Signaling by PDGF

No Pathway Network information available for Signaling by PDGF

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

Disorders associated with Signaling by PDGF SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Noonan syndrome and noonan-related syndromeEnrichmentHRAS, KRAS, NRAS, PTPN11, SOS19.96
2Nevus, epidermalEnrichmentHRAS, KRAS, NRAS, PIK3CA9.22
3Noonan syndrome 3EnrichmentHRAS, KRAS, PTPN11, SOS19.22
4Noonan syndrome 1EnrichmentHRAS, KRAS, NRAS, PTPN11, SOS18.99
5RasopathyEnrichmentHRAS, KRAS, NRAS, PTPN11, SOS18.71
6Lung non-small cell carcinomaEnrichmentHRAS, KRAS, NRAS, PIK3CA8.26
7Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS7.45
8Stickler syndromeEnrichmentCOL2A1, COL9A1, COL9A2, COL9A37.21
9Multiple epiphyseal dysplasia due to collagen 9 anomalyEnrichmentCOL9A1, COL9A2, COL9A37.13
10Collagen vi-related dystrophiesEnrichmentCOL6A1, COL6A2, COL6A37.13
11Intermediate collagen vi-related muscular dystrophyEnrichmentCOL6A1, COL6A2, COL6A37.13
12Digenic alport syndromeEnrichmentCOL4A3, COL4A4, COL4A57.13
13Autosomal recessive stickler syndromeEnrichmentCOL9A1, COL9A2, COL9A36.53
14Bethlem muscular dystrophyEnrichmentCOL6A1, COL6A2, COL6A36.53
15Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, PIK3CA, RASA16.51
16Arteriovenous malformationEnrichmentHRAS, PIK3CA, RASA16.14
17Alport syndrome 3a, autosomal dominantEnrichmentCOL4A3, COL4A4, COL4A56.13
18Ullrich congenital muscular dystrophy 1aEnrichmentCOL6A1, COL6A2, COL6A36.13
19Autosomal dominant alport syndromeEnrichmentCOL4A3, COL4A4, COL4A56.13
20Alport syndromeEnrichmentCOL4A3, COL4A4, COL4A56.13
21Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, PIK3CA, RASA15.98
22Ehlers-danlos syndromeEnrichmentCOL3A1, COL5A1, COL5A2, THBS25.95
23Juvenile myelomonocytic leukemiaEnrichmentKRAS, NRAS, PTPN115.72
24Bethlem myopathy 1aEnrichmentCOL6A1, COL6A2, COL6A35.59
25Intervertebral disc diseaseEnrichmentCOL9A2, COL9A3, THBS25.59
26Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS5.36
27Connective tissue diseaseEnrichmentCOL2A1, COL5A1, COL9A1, COL9A35.00
28Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R14.88
29Large congenital melanocytic nevusEnrichmentHRAS, NRAS4.88
30Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3CA, PIK3R24.58
31Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS4.58
32Bladder cancerEnrichmentHRAS, KRAS, PIK3CA4.51
33Differentiated thyroid carcinomaEnrichmentHRAS, KRAS, NRAS4.51
34Kidney diseaseEnrichmentCOL4A3, COL4A4, COL4A54.49
35Colorectal cancerEnrichmentNRAS, PIK3CA, PIK3R1, SRC4.48
36Non-immune hydrops fetalisEnrichmentHRAS, KRAS, PTPN114.42
37Capillary malformations, congenitalEnrichmentPIK3CA, RASA14.36
38Primary hypereosinophilic syndromeEnrichmentPDGFRA, PDGFRB4.36
39Hematuria, benign familial, 1EnrichmentCOL4A3, COL4A44.27
40Ehlers-danlos syndrome, classic type, 2EnrichmentCOL5A1, COL5A24.27
41Klippel-trenaunay-weber syndromeEnrichmentPIK3CA, RASA14.18
42Breast adenocarcinomaEnrichmentKRAS, PIK3CA4.18
43Lung squamous cell carcinomaEnrichmentKRAS, PIK3CA4.18
44Thyroid cancer, nonmedullary, 2EnrichmentHRAS, NRAS4.04
45Leukemia, chronic myeloidEnrichmentKRAS, NRAS4.04
