Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2261
Gene name Gene Name - the full gene name approved by the HGNC.	Fibroblast growth factor receptor 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	FGFR3
Synonyms (NCBI Gene) Gene synonyms aliases	ACH, CD333, CEK2, HSFGFR3EX, JTK4
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4p16.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and

Show/Hide all(50)

SNP ID	Visualize variation	Clinical significance	Consequence
rs4647924	C>A,G,T	Not-provided, uncertain-significance, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs28928868	G>C,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs28931614	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs28931615	C>A,T	Pathogenic, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs28933068	C>A,G,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, synonymous variant
rs75790268	G>T	Pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs77722678	A>C,G	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs78311289	A>C,G	Pathogenic, uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs80053154	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121913101	T>A,C,G	Pathogenic	Stop lost, coding sequence variant, terminator codon variant, missense variant, non coding transcript variant
rs121913103	A>C,G,T	Pathogenic	Stop lost, coding sequence variant, stop gained, terminator codon variant, missense variant, non coding transcript variant
rs121913105	A>C,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121913111	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs121913112	G>A,C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121913113	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121913114	A>G,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121913115	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121913116	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121913479	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs121913480	G>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121913482	C>T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121913483	C>A,G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121913484	A>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs121913485	A>G	Pathogenic, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs139020690	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs139707740	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs140594137	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs148104605	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs199544087	G>A,C,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs267606808	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs267606809	T>C,G	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs367973461	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs397515514	G>T	Pathogenic	Stop lost, coding sequence variant, non coding transcript variant, terminator codon variant, synonymous variant
rs587776836	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587777857	C>A,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs587778769	A>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs587778773	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs587778775	G>A,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs587778776	T>A,G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs587778801	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, synonymous variant
rs587778811	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, synonymous variant
rs587778816	C>A,G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs587778817	A>G,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs587779383	A>C,G,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs750641928	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs774517056	C>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, missense variant
rs886043613	C>T	Uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1057517964	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant, intron variant
rs1064796266	GGCTCGCGGACGTGAAGGGC>CCCTG	Likely-pathogenic	3 prime UTR variant, stop lost, coding sequence variant, non coding transcript variant, terminator codon variant, inframe indel
rs1453271838	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant

