Development FGFR signaling pathway

Pathway network for the Development FGFR signaling pathway SuperPath

Sources:
  • GeneGo (Thomson Reuters)
  • QIAGEN

Pathways in the Development FGFR signaling pathway SuperPath

#NameSourceGenes
1Development FGFR signaling pathwayGeneGo (Thomson Reuters)
2FGF PathwayQIAGEN
3Development FGF-family signalingGeneGo (Thomson Reuters)
4Development Flt3 signalingGeneGo (Thomson Reuters)

Gene overlap in member pathways for Development FGFR signaling pathway SuperPath

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

Disorders associated with Development FGFR signaling pathway SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1RasopathyEnrichmentCBL, HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1, SOS216.00
2Noonan syndrome 1EnrichmentHRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS, RRAS2, SOS1, SOS216.00
3Noonan syndrome and noonan-related syndromeEnrichmentCBL, HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS111.63
4Noonan syndrome 3EnrichmentHRAS, PTPN11, RAF1, SOS18.14
5Lacrimoauriculodentodigital syndrome 1EnrichmentFGF10, FGFR2, FGFR37.22
6Nevus, epidermalEnrichmentFGFR3, HRAS, KRAS, NRAS7.20
7Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3CA, PIK3R26.65
8Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCBL, CDC42, PTPN116.65
9Lung non-small cell carcinomaEnrichmentHRAS, KRAS, MAP2K1, NRAS6.24
10Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS5.95
11Cardiofaciocutaneous syndrome 1EnrichmentKRAS, MAP2K1, MAP2K25.95
12Cardiofaciocutaneous syndromeEnrichmentKRAS, MAP2K1, MAP2K25.95
13Arteriovenous malformationEnrichmentHRAS, MAP2K1, PIK3CA5.33
14Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K1, PIK3CA5.18
15Specific learning disabilityEnrichmentMAPK1, PTPN11, RPS6KA35.04
16Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, MAP2K1, RASA15.01
17Pilomyxoid astrocytomaEnrichmentFGFR1, KRAS, RAF15.01
18Immune system diseaseEnrichmentCDC42, PIK3CD4.82
19Melanocytic nevus syndrome, congenitalEnrichmentHRAS, NRAS, RAF14.81
20Keratosis, seborrheicEnrichmentFGFR3, PIK3CA4.81
21Pfeiffer syndromeEnrichmentFGFR1, FGFR24.81
22Jackson-weiss syndromeEnrichmentFGFR1, FGFR24.81
23Rosette-forming glioneuronal tumorEnrichmentFGFR1, PIK3CA4.81
24Colorectal cancerEnrichmentAKT1, FGFR2, FGFR3, PIK3CA, PIK3R14.62
25Encephalocraniocutaneous lipomatosisEnrichmentFGFR1, KRAS4.36
26Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS4.36
27Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R14.35
28Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R14.35
29Immunodeficiency 14EnrichmentPIK3CD, PIK3R14.35
30Crouzon syndromeEnrichmentFGFR2, FGFR34.33
31SpermatocytomaEnrichmentFGFR3, HRAS4.33
32Juvenile myelomonocytic leukemiaEnrichmentKRAS, NRAS, RRAS4.23
33Chromosome 22q11.2 deletion syndrome, distalEnrichmentCRKL, MAPK14.05
34Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R24.05
35Noonan syndrome with multiple lentiginesEnrichmentPTPN11, RAF14.05
36Saethre-chotzen syndromeEnrichmentFGFR2, FGFR34.03
37Langerhans cell histiocytosisEnrichmentMAP2K1, NRAS3.89
38Large congenital melanocytic nevusEnrichmentHRAS, NRAS3.89
39HemimegalencephalyEnrichmentAKT3, PIK3CA3.83
40Hemifacial hyperplasiaEnrichmentFGFR2, FGFR33.81
41HoloprosencephalyEnrichmentFGF8, FGFR13.81
42Bladder cancerEnrichmentFGFR3, HRAS, PIK3CA3.69
43Breast cancerEnrichmentAKT1, JUN, PIK3CA, SHC13.69
