Reactome | bone development disease

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bone development disease Show undefined attributes

created	[InstanceEdit:2032941] Rothfels, K, 2012-01-08
databaseName	DOID
dbId	2032940
definition	A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage.
displayName	bone development disease
identifier	0080006
name	bone development disease
referenceDatabase	[ReferenceDatabase:1247631] DOID
schemaClass	Disease
url	https://www.ebi.ac.uk/ols4/ontologies/doid/terms?obo_id=DOID:0080006

Referrals

(disease)

[Pathway:R-HSA-1226099] Signaling by FGFR in disease
[Reaction:R-HSA-5655336] p-4Y-PLCG1 dissociates from activated FGFR4 mutants
[Reaction:R-HSA-5655341] Activated FGFR4 mutants phosphorylate PLCG1
[Complex:R-HSA-5655237] Activated FGFR4 mutants:p-4Y-PLCG1 [plasma membrane]
[Reaction:R-HSA-5655313] Activated FGFR4 mutants bind PLCG1
[Complex:R-HSA-5655279] Activated FGFR4 mutants:PLCG1 [plasma membrane]
[Reaction:R-HSA-5655248] Activated FGFR4 mutants:p-FRS2 binds GRB2:GAB1:PIK3R1
[Reaction:R-HSA-5655235] Activated FGFR4 mutant-associated PI3K phosphorylates PIP2 to PIP3
[Reaction:R-HSA-5655347] Activated FGFR4 mutants:p-FRS2:GRB2:SOS1 activates RAS nucleotide exchange
[Reaction:R-HSA-5655252] Activated FGFR4 mutants:p-FRS2:GRB2:GAB1:PIK3R1 binds PIK3CA
[Complex:R-HSA-5655267] Activated FGFR4 mutants:p-FRS2:GRB2:GAB1:PI3K [plasma membrane]
[Complex:R-HSA-5655344] Activated FGFR4 mutants:p-FRS2:GRB2:GAB1:PIK3R1 [plasma membrane]
[Reaction:R-HSA-5655348] Activated FGFR4 mutants:p-FRS2 binds GRB2-SOS1
[Complex:R-HSA-5655342] FGFR4 mutants:p-FRS2:GRB2:SOS1 [plasma membrane]
[Reaction:R-HSA-5655284] Activated FGFR4 mutants phosphorylate FRS2
[Complex:R-HSA-5655308] Activated FGFR4 mutants:p-FRS2 [plasma membrane]
[Reaction:R-HSA-5655351] Activated FGFR4 mutants bind FRS2
[DefinedSet:R-HSA-5655280] Activated FGFR4 mutants [plasma membrane]
[Pathway:R-HSA-5655253] Signaling by FGFR2 in disease
[Reaction:R-HSA-5655241] Activated FGFR2 mutants:p-FRS2:GRB2:SOS1 activates RAS nucleotide exchange
[Reaction:R-HSA-5655320] Activated FGFR2 mutants:p-FRS2 binds GRB2:GAB1:PIK3R1
[Reaction:R-HSA-5655323] Activated FGFR2 mutant-associated PI3K phosphorylates PIP2 to PIP3
[Reaction:R-HSA-5655339] Activated FGFR2 mutants bind FRS2
[Reaction:R-HSA-5655245] Activated FGFR2 mutants:p-FRS2:GRB2:GAB1:PIK3R1 binds PIK3CA
[Complex:R-HSA-5655337] Activated FGFR2 mutants:p-FRS2:GRB2:GAB1:PI3K [plasma membrane]
[Complex:R-HSA-5655330] Activated FGFR2 mutants:p-FRS2:GRB2:GAB1:PIK3R1 [plasma membrane]
[Reaction:R-HSA-5654748] p-4Y-PLCG1 dissociates from activated FGFR2 mutants
[Pathway:R-HSA-1839126] FGFR2 mutant receptor activation
[Pathway:R-HSA-2033519] Activated point mutants of FGFR2
[DefinedSet:R-HSA-2077401] FGFR2 point mutant dimers [plasma membrane]
[Reaction:R-HSA-2033490] Autocatalytic phosphorylation of FGFR2 point mutants with enhanced kinase activity
[Reaction:R-HSA-2033474] FGFR2b mutants bind an expanded range of ligands
[Complex:R-HSA-2065929] FGFR2b mutant dimers with enhanced ligand-binding bound to FGFs [plasma membrane]
[DefinedSet:R-HSA-2065927] FGFR2b mutant dimers with enhanced ligand-binding [plasma membrane]
