Biofilm formation

Pathway network for the Biofilm formation SuperPath

Sources:
  • Reactome
  • GeneGo (Thomson Reuters)
  • PubChem

Pathways in the Biofilm formation SuperPath

#NameSourceGenes
1Biofilm formationReactome
2Cell adhesion Endothelial cell contacts by non-junctional mechanismsGeneGo (Thomson Reuters)
3Laminin interactionsReactome
4Infection with EnterobacteriaReactome
5Attachment of bacteria to epithelial cellsReactome
6Fibronectin matrix formationReactome
7Alpha6 beta4 integrin-ligand interactionsPubChem

Gene overlap in member pathways for Biofilm formation SuperPath

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

Disorders associated with Biofilm formation SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Bacterial infectious diseaseDirect
2Junctional epidermolysis bullosaEnrichmentITGA6, ITGB4, LAMA3, LAMB3, LAMC210.68
3Epidermolysis bullosa, junctional 1a, intermediateEnrichmentITGB4, LAMA3, LAMB3, LAMC210.36
4Junctional epidermolysis bullosa non-herlitz typeEnrichmentITGB4, LAMA3, LAMB3, LAMC210.36
5Ehlers-danlos syndromeEnrichmentCOL1A1, COL1A2, COL3A1, COL5A1, COL5A210.17
6Ehlers-danlos syndrome, classic type, 1EnrichmentCOL1A1, COL1A2, COL5A1, COL5A210.05
7Classic ehlers-danlos syndromeEnrichmentCOL1A1, COL1A2, COL5A1, COL5A210.05
8Nephrotic syndromeEnrichmentCOL4A3, COL4A4, COL4A5, ITGA3, LAMA5, LAMB29.39
9Digenic alport syndromeEnrichmentCOL4A3, COL4A4, COL4A58.56
10Epidermolysis bullosa, junctional 1b, severeEnrichmentLAMA3, LAMB3, LAMC28.10
11Kidney diseaseEnrichmentCOL4A3, COL4A4, COL4A5, LAMB27.58
12Alport syndrome 3a, autosomal dominantEnrichmentCOL4A3, COL4A4, COL4A57.56
13Autosomal dominant alport syndromeEnrichmentCOL4A3, COL4A4, COL4A57.56
14Alport syndromeEnrichmentCOL4A3, COL4A4, COL4A57.56
15KeratoconusEnrichmentCOL1A1, COL4A1, COL5A27.26
16Epidermolysis bullosaEnrichmentCOL7A1, ITGA6, LAMB37.01
17Skin diseaseEnrichmentCOL7A1, ITGB4, LAMB3, LAMC26.86
18Multiple sclerosisEnrichmentITGB4, LAMA5, LAMB16.84
19Familial thoracic aortic aneurysm and aortic dissectionEnrichmentCOL1A1, COL3A1, COL5A1, COL5A26.35
20Spondyloepimetaphyseal dysplasia, strudwick typeEnrichmentCOL2A1, FN15.69
21Spondylometaphyseal dysplasia, corner fracture typeEnrichmentCOL2A1, FN15.69
22Ehlers-danlos syndrome, arthrochalasia type, 2EnrichmentCOL1A1, COL1A25.69
23Ehlers-danlos/osteogenesis imperfecta syndromeEnrichmentCOL1A1, COL1A25.69
24X-linked diffuse leiomyomatosis-alport syndromeEnrichmentCOL4A5, COL4A65.69
25Hematuria, benign familial, 1EnrichmentCOL4A3, COL4A45.21
26Ehlers-danlos syndrome, classic type, 2EnrichmentCOL5A1, COL5A25.21
27High bone mass osteogenesis imperfectaEnrichmentCOL1A1, COL1A25.21
28Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentCDH2, CTNNA3, JUP5.07
29Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG15.07
30Epidermolysis bullosa, junctional 5b, with pyloric atresiaEnrichmentITGA6, ITGB45.05
31Ehlers-danlos syndrome, arthrochalasia type, 1EnrichmentCOL1A1, COL1A24.91
32Brain small vessel disease 1 with or without ocular anomaliesEnrichmentCOL4A1, COL4A24.91
33Alport syndrome 2, autosomal recessiveEnrichmentCOL4A3, COL4A44.91
34Autosomal recessive alport syndromeEnrichmentCOL4A3, COL4A44.91
35Osteogenesis imperfecta with normal sclerae, dominant formEnrichmentCOL1A1, COL1A24.91