44Normosmic congenital hypogonadotropic hypogonadismEnrichmentFGF17, FGF8, FGFR13.67
45Breast adenocarcinomaEnrichmentAKT1, PIK3CA3.65
46Holoprosencephaly 1EnrichmentFGF8, FGFR13.64
47Lung squamous cell carcinomaEnrichmentFGFR3, PIK3CA3.64
48Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS3.59
49Kallmann syndromeEnrichmentFGF17, FGF8, FGFR13.34
50Cowden syndromeEnrichmentAKT1, PIK3CA3.28
51Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3CD, PIK3R13.18
52Thyroid cancer, nonmedullary, 2EnrichmentHRAS, NRAS3.05
53Leukemia, chronic myeloidEnrichmentKRAS, NRAS3.05
54Follicular thyroid carcinomaEnrichmentHRAS, NRAS3.05
55Differentiated thyroid carcinomaEnrichmentHRAS, KRAS, NRAS3.04
56MeningiomaEnrichmentAKT1, PIK3CA3.02
57Lip and oral cavity carcinomaEnrichmentHRAS, PIK3CA3.02
58Congenital long qt syndromeEnrichmentITPR3, PTPN113.00
5946,xy partial gonadal dysgenesisEnrichmentMAP3K1, SOS12.88
60RhabdomyosarcomaEnrichmentCBL, HRAS2.76
61GliosarcomaEnrichmentFGFR1, FGFR32.74
62Microform holoprosencephalyEnrichmentFGF8, FGFR12.74
63Lobar holoprosencephalyEnrichmentFGF8, FGFR12.74
64Giant cell glioblastomaEnrichmentFGFR1, FGFR32.69
65Semilobar holoprosencephalyEnrichmentFGF8, FGFR12.64
66CraniosynostosisEnrichmentFGFR2, FGFR32.55
67Endometrial cancerEnrichmentFGFR2, PIK3CA2.51
68Lung cancer susceptibility 3EnrichmentFGF10, KRAS2.42
69MacrodactylyEnrichmentPIK3CA2.41
70Proteus syndromeEnrichmentAKT12.41
71MetachondromatosisEnrichmentPTPN112.41
72Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT22.41
73Coffin-lowry syndromeEnrichmentRPS6KA32.41
74Deafness, autosomal recessive 26EnrichmentGAB12.41
75Noonan syndrome 5EnrichmentRAF12.41
76Noonan syndrome 4EnrichmentSOS12.41
77Melorheostosis, isolatedEnrichmentMAP2K12.41
78Megalencephaly, autosomal dominantEnrichmentPIK3CA2.41
79Leopard syndrome 1EnrichmentPTPN112.41
80Cardiomyopathy, dilated, 1nnEnrichmentRAF12.41
81Cowden syndrome 5EnrichmentPIK3CA2.41
82Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.41
83Noonan syndrome 9EnrichmentSOS22.41
8446,xy sex reversal 6EnrichmentMAP3K12.41
85Cerebral cavernous malformations 4EnrichmentPIK3CA2.41
86Noonan syndrome 13EnrichmentMAPK12.41
87Short syndromeEnrichmentPIK3R12.41
88Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK12.41
89Intellectual developmental disorder, x-linked 19EnrichmentRPS6KA32.41
90Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT32.41
91Hemifacial myohyperplasiaEnrichmentPIK3CA2.41
92Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.41
93MelorheostosisEnrichmentMAP2K12.41
94Leopard syndrome 2EnrichmentRAF12.41
95Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.41
96Cardiofaciocutaneous syndrome 4EnrichmentMAP2K22.41
97Cowden syndrome 6EnrichmentAKT12.41
98Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD2.41
99Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.41
100Acute myeloid leukemia with minimal differentiationEnrichmentFLT32.41
101Thrombocytopenia 6EnrichmentSRC2.41
102Takenouchi-kosaki syndromeEnrichmentCDC422.41
103TrigonitisEnrichmentRAF12.41
104Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.41
105Immunodeficiency 125EnrichmentFLT3LG2.41
106Symptomatic form of coffin-lowry syndrome in female carriersEnrichmentRPS6KA32.41
107HypospadiasEnrichmentPIK3CA2.41
108Capillary hemangiomaEnrichmentAKT32.41
109Rare venous malformationEnrichmentPIK3CA2.41
110Diaphragmatic eventrationEnrichmentPIK3CA2.41
