FGF10 (fibroblast growth factor 10)

Gene

• Entrez ID: 2255
• Gene name: Fibroblast growth factor 10
• Gene symbol: FGF10
• Synonyms (NCBI Gene): LADD3
• Chromosome: 5
• Chromosome location: 5p12
• Summary: The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cel

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893884	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained
rs104893886	A>C	Pathogenic	Coding sequence variant, missense variant
rs104893887	T>A	Pathogenic	Coding sequence variant, stop gained
rs104893889	C>T	Pathogenic	Coding sequence variant, missense variant
rs1554035469	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554035473	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554035757	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554035763	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018544	hsa-miR-335-5p	Microarray	18185580
MIRT633902	hsa-miR-6748-3p	HITS-CLIP	23824327
MIRT633901	hsa-miR-4421	HITS-CLIP	23824327
MIRT633900	hsa-miR-5699-3p	HITS-CLIP	23824327
MIRT633899	hsa-miR-6841-3p	HITS-CLIP	23824327
MIRT668358	hsa-miR-1915-5p	HITS-CLIP	23824327
MIRT633898	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT633897	hsa-miR-516a-3p	HITS-CLIP	23824327
MIRT633896	hsa-miR-516b-3p	HITS-CLIP	23824327
MIRT633895	hsa-miR-7162-5p	HITS-CLIP	23824327
MIRT633894	hsa-miR-6830-3p	HITS-CLIP	23824327
MIRT633893	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT668357	hsa-miR-3977	HITS-CLIP	23824327
MIRT633892	hsa-miR-511-5p	HITS-CLIP	23824327
MIRT633891	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT658151	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT628223	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT628222	hsa-miR-4705	HITS-CLIP	23824327
MIRT628221	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT623946	hsa-miR-7705	HITS-CLIP	23824327
MIRT638733	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT616822	hsa-miR-1283	HITS-CLIP	23824327
MIRT616821	hsa-miR-3671	HITS-CLIP	23824327
MIRT616820	hsa-miR-607	HITS-CLIP	23824327
MIRT616819	hsa-miR-1305	HITS-CLIP	23824327
MIRT616818	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT658151	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT628223	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT628221	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT616822	hsa-miR-1283	HITS-CLIP	23824327
MIRT616821	hsa-miR-3671	HITS-CLIP	23824327
MIRT616820	hsa-miR-607	HITS-CLIP	23824327
MIRT616819	hsa-miR-1305	HITS-CLIP	23824327
MIRT616818	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT616822	hsa-miR-1283	HITS-CLIP	23824327
MIRT616821	hsa-miR-3671	HITS-CLIP	23824327
MIRT616820	hsa-miR-607	HITS-CLIP	23824327
MIRT616819	hsa-miR-1305	HITS-CLIP	23824327
MIRT616818	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT623946	hsa-miR-7705	HITS-CLIP	23824327
MIRT638733	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT616822	hsa-miR-1283	HITS-CLIP	23824327
MIRT616821	hsa-miR-3671	HITS-CLIP	23824327
MIRT616820	hsa-miR-607	HITS-CLIP	23824327
MIRT616819	hsa-miR-1305	HITS-CLIP	23824327
MIRT616818	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT616822	hsa-miR-1283	HITS-CLIP	23824327
MIRT616821	hsa-miR-3671	HITS-CLIP	23824327
MIRT616820	hsa-miR-607	HITS-CLIP	23824327
MIRT616819	hsa-miR-1305	HITS-CLIP	23824327
MIRT616818	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT633902	hsa-miR-6748-3p	HITS-CLIP	23824327
MIRT633901	hsa-miR-4421	HITS-CLIP	23824327
MIRT633900	hsa-miR-5699-3p	HITS-CLIP	23824327
MIRT633899	hsa-miR-6841-3p	HITS-CLIP	23824327
MIRT633898	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT633897	hsa-miR-516a-3p	HITS-CLIP	23824327
MIRT633896	hsa-miR-516b-3p	HITS-CLIP	23824327
MIRT633895	hsa-miR-7162-5p	HITS-CLIP	23824327
MIRT633894	hsa-miR-6830-3p	HITS-CLIP	23824327
MIRT633893	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT633892	hsa-miR-511-5p	HITS-CLIP	23824327
MIRT633891	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT616821	hsa-miR-3671	HITS-CLIP	23824327
MIRT616820	hsa-miR-607	HITS-CLIP	23824327
MIRT616819	hsa-miR-1305	HITS-CLIP	23824327
MIRT616818	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT628223	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT628222	hsa-miR-4705	HITS-CLIP	23824327
MIRT628221	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT623946	hsa-miR-7705	HITS-CLIP	23824327
