PDGFB (platelet derived growth factor subunit B)

Gene

• Entrez ID: 5155
• Gene name: Platelet derived growth factor subunit B
• Gene symbol: PDGFB
• Synonyms (NCBI Gene): IBGC5, PDGF-2, PDGF2, SIS, SSV, c-sis
• Chromosome: 22
• Chromosome location: 22q13.1
• 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs397515631	G>A	Pathogenic	Stop gained, coding sequence variant
rs397515632	A>G	Pathogenic	Missense variant, coding sequence variant
rs397515633	G>A	Pathogenic	Stop gained, coding sequence variant
rs398122398	C>G	Pathogenic	Terminator codon variant, stop lost
rs398122399	C>T	Pathogenic	Initiator codon variant, missense variant, genic upstream transcript variant
rs1057520576	A>C	Pathogenic	Genic upstream transcript variant, initiator codon variant, missense variant
rs1601596820	C>G	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005548	hsa-miR-146b-3p	ELISA, Immunoblot, Microarray, qRT-PCR	21266476
MIRT029444	hsa-miR-26b-5p	Microarray	19088304
MIRT053627	hsa-let-7f-5p	Microarray	22942087
MIRT438914	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR	23354167
MIRT438914	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR	23354167
MIRT492785	hsa-miR-93-5p	PAR-CLIP	23592263
MIRT492786	hsa-miR-20a-5p	PAR-CLIP	23592263
MIRT492784	hsa-miR-20b-5p	PAR-CLIP	23592263
MIRT492783	hsa-miR-106b-5p	PAR-CLIP	23592263
MIRT492782	hsa-miR-17-5p	PAR-CLIP	23592263
MIRT492781	hsa-miR-106a-5p	PAR-CLIP	23592263
MIRT492780	hsa-miR-519d-3p	PAR-CLIP	23592263
MIRT492779	hsa-miR-526b-3p	PAR-CLIP	23592263
MIRT492778	hsa-miR-519a-3p	PAR-CLIP	23592263
MIRT492777	hsa-miR-519b-3p	PAR-CLIP	23592263
MIRT492776	hsa-miR-519c-3p	PAR-CLIP	23592263
MIRT492775	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT492774	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT492773	hsa-miR-3179	PAR-CLIP	23592263
MIRT492772	hsa-miR-4533	PAR-CLIP	23592263
MIRT492771	hsa-miR-3202	PAR-CLIP	23592263
MIRT492770	hsa-miR-3153	PAR-CLIP	23592263
MIRT492768	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT492769	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT492767	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT492766	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT492765	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT492764	hsa-miR-6079	PAR-CLIP	23592263
MIRT053627	hsa-let-7f-5p	PAR-CLIP	27292025
MIRT737152	hsa-miR-363-5p	PAR-CLIP	27292025
MIRT736680	hsa-miR-432-5p	Luciferase reporter assay, Western blotting, qRT-PCR	33846539
MIRT737152	hsa-miR-363-5p	RNA-seq, qRT-PCR	34058065
MIRT492785	hsa-miR-93-5p	PAR-CLIP	23592263
MIRT492786	hsa-miR-20a-5p	PAR-CLIP	23592263
MIRT492784	hsa-miR-20b-5p	PAR-CLIP	23592263
MIRT492783	hsa-miR-106b-5p	PAR-CLIP	23592263
MIRT492782	hsa-miR-17-5p	PAR-CLIP	23592263
MIRT492781	hsa-miR-106a-5p	PAR-CLIP	23592263
MIRT492780	hsa-miR-519d-3p	PAR-CLIP	23592263
MIRT492779	hsa-miR-526b-3p	PAR-CLIP	23592263
MIRT492778	hsa-miR-519a-3p	PAR-CLIP	23592263
MIRT492777	hsa-miR-519b-3p	PAR-CLIP	23592263
MIRT492776	hsa-miR-519c-3p	PAR-CLIP	23592263
MIRT492775	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT492774	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT492773	hsa-miR-3179	PAR-CLIP	23592263
MIRT492772	hsa-miR-4533	PAR-CLIP	23592263
MIRT492771	hsa-miR-3202	PAR-CLIP	23592263
MIRT492770	hsa-miR-3153	PAR-CLIP	23592263
MIRT492768	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT492769	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT492767	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT492766	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT492765	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT492764	hsa-miR-6079	PAR-CLIP	23592263
MIRT1221160	hsa-miR-1915	CLIP-seq
MIRT1221161	hsa-miR-193a-5p	CLIP-seq
MIRT1221162	hsa-miR-2110	CLIP-seq
MIRT1221163	hsa-miR-3150a-3p	CLIP-seq
MIRT1221164	hsa-miR-4252	CLIP-seq
MIRT1221165	hsa-miR-4270	CLIP-seq
MIRT1221166	hsa-miR-4441	CLIP-seq
MIRT1221167	hsa-miR-4450	CLIP-seq
MIRT1221168	hsa-miR-4733-3p	CLIP-seq
MIRT1221169	hsa-miR-4786-3p	CLIP-seq
MIRT1221170	hsa-miR-635	CLIP-seq
MIRT1221171	hsa-let-7a	CLIP-seq
MIRT1221172	hsa-let-7b	CLIP-seq
MIRT1221173	hsa-let-7c	CLIP-seq
MIRT1221174	hsa-let-7d	CLIP-seq
MIRT1221175	hsa-let-7e	CLIP-seq
MIRT1221176	hsa-let-7f	CLIP-seq
MIRT1221177	hsa-let-7g	CLIP-seq
MIRT1221178	hsa-let-7i	CLIP-seq
MIRT1221179	hsa-miR-1287	CLIP-seq
MIRT1221180	hsa-miR-143	CLIP-seq
MIRT1221181	hsa-miR-1909	CLIP-seq
MIRT1221182	hsa-miR-2467-3p	CLIP-seq
MIRT1221183	hsa-miR-3135b	CLIP-seq
MIRT1221184	hsa-miR-3138	CLIP-seq
MIRT1221185	hsa-miR-3607-5p	CLIP-seq
MIRT1221186	hsa-miR-3685	CLIP-seq
MIRT1221187	hsa-miR-384	CLIP-seq
MIRT1221188	hsa-miR-3913-5p	CLIP-seq
MIRT1221189	hsa-miR-3914	CLIP-seq
MIRT1221190	hsa-miR-3927	CLIP-seq
MIRT1221191	hsa-miR-4266	CLIP-seq
MIRT1221192	hsa-miR-4436b-3p	CLIP-seq
MIRT1221193	hsa-miR-4468	CLIP-seq
MIRT1221194	hsa-miR-4487	CLIP-seq
MIRT1221195	hsa-miR-4491	CLIP-seq
MIRT1221196	hsa-miR-4519	CLIP-seq
MIRT1221197	hsa-miR-4520a-3p	CLIP-seq
MIRT1221198	hsa-miR-4657	CLIP-seq
MIRT1221199	hsa-miR-4668-5p	CLIP-seq
MIRT1221200	hsa-miR-4694-3p	CLIP-seq
