Signaling by FGFR2

Pathway network for the Signaling by FGFR2 SuperPath

Sources:
  • Reactome

Gene overlap in member pathways for Signaling by FGFR2 SuperPath

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

Disorders associated with Signaling by FGFR2 SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Noonan syndrome and noonan-related syndromeEnrichmentBRAF, CBL, HRAS, KRAS, NRAS, PTPN11, SOS1, SPRED110.67
2Noonan syndrome 1EnrichmentBRAF, CBL, HRAS, KRAS, NRAS, PTPN11, SOS1, SPRED210.52
3RasopathyEnrichmentBRAF, CBL, HRAS, KRAS, NRAS, PTPN11, SOS110.24
4Nevus, epidermalEnrichmentFGFR3, HRAS, KRAS, NRAS, PIK3CA9.59
5Lung non-small cell carcinomaEnrichmentBRAF, HRAS, KRAS, NRAS, PIK3CA8.75
6Kallmann syndromeEnrichmentANOS1, FGF17, FGF8, FGFR1, FLRT3, POLR2F8.21
7Noonan syndrome 3EnrichmentHRAS, KRAS, PTPN11, SOS17.57
8Lacrimoauriculodentodigital syndrome 1EnrichmentFGF10, FGFR2, FGFR36.56
9Tumoral calcinosis, hyperphosphatemic, familial, 1EnrichmentFGF23, GALNT3, KL6.56
10Juvenile myelomonocytic leukemiaEnrichmentCBL, KRAS, NRAS, PTPN116.43
11Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS6.22
12Colorectal cancerEnrichmentBRAF, FGFR2, FGFR3, NRAS, PIK3CA, PIK3R1, SRC5.80
13Thyroid cancer, nonmedullary, 2EnrichmentBRAF, HRAS, NRAS5.29
14Gallbladder cancerEnrichmentBRAF, KRAS, PIK3CA5.29
15Follicular thyroid carcinomaEnrichmentBRAF, HRAS, NRAS5.29
16Lung squamous cell carcinomaEnrichmentFGFR3, KRAS, PIK3CA5.27
17Melanocytic nevus syndrome, congenitalEnrichmentBRAF, HRAS, NRAS5.09
18Pilomyxoid astrocytomaEnrichmentBRAF, FGFR1, KRAS5.03
19Differentiated thyroid carcinomaEnrichmentBRAF, HRAS, KRAS, NRAS4.78
20Pulmonic stenosisEnrichmentBRAF, SOS14.54
21Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS4.54
22Lip and oral cavity carcinomaEnrichmentBRAF, HRAS, PIK3CA4.50
23Bladder cancerEnrichmentFGFR3, HRAS, KRAS, PIK3CA4.44
24Keratosis, seborrheicEnrichmentFGFR3, PIK3CA4.37
25Pfeiffer syndromeEnrichmentFGFR1, FGFR24.37
26Jackson-weiss syndromeEnrichmentFGFR1, FGFR24.37
27Encephalocraniocutaneous lipomatosisEnrichmentFGFR1, KRAS4.37
28Rosette-forming glioneuronal tumorEnrichmentFGFR1, PIK3CA4.37
29Lung cancer susceptibility 3EnrichmentBRAF, FGF10, KRAS4.28
30Langerhans cell histiocytosisEnrichmentBRAF, NRAS4.07
31Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R14.07
32Large congenital melanocytic nevusEnrichmentHRAS, NRAS4.07
33Crouzon syndromeEnrichmentFGFR2, FGFR33.90
34SpermatocytomaEnrichmentFGFR3, HRAS3.90
35Cardiofaciocutaneous syndrome 1EnrichmentBRAF, KRAS3.77
36Cardiofaciocutaneous syndromeEnrichmentBRAF, KRAS3.77
37Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS3.77
38Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCBL, PTPN113.77
39Noonan syndrome with multiple lentiginesEnrichmentBRAF, PTPN113.77
40Normosmic congenital hypogonadotropic hypogonadismEnrichmentFGF17, FGF8, FGFR13.68
41Saethre-chotzen syndromeEnrichmentFGFR2, FGFR33.60
42Hemifacial hyperplasiaEnrichmentFGFR2, FGFR33.38
43Hypogonadotropic hypogonadism 1 with or without anosmiaEnrichmentANOS1, POLR2F3.38
44HoloprosencephalyEnrichmentFGF8, FGFR13.38
45Breast adenocarcinomaEnrichmentKRAS, PIK3CA3.37
46Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, PIK3CA3.23
47Leukemia, chronic myeloidEnrichmentKRAS, NRAS3.23
48Non-immune hydrops fetalisEnrichmentHRAS, KRAS, PTPN113.22
49Holoprosencephaly 1EnrichmentFGF8, FGFR13.20
50Lung cancerEnrichmentBRAF, KRAS, PIK3CA3.18
