Regulation of actin cytoskeleton

No Pathway Network information available for Regulation of actin cytoskeleton

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

Disorders associated with Regulation of actin cytoskeleton SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1RasopathyEnrichmentBRAF, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS2, SOS1, SOS216.00
2Noonan syndrome 1EnrichmentBRAF, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS, RRAS2, SOS1, SOS210.50
3Noonan syndrome and noonan-related syndromeEnrichmentBRAF, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS19.90
4Lung non-small cell carcinomaEnrichmentBRAF, EGFR, KRAS, MAP2K1, NRAS, PIK3CA9.12
5Cardiofaciocutaneous syndrome 1EnrichmentBRAF, KRAS, MAP2K1, MAP2K27.83
6Cardiofaciocutaneous syndromeEnrichmentBRAF, KRAS, MAP2K1, MAP2K27.83
7Lung squamous cell carcinomaEnrichmentEGFR, FGFR3, KRAS, PIK3CA6.66
8Nevus, epidermalEnrichmentFGFR3, KRAS, NRAS, PIK3CA6.30
9Pilomyxoid astrocytomaEnrichmentBRAF, FGFR1, KRAS, RAF16.30
10Lacrimoauriculodentodigital syndrome 1EnrichmentFGF10, FGFR2, FGFR35.87
11Langerhans cell histiocytosisEnrichmentBRAF, MAP2K1, NRAS5.87
12Primary hypereosinophilic syndromeEnrichmentFGFR1, PDGFRA, PDGFRB4.88
13Lung cancer susceptibility 3EnrichmentBRAF, EGFR, FGF10, KRAS4.87
14Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, MAP2K1, PIK3CA4.34
15Noonan syndrome 3EnrichmentKRAS, RAF1, SOS14.34
16Gallbladder cancerEnrichmentBRAF, KRAS, PIK3CA4.34
17Colorectal cancerEnrichmentAPC, BRAF, FGFR2, FGFR3, NRAS, PIK3CA, PIK3R14.29
18Melanocytic nevus syndrome, congenitalEnrichmentBRAF, NRAS, RAF14.14
19Pulmonic stenosisEnrichmentBRAF, SOS13.91
20Keratosis, seborrheicEnrichmentFGFR3, PIK3CA3.91
21Pfeiffer syndromeEnrichmentFGFR1, FGFR23.91
22Jackson-weiss syndromeEnrichmentFGFR1, FGFR23.91
23Encephalocraniocutaneous lipomatosisEnrichmentFGFR1, KRAS3.91
24Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS3.91
25Rosette-forming glioneuronal tumorEnrichmentFGFR1, PIK3CA3.91
26Immune system diseaseEnrichmentCDC42, PIK3CD3.91
27Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG13.91
28Juvenile myelomonocytic leukemiaEnrichmentKRAS, NRAS, RRAS3.56
29Lip and oral cavity carcinomaEnrichmentBRAF, EGFR, PIK3CA3.56
30Bladder cancerEnrichmentEGFR, FGFR3, KRAS, PIK3CA3.55
31Crouzon syndromeEnrichmentFGFR2, FGFR33.44
32Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R13.44
33Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R13.44
34Immunodeficiency 14EnrichmentPIK3CD, PIK3R13.44
35Lung cancerEnrichmentBRAF, EGFR, KRAS, PIK3CA3.38
36GliosarcomaEnrichmentEGFR, FGFR1, FGFR33.17
37Schimmelpenning-feuerstein-mims syndromeEnrichmentKRAS, NRAS3.14
38Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3CA, PIK3R23.14
39Saethre-chotzen syndromeEnrichmentFGFR2, FGFR33.14
40Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS3.14
41CraniopharyngiomaEnrichmentAPC, BRAF3.14
42Noonan syndrome with multiple lentiginesEnrichmentBRAF, RAF13.14
43Giant cell glioblastomaEnrichmentEGFR, FGFR1, FGFR33.09
44Ovarian cancerEnrichmentAPC, EGFR, KRAS, PDGFRA, PIK3CA, RRAS23.04