46Gallbladder cancerEnrichmentKRAS, PIK3CA4.04
47Follicular thyroid carcinomaEnrichmentHRAS, NRAS4.04
48Brain small vessel disease 1 with or without ocular anomaliesEnrichmentCOL4A1, COL4A23.97
49Alport syndrome 2, autosomal recessiveEnrichmentCOL4A3, COL4A43.97
50Autosomal recessive alport syndromeEnrichmentCOL4A3, COL4A43.97
51Melanocytic nevus syndrome, congenitalEnrichmentHRAS, NRAS3.91
52Basal ganglia calcification, idiopathic, 1EnrichmentPDGFB, PDGFRB3.91
53Retinal detachmentEnrichmentCOL2A1, COL9A33.75
54Familial porencephalyEnrichmentCOL4A1, COL4A23.75
55Ehlers-danlos syndrome, classic type, 1EnrichmentCOL5A1, COL5A23.57
56Hemorrhage, intracerebralEnrichmentCOL4A1, COL4A23.57
57KeratoconusEnrichmentCOL4A1, COL5A23.57
58Classic ehlers-danlos syndromeEnrichmentCOL5A1, COL5A23.57
59MeningiomaEnrichmentPDGFB, PIK3CA3.54
60Lip and oral cavity carcinomaEnrichmentHRAS, PIK3CA3.54
61Acute promyelocytic leukemiaEnrichmentSTAT3, STAT5B3.47
62Lynch syndromeEnrichmentKRAS, PIK3CA3.34
63Cerebral palsyEnrichmentCOL4A1, COL4A2, PDGFRB3.22
64MyopathyEnrichmentCOL6A1, COL6A2, COL6A33.18
65Nephrotic syndromeEnrichmentCOL4A3, COL4A4, COL4A53.09
66Familial thoracic aortic aneurysm and aortic dissectionEnrichmentCOL3A1, COL5A1, COL5A23.06
67Ovarian cancerEnrichmentKRAS, PDGFRA, PIK3CA2.90
68Chronic kidney diseaseEnrichmentCOL4A4, COL4A52.87
69Hydrops fetalis, nonimmuneEnrichmentHRAS, PTPN112.86
70MyopiaEnrichmentCOL2A1, COL4A42.74
71HypertensionEnrichmentCOL4A4, COL4A52.68
72Lung cancerEnrichmentKRAS, PIK3CA2.68
73MacrodactylyEnrichmentPIK3CA2.67
74MetachondromatosisEnrichmentPTPN112.67
75Cystic angiomatosis of bone, diffuseEnrichmentRASA12.67
76Oculoectodermal syndromeEnrichmentKRAS2.67
77Premature aging syndrome, penttinen typeEnrichmentPDGFRB2.67
78Noonan syndrome 4EnrichmentSOS12.67
79Hypereosinophilic syndrome, idiopathicEnrichmentPDGFRA2.67
80Megalencephaly, autosomal dominantEnrichmentPIK3CA2.67
81Basal ganglia calcification, idiopathic, 5EnrichmentPDGFB2.67
82Leopard syndrome 1EnrichmentPTPN112.67
83Cowden syndrome 5EnrichmentPIK3CA2.67
84Myofibromatosis, infantile, 1EnrichmentPDGFRB2.67
85Melanosis, neurocutaneousEnrichmentNRAS2.67
86Noonan syndrome 6EnrichmentNRAS2.67
87Gist-plus syndromeEnrichmentPDGFRA2.67
88Cerebral cavernous malformations 4EnrichmentPIK3CA2.67
89Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominantEnrichmentSTAT5B2.67
90Hyper-ige syndrome 6, autosomal dominant, with recurrent infectionsEnrichmentSTAT62.67
91Short syndromeEnrichmentPIK3R12.67
92Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG12.67
93Myeloid and lymphoid neoplasms associated with pdgfra rearrangementEnrichmentPDGFRA2.67
94T-cell large granular lymphocyte leukemiaEnrichmentSTAT32.67
95Cardiofaciocutaneous syndrome 2EnrichmentKRAS2.67
96Hemifacial myohyperplasiaEnrichmentPIK3CA2.67
97Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.67
98Immunodeficiency 31aEnrichmentSTAT12.67
99Basal ganglia calcification, idiopathic, 4EnrichmentPDGFRB2.67
100Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.67
101Myeloid and lymphoid neoplasms associated with pdgfrb rearrangementEnrichmentPDGFRB2.67
102Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.67
103Immunodeficiency 31bEnrichmentSTAT12.67
104Kosaki overgrowth syndromeEnrichmentPDGFRB2.67
105Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT32.67
106Thrombocytopenia 6EnrichmentSRC2.67
107Ocular pterygium-digital keloid dysplasia syndromeEnrichmentPDGFRB2.67
108Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.67
109HypospadiasEnrichmentPIK3CA2.67
110Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT32.67
111Congenital pulmonary airway malformationEnrichmentKRAS2.67
112Rare venous malformationEnrichmentPIK3CA2.67
113Gorham's diseaseEnrichmentRASA12.67
114Diaphragmatic eventrationEnrichmentPIK3CA2.67
115Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.67
116Rare combined vascular malformationEnrichmentPIK3CA2.67
117Cavernous lymphangiomaEnrichmentPIK3CA2.67
118Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.67
119Phakomatosis pigmentokeratoticaEnrichmentHRAS2.67
120Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.67
121Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT32.67
122Eccrine angiomatous hamartomaEnrichmentPIK3CA2.67
123Macrodactyly of toeEnrichmentPIK3CA2.67
124Neurocutaneous melanocytosisEnrichmentNRAS2.67
125Malignant astrocytomaEnrichmentPTPN112.67
126Focal segmental glomerulosclerosisEnrichmentCOL4A4, COL4A52.49
127Leukemia, acute myeloidEnrichmentKRAS, NRAS2.49
128Gastric cancerEnrichmentKRAS, PIK3CA2.42
129Hereditary breast carcinomaEnrichmentKRAS, PIK3CA2.40
130Myeloproliferative disorder, chronic, with eosinophiliaEnrichmentPDGFRB2.37
131Fibromatosis, gingival, 1EnrichmentSOS12.37
132Costello syndromeEnrichmentHRAS2.37
133Hemangiopericytoma, malignantEnrichmentSTAT62.37
134Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessiveEnrichmentSTAT5B2.37
135Dermatofibrosarcoma protuberansEnrichmentPDGFB2.37
136Pulmonic stenosisEnrichmentSOS12.37
137Keratosis, seborrheicEnrichmentPIK3CA2.37
138Encephalocraniocutaneous lipomatosisEnrichmentKRAS2.37
139Noonan syndrome 8EnrichmentPIK3CA2.37
140Immunodeficiency 31cEnrichmentSTAT12.37
141Werner syndromeEnrichmentPTPN112.37
142Infantile myofibromatosisEnrichmentPDGFRB2.37
143Rosette-forming glioneuronal tumorEnrichmentPIK3CA2.37
144Chronic eosinophilic leukemiaEnrichmentPDGFRA2.37
145B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormalityEnrichmentPDGFRA2.37
146Laron syndrome with immunodeficiencyEnrichmentSTAT5B2.37
147Wooly hair nevusEnrichmentHRAS2.37
148Stickler syndrome, type iEnrichmentCOL2A12.37
149Epiphyseal dysplasia, multiple, with myopia and conductive deafnessEnrichmentCOL2A12.37
150Spondylometaphyseal dysplasia, algerian typeEnrichmentCOL2A12.37
151Alport syndrome 1, x-linkedEnrichmentCOL4A52.37
152Osteoarthritis with mild chondrodysplasiaEnrichmentCOL2A12.37
153Avascular necrosis of femoral head, primary, 1EnrichmentCOL2A12.37
154Czech dysplasiaEnrichmentCOL2A12.37
155Kniest dysplasiaEnrichmentCOL2A12.37
156Platyspondylic lethal skeletal dysplasia, torrance typeEnrichmentCOL2A12.37
157Spondyloepiphyseal dysplasia, stanescu typeEnrichmentCOL2A12.37
158Acrogeria, gottron typeEnrichmentCOL3A12.37