36Arrhythmogenic right ventricular cardiomyopathyEnrichmentACTN2, CTNNA3, JUP4.89
37Familial porencephalyEnrichmentCOL4A1, COL4A24.69
38Osteogenesis imperfecta, type iEnrichmentCOL1A1, COL1A24.51
39Hemorrhage, intracerebralEnrichmentCOL4A1, COL4A24.51
40Osteogenesis imperfecta, type iiEnrichmentCOL1A1, COL1A24.36
41Primary bone dysplasiaEnrichmentCOL1A1, COL1A24.03
42OsteochondrodysplasiaEnrichmentCOL1A1, COL1A23.95
43Fetomaternal alloimmune thrombocytopenia 1EnrichmentITGA2, ITGB33.90
44Osteogenesis imperfecta, type ivEnrichmentCOL1A1, COL1A23.80
45Chronic kidney diseaseEnrichmentCOL4A4, COL4A53.80
46OsteoporosisEnrichmentCOL1A1, COL1A23.73
47Osteogenesis imperfecta, type iiiEnrichmentCOL1A1, COL1A23.67
48MyopiaEnrichmentCOL2A1, COL4A43.67
49HypertensionEnrichmentCOL4A4, COL4A53.61
50Autosomal dominant macrothrombocytopeniaEnrichmentACTN1, ITGB33.42
51Focal segmental glomerulosclerosisEnrichmentCOL4A4, COL4A53.41
52MicrocephalyEnrichmentACTB, ACTG1, COL4A1, CTNNB13.34
53Brittle bone disorderEnrichmentCOL1A1, COL1A23.29
54Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentCTNNA3, JUP3.26
55Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentCTNNA3, JUP3.26
56Lissencephaly 5EnrichmentLAMB13.09
57Nephrotic syndrome, type 26EnrichmentLAMA53.09
58Bent bone dysplasia syndrome 2EnrichmentLAMA53.09
59Lama5-related multisystemic syndromeEnrichmentLAMA53.09
60Laminin subunit alpha 2-related muscular dystrophyEnrichmentLAMA23.09
61Corpus callosum, agenesis ofEnrichmentCDH2, COL4A13.06
62Isolated corpus callosum agenesisEnrichmentCDH2, COL4A13.06
63Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCDH2, COL4A13.06
64Connective tissue diseaseEnrichmentCOL2A1, COL5A13.00
65Stickler syndrome, type iEnrichmentCOL2A12.83
66Epidermolysis bullosa dystrophica, pretibialEnrichmentCOL7A12.83
67Epidermolysis bullosa dystrophica, autosomal dominantEnrichmentCOL7A12.83
68Epiphyseal dysplasia, multiple, with myopia and conductive deafnessEnrichmentCOL2A12.83
69Ehlers-danlos syndrome, cardiac valvular typeEnrichmentCOL1A22.83
70Epidermolysis bullosa dystrophica, autosomal recessiveEnrichmentCOL7A12.83
71Spondylometaphyseal dysplasia, algerian typeEnrichmentCOL2A12.83
72Alport syndrome 1, x-linkedEnrichmentCOL4A52.83
73Osteoarthritis with mild chondrodysplasiaEnrichmentCOL2A12.83
74Avascular necrosis of femoral head, primary, 1EnrichmentCOL2A12.83
75Czech dysplasiaEnrichmentCOL2A12.83
76Nail disorder, nonsyndromic congenital, 8EnrichmentCOL7A12.83
77Kniest dysplasiaEnrichmentCOL2A12.83
78Transient bullous dermolysis of the newbornEnrichmentCOL7A12.83
79Platyspondylic lethal skeletal dysplasia, torrance typeEnrichmentCOL2A12.83
80Epidermolysis bullosa with congenital localized absence of skin and deformity of nailsEnrichmentCOL7A12.83
81Spondyloepiphyseal dysplasia, stanescu typeEnrichmentCOL2A12.83
82Acrogeria, gottron typeEnrichmentCOL3A12.83
83Achondrogenesis, type iiEnrichmentCOL2A12.83
84Deafness, x-linked 6EnrichmentCOL4A62.83
85Combined osteogenesis imperfecta and ehlers-danlos syndrome 2EnrichmentCOL1A22.83
86Spondyloperipheral dysplasiaEnrichmentCOL2A12.83
87PorencephalyEnrichmentCOL4A12.83
88Epidermolysis bullosa pruriginosaEnrichmentCOL7A12.83
89Stickler syndrome, type i, nonsyndromic ocularEnrichmentCOL2A12.83