111Nocarh syndromeEnrichmentCDC422.41
112Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.41
113Rare combined vascular malformationEnrichmentPIK3CA2.41
114Cavernous lymphangiomaEnrichmentPIK3CA2.41
115Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.41
116Phakomatosis pigmentokeratoticaEnrichmentHRAS2.41
117Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC12.41
118Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.41
119Eccrine angiomatous hamartomaEnrichmentPIK3CA2.41
120Macrodactyly of toeEnrichmentPIK3CA2.41
121Akt2-related familial partial lipodystrophyEnrichmentAKT22.41
122Malignant astrocytomaEnrichmentPTPN112.41
123Anhidrosis, isolated, with normal sweat glandsEnrichmentITPR22.40
124HypochondroplasiaEnrichmentFGFR32.40
125Beare-stevenson cutis gyrata syndromeEnrichmentFGFR22.40
126Osteoglophonic dysplasiaEnrichmentFGFR12.40
127Thanatophoric dysplasia, type iEnrichmentFGFR32.40
128Trigonocephaly 1EnrichmentFGFR12.40
129Muenke syndromeEnrichmentFGFR32.40
130Scaphocephaly, maxillary retrusion, and impaired intellectual developmentEnrichmentFGFR22.40
131Apert syndromeEnrichmentFGFR22.40
132Thanatophoric dysplasia, type iiEnrichmentFGFR32.40
133Camptodactyly, tall stature, and hearing loss syndromeEnrichmentFGFR32.40
134Aplasia of lacrimal and salivary glandsEnrichmentFGF102.40
135Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD2.40
136Bent bone dysplasia syndrome 1EnrichmentFGFR22.40
137Charcot-marie-tooth disease, demyelinating, type 1jEnrichmentITPR32.40
138Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG12.40
139Metacarpal 4-5 fusionEnrichmentFGF162.40
140Lacrimoauriculodentodigital syndrome 3EnrichmentFGF102.40
141Crouzon syndrome with acanthosis nigricansEnrichmentFGFR32.40
142Multiple synostoses syndrome 3EnrichmentFGF92.40
143Hypogonadotropic hypogonadism 6 with or without anosmiaEnrichmentFGF82.40
144Achondroplasia, severe, with developmental delay and acanthosis nigricansEnrichmentFGFR32.40
145Hartsfield syndromeEnrichmentFGFR12.40
146Lacrimoauriculodentodigital syndrome 2EnrichmentFGFR32.40
147Short-rib thoracic dysplasia 22 without polydactylyEnrichmentFGF42.40
148Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathyEnrichmentITPR32.40
149Fgfr3-related chondrodysplasiaEnrichmentFGFR32.40
150Camptodactyly-tall stature-scoliosis-hearing loss syndromeEnrichmentFGFR32.40
151Hartsfield-bixler-demyer syndromeEnrichmentFGFR12.40
152Non-syndromic unicoronal craniosynostosisEnrichmentFGFR22.40
153Interstitial lung disease specific to childhoodEnrichmentFGF102.40
154Deafness, autosomal recessive 102EnrichmentEPS82.35
155Temporomandibular joint anomalyEnrichmentDOCK12.35
156Hydrops fetalis, nonimmuneEnrichmentHRAS, PTPN112.34
157Myeloma, multipleEnrichmentFGFR3, KRAS, PIK3R22.22
158Long qt syndrome 1EnrichmentITPR3, PTPN112.20
159Non-immune hydrops fetalisEnrichmentHRAS, PTPN112.19
160Cystic angiomatosis of bone, diffuseEnrichmentRASA12.18
161Spinocerebellar ataxia 27aEnrichmentFGF142.18
162Oculoectodermal syndromeEnrichmentKRAS2.18
163Cardiac valvular dysplasia 1EnrichmentPLD12.18
164Melanosis, neurocutaneousEnrichmentNRAS2.18
165Noonan syndrome 6EnrichmentNRAS2.18
166Hypogonadotropic hypogonadism 20 with or without anosmiaEnrichmentFGF172.18
167Ataxia-oculomotor apraxia 3EnrichmentPIK3R52.18
168Hiatt-neu-cooper neurodevelopmental syndromeEnrichmentRALA2.18
169Noonan syndrome 11EnrichmentMRAS2.18