45Normosmic congenital hypogonadotropic hypogonadismEnrichmentFGF17, FGF8, FGFR13.01
46Arteriovenous malformations of the brainEnrichmentBRAF, EGFR, KRAS2.94
47Hemifacial hyperplasiaEnrichmentFGFR2, FGFR32.92
48HoloprosencephalyEnrichmentFGF8, FGFR12.92
49Gastric cancerEnrichmentAPC, FGFR2, KRAS, PIK3CA2.89
50Cowden syndrome 1EnrichmentEGFR, PIK3CA2.75
51Hemihyperplasia, isolatedEnrichmentPIK3CA, RHOA2.75
52Holoprosencephaly 1EnrichmentFGF8, FGFR12.75
53Breast adenocarcinomaEnrichmentKRAS, PIK3CA2.75
54Kallmann syndromeEnrichmentFGF17, FGF8, FGFR12.69
55Thyroid cancer, nonmedullary, 2EnrichmentBRAF, NRAS2.60
56Leukemia, chronic myeloidEnrichmentKRAS, NRAS2.60
57Follicular thyroid carcinomaEnrichmentBRAF, NRAS2.60
58Basal ganglia calcification, idiopathic, 1EnrichmentPDGFB, PDGFRB2.48
59Myeloma, multipleEnrichmentBRAF, FGFR3, KRAS, PIK3R22.46
60Differentiated thyroid carcinomaEnrichmentBRAF, KRAS, NRAS2.40
61Arteriovenous malformationEnrichmentMAP2K1, PIK3CA2.38
62Adult hepatocellular carcinomaEnrichmentEGF, PIK3CA2.38
63Myopathy, x-linked, with excessive autophagyEnrichmentMAP2K1, PIK3CA2.28
64Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3CD, PIK3R12.28
65MeningiomaEnrichmentPDGFB, PIK3CA2.12
66HypochondroplasiaEnrichmentFGFR31.95
67MacrodactylyEnrichmentPIK3CA1.95
68Beare-stevenson cutis gyrata syndromeEnrichmentFGFR21.95
69Osteoglophonic dysplasiaEnrichmentFGFR11.95
70Thanatophoric dysplasia, type iEnrichmentFGFR31.95
71Trigonocephaly 1EnrichmentFGFR11.95
72Spinocerebellar ataxia 27aEnrichmentFGF141.95
73Baraitser-winter syndrome 1EnrichmentACTB1.95
74Oculoectodermal syndromeEnrichmentKRAS1.95
75Muenke syndromeEnrichmentFGFR31.95
76Thrombocytopenia 1EnrichmentWAS1.95
77Intellectual developmental disorder, x-linked 30EnrichmentPAK31.95
78Premature aging syndrome, penttinen typeEnrichmentPDGFRB1.95
79Immunodeficiency 50EnrichmentMSN1.95
80Noonan syndrome 5EnrichmentRAF11.95
81Hypomagnesemia 4, renalEnrichmentEGF1.95
82Noonan syndrome 4EnrichmentSOS11.95
83Hypereosinophilic syndrome, idiopathicEnrichmentPDGFRA1.95
84Deafness, autosomal recessive 24EnrichmentRDX1.95
85Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosisEnrichmentRAC21.95
86Cardiomyopathy, familial hypertrophic, 8EnrichmentMYL31.95
87Scaphocephaly, maxillary retrusion, and impaired intellectual developmentEnrichmentFGFR21.95
88Melorheostosis, isolatedEnrichmentMAP2K11.95
89Megalencephaly, autosomal dominantEnrichmentPIK3CA1.95
90Prothrombin deficiency, congenitalEnrichmentF21.95
91Noonan syndrome 7EnrichmentBRAF1.95
92Leopard syndrome 3EnrichmentBRAF1.95
93Apert syndromeEnrichmentFGFR21.95
94Amyloidosis, finnish typeEnrichmentGSN1.95
95Basal ganglia calcification, idiopathic, 5EnrichmentPDGFB1.95
96Deafness, autosomal dominant 1, with or without thrombocytopeniaEnrichmentDIAPH11.95
97Cardiomyopathy, dilated, 1nnEnrichmentRAF11.95
98Cowden syndrome 5EnrichmentPIK3CA1.95
99Cardiofaciocutaneous syndrome 3EnrichmentMAP2K11.95
100Myofibromatosis, infantile, 1EnrichmentPDGFRB1.95
101Lichtenstein-knorr syndromeEnrichmentSLC9A11.95