51Beare-stevenson cutis gyrata syndromeEnrichmentFGFR23.13
52Scaphocephaly, maxillary retrusion, and impaired intellectual developmentEnrichmentFGFR23.13
53Apert syndromeEnrichmentFGFR23.13
54Aplasia of lacrimal and salivary glandsEnrichmentFGF103.13
55Bent bone dysplasia syndrome 1EnrichmentFGFR23.13
56Lacrimoauriculodentodigital syndrome 3EnrichmentFGF103.13
57Non-syndromic unicoronal craniosynostosisEnrichmentFGFR23.13
58Interstitial lung disease specific to childhoodEnrichmentFGF103.13
59Arteriovenous malformationEnrichmentHRAS, PIK3CA3.00
60Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, PIK3CA2.90
61Otodental dysplasiaEnrichmentFGF32.83
62Pulmonary hypoplasia, primaryEnrichmentFGF102.83
63Aural atresia, congenitalEnrichmentFGFR22.83
64Deafness, congenital, with inner ear agenesis, microtia, and microdontiaEnrichmentFGF32.83
65Antley-bixler syndrome without genital anomalies or disordered steroidogenesisEnrichmentFGFR22.83
66Split hand-foot malformationEnrichmentFGFR22.83
67Autosomal dominant nonsyndromic deafnessEnrichmentFGFR22.83
68Oculootodental syndromeEnrichmentFGF32.83
69Hypogonadotropic hypogonadism 20 with or without anosmiaEnrichmentFGF172.83
70Metacarpal 4-5 fusionEnrichmentFGF162.83
71Familial isolated trichomegalyEnrichmentFGF52.83
72Multiple synostoses syndrome 3EnrichmentFGF92.83
73Hypogonadotropic hypogonadism 6 with or without anosmiaEnrichmentFGF82.83
74Tumoral calcinosis, hyperphosphatemic, familial, 2EnrichmentFGF232.83
75Renal hypodysplasia/aplasia 2EnrichmentFGF202.83
76Short-rib thoracic dysplasia 22 without polydactylyEnrichmentFGF42.83
77Hypogonadotropic hypogonadismEnrichmentANOS1, FGFR12.83
78Specific learning disabilityEnrichmentMAPK1, PTPN112.82
79Gastric cancerEnrichmentFGFR2, KRAS, PIK3CA2.80
80Lynch syndromeEnrichmentKRAS, PIK3CA2.54
81GliomaEnrichmentFGFR22.53
82TrichomegalyEnrichmentFGF52.53
83RhabdomyosarcomaEnrichmentCBL, HRAS2.49
84Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentANOS1, FGFR12.43
85Split-hand/foot malformation 1EnrichmentFGFR22.35
86Hypophosphatemic rickets, autosomal dominantEnrichmentFGF232.35
87Arteriovenous malformations of the brainEnrichmentBRAF, KRAS2.34
88GliosarcomaEnrichmentFGFR1, FGFR32.32
89Microform holoprosencephalyEnrichmentFGF8, FGFR12.32
90Lobar holoprosencephalyEnrichmentFGF8, FGFR12.32
91MacrodactylyEnrichmentPIK3CA2.27
92MetachondromatosisEnrichmentPTPN112.27
93Oculoectodermal syndromeEnrichmentKRAS2.27
94Deafness, autosomal recessive 26EnrichmentGAB12.27
95Noonan syndrome 4EnrichmentSOS12.27
96Megalencephaly, autosomal dominantEnrichmentPIK3CA2.27
97Noonan syndrome 7EnrichmentBRAF2.27
98Leopard syndrome 3EnrichmentBRAF2.27
99Leopard syndrome 1EnrichmentPTPN112.27
100Cowden syndrome 5EnrichmentPIK3CA2.27
101Melanosis, neurocutaneousEnrichmentNRAS2.27
102Iga nephropathy 3EnrichmentSPRY22.27
103Noonan syndrome 6EnrichmentNRAS2.27
104Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3EnrichmentHNRNPA12.27
105Cerebral cavernous malformations 4EnrichmentPIK3CA2.27
106Noonan syndrome 13EnrichmentMAPK12.27
107Short syndromeEnrichmentPIK3R12.27
108Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG12.27
109Cardiofaciocutaneous syndrome 2EnrichmentKRAS2.27
110Houge-janssens syndrome 2EnrichmentPPP2R1A2.27
111LymphangiomaEnrichmentBRAF2.27
112Hemifacial myohyperplasiaEnrichmentPIK3CA2.27
113Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.27
114Phace associationEnrichmentBRAF2.27