Show/Hide all(121)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003419	hsa-miR-100-5p	Microarray, qRT-PCR, Western blot	19396866
MIRT004243	hsa-miR-99a-5p	Luciferase reporter assay, qRT-PCR, Western blot	19843843
MIRT003419	hsa-miR-100-5p	Luciferase reporter assay, qRT-PCR, Western blot	19843843
MIRT004243	hsa-miR-99a-5p	Reporter assay;Western blot	21383697
MIRT030099	hsa-miR-26b-5p	Microarray	19088304
MIRT003419	hsa-miR-100-5p	qRT-PCR, Western blot	23778488
MIRT003419	hsa-miR-100-5p	Luciferase assay, QRTPCR, Western blotting	23778527
MIRT438420	hsa-miR-425-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23174883
MIRT438419	hsa-miR-152-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23174883
MIRT438418	hsa-miR-24-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23174883
MIRT004243	hsa-miR-99a-5p	Luciferase reporter assay, qRT-PCR, Western blot	24456664
MIRT004243	hsa-miR-99a-5p	Luciferase reporter assay, qRT-PCR, Western blot	24456664
MIRT438420	hsa-miR-425-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23174883
MIRT438419	hsa-miR-152-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23174883
MIRT438418	hsa-miR-24-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23174883
MIRT004243	hsa-miR-99a-5p	Luciferase reporter assay, qRT-PCR, Western blot	24456664
MIRT004243	hsa-miR-99a-5p	Luciferase reporter assay, qRT-PCR, Western blot	24456664
MIRT611038	hsa-miR-8485	HITS-CLIP	23313552
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT629080	hsa-miR-8064	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT629080	hsa-miR-8064	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT629080	hsa-miR-8064	HITS-CLIP	23824327
MIRT629079	hsa-miR-4764-5p	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT629080	hsa-miR-8064	HITS-CLIP	23824327
MIRT629079	hsa-miR-4764-5p	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT003419	hsa-miR-100-5p	Luciferase reporter assay	26604796
MIRT003419	hsa-miR-100-5p	Luciferase reporter assay	26604796
MIRT003419	hsa-miR-100-5p	Luciferase reporter assay	26604796
MIRT003419	hsa-miR-100-5p	Luciferase reporter assay	26604796
MIRT003419	hsa-miR-100-5p	Luciferase reporter assay	26604796
MIRT003419	hsa-miR-100-5p	Luciferase reporter assay	26604796
MIRT629080	hsa-miR-8064	HITS-CLIP	27418678
MIRT629080	hsa-miR-8064	HITS-CLIP	27418678
MIRT611038	hsa-miR-8485	HITS-CLIP	27418678
MIRT611038	hsa-miR-8485	HITS-CLIP	27418678
MIRT611038	hsa-miR-8485	HITS-CLIP	27418678
MIRT611038	hsa-miR-8485	HITS-CLIP	27418678
MIRT611038	hsa-miR-8485	HITS-CLIP	27418678
MIRT611038	hsa-miR-8485	HITS-CLIP	27418678
MIRT737178	hsa-miR-99a-3p	Luciferase reporter assay, RNA-seq, qRT-PCR	32038996
MIRT611038	hsa-miR-8485	HITS-CLIP	23313552
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT629080	hsa-miR-8064	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT629080	hsa-miR-8064	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT629080	hsa-miR-8064	HITS-CLIP	23824327
MIRT629079	hsa-miR-4764-5p	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT629080	hsa-miR-8064	HITS-CLIP	23824327
MIRT629079	hsa-miR-4764-5p	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT996140	hsa-miR-101	CLIP-seq
MIRT996141	hsa-miR-1180	CLIP-seq
MIRT996142	hsa-miR-132	CLIP-seq
MIRT996143	hsa-miR-1470	CLIP-seq
MIRT996144	hsa-miR-194	CLIP-seq
MIRT996145	hsa-miR-212	CLIP-seq
MIRT996146	hsa-miR-4267	CLIP-seq
MIRT996147	hsa-miR-4452	CLIP-seq
MIRT996148	hsa-miR-4484	CLIP-seq
MIRT996149	hsa-miR-4664-3p	CLIP-seq
MIRT996150	hsa-miR-4667-3p	CLIP-seq
MIRT996151	hsa-miR-4672	CLIP-seq
MIRT996152	hsa-miR-4680-3p	CLIP-seq
MIRT996153	hsa-miR-4691-5p	CLIP-seq
MIRT996154	hsa-miR-4704-5p	CLIP-seq
MIRT996155	hsa-miR-4713-3p	CLIP-seq
MIRT996156	hsa-miR-4789-5p	CLIP-seq
MIRT996157	hsa-miR-486-3p	CLIP-seq
MIRT996158	hsa-miR-548ag	CLIP-seq
MIRT996159	hsa-miR-548ai	CLIP-seq
MIRT996160	hsa-miR-548an	CLIP-seq
MIRT996161	hsa-miR-548m	CLIP-seq
MIRT996162	hsa-miR-642a	CLIP-seq
MIRT996163	hsa-miR-766	CLIP-seq
MIRT996164	hsa-miR-802	CLIP-seq
MIRT996165	hsa-miR-100	CLIP-seq
MIRT996166	hsa-miR-3921	CLIP-seq
MIRT996167	hsa-miR-4653-5p	CLIP-seq
MIRT996168	hsa-miR-593	CLIP-seq
MIRT996169	hsa-miR-622	CLIP-seq
MIRT996170	hsa-miR-99a	CLIP-seq
MIRT996171	hsa-miR-99b	CLIP-seq
MIRT996172	hsa-miR-1226	CLIP-seq
MIRT996173	hsa-miR-15a	CLIP-seq
MIRT996174	hsa-miR-15b	CLIP-seq
MIRT996175	hsa-miR-16	CLIP-seq
MIRT996176	hsa-miR-195	CLIP-seq
MIRT996177	hsa-miR-214	CLIP-seq
MIRT996178	hsa-miR-3619-5p	CLIP-seq
MIRT996179	hsa-miR-424	CLIP-seq
MIRT996180	hsa-miR-4530	CLIP-seq
MIRT996181	hsa-miR-4687-3p	CLIP-seq
MIRT996182	hsa-miR-497	CLIP-seq
MIRT996183	hsa-miR-627	CLIP-seq
MIRT996184	hsa-miR-634	CLIP-seq
MIRT996185	hsa-miR-761	CLIP-seq
MIRT996186	hsa-miR-767-5p	CLIP-seq
MIRT996187	hsa-miR-924	CLIP-seq
MIRT1995378	hsa-miR-4254	CLIP-seq

Transcription factors

Show/Hide all(5)

Transcription factor	Regulation	Reference
SHOX	Activation	21273290
SP1	Unknown	22334592
SP3	Unknown	22334592
SP4	Unknown	22334592
STAT1	Repression	16410555