102Melanosis, neurocutaneousEnrichmentNRAS1.95
103Thanatophoric dysplasia, type iiEnrichmentFGFR31.95
104Amyotrophic lateral sclerosis 18EnrichmentPFN11.95
105Noonan syndrome 9EnrichmentSOS21.95
106Noonan syndrome 6EnrichmentNRAS1.95
107Hypogonadotropic hypogonadism 20 with or without anosmiaEnrichmentFGF171.95
108Gist-plus syndromeEnrichmentPDGFRA1.95
109Camptodactyly, tall stature, and hearing loss syndromeEnrichmentFGFR31.95
110Ataxia-oculomotor apraxia 3EnrichmentPIK3R51.95
111Aplasia of lacrimal and salivary glandsEnrichmentFGF101.95
112Bent bone dysplasia syndrome 1EnrichmentFGFR21.95
113Immunodeficiency 62EnrichmentARHGEF11.95
114Noonan syndrome 11EnrichmentMRAS1.95
115Cerebral cavernous malformations 4EnrichmentPIK3CA1.95
116Neurodevelopmental disorder with absent language and variable seizuresEnrichmentWASF11.95
117Noonan syndrome 13EnrichmentMAPK11.95
118Intellectual developmental disorder, x-linked 110EnrichmentFGF131.95
119Spinocerebellar ataxia 27b, late-onsetEnrichmentFGF141.95
120Knobloch syndrome 2EnrichmentPAK21.95
121Neurodevelopmental disorder with structural brain anomalies and dysmorphic faciesEnrichmentRAC31.95
122Cortical dysplasia, complex, with other brain malformations 10EnrichmentAPC21.95
123Short syndromeEnrichmentPIK3R11.95
124Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK11.95
125Oocyte/zygote/embryo maturation arrest 20EnrichmentMOS1.95
126Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB1.95
127Oculoskeletodental syndromeEnrichmentPIK3C2A1.95
128Intellectual developmental disorder, x-linked 46EnrichmentARHGEF61.95
129Myeloid and lymphoid neoplasms associated with pdgfra rearrangementEnrichmentPDGFRA1.95
130Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaEnrichmentRAC21.95
131Developmental and epileptic encephalopathy 90EnrichmentFGF131.95
132Metacarpal 4-5 fusionEnrichmentFGF161.95
133Intellectual developmental disorder, autosomal recessive 74EnrichmentAPC21.95
134Lacrimoauriculodentodigital syndrome 3EnrichmentFGF101.95
135Familial isolated trichomegalyEnrichmentFGF51.95
136Nemaline myopathy 7EnrichmentCFL21.95
137Auditory neuropathy, autosomal dominant 1EnrichmentDIAPH31.95
138Cardiofaciocutaneous syndrome 2EnrichmentKRAS1.95
139Cardiomyopathy, dilated, 1wEnrichmentVCL1.95
140LymphangiomaEnrichmentBRAF1.95
141Crouzon syndrome with acanthosis nigricansEnrichmentFGFR31.95
142Hemifacial myohyperplasiaEnrichmentPIK3CA1.95
143Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA1.95
144Phace associationEnrichmentBRAF1.95
145Becker nevus syndromeEnrichmentACTB1.95
146MelorheostosisEnrichmentMAP2K11.95
147Dystonia-deafness syndrome 1EnrichmentACTB1.95
148Leopard syndrome 2EnrichmentRAF11.95
149Multiple synostoses syndrome 3EnrichmentFGF91.95
150Cardiomyopathy, familial hypertrophic, 15EnrichmentVCL1.95
151Basal ganglia calcification, idiopathic, 4EnrichmentPDGFRB1.95
152Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R11.95
153Cardiofaciocutaneous syndrome 4EnrichmentMAP2K21.95
154Bleeding disorder, platelet-type, 15EnrichmentACTN11.95
155Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD1.95
