Non-integrin membrane-ECM interactions

Pathway network for the Non-integrin membrane-ECM interactions SuperPath

Sources:
  • Reactome
  • QIAGEN

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

Disorders associated with Non-integrin membrane-ECM interactions SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Ehlers-danlos syndrome, classic type, 1EnrichmentCOL1A1, COL1A2, COL5A1, COL5A29.68
2Classic ehlers-danlos syndromeEnrichmentCOL1A1, COL1A2, COL5A1, COL5A29.68
3Ehlers-danlos syndromeEnrichmentCOL1A1, COL1A2, COL3A1, COL5A1, COL5A29.57
4Junctional epidermolysis bullosaEnrichmentITGA6, ITGB4, LAMA3, LAMB3, LAMC29.10
5Dilated cardiomyopathyEnrichmentACTA1, ACTC1, DMD, DTNA, LAMA2, SGCB, SGCD8.86
6Epidermolysis bullosa, junctional 1a, intermediateEnrichmentITGB4, LAMA3, LAMB3, LAMC27.78
7Junctional epidermolysis bullosa non-herlitz typeEnrichmentITGB4, LAMA3, LAMB3, LAMC27.78
8Autosomal recessive limb-girdle muscular dystrophyEnrichmentSGCA, SGCB, SGCD, SGCG6.80
9Nephrotic syndromeEnrichmentCOL4A3, COL4A4, COL4A5, FN1, LAMA5, LAMB26.75
10Digenic alport syndromeEnrichmentCOL4A3, COL4A4, COL4A56.70
11Epidermolysis bullosa, junctional 1b, severeEnrichmentLAMA3, LAMB3, LAMC26.47
12Creatine phosphokinase, elevated serumEnrichmentDAG1, DMD, LAMA25.89
13Isolated elevated serum creatine phosphokinase levelsEnrichmentDAG1, DMD, LAMA25.89
14Kidney diseaseEnrichmentCOL4A3, COL4A4, COL4A5, LAMB25.84
15Familial thoracic aortic aneurysm and aortic dissectionEnrichmentCOL1A1, COL3A1, COL5A1, COL5A25.80
16Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG15.73
17Alport syndrome 3a, autosomal dominantEnrichmentCOL4A3, COL4A4, COL4A55.71
18Autosomal dominant alport syndromeEnrichmentCOL4A3, COL4A4, COL4A55.71
19Alport syndromeEnrichmentCOL4A3, COL4A4, COL4A55.71
20Ehlers-danlos syndrome, arthrochalasia type, 2EnrichmentCOL1A1, COL1A25.42
21Ehlers-danlos/osteogenesis imperfecta syndromeEnrichmentCOL1A1, COL1A25.42
22KeratoconusEnrichmentCOL1A1, COL4A1, COL5A25.41
23Familial isolated dilated cardiomyopathyEnrichmentACTC1, DMD, LAMA4, SGCD4.95
24Ehlers-danlos syndrome, classic type, 2EnrichmentCOL5A1, COL5A24.94
25High bone mass osteogenesis imperfectaEnrichmentCOL1A1, COL1A24.94
26Muscular dystrophy, duchenne typeEnrichmentDMD, UTRN4.69
27Ehlers-danlos syndrome, arthrochalasia type, 1EnrichmentCOL1A1, COL1A24.64
28Osteogenesis imperfecta with normal sclerae, dominant formEnrichmentCOL1A1, COL1A24.64
29Muscular dystrophyEnrichmentDMD, SGCA, SGCD4.48
30Spondyloepimetaphyseal dysplasia, strudwick typeEnrichmentCOL2A1, FN14.46
31Spondylometaphyseal dysplasia, corner fracture typeEnrichmentCOL2A1, FN14.46
32Otospondylomegaepiphyseal dysplasia, autosomal recessiveEnrichmentCOL11A2, COL2A14.46
33Dermatofibrosarcoma protuberansEnrichmentCOL1A1, PDGFB4.46
34Otospondylomegaepiphyseal dysplasia, autosomal dominantEnrichmentCOL11A2, COL2A14.46
35FibrochondrogenesisEnrichmentCOL11A1, COL11A24.46
36Stickler syndrome, type iiEnrichmentCOL11A1, COL1A14.46
37X-linked diffuse leiomyomatosis-alport syndromeEnrichmentCOL4A5, COL4A64.46
38Connective tissue diseaseEnrichmentACTA2, COL11A1, COL2A1, COL5A14.45
39Osteogenesis imperfecta, type iEnrichmentCOL1A1, COL1A24.24
