DREAM Repression and Dynorphin Expression

Pathway network for the DREAM Repression and Dynorphin Expression SuperPath

Sources:
  • QIAGEN
  • WikiPathways
  • Reactome

Pathways in the DREAM Repression and Dynorphin Expression SuperPath

#NameSourceGenes
1DREAM Repression and Dynorphin ExpressionQIAGEN
2Calpain Protease Regulates Cellular MechanicsQIAGEN
3Caspase CascadeQIAGEN
4BMP PathwayQIAGEN
5Arrhythmogenic right ventricular cardiomyopathyWikiPathways
6nNOS Signaling in Skeletal MuscleQIAGEN
7TOB in Osteoblast SignalingQIAGEN
8Presynaptic depolarization and calcium channel openingReactome

Gene overlap in member pathways for DREAM Repression and Dynorphin Expression SuperPath

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

Disorders associated with DREAM Repression and Dynorphin Expression SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentCTNNA3, DSC2, DSG2, DSP, JUP, LMNA, PKP2, RYR210.85
2Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentCTNNA3, DSC2, DSG2, DSP, JUP, LMNA, PKP2, RYR210.85
3Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentCDH2, CTNNA3, DSC2, DSG2, DSP, JUP, LMNA, PKP2, RYR210.84
4Dilated cardiomyopathyEnrichmentACTN2, DES, DMD, DSG2, DSP, EMD, JUP, LAMA2, LMNA, SGCB, SGCD10.49
5Arrhythmogenic right ventricular cardiomyopathyEnrichmentACTN2, CTNNA3, DES, DSC2, DSG2, DSP, JUP, LMNA, PKP2, RYR210.47
6Long qt syndromeEnrichmentCACNA1C, CACNA1S, CTNNA3, DSG2, DSP, LMNA, RYR29.59
7Cardiac conduction defectEnrichmentCACNA1C, DSG2, DSP, LMNA, RYR28.49
8Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM3, RYR28.02
9Familial isolated dilated cardiomyopathyEnrichmentACTN2, DES, DMD, DSG2, DSP, LMNA, SGCD7.87
10Noonan syndrome 1EnrichmentHRAS, KRAS, MRAS, NRAS, RRAS, RRAS27.75
11Long qt syndrome 1EnrichmentCACNA1C, CALM1, CALM2, CALM3, SNTA17.22
12Arrhythmogenic right ventricular dysplasia, familial, 9EnrichmentDSG2, DSP, LMNA, PKP27.00
13Familial isolated arrhythmogenic right ventricular dysplasiaEnrichmentDSC2, DSG2, DSP, PKP27.00
14Brugada syndromeEnrichmentCACNA1C, CACNA2D1, CACNB2, LMNA, PKP26.60
15Autoimmune lymphoproliferative syndromeEnrichmentCASP10, FAS, FASLG5.99
16Lung non-small cell carcinomaEnrichmentEGFR, HRAS, KRAS, NRAS5.95
17Left ventricular noncompactionEnrichmentACTN2, DSP, LMNA, PKP2, RYR25.92
18RasopathyEnrichmentHRAS, KRAS, MRAS, NRAS, RRAS25.82
19Ventricular septal defect 1EnrichmentBMP2, BMP7, GATA45.74
20Congenital heart defects, multiple types, 4EnrichmentBMP7, GATA4, GATA65.74
21Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS5.73
22Neuromuscular diseaseEnrichmentDES, EMD, LMNA, SGCD5.63
23Patent foramen ovaleEnrichmentGATA4, GATA6, NKX2-5, TAB25.54
24Autosomal recessive limb-girdle muscular dystrophyEnrichmentSGCA, SGCB, SGCD, SGCG5.53
25Fetomaternal alloimmune thrombocytopenia 1EnrichmentITGA2, ITGA2B, ITGB35.51
26Lung cancer susceptibility 3EnrichmentACTA2, EGFR, KRAS, RB15.48
27Juvenile polyposis syndromeEnrichmentBMPR1A, SMAD45.47
28Pulmonary arterial hypertension associated with congenital heart diseaseEnrichmentBMPR2, SMAD95.47
29Brachydactyly, type a2EnrichmentBMP2, BMPR1B5.16
30Muscular dystrophyEnrichmentDMD, LMNA, SGCA, SGCD5.10
31Familial atrial fibrillationEnrichmentGATA4, GATA5, GATA6, NKX2-55.01
