Cell adhesion_ECM remodeling

No Pathway Network information available for Cell adhesion_ECM remodeling

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

Disorders associated with Cell adhesion_ECM remodeling SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Digenic alport syndromeEnrichmentCOL4A3, COL4A4, COL4A57.06
2Alport syndrome 3a, autosomal dominantEnrichmentCOL4A3, COL4A4, COL4A56.07
3Autosomal dominant alport syndromeEnrichmentCOL4A3, COL4A4, COL4A56.07
4Alport syndromeEnrichmentCOL4A3, COL4A4, COL4A56.07
5Epidermolysis bullosa, junctional 1a, intermediateEnrichmentLAMA3, LAMB3, LAMC25.77
6Epidermolysis bullosa, junctional 1b, severeEnrichmentLAMA3, LAMB3, LAMC25.77
7Junctional epidermolysis bullosa non-herlitz typeEnrichmentLAMA3, LAMB3, LAMC25.77
8Junctional epidermolysis bullosaEnrichmentLAMA3, LAMB3, LAMC25.15
9Spondyloepimetaphyseal dysplasia, strudwick typeEnrichmentCOL2A1, FN14.70
10Spondylometaphyseal dysplasia, corner fracture typeEnrichmentCOL2A1, FN14.70
11Ehlers-danlos syndrome, arthrochalasia type, 2EnrichmentCOL1A1, COL1A24.70
12Metaphyseal anadysplasiaEnrichmentMMP13, MMP94.70
13Ehlers-danlos/osteogenesis imperfecta syndromeEnrichmentCOL1A1, COL1A24.70
14X-linked diffuse leiomyomatosis-alport syndromeEnrichmentCOL4A5, COL4A64.70
15Osteogenesis imperfecta, type ivEnrichmentCOL1A1, COL1A2, SPARC4.62
16Kidney diseaseEnrichmentCOL4A3, COL4A4, COL4A54.42
17Nephrotic syndromeEnrichmentCOL4A3, COL4A4, COL4A5, FN14.40
18Hematuria, benign familial, 1EnrichmentCOL4A3, COL4A44.23
19Multicentric osteolysis, nodulosis, and arthropathyEnrichmentMMP14, MMP24.23
20High bone mass osteogenesis imperfectaEnrichmentCOL1A1, COL1A24.23
21Ehlers-danlos syndromeEnrichmentCOL1A1, COL1A2, COL3A14.10
22Ehlers-danlos syndrome, arthrochalasia type, 1EnrichmentCOL1A1, COL1A23.93
23Brain small vessel disease 1 with or without ocular anomaliesEnrichmentCOL4A1, COL4A23.93
24Alport syndrome 2, autosomal recessiveEnrichmentCOL4A3, COL4A43.93
25Autosomal recessive alport syndromeEnrichmentCOL4A3, COL4A43.93
26Osteogenesis imperfecta with normal sclerae, dominant formEnrichmentCOL1A1, COL1A23.93
27Insulin-like growth factor iEnrichmentIGF1, IGF1R3.71
28Familial porencephalyEnrichmentCOL4A1, COL4A23.71
29Ehlers-danlos syndrome, classic type, 1EnrichmentCOL1A1, COL1A23.53
30Osteogenesis imperfecta, type iEnrichmentCOL1A1, COL1A23.53
31Hemorrhage, intracerebralEnrichmentCOL4A1, COL4A23.53
32KeratoconusEnrichmentCOL1A1, COL4A13.53
33Classic ehlers-danlos syndromeEnrichmentCOL1A1, COL1A23.53
34Osteogenesis imperfecta, type iiEnrichmentCOL1A1, COL1A23.39
35Stickler syndromeEnrichmentCOL2A1, VCAN3.06
36Primary bone dysplasiaEnrichmentCOL1A1, COL1A23.06
37OsteochondrodysplasiaEnrichmentCOL1A1, COL1A22.97
38Chronic kidney diseaseEnrichmentCOL4A4, COL4A52.82
39Nk-cell enteropathyEnrichmentERBB4, IGF1R2.82
40OsteoporosisEnrichmentCOL1A1, COL1A22.76
41Osteogenesis imperfecta, type iiiEnrichmentCOL1A1, COL1A22.70
42MyopiaEnrichmentCOL2A1, COL4A42.70
43HypertensionEnrichmentCOL4A4, COL4A52.64
44Arteriovenous malformations of the brainEnrichmentEGFR, TIMP32.49
45Focal segmental glomerulosclerosisEnrichmentCOL4A4, COL4A52.45