40Epidermolysis bullosa, junctional 5b, with pyloric atresiaEnrichmentITGA6, ITGB44.24
41Fetomaternal alloimmune thrombocytopenia 1EnrichmentITGA2, ITGB34.24
42Multiple sclerosisEnrichmentITGB4, LAMA5, LAMB14.16
43Osteogenesis imperfecta, type iiEnrichmentCOL1A1, COL1A24.10
44MyopiaEnrichmentCOL11A1, COL2A1, COL4A44.07
45Hematuria, benign familial, 1EnrichmentCOL4A3, COL4A43.99
46TelecanthusEnrichmentCOL11A1, COL5A23.99
47Autosomal dominant macrothrombocytopeniaEnrichmentACTN1, ITGB33.77
48Primary bone dysplasiaEnrichmentCOL1A1, COL1A23.77
49Brain small vessel disease 1 with or without ocular anomaliesEnrichmentCOL4A1, COL4A23.69
50Alport syndrome 2, autosomal recessiveEnrichmentCOL4A3, COL4A43.69
51Autosomal recessive alport syndromeEnrichmentCOL4A3, COL4A43.69
52OsteochondrodysplasiaEnrichmentCOL1A1, COL1A23.68
53Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG1, COL11A1, COL11A2, TNC3.61
54Skin diseaseEnrichmentITGB4, LAMB3, LAMC23.55
55Osteogenesis imperfecta, type ivEnrichmentCOL1A1, COL1A23.53
56Epidermolysis bullosaEnrichmentITGA6, LAMB33.47
57Familial porencephalyEnrichmentCOL4A1, COL4A23.47
58OsteoporosisEnrichmentCOL1A1, COL1A23.47
59Presynaptic congenital myasthenic syndromesEnrichmentAGRN, LAMA53.43
60Osteogenesis imperfecta, type iiiEnrichmentCOL1A1, COL1A23.40
61Hemorrhage, intracerebralEnrichmentCOL4A1, COL4A23.29
62Brittle bone disorderEnrichmentCOL1A1, COL1A23.03
63Neuromuscular diseaseEnrichmentACTA1, SGCD2.99
64Pyloric stenosis, infantile hypertrophic, 1EnrichmentNOS12.85
65Hyperopia, highEnrichmentNRXN12.85
66Baraitser-winter syndrome 1EnrichmentACTB2.85
67Muscular dystrophy, becker typeEnrichmentDMD2.85
68Congenital myopathy 2a, typical, autosomal dominantEnrichmentACTA12.85
69Muscular dystrophy-dystroglycanopathy , type a, 9EnrichmentDAG12.85
70Myopathy, scapulohumeroperonealEnrichmentACTA12.85
71Megacystis-microcolon-intestinal hypoperistalsis syndrome 5EnrichmentACTG22.85
72Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2EnrichmentDTNA2.85
73Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB2.85
74Cardiomyopathy, dilated, 3bEnrichmentDMD2.85
75Pitt-hopkins-like syndrome 2EnrichmentNRXN12.85
76Left ventricular noncompaction 1EnrichmentDTNA2.85
77Becker nevus syndromeEnrichmentACTB2.85
78Dystonia-deafness syndrome 1EnrichmentACTB2.85
79Visceral neuropathy, familial, 3, autosomal dominantEnrichmentACTG22.85
80Long qt syndrome 12EnrichmentSNTA12.85
81Congenital myopathy 2b, severe infantile, autosomal recessiveEnrichmentACTA12.85
82Chromosome 2p16.3 deletion syndromeEnrichmentNRXN12.85
83Autosomal dominant familial visceral neuropathyEnrichmentACTG22.85
84Muscular dystrophy-dystroglycanopathy , type c, 9EnrichmentDAG12.85
85Congenital myopathy 2c, severe infantile, autosomal dominantEnrichmentACTA12.85
86Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB2.85
87Nrxn1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbanceEnrichmentNRXN12.85
88Baraitser-winter syndromeEnrichmentACTB2.85
89Symptomatic form of muscular dystrophy of duchenne and becker in female carriersEnrichmentDMD2.85
90Zebra body myopathyEnrichmentACTA12.85
91Congenital smooth muscle hamartomaEnrichmentACTB2.85
92Duchenne and becker muscular dystrophyEnrichmentDMD2.85