115Myopathy, distal, 3EnrichmentHNRNPA12.27
116Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.27
117Amyotrophic lateral sclerosis 20EnrichmentHNRNPA12.27
118Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.27
119Thrombocytopenia 6EnrichmentSRC2.27
120Finnish upper limb-onset distal myopathyEnrichmentHNRNPA12.27
121Amyotrophic lateral sclerosis 26 with or without frontotemporal dementiaEnrichmentTIA12.27
122Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.27
123HypospadiasEnrichmentPIK3CA2.27
124Relapsing-remitting multiple sclerosisEnrichmentHNRNPA12.27
125Congenital pulmonary airway malformationEnrichmentKRAS2.27
126Rare venous malformationEnrichmentPIK3CA2.27
127Diaphragmatic eventrationEnrichmentPIK3CA2.27
128Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.27
129Syringocystadenoma papilliferumEnrichmentBRAF2.27
130Rare combined vascular malformationEnrichmentPIK3CA2.27
131GangliogliomaEnrichmentBRAF2.27
132Cavernous lymphangiomaEnrichmentPIK3CA2.27
133Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.27
134Nongerminomatous germ cell tumorEnrichmentBRAF2.27
135Phace syndromeEnrichmentBRAF2.27
136Phakomatosis pigmentokeratoticaEnrichmentHRAS2.27
137Ppp2r1a-related neurodevelopmental disorderEnrichmentPPP2R1A2.27
138Classic hairy cell leukemiaEnrichmentBRAF2.27
139Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.27
140Eccrine angiomatous hamartomaEnrichmentPIK3CA2.27
141Macrodactyly of toeEnrichmentPIK3CA2.27
142Neurocutaneous melanocytosisEnrichmentNRAS2.27
143Malignant astrocytomaEnrichmentPTPN112.27
144Giant cell glioblastomaEnrichmentFGFR1, FGFR32.27
145Endometrial cancerEnrichmentFGFR2, PIK3CA2.25
146Multiple synostoses syndromeEnrichmentFGF92.23
147Myeloma, multipleEnrichmentBRAF, FGFR3, KRAS2.23
148Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentFGF8, KLB, PTPN112.23
149Semilobar holoprosencephalyEnrichmentFGF8, FGFR12.22
150HypochondroplasiaEnrichmentFGFR32.18
151Osteoglophonic dysplasiaEnrichmentFGFR12.18
152Thanatophoric dysplasia, type iEnrichmentFGFR32.18
153Trigonocephaly 1EnrichmentFGFR12.18
154Muenke syndromeEnrichmentFGFR32.18
155Legius syndromeEnrichmentSPRED12.18
156Thanatophoric dysplasia, type iiEnrichmentFGFR32.18
157Camptodactyly, tall stature, and hearing loss syndromeEnrichmentFGFR32.18
158Tumoral calcinosis, hyperphosphatemic, familial, 3EnrichmentKL2.18
159Noonan syndrome 14EnrichmentSPRED22.18
160Crouzon syndrome with acanthosis nigricansEnrichmentFGFR32.18
161Oculopharyngodistal myopathy 2EnrichmentGIPC12.18
162Achondroplasia, severe, with developmental delay and acanthosis nigricansEnrichmentFGFR32.18
163Hartsfield syndromeEnrichmentFGFR12.18
164Lacrimoauriculodentodigital syndrome 2EnrichmentFGFR32.18
165Fgfr3-related chondrodysplasiaEnrichmentFGFR32.18
166Camptodactyly-tall stature-scoliosis-hearing loss syndromeEnrichmentFGFR32.18
167Hartsfield-bixler-demyer syndromeEnrichmentFGFR12.18
168Orofacial cleft 1EnrichmentFGF102.18
169Meier-gorlin syndrome 1EnrichmentFGFR22.13
170CraniosynostosisEnrichmentFGFR2, FGFR32.13
171Breast cancerEnrichmentKRAS, PIK3CA, SHC12.12
172Hydrops fetalis, nonimmuneEnrichmentHRAS, PTPN112.07
173Hypophosphatemic ricketsEnrichmentFGF231.99
174Fibromatosis, gingival, 1EnrichmentSOS11.97
175Costello syndromeEnrichmentHRAS1.97
176Ovarian germ cell cancerEnrichmentCBL1.97
177Waardenburg syndrome, type 4cEnrichmentPOLR2F1.97
178Welander distal myopathyEnrichmentTIA11.97