90Thyroid gland diseaseEnrichmentCOL7A12.83
91Vitreoretinopathy with phalangeal epiphyseal dysplasiaEnrichmentCOL2A12.83
92Recessive dystrophic epidermolysis bullosa-generalized otherEnrichmentCOL7A12.83
93Asphyxia neonatorumEnrichmentCOL1A12.83
94Col4a1-related disordersEnrichmentCOL4A12.83
95Autosomal dominant rhegmatogenous retinal detachmentEnrichmentCOL2A12.83
96Col4a1 or col4a2-related cerebral small vessel diseaseEnrichmentCOL4A12.83
97Multiple epiphyseal dysplasia with myopia and deafnessEnrichmentCOL2A12.83
98HypochondrogenesisEnrichmentCOL2A12.83
99X-linked alport syndromeEnrichmentCOL4A52.83
100PneumothoraxEnrichmentCOL5A12.83
101Localized dystrophic epidermolysis bullosa, acral formEnrichmentCOL7A12.83
102DysspondyloenchondromatosisEnrichmentCOL2A12.83
103Abdominal aortic aneurysmEnrichmentCOL3A12.83
104Recessive dystrophic epidermolysis bullosa inversaEnrichmentCOL7A12.83
105Type 2 collagen-related bone disorderEnrichmentCOL2A12.83
106Generalized dominant dystrophic epidermolysis bullosaEnrichmentCOL7A12.83
107Cerebral palsyEnrichmentCOL4A1, COL4A22.83
108Amelogenesis imperfecta, type iaEnrichmentLAMB32.79
109Epidermolysis bullosa, junctional 2c, laryngoonychocutaneousEnrichmentLAMA32.79
110Myasthenic syndrome, congenital, 5EnrichmentLAMB22.79
111Lissencephaly 1EnrichmentLAMB12.79
112Pierson syndromeEnrichmentLAMB22.79
113Epidermolysis bullosa, junctional 3b, severeEnrichmentLAMC22.79
114Epidermolysis bullosa, junctional 3a, intermediateEnrichmentLAMC22.79
115Epidermolysis bullosa, junctional 2a, intermediateEnrichmentLAMA32.79
116Epidermolysis bullosa, junctional 5a, intermediateEnrichmentITGB42.79
117Nephrotic syndrome, type 5, with or without ocular abnormalitiesEnrichmentLAMB22.79
118Epidermolysis bullosa, junctional 2b, severeEnrichmentLAMA32.79
119Localized junctional epidermolysis bullosa, non-herlitz typeEnrichmentITGB42.79
120Cardiomyopathy, dilated, 1jjEnrichmentLAMA42.66
121Cortical malformations, occipitalEnrichmentLAMC32.66
122Occipital pachygyria and polymicrogyriaEnrichmentLAMC32.66
123Fetomaternal alloimmune thrombocytopenia 3EnrichmentITGA22.66
124Immune dysregulation, neurodevelopmental defects, and colitisEnrichmentITGAV2.66
125Muscular dystrophy, congenital merosin-deficient, 1aEnrichmentLAMA22.61
126Epidermolysis bullosa, junctional 6, with pyloric atresiaEnrichmentITGA62.61
127Poretti-boltshauser syndromeEnrichmentLAMA12.61
128Lama2-related muscular dystrophyEnrichmentLAMA22.61
129Genetic steroid-resistant nephrotic syndromeEnrichmentCOL4A3, LAMA52.60
130Ehlers-danlos syndrome, vascular typeEnrichmentCOL3A12.53
131Epiphyseal dysplasia, multiple, 1EnrichmentCOL1A12.53
132Ehlers-danlos syndrome, hypermobility typeEnrichmentCOL3A12.53
133Bruck syndrome 1EnrichmentCOL1A22.53
134Otospondylomegaepiphyseal dysplasia, autosomal recessiveEnrichmentCOL2A12.53
135Dermatofibrosarcoma protuberansEnrichmentCOL1A12.53
136Legg-calve-perthes diseaseEnrichmentCOL2A12.53
137Specific language impairment 5EnrichmentCOL4A42.53
138Otospondylomegaepiphyseal dysplasia, autosomal dominantEnrichmentCOL2A12.53
139Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1EnrichmentCOL4A22.53
140Combined osteogenesis imperfecta and ehlers-danlos syndrome 1EnrichmentCOL1A12.53
141Fibromuscular dysplasia, multifocalEnrichmentCOL5A12.53