170Intellectual developmental disorder, x-linked 110EnrichmentFGF132.18
171Spinocerebellar ataxia 27b, late-onsetEnrichmentFGF142.18
172Developmental and epileptic encephalopathy 90EnrichmentFGF132.18
173Familial isolated trichomegalyEnrichmentFGF52.18
174Cardiofaciocutaneous syndrome 2EnrichmentKRAS2.18
175Spinocerebellar ataxia 14EnrichmentPRKCG2.18
176Autoinflammation, antibody deficiency, and immune dysregulationEnrichmentPLCG22.18
177Familial cold autoinflammatory syndrome 3EnrichmentPLCG22.18
178Congenital heart defects and ectodermal dysplasiaEnrichmentPRKD12.18
179Tumoral calcinosis, hyperphosphatemic, familial, 2EnrichmentFGF232.18
180Renal hypodysplasia/aplasia 2EnrichmentFGF202.18
181Developmental and epileptic encephalopathy 47EnrichmentFGF122.18
182Congenital pulmonary airway malformationEnrichmentKRAS2.18
183Cerebral cavernous malformations 5EnrichmentMAP3K32.18
184Gorham's diseaseEnrichmentRASA12.18
185Spinocerebellar ataxia type 27bEnrichmentFGF142.18
186Malignant epithelial tumor of salivary glandsEnrichmentPRKD12.18
187Verrucous hemangiomaEnrichmentMAP3K32.18
188Neurocutaneous melanocytosisEnrichmentNRAS2.18
189Ovarian cancerEnrichmentAKT1, MAP3K1, PIK3CA2.14
190Fibromatosis, gingival, 1EnrichmentSOS12.11
191Costello syndromeEnrichmentHRAS2.11
192Ovarian germ cell cancerEnrichmentCBL2.11
193Pulmonic stenosisEnrichmentSOS12.11
194Roifman-chitayat syndromeEnrichmentPIK3CD2.11
195Noonan syndrome 8EnrichmentPIK3CA2.11
196Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC12.11
197Werner syndromeEnrichmentPTPN112.11
198Senior-loken syndrome 7EnrichmentAKT32.11
199Bardet-biedl syndrome 16EnrichmentAKT32.11
200Acute myeloid leukemia without maturationEnrichmentFLT32.11
201Malignant germ cell tumor of ovaryEnrichmentCBL2.11
202Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)EnrichmentFLT32.11
203Tafro syndromeEnrichmentMAP2K22.11
204Wooly hair nevusEnrichmentHRAS2.11
205Spinocerebellar ataxia 29EnrichmentITPR12.10
206Otodental dysplasiaEnrichmentFGF32.10
207Pulmonary hypoplasia, primaryEnrichmentFGF102.10
208Cervical cancerEnrichmentFGFR32.10
209Aural atresia, congenitalEnrichmentFGFR22.10
210Deafness, congenital, with inner ear agenesis, microtia, and microdontiaEnrichmentFGF32.10
211Schwartz-jampel syndrome, type 1EnrichmentHSPG22.10
212Antley-bixler syndrome without genital anomalies or disordered steroidogenesisEnrichmentFGFR22.10
213Split hand-foot malformationEnrichmentFGFR22.10
214Cervix carcinomaEnrichmentFGFR32.10
215Interfrontal craniofaciosynostosisEnrichmentFGFR12.10
216Autosomal dominant nonsyndromic deafnessEnrichmentFGFR22.10
217Oculootodental syndromeEnrichmentFGF32.10
218Histiocytoma, angiomatoid fibrousEnrichmentCREB12.05
219Submucosal cleft palateEnrichmentUBB2.05
220Cleft hard palateEnrichmentUBB2.05
221Pompe disease, infantile-onsetEnrichmentPIK3CA1.93
222Nuchal bleb, familialEnrichmentSOS11.93
223Tricuspid valve insufficiencyEnrichmentPTPN111.93
224Mixed phenotype acute leukemia with tEnrichmentFLT31.93
225KeratoacanthomaEnrichmentPIK3CA1.93
226AchondroplasiaEnrichmentFGFR31.92
227Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR11.92
228Larsen syndromeEnrichmentFGFR31.92
229Dyssegmental dysplasia, silverman-handmaker typeEnrichmentHSPG21.92
230Gillespie syndromeEnrichmentITPR11.92
231Chromosome 8p11 myeloproliferative syndromeEnrichmentFGFR11.92
232HamartomaEnrichmentFGFR31.92