MIRT616822	hsa-miR-1283	HITS-CLIP	23824327
MIRT616818	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT616822	hsa-miR-1283	HITS-CLIP	23824327
MIRT616821	hsa-miR-3671	HITS-CLIP	23824327
MIRT616820	hsa-miR-607	HITS-CLIP	23824327
MIRT616819	hsa-miR-1305	HITS-CLIP	23824327
MIRT616818	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT733529	hsa-miR-145-5p	Immunofluorescence, Immunohistochemistry (IHC), Luciferase reporter assay, qRT-PCR, Western blotting	31431501
MIRT633902	hsa-miR-6748-3p	HITS-CLIP	23824327
MIRT633901	hsa-miR-4421	HITS-CLIP	23824327
MIRT633900	hsa-miR-5699-3p	HITS-CLIP	23824327
MIRT633899	hsa-miR-6841-3p	HITS-CLIP	23824327
MIRT668358	hsa-miR-1915-5p	HITS-CLIP	23824327
MIRT633898	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT633897	hsa-miR-516a-3p	HITS-CLIP	23824327
MIRT633896	hsa-miR-516b-3p	HITS-CLIP	23824327
MIRT633895	hsa-miR-7162-5p	HITS-CLIP	23824327
MIRT633894	hsa-miR-6830-3p	HITS-CLIP	23824327
MIRT633893	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT668357	hsa-miR-3977	HITS-CLIP	23824327
MIRT633892	hsa-miR-511-5p	HITS-CLIP	23824327
MIRT633891	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT658151	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT628223	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT628222	hsa-miR-4705	HITS-CLIP	23824327
MIRT628221	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT623946	hsa-miR-7705	HITS-CLIP	23824327
MIRT638733	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT616822	hsa-miR-1283	HITS-CLIP	23824327
MIRT616821	hsa-miR-3671	HITS-CLIP	23824327
MIRT616820	hsa-miR-607	HITS-CLIP	23824327
MIRT616819	hsa-miR-1305	HITS-CLIP	23824327
MIRT616818	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT658151	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT628223	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT628221	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT616822	hsa-miR-1283	HITS-CLIP	23824327
MIRT616821	hsa-miR-3671	HITS-CLIP	23824327
MIRT616820	hsa-miR-607	HITS-CLIP	23824327
MIRT616819	hsa-miR-1305	HITS-CLIP	23824327
MIRT616818	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT616822	hsa-miR-1283	HITS-CLIP	23824327
MIRT616821	hsa-miR-3671	HITS-CLIP	23824327
MIRT616820	hsa-miR-607	HITS-CLIP	23824327
MIRT616819	hsa-miR-1305	HITS-CLIP	23824327
MIRT616818	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT623946	hsa-miR-7705	HITS-CLIP	23824327
MIRT638733	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT616822	hsa-miR-1283	HITS-CLIP	23824327
MIRT616821	hsa-miR-3671	HITS-CLIP	23824327
MIRT616820	hsa-miR-607	HITS-CLIP	23824327
MIRT616819	hsa-miR-1305	HITS-CLIP	23824327
MIRT616818	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT616822	hsa-miR-1283	HITS-CLIP	23824327
MIRT616821	hsa-miR-3671	HITS-CLIP	23824327
MIRT616820	hsa-miR-607	HITS-CLIP	23824327
MIRT616819	hsa-miR-1305	HITS-CLIP	23824327
MIRT616818	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT633902	hsa-miR-6748-3p	HITS-CLIP	23824327
MIRT633901	hsa-miR-4421	HITS-CLIP	23824327
MIRT633900	hsa-miR-5699-3p	HITS-CLIP	23824327
MIRT633899	hsa-miR-6841-3p	HITS-CLIP	23824327
MIRT633898	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT633897	hsa-miR-516a-3p	HITS-CLIP	23824327
MIRT633896	hsa-miR-516b-3p	HITS-CLIP	23824327
MIRT633895	hsa-miR-7162-5p	HITS-CLIP	23824327
MIRT633894	hsa-miR-6830-3p	HITS-CLIP	23824327
MIRT633893	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT633892	hsa-miR-511-5p	HITS-CLIP	23824327
MIRT633891	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT616821	hsa-miR-3671	HITS-CLIP	23824327
MIRT616820	hsa-miR-607	HITS-CLIP	23824327
MIRT616819	hsa-miR-1305	HITS-CLIP	23824327
MIRT616818	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT628223	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT628222	hsa-miR-4705	HITS-CLIP	23824327
MIRT628221	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT623946	hsa-miR-7705	HITS-CLIP	23824327
MIRT616822	hsa-miR-1283	HITS-CLIP	23824327
MIRT616818	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT616822	hsa-miR-1283	HITS-CLIP	23824327
MIRT616821	hsa-miR-3671	HITS-CLIP	23824327
MIRT616820	hsa-miR-607	HITS-CLIP	23824327
MIRT616819	hsa-miR-1305	HITS-CLIP	23824327
MIRT616818	hsa-miR-335-3p	HITS-CLIP	23824327