93Developmental malformations-deafness-dystonia syndromeEnrichmentACTB2.85
94Muscle-eye-brain disease with bilateral multicystic leucodystrophyEnrichmentDAG12.85
95Actin-accumulation myopathyEnrichmentACTA12.85
96Myopathic intestinal pseudoobstructionEnrichmentACTG22.85
97Qualitative or quantitative defects of dystrophinEnrichmentDMD2.85
98Actg2 visceral myopathyEnrichmentACTG22.85
99Laminin subunit alpha 2-related muscular dystrophyEnrichmentLAMA22.85
100MyopathyEnrichmentACTA1, DMD2.85
101Stickler syndromeEnrichmentCOL11A1, COL2A12.82
102Ehlers-danlos syndrome, cardiac valvular typeEnrichmentCOL1A22.70
103Deafness, autosomal dominant 56EnrichmentTNC2.70
104Acrogeria, gottron typeEnrichmentCOL3A12.70
105Combined osteogenesis imperfecta and ehlers-danlos syndrome 2EnrichmentCOL1A22.70
106Bleeding disorder, platelet-type, 15EnrichmentACTN12.70
107Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophyEnrichmentTRAPPC42.70
108Asphyxia neonatorumEnrichmentCOL1A12.70
109Cask-related intellectual disabilityEnrichmentCASK2.70
110Fetomaternal alloimmune thrombocytopenia 3EnrichmentITGA22.70
111Immune dysregulation, neurodevelopmental defects, and colitisEnrichmentITGAV2.70
112PneumothoraxEnrichmentCOL5A12.70
113Abdominal aortic aneurysmEnrichmentCOL3A12.70
114Chronic kidney diseaseEnrichmentCOL4A4, COL4A52.59
115Muscular dystrophy, limb-girdle, autosomal recessive 6EnrichmentSGCD2.58
116Cardiomyopathy, dilated, 1jjEnrichmentLAMA42.58
117Lissencephaly 5EnrichmentLAMB12.58
118Muscular dystrophy, limb-girdle, autosomal recessive 5EnrichmentSGCG2.58
119Nephrotic syndrome, type 26EnrichmentLAMA52.58
120Cardiomyopathy, dilated, 1lEnrichmentSGCD2.58
121Autosomal recessive limb-girdle muscular dystrophy type 2cEnrichmentSGCG2.58
122Cortical malformations, occipitalEnrichmentLAMC32.58
123Autosomal recessive limb-girdle muscular dystrophy type 2fEnrichmentSGCD2.58
124Bent bone dysplasia syndrome 2EnrichmentLAMA52.58
125Occipital pachygyria and polymicrogyriaEnrichmentLAMC32.58
126Qualitative or quantitative defects of sarcoglycanEnrichmentSGCA2.58
127Lama5-related multisystemic syndromeEnrichmentLAMA52.58
128Aortic aneurysm, familial thoracic 2EnrichmentACTA22.55
129Deafness, autosomal dominant 20EnrichmentACTG12.55
130Smooth muscle dysfunction syndromeEnrichmentACTA22.55
131Aortic aneurysm, familial thoracic 6EnrichmentACTA22.55
132Baraitser-winter syndrome 2EnrichmentACTG12.55
133Moyamoya disease 5EnrichmentACTA22.55
134Schwartz-jampel syndrome, type 1EnrichmentHSPG22.55
135Intestinal obstructionEnrichmentACTG22.55
136Walker-warburg syndromeEnrichmentCOL4A1, DAG12.53
137SchizophreniaEnrichmentDMD, NRXN12.52
138Familial hypertrophic cardiomyopathyEnrichmentACTC1, DMD2.46
139Left ventricular noncompactionEnrichmentACTC1, DTNA2.41
140HypertensionEnrichmentCOL4A4, COL4A52.41
141Ehlers-danlos syndrome, vascular typeEnrichmentCOL3A12.40
142Epiphyseal dysplasia, multiple, 1EnrichmentCOL1A12.40
143Ehlers-danlos syndrome, hypermobility typeEnrichmentCOL3A12.40
144Camurati-engelmann disease 1EnrichmentTGFB12.40
145Bruck syndrome 1EnrichmentCOL1A22.40
146Fg syndrome 4EnrichmentCASK2.40
147Combined osteogenesis imperfecta and ehlers-danlos syndrome 1EnrichmentCOL1A12.40
