Integrins in angiogenesis

No Pathway Network information available for Integrins in angiogenesis

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

Disorders associated with Integrins in angiogenesis SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Ehlers-danlos syndromeEnrichmentCOL1A1, COL1A2, COL3A1, COL5A1, COL5A2, TGFBR29.88
2Ehlers-danlos syndrome, classic type, 1EnrichmentCOL1A1, COL1A2, COL5A1, COL5A28.38
3Classic ehlers-danlos syndromeEnrichmentCOL1A1, COL1A2, COL5A1, COL5A28.38
4Collagen vi-related dystrophiesEnrichmentCOL6A1, COL6A2, COL6A37.15
5Intermediate collagen vi-related muscular dystrophyEnrichmentCOL6A1, COL6A2, COL6A37.15
6Bethlem muscular dystrophyEnrichmentCOL6A1, COL6A2, COL6A36.55
7Ullrich congenital muscular dystrophy 1aEnrichmentCOL6A1, COL6A2, COL6A36.16
8Familial thoracic aortic aneurysm and aortic dissectionEnrichmentCOL1A1, COL3A1, COL5A1, COL5A2, TGFBR25.98
9Bethlem myopathy 1aEnrichmentCOL6A1, COL6A2, COL6A35.61
10Connective tissue diseaseEnrichmentCOL11A1, COL2A1, COL5A1, TGFBR25.03
11Spondyloepimetaphyseal dysplasia, strudwick typeEnrichmentCOL2A1, FN14.76
12Spondylometaphyseal dysplasia, corner fracture typeEnrichmentCOL2A1, FN14.76
13Otospondylomegaepiphyseal dysplasia, autosomal recessiveEnrichmentCOL11A2, COL2A14.76
14Otospondylomegaepiphyseal dysplasia, autosomal dominantEnrichmentCOL11A2, COL2A14.76
15Ehlers-danlos syndrome, arthrochalasia type, 2EnrichmentCOL1A1, COL1A24.76
16FibrochondrogenesisEnrichmentCOL11A1, COL11A24.76
17Stickler syndrome, type iiEnrichmentCOL11A1, COL1A14.76
18Ehlers-danlos/osteogenesis imperfecta syndromeEnrichmentCOL1A1, COL1A24.76
19OsteoporosisEnrichmentCOL1A1, COL1A2, SRC4.61
20TelecanthusEnrichmentCOL11A1, COL5A24.28
21Ehlers-danlos syndrome, classic type, 2EnrichmentCOL5A1, COL5A24.28
22Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R14.28
23High bone mass osteogenesis imperfectaEnrichmentCOL1A1, COL1A24.28
24Ehlers-danlos syndrome, arthrochalasia type, 1EnrichmentCOL1A1, COL1A23.98
25Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCBL, PTPN113.98
26Osteogenesis imperfecta with normal sclerae, dominant formEnrichmentCOL1A1, COL1A23.98
27Osteogenesis imperfecta, type iEnrichmentCOL1A1, COL1A23.59
28Hemihyperplasia, isolatedEnrichmentPIK3CA, RHOA3.59
29KeratoconusEnrichmentCOL1A1, COL5A23.59
30Breast adenocarcinomaEnrichmentAKT1, PIK3CA3.59
31Nevus, epidermalEnrichmentCOL7A1, PIK3CA3.44
32Osteogenesis imperfecta, type iiEnrichmentCOL1A1, COL1A23.44
33Colorectal cancerEnrichmentAKT1, PIK3CA, PIK3R1, SRC3.32
34Adult hepatocellular carcinomaEnrichmentCASP8, PIK3CA3.21
35Cowden syndromeEnrichmentAKT1, PIK3CA3.21
36MyopathyEnrichmentCOL6A1, COL6A2, COL6A33.21
37Marfan syndromeEnrichmentCOL2A1, TGFBR23.12
38Stickler syndromeEnrichmentCOL11A1, COL2A13.12
39Primary bone dysplasiaEnrichmentCOL1A1, COL1A23.12
40OsteochondrodysplasiaEnrichmentCOL1A1, COL1A23.03
41ThrombocytopeniaEnrichmentITGB3, PTPN11, SRC2.97
42Juvenile myelomonocytic leukemiaEnrichmentCBL, PTPN112.95
43MeningiomaEnrichmentAKT1, PIK3CA2.95