233Testicular germ cell cancerEnrichmentFGFR31.92
234Testicular cancerEnrichmentFGFR31.92
235Gastric cancerEnrichmentFGFR2, PIK3CA1.90
236Hereditary breast carcinomaEnrichmentAKT1, PIK3CA1.89
237TrichomegalyEnrichmentFGF51.88
238Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R51.88
239Charcot-marie-tooth disease, demyelinating, type 4fEnrichmentPLD31.88
240Noonan syndrome 12EnrichmentRRAS21.88
241Spinocerebellar ataxia 46EnrichmentPLD31.88
242Charcot-marie-tooth disease type 4fEnrichmentPLD31.88
243Uvula, bifidEnrichmentUBB1.87
244Cleft soft palateEnrichmentUBB1.87
245Melanoma of soft tissueEnrichmentCREB11.87
246ThrombocytopeniaEnrichmentPTPN11, SRC1.82
247Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.81
248Chronic myelomonocytic leukemiaEnrichmentFLT31.81
249Cerebrovascular diseaseEnrichmentPIK3CA1.81
250Epidermolytic nevusEnrichmentHRAS1.81
251Familial cerebral cavernous malformationsEnrichmentPIK3CA1.81
252Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentFLT31.81
253Gingival fibromatosisEnrichmentSOS11.81
254Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS21.81
255Spinocerebellar ataxia 15EnrichmentITPR11.80
256Multiple synostoses syndromeEnrichmentFGF91.80
257Non-syndromic bicoronal craniosynostosisEnrichmentFGFR31.80
258GliomaEnrichmentFGFR21.80
259HypertelorismEnrichmentPIK3CA, RPS6KA31.76
260Capillary malformations, congenitalEnrichmentPIK3CA1.71
261LymphomaEnrichmentPTPN111.71
262Acute myeloid leukemia with maturationEnrichmentFLT31.71
263Myeloproliferative neoplasmEnrichmentCBL1.71
264Aggressive systemic mastocytosisEnrichmentCBL1.71
265Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentFLT31.71
266Primary hypereosinophilic syndromeEnrichmentFGFR11.70
267Tumoral calcinosis, hyperphosphatemic, familial, 1EnrichmentFGF231.70
268Hypophosphatemic rickets, autosomal dominantEnrichmentFGF231.70
269Succinic semialdehyde dehydrogenase deficiencyEnrichmentGPLD11.70
270Wieacker-wolff syndromeEnrichmentRASA11.70
271Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentFGF8, PTPN111.68
272Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.63
273Cowden syndrome 1EnrichmentPIK3CA1.63
274Hemihyperplasia, isolatedEnrichmentPIK3CA1.63
275Patent ductus arteriosusEnrichmentPTPN111.63
276Split-hand/foot malformation 1EnrichmentFGFR21.63
277Testicular germ cell tumorEnrichmentFGFR31.63
278Spinocerebellar ataxia, autosomal recessive 16EnrichmentITPR11.63
27946,xy disorder of sex developmentEnrichmentFGFR31.63
280Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS1.58
281Lung sarcomatoid carcinomaEnrichmentKRAS1.58
282Hereditary ataxiaEnrichmentPRKCG1.58
283Pilocytic astrocytomaEnrichmentKRAS1.58
284MyelofibrosisEnrichmentSRC1.57
285Gallbladder cancerEnrichmentPIK3CA1.57
286MegacolonEnrichmentAKT31.57
287Overgrowth syndromeEnrichmentPIK3R11.57
288B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentFLT31.57
289Leukemia, acute myeloidEnrichmentKRAS, NRAS1.54
290Gastroesophageal refluxEnrichmentRPS6KA31.51
291Orthostatic intoleranceEnrichmentRPS6KA31.51
292Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC11.46
293Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentFLT31.46
294Adult hepatocellular carcinomaEnrichmentPIK3CA1.46
295Ventricular septal defectEnrichmentRPS6KA31.46
296Orofacial cleft 1EnrichmentFGF101.45
297Hypogonadotropic hypogonadismEnrichmentFGFR11.45
298Lennox-gastaut syndromeEnrichmentMAPK101.45