[Complex:R-HSA-2011931] FGFR2b S252W mutant dimer [plasma membrane]
[Complex:R-HSA-2011934] FGFR2b P253R mutant dimer [plasma membrane]
[DefinedSet:R-HSA-2033371] FGFR2b mutants with enhanced ligand binding [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-2011846] FGFR2b S252W [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-2011851] FGFR2b P253R [plasma membrane]
[Reaction:R-HSA-2033479] Dimerization of FGFR2 point mutants with enhanced kinase activity
[CandidateSet:R-HSA-2033349] FGFR2 mutant dimers with enhanced kinase activity [plasma membrane]
[Complex:R-HSA-2033331] FGFR2 K660N mutant dimer [plasma membrane]
[Complex:R-HSA-2033341] FGFR2 N549H mutant dimer [plasma membrane]
[CandidateSet:R-HSA-2033351] FGFR2 mutants with enhanced kinase activity [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-2033296] FGFR2 N549H [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-1637905] FGFR2 K660N [plasma membrane]
[Reaction:R-HSA-2033472] FGFR2c mutants bind an expanded range of ligands
[CandidateSet:R-HSA-2033375] FGFR2c mutants with enhanced ligand binding [plasma membrane]
[Reaction:R-HSA-2033486] Autocatalytic phosphorylation of FGFR2c mutants with enhanced ligand binding
[Complex:R-HSA-2065986] FGFR2c mutant dimers with enhanced ligand-binding bound to FGFs [plasma membrane]
[CandidateSet:R-HSA-2065983] FGFR2c mutant dimers with enhanced ligand-binding [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-2011852] FGFR2c S252W [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-1637916] FGFR2c P253R [plasma membrane]
[Complex:R-HSA-2071933] FGFR2c A315S mutant dimer [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-2071931] FGFR2c A315S [plasma membrane]
[Complex:R-HSA-2071937] FGFR2c A314S mutant dimer [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-2071928] FGFR2c A314S [plasma membrane]
[CandidateSet:R-HSA-2029952] FGFR2 ligand-independent mutant dimers [plasma membrane]
[CandidateSet:R-HSA-2029955] FGFR2 ligand-independent mutants [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-1637920] FGFR2 S267P [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-2029883] FGFR2c W290G [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-1637929] FGFR2 W290C [plasma membrane]
[Reaction:R-HSA-5655343] Activated FGFR2 mutants bind PLCG1
[Reaction:R-HSA-5655233] Activated FGFR2 mutants:p-FRS2 binds GRB2-SOS1
[Complex:R-HSA-5655345] FGFR2 mutants:p-FRS2:GRB2:SOS1 [plasma membrane]
[Reaction:R-HSA-5655301] Activated FGFR2 mutants phosphorylate PLCG1
[Complex:R-HSA-5654745] Activated FGFR2 mutants:p-4Y-PLCG1 [plasma membrane]
[Complex:R-HSA-5655346] Activated FGFR2 mutants:PLCG1 [plasma membrane]
[Reaction:R-HSA-5655268] Activated FGFR2 mutants phosphorylate FRS2
[Complex:R-HSA-5655236] Activated FGFR2 mutants:p-FRS2 [plasma membrane]
[DefinedSet:R-HSA-5654747] Activated FGFR2 mutants [plasma membrane]
[CandidateSet:R-HSA-2033348] Activated FGFR2 mutants with enhanced kinase activity [plasma membrane]
[Complex:R-HSA-2033312] Activated FGFR2 K660N mutant [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-2033301] p-8Y-FGFR2 K660N [plasma membrane]
[Complex:R-HSA-2033315] Activated FGFR2 N549H mutant [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-2033304] p-8Y-FGFR2 N549H [plasma membrane]