44Osteogenesis imperfecta, type ivEnrichmentCOL1A1, COL1A22.88
45HypertelorismEnrichmentCOL11A1, COL1A1, PIK3CA2.87
46Osteogenesis imperfecta, type iiiEnrichmentCOL1A1, COL1A22.75
47MyopiaEnrichmentCOL11A1, COL2A12.75
48Lynch syndromeEnrichmentPIK3CA, TGFBR22.75
49Noonan syndrome and noonan-related syndromeEnrichmentCBL, PTPN112.75
50Beckwith-wiedemann syndromeEnrichmentCOL6A1, COL7A12.59
51Heart, malformation ofEnrichmentCOL11A2, COL2A12.59
52Hepatocellular carcinomaEnrichmentCASP8, PIK3CA2.42
53Breast cancerEnrichmentAKT1, CASP8, PIK3CA2.42
54Noonan syndrome 1EnrichmentCBL, PTPN112.38
55Brittle bone disorderEnrichmentCOL1A1, COL1A22.38
56Stickler syndrome, type iEnrichmentCOL2A12.38
57MacrodactylyEnrichmentPIK3CA2.38
58Proteus syndromeEnrichmentAKT12.38
59Epidermolysis bullosa dystrophica, pretibialEnrichmentCOL7A12.38
60Epidermolysis bullosa dystrophica, autosomal dominantEnrichmentCOL7A12.38
61MetachondromatosisEnrichmentPTPN112.38
62Epiphyseal dysplasia, multiple, with myopia and conductive deafnessEnrichmentCOL2A12.38
63Ehlers-danlos syndrome, cardiac valvular typeEnrichmentCOL1A22.38
64Epidermolysis bullosa dystrophica, autosomal recessiveEnrichmentCOL7A12.38
65Spondylometaphyseal dysplasia, algerian typeEnrichmentCOL2A12.38
66Deafness, autosomal recessive 53EnrichmentCOL11A22.38
67Osteoarthritis with mild chondrodysplasiaEnrichmentCOL2A12.38
68Avascular necrosis of femoral head, primary, 1EnrichmentCOL2A12.38
69Czech dysplasiaEnrichmentCOL2A12.38
70Caspase 8 deficiencyEnrichmentCASP82.38
71Nail disorder, nonsyndromic congenital, 8EnrichmentCOL7A12.38
72Marshall syndromeEnrichmentCOL11A12.38
73Megalencephaly, autosomal dominantEnrichmentPIK3CA2.38
74Kniest dysplasiaEnrichmentCOL2A12.38
75Transient bullous dermolysis of the newbornEnrichmentCOL7A12.38
76Leopard syndrome 1EnrichmentPTPN112.38
77Platyspondylic lethal skeletal dysplasia, torrance typeEnrichmentCOL2A12.38
78Epidermolysis bullosa with congenital localized absence of skin and deformity of nailsEnrichmentCOL7A12.38
79Cowden syndrome 5EnrichmentPIK3CA2.38
80Fibrochondrogenesis 1EnrichmentCOL11A12.38
81Spondyloepiphyseal dysplasia, stanescu typeEnrichmentCOL2A12.38
82Acrogeria, gottron typeEnrichmentCOL3A12.38
83Achondrogenesis, type iiEnrichmentCOL2A12.38
84Cerebral cavernous malformations 4EnrichmentPIK3CA2.38
85Ullrich congenital muscular dystrophy 1bEnrichmentCOL6A22.38
86Short syndromeEnrichmentPIK3R12.38
87Combined osteogenesis imperfecta and ehlers-danlos syndrome 2EnrichmentCOL1A22.38
88Spondyloperipheral dysplasiaEnrichmentCOL2A12.38
89Myosclerosis, autosomal recessiveEnrichmentCOL6A22.38
90Oculoskeletodental syndromeEnrichmentPIK3C2A2.38
91Ullrich congenital muscular dystrophy 1cEnrichmentCOL6A32.38
92Deafness, autosomal dominant 37EnrichmentCOL11A12.38
93Deafness, autosomal dominant 13EnrichmentCOL11A22.38
94Microvascular complications of diabetes 1EnrichmentVEGFA2.38
95Cardiomyopathy, dilated, 1wEnrichmentVCL2.38
96Hemifacial myohyperplasiaEnrichmentPIK3CA2.38
97Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.38