148Fibromuscular dysplasia, multifocalEnrichmentCOL5A12.40
149Epidermolysis bullosa, junctional 5a, intermediateEnrichmentITGB42.40
150Polymicrogyria with or without vascular-type ehlers-danlos syndromeEnrichmentCOL3A12.40
151Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB12.40
152Aortic dissectionEnrichmentCOL3A12.40
153Syndromic x-linked intellectual disabilityEnrichmentCASK2.40
154Camurati-engelmann diseaseEnrichmentTGFB12.40
155Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomaliesEnrichmentTRAPPC42.40
156Localized junctional epidermolysis bullosa, non-herlitz typeEnrichmentITGB42.40
157Dentinogenesis imperfectaEnrichmentCOL1A22.40
158ThrombocytopeniaEnrichmentACTN1, ITGB32.39
159Dyssegmental dysplasia, silverman-handmaker typeEnrichmentHSPG22.38
160Muscular dystrophy, congenital merosin-deficient, 1aEnrichmentLAMA22.38
161Lama2-related muscular dystrophyEnrichmentLAMA22.38
162AutismEnrichmentDMD, NRXN12.35
163Heart, malformation ofEnrichmentCOL11A2, COL2A12.31
164Amelogenesis imperfecta, type iaEnrichmentLAMB32.28
165Epidermolysis bullosa, junctional 2c, laryngoonychocutaneousEnrichmentLAMA32.28
166Myasthenic syndrome, congenital, 5EnrichmentLAMB22.28
167Cardiomyopathy, dilated, 1rEnrichmentACTC12.28
168Muscular dystrophy, limb-girdle, autosomal recessive 4EnrichmentSGCB2.28
169Cardiomyopathy, familial hypertrophic, 11EnrichmentACTC12.28
170Lissencephaly 1EnrichmentLAMB12.28
171Muscular dystrophy, limb-girdle, autosomal recessive 3EnrichmentSGCA2.28
172Pierson syndromeEnrichmentLAMB22.28
173Atrial septal defect 5EnrichmentACTC12.28
174Epidermolysis bullosa, junctional 3b, severeEnrichmentLAMC22.28
175Epidermolysis bullosa, junctional 3a, intermediateEnrichmentLAMC22.28
176Epidermolysis bullosa, junctional 2a, intermediateEnrichmentLAMA32.28
177Nephrotic syndrome, type 5, with or without ocular abnormalitiesEnrichmentLAMB22.28
178Autosomal recessive limb-girdle muscular dystrophy type 2dEnrichmentSGCA2.28
179Epidermolysis bullosa, junctional 2b, severeEnrichmentLAMA32.28
180Qualitative or quantitative defects of beta-sarcoglycanEnrichmentSGCB2.28
181GlycoproteinosisEnrichmentSGCB2.28
182Sgce myoclonus-dystoniaEnrichmentSGCE2.28
183Distal arthrogryposisEnrichmentACTA1, ACTC12.26
184Nemaline myopathy 2EnrichmentACTA12.25
185Megacystis-microcolon-intestinal hypoperistalsis syndrome 1EnrichmentACTG22.25
186Autoimmune lymphoproliferative syndromeEnrichmentACTA22.25
187Aminoacylase 1 deficiencyEnrichmentACTB2.25
188Atrial fibrillationEnrichmentSNTA12.25
189Idiopathic achalasiaEnrichmentNOS12.25
190Intermediate nemaline myopathyEnrichmentACTA12.25
191Pseudomyogenic hemangioendotheliomaEnrichmentACTB2.25
192Stickler syndrome, type iEnrichmentCOL2A12.23
193Carpal tunnel syndrome 1EnrichmentTTR2.23
194Hyperthyroxinemia, dystransthyretinemicEnrichmentTTR2.23
195Epiphyseal dysplasia, multiple, with myopia and conductive deafnessEnrichmentCOL2A12.23
196Spondylometaphyseal dysplasia, algerian typeEnrichmentCOL2A12.23
197Alport syndrome 1, x-linkedEnrichmentCOL4A52.23
198Deafness, autosomal recessive 53EnrichmentCOL11A22.23
199Osteoarthritis with mild chondrodysplasiaEnrichmentCOL2A12.23
200Avascular necrosis of femoral head, primary, 1EnrichmentCOL2A12.23