Show/Hide all(68)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	TAS	10918587
GO:0000166	Function	Nucleotide binding	IEA
GO:0001501	Process	Skeletal system development	TAS	8601314
GO:0001503	Process	Ossification	IEA
GO:0001958	Process	Endochondral ossification	TAS	15748888
GO:0002062	Process	Chondrocyte differentiation	TAS	15748888
GO:0003416	Process	Endochondral bone growth	TAS	15748888
GO:0004672	Function	Protein kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IDA	11294897
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IEA
GO:0005007	Function	Fibroblast growth factor receptor activity	IBA
GO:0005007	Function	Fibroblast growth factor receptor activity	IEA
GO:0005007	Function	Fibroblast growth factor receptor activity	IMP	8663044
GO:0005007	Function	Fibroblast growth factor receptor activity	TAS	10918587
GO:0005515	Function	Protein binding	IPI	14732692, 16169070, 22939624, 25036637, 32814053, 33961781, 35384245
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IDA	18061161
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	8663044, 18061161
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	10918587
GO:0005925	Component	Focal adhesion	TAS	15748888
GO:0006915	Process	Apoptotic process	IEA
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IMP	11294897
GO:0007267	Process	Cell-cell signaling	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IGI	8663044
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	8663044, 11294897
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IBA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IDA	8663044
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IEA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IGI	8663044
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	TAS	10918587
GO:0009986	Component	Cell surface	IEA
GO:0010518	Process	Positive regulation of phospholipase activity	IMP	17561467
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0017134	Function	Fibroblast growth factor binding	IBA
GO:0017134	Function	Fibroblast growth factor binding	IDA	8663044
GO:0017134	Function	Fibroblast growth factor binding	IEA
GO:0017134	Function	Fibroblast growth factor binding	IPI	12815063
GO:0030133	Component	Transport vesicle	IDA	18061161
GO:0030282	Process	Bone mineralization	ISS	20582225
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0035988	Process	Chondrocyte proliferation	TAS	15748888
GO:0042531	Process	Positive regulation of tyrosine phosphorylation of STAT protein	IMP	17561467
GO:0042802	Function	Identical protein binding	IPI	14732692, 23972473, 24120763
GO:0043235	Component	Receptor complex	IBA
GO:0043410	Process	Positive regulation of MAPK cascade	IBA
GO:0043410	Process	Positive regulation of MAPK cascade	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IMP	11294897
GO:0048640	Process	Negative regulation of developmental growth	ISS	20582225
GO:0051216	Process	Cartilage development	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	11294897
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	TAS	15748888
GO:0060349	Process	Bone morphogenesis	IEA
GO:0060349	Process	Bone morphogenesis	ISS	20582225
GO:0060349	Process	Bone morphogenesis	TAS	15748888
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IMP	11294897
GO:0070977	Process	Bone maturation	ISS	20582225
GO:1902178	Process	Fibroblast growth factor receptor apoptotic signaling pathway	IMP	17561467

MIM	HGNC	e!Ensembl
134934	3690	ENSG00000068078

Protein

UniProt ID

P22607

Protein name

Fibroblast growth factor receptor 3 (FGFR-3) (EC 2.7.10.1) (CD antigen CD333)

Protein function

Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation and apoptosis. Plays an essential role in the regulation of chondrocy

PDB

1RY7 , 2LZL , 4K33 , 6LVM , 6PNX , 7DHL , 7YSU , 8UDT , 8UDU , 8UDV , 9CD7

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07679	I-set	160 → 245	Immunoglobulin I-set domain	Domain
PF13927	Ig_3	252 → 343		Domain
PF18123	FGFR3_TM	369 → 399	Fibroblast growth factor receptor 3 transmembrane domain	Domain
PF07714	PK_Tyr_Ser-Thr	472 → 748	Protein tyrosine and serine/threonine kinase	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain, kidney and testis. Very low or no expression in spleen, heart, and muscle. In 20- to 22-week old fetuses it is expressed at high level in kidney, lung, small intestine and brain, and to a lower degree in spleen, liv