46Skin diseaseEnrichmentLAMB3, LAMC22.36
47Stickler syndrome, type iEnrichmentCOL2A12.35
48Epiphyseal dysplasia, multiple, with myopia and conductive deafnessEnrichmentCOL2A12.35
49Ehlers-danlos syndrome, cardiac valvular typeEnrichmentCOL1A22.35
50Spondylometaphyseal dysplasia, algerian typeEnrichmentCOL2A12.35
51Alport syndrome 1, x-linkedEnrichmentCOL4A52.35
52Immunodeficiency 50EnrichmentMSN2.35
53Osteoarthritis with mild chondrodysplasiaEnrichmentCOL2A12.35
54Avascular necrosis of femoral head, primary, 1EnrichmentCOL2A12.35
55Czech dysplasiaEnrichmentCOL2A12.35
56Kniest dysplasiaEnrichmentCOL2A12.35
57Cardiomyopathy, dilated, 1jjEnrichmentLAMA42.35
58Platyspondylic lethal skeletal dysplasia, torrance typeEnrichmentCOL2A12.35
59Spondyloepiphyseal dysplasia, stanescu typeEnrichmentCOL2A12.35
60Lissencephaly 5EnrichmentLAMB12.35
61Acrogeria, gottron typeEnrichmentCOL3A12.35
62Achondrogenesis, type iiEnrichmentCOL2A12.35
63Angioedema, hereditary, 4EnrichmentPLG2.35
64Deafness, x-linked 6EnrichmentCOL4A62.35
65Combined osteogenesis imperfecta and ehlers-danlos syndrome 2EnrichmentCOL1A22.35
66Winchester syndromeEnrichmentMMP142.35
67Spondyloperipheral dysplasiaEnrichmentCOL2A12.35
68PorencephalyEnrichmentCOL4A12.35
69Plasminogen activator inhibitor-1 deficiencyEnrichmentSERPINE12.35
70Stickler syndrome, type i, nonsyndromic ocularEnrichmentCOL2A12.35
71Coronary heart disease 6EnrichmentMMP32.35
72Amyotrophic lateral sclerosis 19EnrichmentERBB42.35
73Vitreoretinopathy with phalangeal epiphyseal dysplasiaEnrichmentCOL2A12.35
74Asphyxia neonatorumEnrichmentCOL1A12.35
75Col4a1-related disordersEnrichmentCOL4A12.35
76Autosomal dominant rhegmatogenous retinal detachmentEnrichmentCOL2A12.35
77Col4a1 or col4a2-related cerebral small vessel diseaseEnrichmentCOL4A12.35
78Multiple epiphyseal dysplasia with myopia and deafnessEnrichmentCOL2A12.35
79HypochondrogenesisEnrichmentCOL2A12.35
80X-linked alport syndromeEnrichmentCOL4A52.35
81DysspondyloenchondromatosisEnrichmentCOL2A12.35
82Abdominal aortic aneurysmEnrichmentCOL3A12.35
83Congenital plasminogen activator inhibitor type 1 deficiencyEnrichmentSERPINE12.35
84Lethal hydranencephaly-diaphragmatic hernia syndromeEnrichmentPLAT2.35
85Type 2 collagen-related bone disorderEnrichmentCOL2A12.35
86Brittle bone disorderEnrichmentCOL1A1, COL1A22.32
87Ehlers-danlos syndrome, vascular typeEnrichmentCOL3A12.05
88Epiphyseal dysplasia, multiple, 1EnrichmentCOL1A12.05
89Amelogenesis imperfecta, type iaEnrichmentLAMB32.05
90Ehlers-danlos syndrome, hypermobility typeEnrichmentCOL3A12.05
91Sorsby fundus dystrophyEnrichmentTIMP32.05
92Wagner vitreoretinopathyEnrichmentVCAN2.05
93Epidermolysis bullosa, junctional 2c, laryngoonychocutaneousEnrichmentLAMA32.05
94Bruck syndrome 1EnrichmentCOL1A22.05
95Metaphyseal dysplasia, spahr typeEnrichmentMMP132.05
96Plasminogen deficiency, type iEnrichmentPLG2.05
97Otospondylomegaepiphyseal dysplasia, autosomal recessiveEnrichmentCOL2A12.05
98Spondyloepimetaphyseal dysplasia, missouri typeEnrichmentMMP132.05
99Quebec platelet disorderEnrichmentPLAU2.05
100Dermatofibrosarcoma protuberansEnrichmentCOL1A12.05