156Myeloid and lymphoid neoplasms associated with pdgfrb rearrangementEnrichmentPDGFRB1.95
157Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R11.95
158Immunodeficiency 97 with autoinflammationEnrichmentPIK3CG1.95
159Hypogonadotropic hypogonadism 6 with or without anosmiaEnrichmentFGF81.95
160Achondroplasia, severe, with developmental delay and acanthosis nigricansEnrichmentFGFR31.95
161Pregnancy loss, recurrent 2EnrichmentF21.95
162Kosaki overgrowth syndromeEnrichmentPDGFRB1.95
163Tumoral calcinosis, hyperphosphatemic, familial, 2EnrichmentFGF231.95
164Hartsfield syndromeEnrichmentFGFR11.95
165Renal hypodysplasia/aplasia 2EnrichmentFGF201.95
166Was-related disordersEnrichmentWAS1.95
167Seizures, cortical blindness, and microcephaly syndromeEnrichmentDIAPH11.95
168Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA1.95
169Takenouchi-kosaki syndromeEnrichmentCDC421.95
170Diaph1-related sensorineural hearing loss-thrombocytopenia syndromeEnrichmentDIAPH11.95
171Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB1.95
172Developmental and epileptic encephalopathy 47EnrichmentFGF121.95
173Ocular pterygium-digital keloid dysplasia syndromeEnrichmentPDGFRB1.95
174Congenital myopathy 14EnrichmentMYL11.95
175Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA1.95
176Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopeniaEnrichmentRAC21.95
177TrigonitisEnrichmentRAF11.95
178Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA1.95
179Sotos syndrome 3EnrichmentAPC21.95
180Lacrimoauriculodentodigital syndrome 2EnrichmentFGFR31.95
181Baraitser-winter syndromeEnrichmentACTB1.95
182Short-rib thoracic dysplasia 22 without polydactylyEnrichmentFGF41.95
183HypospadiasEnrichmentPIK3CA1.95
184Prothrombin deficiencyEnrichmentF21.95
185Congenital pulmonary airway malformationEnrichmentKRAS1.95
186Rare venous malformationEnrichmentPIK3CA1.95
187Familial adenomatous polyposisEnrichmentAPC1.95
188Spinocerebellar ataxia type 27bEnrichmentFGF141.95
189Diaphragmatic eventrationEnrichmentPIK3CA1.95
190Infantile lad-like disease due to rac2 deficiencyEnrichmentRAC21.95
191Fgfr3-related chondrodysplasiaEnrichmentFGFR31.95
192Congenital smooth muscle hamartomaEnrichmentACTB1.95
193Reticular dysgenesis-like severe combined immunodeficiencyEnrichmentRAC21.95
194Nocarh syndromeEnrichmentCDC421.95
195Pik3ca-related overgrowth spectrumEnrichmentPIK3CA1.95
196Syringocystadenoma papilliferumEnrichmentBRAF1.95
197Developmental malformations-deafness-dystonia syndromeEnrichmentACTB1.95
198Camptodactyly-tall stature-scoliosis-hearing loss syndromeEnrichmentFGFR31.95
199Rare combined vascular malformationEnrichmentPIK3CA1.95
200GangliogliomaEnrichmentBRAF1.95
201Cavernous lymphangiomaEnrichmentPIK3CA1.95
202Pik3ca-related overgrowth syndromeEnrichmentPIK3CA1.95
203Nongerminomatous germ cell tumorEnrichmentBRAF1.95
204Phace syndromeEnrichmentBRAF1.95
205Oculocerebrodental syndromeEnrichmentPIK3C2A1.95
206Gardner syndromeEnrichmentAPC1.95
2075q22 microdeletion syndromeEnrichmentAPC1.95
208Attenuated familial adenomatous polyposisEnrichmentAPC1.95
209Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC11.95
210Classic hairy cell leukemiaEnrichmentBRAF1.95
211Hartsfield-bixler-demyer syndromeEnrichmentFGFR11.95
212Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA1.95
213Eccrine angiomatous hamartomaEnrichmentPIK3CA1.95
214Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndromeEnrichmentRAC21.95
215Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF1.95
216Non-syndromic unicoronal craniosynostosisEnrichmentFGFR21.95
217Interstitial lung disease specific to childhoodEnrichmentFGF101.95
218Macrodactyly of toeEnrichmentPIK3CA1.95
219Neurocutaneous melanocytosisEnrichmentNRAS1.95
220Temporomandibular joint anomalyEnrichmentDOCK11.95
221HydrocephalusEnrichmentFGFR2, PDGFRB1.93
222Lynch syndromeEnrichmentKRAS, PIK3CA1.93
223MicrocephalyEnrichmentACTB, ACTG1, DIAPH1, MAPK1, PAK31.92
224Hereditary breast carcinomaEnrichmentAPC, KRAS, PIK3CA1.89
225Microform holoprosencephalyEnrichmentFGF8, FGFR11.87
226Lobar holoprosencephalyEnrichmentFGF8, FGFR11.87
227Dandy-walker syndromeEnrichmentBRAF, PDGFRB1.82
228Semilobar holoprosencephalyEnrichmentFGF8, FGFR11.78
229HypertelorismEnrichmentFGFR2, MYH10, PIK3CA1.70
230CraniosynostosisEnrichmentFGFR2, FGFR31.69
231Myeloproliferative disorder, chronic, with eosinophiliaEnrichmentPDGFRB1.65
232Fibromatosis, gingival, 1EnrichmentSOS11.65
233Otodental dysplasiaEnrichmentFGF31.65
234Spondyloepimetaphyseal dysplasia, strudwick typeEnrichmentFN11.65
235Spondylometaphyseal dysplasia, corner fracture typeEnrichmentFN11.65
236TrichomegalyEnrichmentFGF51.65
237Neutropenia, severe congenital, x-linkedEnrichmentWAS1.65
238Pulmonary hypoplasia, primaryEnrichmentFGF101.65
239Dermatofibrosarcoma protuberansEnrichmentPDGFB1.65
240Cervical cancerEnrichmentFGFR31.65
241Wiskott-aldrich syndromeEnrichmentWAS1.65
242Lethal congenital contracture syndrome 3EnrichmentPIP5K1C1.65
243Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R51.65
244Aural atresia, congenitalEnrichmentFGFR21.65
245Deafness, autosomal dominant 20EnrichmentACTG11.65
246Deafness, congenital, with inner ear agenesis, microtia, and microdontiaEnrichmentFGF31.65
247Neutrophilia, hereditaryEnrichmentPIP4K2B1.65
248Roifman-chitayat syndromeEnrichmentPIK3CD1.65
249Baraitser-winter syndrome 2EnrichmentACTG11.65
250Noonan syndrome 8EnrichmentPIK3CA1.65
251Spermatogenic failure 17EnrichmentPIK3C2G1.65
252Neutropenia, severe congenital, 7, autosomal recessiveEnrichmentPIP4K2B1.65
253Antley-bixler syndrome without genital anomalies or disordered steroidogenesisEnrichmentFGFR21.65
254Genitourinary and/or brain malformation syndromeEnrichmentPPP1R12A1.65
255Immunodeficiency 72 with autoinflammation and lymphoproliferationEnrichmentNCKAP11.65
256Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.65
257Noonan syndrome 12EnrichmentRRAS21.65
258Infantile myofibromatosisEnrichmentPDGFRB1.65
259Split hand-foot malformationEnrichmentFGFR21.65
260Severe congenital neutropenia 7EnrichmentPIP4K2B1.65
261Intellectual developmental disorder, autosomal dominant 60, with seizuresEnrichmentPIP5K1A1.65