142Polymicrogyria with or without vascular-type ehlers-danlos syndromeEnrichmentCOL3A12.53
143Aortic dissectionEnrichmentCOL3A12.53
144Recessive dystrophic epidermolysis bullosaEnrichmentCOL7A12.53
145GlomerulonephritisEnrichmentCOL4A42.53
146Stickler syndrome, type iiEnrichmentCOL1A12.53
147Familial avascular necrosis of the femoral headEnrichmentCOL2A12.53
148Dentinogenesis imperfectaEnrichmentCOL1A22.53
149Epidermolysis bullosa dystrophicaEnrichmentCOL7A12.53
150Baraitser-winter syndrome 1EnrichmentACTB2.53
151Focal segmental glomerulosclerosis 1EnrichmentACTN42.53
152Arrhythmogenic right ventricular dysplasia, familial, 12EnrichmentJUP2.53
153Macular dystrophy, patterned, 2EnrichmentCTNNA12.53
154Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompactionEnrichmentACTN22.53
155Arrhythmogenic right ventricular dysplasia, familial, 13EnrichmentCTNNA32.53
156Naxos diseaseEnrichmentJUP2.53
157Cortical dysplasia, complex, with other brain malformations 9EnrichmentCTNNA22.53
158Congenital myopathy 8EnrichmentACTN22.53
159Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB2.53
160Agenesis of corpus callosum, cardiac, ocular, and genital syndromeEnrichmentCDH22.53
161Actn3 deficiencyEnrichmentACTN32.53
162Becker nevus syndromeEnrichmentACTB2.53
163Dystonia-deafness syndrome 1EnrichmentACTB2.53
164Arrhythmogenic right ventricular dysplasia, familial, 14EnrichmentCDH22.53
165Bleeding disorder, platelet-type, 15EnrichmentACTN12.53
166Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB2.53
167Myopathy, distal, 6, adult-onset, autosomal dominantEnrichmentACTN22.53
168Attention deficit-hyperactivity disorder 8EnrichmentCDH22.53
169Adenoid ameloblastomaEnrichmentCTNNB12.53
170Baraitser-winter syndromeEnrichmentACTB2.53
171Congenital smooth muscle hamartomaEnrichmentACTB2.53
172Developmental malformations-deafness-dystonia syndromeEnrichmentACTB2.53
173Microcystic stromal tumorEnrichmentCTNNB12.53
174Epidermolysis bullosa simplex 5c, with pyloric atresiaEnrichmentITGB42.49
175Bladder cancerEnrichmentCTNNA3, CTNNB12.49
176Epidermolysis bullosa simplex 1c, localizedEnrichmentITGB42.39
177Muscular dystrophy, limb-girdle, autosomal recessive 23EnrichmentLAMA22.39
178Aplasia cutis congenitaEnrichmentITGB42.39
179Mccune-albright syndromeEnrichmentCOL2A12.35
180Retinal arteries, tortuosity ofEnrichmentCOL4A12.35
181Spondyloepiphyseal dysplasia congenitaEnrichmentCOL2A12.35
182Nail disorder, nonsyndromic congenital, 4EnrichmentCOL7A12.35
183TelecanthusEnrichmentCOL5A22.35
184Glomerulopathy with fibronectin deposits 2EnrichmentFN12.35
185Caffey diseaseEnrichmentCOL1A12.35
186Brain small vessel disease 2EnrichmentCOL4A22.35
187Microangiopathy and leukoencephalopathy, pontine, autosomal dominantEnrichmentCOL4A12.35
188Pilarowski-bjornsson syndromeEnrichmentCOL4A32.35
189Alport syndrome 3b, autosomal recessiveEnrichmentCOL4A32.35
190Angiopathy, hereditary, with nephropathy, aneurysms, and muscle crampsEnrichmentCOL4A12.35
191Hematuria, benign familial, 2EnrichmentCOL4A32.35
192Multiple epiphyseal dysplasiaEnrichmentCOL2A12.35
193Hyperpigmentation of the skinEnrichmentCOL7A12.35
194Schwartz-jampel syndrome, type 1EnrichmentHSPG22.35
195Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndromeEnrichmentITGA32.35
196Glaucoma, primary closed-angleEnrichmentCOL18A12.35