201Czech dysplasiaEnrichmentCOL2A12.23
202Marshall syndromeEnrichmentCOL11A12.23
203Kniest dysplasiaEnrichmentCOL2A12.23
204Basal ganglia calcification, idiopathic, 5EnrichmentPDGFB2.23
205Platyspondylic lethal skeletal dysplasia, torrance typeEnrichmentCOL2A12.23
206Amyloidosis, hereditary systemic 1EnrichmentTTR2.23
207Fibrochondrogenesis 1EnrichmentCOL11A12.23
208Spondyloepiphyseal dysplasia, stanescu typeEnrichmentCOL2A12.23
209Achondrogenesis, type iiEnrichmentCOL2A12.23
210Deafness, x-linked 6EnrichmentCOL4A62.23
211Spondyloperipheral dysplasiaEnrichmentCOL2A12.23
212PorencephalyEnrichmentCOL4A12.23
213Spondylometaepiphyseal dysplasia, short limb-hand typeEnrichmentDDR22.23
214Deafness, autosomal dominant 37EnrichmentCOL11A12.23
215Deafness, autosomal dominant 13EnrichmentCOL11A22.23
216Stickler syndrome, type i, nonsyndromic ocularEnrichmentCOL2A12.23
217Fibrochondrogenesis 2EnrichmentCOL11A22.23
218Warburg-cinotti syndromeEnrichmentDDR22.23
219Vitreoretinopathy with phalangeal epiphyseal dysplasiaEnrichmentCOL2A12.23
220AmyloidosisEnrichmentTTR2.23
221Col4a1-related disordersEnrichmentCOL4A12.23
222Autosomal dominant rhegmatogenous retinal detachmentEnrichmentCOL2A12.23
223Col4a1 or col4a2-related cerebral small vessel diseaseEnrichmentCOL4A12.23
224Multiple epiphyseal dysplasia with myopia and deafnessEnrichmentCOL2A12.23
225HypochondrogenesisEnrichmentCOL2A12.23
226X-linked alport syndromeEnrichmentCOL4A52.23
227Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndromeEnrichmentCOL11A12.23
228DysspondyloenchondromatosisEnrichmentCOL2A12.23
229Cystic lymphangiomaEnrichmentCOL11A22.23
230Hereditary amyloidosisEnrichmentTTR2.23
231Attrv30m amyloidosisEnrichmentTTR2.23
232Type 2 collagen-related bone disorderEnrichmentCOL2A12.23
233Attrv122i amyloidosisEnrichmentTTR2.23
234Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentITGB32.22
235Bleeding disorder, platelet-type, 16EnrichmentITGB32.22
236Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasiaEnrichmentCASK2.22
237Glomerulopathy with fibronectin deposits 2EnrichmentFN12.22
238Caffey diseaseEnrichmentCOL1A12.22
239Epidermolysis bullosa, junctional 6, with pyloric atresiaEnrichmentITGA62.22
240Syndromic x-linked intellectual disability najm typeEnrichmentCASK2.22
241Cerebellar diseaseEnrichmentCASK2.22
242Bleeding disorder, platelet-type, 24EnrichmentITGB32.22
243MicrocephalyEnrichmentACTB, ACTG1, CASK, COL4A12.22
244Focal segmental glomerulosclerosisEnrichmentCOL4A4, COL4A52.22
245Visceral myopathy 1EnrichmentACTG22.16
246Congenital myopathy 3 with rigid spineEnrichmentACTA12.16
247Myasthenic syndrome, congenital, 8EnrichmentAGRN2.16
248Muscular dystrophy, limb-girdle, autosomal recessive 23EnrichmentLAMA22.16
249Coloboma of choroid and retinaEnrichmentACTG12.16
250Severe congenital nemaline myopathyEnrichmentACTA12.16
251PhenylketonuriaEnrichmentCOL1A12.10
252Epidermolysis bullosa simplex 5c, with pyloric atresiaEnrichmentITGB42.10
253Poretti-boltshauser syndromeEnrichmentLAMA12.10
254Moyamoya disease 1EnrichmentACTA22.08
255Intestinal pseudo-obstructionEnrichmentACTG22.08
256Typical nemaline myopathyEnrichmentACTA12.08
257Meniere diseaseEnrichmentDTNA2.01
258Childhood-onset nemaline myopathyEnrichmentACTA12.01