MIRT1221201	hsa-miR-4695-5p	CLIP-seq
MIRT1221202	hsa-miR-4779	CLIP-seq
MIRT1221203	hsa-miR-4800-5p	CLIP-seq
MIRT1221204	hsa-miR-4802-5p	CLIP-seq
MIRT1221205	hsa-miR-488	CLIP-seq
MIRT1221206	hsa-miR-619	CLIP-seq
MIRT1221207	hsa-miR-765	CLIP-seq
MIRT1221208	hsa-miR-98	CLIP-seq
MIRT1552167	hsa-miR-1270	CLIP-seq
MIRT1552168	hsa-miR-150	CLIP-seq
MIRT1221160	hsa-miR-1915	CLIP-seq
MIRT1552169	hsa-miR-4287	CLIP-seq
MIRT1552170	hsa-miR-432	CLIP-seq
MIRT1552171	hsa-miR-4531	CLIP-seq
MIRT1552172	hsa-miR-4685-3p	CLIP-seq
MIRT1552173	hsa-miR-4713-5p	CLIP-seq
MIRT1552174	hsa-miR-4726-3p	CLIP-seq
MIRT1552175	hsa-miR-4780	CLIP-seq
MIRT1552176	hsa-miR-532-3p	CLIP-seq
MIRT1552177	hsa-miR-620	CLIP-seq
MIRT1552178	hsa-miR-623	CLIP-seq
MIRT1552179	hsa-miR-769-5p	CLIP-seq
MIRT2063814	hsa-miR-1275	CLIP-seq
MIRT1221181	hsa-miR-1909	CLIP-seq
MIRT2063815	hsa-miR-29a	CLIP-seq
MIRT2063816	hsa-miR-29b	CLIP-seq
MIRT2063817	hsa-miR-29c	CLIP-seq
MIRT2063818	hsa-miR-4269	CLIP-seq
MIRT2063819	hsa-miR-4271	CLIP-seq
MIRT2063820	hsa-miR-4447	CLIP-seq
MIRT2063821	hsa-miR-4472	CLIP-seq
MIRT2063822	hsa-miR-4514	CLIP-seq
MIRT2063823	hsa-miR-4525	CLIP-seq
MIRT2063824	hsa-miR-4651	CLIP-seq
MIRT2063825	hsa-miR-4665-5p	CLIP-seq
MIRT2063826	hsa-miR-4692	CLIP-seq
MIRT2063827	hsa-miR-4723-5p	CLIP-seq
MIRT2063828	hsa-miR-4725-3p	CLIP-seq
MIRT2063829	hsa-miR-4742-5p	CLIP-seq
MIRT2063830	hsa-miR-608	CLIP-seq
MIRT1552178	hsa-miR-623	CLIP-seq
MIRT2063831	hsa-miR-625	CLIP-seq
MIRT2063832	hsa-miR-764	CLIP-seq
MIRT2063833	hsa-miR-767-5p	CLIP-seq
MIRT2063834	hsa-miR-140-3p	CLIP-seq
MIRT2063835	hsa-miR-3145-5p	CLIP-seq
MIRT2063836	hsa-miR-338-5p	CLIP-seq
MIRT2063818	hsa-miR-4269	CLIP-seq
MIRT2063819	hsa-miR-4271	CLIP-seq
MIRT2063822	hsa-miR-4514	CLIP-seq
MIRT2063826	hsa-miR-4692	CLIP-seq
MIRT2063828	hsa-miR-4725-3p	CLIP-seq
MIRT2063829	hsa-miR-4742-5p	CLIP-seq
MIRT2063837	hsa-miR-656	CLIP-seq
MIRT2292305	hsa-miR-1207-5p	CLIP-seq
MIRT1221181	hsa-miR-1909	CLIP-seq
MIRT1221164	hsa-miR-4252	CLIP-seq
MIRT2063819	hsa-miR-4271	CLIP-seq
MIRT2292306	hsa-miR-4459	CLIP-seq
MIRT1221201	hsa-miR-4695-5p	CLIP-seq
MIRT2292307	hsa-miR-4722-5p	CLIP-seq
MIRT2063828	hsa-miR-4725-3p	CLIP-seq
MIRT2292308	hsa-miR-4736	CLIP-seq
MIRT2292309	hsa-miR-4763-3p	CLIP-seq
MIRT1221169	hsa-miR-4786-3p	CLIP-seq
MIRT1552178	hsa-miR-623	CLIP-seq
MIRT2063832	hsa-miR-764	CLIP-seq
MIRT2292310	hsa-miR-139-5p	CLIP-seq
MIRT2292311	hsa-miR-3120-3p	CLIP-seq
MIRT2063818	hsa-miR-4269	CLIP-seq
MIRT2063819	hsa-miR-4271	CLIP-seq
MIRT2063822	hsa-miR-4514	CLIP-seq
MIRT2063826	hsa-miR-4692	CLIP-seq
MIRT2063828	hsa-miR-4725-3p	CLIP-seq
MIRT2063829	hsa-miR-4742-5p	CLIP-seq
MIRT2292312	hsa-miR-545	CLIP-seq
MIRT2292313	hsa-miR-622	CLIP-seq
MIRT2590053	hsa-miR-19a	CLIP-seq
MIRT2590054	hsa-miR-19b	CLIP-seq
MIRT1221162	hsa-miR-2110	CLIP-seq
MIRT2063819	hsa-miR-4271	CLIP-seq
MIRT2590055	hsa-miR-4426	CLIP-seq
MIRT2590056	hsa-miR-4647	CLIP-seq
MIRT2590057	hsa-miR-4662b	CLIP-seq
MIRT2063828	hsa-miR-4725-3p	CLIP-seq
MIRT2590058	hsa-miR-595	CLIP-seq
MIRT2590059	hsa-miR-648	CLIP-seq
MIRT2590053	hsa-miR-19a	CLIP-seq
MIRT2590054	hsa-miR-19b	CLIP-seq
MIRT1221162	hsa-miR-2110	CLIP-seq
MIRT2063819	hsa-miR-4271	CLIP-seq
MIRT2590055	hsa-miR-4426	CLIP-seq
MIRT2590056	hsa-miR-4647	CLIP-seq
MIRT2590057	hsa-miR-4662b	CLIP-seq
MIRT2063828	hsa-miR-4725-3p	CLIP-seq
MIRT2590058	hsa-miR-595	CLIP-seq
MIRT2590059	hsa-miR-648	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
EGR1	Activation	16092976
ELK1	Unknown	9690620
FOXO1	Unknown	19244250
SP1	Unknown	22415074

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0001525	Process	Angiogenesis	IBA
GO:0001892	Process	Embryonic placenta development	ISS
GO:0001938	Process	Positive regulation of endothelial cell proliferation	IDA	9685360
GO:0002548	Process	Monocyte chemotaxis	IDA	17991872
GO:0003104	Process	Positive regulation of glomerular filtration	ISS
GO:0005161	Function	Platelet-derived growth factor receptor binding	EXP	20534510
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:0005161	Function	Platelet-derived growth factor receptor binding	NAS	1661670
GO:0005515	Function	Protein binding	IPI	2536956, 7679113, 10806482, 11297552, 12070119, 17981115, 20534510, 32296183
GO:0005518	Function	Collagen binding	IDA	8900172
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	1661670
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005737	Component	Cytoplasm	ISS
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005796	Component	Golgi lumen	TAS
GO:0006468	Process	Protein phosphorylation	IDA	17942966
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IEA
GO:0007507	Process	Heart development	ISS
GO:0008083	Function	Growth factor activity	IDA	12070119
GO:0008083	Function	Growth factor activity	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	2439522, 2836953, 7073684, 16530387
GO:0009611	Process	Response to wounding	IDA	2538439
GO:0009611	Process	Response to wounding	NAS	1661670
GO:0009986	Component	Cell surface	IDA	291037, 2538439, 2836953, 9685360
GO:0010467	Process	Gene expression	IDA	16530387
