MET promotes cell motility

Pathway network for the MET promotes cell motility SuperPath

Sources:
  • Reactome
  • PubChem

Pathways in the MET promotes cell motility SuperPath

#NameSourceGenes
1MET promotes cell motilityReactome
2Signaling by METReactome
3Beta1 integrin cell surface interactionsPubChem
4MET activates PTK2 signalingReactome
5MET activates RAP1 and RAC1Reactome
6MET activates RAS signalingReactome
7MET receptor recyclingReactome
8MET Receptor ActivationReactome
9MET interacts with TNS proteinsReactome

Gene overlap in member pathways for MET promotes cell motility SuperPath

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

Disorders associated with MET promotes cell motility SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Ehlers-danlos syndromeEnrichmentCOL1A1, COL1A2, COL3A1, COL5A1, COL5A2, THBS29.80
2Noonan syndrome and noonan-related syndromeEnrichmentCBL, HRAS, KRAS, NRAS, PTPN11, SOS19.79
3Ehlers-danlos syndrome, classic type, 1EnrichmentCOL1A1, COL1A2, COL5A1, COL5A29.50
4Classic ehlers-danlos syndromeEnrichmentCOL1A1, COL1A2, COL5A1, COL5A29.50
5Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS8.80
6Noonan syndrome 1EnrichmentHRAS, KRAS, NRAS, SOS18.68
7RasopathyEnrichmentHRAS, KRAS, NRAS, SOS18.46
8Nevus, epidermalEnrichmentHRAS, KRAS, NRAS7.86
9Noonan syndrome 3EnrichmentHRAS, KRAS, SOS17.86
10Junctional epidermolysis bullosaEnrichmentITGA6, LAMA3, LAMB3, LAMC27.34
11Lung non-small cell carcinomaEnrichmentHRAS, KRAS, NRAS7.19
12Dysfibrinogenemia, congenitalEnrichmentFGA, FGB, FGG7.06
13Familial dysfibrinogenemiaEnrichmentFGA, FGB, FGG7.06
14Collagen vi-related dystrophiesEnrichmentCOL6A1, COL6A2, COL6A37.06
15Familial hypofibrinogenemiaEnrichmentFGA, FGB, FGG7.06
16Intermediate collagen vi-related muscular dystrophyEnrichmentCOL6A1, COL6A2, COL6A37.06
17Epidermolysis bullosa, junctional 1a, intermediateEnrichmentLAMA3, LAMB3, LAMC26.71
18Epidermolysis bullosa, junctional 1b, severeEnrichmentLAMA3, LAMB3, LAMC26.71
19Junctional epidermolysis bullosa non-herlitz typeEnrichmentLAMA3, LAMB3, LAMC26.71
20Afibrinogenemia, congenitalEnrichmentFGA, FGB, FGG6.46
21Bethlem muscular dystrophyEnrichmentCOL6A1, COL6A2, COL6A36.46
22Juvenile myelomonocytic leukemiaEnrichmentCBL, KRAS, NRAS, PTPN116.29
23Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS6.22
24Ullrich congenital muscular dystrophy 1aEnrichmentCOL6A1, COL6A2, COL6A36.07
25Epidermolysis bullosaEnrichmentCOL7A1, ITGA6, LAMB36.07
26Differentiated thyroid carcinomaEnrichmentHRAS, KRAS, NRAS5.84
27Familial thoracic aortic aneurysm and aortic dissectionEnrichmentCOL1A1, COL3A1, COL5A1, COL5A2, FBN15.83
28Large congenital melanocytic nevusEnrichmentHRAS, NRAS5.75
29Nephrotic syndromeEnrichmentFN1, ITGA3, LAMA5, LAMB25.65
30Bethlem myopathy 1aEnrichmentCOL6A1, COL6A2, COL6A35.52
31OsteoporosisEnrichmentCOL1A1, COL1A2, SRC5.46
32Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS5.45
33Spondyloepimetaphyseal dysplasia, strudwick typeEnrichmentCOL2A1, FN15.33
34Spondylometaphyseal dysplasia, corner fracture typeEnrichmentCOL2A1, FN15.33
35Otospondylomegaepiphyseal dysplasia, autosomal recessiveEnrichmentCOL11A2, COL2A15.33
36Otospondylomegaepiphyseal dysplasia, autosomal dominantEnrichmentCOL11A2, COL2A15.33