[Complex:R-HSA-2065989] Activated FGFR2c mutants with enhanced ligand-binding [plasma membrane]
[CandidateSet:R-HSA-2065987] p-8Y-FGFR2c mutant dimers with enhanced ligand-binding [plasma membrane]
[Complex:R-HSA-2011964] p-8Y-FGFR2c S252W dimer [plasma membrane]
[Complex:R-HSA-2011967] p-8Y-FGFR2c P253R dimer [plasma membrane]
[Complex:R-HSA-2071951] p-8Y-FGFR2c A315S dimer [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-2071942] p-8Y-FGFR2c A315S mutant [plasma membrane]
[Complex:R-HSA-2071952] p-8Y-FGFR2c A314S dimer [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-2071944] p-8Y-FGFR2c A314S [plasma membrane]
[Complex:R-HSA-2071955] p-8Y-FGFR2c A314D dimer [plasma membrane]
[Complex:R-HSA-2065931] Activated FGFR2b mutants with enhanced ligand binding [plasma membrane]
[DefinedSet:R-HSA-2065923] p-8Y-FGFR2b dimers with enhanced ligand binding [plasma membrane]
[Complex:R-HSA-2011957] p-8Y-FGFR2b P252W dimer [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-2011874] p-8Y-FGFR2b S252W [plasma membrane]
[Complex:R-HSA-2011962] p-8Y-FGFR2b P253R dimer [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-2011877] p-8Y-FGFR2b P253R [plasma membrane]
[CandidateSet:R-HSA-2029948] Activated FGFR2 ligand-independent mutants [plasma membrane]
[Pathway:R-HSA-5655332] Signaling by FGFR3 in disease
[Reaction:R-HSA-5655289] Activated FGFR3 point, translocation and fusion mutant-associated PI3K phosphorylates PIP2 to PIP3
[Reaction:R-HSA-5655277] Activated FGFR3 point, translocation and fusion mutants:p-FRS2:GRB2:SOS1 activates RAS nucleotide exchange
[Reaction:R-HSA-5655244] Activated FGFR3 point and translocation mutants bind PLCG1
[Reaction:R-HSA-5655243] Activated FGFR3 point and translocation mutants phosphorylate PLCG1
[Complex:R-HSA-5655305] Activated FGFR3 point and translocation mutants: PLCG1 [plasma membrane]
[Reaction:R-HSA-5655247] p-4Y-PLCG1 dissociates from activated FGFR3 point and translocation mutants
[Complex:R-HSA-5655321] Activated FGFR3 point and translocation mutants:p-4Y-PLCG1 [plasma membrane]
[DefinedSet:R-HSA-5655234] Activated FGFR3 point and translocation mutants [plasma membrane]
[Reaction:R-HSA-5655295] Activated FGFR3 point, translocation and fusion mutants:p-FRS2 binds GRB2-SOS1
[Complex:R-HSA-5655307] FGFR3 point, translocation and fusion mutants:p-FRS2:GRB2:SOS1 [plasma membrane]
[Reaction:R-HSA-5655262] Activated FGFR3 point, translocation and fusion mutants bind FRS2
[Reaction:R-HSA-5655315] Activated FGFR3 point, translocation and fusion mutants:p-FRS2 binds GRB2:GAB1:PIK3R1
[Pathway:R-HSA-2033514] FGFR3 mutant receptor activation
[Pathway:R-HSA-1839130] Signaling by activated point mutants of FGFR3
[Reaction:R-HSA-2012082] Autocatalytic phosphorylation of FGFR3 cysteine mutants
[Reaction:R-HSA-2012084] Constitutive dimerization of FGFR3 cysteine mutants
[DefinedSet:R-HSA-2012043] FGFR3 cysteine mutants [plasma membrane]
[Reaction:R-HSA-2012073] Autocatalytic phosphorylation of FGFR3c P250R mutant
[Reaction:R-HSA-2033476] Dimerization of FGFR3 point mutants with enhanced kinase activity
[CandidateSet:R-HSA-2018770] FGFR3 point mutants with enhanced kinase activity [plasma membrane]