Transcription factors

Transcription factor	Regulation	Reference
GATA4	Unknown	22303449
ISL1	Unknown	22303449
TBX20	Unknown	22303449

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000132	Process	Establishment of mitotic spindle orientation	IEA
GO:0000278	Process	Mitotic cell cycle	IEA
GO:0001525	Process	Angiogenesis	IEA
GO:0001656	Process	Metanephros development	IEP	18437684
GO:0001759	Process	Organ induction	IEA
GO:0001823	Process	Mesonephros development	IEP	18437684
GO:0001935	Process	Endothelial cell proliferation	IEA
GO:0001938	Process	Positive regulation of endothelial cell proliferation	IEA
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0003338	Process	Metanephros morphogenesis	IEA
GO:0005104	Function	Fibroblast growth factor receptor binding	IDA	11923311
GO:0005111	Function	Type 2 fibroblast growth factor receptor binding	IBA
GO:0005111	Function	Type 2 fibroblast growth factor receptor binding	IPI	19224135
GO:0005515	Function	Protein binding	IPI	12591959, 25241761, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	16597614
GO:0005615	Component	Extracellular space	IEA
GO:0005634	Component	Nucleus	IDA	11923311, 16597614, 17471512
GO:0005737	Component	Cytoplasm	IBA
GO:0005886	Component	Plasma membrane	IDA	16597614
GO:0006935	Process	Chemotaxis	IEA
GO:0007267	Process	Cell-cell signaling	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007431	Process	Salivary gland development	IMP	17213838
GO:0007435	Process	Salivary gland morphogenesis	IEA
GO:0008083	Function	Growth factor activity	IBA
GO:0008083	Function	Growth factor activity	IDA	11923311, 15690149
GO:0008083	Function	Growth factor activity	IEA
GO:0008201	Function	Heparin binding	IDA	11923311
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IBA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IDA	11923311
GO:0008544	Process	Epidermis development	IEA
GO:0008589	Process	Regulation of smoothened signaling pathway	IEA
GO:0009880	Process	Embryonic pattern specification	IEA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0009986	Component	Cell surface	IDA	17959718
GO:0009986	Component	Cell surface	IDA	16597614
GO:0009986	Component	Cell surface	NAS	11923311
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010634	Process	Positive regulation of epithelial cell migration	IDA	17500053
GO:0010634	Process	Positive regulation of epithelial cell migration	IEA
GO:0010838	Process	Positive regulation of keratinocyte proliferation	IDA	17449030
GO:0010838	Process	Positive regulation of keratinocyte proliferation	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0021983	Process	Pituitary gland development	IEA
GO:0022008	Process	Neurogenesis	IBA
GO:0030036	Process	Actin cytoskeleton organization	IDA	17449030
GO:0030154	Process	Cell differentiation	IEA
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IEA
GO:0030324	Process	Lung development	IEA
GO:0030334	Process	Regulation of cell migration	IBA
GO:0030538	Process	Embryonic genitalia morphogenesis	IEA
GO:0030855	Process	Epithelial cell differentiation	IEA
GO:0030857	Process	Negative regulation of epithelial cell differentiation	IEA
GO:0030878	Process	Thyroid gland development	IEA
GO:0030916	Process	Otic vesicle formation	IEA
GO:0030949	Process	Positive regulation of vascular endothelial growth factor receptor signaling pathway	IEA