37Ehlers-danlos syndrome, arthrochalasia type, 2EnrichmentCOL1A1, COL1A25.33
38FibrochondrogenesisEnrichmentCOL11A1, COL11A25.33
39Stickler syndrome, type iiEnrichmentCOL11A1, COL1A15.33
40Ehlers-danlos/osteogenesis imperfecta syndromeEnrichmentCOL1A1, COL1A25.33
41Colorectal cancerEnrichmentMET, NRAS, PIK3CA, PIK3R1, PTPRJ, SRC4.95
42Connective tissue diseaseEnrichmentCOL11A1, COL2A1, COL5A1, FBN14.92
43Thyroid cancer, nonmedullary, 2EnrichmentHRAS, NRAS4.90
44Leukemia, chronic myeloidEnrichmentKRAS, NRAS4.90
45Follicular thyroid carcinomaEnrichmentHRAS, NRAS4.90
46TelecanthusEnrichmentCOL11A1, COL5A24.85
47Ehlers-danlos syndrome, classic type, 2EnrichmentCOL5A1, COL5A24.85
48High bone mass osteogenesis imperfectaEnrichmentCOL1A1, COL1A24.85
49Melanocytic nevus syndrome, congenitalEnrichmentHRAS, NRAS4.78
50Aortic dissectionEnrichmentCOL3A1, FBN14.70
51Ehlers-danlos syndrome, arthrochalasia type, 1EnrichmentCOL1A1, COL1A24.55
52Osteogenesis imperfecta with normal sclerae, dominant formEnrichmentCOL1A1, COL1A24.55
53MyopathyEnrichmentCOL6A1, COL6A2, COL6A3, FBN14.52
54MyopiaEnrichmentCOL11A1, COL2A1, FBN14.42
55Mccune-albright syndromeEnrichmentCOL2A1, FBN14.23
56Osteogenesis imperfecta, type iEnrichmentCOL1A1, COL1A24.15
57KeratoconusEnrichmentCOL1A1, COL5A24.15
58Osteogenesis imperfecta, type iiEnrichmentCOL1A1, COL1A24.01
59Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R14.00
60Skin diseaseEnrichmentCOL7A1, LAMB3, LAMC23.90
61Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCBL, PTPN113.70
62Stickler syndromeEnrichmentCOL11A1, COL2A13.68
63Primary bone dysplasiaEnrichmentCOL1A1, COL1A23.68
64Bladder cancerEnrichmentHRAS, KRAS3.62
65OsteochondrodysplasiaEnrichmentCOL1A1, COL1A23.59
66Non-immune hydrops fetalisEnrichmentHRAS, KRAS3.56
67Lung cancerEnrichmentKRAS, MET3.53
68Inguinal herniaEnrichmentCOL5A1, FBN13.53
69Osteogenesis imperfecta, type ivEnrichmentCOL1A1, COL1A23.44
70Deafness, autosomal recessive 39EnrichmentHGF3.43
71Osteofibrous dysplasiaEnrichmentMET3.43
72Deafness, autosomal recessive 97EnrichmentMET3.43
73Autism 9EnrichmentMET3.43
74Arthrogryposis, distal, type 11EnrichmentMET3.43
75Thrombophilia due to thrombin defectEnrichmentF13A1, FGA3.39
76Intervertebral disc diseaseEnrichmentCOL11A1, THBS23.39
77Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentHGF, MET3.38
78Multiple sclerosisEnrichmentLAMA5, LAMB13.37
79Syndromic congenital sodium diarrheaEnrichmentSPINT23.35
80Leukemia, acute myeloidEnrichmentKRAS, NRAS3.34
81Osteogenesis imperfecta, type iiiEnrichmentCOL1A1, COL1A23.31
82Breast adenocarcinomaEnrichmentKRAS, PIK3CA3.31
83Lung squamous cell carcinomaEnrichmentKRAS, PIK3CA3.31
84Spastic paraplegia 4, autosomal dominantEnrichmentCOL3A1, FGG3.26
85Orthostatic intoleranceEnrichmentCOL5A1, FBN13.26
86Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, PIK3CA3.16
87Gallbladder cancerEnrichmentKRAS, PIK3CA3.16
88Familial thoracic aortic aneurysm and dissectionEnrichmentCOL3A1, FBN13.15
89Renal agenesis, bilateralEnrichmentITGA8, NPNT3.15
90Heart, malformation ofEnrichmentCOL11A2, COL2A13.15
91Childhood hepatocellular carcinomaEnrichmentMET3.13
92Papillary renal cell carcinomaEnrichmentMET3.13
93Deafness, autosomal recessive 26EnrichmentGAB13.13
94Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic faciesEnrichmentRAP1B3.09
95Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC13.09
96Oculoectodermal syndromeEnrichmentKRAS3.09
97Noonan syndrome 4EnrichmentSOS13.09
98Melanosis, neurocutaneousEnrichmentNRAS3.09
99Noonan syndrome 6EnrichmentNRAS3.09
100Cardiofaciocutaneous syndrome 2EnrichmentKRAS3.09
101Congenital pulmonary airway malformationEnrichmentKRAS3.09
102Phakomatosis pigmentokeratoticaEnrichmentHRAS3.09
103Neurocutaneous melanocytosisEnrichmentNRAS3.09
104Marfan syndromeEnrichmentCOL2A1, FBN13.06
105Renal cell carcinomaEnrichmentMET2.96
106Brittle bone disorderEnrichmentCOL1A1, COL1A22.93
107Arteriovenous malformationEnrichmentHRAS, PIK3CA2.93
108Diarrhea 3, secretory sodium, congenital, with or without other congenital anomaliesEnrichmentSPINT22.88
109Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, PIK3CA2.84
110Nephrotic syndrome, type 17EnrichmentGGA32.83
111Breast cancerEnrichmentKRAS, SHC12.79
112Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC12.79
113Hypobetalipoproteinemia, familial, 2EnrichmentDOCK72.79
114Developmental and epileptic encephalopathy 23EnrichmentDOCK72.79
115Fibromatosis, gingival, 1EnrichmentSOS12.79
116Costello syndromeEnrichmentHRAS2.79
117Pulmonic stenosisEnrichmentSOS12.79
118Encephalocraniocutaneous lipomatosisEnrichmentKRAS2.79
119Wooly hair nevusEnrichmentHRAS2.79
120Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentCOL11A1, COL11A2, TNC2.79
121Aortic aneurysm, familial thoracic 1EnrichmentCOL3A1, FBN12.76
122CataractEnrichmentCOL18A1, COL5A12.76
123Lip and oral cavity carcinomaEnrichmentHRAS, PIK3CA2.67
124Stickler syndrome, type iEnrichmentCOL2A12.66
125Epiphyseal dysplasia, multiple, with myopia and conductive deafnessEnrichmentCOL2A12.66
126Ehlers-danlos syndrome, cardiac valvular typeEnrichmentCOL1A22.66
127Spondylometaphyseal dysplasia, algerian typeEnrichmentCOL2A12.66
128Deafness, autosomal recessive 53EnrichmentCOL11A22.66
129Osteoarthritis with mild chondrodysplasiaEnrichmentCOL2A12.66
130Avascular necrosis of femoral head, primary, 1EnrichmentCOL2A12.66
131Czech dysplasiaEnrichmentCOL2A12.66
132Marshall syndromeEnrichmentCOL11A12.66
133Kniest dysplasiaEnrichmentCOL2A12.66
134Cardiomyopathy, dilated, 1jjEnrichmentLAMA42.66
135Platyspondylic lethal skeletal dysplasia, torrance typeEnrichmentCOL2A12.66
136Fibrochondrogenesis 1EnrichmentCOL11A12.66
137Spondyloepiphyseal dysplasia, stanescu typeEnrichmentCOL2A12.66
138Lissencephaly 5EnrichmentLAMB12.66
139Acrogeria, gottron typeEnrichmentCOL3A12.66
140Achondrogenesis, type iiEnrichmentCOL2A12.66
141Nephrotic syndrome, type 26EnrichmentLAMA52.66
142Combined osteogenesis imperfecta and ehlers-danlos syndrome 2EnrichmentCOL1A22.66
143Spondyloperipheral dysplasiaEnrichmentCOL2A12.66
144Deafness, autosomal dominant 37EnrichmentCOL11A12.66
145Deafness, autosomal dominant 13EnrichmentCOL11A22.66
146Stickler syndrome, type i, nonsyndromic ocularEnrichmentCOL2A12.66
147Cortical malformations, occipitalEnrichmentLAMC32.66
148Fibrochondrogenesis 2EnrichmentCOL11A22.66
149Thrombocytopenia 6EnrichmentSRC2.66
150Bent bone dysplasia syndrome 2EnrichmentLAMA52.66
151Vitreoretinopathy with phalangeal epiphyseal dysplasiaEnrichmentCOL2A12.66
152Asphyxia neonatorumEnrichmentCOL1A12.66
153Occipital pachygyria and polymicrogyriaEnrichmentLAMC32.66