Sequence

MGAPACALALCVAVAIVAGASSESLGTEQRVVGRAAEVPGPEPGQQEQLVFGSGDAVELS
CPPPGGGPMGPTVWVKDGTGLVPSERVLVGPQRLQVLNASHEDSGAYSCRQRLTQRVLCH
FSVRVTDAPSSGDDEDGEDEAEDTGVDTGAPYWTRPERMDKKLLAVPAANTVRFRCPAAG
NPTPSISWLKNGREFRGEHRIGGIKLRHQQWSLVMESVVPSDRGNYTCVVENKFGSIRQT
YTLDVLERSPHRPILQAGLPANQTAVLGSDVEFHCKVYSDAQPHIQWLKHVEVNGSKVGP
DGTPYVTVLKTAGANTTDKELEVLSLHNVTFEDAGEYTCLAGNSIGFSHHSAWLVVLPAE
EELVEADEAGSVYAGILSYGVGFFLFILVVAAVTLCRLRSPPKKGLGSPTVHKISRFPLK
RQVSLESNASMSSNTPLVRIARLSSGEGPTLANVSELELPADPKWELSRARLTLGKPLGE
GCFGQVVMAEAIGIDKDRAAKPVTVAVKMLKDDATDKDLSDLVSEMEMMKMIGKHKNIIN
LLGACTQGGPLYVLVEYAAKGNLREFLRARRPPGLDYSFDTCKPPEEQLTFKDLVSCAYQ
VARGMEYLASQKCIHRDLAARNVLVTEDNVMKIADFGLARDVHNLDYYKKTTNGRLPVKW
MAPEALFDRVYTHQSDVWSFGVLLWEIFTLGGSPYPGIPVEELFKLLKEGHRMDKPANCT
HDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLTVTSTDEYLDLSAPFEQYSPGGQDTPSS
SSSGDDSVFAHDLLPPAPPSSGGSRT

Sequence length

806

Interactions

View interactions

	KEGG		Reactome
	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway Endocytosis PI3K-Akt signaling pathway Signaling pathways regulating pluripotency of stem cells Regulation of actin cytoskeleton Pathways in cancer MicroRNAs in cancer Bladder cancer Central carbon metabolism in cancer		PI3K Cascade PIP3 activates AKT signaling Signaling by activated point mutants of FGFR3 FGFR3b ligand binding and activation FGFR3c ligand binding and activation FGFR3 mutant receptor activation t(4;14) translocations of FGFR3 Constitutive Signaling by Aberrant PI3K in Cancer Phospholipase C-mediated cascade; FGFR3 SHC-mediated cascade:FGFR3 FRS-mediated FGFR3 signaling PI-3K cascade:FGFR3 Negative regulation of FGFR3 signaling RAF/MAP kinase cascade PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling Signaling by FGFR3 fusions in cancer Signaling by FGFR3 point mutants in cancer

Show/Hide Causal Diseases (13)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Achondroplasia	achondroplasia	rs28931614, rs121913116, rs121913482, rs121913479, rs121913483, rs77722678, rs75790268, rs28933068, rs121913114, rs121913103	N/A
Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome	camptodactyly-tall stature-scoliosis-hearing loss syndrome	rs774517056, rs121913113, rs587777857	N/A
Connective Tissue Disease	Connective tissue disorder	rs121913482, rs28931614, rs121913483, rs28933068	N/A
craniosynostosis syndrome	Craniosynostosis syndrome	rs28931615, rs4647924	N/A
Hypochondroplasia	hypochondroplasia	rs77722678, rs28931614, rs1057517964, rs28928868, rs78311289, rs28933068, rs4647924, rs121913114, rs587778775, rs121913115, rs121913105, rs121913116	N/A
Lacrimoauriculodentodigital Syndrome	Lacrimoauriculodentodigital syndrome 2	rs1453271838	N/A
Muenke Syndrome	muenke syndrome	rs1721198491, rs28931614, rs4647924	N/A
Thanatophoric Dysplasia	thanatophoric dysplasia type 1	rs121913485, rs121913483, rs121913479, rs121913484, rs121913101, rs121913103, rs397515514, rs78311289, rs121913105, rs121913482	N/A
Cervical Cancer	cervical cancer	rs121913483, rs121913482	N/A
Larsen Syndrome	larsen syndrome	rs28933068	N/A
Multiple myeloma	multiple myeloma	rs78311289, rs121913482	N/A
neoplasm	Neoplasm	rs121913479	N/A
Saethre-Chotzen Syndrome	saethre-chotzen syndrome	rs4647924	N/A

