	hsa-miR-668	CLIP-seq
MIRT2392312	hsa-miR-744	CLIP-seq
MIRT2292301	hsa-miR-760	CLIP-seq
MIRT2292302	hsa-miR-764	CLIP-seq
MIRT2292304	hsa-miR-935	CLIP-seq
MIRT2392300	hsa-miR-1179	CLIP-seq
MIRT2590044	hsa-miR-1292	CLIP-seq
MIRT2590045	hsa-miR-1324	CLIP-seq
MIRT2292273	hsa-miR-3120-3p	CLIP-seq
MIRT2292275	hsa-miR-3152-3p	CLIP-seq
MIRT2590046	hsa-miR-3157-5p	CLIP-seq
MIRT2292276	hsa-miR-326	CLIP-seq
MIRT2292277	hsa-miR-330-5p	CLIP-seq
MIRT2590047	hsa-miR-3648	CLIP-seq
MIRT2292281	hsa-miR-3665	CLIP-seq
MIRT2590048	hsa-miR-382	CLIP-seq
MIRT2392307	hsa-miR-4310	CLIP-seq
MIRT2590049	hsa-miR-4471	CLIP-seq
MIRT2292285	hsa-miR-4645-3p	CLIP-seq
MIRT2292286	hsa-miR-4667-5p	CLIP-seq
MIRT2292287	hsa-miR-4685-5p	CLIP-seq
MIRT2590050	hsa-miR-4691-3p	CLIP-seq
MIRT2292289	hsa-miR-4700-5p	CLIP-seq
MIRT2392309	hsa-miR-4706	CLIP-seq
MIRT2292290	hsa-miR-4733-3p	CLIP-seq
MIRT2392310	hsa-miR-4734	CLIP-seq
MIRT2292291	hsa-miR-4736	CLIP-seq
MIRT2392311	hsa-miR-4749-5p	CLIP-seq
MIRT2292293	hsa-miR-486-3p	CLIP-seq
MIRT2590051	hsa-miR-512-5p	CLIP-seq
MIRT2292300	hsa-miR-637	CLIP-seq
MIRT2590052	hsa-miR-668	CLIP-seq
MIRT2392312	hsa-miR-744	CLIP-seq
MIRT2292301	hsa-miR-760	CLIP-seq
MIRT2292302	hsa-miR-764	CLIP-seq
MIRT2292304	hsa-miR-935	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
FOXF2	Repression	19562724
FOXO1	Unknown	19244250
HOXB7	Activation	21183939
WT1	Repression	1429549;7535092
WT1	Unknown	8415628