154Autosomal dominant rhegmatogenous retinal detachmentEnrichmentCOL2A12.66
155Fetomaternal alloimmune thrombocytopenia 3EnrichmentITGA22.66
156Multiple epiphyseal dysplasia with myopia and deafnessEnrichmentCOL2A12.66
157HypochondrogenesisEnrichmentCOL2A12.66
158PneumothoraxEnrichmentCOL5A12.66
159Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndromeEnrichmentCOL11A12.66
160DysspondyloenchondromatosisEnrichmentCOL2A12.66
161Cystic lymphangiomaEnrichmentCOL11A22.66
162Abdominal aortic aneurysmEnrichmentCOL3A12.66
163Type 2 collagen-related bone disorderEnrichmentCOL2A12.66
164Lama5-related multisystemic syndromeEnrichmentLAMA52.66
165Laminin subunit alpha 2-related muscular dystrophyEnrichmentLAMA22.66
166Nuchal bleb, familialEnrichmentSOS12.61
167Langerhans cell histiocytosisEnrichmentNRAS2.61
168SpermatocytomaEnrichmentHRAS2.61
169Renal cell carcinoma, papillary, 1EnrichmentMET2.59
170Ovarian cancerEnrichmentKRAS, MET2.54
171Beckwith-wiedemann syndromeEnrichmentCOL6A1, COL7A12.54
172Arthrogryposis, distal, type 1aEnrichmentMET2.53
173Chromosome 22q11.2 deletion syndrome, distalEnrichmentCRKL2.53
174Fetal akinesia deformation sequence 3EnrichmentDOCK72.49
175Cardiofaciocutaneous syndrome 1EnrichmentKRAS2.49
176Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS2.49
177Cardiofaciocutaneous syndromeEnrichmentKRAS2.49
178Lung sarcomatoid carcinomaEnrichmentKRAS2.49
179Pilocytic astrocytomaEnrichmentKRAS2.49
180Epidermolytic nevusEnrichmentHRAS2.49
181Gingival fibromatosisEnrichmentSOS12.49
182Lynch syndromeEnrichmentKRAS, PIK3CA2.48
183HypertelorismEnrichmentCOL11A1, COL1A1, PIK3CA2.47
184RhabdomyosarcomaEnrichmentCBL, HRAS2.42
185Ehlers-danlos syndrome, vascular typeEnrichmentCOL3A12.35
186Epiphyseal dysplasia, multiple, 1EnrichmentCOL1A12.35
187Amelogenesis imperfecta, type iaEnrichmentLAMB32.35
188Ehlers-danlos syndrome, hypermobility typeEnrichmentCOL3A12.35
189Epidermolysis bullosa, junctional 2c, laryngoonychocutaneousEnrichmentLAMA32.35
190Bruck syndrome 1EnrichmentCOL1A22.35
191Myasthenic syndrome, congenital, 5EnrichmentLAMB22.35
192Dermatofibrosarcoma protuberansEnrichmentCOL1A12.35
193Legg-calve-perthes diseaseEnrichmentCOL2A12.35
194Lissencephaly 1EnrichmentLAMB12.35
195Pierson syndromeEnrichmentLAMB22.35
196Combined osteogenesis imperfecta and ehlers-danlos syndrome 1EnrichmentCOL1A12.35
197Epidermolysis bullosa, junctional 3b, severeEnrichmentLAMC22.35
198Epidermolysis bullosa, junctional 3a, intermediateEnrichmentLAMC22.35
199Fibromuscular dysplasia, multifocalEnrichmentCOL5A12.35
200Epidermolysis bullosa, junctional 2a, intermediateEnrichmentLAMA32.35
201Polymicrogyria with or without vascular-type ehlers-danlos syndromeEnrichmentCOL3A12.35
202Nephrotic syndrome, type 5, with or without ocular abnormalitiesEnrichmentLAMB22.35
203Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndromeEnrichmentITGA32.35
204Steel syndromeEnrichmentCOL27A12.35
205Familial avascular necrosis of the femoral headEnrichmentCOL2A12.35
206Epidermolysis bullosa, junctional 2b, severeEnrichmentLAMA32.35
207Dentinogenesis imperfectaEnrichmentCOL1A22.35
208Corneal dystrophy, epithelial basement membraneEnrichmentTGFBI2.35
209Corneal dystrophy, groenouw type iEnrichmentTGFBI2.35
210Ectopia lentis 1, isolated, autosomal dominantEnrichmentFBN12.35