Show/Hide Unknown Diseases (8)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia-microphthalmia syndrome	N/A	N/A	ClinVar
Brachycephaly	isolated brachycephaly	N/A	N/A	GenCC
Diabetes	Type 2 diabetes (PheCode 250.2), Type 2 diabetes	N/A	N/A	GWAS
Hepatoblastoma	hepatoblastoma	N/A	N/A	ClinVar
Hodgkin Lymphoma	Classic Hodgkin lymphoma	N/A	N/A	ClinVar
Neuroblastoma	neuroblastoma	N/A	N/A	ClinVar
Plagiocephaly	isolated plagiocephaly	N/A	N/A	GenCC
Sarcoma	sarcoma	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (247)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Abnormalities Drug Induced	Associate	27370225
Acanthosis Nigricans	Associate	10053006, 10890204, 11039354, 16384584, 16778799, 16841094, 23437153, 26244699, 31016899, 8880573, 9151669
Achondroplasia	Associate	10053006, 10712195, 10890199, 10979354, 11055896, 11904459, 12368206, 12397172, 12929929, 16434832, 16766665, 16778799, 16841094, 16950849, 17320202 View all (48 more)
Acrocephalosyndactylia	Associate	14629875, 17525745, 22879958, 31016899, 8880573, 9279753
Actinic cheilitis	Associate	19327639
Adenocarcinoma	Associate	26536055, 29110841
Adenocarcinoma of Lung	Associate	26486077, 29850625, 34160364
Alopecia	Associate	37956738
Arthritis Rheumatoid	Associate	39342401, 40594127
Astrocytoma	Associate	28379477
beta Thalassemia	Associate	33340121
Biliary Tract Neoplasms	Associate	36257294
Bone Diseases	Associate	21324899
Bone Diseases Developmental	Associate	11781872, 25311528, 26415661
Bone Diseases Metabolic	Associate	37192015
Bone Marrow Diseases	Associate	25311528
Brachydactyly	Associate	24075385
Brain Neoplasms	Associate	35616216
Breast Neoplasms	Associate	20126581, 24548884, 25071007, 26431494, 30745300, 31754145, 31987043, 32348852, 32381997, 32852708, 36011273, 36470901
Brenner Tumor	Associate	33077920
Brucellosis Bovine	Associate	37846159
Calcinosis Cutis	Associate	37682528
Cap Myopathy	Associate	15655558
Carcinogenesis	Associate	16149130, 23650517, 23972473, 25311528, 25686244, 28855393, 35991125, 38609519
Carcinoma	Associate	22203473
Carcinoma Basal Cell	Associate	15026322, 27029078
Carcinoma Embryonal	Associate	23784824
Carcinoma Hepatocellular	Associate	16149130, 32161315, 32378800, 33097695, 36179047
Carcinoma in Situ	Stimulate	16965395
Carcinoma in Situ	Associate	23784824
Carcinoma Neuroendocrine	Associate	34247193
Carcinoma Non Small Cell Lung	Associate	26486077, 27870574, 29110841, 35066105, 35950895, 36142417
Carcinoma Pancreatic Ductal	Associate	26318045
Carcinoma Papillary	Associate	18072261, 31028363, 31278255, 33408272, 36812689, 36906071, 37558130
Carcinoma Renal Cell	Associate	17384684, 25071007, 31098421
Carcinoma Small Cell	Associate	35662501
Carcinoma Squamous Cell	Associate	19327639, 24323028, 25556475, 25589618, 26486077, 27154171, 29980281, 32596330, 34160364, 34851968
Carcinoma Transitional Cell	Associate	21264819
Cartilage Diseases	Associate	27701424, 36227956
CATSHL syndrome	Associate	26415661, 37990933
Chemical and Drug Induced Liver Injury	Associate	29110841
Cholangiocarcinoma	Associate	28255027, 28445152, 32596330, 35986087, 36190545, 36462464
Chordoma	Associate	24445144
Chromosome 14 trisomy	Associate	17785202
Cirrhosis Familial	Associate	36190545
Clear cell metastatic renal cell carcinoma	Associate	29517810, 32304281, 32753285, 32847703, 33323389, 39366934
Colorectal Neoplasms	Associate	19901323, 20234367, 21356388, 24619956, 28675510, 31729423, 31782259
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	33186471
Congenital Abnormalities	Associate	22879958, 37806643
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	19855393
Constriction Pathologic	Associate	37076826
Costello Syndrome	Associate	30355600
Craniocerebral Trauma	Associate	24075385