259Epidermolysis bullosa simplex 1c, localizedEnrichmentITGB42.00
260Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentCASK2.00
261Glanzmann thrombasthenia 2EnrichmentITGB32.00
262Aplasia cutis congenitaEnrichmentITGB42.00
263Familial cerebral saccular aneurysmEnrichmentCOL3A12.00
264Congenital muscular dystrophyEnrichmentLAMA21.95
265Rare genetic deafnessEnrichmentACTG1, COL11A2, COL4A51.95
266Metaphyseal chondrodysplasia, schmid typeEnrichmentCOL10A11.93
267Legg-calve-perthes diseaseEnrichmentCOL2A11.93
268Mononeuropathy of the median nerve, mildEnrichmentTTR1.93
269Specific language impairment 5EnrichmentCOL4A41.93
270Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1EnrichmentCOL4A21.93
271GlomerulonephritisEnrichmentCOL4A41.93
272Familial avascular necrosis of the femoral headEnrichmentCOL2A11.93
273Inflammatory bowel disease 25, autosomal recessiveEnrichmentTGFB11.92
274Inguinal herniaEnrichmentCOL5A11.92
275Pain disorderEnrichmentCOL5A11.92
276Il10-related early-onset inflammatory bowel diseaseEnrichmentTGFB11.92
277Glanzmann thrombasthenia 1EnrichmentITGB31.86
278Epidermolysis bullosa simplexEnrichmentITGB41.86
279Cat eye syndromeEnrichmentACTG11.86
280Nemaline myopathyEnrichmentACTA11.86
281Pectus excavatumEnrichmentDMD1.82
282Atrial heart septal defectEnrichmentDMD1.82
283Interatrial communicationEnrichmentDMD1.82
284Gastroesophageal refluxEnrichmentCOL5A11.80
285Spastic paraplegia 4, autosomal dominantEnrichmentCOL3A11.80
286Orthostatic intoleranceEnrichmentCOL5A11.80
287Dystonia 11, myoclonicEnrichmentSGCE1.80
288Postsynaptic congenital myasthenic syndromesEnrichmentAGRN1.78
289CakutEnrichmentACTG1, COL4A11.77
290Genetic steroid-resistant nephrotic syndromeEnrichmentCOL4A3, LAMA51.77
291Mccune-albright syndromeEnrichmentCOL2A11.75
292Retinal arteries, tortuosity ofEnrichmentCOL4A11.75
293Spondyloepiphyseal dysplasia congenitaEnrichmentCOL2A11.75
294MegalocorneaEnrichmentCOL11A11.75
295Hypophosphatasia, infantileEnrichmentCOL11A21.75
296Brain small vessel disease 2EnrichmentCOL4A21.75
297Microangiopathy and leukoencephalopathy, pontine, autosomal dominantEnrichmentCOL4A11.75
298Pilarowski-bjornsson syndromeEnrichmentCOL4A31.75
299Alport syndrome 3b, autosomal recessiveEnrichmentCOL4A31.75
300Angiopathy, hereditary, with nephropathy, aneurysms, and muscle crampsEnrichmentCOL4A11.75
301Hematuria, benign familial, 2EnrichmentCOL4A31.75
302Multiple epiphyseal dysplasiaEnrichmentCOL2A11.75
303Familial thoracic aortic aneurysm and dissectionEnrichmentCOL3A11.75
304Chromosome 1p36 deletion syndromeEnrichmentHSPG21.74
305Congenital hydrocephalusEnrichmentSGCD1.73
306Non-syndromic x-linked intellectual disabilityEnrichmentCASK, DMD1.72
307Lung cancer susceptibility 3EnrichmentACTA21.71
308Congenital myasthenic syndromeEnrichmentAGRN1.71
309Congenital myopathy 4a, autosomal dominantEnrichmentACTA11.68
310Cerebral palsyEnrichmentCOL4A1, COL4A21.66
311SchizencephalyEnrichmentCOL4A11.63
312Rare x-linked non-syndromic sensorineural deafness type dfnEnrichmentCOL4A61.63
313Cutis laxaEnrichmentCOL5A11.63
314Charcot-marie-tooth diseaseEnrichmentLAMA2, TTR1.61
315Beckwith-wiedemann syndromeEnrichmentDMD1.60