299PolymicrogyriaEnrichmentAKT31.42
300Meier-gorlin syndrome 1EnrichmentFGFR21.41
301Primary bone dysplasiaEnrichmentFGFR31.41
302Telangiectasia, hereditary hemorrhagic, type 1EnrichmentRASA11.41
303Hemangioma, capillary infantileEnrichmentRASA11.41
304Basal cell carcinoma 1EnrichmentRASA11.41
305Pectus excavatumEnrichmentPTPN111.38
306Leukemia, acute lymphoblasticEnrichmentFLT31.38
30746,xy complete gonadal dysgenesisEnrichmentMAP3K11.38
308OsteochondrodysplasiaEnrichmentFGFR31.37
309Hereditary hemorrhagic telangiectasiaEnrichmentRASA11.34
310Hypophosphatemic ricketsEnrichmentFGF231.34
311EpicanthusEnrichmentPTPN111.34
312Septooptic dysplasiaEnrichmentFGFR11.33
313Renal hypodysplasia/aplasia 3EnrichmentFGFR31.33
314Aortic valve disease 1EnrichmentSOS11.30
315Nk-cell enteropathyEnrichmentPIK3CB1.30
316Chromosome 1p36 deletion syndromeEnrichmentHSPG21.30
317OsteoporosisEnrichmentSRC1.27
318Multiple sclerosisEnrichmentITPR11.26
319Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentFGFR11.26
320Lynch syndromeEnrichmentPIK3CA1.24
321HydrocephalusEnrichmentFGFR21.24
322Anterior segment dysgenesisEnrichmentITPR11.24
323Septopreoptic holoprosencephalyEnrichmentFGF81.24
324Midline interhemispheric variant of holoprosencephalyEnrichmentFGF81.24
325Inflammatory bowel disease 1EnrichmentPRKCQ1.24
326Renal agenesis, bilateralEnrichmentFGF201.24
327Stroke, ischemicEnrichmentPRKCH1.19
328Alobar holoprosencephalyEnrichmentFGF81.18
329Autism spectrum disorderEnrichmentMAP2K1, PTPN111.17
330Heart, malformation ofEnrichmentMAPK11.17
331Patent foramen ovaleEnrichmentPTPN111.17
332HepatoblastomaEnrichmentFGFR31.09
333Hepatocellular carcinomaEnrichmentPIK3CA1.08
334Protein-deficiency anemiaEnrichmentNRAS1.08
335MicrocephalyEnrichmentMAPK1, PTPN111.08
336Tooth agenesisEnrichmentFGFR11.08
337Precursor t-cell acute lymphoblastic leukemiaEnrichmentFLT31.06
338Generalized epilepsy with febrile seizures plusEnrichmentFGF131.05
339Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF11.05
340ScoliosisEnrichmentPTPN111.05
341StrabismusEnrichmentPTPN111.00
342Prostate cancerEnrichmentPIK3CA0.97
343Charcot-marie-tooth disease type 4EnrichmentPLD30.95
344Lung cancerEnrichmentPIK3CA0.93
345Arteriovenous malformations of the brainEnrichmentKRAS0.92
346Connective tissue diseaseEnrichmentFGFR30.92
347Familial hypertrophic cardiomyopathyEnrichmentRAF10.92
348Left ventricular noncompactionEnrichmentRAF10.89
349Non-syndromic x-linked intellectual disabilityEnrichmentRPS6KA30.88
350Type 2 diabetes mellitusEnrichmentAKT20.82
351Pancreatic cancerEnrichmentKRAS0.81
352Hypertrophic cardiomyopathyEnrichmentPTPN110.81
353Familial isolated dilated cardiomyopathyEnrichmentRAF10.73
354Spastic ataxiaEnrichmentITPR10.72
355Charcot-marie-tooth diseaseEnrichmentPLD30.62
356Deafness, autosomal recessiveEnrichmentEPS80.61
357Autosomal recessive nonsyndromic deafnessEnrichmentEPS80.60
358Dilated cardiomyopathyEnrichmentRAF10.57
359Hereditary breast ovarian cancer syndromeEnrichmentKRAS0.51
360Undetermined early-onset epileptic encephalopathyEnrichmentFGF120.51
361Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentEPS80.48
362Congenital nervous system abnormalityEnrichmentFGFR30.46
363Nervous system diseaseEnrichmentFGFR30.46
364Inherited cancer-predisposing syndromeEnrichmentPTPN110.39
365Complex neurodevelopmental disorderEnrichmentRALA0.25

Loading...
Loading...
Loading...