32Generalized juvenile polyposis/juvenile polyposis coliEnrichmentBMPR1A, SMAD44.94
33Tetralogy of fallotEnrichmentGATA4, GATA5, GATA6, NKX2-54.86
34Undetermined early-onset epileptic encephalopathyEnrichmentCACNA1A, CACNA1B, CACNA2D14.85
35Nevus, epidermalEnrichmentHRAS, KRAS, NRAS4.80
36Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3004.77
37Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3004.77
38Autosomal dominant macrothrombocytopeniaEnrichmentACTN1, ITGA2B, ITGB34.74
39Creatine phosphokinase, elevated serumEnrichmentCAPN3, DAG1, DMD4.65
40Isolated elevated serum creatine phosphokinase levelsEnrichmentCAPN3, DAG1, DMD4.65
41Heritable pulmonary arterial hypertensionEnrichmentACVRL1, BMPR2, SMAD94.53
42Progressive familial heart blockEnrichmentDES, DSP4.53
43Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG14.53
44Fibrodysplasia ossificans progressivaEnrichmentACVR1, BMPR24.49
45Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizuresEnrichmentCACNA1A, CACNA1C4.44
46Congenital myopathyEnrichmentCACNA1S, CHRNA1, RYR14.41
47Aortic valve disease 1EnrichmentGATA5, NKX2-5, TAB24.30
48Centronuclear myopathyEnrichmentCACNA1S, CHRNA1, RYR14.28
49Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS4.22
50Heart diseaseEnrichmentCREBBP, GATA4, NKX2-54.20
51Bladder cancerEnrichmentEGFR, HRAS, KRAS, RB14.14
52Ventricular fibrillation, paroxysmal familial, 1EnrichmentCACNA1C, RYR24.14
53Malignant hyperthermiaEnrichmentCACNA1S, RYR14.14
54Bleeding disorder, platelet-type, 16EnrichmentITGA2B, ITGB34.06
55Epidermolysis bullosa, lethal acantholyticEnrichmentDSP, JUP4.06
56Juvenile myelomonocytic leukemiaEnrichmentKRAS, NRAS, RRAS4.01
57Lip and oral cavity carcinomaEnrichmentEGFR, HRAS, RB14.01
58Cardiomyopathy, dilated, 1eEnrichmentDES, LMNA, PKP24.00
59Rare genetic intellectual disabilityEnrichmentCREBBP, EP3003.93
60Psoriatic arthritisEnrichmentLTA, TNF3.92
61Heart conduction diseaseEnrichmentCACNA1C, RYR23.91
62Emery-dreifuss muscular dystrophy 1, x-linkedEnrichmentEMD, LMNA3.76
63Emery-dreifuss muscular dystrophyEnrichmentEMD, LMNA3.76
64Large congenital melanocytic nevusEnrichmentHRAS, NRAS3.74
65Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM1, RYR23.74
66Cardiomyopathy, dilated, 1aEnrichmentDSC2, DSP, LMNA3.71
67Noonan syndrome and noonan-related syndromeEnrichmentHRAS, KRAS, NRAS3.71
68Arrhythmogenic right ventricular dysplasia, familial, 1EnrichmentDSC2, PKP23.54
69Cardiac arrestEnrichmentCACNA2D1, DSP3.54
70Arrhythmogenic right ventricular dysplasia 1EnrichmentDSC2, PKP23.54
71Persistent truncus arteriosusEnrichmentGATA6, NKX2-53.49
72Multiple pterygium syndrome, lethal typeEnrichmentCHRNA1, RYR13.47
73Congenital muscular dystrophyEnrichmentCAPN3, RYR13.47
74Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM1, RYR23.47
75Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS3.44
76MyopathyEnrichmentCAPN3, DMD, RYR13.43
77Autosomal recessive limb-girdle muscular dystrophy type 2bEnrichmentCAPN3, LMNA3.40
78Epidermolysis bullosa, junctional 5b, with pyloric atresiaEnrichmentITGA6, ITGB43.36
79Inherited arrhythmogenic cardiomyopathyEnrichmentDSP, PKP23.36
80Ellis-van creveld syndromeEnrichmentPRKACA, PRKACB3.36
81Hydrops fetalisEnrichmentRYR1, RYR33.36