GO:0031016	Process	Pancreas development	IEA
GO:0031069	Process	Hair follicle morphogenesis	IEA
GO:0031076	Process	Embryonic camera-type eye development	IEA
GO:0032355	Process	Response to estradiol	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0032781	Process	Positive regulation of ATP-dependent activity	IDA	12804770
GO:0032808	Process	Lacrimal gland development	IEA
GO:0032808	Process	Lacrimal gland development	IMP	17213838
GO:0032925	Process	Regulation of activin receptor signaling pathway	IEA
GO:0034394	Process	Protein localization to cell surface	IDA	17449030
GO:0035019	Process	Somatic stem cell population maintenance	IEA
GO:0035108	Process	Limb morphogenesis	IEA
GO:0035265	Process	Organ growth	IEA
GO:0042056	Function	Chemoattractant activity	IBA
GO:0042056	Function	Chemoattractant activity	IDA	9740653, 17449030
GO:0042056	Function	Chemoattractant activity	IEA
GO:0042060	Process	Wound healing	IBA
GO:0042060	Process	Wound healing	IDA	11896977, 19152659
GO:0042246	Process	Tissue regeneration	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0042693	Process	Muscle cell fate commitment	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IBA
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	12804770, 14975937
GO:0043616	Process	Keratinocyte proliferation	IEA
GO:0045739	Process	Positive regulation of DNA repair	IDA	14975937
GO:0045747	Process	Positive regulation of Notch signaling pathway	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045931	Process	Positive regulation of mitotic cell cycle	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046579	Process	Positive regulation of Ras protein signal transduction	IDA	12804770
GO:0046877	Process	Regulation of saliva secretion	IMP	19102732
GO:0048010	Process	Vascular endothelial growth factor receptor signaling pathway	IEA
GO:0048144	Process	Fibroblast proliferation	IEA
GO:0048146	Process	Positive regulation of fibroblast proliferation	IEA
GO:0048286	Process	Lung alveolus development	IEA
GO:0048514	Process	Blood vessel morphogenesis	IEA
GO:0048536	Process	Spleen development	IEA
GO:0048538	Process	Thymus development	IDA	17969154
GO:0048557	Process	Embryonic digestive tract morphogenesis	IEA
GO:0048565	Process	Digestive tract development	IEA
GO:0048566	Process	Embryonic digestive tract development	IEA
GO:0048645	Process	Animal organ formation	IEA
GO:0048730	Process	Epidermis morphogenesis	IEA
GO:0048752	Process	Semicircular canal morphogenesis	IEA
GO:0048754	Process	Branching morphogenesis of an epithelial tube	IDA	17959718
GO:0048807	Process	Female genitalia morphogenesis	IEA
GO:0048808	Process	Male genitalia morphogenesis	IEA
GO:0050671	Process	Positive regulation of lymphocyte proliferation	IDA	19152659
GO:0050673	Process	Epithelial cell proliferation	IDA	19224135
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050674	Process	Urothelial cell proliferation	IDA	11923311
GO:0050677	Process	Positive regulation of urothelial cell proliferation	IDA	11923311
GO:0050677	Process	Positive regulation of urothelial cell proliferation	IDA	11923311
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IDA	15690149
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0050731	Process	Positive regulation of peptidyl-tyrosine phosphorylation	IDA	17449030
GO:0050872	Process	White fat cell differentiation	IEA