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0001525	Process	Angiogenesis	IBA
GO:0001525	Process	Angiogenesis	IEA
GO:0001525	Process	Angiogenesis	ISS
GO:0001775	Process	Cell activation	TAS	10508235
GO:0001942	Process	Hair follicle development	IEA
GO:0001942	Process	Hair follicle development	ISS
GO:0002053	Process	Positive regulation of mesenchymal cell proliferation	IEA
GO:0002053	Process	Positive regulation of mesenchymal cell proliferation	ISS
GO:0005161	Function	Platelet-derived growth factor receptor binding	IBA
GO:0005161	Function	Platelet-derived growth factor receptor binding	IDA	2439522, 2836953
GO:0005161	Function	Platelet-derived growth factor receptor binding	IPI	2536956
GO:0005515	Function	Protein binding	IPI	7679113, 25241761, 32296183
GO:0005518	Function	Collagen binding	IDA	8900172
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	3754619
GO:0005615	Component	Extracellular space	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005796	Component	Golgi lumen	TAS
GO:0005902	Component	Microvillus	IEA
GO:0005902	Component	Microvillus	ISS
GO:0007267	Process	Cell-cell signaling	TAS	2842868
GO:0008083	Function	Growth factor activity	IDA	12070119
GO:0008083	Function	Growth factor activity	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	16462734
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	2439522, 2836953, 7073684, 10806482, 17470632
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0009611	Process	Response to wounding	IDA	2538439
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0009887	Process	Animal organ morphogenesis	ISS
GO:0009986	Component	Cell surface	IDA	291037, 2538439, 2836953
GO:0010512	Process	Negative regulation of phosphatidylinositol biosynthetic process	IDA	2538439
GO:0010544	Process	Negative regulation of platelet activation	IDA	2538439
GO:0014910	Process	Regulation of smooth muscle cell migration	IDA	9409235
GO:0016020	Component	Membrane	IEA
GO:0030031	Process	Cell projection assembly	IEA
GO:0030031	Process	Cell projection assembly	ISS
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030036	Process	Actin cytoskeleton organization	ISS
GO:0030335	Process	Positive regulation of cell migration	IBA
GO:0030335	Process	Positive regulation of cell migration	IDA	11788434, 17470632
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0031954	Process	Positive regulation of protein autophosphorylation	IDA	12070119
GO:0032956	Process	Regulation of actin cytoskeleton organization	TAS	10508235
GO:0035790	Process	Platelet-derived growth factor receptor-alpha signaling pathway	NAS	7679113, 11297552
GO:0035793	Process	Positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway	IDA	19019919
GO:0042060	Process	Wound healing	TAS	10508235
GO:0042802	Function	Identical protein binding	IPI	20534510
GO:0042803	Function	Protein homodimerization activity	IDA	2836953, 3754619
GO:0043410	Process	Positive regulation of MAPK cascade	IMP	11788434
GO:0043588	Process	Skin development	IEA
GO:0043588	Process	Skin development	ISS
GO:0046982	Function	Protein heterodimerization activity	IPI	7073684
GO:0048008	Process	Platelet-derived growth factor receptor signaling pathway	IBA
GO:0048008	Process	Platelet-derived growth factor receptor signaling pathway	IDA	2439522, 2536956, 2836953
GO:0048008	Process	Platelet-derived growth factor receptor signaling pathway	NAS	7679113
GO:0048018	Function	Receptor ligand activity	IEA
GO:0048146	Process	Positive regulation of fibroblast proliferation	IDA	2439522, 10806482
GO:0048286	Process	Lung alveolus development	IEA
GO:0048286	Process	Lung alveolus development	ISS
GO:0048407	Function	Platelet-derived growth factor binding	IPI	7073684
GO:0048565	Process	Digestive tract development	IEA
GO:0050919	Process	Negative chemotaxis	IDA	9409235
GO:0051781	Process	Positive regulation of cell division	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	11788434, 19019919
GO:0060348	Process	Bone development	IEA
GO:0060683	Process	Regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling	IEA
GO:0060683	Process	Regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling	ISS
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IBA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	11788434
GO:0072124	Process	Regulation of glomerular mesangial cell proliferation	IDA	11788434
GO:1990265	Component	Platelet-derived growth factor complex	IPI	7679113
GO:1990270	Component	Platelet-derived growth factor receptor-ligand complex	IPI	11297552
GO:1990401	Process	Embryonic lung development	IEA
GO:1990401	Process	Embryonic lung development	ISS
GO:2000278	Process	Regulation of DNA biosynthetic process	IDA	11788434, 19019919

Other IDs

• MIM: 173430
• HGNC: 8799
• e!Ensembl: ENSG00000197461

Protein

• UniProt ID: P04085
• Protein name: Platelet-derived growth factor subunit A (PDGF subunit A) (PDGF-1) (Platelet-derived growth factor A chain) (Platelet-derived growth factor alpha polypeptide)
• Protein function: Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen for cells of mesenchymal origin. Required for normal lung alveolar septum formatio
• PDB: 3MJK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04692	PDGF_N	21 → 95	Platelet-derived growth factor, N terminal region	Family
  PF00341	PDGF	96 → 179	PDGF/VEGF domain	Domain

• Sequence:

  MRTLACLLLLGCGYLAHVLAEEAEIPREVIERLARSQIHSIRDLQRLLEIDSVGSEDSLD
  TSLRAHGVHATKHVPEKRPLPIRRKRSIEEAVPAVCKTRTVIYEIPRSQVDPTSANFLIW
  PPCVEVKRCTGCCNTSSVKCQPSRVHHRSVKVAKVEYVRKKPKLKEVQVRLEEHLECACA
  TTSLNPDYREEDTGRPRESGKKRKRKRLKPT

• Sequence length: 211

Pathways

KEGG:

EGFR tyrosine kinase inhibitor resistance
MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
Calcium signaling pathway
Phospholipase D signaling pathway
PI3K-Akt signaling pathway
Focal adhesion
Gap junction
JAK-STAT signaling pathway
Regulation of actin cytoskeleton
Pathways in cancer
Transcriptional misregulation in cancer
MicroRNAs in cancer
Glioma
Prostate cancer
Melanoma
Choline metabolism in cancer
Fluid shear stress and atherosclerosis

Reactome:

Platelet degranulation
PIP3 activates AKT signaling
Downstream signal transduction
Signaling by PDGF
Constitutive Signaling by Aberrant PI3K in Cancer
Non-integrin membrane-ECM interactions
RAF/MAP kinase cascade
PI5P, PP2A and IER3 Regulate PI3K/AKT 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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASES, ENDOCRINE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Delayed gross motor development	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROSS MOTOR DEVELOPMENT DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHAGIC STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatic fibrosis	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOTOR NEURON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY FIBROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Splenomegaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOCYTHEMIA, ESSENTIAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	LHGDN	18084257		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	18592007, 7665222		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	17785554		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	GWASCAT_DG	28196072		★☆☆☆☆ Found in Text Mining only
Alveolitis, Fibrosing	Alveolitis	CTD_human_DG	16324872		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	LHGDN	18284546		★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	CTD_human_DG	11796754		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	CTD_human_DG	11796754		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	CTD_human_DG	11796754		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	12376462, 16316942		★☆☆☆☆ Found in Text Mining only
Anaplastic Ependymoma	Anaplastic Ependymoma	BEFREE	1997889		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	29439675	Stimulate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	35563123	Stimulate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	15956925, 29439675		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	11342471, 12629513		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	11678848		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	1317261, 2164040		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	2164040	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	12629513		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	8579107	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	26774166	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	BEFREE	27010479		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	32662506, 40665430	Associate	★☆☆☆☆ Found in Text Mining only
Binge Drinking	Binge drinking	Pubtator	30038270	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases, Endocrine	Bone Disease	CTD_human_DG	18635661		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	16298037		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25869208		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	39302921	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	CTD_human_DG	12376462, 16316942		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	34104083	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23684136	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	18084259, 18408656	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15829977		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	36047966	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	37746966	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	8120413		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	12376462, 16316942		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	21492330	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	22733151	Stimulate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	31809267		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	31809267	Associate	★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	17549375	Associate	★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	15829977		★☆☆☆☆ Found in Text Mining only
Chronic lung disease	Lung Diseases	BEFREE	17293375		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30929921		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29342159, 30987352	Associate	★☆☆☆☆ Found in Text Mining only
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	27010479		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	21777692, 22733151		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	10954201		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	10954201		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	10954201		★☆☆☆☆ Found in Text Mining only
Denys Drash Syndrome	Denys drash syndrome	Pubtator	10586431	Associate	★☆☆☆☆ Found in Text Mining only
Denys-Drash Syndrome	Denys-Drash Syndrome	BEFREE	10586431		★☆☆☆☆ Found in Text Mining only
Desmoplastic Small Round Cell Tumor	Desmoplastic Tumor	BEFREE	15389255		★☆☆☆☆ Found in Text Mining only
Desmoplastic Small Round Cell Tumor	Desmoplastic small round cell tumor	Pubtator	15389255	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	29728363	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	12808179, 15067514		★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	27104832	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	LHGDN	17578349		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	21777692		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	36588538	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	34011067	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	29728363	Associate	★☆☆☆☆ Found in Text Mining only
Fibromatosis, Aggressive	Fibromatosis	BEFREE	17785554		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	18598744		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	1317261, 2845420, 31482267		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	27002148, 34987659, 35105853	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	2845420, 31482267		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	14997209		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	1653246, 2016070, 21996738, 25117714, 29575648, 29719265, 31300060		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	1653246, 19707201, 27002148, 31300060, 31428092	Associate	★☆☆☆☆ Found in Text Mining only
gliosarcoma	Gliosarcoma	BEFREE	16373964		★☆☆☆☆ Found in Text Mining only