197CakutEnrichmentACTG1, COL4A12.35
198Epidermolysis bullosa simplexEnrichmentITGB42.25
199PhenylketonuriaEnrichmentCOL1A12.23
200SchizencephalyEnrichmentCOL4A12.23
201Epidermolytic hyperkeratosisEnrichmentCOL7A12.23
202Rare x-linked non-syndromic sensorineural deafness type dfnEnrichmentCOL4A62.23
203Blepharocheilodontic syndrome 1EnrichmentCTNND12.23
204Osteopathia striata with cranial sclerosisEnrichmentCTNNB12.23
205Deafness, autosomal dominant 20EnrichmentACTG12.23
206Baraitser-winter syndrome 2EnrichmentACTG12.23
207Blepharocheilodontic syndrome 2EnrichmentCTNND12.23
208Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticityEnrichmentESAM2.23
209Childhood hepatocellular carcinomaEnrichmentCTNNB12.23
210Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB12.23
211TeratomaEnrichmentCTNNB12.23
212Congenital muscular dystrophyEnrichmentLAMA22.19
213Dyssegmental dysplasia, silverman-handmaker typeEnrichmentHSPG22.18
214Muscular dystrophy, congenital, due to integrin alpha-7 deficiencyEnrichmentITGA72.18
215Isolated dandy-walker malformation without hydrocephalusEnrichmentNID12.18
216Epidermolytic hyperkeratosis 1EnrichmentCOL7A12.13
217Retinal detachmentEnrichmentCOL2A12.13
218Familial cerebral saccular aneurysmEnrichmentCOL3A12.13
219Amelogenesis imperfecta, type ieEnrichmentLAMB32.09
220ThrombocytopeniaEnrichmentACTN1, ITGB32.06
221Developmental dysplasia of the hip 1EnrichmentCOL2A12.05
222Anterior segment dysgenesis 5EnrichmentCOL4A12.05
223Inguinal herniaEnrichmentCOL5A12.05
224Pain disorderEnrichmentCOL5A12.05
225Knobloch syndromeEnrichmentCOL18A12.05
226Desmoid disease, hereditaryEnrichmentCTNNB12.05
227Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentITGB32.05
228Bleeding disorder, platelet-type, 16EnrichmentITGB32.05
229Epidermolysis bullosa, lethal acantholyticEnrichmentJUP2.05
230Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB12.05
231Anus, imperforateEnrichmentCTNNB12.05
232Exudative vitreoretinopathy 7EnrichmentCTNNB12.05
233Desmoid tumorEnrichmentCTNNB12.05
234Intrinsic cardiomyopathyEnrichmentACTN22.05
235Butterfly-shaped pigment dystrophyEnrichmentCTNNA12.05
236Bleeding disorder, platelet-type, 24EnrichmentITGB32.05
237Presynaptic congenital myasthenic syndromesEnrichmentLAMA52.05
238Nevus, epidermalEnrichmentCOL7A11.99
239Multiple enchondromatosis, maffucci typeEnrichmentCOL2A11.99
240Amelogenesis imperfectaEnrichmentLAMB31.98
241Familial isolated dilated cardiomyopathyEnrichmentACTN2, LAMA41.97
242Knobloch syndrome 1EnrichmentCOL18A11.96
243Hereditary breast ovarian cancer syndromeEnrichmentCTNNA1, CTNNA21.94
244Gastroesophageal refluxEnrichmentCOL5A11.93
245Spastic paraplegia 4, autosomal dominantEnrichmentCOL3A11.93
246Orthostatic intoleranceEnrichmentCOL5A11.93
247Diffuse gastric and lobular breast cancer syndromeEnrichmentCTNNA11.93
248Polyposis syndrome, hereditary mixed, 1EnrichmentCTNNA11.93
249PilomatrixomaEnrichmentCTNNB11.93
250Aminoacylase 1 deficiencyEnrichmentACTB1.93
251Alazami syndromeEnrichmentCTNNB11.93
252CraniopharyngiomaEnrichmentCTNNB11.93
253Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.93
254Creatine phosphokinase, elevated serumEnrichmentLAMA21.89
255Isolated elevated serum creatine phosphokinase levelsEnrichmentLAMA21.89