GO:0050918	Process	Positive chemotaxis	IBA
GO:0050918	Process	Positive chemotaxis	IDA	9740653
GO:0050918	Process	Positive chemotaxis	IDA	17449030
GO:0050918	Process	Positive chemotaxis	IEA
GO:0050930	Process	Induction of positive chemotaxis	IEA
GO:0051145	Process	Smooth muscle cell differentiation	IEA
GO:0051549	Process	Positive regulation of keratinocyte migration	IDA	17449030, 19152659
GO:0060019	Process	Radial glial cell differentiation	IEA
GO:0060019	Process	Radial glial cell differentiation	ISS
GO:0060054	Process	Positive regulation of epithelial cell proliferation involved in wound healing	NAS	19152659
GO:0060173	Process	Limb development	IEA
GO:0060174	Process	Limb bud formation	IEA
GO:0060425	Process	Lung morphogenesis	IEA
GO:0060428	Process	Lung epithelium development	IDA	9740653
GO:0060430	Process	Lung saccule development	IMP	17071719
GO:0060436	Process	Bronchiole morphogenesis	IEA
GO:0060441	Process	Epithelial tube branching involved in lung morphogenesis	IEA
GO:0060445	Process	Branching involved in salivary gland morphogenesis	IEA
GO:0060447	Process	Bud outgrowth involved in lung branching	IDA	9740653
GO:0060449	Process	Bud elongation involved in lung branching	IEA
GO:0060496	Process	Mesenchymal-epithelial cell signaling involved in lung development	IEA
GO:0060510	Process	Type II pneumocyte differentiation	IEA
GO:0060513	Process	Prostatic bud formation	IEA
GO:0060541	Process	Respiratory system development	IEA
GO:0060594	Process	Mammary gland specification	IEA
GO:0060595	Process	Fibroblast growth factor receptor signaling pathway involved in mammary gland specification	IEA
GO:0060615	Process	Mammary gland bud formation	IEA
GO:0060661	Process	Submandibular salivary gland formation	IEA
GO:0060664	Process	Epithelial cell proliferation involved in salivary gland morphogenesis	IEA
GO:0060665	Process	Regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	IEA
GO:0060667	Process	Branch elongation involved in salivary gland morphogenesis	IEA
GO:0060879	Process	Semicircular canal fusion	IEA
GO:0060915	Process	Mesenchymal cell differentiation involved in lung development	IEA
GO:0061033	Process	Secretion by lung epithelial cell involved in lung growth	IDA	10541313
GO:0061115	Process	Lung proximal/distal axis specification	IEA
GO:0070075	Process	Tear secretion	IMP	19102732
GO:0070343	Process	White fat cell proliferation	IEA
GO:0070352	Process	Positive regulation of white fat cell proliferation	IEA
GO:0070371	Process	ERK1 and ERK2 cascade	IDA	17959718
GO:0070371	Process	ERK1 and ERK2 cascade	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0070384	Process	Harderian gland development	IEA
GO:0071338	Process	Positive regulation of hair follicle cell proliferation	IDA	16086254
GO:0072089	Process	Stem cell proliferation	IEA
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IEA
GO:0097192	Process	Extrinsic apoptotic signaling pathway in absence of ligand	IEA
GO:1900087	Process	Positive regulation of G1/S transition of mitotic cell cycle	IDA	17188682
GO:1902178	Process	Fibroblast growth factor receptor apoptotic signaling pathway	IEA
GO:2000647	Process	Negative regulation of stem cell proliferation	IEA
GO:2000648	Process	Positive regulation of stem cell proliferation	IEA
GO:2001240	Process	Negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IEA