82Developmental and epileptic encephalopathyEnrichmentCACNA1E, CACNA2D23.35
83Conotruncal heart malformationsEnrichmentGATA6, NKX2-53.32
84Glanzmann thrombasthenia 1EnrichmentITGA2B, ITGB33.22
85Migraine with or without aura 1EnrichmentCACNA1A, CAPN33.18
86Hereditary hemorrhagic telangiectasiaEnrichmentACVRL1, SMAD43.17
87Familial hypertrophic cardiomyopathyEnrichmentACTN2, DES, DMD3.12
88MyocarditisEnrichmentDSP, LMNA3.09
89Epilepsy, idiopathic generalized 9EnrichmentCACNB43.05
90Brugada syndrome 4EnrichmentCACNB23.05
91Episodic ataxia, type 5EnrichmentCACNB43.05
92Intellectual developmental disorder, autosomal dominant 10EnrichmentCACNG23.05
93Developmental and epileptic encephalopathy 110EnrichmentCACNA2D13.05
94Developmental and epileptic encephalopathy 69EnrichmentCACNA1E3.05
95Sporadic hemiplegic migraineEnrichmentCACNA1A3.05
96Benign paroxysmal torticollis of infancyEnrichmentCACNA1A3.05
97Lung squamous cell carcinomaEnrichmentEGFR, KRAS3.05
98Lennox-gastaut syndromeEnrichmentCACNA1A, MAPK103.05
99Junctional epidermolysis bullosaEnrichmentITGA6, ITGB42.99
100Cone-rod dystrophy 6EnrichmentCACNA1F, CACNA2D42.96
101Lung cancerEnrichmentCASP8, FAS, FASLG2.96
102Polyposis syndrome, hereditary mixed, 2EnrichmentBMPR1A2.96
103Acromesomelic dysplasia 3EnrichmentBMPR1B2.96
104Brachydactyly, type a1, dEnrichmentBMPR1B2.96
105Pulmonary hypertension, primary, 2EnrichmentSMAD92.96
10620p12.3 microdeletion syndromeEnrichmentBMP22.96
107Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1EnrichmentBMP22.96
108Menke-hennekam syndrome 1EnrichmentCREBBP2.96
109Heritable thoracic aortic diseaseEnrichmentSMAD42.96
110Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP2.96
111Primary pulmonary hypertensionEnrichmentBMPR22.96
112Pulmonary hypertensionEnrichmentBMPR22.96
113Drug- or toxin-induced pulmonary arterial hypertensionEnrichmentBMPR22.96
114Menke-hennekam syndromeEnrichmentCREBBP2.96
115Lymphoma, non-hodgkin, familialEnrichmentCASP10, PRF12.95
116Ovarian cancerEnrichmentCDKN1B, EGFR, KRAS, RB1, RRAS22.94
117Thyroid cancer, nonmedullary, 2EnrichmentHRAS, NRAS2.91
118Leukemia, chronic myeloidEnrichmentKRAS, NRAS2.91
119Noonan syndrome 3EnrichmentHRAS, KRAS2.91
120Follicular thyroid carcinomaEnrichmentHRAS, NRAS2.91
121Differentiated thyroid carcinomaEnrichmentHRAS, KRAS, NRAS2.84
122Melanocytic nevus syndrome, congenitalEnrichmentHRAS, NRAS2.78
123Alternating hemiplegia of childhood 1EnrichmentCACNA1A2.75
124Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movementsEnrichmentCACNA1B2.75
125Progressive bulbar palsyEnrichmentCACNA1A2.75
126Non-immune hydrops fetalisEnrichmentACTA1, HRAS, KRAS2.75
127Beckwith-wiedemann syndromeEnrichmentDMD, RYR12.74
128Muscular dystrophy, limb-girdle, autosomal recessive 2EnrichmentLMNA, SGCB2.73
129Myhre syndromeEnrichmentSMAD42.66
130Thumb deformityEnrichmentCREBBP2.66
131Pulmonary venoocclusive disease 1, autosomal dominantEnrichmentBMPR22.66
132Histiocytoma, angiomatoid fibrousEnrichmentCREB12.66
133Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD42.66
134Menke-hennekam syndrome 2EnrichmentEP3002.66
135Pulmonary venoocclusive disease 1EnrichmentBMPR22.66
136Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP2.66