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010512	Process	Negative regulation of phosphatidylinositol biosynthetic process	IDA	2538439
GO:0010544	Process	Negative regulation of platelet activation	IDA	2538439
GO:0010557	Process	Positive regulation of macromolecule biosynthetic process	IEA
GO:0010628	Process	Positive regulation of gene expression	IDA	23554459
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0010629	Process	Negative regulation of gene expression	IDA	16530387, 23554459, 25089138
GO:0010811	Process	Positive regulation of cell-substrate adhesion	IDA	19126672
GO:0014805	Process	Smooth muscle adaptation	NAS	16477012
GO:0014911	Process	Positive regulation of smooth muscle cell migration	IDA	9409235
GO:0014911	Process	Positive regulation of smooth muscle cell migration	IEA
GO:0016020	Component	Membrane	IEA
GO:0016176	Function	Superoxide-generating NADPH oxidase activator activity	IDA	17942966
GO:0016323	Component	Basolateral plasma membrane	ISS
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IDA	10734101
GO:0030097	Process	Hemopoiesis	IMP	11264163
GO:0030335	Process	Positive regulation of cell migration	IBA
GO:0030335	Process	Positive regulation of cell migration	IDA	11788434, 21245381
GO:0031012	Component	Extracellular matrix	HDA	23979707
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0031954	Process	Positive regulation of protein autophosphorylation	IDA	12070119
GO:0035556	Process	Intracellular signal transduction	IMP	24008408
GO:0035655	Process	Interleukin-18-mediated signaling pathway	IDA	21321938
GO:0035793	Process	Positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway	IDA	19019919
GO:0036120	Process	Cellular response to platelet-derived growth factor stimulus	IDA	9685360
GO:0036120	Process	Cellular response to platelet-derived growth factor stimulus	ISS
GO:0038001	Process	Paracrine signaling	ISS
GO:0042056	Function	Chemoattractant activity	IDA	21245381
GO:0042802	Function	Identical protein binding	IPI	1396586, 7679113, 23139410
GO:0042803	Function	Protein homodimerization activity	IDA	2836953
GO:0043406	Process	Positive regulation of MAP kinase activity	IDA	11788434, 17942966
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	9685360
GO:0043410	Process	Positive regulation of MAPK cascade	IMP	11788434
GO:0043536	Process	Positive regulation of blood vessel endothelial cell migration	IDA	9685360
GO:0045840	Process	Positive regulation of mitotic nuclear division	IDA	10644978, 10734101, 17942966
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	25089138
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	17324121
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, 9685360, 16477012, 16530387, 19088079, 21245381, 23554459
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, 10644978, 17324121
GO:0048407	Function	Platelet-derived growth factor binding	IPI	7073684
GO:0048661	Process	Positive regulation of smooth muscle cell proliferation	IDA	21321938
GO:0048661	Process	Positive regulation of smooth muscle cell proliferation	IEA
GO:0048661	Process	Positive regulation of smooth muscle cell proliferation	ISS
GO:0050918	Process	Positive chemotaxis	IEA
GO:0050921	Process	Positive regulation of chemotaxis	IDA	9409235, 19019919
GO:0051239	Process	Regulation of multicellular organismal process	IEA
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	10734101, 11788434, 16477012, 16530387, 17942966, 19126672
GO:0060326	Process	Cell chemotaxis	IDA	16014047, 17991872, 21245381
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IBA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	11788434, 16530387, 17942966
GO:0071363	Process	Cellular response to growth factor stimulus	IDA	21245381
GO:0071506	Process	Cellular response to mycophenolic acid	ISS
GO:0072126	Process	Positive regulation of glomerular mesangial cell proliferation	IDA	11788434, 16014047
GO:0072255	Process	Metanephric glomerular mesangial cell development	ISS
GO:0072593	Process	Reactive oxygen species metabolic process	IMP	17942966
GO:0090280	Process	Positive regulation of calcium ion import	IDA	19019919
GO:1900127	Process	Positive regulation of hyaluronan biosynthetic process	IDA	17324121
GO:1902533	Process	Positive regulation of intracellular signal transduction	IEA
GO:1902894	Process	Negative regulation of miRNA transcription	IDA	26493107
GO:1902895	Process	Positive regulation of miRNA transcription	IDA	19088079
GO:1904707	Process	Positive regulation of vascular associated smooth muscle cell proliferation	IDA	12070119, 19088079, 23554459
GO:1904754	Process	Positive regulation of vascular associated smooth muscle cell migration	IDA	12070119, 19088079, 23554459
GO:1905064	Process	Negative regulation of vascular associated smooth muscle cell differentiation	IDA	19088079
GO:1905176	Process	Positive regulation of vascular associated smooth muscle cell dedifferentiation	IDA	19088079
GO:1990265	Component	Platelet-derived growth factor complex	IPI	7679113
GO:2000379	Process	Positive regulation of reactive oxygen species metabolic process	IDA	19019919