262Immunodeficiency 113 with autoimmunity and autoinflammationEnrichmentARPC51.65
263Periampullary adenomaEnrichmentAPC1.65
264Gastric adenocarcinoma and proximal polyposis of the stomachEnrichmentAPC1.65
265Cervix carcinomaEnrichmentFGFR31.65
266B-lymphoblastic leukemia/lymphoma with hyperdiploidyEnrichmentPIP4K2A1.65
267Aarskog syndromeEnrichmentFGD11.65
268Interfrontal craniofaciosynostosisEnrichmentFGFR11.65
269Autosomal dominant nonsyndromic deafnessEnrichmentFGFR21.65
270Chronic eosinophilic leukemiaEnrichmentPDGFRA1.65
271Immunodeficiency 133EnrichmentARPC51.65
272B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormalityEnrichmentPDGFRA1.65
273Immunodeficiency 72EnrichmentNCKAP11.65
274Tafro syndromeEnrichmentMAP2K21.65
275Oculootodental syndromeEnrichmentFGF31.65
276Endometrial cancerEnrichmentFGFR2, PIK3CA1.65
277HepatoblastomaEnrichmentAPC, FGFR31.65
278Undetermined early-onset epileptic encephalopathyEnrichmentCYFIP2, FGF12, LIMK11.61
279Hepatocellular carcinomaEnrichmentAPC, PIK3CA1.61
280Desmoid disease, hereditaryEnrichmentAPC1.48
281Prune belly syndromeEnrichmentCHRM31.48
282AchondroplasiaEnrichmentFGFR31.48
283Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR11.48
284Larsen syndromeEnrichmentFGFR31.48
285Ataxia-telangiectasiaEnrichmentBRAF1.48
286Tumoral calcinosis, hyperphosphatemic, familial, 1EnrichmentFGF231.48
287Hypophosphatemic rickets, autosomal dominantEnrichmentFGF231.48
288Pompe disease, infantile-onsetEnrichmentPIK3CA1.48
289Aarskog-scott syndromeEnrichmentFGD11.48
290Intellectual developmental disorder, x-linked, syndromic, claes-jensen typeEnrichmentFGD11.48
291Glomerulopathy with fibronectin deposits 2EnrichmentFN11.48
292Nuchal bleb, familialEnrichmentSOS11.48
293Aortic aneurysm, familial thoracic 7EnrichmentMYLK1.48
294Chromosome 8p11 myeloproliferative syndromeEnrichmentFGFR11.48
295Cenani-lenz syndactyly syndromeEnrichmentAPC1.48
296Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.48
297Developmental and epileptic encephalopathy 65EnrichmentCYFIP21.48
298Tethered spinal cord syndromeEnrichmentBRAF1.48
299Large congenital melanocytic nevusEnrichmentNRAS1.48
300Desmoid tumorEnrichmentAPC1.48
301HamartomaEnrichmentFGFR31.48
302Testicular germ cell cancerEnrichmentFGFR31.48
303SpermatocytomaEnrichmentFGFR31.48
304Colon adenocarcinomaEnrichmentAPC1.48
305Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.48
306Syndromic x-linked intellectual disability claes-jensen typeEnrichmentFGD11.48
307Testicular cancerEnrichmentFGFR31.48
308KeratoacanthomaEnrichmentPIK3CA1.48
309Cerebral sinovenous thrombosisEnrichmentF21.48
310Apc-associated polyposis conditionsEnrichmentAPC1.48
311Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS1.36
312Megacystis-microcolon-intestinal hypoperistalsis syndrome 1EnrichmentMYLK1.36
313Thyroid cancer, nonmedullary, 1EnrichmentBRAF1.36
314Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.36
315Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.36
316Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentPIK3R21.36
317Aminoacylase 1 deficiencyEnrichmentACTB1.36
318Multiple synostoses syndromeEnrichmentFGF91.36