101Legg-calve-perthes diseaseEnrichmentCOL2A12.05
102Lissencephaly 1EnrichmentLAMB12.05
103Kallikrein, decreased urinary activity ofEnrichmentKLK12.05
104Specific language impairment 5EnrichmentCOL4A42.05
105Silver-russell syndrome 3EnrichmentIGF22.05
106Otospondylomegaepiphyseal dysplasia, autosomal dominantEnrichmentCOL2A12.05
107Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1EnrichmentCOL4A22.05
108Combined osteogenesis imperfecta and ehlers-danlos syndrome 1EnrichmentCOL1A12.05
109Epidermolysis bullosa, junctional 3b, severeEnrichmentLAMC22.05
110Epidermolysis bullosa, junctional 3a, intermediateEnrichmentLAMC22.05
111Epidermolysis bullosa, junctional 2a, intermediateEnrichmentLAMA32.05
112Polymicrogyria with or without vascular-type ehlers-danlos syndromeEnrichmentCOL3A12.05
113Aortic dissectionEnrichmentCOL3A12.05
114Recessive dystrophic epidermolysis bullosaEnrichmentMMP12.05
115Osteogenesis imperfecta, type xviiEnrichmentSPARC2.05
116GlomerulonephritisEnrichmentCOL4A42.05
117Metaphyseal anadysplasia 2EnrichmentMMP92.05
118Stickler syndrome, type iiEnrichmentCOL1A12.05
119Hereditary angioedemaEnrichmentPLG2.05
120Familial avascular necrosis of the femoral headEnrichmentCOL2A12.05
121Epidermolysis bullosa, junctional 2b, severeEnrichmentLAMA32.05
122Wagner diseaseEnrichmentVCAN2.05
123Growth delay due to insulin-like growth factor type 1 deficiencyEnrichmentIGF12.05
124Dentinogenesis imperfectaEnrichmentCOL1A22.05
125Silver-russell syndrome due to an imprinting defect of 11p15EnrichmentIGF22.05
126Silver-russell syndrome due to 11p15 microduplicationEnrichmentIGF22.05
127Cerebral palsyEnrichmentCOL4A1, COL4A21.88
128Mccune-albright syndromeEnrichmentCOL2A11.87
129Retinal arteries, tortuosity ofEnrichmentCOL4A11.87
130Angioedema, hereditary, 1EnrichmentPLG1.87
131Spondyloepiphyseal dysplasia congenitaEnrichmentCOL2A11.87
132Glomerulopathy with fibronectin deposits 2EnrichmentFN11.87
133Caffey diseaseEnrichmentCOL1A11.87
134Brain small vessel disease 2EnrichmentCOL4A21.87
135Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.87
136Microangiopathy and leukoencephalopathy, pontine, autosomal dominantEnrichmentCOL4A11.87
137Pilarowski-bjornsson syndromeEnrichmentCOL4A31.87
138Alport syndrome 3b, autosomal recessiveEnrichmentCOL4A31.87
139Poretti-boltshauser syndromeEnrichmentLAMA11.87
140Angiopathy, hereditary, with nephropathy, aneurysms, and muscle crampsEnrichmentCOL4A11.87
141Hematuria, benign familial, 2EnrichmentCOL4A31.87
142Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R1.87
143Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.87
144Multiple epiphyseal dysplasiaEnrichmentCOL2A11.87
145Beckwith-wiedemann syndrome due to imprinting defect of 11p15EnrichmentIGF21.87
146Isolated dandy-walker malformation without hydrocephalusEnrichmentNID11.87
147Familial thoracic aortic aneurysm and aortic dissectionEnrichmentCOL1A1, COL3A11.78
148PhenylketonuriaEnrichmentCOL1A11.75
149SchizencephalyEnrichmentCOL4A11.75
150Silver-russell syndrome due to a point mutationEnrichmentIGF21.75
151Rare x-linked non-syndromic sensorineural deafness type dfnEnrichmentCOL4A61.75