GO:2000573	Process	Positive regulation of DNA biosynthetic process	IDA	10644978, 10734101, 11788434, 12070119, 17942966, 19019919
GO:2000591	Process	Positive regulation of metanephric mesenchymal cell migration	IDA	10734101

Other IDs

• MIM: 190040
• HGNC: 8800
• e!Ensembl: ENSG00000100311

Protein

• UniProt ID: P01127
• Protein name: Platelet-derived growth factor subunit B (PDGF subunit B) (PDGF-2) (Platelet-derived growth factor B chain) (Platelet-derived growth factor beta polypeptide) (Proto-oncogene c-Sis) (Becaplermin)
• 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 (PubMed:26599395). Required for normal proliferati
• PDB: 1PDG, 3MJG, 4HQU, 4HQX, 4QCI, 6T9E
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04692	PDGF_N	21 → 93	Platelet-derived growth factor, N terminal region	Family
  PF00341	PDGF	97 → 180	PDGF/VEGF domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed at high levels in the heart, brain (sustantia nigra), placenta and fetal kidney. Expressed at moderate levels in the brain (hippocampus), skeletal muscle, kidney and lung. {ECO:0000269|PubMed:11331882}.
• Sequence:

  MNRCWALFLSLCCYLRLVSAEGDPIPEELYEMLSDHSIRSFDDLQRLLHGDPGEEDGAEL
  DLNMTRSHSGGELESLARGRRSLGSLTIAEPAMIAECKTRTEVFEISRRLIDRTNANFLV
  WPPCVEVQRCSGCCNNRNVQCRPTQVQLRPVQVRKIEIVRKKPIFKKATVTLEDHLACKC
  ETVAAARPVTRSPGGSQEQRAKTPQTRVTIRTVRVRRPPKGKHRKFKHTHDKTALKETLG
  A

• Sequence length: 241

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
Kaposi sarcoma-associated herpesvirus infection
Pathways in cancer
MicroRNAs in cancer
Renal cell carcinoma
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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Basal ganglia calcification, idiopathic, 5	Likely pathogenic; Pathogenic	rs1390541592, rs1372805291, rs397515631, rs397515632, rs398122398, rs397515633, rs398122399, rs1932632616	RCV003741129 RCV003741130 RCV000066212 RCV000066214 RCV000066216 RCV000066218 RCV000066220 RCV001253677	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Meningioma	Pathogenic	rs2517756784	RCV000013429	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PDGFB-related disorder	Pathogenic	rs397515633	RCV004730870	★★★★☆ 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
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL GANGLIA DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILATERAL STRIOPALLIDODENTATE CALCINOSIS	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY LIVER CIRRHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CALCINOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEGENERATION OF MACULA AND POSTERIOR POLE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatofibrosarcoma protuberans	Benign; Likely benign	ClinVar Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FAHR'S DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAHRS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial meningioma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar ClinVar, GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FAMILIAL MULTIPLE MENINGIOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GINGIVAL HYPERPLASIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic basal ganglia calcification 1	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar ClinVar, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENINGIOMA, FAMILIAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE MYELOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC HYPERTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY FIBROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOCYTHEMIA, ESSENTIAL	—	CTD, Disgenet CTD, 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 Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	8761308		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	3118359		★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	2955817		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	17785554		★☆☆☆☆ Found in Text Mining only
Alveolitis, Fibrosing	Alveolitis	CTD_human_DG	15286697		★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	30021357		★☆☆☆☆ Found in Text Mining only
Amnesia, Transient Global	Amnesia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anaplastic Oligodendroglioma	Anaplastic Oligodendroglioma	BEFREE	21171016		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	22571903		★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid syndrome	Pubtator	34489952	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	2434949		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	7576701		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	2164040		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	2164040	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	12023768		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	1906887, 3282240, 38175715	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	2434949		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	2434949	Stimulate	★☆☆☆☆ Found in Text Mining only