137Craniosynostosis 7EnrichmentBMP22.66
138Hereditary mixed polyposis syndromeEnrichmentBMPR1A2.66
139Pulmonary venoocclusive diseaseEnrichmentBMPR22.66
140Juvenile polyposis of infancyEnrichmentBMPR1A2.66
141Idiopathic/heritable pulmonary arterial hypertensionEnrichmentBMPR22.66
142ThrombocytopeniaEnrichmentACTN1, ITGA2B, ITGB32.65
143Pulmonary hypertension, primary, 1EnrichmentACVRL1, BMPR22.61
144Acute promyelocytic leukemiaEnrichmentPRKAR1A, STAT32.61
145Van der woude syndrome 1EnrichmentCACNA1E2.58
146Hereditary episodic ataxiaEnrichmentCACNA1A2.58
147Congenital stationary night blindnessEnrichmentCACNA1F, CACNA2D42.53
148Brachydactyly, type a1EnrichmentBMPR1B2.48
149Brachydactyly, type cEnrichmentBMPR1B2.48
150Acromesomelic dysplasia 2aEnrichmentBMPR1B2.48
151Acromesomelic dysplasia 2cEnrichmentBMPR1B2.48
152Acromesomelic dysplasia 2bEnrichmentBMPR1B2.48
153Transposition of the great arteries, dextro-loopedEnrichmentBMP22.48
154Tethered spinal cord syndromeEnrichmentCREBBP2.48
155Intraocular pressure quantitative trait locusEnrichmentCREBBP2.48
156Melanoma of soft tissueEnrichmentCREB12.48
157Migraine, familial hemiplegic, 1EnrichmentCACNA1A2.45
158Spinocerebellar ataxia 6EnrichmentCACNA1A2.45
159Developmental and epileptic encephalopathy 2EnrichmentCACNA1A2.45
160Developmental and epileptic encephalopathy 42EnrichmentCACNA1A2.45
161Cerebellar atrophy with seizures and variable developmental delayEnrichmentCACNA2D22.45
162Developmental and epileptic encephalopathy 52EnrichmentCACNA1A2.45
163Episodic ataxiaEnrichmentCACNA1A2.45
164Familial or sporadic hemiplegic migraineEnrichmentCACNA1A2.45
165Acrodysostosis 1 with or without hormone resistanceEnrichmentPRKAR1A2.45
166Thyrotoxic periodic paralysis 1EnrichmentCACNA1S2.45
167Carney complex, type 1EnrichmentPRKAR1A2.45
168Noonan syndrome 13EnrichmentMAPK12.45
169Neurodevelopmental disorder with speech impairment and with or without seizuresEnrichmentCACNA1I2.45
170Congenital myopathy 18EnrichmentCACNA1S2.45
171Cone-rod dystrophy, x-linked, 3EnrichmentCACNA1F2.45
172Retinal cone dystrophy 4EnrichmentCACNA2D42.45
173Cardioacrofacial dysplasia 2EnrichmentPRKACB2.45
174Myxoma, intracardiacEnrichmentPRKAR1A2.45
175Primary aldosteronism, seizures, and neurologic abnormalitiesEnrichmentCACNA1D2.45
176Brugada syndrome 3EnrichmentCACNA1C2.45
177Epilepsy, childhood absence 6EnrichmentCACNA1H2.45
178Malignant hyperthermia 5EnrichmentCACNA1S2.45
179Sinoatrial node dysfunction and deafnessEnrichmentCACNA1D2.45
180Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA2.45
181Spinocerebellar ataxia 42EnrichmentCACNA1G2.45
182Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficitsEnrichmentCACNA1G2.45
183Cardioacrofacial dysplasia 1EnrichmentPRKACA2.45
184Hyperaldosteronism, familial, type ivEnrichmentCACNA1H2.45
185Prkar1b-related neurodegenerative dementia with intermediate filamentsEnrichmentPRKAR1B2.45
186Conn's syndromeEnrichmentCACNA1H2.45
187Atypical timothy syndromeEnrichmentCACNA1C2.45
188Aldosterone-producing adenoma with seizures and neurological abnormalitiesEnrichmentCACNA1D2.45
189Timothy syndrome type 2EnrichmentCACNA1C2.45
190Periodic paralysis with transient compartment-like syndromeEnrichmentCACNA1S2.45
191Timothy syndrome type 1EnrichmentCACNA1C2.45