256Familial thoracic aortic aneurysm and dissectionEnrichmentCOL3A11.88
257Marfan syndromeEnrichmentCOL2A11.83
258Peters-plus syndromeEnrichmentCOL4A11.83
259Stickler syndromeEnrichmentCOL2A11.83
260Exudative vitreoretinopathy 1EnrichmentCTNNB11.83
261Glanzmann thrombasthenia 2EnrichmentITGB31.83
262Coloboma of choroid and retinaEnrichmentACTG11.83
263Focal epilepsyEnrichmentNID11.81
264IchthyosisEnrichmentCOL7A11.79
265Cutis laxaEnrichmentCOL5A11.76
266Weyers acrofacial dysostosisEnrichmentCTNNB11.76
267Adrenocortical carcinomaEnrichmentCTNNB11.76
268Cleft lip with or without cleft palateEnrichmentCTNND11.76
269Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactylyEnrichmentCOL5A11.72
270Neural tube defectsEnrichmentITGB11.72
271ClubfootEnrichmentCOL5A11.72
272Aortic aneurysm, familial thoracic 1EnrichmentCOL3A11.69
273Walker-warburg syndromeEnrichmentCOL4A11.69
274CataractEnrichmentCOL5A11.69
275Isolated macular dystrophyEnrichmentCOL4A51.69
276Glanzmann thrombasthenia 1EnrichmentITGB31.69
277Gallbladder cancerEnrichmentCTNNB11.69
278Anterior segment dysgenesisEnrichmentCOL4A11.66
279Atypical hemolytic-uremic syndromeEnrichmentCOL4A51.66
280Rare genetic deafnessEnrichmentACTG1, COL4A51.65
281Dilated cardiomyopathyEnrichmentACTN2, JUP1.63
282Exudative vitreoretinopathyEnrichmentCTNNB11.63
283Beckwith-wiedemann syndromeEnrichmentCOL7A11.58
284Heart, malformation ofEnrichmentCOL2A11.58
285Polycystic kidney diseaseEnrichmentCOL4A41.58
286Adult hepatocellular carcinomaEnrichmentCTNNB11.58
287Colorectal cancerEnrichmentCTNNA1, CTNNB11.57
288Chromosome 1p36 deletion syndromeEnrichmentHSPG21.55
289Cat eye syndromeEnrichmentACTG11.54
290HepatoblastomaEnrichmentCOL7A11.52
291Congenital myopathy 4a, autosomal dominantEnrichmentITGA71.49
292HydrocephalusEnrichmentNID11.49
293Charcot-marie-tooth diseaseEnrichmentLAMA21.48
294ScoliosisEnrichmentCOL2A11.46
295MedulloblastomaEnrichmentCTNNB11.39
296Stargardt disease 1EnrichmentCOL2A11.36
297Cystic fibrosisEnrichmentCEACAM61.34
298Wolff-parkinson-white syndromeEnrichmentJUP1.34
299Polycystic liver diseaseEnrichmentCTNNB11.31
300Autosomal dominant polycystic liver diseaseEnrichmentCTNNB11.31
301Arteriovenous malformations of the brainEnrichmentCDH21.26
302CraniosynostosisEnrichmentCTNNA11.24
303LissencephalyEnrichmentACTG11.22
304Severe covid-19EnrichmentITGAV1.21
305Hepatocellular carcinomaEnrichmentCTNNB11.20
306Myocardial infarctionEnrichmentITGB31.20
307Auditory neuropathyEnrichmentCDH21.13
308HypertelorismEnrichmentCOL1A11.13
309Long qt syndromeEnrichmentCTNNA31.06
310Familial hypertrophic cardiomyopathyEnrichmentACTN21.03
311Left ventricular noncompactionEnrichmentACTN21.01
312Non-syndromic genetic deafnessEnrichmentACTG11.00
313Nonsyndromic hearing lossEnrichmentACTG10.93
314Hypertrophic cardiomyopathyEnrichmentACTN20.92
315Hereditary retinal dystrophyEnrichmentCOL18A1, LAMA10.87
316Fundus dystrophyEnrichmentCOL18A1, LAMA10.87
317Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG10.85
318Ovarian cancerEnrichmentCTNNB10.59
319Congenital nervous system abnormalityEnrichmentCTNNB10.57
320Nervous system diseaseEnrichmentCTNNB10.57
321Inherited cancer-predisposing syndromeEnrichmentCTNNA10.49
322Retinitis pigmentosaEnrichmentCOL18A10.42

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