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5	Basal ganglia calcification	UNIPROT_DG	23913003, 26599395		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5	Basal ganglia calcification	GENOMICS_ENGLAND_DG	25211641, 26129893, 27227165		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5	Basal ganglia calcification	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5	Basal ganglia calcification	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Basal Ganglia Diseases	Basal Ganglia Diseases	CTD_human_DG	25938945		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bilateral striopallidodentate calcinosis	Bilateral Striopallidodentate Calcinosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blood Platelet Disorders	Platelet disorder	Pubtator	26367242	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	16731589	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	2585029		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	33568653	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23537647		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23012449, 23912956, 35793004	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22376240	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27821810	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	18408656	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	9389786		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	32923157	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	25550804, 26215891, 37047421, 8855223	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	35662501	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	24299561	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	27031288		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	25327457		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	25327457	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	37584462	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia Deafness and Narcolepsy	Cerebellar ataxia, deafness, and narcolepsy	Pubtator	37584462	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	38156729	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	38156729	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28733434		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	21492330	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cirrhosis	Cirrhosis	CTD_human_DG	22004089		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	29955172	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	8238254	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	18478301		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	27835972	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	36059119	Associate	★☆☆☆☆ Found in Text Mining only
Costello syndrome (disorder)	Costello syndrome	BEFREE	15081117		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	25578979	Associate	★☆☆☆☆ Found in Text Mining only
Cutaneous Fibrous Histiocytoma	Fibrous Histiocytoma	BEFREE	19663837, 22523339		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	20717068	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	37584462	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	27031288, 28436345		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatofibrosarcoma	Dermatofibrosarcoma	BEFREE	10072161, 10963386, 11329146, 11420709, 12034531, 12786837, 14643521, 16040406, 16980946, 17431412, 17478383, 17950782, 19635106, 21111450, 22842571, 23199263, 23347652, 27806849, 28150334, 29140881, 29955147, 8988177, 9739023, 9771975, 9790508		★☆☆☆☆ Found in Text Mining only
Dermatofibrosarcoma	Dermatofibrosarcoma	LHGDN	12034531, 12127408, 17431412, 17950782		★☆☆☆☆ Found in Text Mining only
Dermatofibrosarcoma	Dermatofibrosarcoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Dermatofibrosarcoma Protuberans	Dermatofibrosarcoma Protuberans	BEFREE	10072161, 10963386, 11272901, 11329146, 11420709, 11435686, 11479215, 12034531, 12641779, 12660034, 12786837, 14643521, 16040406, 16126884, 16640548, 16681596, 16731589, 16980946, 17124411, 17431412, 17478383, 17950782, 18069662, 18253748, 19635106, 19663837, 20061935, 21111450, 21128251, 21484928, 22523339, 22842571, 23199263, 23207290, 23347652, 23922791, 24173542, 24525843, 25852058, 26261653, 27806849, 28150334, 29140881, 29792909, 29955147, 30155908, 30874910, 8988177, 9771975, 9790508		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Dermatofibrosarcoma Protuberans	Dermatofibrosarcoma Protuberans	ORPHANET_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Dermatofibrosarcoma protuberans	Dermatofibrosarcoma Protuberans	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Dermatofibrosarcoma Protuberans, Myxoid	Dermatofibrosarcoma Protuberans	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Desmoplastic Small Round Cell Tumor	Desmoplastic small round cell tumor	Pubtator	22403002	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	20144210	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23337395		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	2955817		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	