211Epidermolysis bullosa dystrophica, pretibialEnrichmentCOL7A12.35
212Epidermolysis bullosa dystrophica, autosomal dominantEnrichmentCOL7A12.35
213Epidermolysis bullosa dystrophica, autosomal recessiveEnrichmentCOL7A12.35
214Corneal dystrophy, avellino typeEnrichmentTGFBI2.35
215Nail disorder, nonsyndromic congenital, 8EnrichmentCOL7A12.35
216Transient bullous dermolysis of the newbornEnrichmentCOL7A12.35
217Corneal dystrophy, lattice type iEnrichmentTGFBI2.35
218Epidermolysis bullosa with congenital localized absence of skin and deformity of nailsEnrichmentCOL7A12.35
219Weill-marchesani syndrome 2EnrichmentFBN12.35
220Immunodeficiency, common variable, 6EnrichmentCD812.35
221Deafness, autosomal dominant 56EnrichmentTNC2.35
222Geleophysic dysplasia 2EnrichmentFBN12.35
223Protrusio acetabuliEnrichmentFBN12.35
224Basal ganglia calcification, idiopathic, 8, autosomal recessiveEnrichmentJAM22.35
225Corneal dystrophy, thiel-behnke typeEnrichmentTGFBI2.35
226Ullrich congenital muscular dystrophy 1bEnrichmentCOL6A22.35
227Myosclerosis, autosomal recessiveEnrichmentCOL6A22.35
228Ullrich congenital muscular dystrophy 1cEnrichmentCOL6A32.35
229Lymphoplasmacytic lymphomaEnrichmentFBN12.35
230Epithelial-stromal tgfbi dystrophyEnrichmentTGFBI2.35
231Microvascular complications of diabetes 1EnrichmentVEGFA2.35
232Corneal dystrophy, lattice type iiiaEnrichmentTGFBI2.35
233Epidermolysis bullosa pruriginosaEnrichmentCOL7A12.35
234Corneal dystrophy, reis-bucklers typeEnrichmentTGFBI2.35
235Granular corneal dystrophyEnrichmentTGFBI2.35
236Dystonia 27EnrichmentCOL6A32.35
237Thyroid gland diseaseEnrichmentCOL7A12.35
238Factor xiii, a subunit, deficiency ofEnrichmentF13A12.35
239Qualitative or quantitative defects of collagen 6EnrichmentCOL6A22.35
240Recessive dystrophic epidermolysis bullosa-generalized otherEnrichmentCOL7A12.35
241Bethlem myopathy 1bEnrichmentCOL6A22.35
242Epithelial basement membrane dystrophyEnrichmentTGFBI2.35
243Congenital fibrinogen deficiencyEnrichmentFGG2.35
244Bethlem myopathy 1cEnrichmentCOL6A32.35
245Immune dysregulation, neurodevelopmental defects, and colitisEnrichmentITGAV2.35
246Localized dystrophic epidermolysis bullosa, acral formEnrichmentCOL7A12.35
247Neonatal marfan syndromeEnrichmentFBN12.35
248Recessive dystrophic epidermolysis bullosa inversaEnrichmentCOL7A12.35
249Generalized dominant dystrophic epidermolysis bullosaEnrichmentCOL7A12.35
250Neural tube defectsEnrichmentITGB12.32
251Sensorineural hearing lossEnrichmentCOL11A2, HGF2.30
252ScoliosisEnrichmentCOL2A1, FBN12.29
253Renal cell carcinoma, nonpapillaryEnrichmentMET2.26
254Pilomyxoid astrocytomaEnrichmentKRAS2.25
255MacrodactylyEnrichmentPIK3CA2.23
256MetachondromatosisEnrichmentPTPN112.23
257Immunodeficiency 61EnrichmentSH3KBP12.23
258Megalencephaly, autosomal dominantEnrichmentPIK3CA2.23
259Leopard syndrome 1EnrichmentPTPN112.23
260Cowden syndrome 5EnrichmentPIK3CA2.23
261Cerebral cavernous malformations 4EnrichmentPIK3CA2.23
262Short syndromeEnrichmentPIK3R12.23
263T-cell large granular lymphocyte leukemiaEnrichmentSTAT32.23
264Hemifacial myohyperplasiaEnrichmentPIK3CA2.23
265Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.23
266Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.23
267Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.23
268Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT32.23
269Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.23
270Autosomal recessive spastic paraplegia type 59EnrichmentUSP82.23
271HypospadiasEnrichmentPIK3CA2.23
272Thrombocytopenia 10EnrichmentPTPRJ2.23
273Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT32.23
274Rare venous malformationEnrichmentPIK3CA2.23
275Diaphragmatic eventrationEnrichmentPIK3CA2.23
276Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.23
277Rare combined vascular malformationEnrichmentPIK3CA2.23
278Cavernous lymphangiomaEnrichmentPIK3CA2.23
279Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.23
280Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.23
281Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT32.23
282Eccrine angiomatous hamartomaEnrichmentPIK3CA2.23
283Macrodactyly of toeEnrichmentPIK3CA2.23
284Malignant astrocytomaEnrichmentPTPN112.23
285Spondyloepiphyseal dysplasia congenitaEnrichmentCOL2A12.18
286MegalocorneaEnrichmentCOL11A12.18
287Hypophosphatasia, infantileEnrichmentCOL11A22.18
288Glomerulopathy with fibronectin deposits 2EnrichmentFN12.18
289Muscular dystrophy, congenital merosin-deficient, 1aEnrichmentLAMA22.18
290Caffey diseaseEnrichmentCOL1A12.18
291Poretti-boltshauser syndromeEnrichmentLAMA12.18
292Multiple epiphyseal dysplasiaEnrichmentCOL2A12.18
293Lama2-related muscular dystrophyEnrichmentLAMA22.18
294Hepatocellular carcinomaEnrichmentMET, PIK3CA2.14
295Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC12.14
296Stargardt disease 1EnrichmentCOL18A1, COL2A12.10
297PhenylketonuriaEnrichmentCOL1A12.05
298Acromicric dysplasiaEnrichmentFBN12.05
299Stiff skin syndromeEnrichmentFBN12.05
300Quebec platelet disorderEnrichmentPLAU2.05
301Beaulieu-boycott-innes syndromeEnrichmentFBN12.05
302Recessive dystrophic epidermolysis bullosaEnrichmentCOL7A12.05
303Marfanoid-progeroid-lipodystrophy syndromeEnrichmentFBN12.05
304Glaucoma, primary closed-angleEnrichmentCOL18A12.05
305Common variable immunodeficiency phenotype due to cd19/cd81 deficiencyEnrichmentCD812.05
306Epidermolysis bullosa dystrophicaEnrichmentCOL7A12.05
307Factor xiii deficiencyEnrichmentF13A12.05
308Lens subluxationEnrichmentFBN12.05
309Hereditary retinal dystrophyEnrichmentCOL11A2, COL18A1, COL2A1, ITGA4, LAMA12.01
310Fundus dystrophyEnrichmentCOL11A2, COL18A1, COL2A1, ITGA4, LAMA12.01
311Hydrops fetalis, nonimmuneEnrichmentHRAS, PTPN112.00
312Aortic valve disease 1EnrichmentSOS11.98
313Protein-deficiency anemiaEnrichmentNRAS1.98
314Retinal detachmentEnrichmentCOL2A11.96
315Muscular dystrophy, limb-girdle, autosomal recessive 23EnrichmentLAMA21.96
316Familial cerebral saccular aneurysmEnrichmentCOL3A11.96
317Lung cancer susceptibility 3EnrichmentKRAS1.95
31846,xy partial gonadal dysgenesisEnrichmentSOS11.95
319Pituitary adenoma 4, acth-secretingEnrichmentUSP81.94
320Ovarian germ cell cancerEnrichmentCBL1.94
321Keratosis, seborrheicEnrichmentPIK3CA1.94
322Noonan syndrome 8EnrichmentPIK3CA1.94
323Werner syndromeEnrichmentPTPN111.94
324Rosette-forming glioneuronal tumorEnrichmentPIK3CA1.94
325Malignant germ cell tumor of ovaryEnrichmentCBL1.94
326Submucosal cleft palateEnrichmentUBB1.94
327Cleft hard palateEnrichmentUBB1.94
328Developmental dysplasia of the hip 1EnrichmentCOL2A11.88
329Pain disorderEnrichmentCOL5A11.88