319Lung sarcomatoid carcinomaEnrichmentKRAS1.36
320Cerebrovascular diseaseEnrichmentPIK3CA1.36
321Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCDC421.36
322Pilocytic astrocytomaEnrichmentKRAS1.36
323Newborn respiratory distress syndromeEnrichmentBRAF1.36
324Familial cerebral cavernous malformationsEnrichmentPIK3CA1.36
325Knobloch syndromeEnrichmentPAK21.36
326Non-syndromic bicoronal craniosynostosisEnrichmentFGFR31.36
327GliomaEnrichmentFGFR21.36
328Gingival fibromatosisEnrichmentSOS11.36
329Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS21.36
330Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.36
331Complex neurodevelopmental disorderEnrichmentMYH10, PAK3, RAC3, WASF11.30
332Breast cancerEnrichmentAPC, KRAS, PIK3CA1.29
333Familial hypertrophic cardiomyopathyEnrichmentMYL3, RAF11.28
334Capillary malformations, congenitalEnrichmentPIK3CA1.26
335Sotos syndromeEnrichmentAPC21.26
336Visceral myopathy 1EnrichmentMYLK1.26
337Martsolf syndrome 1EnrichmentARHGAP351.26
338Knobloch syndrome 1EnrichmentPAK21.26
339Mosaic variegated aneuploidy syndrome 1EnrichmentPAK61.26
340Familial adenomatous polyposis 1EnrichmentAPC1.26
341Congenital ptosisEnrichmentMYH101.26
342HemimegalencephalyEnrichmentPIK3CA1.26
343Coloboma of choroid and retinaEnrichmentACTG11.26
344Rare genetic deafnessEnrichmentACTG1, DIAPH1, RDX1.24
345Dilated cardiomyopathyEnrichmentBRAF, RAF1, VCL1.22
346Non-syndromic genetic deafnessEnrichmentACTG1, RDX1.22
347Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.19
348Split-hand/foot malformation 1EnrichmentFGFR21.19
349Moyamoya disease 1EnrichmentDIAPH11.19
350Testicular germ cell tumorEnrichmentFGFR31.19
351Wilms tumor 5EnrichmentBRAF1.19
352Pendred syndromeEnrichmentDIAPH11.19
353Anterior segment dysgenesis 5EnrichmentARHGAP351.19
35446,xy disorder of sex developmentEnrichmentFGFR31.19
355Typical nemaline myopathyEnrichmentCFL21.19
356Cerebral palsyEnrichmentF2, PDGFRB1.16
357Leukemia, acute myeloidEnrichmentKRAS, NRAS1.14
358Thrombophilia due to thrombin defectEnrichmentF21.12
359Squamous cell carcinoma, head and neckEnrichmentEGFR1.12
360Gastrointestinal stromal tumorEnrichmentPDGFRA1.12
361Overgrowth syndromeEnrichmentPIK3R11.12
362Hypophosphatemic ricketsEnrichmentFGF231.12
363Nonsyndromic hearing lossEnrichmentACTG1, RDX1.10
364Lymphoma, non-hodgkin, familialEnrichmentBRAF1.07
365Mosaic variegated aneuploidy syndromeEnrichmentPAK61.07
366Orofacial cleft 1EnrichmentFGF101.02
367Cardiomyopathy, familial hypertrophic, 4EnrichmentBRAF1.02
368Tracheoesophageal fistula with or without esophageal atresiaEnrichmentAPC21.02
369Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC11.02
370Hypogonadotropic hypogonadismEnrichmentFGFR11.02
371Primary hyperaldosteronismEnrichmentBRAF1.02
372Ventricular septal defectEnrichmentBRAF1.02
373Colonic benign neoplasmEnrichmentAPC1.02
374Cowden syndromeEnrichmentPIK3CA1.02
375Familial thoracic aortic aneurysm and dissectionEnrichmentMYLK1.02
376Renal agenesis, bilateralEnrichmentFGF201.02
377ThrombocytopeniaEnrichmentACTN1, WAS1.00
378Cat eye syndromeEnrichmentACTG10.97