2955817	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	15331406		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	18084257	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30021357, 8660379		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	36290884	Associate	★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Extrapyramidal Disorders	Extrapyramidal disease	CTD_human_DG	25938945		★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fahr's disease	Fahr's disease	Pubtator	24518837, 24796542, 25211641, 28935882, 29578123, 29955172, 30952898, 33714066, 33793087, 36206226, 36862146, 38156729, 38433263	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fahr`s syndrome (disorder)	Fahr`s Syndrome	ORPHANET_DG	23913003		★☆☆☆☆ Found in Text Mining only
Fahr`s syndrome (disorder)	Fahr`s Syndrome	GENOMICS_ENGLAND_DG	25211641, 27227165		★☆☆☆☆ Found in Text Mining only
Familial meningioma	Meningioma	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial multiple meningioma	Multiple Meningioma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibromatosis, Aggressive	Fibromatosis	BEFREE	17785554		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	11329146, 30877273		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frasier Syndrome	Fraser syndrome	Pubtator	11272901	Associate	★☆☆☆☆ Found in Text Mining only
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	31847785	Associate	★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	26320430, 38554345	Associate	★☆☆☆☆ Found in Text Mining only
Gallstones	Gallstones	Pubtator	26320430	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	25987131	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	33524869	Inhibit	★☆☆☆☆ Found in Text Mining only
Gastroparesis	Gastroparesis	Pubtator	29052298	Associate	★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant cell arteritis	Pubtator	40084998	Associate	★☆☆☆☆ Found in Text Mining only
Giant Cell Fibroblastoma	Giant Cell Fibroblastoma	BEFREE	10072161, 10963386, 11272901, 11329146, 11420709, 11435686, 11479215, 12034531, 12641779, 12660034, 12786837, 14643521, 16040406, 16126884, 16634907, 16640548, 16681596, 16731589, 16980946, 17124411, 17431412, 17478383, 17950782, 18069662, 18253748, 19635106, 19663837, 20061935, 21111450, 21128251, 21484928, 22523339, 22842571, 23199263, 23207290, 23347652, 23922791, 24108432, 24173542, 24525843, 25852058, 26261653, 27806849, 28059097, 28150334, 29140881, 29792909, 29955147, 30155908, 30874910, 8988177, 9739023, 9771975, 9790508		★☆☆☆☆ Found in Text Mining only
Giant Cell Fibroblastoma	Giant Cell Fibroblastoma	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Giant Cell Fibroblastoma	Giant Cell Fibroblastoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	19115382, 1997889, 2585029, 2655888, 2901834		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34875133	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	19115382, 1997889, 2585029, 2655888		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	14997209, 17292826		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	1653246, 16760646, 17292826, 28534507, 34562087	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	18922925, 24023893, 2585029, 29391393		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	25478951	Stimulate	★☆☆☆☆ Found in Text Mining only
Gliosarcoma	Gliosarcoma	Pubtator	16731589	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	9057949, 9176853		★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	8579107	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	27923325		★☆☆☆☆ Found in Text Mining only
Headache	Headache	Pubtator	36206226	Associate	★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	Pubtator	33762682	Associate	★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	BEFREE	7874940		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	26320430, 40084998	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothalamic hypothyroidism	Hypothalamic hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	34637697, 35793004	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	36484652	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic basal ganglia calcification 1	Basal Ganglia Calcification	CTD_human_DG	23913003		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Idiopathic basal ganglia calcification childhood onset	Idiopathic basal ganglia calcification	Pubtator	25292412	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	2170444		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	2170444	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	2347924	Stimulate	★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	1500821, 9176853, 9242367		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	31804621		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	25327457		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	25327457	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28070781, 31675653		★☆☆☆☆ Found in Text Mining only