159Epiphyseal dysplasia, multiple, 6EnrichmentCOL9A12.37
160Achondrogenesis, type iiEnrichmentCOL2A12.37
161Angioedema, hereditary, 4EnrichmentPLG2.37
162Epiphyseal dysplasia, multiple, 2EnrichmentCOL9A22.37
163Ullrich congenital muscular dystrophy 1bEnrichmentCOL6A22.37
164Spondyloperipheral dysplasiaEnrichmentCOL2A12.37
165Myosclerosis, autosomal recessiveEnrichmentCOL6A22.37
166PorencephalyEnrichmentCOL4A12.37
167Ullrich congenital muscular dystrophy 1cEnrichmentCOL6A32.37
168Epiphyseal dysplasia, multiple, 3EnrichmentCOL9A32.37
169Stickler syndrome, type i, nonsyndromic ocularEnrichmentCOL2A12.37
170Stickler syndrome, type ivEnrichmentCOL9A12.37
171Dystonia 27EnrichmentCOL6A32.37
172Stickler syndrome, type vEnrichmentCOL9A22.37
173Qualitative or quantitative defects of collagen 6EnrichmentCOL6A22.37
174Vitreoretinopathy with phalangeal epiphyseal dysplasiaEnrichmentCOL2A12.37
175Bethlem myopathy 1bEnrichmentCOL6A22.37
176Col4a1-related disordersEnrichmentCOL4A12.37
177Bethlem myopathy 1cEnrichmentCOL6A32.37
178Retinal lattice degenerationEnrichmentCOL9A32.37
179Autosomal dominant rhegmatogenous retinal detachmentEnrichmentCOL2A12.37
180Col4a1 or col4a2-related cerebral small vessel diseaseEnrichmentCOL4A12.37
181Multiple epiphyseal dysplasia with myopia and deafnessEnrichmentCOL2A12.37
182HypochondrogenesisEnrichmentCOL2A12.37
183X-linked alport syndromeEnrichmentCOL4A52.37
184PneumothoraxEnrichmentCOL5A12.37
185DysspondyloenchondromatosisEnrichmentCOL2A12.37
186Abdominal aortic aneurysmEnrichmentCOL3A12.37
187Lethal hydranencephaly-diaphragmatic hernia syndromeEnrichmentPLAT2.37
188Type 2 collagen-related bone disorderEnrichmentCOL2A12.37
189ScoliosisEnrichmentCOL2A1, PTPN112.33
190ThrombocytopeniaEnrichmentPTPN11, SRC2.33
191Hereditary breast ovarian cancer syndromeEnrichmentBCAR1, KRAS2.21
192Myeloma, multipleEnrichmentKRAS, PIK3R22.20
193Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentSTAT32.19
194Pompe disease, infantile-onsetEnrichmentPIK3CA2.19
195Nuchal bleb, familialEnrichmentSOS12.19
196Langerhans cell histiocytosisEnrichmentNRAS2.19
197Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R12.19
198Breast implant-associated anaplastic large cell lymphomaEnrichmentSTAT32.19
199Hyper ige syndromeEnrichmentSTAT32.19
200Wieacker-wolff syndromeEnrichmentRASA12.19
201Immunodeficiency 14EnrichmentPIK3R12.19
202SpermatocytomaEnrichmentHRAS2.19
203Tricuspid valve insufficiencyEnrichmentPTPN112.19
204KeratoacanthomaEnrichmentPIK3CA2.19
205Cardiofaciocutaneous syndrome 1EnrichmentKRAS2.07
206Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS2.07
207Chromosome 22q11.2 deletion syndrome, distalEnrichmentCRKL2.07
208Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentPIK3R22.07
209Cardiofaciocutaneous syndromeEnrichmentKRAS2.07
210Lung sarcomatoid carcinomaEnrichmentKRAS2.07
211Cerebrovascular diseaseEnrichmentPIK3CA2.07
212Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentPTPN112.07
213Noonan syndrome with multiple lentiginesEnrichmentPTPN112.07
214Pilocytic astrocytomaEnrichmentKRAS2.07
215Epidermolytic nevusEnrichmentHRAS2.07
216Familial cerebral cavernous malformationsEnrichmentPIK3CA2.07