Other IDs

• MIM: 602115
• HGNC: 3666
• e!Ensembl: ENSG00000070193

Protein

• UniProt ID: O15520
• Protein name: Fibroblast growth factor 10 (FGF-10) (Keratinocyte growth factor 2)
• Protein function: Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation. Required for normal branching morphogenesis. May play a role in wound healing.
• PDB: 1NUN
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00167	FGF	78 → 202	Fibroblast growth factor	Domain

• Sequence:

  MWKWILTHCASAFPHLPGCCCCCFLLLFLVSSVPVTCQALGQDMVSPEATNSSSSSFSSP
  SSAGRHVRSYNHLQGDVRWRKLFSFTKYFLKIEKNGKVSGTKKENCPYSILEITSVEIGV
  VAVKAINSNYYLAMNKKGKLYGSKEFNNDCKLKERIEENGYNTYASFNWQHNGRQMYVAL
  NGKGAPRRGQKTRRKNTSAHFLPMVVHS

• Sequence length: 208

Pathways

KEGG:

MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
Calcium signaling pathway
PI3K-Akt signaling pathway
Regulation of actin cytoskeleton
Pathways in cancer
Chemical carcinogenesis - receptor activation
Melanoma
Breast cancer
Gastric cancer

Reactome:

PI3K Cascade
PIP3 activates AKT signaling
FGFR1b ligand binding and activation
FGFR2b ligand binding and activation
Activated point mutants of FGFR2
Constitutive Signaling by Aberrant PI3K in Cancer
Phospholipase C-mediated cascade: FGFR1
Phospholipase C-mediated cascade; FGFR2
Downstream signaling of activated FGFR1
SHC-mediated cascade:FGFR1
PI-3K cascade:FGFR1
FRS-mediated FGFR1 signaling
PI-3K cascade:FGFR2
SHC-mediated cascade:FGFR2
FRS-mediated FGFR2 signaling
Negative regulation of FGFR1 signaling
Negative regulation of FGFR2 signaling
Signaling by FGFR2 in disease
FGFRL1 modulation of FGFR1 signaling
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
Congenital absence of salivary gland	Likely pathogenic; Pathogenic	rs2478349923, rs104893884, rs104893887, rs104893889, rs2478544218	RCV002463401 RCV000007964 RCV000007968 RCV000007971 RCV004594805	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lacrimoauriculodentodigital syndrome 3	Pathogenic	rs104893885, rs104893886, rs104893887, rs2478542924, rs2478542933	RCV003151710 RCV003151711 RCV003151712 RCV003445414 RCV003493405	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Levy-Hollister syndrome	Pathogenic; Likely pathogenic	rs1446723373, rs2478349923, rs1554035469, rs1554035757, rs1554035763, rs1554040361, rs1554040364, rs1554040396	RCV002471161 RCV002463401 RCV000659647 RCV000659645 RCV000659644 RCV000659643 RCV000659641 RCV000659640	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lung adenocarcinoma	Pathogenic	rs768184879	RCV003129628	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Orofacial cleft 1	Likely pathogenic	rs1740186895	RCV003321462	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APLASIA OF LACRIMAL AND SALIVARY GLANDS	—	CTD, Disgenet, GenCC, HPO, Orphanet CTD, Disgenet, GenCC, HPO, Orphanet CTD, Disgenet, GenCC, HPO, Orphanet CTD, Disgenet, GenCC, HPO, Orphanet CTD, Disgenet, GenCC, HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT LIP	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT UPPER LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE UNILATERAL CLEFT LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS, MULTIPLE TYPE S	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FGF10-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERSTITIAL LUNG DISEASE SPECIFIC TO CHILDHOOD	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LACRIMOAURICULODENTODIGITAL SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LADD SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alacrima	Alacrima	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	26830138		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	24002438		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	17236193		★☆☆☆☆ Found in Text Mining only
Apert syndrome	Apert Syndrome	BEFREE	19581825, 27339175		★☆☆☆☆ Found in Text Mining only
Aplasia of Lacrimal and Salivary Glands	Aplasia Of Lacrimal And Salivary Glands	BEFREE	16476029, 19102732, 19376597, 26955834, 27742760		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aplasia of Lacrimal and Salivary Glands	Aplasia Of Lacrimal And Salivary Glands	ORPHANET_DG	17213838		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aplasia of lacrimal and salivary glands	Aplasia Of Lacrimal And Salivary Glands	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aplasia of Lacrimal and Salivary Glands	Aplasia of lacrimal and salivary glands	Pubtator	19102732	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aplasia of Lacrimal and Salivary Glands	Aplasia Of Lacrimal And Salivary Glands	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aplasia of Lacrimal and Salivary Glands	Aplasia Of Lacrimal And Salivary Glands	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aplasia of Lacrimal and Salivary Glands	Aplasia Of Lacrimal And Salivary Glands	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	39342401	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	19621416		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	21996756	Associate	★☆☆☆☆ Found in Text Mining only