Intracranial Meningioma	Intracranial Meningioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	25411894		★☆☆☆☆ Found in Text Mining only
Ischemic Attack Transient	Transient ischemic attack	Pubtator	38156729	Associate	★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	38064228	Inhibit	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	12427131	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal dystonia	Laryngeal dystonia	BEFREE	24518837		★☆☆☆☆ Found in Text Mining only
Laryngitis	Laryngitis	Pubtator	24518837	Associate	★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	30877273		★☆☆☆☆ Found in Text Mining only
Lenticulostriate Disorders	Lenticulostriate Disorders	CTD_human_DG	25938945		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	2653488, 2955817		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	3529084	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Chronic	Myelomonocytic leukemia	Pubtator	3456250	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	3276363		★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	24604296		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	20506153		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27821810, 28863147		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	LHGDN	14760763		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	25327457, 25690649	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	3722386	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	17671690, 18758297		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	21729646, 26517240, 28204826	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	9057949		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	19628565, 23012449, 32235327	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	1829952	Associate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	16731589		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	20468047		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	27923325		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	8988239		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23537647		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29168174		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25131421		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	30335555		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	1651380, 22019588, 28857077		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16596190		★☆☆☆☆ Found in Text Mining only
Mannose-Binding Protein Deficiency	Mannose-Binding Protein Deficiency	BEFREE	26745156		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	LHGDN	12176024		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	7685850		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	7685850	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	33762682	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	8344381		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	1868450, 2163990, 2182793, 7531297, 7595638, 8242588		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meningioma	Meningioma	ORPHANET_DG	2212004		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meningioma	Meningioma	Pubtator	2212004, 29858948	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meningioma	Meningioma	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meningioma	Meningioma	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mental Depression	Mental Depression	BEFREE	27031288, 28436345		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	30021357		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	3479241, 8427711		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	8988239	Associate	★☆☆☆☆ Found in Text Mining only
Metastatic Dermatofibrosarcoma Protuberans	Metastatic Dermatofibrosarcoma Protuberans	BEFREE	11329146, 16980946		★☆☆☆☆ Found in Text Mining only
Metastatic Dermatofibrosarcoma Protuberans	Metastatic Dermatofibrosarcoma Protuberans	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	35546551	Stimulate	★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	BEFREE	30021357		★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	31314805	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	38156729	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	6208953, 6336312		★☆☆☆☆ Found in Text Mining only
Myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	3276363		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	38175715	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	7576701		★☆☆☆☆ Found in Text Mining only
Neck Neoplasms	Neck Neoplasms	BEFREE	12226751		★☆☆☆☆ Found in Text Mining only
Neoplasm of the anterior pituitary	Brain Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasm of the posterior pituitary	Brain Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10963386, 11272901, 11420709, 12034531, 12660034, 12786837, 1323300, 1716514, 17227125, 17431412, 17950782, 18253748, 18922925, 19663837, 20468047, 21171016, 22335595, 23347652, 24194900, 2585029, 2651898, 28420485, 2845420, 28512247, 28836293, 29140881, 30877273, 3754619, 7685850, 8177392, 8491760, 9652750, 9771975		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	LHGDN	15496150		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	30021357		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	8376577	Associate	★☆☆☆☆ Found in Text Mining only