192Cacna1c-related disordersEnrichmentCACNA1C2.45
193Pyloric stenosis, infantile hypertrophic, 1EnrichmentNOS12.45
194Muscular dystrophy, becker typeEnrichmentDMD2.45
195Muscular dystrophy-dystroglycanopathy , type a, 9EnrichmentDAG12.45
196Vitreoretinopathy, neovascular inflammatoryEnrichmentCAPN52.45
197Congenital myopathy 20EnrichmentRYR32.45
198Pulmonary hypertension, primary, 6EnrichmentCAPNS12.45
199Cardiomyopathy, dilated, 3bEnrichmentDMD2.45
200Long qt syndrome 12EnrichmentSNTA12.45
201Long qt syndrome 16EnrichmentCALM32.45
202Muscular dystrophy-dystroglycanopathy , type c, 9EnrichmentDAG12.45
203Polycystic ovary syndromeEnrichmentCAPN102.45
204Congenital myopathy with myasthenic-like onsetEnrichmentRYR12.45
205Long qt syndrome 15EnrichmentCALM22.45
206Symptomatic form of muscular dystrophy of duchenne and becker in female carriersEnrichmentDMD2.45
207Progressive muscular atrophyEnrichmentCAPN32.45
208Duchenne and becker muscular dystrophyEnrichmentDMD2.45
209Muscle-eye-brain disease with bilateral multicystic leucodystrophyEnrichmentDAG12.45
210Qualitative or quantitative defects of calpainEnrichmentCAPN32.45
211Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathyEnrichmentRYR12.45
212Qualitative or quantitative defects of dystrophinEnrichmentDMD2.45
213Benign samaritan congenital myopathyEnrichmentRYR12.45
214Colorectal cancerEnrichmentEP300, SMAD42.39
215Episodic ataxia, type 2EnrichmentCACNA1A2.35
216Congenital short qt syndromeEnrichmentCACNA2D12.35
217Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentEMD, LMNA2.33
218Diffuse large b-cell lymphomaEnrichmentCREBBP, STAT32.28
219Palmoplantar keratoderma and congenital alopecia 1EnrichmentGJA12.26
220Hypoplastic left heart syndrome 1EnrichmentGJA12.26
221Baraitser-winter syndrome 1EnrichmentACTB2.26
222Muscular dystrophy, limb-girdle, autosomal recessive 6EnrichmentSGCD2.26
223Focal segmental glomerulosclerosis 1EnrichmentACTN42.26
224Arrhythmogenic right ventricular dysplasia, familial, 12EnrichmentJUP2.26
225Macular dystrophy, patterned, 2EnrichmentCTNNA12.26
226Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompactionEnrichmentACTN22.26
227Oculodentodigital dysplasiaEnrichmentGJA12.26
228Scapuloperoneal syndrome, neurogenic, kaeser typeEnrichmentDES2.26
229Muscular dystrophy, limb-girdle, autosomal recessive 5EnrichmentSGCG2.26
230Arrhythmogenic right ventricular dysplasia, familial, 13EnrichmentCTNNA32.26
231Craniometaphyseal dysplasia, autosomal recessiveEnrichmentGJA12.26
232Ectodermal dysplasia 17 with or without limb malformationsEnrichmentLEF12.26
233Naxos diseaseEnrichmentJUP2.26
234Cortical dysplasia, complex, with other brain malformations 9EnrichmentCTNNA22.26
235Congenital myopathy 8EnrichmentACTN22.26
236Fetomaternal alloimmune thrombocytopenia 2EnrichmentITGA2B2.26
237Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB2.26
238Cardiomyopathy, dilated, 1lEnrichmentSGCD2.26
239Agenesis of corpus callosum, cardiac, ocular, and genital syndromeEnrichmentCDH22.26
240Oculodentodigital dysplasia, autosomal recessiveEnrichmentGJA12.26
241Actn3 deficiencyEnrichmentACTN32.26
242Becker nevus syndromeEnrichmentACTB2.26
243Dystonia-deafness syndrome 1EnrichmentACTB2.26