[Reaction:R-HSA-2033485] Autocatalytic phosphorylation of FGFR3 point mutants with enhanced kinase activity
[DefinedSet:R-HSA-2077412] FGFR3 mutant dimers [plasma membrane]
[Complex:R-HSA-2011952] FGFR3c P250R mutant dimer bound to FGF [plasma membrane]
[Complex:R-HSA-2011951] FGFR3c P250R mutant dimer [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-2011857] FGFR3c P250R [plasma membrane]
[CandidateSet:R-HSA-2033383] FGFR3 point mutant dimers with enhanced kinase activity [plasma membrane]
[Complex:R-HSA-2033328] FGFR3 K650T mutant dimer [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-1614411] FGFR3 K650T [plasma membrane]
[Complex:R-HSA-2033336] FGFR3 K650N mutant dimer [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-1614406] FGFR3 K650N [plasma membrane]
[Complex:R-HSA-2033324] FGFR3 K650M mutant dimer [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-1614402] FGFR3 K650M [plasma membrane]
[Complex:R-HSA-2033343] FGFR3 K650Q mutant dimer [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-1614410] FGFR3 K650Q [plasma membrane]
[Complex:R-HSA-2065831] FGFR3 A319E mutant dimer [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-1614390] FGFR3 A391E [plasma membrane]
[CandidateSet:R-HSA-2038375] FGFR3 (4;14) translocation mutant dimers [plasma membrane]
[Complex:R-HSA-2033332] FGFR3 K650E mutant dimer [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-1614400] FGFR3 K650E [plasma membrane]
[Complex:R-HSA-2033337] FGFR3 G380R mutant dimer [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-1614398] FGFR3 G380R [plasma membrane]
[Complex:R-HSA-2038350] FGFR3 795fs*139STOP mutant dimer [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-1614387] FGFR3 805fs*141 [plasma membrane]
[DefinedSet:R-HSA-2012041] FGFR3 cysteine mutant dimers [plasma membrane]
[Complex:R-HSA-2038352] FGFR3 S371C mutant dimer [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-1614421] FGFR3 S371C [plasma membrane]
[Complex:R-HSA-2038353] FGFR3 Y373C mutant dimer [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-1614424] FGFR3 Y373C [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-1226109] FGFR3b S249C [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-1614394] FGFR3 G370C [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-1614419] FGFR3 R248C [plasma membrane]
[Reaction:R-HSA-5655285] Activated FGFR3 point, translocation and fusion mutants:p-FRS2:GRB2:GAB1:PIK3R1 binds PIK3CA
[Complex:R-HSA-5655294] Activated FGFR3 point, translocation and fusion mutants:p-FRS2:GRB2:GAB1:PI3K [plasma membrane]
[DefinedSet:R-HSA-2050627] p-8Y-FGFR1c P252X dimers [plasma membrane]
[Complex:R-HSA-2050642] Activated FGFR1c P252X mutants [plasma membrane]
[DefinedSet:R-HSA-5655215] Activated FGFR1 mutants [plasma membrane]
[Reaction:R-HSA-5655269] Activated FGFR1 mutants bind FRS2
[Complex:R-HSA-5655216] Activated FGFR1 mutants:p-FRS2 [plasma membrane]
[Complex:R-HSA-5655328] FGFR1 mutants:p-FRS2:GRB2:SOS1 [plasma membrane]
[Reaction:R-HSA-5655266] Activated FGFR1 mutants:p-FRS2 binds GRB2-SOS1
[Reaction:R-HSA-5655278] Activated FGFR1 mutants phosphorylate FRS2
[EntityWithAccessionedSequence:R-HSA-2011838] FGFR1c P252R [plasma membrane]