neurofibroma	Neurofibroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculomotor Nerve Paralysis	Oculomotor nerve palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	3456904, 8662647		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	3456904, 3460062, 8662647	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	28397199	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	18075302		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	28397199, 33921111	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29168174		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	22403002	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	16680157	Associate	★☆☆☆☆ Found in Text Mining only
Papilledema	Papilledema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	29955172	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pigmented Dermatofibrosarcoma Protuberans (Bednar Tumor)	Pigmented Dermatofibrosarcoma Protuberans	BEFREE	12034531, 16843106		★☆☆☆☆ Found in Text Mining only
Pigmented Dermatofibrosarcoma Protuberans (Bednar Tumor)	Pigmented Dermatofibrosarcoma Protuberans	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Posterior fossa compression syndrome	Brain stem compression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	3118359		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	25327457		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial brain calcification	Brain Calcification	BEFREE	25211641, 25686319, 25938945, 26475232, 26599395, 28766044, 30607898, 30609140, 30634018, 31768941		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	LHGDN	17157157		★☆☆☆☆ Found in Text Mining only
Prostate cancer familial	Prostate cancer	Pubtator	29095436	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25131421		★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism	Pseudohypoparathyroidism	BEFREE	28162874		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	30543306	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	CTD_human_DG	15286697		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal Diseases	Retinal Diseases	CTD_human_DG	11840346		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy of prematurity	Pubtator	40084286	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoidosis Pulmonary	Sarcoidosis	Pubtator	2341565	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	LHGDN	15919668		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	BEFREE	16731589, 30877273, 3165051		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	16731589, 29104083, 30877273, 33762682, 35238118, 36928336	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Kaposi	Sarcoma	Pubtator	1323124, 8952524	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	16926102, 30021357		★☆☆☆☆ Found in Text Mining only
Secondary growth hormone deficiency	Growth Hormone Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe combined immunodeficiency due to adenosine deaminase deficiency	Severe combined immunodeficiency	Pubtator	22153773	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	9771975		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	26684580, 30187985		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinal Cord Neoplasms	Spinal Cord Neoplasms	BEFREE	18922925		★☆☆☆☆ Found in Text Mining only
Spinal Meningioma	Spinal Meningioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	37798786	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	39375732	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	21118571, 28423550, 38106450	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	38156729	Associate	★☆☆☆☆ Found in Text Mining only
Subcutaneous hemorrhage	Subcutaneous hemorrhage	HPO_DG			★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	LHGDN	16081426		★☆☆☆☆ 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
Thrombocytopenia	Thrombocytopenia	Pubtator	23620752	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocytosis, Autosomal Dominant	Thrombocytosis	CTD_human_DG	15682418		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	18310286		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	7691865		★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	BEFREE	28162874		★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tumoral calcinosis	Tumoral Calcinosis	CTD_human_DG	25938945		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	25311137	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Endometrial Neoplasms	BEFREE	30877273		★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Uterine neoplasm	Pubtator	30877273	Associate	★☆☆☆☆ Found in Text Mining only
Venous Malformations Multiple Cutaneous and Mucosal	Venous malformation	Pubtator	23633549, 32867785	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	27742707	Stimulate	★☆☆☆☆ Found in Text Mining only