244Arrhythmogenic right ventricular dysplasia, familial, 14EnrichmentCDH22.26
245Autosomal recessive limb-girdle muscular dystrophy type 2cEnrichmentSGCG2.26
246Bleeding disorder, platelet-type, 15EnrichmentACTN12.26
247Atypical werner syndromeEnrichmentLMNA2.26
248Erythrokeratodermia variabilis et progressiva 3EnrichmentGJA12.26
249Autosomal recessive limb-girdle muscular dystrophy type 2fEnrichmentSGCD2.26
250Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB2.26
251Myopathy, distal, 6, adult-onset, autosomal dominantEnrichmentACTN22.26
252Attention deficit-hyperactivity disorder 8EnrichmentCDH22.26
253Adenoid ameloblastomaEnrichmentCTNNB12.26
254Amelogenesis imperfecta, type ihEnrichmentITGB62.26
255Baraitser-winter syndromeEnrichmentACTB2.26
256Mandibuloacral dysplasiaEnrichmentLMNA2.26
257Atrioventricular blockEnrichmentLMNA2.26
258Skin fragility-woolly hair-palmoplantar keratoderma syndromeEnrichmentDSP2.26
259Rhabdomyolysis 2EnrichmentATP2A22.26
260Qualitative or quantitative defects of sarcoglycanEnrichmentSGCA2.26
261Fetomaternal alloimmune thrombocytopenia 3EnrichmentITGA22.26
262Immune dysregulation, neurodevelopmental defects, and colitisEnrichmentITGAV2.26
263Congenital smooth muscle hamartomaEnrichmentACTB2.26
264Developmental malformations-deafness-dystonia syndromeEnrichmentACTB2.26
265Lmna-related cardiocutaneous progeria syndromeEnrichmentLMNA2.26
266Autosomal semi-dominant severe lipodystrophic laminopathyEnrichmentLMNA2.26
267Microcystic stromal tumorEnrichmentCTNNB12.26
268Autosomal recessive axonal hereditary motor and sensory neuropathyEnrichmentLMNA2.26
269Laminin subunit alpha 2-related muscular dystrophyEnrichmentLAMA22.26
270LaminopathyEnrichmentLMNA2.26
271Rubinstein-taybi syndrome 2EnrichmentEP3002.26
272Atrial septal defect 7 with or without atrioventricular conduction defectsEnrichmentNKX2-52.24
273Cardiospondylocarpofacial syndromeEnrichmentMAP3K72.24
274Hypothyroidism, congenital, nongoitrous, 5EnrichmentNKX2-52.24
275Anemia, congenital, nonspherocytic hemolytic, 9EnrichmentGATA12.24
276Thrombocytopenia, x-linked, with or without dyserythropoietic anemiaEnrichmentGATA12.24
277Thrombocytopenia with beta-thalassemia, x-linkedEnrichmentGATA12.24
278Telangiectasia, hereditary hemorrhagic, type 2EnrichmentACVRL12.24
279Frontometaphyseal dysplasia 2EnrichmentMAP3K72.24
280Atrioventricular septal defect 4EnrichmentGATA42.24
281Atrioventricular septal defect 5EnrichmentGATA62.24
282Congenital heart defects, multiple types, 5EnrichmentGATA52.24
283Anemia, x-linked, with or without neutropenia and/or platelet abnormalitiesEnrichmentGATA12.24
284Lymphedema, primary, with myelodysplasiaEnrichmentGATA22.24
285Microphthalmia, syndromic 6EnrichmentBMP42.24
286Orofacial cleft 11EnrichmentBMP42.24
287T-cell large granular lymphocyte leukemiaEnrichmentSTAT32.24
288Atrial septal defect 2EnrichmentGATA42.24
289Ventricular septal defect 3EnrichmentNKX2-52.24
290Immunodeficiency 21EnrichmentGATA22.24
291Testicular anomalies with or without congenital heart diseaseEnrichmentGATA42.24
292Hypoplastic left heart syndrome 2EnrichmentNKX2-52.24
293Atrial septal defect 9EnrichmentGATA62.24
294Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT32.24
2958p23.1 microdeletion syndromeEnrichmentGATA42.24