Craniofacial Dysostosis	Associate	16384584, 16778799, 23437153, 26244699, 31016899, 8880573, 9151669
Craniosynostoses	Associate	14629875, 18000976, 19327639, 19898608, 20592905, 20643727, 24578066, 31111620, 9042914, 9279753, 9279764, 9682222, 9784595, 9950359
Crouzon Syndrome With Acanthosis Nigricans	Associate	14969379
Cutis Gyrata Syndrome of Beare And Stevenson	Associate	17525745, 9733036
Death	Associate	31755953
Dentin dysplasia type 1	Associate	19789973
Depressive Disorder	Associate	39922722
Depressive Disorder Major	Associate	20386568
Dermatofibrosarcoma	Associate	23614918
Developmental Disabilities	Associate	10053006, 16778799, 36358993
Diabetes Mellitus Type 2	Associate	39342401
Diarrhea	Associate	37956738
Disease Progression	Associate	29700339
Distal Myopathies	Associate	24397339
Down Syndrome	Associate	29361062
Dwarfism	Associate	10890199, 17320202, 21324899, 22529939, 23056398, 23972473, 24397339, 32335626, 9784595
Dwarfism Pituitary	Associate	15625620, 36714562
Dyskinesia Drug Induced	Associate	10053006, 33520059
Ellis Van Creveld Syndrome	Associate	8661097
Emanuel syndrome	Stimulate	15198734
Endometrial Neoplasms	Associate	29588307, 32596330
Endometrial Stromal Tumors	Associate	33077922
Enhanced S Cone Syndrome	Associate	36071243
Ependymoma	Associate	28468611
Epidermal Nevus	Associate	21639936, 25928347, 28434888
Epidermolysis bullosa simplex Ogna type	Associate	28675510
Epilepsies Partial	Associate	30220708
Epilepsy Temporal Lobe	Associate	29170271
Epiphyseal dysplasia multiple 2	Associate	9258750
Esophageal Neoplasms	Associate	26487184
Esophageal Squamous Cell Carcinoma	Associate	25535896, 26487184, 32908901, 33381388
Esthesioneuroblastoma Olfactory	Associate	28775129
Fetal Diseases	Associate	31299979, 33340121, 37875969
Fibular hypoplasia and complex brachydactyly	Associate	36462464
Flaujeac factor deficiency	Associate	27370225
Florid cemento osseous dysplasia	Associate	36707318
Ganglioglioma	Associate	36647073
Gastrointestinal Stromal Tumors	Associate	25432174, 31948066
Genetic Diseases Inborn	Associate	16778799, 16841094, 27812792, 40596606
Glioblastoma	Associate	23409016, 27829236, 28976058, 29361062, 31290679, 32949176, 33168106, 33853673, 35151844, 36002559, 36194351, 36647073, 39357189
Glioma	Associate	27829236, 28379477, 28468611, 28976058, 29718398, 32413119, 32949176, 34160364, 35344029, 36462464, 36647073
Glioma	Inhibit	27852048
Growth Disorders	Associate	11781872, 23437153, 27370225, 33270637, 34740356, 35250876, 36714562, 9321756, 9784595
Head and Neck Neoplasms	Associate	25589618, 28525363
Hearing Loss	Associate	26415661
Hearing Loss Bilateral	Associate	11039354
Hearing Loss Sensorineural	Associate	18000976, 9042914
Hecht Scott syndrome	Associate	31299979
HEM dysplasia	Associate	10053006, 11055896, 17320202, 17509076, 18794123, 19789973, 19898608, 19901323, 26244699, 28768959, 29170271, 30160829, 31218223, 33520059, 34789231
Hepatitis B	Associate	31987043
Hepatolenticular Degeneration	Associate	36071243
Hereditary Breast and Ovarian Cancer Syndrome	Associate	32596330
Histiocytoma Benign Fibrous	Associate	23614918
Hydrocephalus	Associate	24075385, 40603987
Hypercalcemia	Associate	24670087
Hyperphosphatemia	Associate	32847703, 35344029, 37956738
Hypersensitivity Delayed	Associate	20592905
Hypertelorism	Associate	20592905
Hypochondroplasia	Associate	10395236, 10890199, 11055896, 12733711, 16418051, 17320202, 17525745, 19789973, 19898608, 23149434, 24616001, 28679403, 29170271, 34740356, 36859260, 37846159, 8880574 View all (2 more)
Hypoxia	Stimulate	23778527
Hypoxia	Associate	34484235
Idiopathic Noncirrhotic Portal Hypertension	Stimulate	32979454
Inflammatory Breast Neoplasms	Associate	30086764
Intellectual Disability	Associate	9279753