217Gingival fibromatosisEnrichmentSOS12.07
218Ehlers-danlos syndrome, vascular typeEnrichmentCOL3A12.07
219Ehlers-danlos syndrome, hypermobility typeEnrichmentCOL3A12.07
220Spondyloepimetaphyseal dysplasia, strudwick typeEnrichmentCOL2A12.07
221Spondylometaphyseal dysplasia, corner fracture typeEnrichmentCOL2A12.07
222Plasminogen deficiency, type iEnrichmentPLG2.07
223Otospondylomegaepiphyseal dysplasia, autosomal recessiveEnrichmentCOL2A12.07
224Legg-calve-perthes diseaseEnrichmentCOL2A12.07
225Specific language impairment 5EnrichmentCOL4A42.07
226Otospondylomegaepiphyseal dysplasia, autosomal dominantEnrichmentCOL2A12.07
227Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1EnrichmentCOL4A22.07
228Stickler syndrome, type viEnrichmentCOL9A32.07
229Fibromuscular dysplasia, multifocalEnrichmentCOL5A12.07
230Polymicrogyria with or without vascular-type ehlers-danlos syndromeEnrichmentCOL3A12.07
231Aortic dissectionEnrichmentCOL3A12.07
232GlomerulonephritisEnrichmentCOL4A42.07
233Hereditary angioedemaEnrichmentPLG2.07
234Familial avascular necrosis of the femoral headEnrichmentCOL2A12.07
235X-linked diffuse leiomyomatosis-alport syndromeEnrichmentCOL4A52.07
236LymphomaEnrichmentPTPN111.97
237HemimegalencephalyEnrichmentPIK3CA1.97
238Breast cancerEnrichmentKRAS, PIK3CA1.95
239Cowden syndrome 1EnrichmentPIK3CA1.89
240Telangiectasia, hereditary hemorrhagic, type 1EnrichmentRASA11.89
241Hemihyperplasia, isolatedEnrichmentPIK3CA1.89
242Hemangioma, capillary infantileEnrichmentRASA11.89
243Basal cell carcinoma 1EnrichmentRASA11.89
244Patent ductus arteriosusEnrichmentPTPN111.89
245Chronic mucocutaneous candidiasisEnrichmentSTAT11.89
246Mccune-albright syndromeEnrichmentCOL2A11.89
247Retinal arteries, tortuosity ofEnrichmentCOL4A11.89
248Angioedema, hereditary, 1EnrichmentPLG1.89
249Spondyloepiphyseal dysplasia congenitaEnrichmentCOL2A11.89
250TelecanthusEnrichmentCOL5A21.89
251Brain small vessel disease 2EnrichmentCOL4A21.89
252Microangiopathy and leukoencephalopathy, pontine, autosomal dominantEnrichmentCOL4A11.89
253Pilarowski-bjornsson syndromeEnrichmentCOL4A31.89
254Alport syndrome 3b, autosomal recessiveEnrichmentCOL4A31.89
255Ehlers-danlos syndrome, classic-like, 3EnrichmentTHBS21.89
256Angiopathy, hereditary, with nephropathy, aneurysms, and muscle crampsEnrichmentCOL4A11.89
257Hematuria, benign familial, 2EnrichmentCOL4A31.89
258Multiple epiphyseal dysplasiaEnrichmentCOL2A11.89
259MyelofibrosisEnrichmentSRC1.83
260Gastrointestinal stromal tumorEnrichmentPDGFRA1.83
261Hereditary hemorrhagic telangiectasiaEnrichmentRASA11.83
262Pilomyxoid astrocytomaEnrichmentKRAS1.83
263Overgrowth syndromeEnrichmentPIK3R11.83
264Permanent neonatal diabetes mellitusEnrichmentSTAT31.77
265SchizencephalyEnrichmentCOL4A11.77
266Pediatric systemic lupus erythematosusEnrichmentSPP11.77
267Adult hepatocellular carcinomaEnrichmentPIK3CA1.72
268Cowden syndromeEnrichmentPIK3CA1.72
269Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R11.67
270Familial cerebral saccular aneurysmEnrichmentCOL3A11.67
271Pectus excavatumEnrichmentPTPN111.63
272Meningioma, familialEnrichmentPDGFB1.63
273Specific learning disabilityEnrichmentPTPN111.63