98Epidermolysis bullosa pruriginosaEnrichmentCOL7A12.38
99Neuroendocrine tumorEnrichmentCDKN1B2.38
100Stickler syndrome, type i, nonsyndromic ocularEnrichmentCOL2A12.38
101Colorectal cancer, hereditary nonpolyposis, type 6EnrichmentTGFBR22.38
102Cardiomyopathy, familial hypertrophic, 15EnrichmentVCL2.38
103Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.38
104Cowden syndrome 6EnrichmentAKT12.38
105Fibrochondrogenesis 2EnrichmentCOL11A22.38
106Dystonia 27EnrichmentCOL6A32.38
107Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.38
108Thyroid gland diseaseEnrichmentCOL7A12.38
109Thrombocytopenia 6EnrichmentSRC2.38
110Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA2.38
111Qualitative or quantitative defects of collagen 6EnrichmentCOL6A22.38
112Brain abnormalities, neurodegeneration, and dysosteosclerosisEnrichmentCSF1R2.38
113Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA2.38
114Spastic paraplegia 84, autosomal recessiveEnrichmentPI4KA2.38
115Vitreoretinopathy with phalangeal epiphyseal dysplasiaEnrichmentCOL2A12.38
116Recessive dystrophic epidermolysis bullosa-generalized otherEnrichmentCOL7A12.38
117Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.38
118Tufted angioma of skinEnrichmentKDR2.38
119Asphyxia neonatorumEnrichmentCOL1A12.38
120Bethlem myopathy 1bEnrichmentCOL6A22.38
121Csf1r-related disorderEnrichmentCSF1R2.38
122Deafness, autosomal dominant 87EnrichmentPI4KB2.38
123HypospadiasEnrichmentPIK3CA2.38
124Bethlem myopathy 1cEnrichmentCOL6A32.38
125Autosomal dominant rhegmatogenous retinal detachmentEnrichmentCOL2A12.38
126Rare venous malformationEnrichmentPIK3CA2.38
127Multiple epiphyseal dysplasia with myopia and deafnessEnrichmentCOL2A12.38
128Immune dysregulation, neurodevelopmental defects, and colitisEnrichmentITGAV2.38
129Diaphragmatic eventrationEnrichmentPIK3CA2.38
130HypochondrogenesisEnrichmentCOL2A12.38
131Capillary leak syndromeEnrichmentTLN12.38
132PneumothoraxEnrichmentCOL5A12.38
133Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.38
134Localized dystrophic epidermolysis bullosa, acral formEnrichmentCOL7A12.38
135Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndromeEnrichmentCOL11A12.38
136DysspondyloenchondromatosisEnrichmentCOL2A12.38
137Early-onset calcifying leukoencephalopathy-skeletal dysplasiaEnrichmentCSF1R2.38
138Cystic lymphangiomaEnrichmentCOL11A22.38
139Rare combined vascular malformationEnrichmentPIK3CA2.38
140Gastrointestinal defects and immunodeficiency syndrome 2EnrichmentPI4KA2.38
141Abdominal aortic aneurysmEnrichmentCOL3A12.38
142Cavernous lymphangiomaEnrichmentPIK3CA2.38
143Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.38
144Oculocerebrodental syndromeEnrichmentPIK3C2A2.38
145Recessive dystrophic epidermolysis bullosa inversaEnrichmentCOL7A12.38
146Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC12.38
147Type 2 collagen-related bone disorderEnrichmentCOL2A12.38
148Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.38
149Eccrine angiomatous hamartomaEnrichmentPIK3CA2.38
150Macrodactyly of toeEnrichmentPIK3CA2.38