330Fetomaternal alloimmune thrombocytopenia 1EnrichmentITGA21.88
331Contractural arachnodactyly, congenitalEnrichmentFBN11.87
332AchondroplasiaEnrichmentFBN11.87
333Nail disorder, nonsyndromic congenital, 4EnrichmentCOL7A11.87
334Muscular dystrophy, congenital, due to integrin alpha-7 deficiencyEnrichmentITGA71.87
335Epidermolysis bullosa, junctional 6, with pyloric atresiaEnrichmentITGA61.87
336Ehlers-danlos syndrome, classic-like, 3EnrichmentTHBS21.87
337Weill-marchesani syndrome 1EnrichmentFBN11.87
338Isolated ectopia lentisEnrichmentFBN11.87
339Geleophysic dysplasiaEnrichmentFBN11.87
340Hyperpigmentation of the skinEnrichmentCOL7A11.87
341Isolated dandy-walker malformation without hydrocephalusEnrichmentNID11.87
342Arteriovenous malformations of the brainEnrichmentKRAS1.82
343MyelofibrosisEnrichmentSRC1.81
344Multiple enchondromatosis, maffucci typeEnrichmentCOL2A11.81
345Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentSTAT31.76
346Pompe disease, infantile-onsetEnrichmentPIK3CA1.76
347Uvula, bifidEnrichmentUBB1.76
348Cleft soft palateEnrichmentUBB1.76
349Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.76
350Breast implant-associated anaplastic large cell lymphomaEnrichmentSTAT31.76
351Hyper ige syndromeEnrichmentSTAT31.76
352Immunodeficiency 14EnrichmentPIK3R11.76
353Tricuspid valve insufficiencyEnrichmentPTPN111.76
354KeratoacanthomaEnrichmentPIK3CA1.76
355Gastroesophageal refluxEnrichmentCOL5A11.76
356Congenital muscular dystrophyEnrichmentLAMA21.76
357Retinitis pigmentosa 26EnrichmentITGA41.75
358Weill-marchesani syndromeEnrichmentFBN11.75
359Aortic aneurysmEnrichmentFBN11.75
360Corneal dystrophyEnrichmentTGFBI1.75
361Epidermolytic hyperkeratosisEnrichmentCOL7A11.75
362Knobloch syndromeEnrichmentCOL18A11.75
363Mitral valve insufficiencyEnrichmentFBN11.75
364Pediatric systemic lupus erythematosusEnrichmentSPP11.75
365Pancreatic cancerEnrichmentKRAS1.70
366Amelogenesis imperfecta, type ieEnrichmentLAMB31.66
367Polycystic liver disease 1 with or without kidney cystsEnrichmentFBN11.65
368Alzheimer disease 2EnrichmentPLAU1.65
369Epidermolytic hyperkeratosis 1EnrichmentCOL7A11.65
370Amyloidosis, hereditary systemic 2EnrichmentFGA1.65
371Arthrogryposis, renal dysfunction, and cholestasis 1EnrichmentFBN11.65
372Knobloch syndrome 1EnrichmentCOL18A11.65
373Goldberg-shprintzen syndromeEnrichmentFBN11.65
374Polycystic liver disease 1EnrichmentFBN11.65
375Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3CA1.64
376Cerebrovascular diseaseEnrichmentPIK3CA1.64
377Noonan syndrome with multiple lentiginesEnrichmentPTPN111.64
378Familial cerebral cavernous malformationsEnrichmentPIK3CA1.64
379Presynaptic congenital myasthenic syndromesEnrichmentLAMA51.62
380Gastric cancerEnrichmentKRAS, PIK3CA1.59
381Cutis laxaEnrichmentCOL5A11.58
382Epidermolysis bullosa, junctional 5b, with pyloric atresiaEnrichmentITGA61.57
383Hereditary breast carcinomaEnrichmentKRAS, PIK3CA1.57
384Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactylyEnrichmentCOL5A11.55
385ClubfootEnrichmentCOL5A11.55
386Amelogenesis imperfectaEnrichmentLAMB31.55
387Capillary malformations, congenitalEnrichmentPIK3CA1.54
388LymphomaEnrichmentPTPN111.54
389Myeloproliferative neoplasmEnrichmentCBL1.54
390HemimegalencephalyEnrichmentPIK3CA1.54
391Aggressive systemic mastocytosisEnrichmentCBL1.54