Autonomic nervous system disorders	Autonomic Central Nervous System Diseases	BEFREE	25029093		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	10503993		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	37423059	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15208658, 19410332, 21767389, 27640304, 29372690		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	18438407		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	21767389, 22665522, 23527311, 27640304, 35668376	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	17071719, 27770432, 28861146, 30319693, 30429870, 30566624, 31144392		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	29722558	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21569311		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	37369494	Associate	★☆☆☆☆ Found in Text Mining only
Chronic lung disease	Lung Diseases	BEFREE	27770432		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	21742743, 30319693, 30429870		★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	19137569, 22074045	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	11598623	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31611737		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	11598623	Associate	★☆☆☆☆ Found in Text Mining only
Common ventricle	Complete Atrioventricular Canal Defect	BEFREE	31013439		★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	16984257		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	31753611		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	16687131		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	16687131		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	BEFREE	21222001		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	BEFREE	29732364		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of radius	Congenital Hypoplasia Of Radius	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of radius	Congenital Hypoplasia Of Radius	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	GENOMICS_ENGLAND_DG	9988217		★☆☆☆☆ Found in Text Mining only
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	32664970	Associate	★☆☆☆☆ Found in Text Mining only
Coronal hypospadias	Coronal hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	29215649	Associate	★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	31056475		★☆☆☆☆ Found in Text Mining only
Cystic Adenomatoid Malformation of Lung, Congenital	Congenital Cystic Adenomatoid Malformation Of Lung	BEFREE	18558180, 24004862		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	29467455		★☆☆☆☆ Found in Text Mining only
Cystitis Interstitial	Interstitial cystitis	Pubtator	16597614	Associate	★☆☆☆☆ Found in Text Mining only
Dacryocystitis	Dacryocystitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	30639323		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	39342401	Associate	★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	Digeorge syndrome	Pubtator	23121717	Associate	★☆☆☆☆ Found in Text Mining only
Duodenal atresia	Duodenal Atresia	BEFREE	17468828, 30473704		★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	BEFREE	25029093		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	12574212		★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	BEFREE	17482184		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	17482184	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Atresia	Esophageal Atresia	BEFREE	29732364		★☆☆☆☆ Found in Text Mining only
Esophageal atresia with or without tracheoesophageal fistula	Tracheoesophageal fistula	BEFREE	29732364		★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	29722558	Associate	★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	24508317	Associate	★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	34383782	Inhibit	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	35720300	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss, Mixed Conductive-Sensorineural	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	28939119		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29758198		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	19621416		★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	BEFREE	15086024, 17264867, 31718875		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	27869174, 30319693, 30487814		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	27869174	Inhibit	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	29722558, 30155985	Associate	★☆☆☆☆ Found in Text Mining only
Interstitial Cystitis	Interstitial Cystitis	LHGDN	16597614		★☆☆☆☆ Found in Text Mining only
Intestinal Atresia	Intestinal Atresia	BEFREE	17468828		★☆☆☆☆ Found in Text Mining only
Isolated hypoplasia of the right ventricle	Isolated right ventricular hypoplasia	BEFREE	16687131		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	30532765		★☆☆☆☆ Found in Text Mining only