151Generalized dominant dystrophic epidermolysis bullosaEnrichmentCOL7A12.38
152Pi4ka-related disorderEnrichmentPI4KA2.38
153Malignant astrocytomaEnrichmentPTPN112.38
154ScoliosisEnrichmentCOL2A1, PTPN112.35
155RasopathyEnrichmentCBL, PTPN112.28
156Lung cancerEnrichmentCASP8, PIK3CA2.10
157Ehlers-danlos syndrome, vascular typeEnrichmentCOL3A12.08
158Epiphyseal dysplasia, multiple, 1EnrichmentCOL1A12.08
159Ehlers-danlos syndrome, hypermobility typeEnrichmentCOL3A12.08
160Bruck syndrome 1EnrichmentCOL1A22.08
161Ovarian germ cell cancerEnrichmentCBL2.08
162Dermatofibrosarcoma protuberansEnrichmentCOL1A12.08
163Loeys-dietz syndrome 2EnrichmentTGFBR22.08
164Microvascular complications of diabetes 5EnrichmentTGFBR22.08
165Legg-calve-perthes diseaseEnrichmentCOL2A12.08
166Keratosis, seborrheicEnrichmentPIK3CA2.08
167Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalitiesEnrichmentPI4KA2.08
168Angioma, tuftedEnrichmentKDR2.08
169Noonan syndrome 8EnrichmentPIK3CA2.08
170Multiple endocrine neoplasia, type ivEnrichmentCDKN1B2.08
171Combined osteogenesis imperfecta and ehlers-danlos syndrome 1EnrichmentCOL1A12.08
172Fibromuscular dysplasia, multifocalEnrichmentCOL5A12.08
173Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC12.08
174Werner syndromeEnrichmentPTPN112.08
175Polymicrogyria with or without vascular-type ehlers-danlos syndromeEnrichmentCOL3A12.08
176Aortic dissectionEnrichmentCOL3A12.08
177Recessive dystrophic epidermolysis bullosaEnrichmentCOL7A12.08
178Rosette-forming glioneuronal tumorEnrichmentPIK3CA2.08
179Hypobetalipoproteinemia, familial, 2EnrichmentANGPTL32.08
180Familial avascular necrosis of the femoral headEnrichmentCOL2A12.08
181Developmental and epileptic encephalopathy 23EnrichmentANGPTL32.08
182Combined immunodeficiency-multiple intestinal atresiaEnrichmentPI4KA2.08
183Malignant germ cell tumor of ovaryEnrichmentCBL2.08
184Dentinogenesis imperfectaEnrichmentCOL1A22.08
185Epidermolysis bullosa dystrophicaEnrichmentCOL7A12.08
186Ovarian cancerEnrichmentAKT1, CDKN1B, PIK3CA2.06
187Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentITGB31.90
188Mccune-albright syndromeEnrichmentCOL2A11.90
189Hematuria, benign familial, 1EnrichmentCOL4A31.90
190Spondyloepiphyseal dysplasia congenitaEnrichmentCOL2A11.90
191Bleeding disorder, platelet-type, 16EnrichmentITGB31.90
192MegalocorneaEnrichmentCOL11A11.90
193Nail disorder, nonsyndromic congenital, 4EnrichmentCOL7A11.90
194Hypophosphatasia, infantileEnrichmentCOL11A21.90
195Pompe disease, infantile-onsetEnrichmentPIK3CA1.90
196Leukoencephalopathy, hereditary diffuse, with spheroids 1EnrichmentCSF1R1.90
197Glomerulopathy with fibronectin deposits 2EnrichmentFN11.90
198Heparin cofactor ii deficiencyEnrichmentPI4KA1.90
199Caffey diseaseEnrichmentCOL1A11.90
200Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.90
201Pilarowski-bjornsson syndromeEnrichmentCOL4A31.90
202Alport syndrome 3b, autosomal recessiveEnrichmentCOL4A31.90
203Loeys-dietz syndrome 1EnrichmentTGFBR21.90
204Immunodeficiency 14EnrichmentPIK3R11.90
205Hematuria, benign familial, 2EnrichmentCOL4A31.90
206Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R1.90
207Bleeding disorder, platelet-type, 24EnrichmentITGB31.90
208Tricuspid valve insufficiencyEnrichmentPTPN111.90
209Multiple epiphyseal dysplasiaEnrichmentCOL2A11.90
210KeratoacanthomaEnrichmentPIK3CA1.90
211Digenic alport syndromeEnrichmentCOL4A31.90
212Hyperpigmentation of the skinEnrichmentCOL7A11.90
213Nephrotic syndromeEnrichmentCOL4A3, FN11.85
214Hereditary breast carcinomaEnrichmentAKT1, PIK3CA1.83
215MicrocephalyEnrichmentCOL7A1, IGF1R, PTPN111.83
216Alport syndrome 2, autosomal recessiveEnrichmentCOL4A31.78
217PhenylketonuriaEnrichmentCOL1A11.78
218Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3CA1.78
219Cerebrovascular diseaseEnrichmentPIK3CA1.78
220Noonan syndrome with multiple lentiginesEnrichmentPTPN111.78
221Epidermolytic hyperkeratosisEnrichmentCOL7A11.78
222Familial cerebral cavernous malformationsEnrichmentPIK3CA1.78
223Autosomal recessive alport syndromeEnrichmentCOL4A31.78
224Pediatric systemic lupus erythematosusEnrichmentSPP11.78
225Primary hyperparathyroidismEnrichmentCDKN1B1.78
226Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentCOL11A1, COL11A21.70
227Alport syndrome 3a, autosomal dominantEnrichmentCOL4A31.68
228Capillary malformations, congenitalEnrichmentPIK3CA1.68
229Epidermolytic hyperkeratosis 1EnrichmentCOL7A11.68
230Retinal detachmentEnrichmentCOL2A11.68
231Insulin-like growth factor iEnrichmentIGF1R1.68
232Glanzmann thrombasthenia 2EnrichmentITGB31.68
233LymphomaEnrichmentPTPN111.68
234Autosomal dominant alport syndromeEnrichmentCOL4A31.68
235Myeloproliferative neoplasmEnrichmentCBL1.68
236Epidermolysis bullosaEnrichmentCOL7A11.68
237HemimegalencephalyEnrichmentPIK3CA1.68
238Alport syndromeEnrichmentCOL4A31.68
239Aggressive systemic mastocytosisEnrichmentCBL1.68
240Familial cerebral saccular aneurysmEnrichmentCOL3A11.68
241Developmental dysplasia of the hip 1EnrichmentCOL2A11.60
242Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.60
243Cowden syndrome 1EnrichmentPIK3CA1.60
244Hemangioma, capillary infantileEnrichmentKDR1.60
245Inguinal herniaEnrichmentCOL5A11.60
246Pain disorderEnrichmentCOL5A11.60
247Patent ductus arteriosusEnrichmentPTPN111.60
248Fetomaternal alloimmune thrombocytopenia 1EnrichmentITGB31.60
249Lung squamous cell carcinomaEnrichmentPIK3CA1.60
250Esophageal cancerEnrichmentTGFBR21.54
251Multiple endocrine neoplasia, type iEnrichmentCDKN1B1.54
252MyelofibrosisEnrichmentSRC1.54
253Glanzmann thrombasthenia 1EnrichmentITGB31.54
254Intervertebral disc diseaseEnrichmentCOL11A11.54
255Capillary malformation-arteriovenous malformation 1EnrichmentPIK3CA1.54
256Noonan syndrome 3EnrichmentPTPN111.54
257Multiple enchondromatosis, maffucci typeEnrichmentCOL2A11.54
258Gallbladder cancerEnrichmentPIK3CA1.54
259Overgrowth syndromeEnrichmentPIK3R11.54
260Gastroesophageal refluxEnrichmentCOL5A11.48
261Spastic paraplegia 4, autosomal dominantEnrichmentCOL3A11.48
262Orthostatic intoleranceEnrichmentCOL5A11.48
263Loeys-dietz syndromeEnrichmentTGFBR21.43
264Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC11.43