Intervertebral disc disease	Associate	26279428
Jackson Weiss syndrome	Associate	20592905
Keratoacanthoma	Associate	26319365
Keratosis	Associate	23614918, 26319365
Keratosis Seborrheic	Associate	16778799, 17392824, 17568799, 17673550, 21078999
Kidney Diseases Cystic	Associate	22203473
Kleeblattschaedel syndrome	Associate	24075385
Lacrimoauriculodentodigital syndrome	Associate	37990933
Laryngitis	Associate	29700339
Legius syndrome	Associate	36071243
Leukemia Lymphocytic Chronic B Cell	Associate	11380477
Leukemia Plasma Cell	Associate	17223917
Leukemia T Cell	Associate	11380477
Lung Neoplasms	Associate	24236184, 29850625, 35305401, 36927233
Lymphatic Metastasis	Associate	21547910, 24933362, 36927233
Lymphedema	Associate	19855393
Lymphoma B Cell	Associate	22932894
Lymphoma Non Hodgkin	Associate	21547910, 32445084, 36647073
Macrosomia obesity macrocephaly ocular abnormalities	Associate	8880574
Malignant mesenchymal tumor	Associate	32889887
Melanoma	Associate	21753785, 22730329, 28870692, 28928360, 32493317
Melorheostosis	Associate	28434888
Mesothelioma Malignant	Associate	29656754, 31527449
Microcephaly Micromelia Syndrome	Associate	19789973
Monoclonal Gammopathy of Undetermined Significance	Associate	22929983
Mood Disorders	Inhibit	39922722
Mouth Diseases	Stimulate	26465941
Mouth Diseases	Associate	36812689
Mouth Neoplasms	Associate	20539070, 29037125
Muenke Syndrome	Associate	18000976, 19755431, 20592905, 26028288, 31111620, 32505898, 32510873, 39922722, 9950359
Multiple Endocrine Neoplasia	Associate	22879958
Multiple Myeloma	Associate	10648414, 11154227, 11418483, 11529856, 11904459, 12028033, 12393535, 12433679, 12969976, 14531906, 15198734, 15761022, 16115125, 16778799, 16849642 View all (19 more)
Multiple Myeloma	Stimulate	11861292
Muscular Dystrophy Emery Dreifuss	Associate	36657019
Musculoskeletal Diseases	Associate	26415661
Myocardial Bridging	Associate	24075385
Myotonia with Skeletal Abnormalities and Mental Retardation	Associate	11529856, 15625620, 29170271
Nasopharyngeal Carcinoma	Associate	25535896
Neointima	Associate	22203473
Neoplasm Invasiveness	Associate	25071007
Neoplasm Metastasis	Associate	27756406, 27835695, 35991125, 36927233, 37682528
Neoplasms	Associate	10648414, 11395371, 12910517, 14520460, 15026322, 15869706, 16149130, 16778799, 17384684, 17568799, 17668422, 18231634, 18381641, 18794123, 19286672 View all (108 more)
Neoplasms	Inhibit	16595896, 23573312
Neoplasms	Stimulate	35931323
Neoplasms Cystic Mucinous and Serous	Associate	31098421
Neoplasms Germ Cell and Embryonal	Associate	23784824
Neoplasms Glandular and Epithelial	Associate	19327639
Neoplasms Neuroepithelial	Associate	26810070, 36647073
Neoplasms Squamous Cell	Associate	27669755, 36726072
Neuroblastoma	Associate	28775129, 37664946
Neurocytoma	Associate	38609519
Neurocytoma	Stimulate	40498174
Neurofibromatosis 2	Associate	36917021
Neurofibrosarcoma	Associate	26993773
Neurologic Manifestations	Associate	30160829
Nevus	Associate	16841094, 17568799, 17673550, 21639936, 22499344, 24346875
Nevus Sebaceous of Jadassohn	Associate	24346875
Non Muscle Invasive Bladder Neoplasms	Associate	11395371, 19843069, 21072204, 23108201, 23778527, 24525232, 27586786, 29941343, 30064409, 31369573, 32448160, 32449441, 32753285, 33024200, 33243261 View all (12 more)
Oculodentodigital Dysplasia	Associate	28400699, 37990933
Odontogenic Cyst Calcifying	Associate	24459137
Osteoarthritis	Associate	27701424
Osteochondrodysplasias	Associate	17507011, 19327639, 19898608, 40596606
Osteoglophonic dwarfism	Associate	15625620
Osteosarcoma	Associate	29045509
Ovarian Neoplasms	Associate	22531302, 32596330, 32668414
Pancreatic Neoplasms	Associate	26823787, 29074453
Papilloma	Associate	19287463, 25056374, 30838648
Papilloma Inverted	Associate	19287463