316Nonsyndromic hearing lossEnrichmentACTG1, COL11A21.60
317Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactylyEnrichmentCOL5A11.59
318Neural tube defectsEnrichmentITGB11.59
319ClubfootEnrichmentCOL5A11.59
320Amelogenesis imperfecta, type ieEnrichmentLAMB31.58
321Congenital myopathyEnrichmentACTA11.58
322Aortic aneurysm, familial thoracic 1EnrichmentCOL3A11.56
323CataractEnrichmentCOL5A11.56
324Movement diseaseEnrichmentSGCE1.54
325LissencephalyEnrichmentACTG11.54
326Centronuclear myopathyEnrichmentACTA11.54
327Retinal detachmentEnrichmentCOL2A11.54
328Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentCASK1.50
329Isolated congenital microcephalyEnrichmentCASK1.50
330Muscular dystrophy, limb-girdle, autosomal recessive 2EnrichmentSGCB1.50
331Amelogenesis imperfectaEnrichmentLAMB31.47
332Developmental dysplasia of the hip 1EnrichmentCOL2A11.46
333Anterior segment dysgenesis 5EnrichmentCOL4A11.46
334Body mass index quantitative trait locus 11EnrichmentNRXN1, SDC31.46
335Early infantile developmental and epileptic encephalopathyEnrichmentCASK1.45
336Hydrops fetalis, nonimmuneEnrichmentACTA11.45
337HypertelorismEnrichmentCOL11A1, COL1A11.42
338Intervertebral disc diseaseEnrichmentCOL11A11.39
339Multiple enchondromatosis, maffucci typeEnrichmentCOL2A11.39
340Long qt syndrome 1EnrichmentSNTA11.38
341Long qt syndromeEnrichmentSNTA11.37
342Non-immune hydrops fetalisEnrichmentACTA11.37
343Myocardial infarctionEnrichmentITGB31.37
344Lung cancerEnrichmentACTA21.36
345Basal ganglia calcification, idiopathic, 1EnrichmentPDGFB1.34
346Patent foramen ovaleEnrichmentACTC11.33
347Fanconi anemia, complementation group aEnrichmentDMD1.32
348Non-syndromic genetic deafnessEnrichmentACTG11.31
349Fetal akinesia deformation sequence 1EnrichmentACTA11.30
350Severe covid-19EnrichmentITGAV1.25
351Marfan syndromeEnrichmentCOL2A11.24
352Peters-plus syndromeEnrichmentCOL4A11.24
353Cystic fibrosisEnrichmentTGFB11.21
354Meningioma, familialEnrichmentPDGFB1.20
355DystoniaEnrichmentCASK1.17
356MeningiomaEnrichmentPDGFB1.16
357Isolated macular dystrophyEnrichmentCOL4A51.10
358Corpus callosum, agenesis ofEnrichmentCOL4A11.07
359Anterior segment dysgenesisEnrichmentCOL4A11.07
360Atypical hemolytic-uremic syndromeEnrichmentCOL4A51.07
361Isolated corpus callosum agenesisEnrichmentCOL4A11.07
362Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCOL4A11.07
363Cleft palate, isolatedEnrichmentCOL11A11.02
364Polycystic kidney diseaseEnrichmentCOL4A41.00
365Hypertrophic cardiomyopathyEnrichmentACTC10.97
366Primary ovarian insufficiencyEnrichmentTHBS10.95
367Colorectal cancerEnrichmentDMD0.94
368Ear malformationEnrichmentCOL11A20.88
369ScoliosisEnrichmentCOL2A10.88
370Autism spectrum disorderEnrichmentNRXN10.85
371Stargardt disease 1EnrichmentCOL2A10.79
372Congenital nervous system abnormalityEnrichmentCASK0.72
373Nervous system diseaseEnrichmentCASK0.72
374Complex neurodevelopmental disorderEnrichmentTRAPPC40.66
375Hereditary retinal dystrophyEnrichmentCOL11A2, COL2A1, LAMA10.61
376Fundus dystrophyEnrichmentCOL11A2, COL2A1, LAMA10.61
377Sensorineural hearing lossEnrichmentCOL11A20.61
378Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentCOL11A20.39

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