265Arteriovenous malformationEnrichmentPIK3CA1.43
266Bilateral perisylvian polymicrogyriaEnrichmentPI4KA1.43
267Familial thoracic aortic aneurysm and dissectionEnrichmentCOL3A11.43
268Myopathy, x-linked, with excessive autophagyEnrichmentPIK3CA1.38
269Autosomal dominant macrothrombocytopeniaEnrichmentITGB31.38
270Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R11.38
271Pectus excavatumEnrichmentPTPN111.34
272Frontotemporal dementia 1EnrichmentCSF1R1.34
273Lung non-small cell carcinomaEnrichmentPIK3CA1.34
274IchthyosisEnrichmentCOL7A11.34
275Specific learning disabilityEnrichmentPTPN111.34
276EpicanthusEnrichmentPTPN111.31
277Cutis laxaEnrichmentCOL5A11.31
278Lip and oral cavity carcinomaEnrichmentPIK3CA1.31
279Congenital long qt syndromeEnrichmentPTPN111.31
280Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactylyEnrichmentCOL5A11.27
281Alzheimer's diseaseEnrichmentCSF1R1.27
282ClubfootEnrichmentCOL5A11.27
283Nk-cell enteropathyEnrichmentIGF1R1.27
284Aortic aneurysm, familial thoracic 1EnrichmentCOL3A11.24
285CataractEnrichmentCOL5A11.24
286Kidney diseaseEnrichmentCOL4A31.21
287RhabdomyosarcomaEnrichmentCBL1.19
288Alzheimer disease, familial, 1EnrichmentCSF1R1.16
289Cleft palate, isolatedEnrichmentCOL11A11.16
290Patent foramen ovaleEnrichmentPTPN111.14
291Endometrial cancerEnrichmentPIK3CA1.07
292HepatoblastomaEnrichmentCOL7A11.07
293Myocardial infarctionEnrichmentITGB31.05
294Skin diseaseEnrichmentCOL7A11.05
295Ear malformationEnrichmentCOL11A21.02
296Muscular dystrophyEnrichmentCOL6A21.02
297Tetralogy of fallotEnrichmentKDR0.98
298Hydrops fetalis, nonimmuneEnrichmentPTPN110.98
299Inherited cancer-predisposing syndromeEnrichmentCDKN1B, PTPN110.97
300StrabismusEnrichmentPTPN110.97
301Bladder cancerEnrichmentPIK3CA0.94
302Prostate cancerEnrichmentPIK3CA0.94
303Severe covid-19EnrichmentITGAV0.94
304Long qt syndrome 1EnrichmentPTPN110.93
305Stargardt disease 1EnrichmentCOL2A10.93
306Non-immune hydrops fetalisEnrichmentPTPN110.91
307Genetic steroid-resistant nephrotic syndromeEnrichmentCOL4A30.87
308Systemic lupus erythematosusEnrichmentSPP10.82
309Type 2 diabetes mellitusEnrichmentIRS10.79
310Nonsyndromic hearing lossEnrichmentCOL11A20.79
311Gastric cancerEnrichmentPIK3CA0.78
312Hypertrophic cardiomyopathyEnrichmentPTPN110.78
313Sensorineural hearing lossEnrichmentCOL11A20.74
314Familial isolated dilated cardiomyopathyEnrichmentVCL0.70
315Hereditary breast ovarian cancer syndromeEnrichmentBCAR10.68
316Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentPTPN110.68
317Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentCSF1R0.66
318Primary ovarian insufficiencyEnrichmentKDR0.66
319AutismEnrichmentCOL11A10.58
320Rare genetic deafnessEnrichmentCOL11A20.55
321Dilated cardiomyopathyEnrichmentVCL0.54
322Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentCOL11A20.50
323Hereditary retinal dystrophyEnrichmentCOL11A2, COL2A10.46
324Fundus dystrophyEnrichmentCOL11A2, COL2A10.46
325Autism spectrum disorderEnrichmentPTPN110.43

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