152Pseudomyogenic hemangioendotheliomaEnrichmentSERPINE11.75
153Alzheimer disease 2EnrichmentPLAU1.65
154Retinal detachmentEnrichmentCOL2A11.65
155Epidermolysis bullosaEnrichmentLAMB31.65
156Familial cerebral saccular aneurysmEnrichmentCOL3A11.65
157Developmental dysplasia of the hip 1EnrichmentCOL2A11.57
158Cowden syndrome 1EnrichmentEGFR1.57
159Hemihyperplasia, isolatedEnrichmentIGF21.57
160Anterior segment dysgenesis 5EnrichmentCOL4A11.57
161Lung squamous cell carcinomaEnrichmentEGFR1.57
162Silver-russell syndrome 1EnrichmentIGF21.51
163Squamous cell carcinoma, head and neckEnrichmentEGFR1.51
164Multiple enchondromatosis, maffucci typeEnrichmentCOL2A11.51
165Focal epilepsyEnrichmentNID11.51
166Spastic paraplegia 4, autosomal dominantEnrichmentCOL3A11.45
167Familial thoracic aortic aneurysm and dissectionEnrichmentCOL3A11.40
168Hereditary retinal dystrophyEnrichmentCOL2A1, LAMA1, TIMP3, VCAN1.38
169Fundus dystrophyEnrichmentCOL2A1, LAMA1, TIMP3, VCAN1.38
170Marfan syndromeEnrichmentCOL2A11.36
171Peters-plus syndromeEnrichmentCOL4A11.36
172Amelogenesis imperfecta, type ieEnrichmentLAMB31.36
173Lung non-small cell carcinomaEnrichmentEGFR1.32
174Lip and oral cavity carcinomaEnrichmentEGFR1.28
175Neural tube defectsEnrichmentITGB11.24
176Amelogenesis imperfectaEnrichmentLAMB31.24
177Multiple sclerosisEnrichmentLAMB11.21
178Aortic aneurysm, familial thoracic 1EnrichmentCOL3A11.21
179Lung cancer susceptibility 3EnrichmentEGFR1.21
180Walker-warburg syndromeEnrichmentCOL4A11.21
181Isolated macular dystrophyEnrichmentCOL4A51.21
182Wilms tumor 1EnrichmentIGF21.18
183Corpus callosum, agenesis ofEnrichmentCOL4A11.18
184HydrocephalusEnrichmentNID11.18
185Anterior segment dysgenesisEnrichmentCOL4A11.18
186Atypical hemolytic-uremic syndromeEnrichmentCOL4A51.18
187Isolated corpus callosum agenesisEnrichmentCOL4A11.18
188Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCOL4A11.18
189GliosarcomaEnrichmentEGFR1.16
190Alzheimer disease, familial, 1EnrichmentPLAU1.13
191Giant cell glioblastomaEnrichmentEGFR1.13
192Beckwith-wiedemann syndromeEnrichmentIGF21.11
193Heart, malformation ofEnrichmentCOL2A11.11
194Human immunodeficiency virus type 1EnrichmentCXCR11.11
195Polycystic kidney diseaseEnrichmentCOL4A41.11
196ScoliosisEnrichmentCOL2A10.99
197MicrocephalyEnrichmentCOL4A1, IGF1R0.98
198Bladder cancerEnrichmentEGFR0.91
199Stargardt disease 1EnrichmentCOL2A10.90
200Lung cancerEnrichmentEGFR0.87
201Cystic fibrosisEnrichmentPLG0.87
202Connective tissue diseaseEnrichmentCOL2A10.87
203CakutEnrichmentCOL4A10.85
204Genetic steroid-resistant nephrotic syndromeEnrichmentCOL4A30.85
205Autosomal dominant non-syndromic intellectual disabilityEnrichmentERBB40.69
206HypertelorismEnrichmentCOL1A10.68
207Familial isolated dilated cardiomyopathyEnrichmentLAMA40.67
208Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentERBB40.64
209Autosomal recessive non-syndromic intellectual disabilityEnrichmentEZR0.64
210Rare genetic deafnessEnrichmentCOL4A50.52
211Colorectal cancerEnrichmentIGF20.49
212Ovarian cancerEnrichmentEGFR0.44
213Inherited cancer-predisposing syndromeEnrichmentEGFR0.35

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