Lacrimal Puncta, Absence of	Absent lacrimal punctum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lacrimoauriculodentodigital syndrome	Lacrimoauriculodentodigital Syndrome	UNIPROT_DG	16501574, 16630169		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lacrimoauriculodentodigital syndrome	Lacrimoauriculodentodigital Syndrome	BEFREE	16630169, 17682060, 18056630		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lacrimoauriculodentodigital syndrome	Lacrimoauriculodentodigital Syndrome	GENOMICS_ENGLAND_DG	16630169, 9988217		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lacrimoauriculodentodigital syndrome	Lacrimoauriculodentodigital Syndrome	ORPHANET_DG	16630169		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lacrimoauriculodentodigital syndrome	Lacrimoauriculodentodigital Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lacrimoauriculodentodigital syndrome	Lacrimoauriculodentodigital Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lacrimoauriculodentodigital syndrome	Lacrimoauriculodentodigital Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	36509141	Associate	★☆☆☆☆ Found in Text Mining only
Limbal stem cell deficiency	Limbal stem cell deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	21742743, 27770432, 30319693, 30429870, 30930931		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	29722558, 30639323	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	21569311, 36140747	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26268776	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15208658, 19410332, 21767389, 27640304, 29372690		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	18438407		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	21569311		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	18594526, 30425728		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	GWASDB_DG	21743467		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	21743467		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30761180		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30405704, 30405705, 30505318, 30761180		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	18438407		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	18438407		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	23527311, 27640304		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	18438407		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	29233981		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	23599340, 24265547, 31021460		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	24265547, 38287803	Associate	★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15208658, 20083228, 24320134, 31611737		★☆☆☆☆ Found in Text Mining only
Nephrosclerosis	Nephrosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29233981, 30992111		★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 2	Oculocutaneous albinism	Pubtator	24004862	Associate	★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	27640304		★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	28232668	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	18594526, 30425728		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	30405704		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	18594526		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	18594526	Associate	★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	24582960		★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	BEFREE	15086024, 17264867, 31718875		★☆☆☆☆ Found in Text Mining only
Peritoneal Fibrosis	Peritoneal Fibrosis	BEFREE	31431501		★☆☆☆☆ Found in Text Mining only
Pleuropulmonary blastoma	Pleuropulmonary blastoma	BEFREE	24004862		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	GWASCAT_DG	21743467, 29892016		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	BEFREE	30761180		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	10503993	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	21518863		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	15368475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	21743467		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	27787597	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	29722558, 40192657	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	33656381	Inhibit	★☆☆☆☆ Found in Text Mining only
Radial polydactyly	Radial Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent erosion of cornea	Erosion Of Cornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	28919491		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	31256336		★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	24265547, 31021460		★☆☆☆☆ Found in Text Mining only
Simple syndactyly of fingers - first web	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Single Ventricle Defect	Single Ventricle Defect	BEFREE	31013439		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	24582960		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	25743022, 26268776	Associate	★☆☆☆☆ Found in Text Mining only
Tendinopathy	Tendinopathy	BEFREE	24661680		★☆☆☆☆ Found in Text Mining only
Tracheal Stenosis	Tracheal Stenosis	BEFREE	19581825		★☆☆☆☆ Found in Text Mining only
Uhl anomaly	Uhl anomaly	BEFREE	16687131		★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	16313398, 23460641		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Diseases	Urinary bladder diseases	Pubtator	16597614	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	23949743	Associate	★☆☆☆☆ Found in Text Mining only
VACTERL Association	VACTERL Association	BEFREE	18587586		★☆☆☆☆ Found in Text Mining only