392Brugada syndrome 1EnrichmentFBN11.51
393Focal epilepsyEnrichmentNID11.51
394ThrombocytopeniaEnrichmentPTPN11, SRC1.50
395Kidney diseaseEnrichmentLAMB21.49
396Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.46
397Cowden syndrome 1EnrichmentPIK3CA1.46
398Hemihyperplasia, isolatedEnrichmentPIK3CA1.46
399Patent ductus arteriosusEnrichmentPTPN111.46
400Creatine phosphokinase, elevated serumEnrichmentLAMA21.46
401Isolated elevated serum creatine phosphokinase levelsEnrichmentLAMA21.46
402Basal ganglia calcification, idiopathic, 1EnrichmentJAM21.45
403Renal hypodysplasia/aplasia 1EnrichmentITGA81.45
404Cleft palate, isolatedEnrichmentCOL11A11.43
405Loeys-dietz syndromeEnrichmentFBN11.40
406Oligoarticular juvenile idiopathic arthritisEnrichmentPTPN21.40
407Overgrowth syndromeEnrichmentPIK3R11.40
408Rheumatoid factor-negative juvenile idiopathic arthritisEnrichmentPTPN21.40
409Hereditary breast ovarian cancer syndromeEnrichmentKRAS1.36
410Stroke, ischemicEnrichmentFBN11.36
411MelanomaEnrichmentFBN11.36
412Myeloma, multipleEnrichmentKRAS1.35
413Permanent neonatal diabetes mellitusEnrichmentSTAT31.34
414Inherited cancer-predisposing syndromeEnrichmentMET1.32
415Pectus excavatumEnrichmentFBN11.32
416IchthyosisEnrichmentCOL7A11.32
417Dilated cardiomyopathyEnrichmentFBN1, LAMA21.30
418Adult hepatocellular carcinomaEnrichmentPIK3CA1.29
419Primary hyperaldosteronismEnrichmentUSP81.29
420Cowden syndromeEnrichmentPIK3CA1.29
421Ear malformationEnrichmentCOL11A21.29
422Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R11.25
423Diaphragmatic hernia, congenitalEnrichmentFBN11.24
424Isolated macular dystrophyEnrichmentITGA41.21
425Specific learning disabilityEnrichmentPTPN111.21
426Congenital myopathy 4a, autosomal dominantEnrichmentITGA71.18
427HydrocephalusEnrichmentNID11.18
428EpicanthusEnrichmentPTPN111.17
429MeningiomaEnrichmentPIK3CA1.17
430Congenital long qt syndromeEnrichmentPTPN111.17
431Perrault syndrome 1EnrichmentFBN11.16
432Genetic steroid-resistant nephrotic syndromeEnrichmentLAMA51.14
433Acute promyelocytic leukemiaEnrichmentSTAT31.14
434Alzheimer disease, familial, 1EnrichmentPLAU1.13
435Charcot-marie-tooth diseaseEnrichmentLAMA21.06
436Nonsyndromic hearing lossEnrichmentCOL11A21.05
437HepatoblastomaEnrichmentCOL7A11.04
438Myocardial infarctionEnrichmentF13A11.02
439Patent foramen ovaleEnrichmentPTPN111.00
440Muscular dystrophyEnrichmentCOL6A20.99
441Diffuse large b-cell lymphomaEnrichmentSTAT30.98
442Familial isolated dilated cardiomyopathyEnrichmentLAMA40.95
443Endometrial cancerEnrichmentPIK3CA0.94
444Severe covid-19EnrichmentITGAV0.91
445StrabismusEnrichmentPTPN110.84
446AutismEnrichmentCOL11A10.83
447Prostate cancerEnrichmentPIK3CA0.81
448Long qt syndrome 1EnrichmentPTPN110.79
449Rare genetic deafnessEnrichmentCOL11A20.79
450Systemic lupus erythematosusEnrichmentSPP10.79
451Type 2 diabetes mellitusEnrichmentPTPN10.66
452Hypertrophic cardiomyopathyEnrichmentPTPN110.65
453Primary ovarian insufficiencyEnrichmentTHBS10.63
454Cone-rod dystrophy 2EnrichmentITGA40.58
455Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentPTPN110.55
456MicrocephalyEnrichmentCOL7A10.37
457Autism spectrum disorderEnrichmentPTPN110.33
458Retinitis pigmentosaEnrichmentCOL18A10.21

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