[DefinedSet:R-HSA-2050635] FGFR1c P252X mutant dimers [plasma membrane]
[Complex:R-HSA-2050638] FGFR1c P252X mutant dimers bound to FGFs [plasma membrane]
[Reaction:R-HSA-2023455] Autocatalytic phosphorylation of FGFR1c P252X mutant dimers
[DefinedSet:R-HSA-2012029] FGFR1c P252X mutants [plasma membrane]
[Pathway:R-HSA-1839122] Signaling by activated point mutants of FGFR1
[Pathway:R-HSA-1839124] FGFR1 mutant receptor activation
[Reaction:R-HSA-5655326] Activated FGFR1 mutants:p-FRS2:GRB2:SOS1 activates RAS nucleotide exchange
[Complex:R-HSA-5655218] Activated FGFR1 mutants:p-FRS2:GRB2:GAB1:PIK3R1 [plasma membrane]
[Complex:R-HSA-5655217] Activated FGFR1 mutants:p-FRS2:GRB2:GAB1:PI3K [plasma membrane]
[Reaction:R-HSA-5655263] Activated FGFR1 mutants:p-FRS2:GRB2:GAB1:PIK3R1 binds PIK3CA
[Reaction:R-HSA-5655240] Activated FGFR1 mutants:p-FRS2 binds GRB2:GAB1:PIK3R1
[Reaction:R-HSA-5655290] Activated FGFR1 mutant-associated PI3K phosphorylates PIP2 to PIP3
[Pathway:R-HSA-5655302] Signaling by FGFR1 in disease
[EntityWithAccessionedSequence:R-HSA-2065835] p-6Y-FGFR3 A391E [plasma membrane]
[Complex:R-HSA-2065834] Activated FGFR3 A391E mutant [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-2032966] p-6Y-FGFR3 K650T [plasma membrane]
[Complex:R-HSA-2033326] Activated FGFR3 K650T mutant [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-2032946] p-6Y-FGFR3 G380R [plasma membrane]
[Complex:R-HSA-2033320] Activated FGFR3 G380R mutant [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-2032959] p-6Y-FGFR3 K650M [plasma membrane]
[Complex:R-HSA-2033334] Activated FGFR3 K650M mutant [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-2032952] p-6Y-FGFR3 K650E [plasma membrane]
[Complex:R-HSA-2033333] Activated FGFR3 K650E mutant [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-2032961] p-6Y-FGFR3 K650N [plasma membrane]
[Complex:R-HSA-2033380] Activated FGFR3 K650N mutant [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-2032962] p-6Y-FGFR3 K650Q [plasma membrane]
[Complex:R-HSA-2033330] Activated FGFR3 K650Q mutant [plasma membrane]
[CandidateSet:R-HSA-2033358] Activated FGFR3 mutants with enhanced kinase activity [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-2038360] p-6Y-FGFR3 805fs*141 [plasma membrane]
[Complex:R-HSA-2038362] Activated FGFR3 795fs*139STOP mutant [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-1226874] p-6Y-FGFR3b S249C mutant [plasma membrane]
[Complex:R-HSA-1226875] Activated FGFR3b S249C mutant [plasma membrane]
[DefinedSet:R-HSA-2012020] Activated FGFR3 cysteine mutants [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-2011870] p6Y-FGFR3c P250R [plasma membrane]
[Complex:R-HSA-2011968] p-6Y-FGFR3c P250R dimer [plasma membrane]
[DefinedSet:R-HSA-9753847] Activated FGFR3 point, translocation and fusion mutants [plasma membrane]
[Complex:R-HSA-5655238] Activated FGFR3 point, translocation and fusion mutants:p-FRS2 [plasma membrane]
[Reaction:R-HSA-5655270] Activated FGFR3 point, translocation and fusion mutants phosphorylate FRS2
[Complex:R-HSA-5655271] Activated FGFR3 point, translocation and fusion mutants:p-FRS2:GRB2:GAB1:PIK3R1 [plasma membrane]

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