Gliosarcoma	Gliosarcoma	Pubtator	16373964	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	8995734	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart Failure Diastolic	Heart failure	Pubtator	36184749	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Veno Occlusive Disease	Hepatic veno occlusive disease	Pubtator	21330458	Associate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	Pubtator	29728363	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	9596101	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	2315311	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	26800359, 35799115	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27104832	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	9596101		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	21309737	Inhibit	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	2347924	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	27104832, 8520779		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	27104832	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	9596101		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	9176853		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	29728363	Associate	★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	2153568		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	10586431	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma Myxoid	Liposarcoma	Pubtator	33524869	Inhibit	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23684136, 25333264		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	32662506, 35168183, 40665430	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	CTD_human_DG	20920717		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Diseases, Interstitial	Lung Diseases	BEFREE	8520779		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	19628565	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32235327, 9242335	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	16850112		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	1396665, 7664867		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	16298037		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25869208		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	2844850		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	18592007		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12629513, 15829977, 1651380, 19707201, 3290807		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	22331697		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	16298037		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	16298037		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	2669069, 8619189		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	16298037		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	2056188	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	7927908, 8344381		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	8057146		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	18084259		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	CTD_human_DG	11415934		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma	Mesothelioma	BEFREE	3479241		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma Malignant	Mesothelioma	Pubtator	1396665	Associate	★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorder Chronic with Eosinophilia	Myeloproliferative disorder	Pubtator	8995734	Stimulate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	10954201		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10815914, 12670890, 1332065, 1396665, 15389255, 16849546, 1997889, 24480986, 25089899, 2842041, 2845420, 3754619, 7664867, 8427711, 8619189		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	1332065, 2444606		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	8376577		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	8376577	Associate	★☆☆☆☆ Found in Text Mining only
neurofibroma	Neurofibroma	BEFREE	16357008		★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	16357008		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	9482185		★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	21052871	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	LHGDN	18814141		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	2016070, 8042973		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36758419	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	18592007		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	18592007		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	18592007	Associate	★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	22366961		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25767870	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	27104832		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	CTD_human_DG	16324872		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29923060		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal carcinoma	Renal Carcinoma	BEFREE	8348984		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	18808740		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	8348984		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	10586431		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	8174086		★☆☆☆☆ Found in Text Mining only
Salivary Gland Pleomorphic Adenoma	Pleomorphic adenoma of salivary gland	BEFREE	22174424		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	8520779		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	3165051		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	33524869	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	1323124	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Synovial	Synovial sarcoma	Pubtator	33524869	Stimulate	★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	18784131		★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	29342159		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	23625689, 39375732	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	16103054		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	9527059		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	2557315, 9527059	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	10225968, 18784131		★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	1829952	Associate	★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	23897578		★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	15682418	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	CTD_human_DG	15682418		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytosis, Autosomal Dominant	Thrombocytosis	CTD_human_DG	15682418		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	CTD_human_DG	26037280		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	CTD_human_DG	26037280		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	CTD_human_DG	26037280		★☆☆☆☆ Found in Text Mining only
Tooth Abnormalities	Tooth abnormalities	Pubtator	39519162	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	34104083	Associate	★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	12376462, 16316942		★☆☆☆☆ Found in Text Mining only
Vasculitis Central Nervous System	Vasculitis	Pubtator	31474980	Associate	★☆☆☆☆ Found in Text Mining only
Vitreoretinopathy Proliferative	Vitreoretinopathy	Pubtator	19032953	Associate	★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	9482185		★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	1429549, 7564071	Associate	★☆☆☆☆ Found in Text Mining only