274EpicanthusEnrichmentPTPN111.60
275Congenital long qt syndromeEnrichmentPTPN111.60
276Developmental dysplasia of the hip 1EnrichmentCOL2A11.60
277Anterior segment dysgenesis 5EnrichmentCOL4A11.60
278Inguinal herniaEnrichmentCOL5A11.60
279Pain disorderEnrichmentCOL5A11.60
280Aortic valve disease 1EnrichmentSOS11.56
281Protein-deficiency anemiaEnrichmentNRAS1.56
282Nk-cell enteropathyEnrichmentPIK3CB1.56
283OsteoporosisEnrichmentSRC1.53
284Lung cancer susceptibility 3EnrichmentKRAS1.53
285Cleft lip/palateEnrichmentPDGFRA1.53
28646,xy partial gonadal dysgenesisEnrichmentSOS11.53
287Multiple enchondromatosis, maffucci typeEnrichmentCOL2A11.53
288HydrocephalusEnrichmentPDGFRB1.50
289Inherited cancer-predisposing syndromeEnrichmentPDGFRA, PTPN111.49
290RhabdomyosarcomaEnrichmentHRAS1.47
291Gastroesophageal refluxEnrichmentCOL5A11.47
292Spastic paraplegia 4, autosomal dominantEnrichmentCOL3A11.47
293Orthostatic intoleranceEnrichmentCOL5A11.47
294Dandy-walker syndromeEnrichmentPDGFRB1.45
295Patent foramen ovaleEnrichmentPTPN111.42
296Familial thoracic aortic aneurysm and dissectionEnrichmentCOL3A11.42
297Arteriovenous malformations of the brainEnrichmentKRAS1.40
298Diffuse large b-cell lymphomaEnrichmentSTAT31.40
299Marfan syndromeEnrichmentCOL2A11.38
300Peters-plus syndromeEnrichmentCOL4A11.38
301Endometrial cancerEnrichmentPIK3CA1.36
302Hepatocellular carcinomaEnrichmentPIK3CA1.34
303Cutis laxaEnrichmentCOL5A11.30
304Pancreatic cancerEnrichmentKRAS1.28
305Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactylyEnrichmentCOL5A11.27
306ClubfootEnrichmentCOL5A11.27
307StrabismusEnrichmentPTPN111.25
308Aortic aneurysm, familial thoracic 1EnrichmentCOL3A11.23
309Walker-warburg syndromeEnrichmentCOL4A11.23
310CataractEnrichmentCOL5A11.23
311Isolated macular dystrophyEnrichmentCOL4A51.23
312Prostate cancerEnrichmentPIK3CA1.22
313Long qt syndrome 1EnrichmentPTPN111.21
314Corpus callosum, agenesis ofEnrichmentCOL4A11.21
315Anterior segment dysgenesisEnrichmentCOL4A11.21
316Atypical hemolytic-uremic syndromeEnrichmentCOL4A51.21
317Isolated corpus callosum agenesisEnrichmentCOL4A11.21
318Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCOL4A11.21
319Beckwith-wiedemann syndromeEnrichmentCOL6A11.13
320Heart, malformation ofEnrichmentCOL2A11.13
321Polycystic kidney diseaseEnrichmentCOL4A41.13
322Hypertrophic cardiomyopathyEnrichmentPTPN111.06
323MicrocephalyEnrichmentCOL4A1, PTPN111.01
324Muscular dystrophyEnrichmentCOL6A21.01
325HypertelorismEnrichmentPIK3CA0.98
326Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentPTPN110.95
327Stargardt disease 1EnrichmentCOL2A10.92
328Cystic fibrosisEnrichmentPLG0.89
329CakutEnrichmentCOL4A10.87
330Genetic steroid-resistant nephrotic syndromeEnrichmentCOL4A30.87
331Systemic lupus erythematosusEnrichmentSPP10.81
332Sensorineural hearing lossEnrichmentCOL9A10.73
333Autism spectrum disorderEnrichmentPTPN110.68
334Primary ovarian insufficiencyEnrichmentTHBS10.65
335Rare genetic deafnessEnrichmentCOL4A50.54
336Hereditary retinal dystrophyEnrichmentCOL2A1, COL9A10.45
337Fundus dystrophyEnrichmentCOL2A1, COL9A10.45

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