179Noonan syndrome 8EnrichmentPIK3CA1.97
180Deafness, autosomal recessive 109EnrichmentESRP11.97
181Werner syndromeEnrichmentPTPN111.97
182Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung diseaseEnrichmentPOLR2F1.97
183Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defectsEnrichmentHNRNPH11.97
184Houge-janssens syndrome 3EnrichmentPPP2CA1.97
185Malignant germ cell tumor of ovaryEnrichmentCBL1.97
186Submucosal cleft palateEnrichmentUBB1.97
187Cleft hard palateEnrichmentUBB1.97
188Wooly hair nevusEnrichmentHRAS1.97
189HydrocephalusEnrichmentFGFR21.96
190Cervical cancerEnrichmentFGFR31.88
191Spastic paraplegia, optic atrophy, and neuropathyEnrichmentFLRT11.88
192Hypogonadotropic hypogonadism 21 with or without anosmiaEnrichmentFLRT31.88
193Cervix carcinomaEnrichmentFGFR31.88
194Interfrontal craniofaciosynostosisEnrichmentFGFR11.88
195Renal agenesis, bilateralEnrichmentFGF201.88
196Ataxia-telangiectasiaEnrichmentBRAF1.79
197Waardenburg syndrome, type 2aEnrichmentPOLR2F1.79
198Pompe disease, infantile-onsetEnrichmentPIK3CA1.79
199Uvula, bifidEnrichmentUBB1.79
200Nuchal bleb, familialEnrichmentSOS11.79
201Cleft soft palateEnrichmentUBB1.79
202Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.79
203Tethered spinal cord syndromeEnrichmentBRAF1.79
204Distal myopathyEnrichmentHNRNPA11.79
205Inclusion body myopathy with paget disease of bone and frontotemporal dementiaEnrichmentHNRNPA11.79
206Immunodeficiency 14EnrichmentPIK3R11.79
207Tricuspid valve insufficiencyEnrichmentPTPN111.79
208KeratoacanthomaEnrichmentPIK3CA1.79
209Leukemia, acute myeloidEnrichmentKRAS, NRAS1.71
210AchondroplasiaEnrichmentFGFR31.71
211Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR11.71
212Larsen syndromeEnrichmentFGFR31.71
213Chromosome 8p11 myeloproliferative syndromeEnrichmentFGFR11.71
214HamartomaEnrichmentFGFR31.71
215Testicular germ cell cancerEnrichmentFGFR31.71
216Testicular cancerEnrichmentFGFR31.71
217Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS1.67
218Thyroid cancer, nonmedullary, 1EnrichmentBRAF1.67
219Intellectual developmental disorder, x-linked, syndromic, bain typeEnrichmentHNRNPH11.67
220Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3CA1.67
221Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.67
222Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalitiesEnrichmentPOLR2A1.67
223Lung sarcomatoid carcinomaEnrichmentKRAS1.67
224Cerebrovascular diseaseEnrichmentPIK3CA1.67
225CraniopharyngiomaEnrichmentBRAF1.67
226Pilocytic astrocytomaEnrichmentKRAS1.67
227Newborn respiratory distress syndromeEnrichmentBRAF1.67
228Epidermolytic nevusEnrichmentHRAS1.67
229Familial cerebral cavernous malformationsEnrichmentPIK3CA1.67
230Intellectual disability, x-linked, syndromic, bain typeEnrichmentHNRNPH11.67
231Gingival fibromatosisEnrichmentSOS11.67
232Septopreoptic holoprosencephalyEnrichmentFGF81.66
233Midline interhemispheric variant of holoprosencephalyEnrichmentFGF81.66
234Hereditary breast carcinomaEnrichmentKRAS, PIK3CA1.63
235Alobar holoprosencephalyEnrichmentFGF81.61
236Non-syndromic bicoronal craniosynostosisEnrichmentFGFR31.59
237Capillary malformations, congenitalEnrichmentPIK3CA1.57
238LymphomaEnrichmentPTPN111.57
239Myeloproliferative neoplasmEnrichmentCBL1.57
240HemimegalencephalyEnrichmentPIK3CA1.57
241Aggressive systemic mastocytosisEnrichmentCBL1.57
242ThrombocytopeniaEnrichmentPTPN11, SRC1.56
243HypertelorismEnrichmentFGFR2, PIK3CA1.50
244Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.50
245Cowden syndrome 1EnrichmentPIK3CA1.50
246Hemihyperplasia, isolatedEnrichmentPIK3CA1.50
247Waardenburg syndrome, type 4aEnrichmentPOLR2F1.50
248Wilms tumor 5EnrichmentBRAF1.50
249Patent ductus arteriosusEnrichmentPTPN111.50
250Waardenburg syndromeEnrichmentPOLR2F1.50
251Cleft lip with or without cleft palateEnrichmentESRP21.50
252Martsolf syndrome 1EnrichmentANOS11.49
253Pseudovaginal perineoscrotal hypospadiasEnrichmentANOS11.49
254Primary hypereosinophilic syndromeEnrichmentFGFR11.49
255Familial cerebral saccular aneurysmEnrichmentTGFBR31.49
256Waardenburg syndrome, type 1EnrichmentPOLR2F1.43
257MyelofibrosisEnrichmentSRC1.43
258Waardenburg syndrome, type 2eEnrichmentPOLR2F1.43
259Overgrowth syndromeEnrichmentPIK3R11.43
260Testicular germ cell tumorEnrichmentFGFR31.41
26146,xy disorder of sex developmentEnrichmentFGFR31.41
262Lymphoma, non-hodgkin, familialEnrichmentBRAF1.37
263Oculopharyngodistal myopathy 1EnrichmentGIPC11.35
264Cardiomyopathy, familial hypertrophic, 4EnrichmentBRAF1.32
265Adult hepatocellular carcinomaEnrichmentPIK3CA1.32
266Primary hyperaldosteronismEnrichmentBRAF1.32
267Ventricular septal defectEnrichmentBRAF1.32
268Cowden syndromeEnrichmentPIK3CA1.32
269MelanomaEnrichmentBRAF1.28
270Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R11.28
271Neurofibromatosis, type iEnrichmentSPRED11.24
272Pectus excavatumEnrichmentPTPN111.24
273EpicanthusEnrichmentPTPN111.20
274MeningiomaEnrichmentPIK3CA1.20
275Congenital long qt syndromeEnrichmentPTPN111.20
276Primary bone dysplasiaEnrichmentFGFR31.20
277Aortic valve disease 1EnrichmentSOS11.17
278Protein-deficiency anemiaEnrichmentNRAS1.17
279OsteochondrodysplasiaEnrichmentFGFR31.16
280OsteoporosisEnrichmentSRC1.14
28146,xy partial gonadal dysgenesisEnrichmentSOS11.14
282Septooptic dysplasiaEnrichmentFGFR11.12
283Renal hypodysplasia/aplasia 3EnrichmentFGFR31.12
284Wilms tumor 1EnrichmentBRAF1.11
285Melanoma, cutaneous malignant 1EnrichmentBRAF1.06
286Dandy-walker syndromeEnrichmentBRAF1.06
287Heart, malformation ofEnrichmentMAPK11.03
288Patent foramen ovaleEnrichmentPTPN111.03
289Male infertility with spermatogenesis disorderEnrichmentSPRED11.03
290Diffuse large b-cell lymphomaEnrichmentBRAF1.01
291Esophageal atresia/tracheoesophageal fistulaEnrichmentPOLR2B1.01
292Ovarian cancerEnrichmentKRAS, PIK3CA0.99
293Hepatocellular carcinomaEnrichmentPIK3CA0.95
294ScoliosisEnrichmentPTPN110.92
295Pancreatic cancerEnrichmentKRAS0.90
296HepatoblastomaEnrichmentFGFR30.89
297Tooth agenesisEnrichmentFGFR10.87
298StrabismusEnrichmentPTPN110.87
299MicrocephalyEnrichmentMAPK1, PTPN110.85
300Hirschsprung disease 1EnrichmentPOLR2F0.84
301Prostate cancerEnrichmentPIK3CA0.84
302Long qt syndrome 1EnrichmentPTPN110.83
303Connective tissue diseaseEnrichmentFGFR30.72
304Hypertrophic cardiomyopathyEnrichmentPTPN110.68
305Hereditary breast ovarian cancer syndromeEnrichmentKRAS0.59
306Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentHNRNPA10.57
307Rare genetic deafnessEnrichmentPOLR2F0.46
308Dilated cardiomyopathyEnrichmentBRAF0.45
309Autism spectrum disorderEnrichmentPTPN110.35
310Complex neurodevelopmental disorderEnrichmentPPP2CA0.31
311Congenital nervous system abnormalityEnrichmentFGFR30.30
312Nervous system diseaseEnrichmentFGFR30.30
313Inherited cancer-predisposing syndromeEnrichmentPTPN110.29

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