379Meier-gorlin syndrome 1EnrichmentFGFR20.97
380Peters-plus syndromeEnrichmentARHGAP350.97
381Stroke, ischemicEnrichmentF20.97
382MelanomaEnrichmentBRAF0.97
383Autosomal dominant macrothrombocytopeniaEnrichmentACTN10.97
384Isolated tracheo-esophageal fistulaEnrichmentAPC20.97
385Primary bone dysplasiaEnrichmentFGFR30.97
386Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG1, DIAPH30.94
387Meningioma, familialEnrichmentPDGFB0.94
388OsteochondrodysplasiaEnrichmentFGFR30.94
389Specific learning disabilityEnrichmentMAPK10.94
390Familial isolated dilated cardiomyopathyEnrichmentRAF1, VCL0.93
391Hereditary breast ovarian cancer syndromeEnrichmentBCAR1, KRAS0.90
392Septooptic dysplasiaEnrichmentFGFR10.90
393Renal hypodysplasia/aplasia 3EnrichmentFGFR30.90
394Aortic valve disease 1EnrichmentSOS10.87
395Microphthalmia/coloboma 12EnrichmentMYH100.87
396Protein-deficiency anemiaEnrichmentNRAS0.87
397Nk-cell enteropathyEnrichmentPIK3CB0.87
398Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentFGFR10.84
399MedulloblastomaEnrichmentAPC0.84
400Aortic aneurysm, familial thoracic 1EnrichmentMYLK0.84
401Generalized epilepsy with febrile seizures plusEnrichmentFGF130.84
402Cleft lip/palateEnrichmentPDGFRA0.84
40346,xy partial gonadal dysgenesisEnrichmentSOS10.84
404Coloboma of maculaEnrichmentMYH100.81
405Wilms tumor 1EnrichmentBRAF0.81
406Septopreoptic holoprosencephalyEnrichmentFGF80.81
407Midline interhemispheric variant of holoprosencephalyEnrichmentFGF80.81
408Melanoma, cutaneous malignant 1EnrichmentBRAF0.76
409Alobar holoprosencephalyEnrichmentFGF80.76
410Inherited cancer-predisposing syndromeEnrichmentAPC, EGFR, PDGFRA0.74
411Heart, malformation ofEnrichmentMAPK10.74
412Diffuse large b-cell lymphomaEnrichmentBRAF0.72
413Esophageal atresia/tracheoesophageal fistulaEnrichmentAPC20.72
414Williams-beuren syndromeEnrichmentLIMK10.70
415LissencephalyEnrichmentACTG10.68
416Centronuclear myopathyEnrichmentCFL20.68
417Tooth agenesisEnrichmentFGFR10.66
418Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF10.63
419Pancreatic cancerEnrichmentKRAS0.61
420Auditory neuropathyEnrichmentDIAPH10.60
421Prostate cancerEnrichmentPIK3CA0.56
422Non-immune hydrops fetalisEnrichmentKRAS0.53
423Connective tissue diseaseEnrichmentFGFR30.52
424CakutEnrichmentACTG10.50
425Left ventricular noncompactionEnrichmentRAF10.49
426Non-syndromic x-linked intellectual disabilityEnrichmentARHGEF60.48
427EpilepsyEnrichmentDIAPH10.44
428Nephrotic syndromeEnrichmentFN10.42
429Hypertrophic cardiomyopathyEnrichmentMYL30.42
430Familial thoracic aortic aneurysm and aortic dissectionEnrichmentMYLK0.41
431Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentFGF80.33
432Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentPFN10.32
433Autosomal recessive non-syndromic intellectual disabilityEnrichmentEZR0.32
434Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentRDX0.20
435Congenital nervous system abnormalityEnrichmentFGFR30.16
436Nervous system diseaseEnrichmentFGFR30.16
437Autism spectrum disorderEnrichmentMAP2K10.15

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