Paraproteinemias	Associate	36138464
Personality Disorders	Associate	26887047, 28775129
Pigmentation Disorders	Associate	8880573
Prostatic Hyperplasia	Associate	15655558
Prostatic Neoplasms	Associate	19377444, 26887047, 27701467, 28657667
Prostatic Neoplasms Castration Resistant	Associate	25592164, 37796107
Prostatitis	Associate	19377444
Pseudoachondroplasia	Associate	9258750
Pyle disease	Associate	9258750
Pyruvate Carboxylase Deficiency Disease	Associate	23778488
Renal Insufficiency	Associate	9321756
Respiratory Insufficiency	Associate	30160829
Respiratory Tract Infections	Associate	26278805, 26778714, 29396293, 30887605, 31278255, 32208524, 33368857, 33397444, 34050578, 34782263, 35563543, 37558130, 37640571, 38320909
Retinal Dysplasia	Associate	19789973, 35897137
Retrognathia	Associate	31169147
Salter Harris Fractures	Associate	36714562
Sarcoma	Associate	34308104
Sarcoma Synovial	Associate	23664540
Scleroderma Systemic	Associate	28434888
Scoliosis	Associate	21639936, 37192015
Seizures	Associate	30160829
Seminoma	Associate	23784824
Silver Russell Syndrome	Associate	27370225
Skin Diseases	Associate	17673550, 19377444, 21639936, 8880573
Skin Neoplasms	Associate	17568799
Small Cell Lung Carcinoma	Associate	29110841, 36927233
Sotos Syndrome	Associate	24670087
Spinal Diseases	Associate	28249712
Spondyloepimetaphyseal Dysplasia X Linked	Associate	9258750
Squamous Cell Carcinoma of Head and Neck	Associate	24667986, 25056374, 25980437, 30933315, 31093971, 33626078, 36165723, 37666053
Squamous Cell Carcinoma of Head and Neck	Stimulate	26465941, 26711175, 29700339
Squamous Intraepithelial Lesions	Associate	32445084
Stomach Neoplasms	Associate	28056982, 36484990
Stomatitis	Associate	37956738
Syndrome	Associate	38250739
Synostosis	Associate	20643727
Teratoma	Associate	32505898
Testicular Germ Cell Tumor	Associate	19855393
Testicular Neoplasms	Associate	19855393
Thanatophoric Dysplasia	Associate	11395371, 11851976, 11904459, 12929929, 16778799, 16841094, 17320202, 17507011, 19855393, 19898608, 21264819, 21639936, 23408600, 24616001, 25800480 View all (9 more)
Thanatophoric dysplasia type 2	Associate	10053006, 11055896, 12368206, 24075385, 25800480
Thanatophoric Dysplasia Type I	Associate	10053006, 10890204, 11055896, 17509076, 18794123, 19761767, 22203473, 23972473, 24075385, 25671245, 28254233, 33368972, 39778871, 9582336, 9790257
Thoracic Diseases	Associate	19789973
Thoracic Injuries	Associate	24075385
Thrombocytopenia	Associate	26415661
Tongue Neoplasms	Associate	28525363
Tonsillar Neoplasms	Associate	28525363
Trichilemmal Cyst 1	Associate	32493317
Triple Negative Breast Neoplasms	Associate	27231203, 31987043
Uniparental Disomy	Associate	25997541
Urethral Diseases	Associate	25223521
Urethral Neoplasms	Associate	16965395, 17568799, 17668422, 18072261, 19287463, 21533174, 21547910, 22553347, 22685613, 22873290, 24846059, 26497743, 26598538, 26651075, 27356691 View all (26 more)
Urethritis	Associate	16965395, 29487377, 36082904
Urinary Bladder Diseases	Associate	25223521, 28855393, 30352907, 36906071
Urinary Bladder Neoplasms	Associate	11395371, 12910517, 15026322, 16384584, 16778799, 17384684, 17668422, 17673550, 18231634, 18794123, 19454613, 19855393, 20187926, 20348956, 21072204 View all (68 more)
Urologic Neoplasms	Associate	22203473, 22873290, 26397152, 34129823, 36082904, 36675289
Uterine Cervical Dysplasia	Associate	15869706
Uterine Cervical Neoplasms	Associate	11904459, 15869706, 18794123, 25669975, 27154171, 30616520, 32951893, 38555994
Uterine Cervicitis	Associate	19327639
Uveal melanoma	Associate	36232829
Waldenstrom Macroglobulinemia	Associate	31054897, 33473164
Wolf Hirschhorn Syndrome	Associate	26960370

FGFR3 (fibroblast growth factor receptor 3)