296Deafness-lymphedema-leukemia syndromeEnrichmentGATA22.24
297TelangiectasisEnrichmentACVRL12.24
298Acute megakaryoblastic leukemia in children with down syndromeEnrichmentGATA12.24
299Thrombocytopenia with congenital dyserythropoietic anemiaEnrichmentGATA12.24
300Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT32.24
301Aortic arch interruptionEnrichmentNKX2-52.24
302Atrial heart septal defect 7EnrichmentNKX2-52.24
303Partial atrioventricular septal defect with ventricular hypoplasiaEnrichmentGATA42.24
304Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT32.24
305Polyvalvular heart disease syndromeEnrichmentTAB22.24
306Congenital myopathy 4a, autosomal dominantEnrichmentACTA1, ITGA72.23
307Cone-rod dystrophy 2EnrichmentCACNA1F, CACNA2D4, ITGA42.22
308Brugada syndrome 1EnrichmentCACNA2D12.21
309Periodic fever, familial, autosomal dominantEnrichmentTNFRSF1A2.19
310Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typicalEnrichmentLMNB12.19
311Hemophagocytic lymphohistiocytosis, familial, 2EnrichmentPRF12.19
312Caspase 8 deficiencyEnrichmentCASP82.19
313Leprosy 4EnrichmentLTA2.19
314Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK12.19
315Adult onset demyelinating leukodystrophyEnrichmentLMNB12.19
316Epilepsy, progressive myoclonic, 9EnrichmentLMNB22.19
317Thrombocytopenia 4EnrichmentCYCS2.19
318Autoimmune lymphoproliferative syndrome, type iiaEnrichmentCASP102.19
319Lipodystrophy, partial, acquiredEnrichmentLMNB22.19
320Intellectual developmental disorder, autosomal recessive 34, with variant lissencephalyEnrichmentCRADD2.19
321Immunodeficiency 26 with or without neurologic abnormalitiesEnrichmentPRKDC2.19
322Multiple sclerosis 5EnrichmentTNFRSF1A2.19
323Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunctionEnrichmentFADD2.19
324Microcephaly 26, primary, autosomal dominantEnrichmentLMNB12.19
325Tnf receptor-associated periodic fever syndromeEnrichmentTNFRSF1A2.19
326Acid sphingomyelinase deficiencyEnrichmentSMPD12.19
327Microcephaly 27, primary, autosomal dominantEnrichmentLMNB22.19
328Trilateral retinoblastomaEnrichmentRB12.19
329Intellectual developmental disorder, autosomal recessive 80, with variant lissencephalyEnrichmentCASP22.19
330Immunodeficiency 112EnrichmentMAP3K142.19
331Silver-russell syndrome due to maternal uniparental disomy of chromosome 7EnrichmentGRB102.19
332Fatal post-viral neurodegenerative disorderEnrichmentPRF12.19
333Nik deficiencyEnrichmentMAP3K142.19
334Lung oat cell carcinomaEnrichmentRB12.19
335Behcet syndromeEnrichmentFAS, TNFRSF1A2.19
336Atrial septal defect 1EnrichmentBMP22.18
337HypertrichosisEnrichmentCREBBP2.18
338Eye diseaseEnrichmentCACNA1F, CACNA2D42.17
339Alternating hemiplegia of childhoodEnrichmentCACNA1A2.15
340Difference of sex developmentEnrichmentCACNA1A2.15
341Amelogenesis imperfecta, type igEnrichmentPRKAR1A2.15
342Timothy syndromeEnrichmentCACNA1C2.15
343Night blindness, congenital stationary, type 2aEnrichmentCACNA1F2.15
344Pigmented nodular adrenocortical disease, primary, 1EnrichmentPRKAR1A2.15
345Bleeding disorder, platelet-type, 19EnrichmentPRKACG2.15
346Spinocerebellar ataxia 23EnrichmentPDYN2.15
347Long qt syndrome 8EnrichmentCACNA1C2.15
348Marbach-schaaf neurodevelopmental syndromeEnrichmentPRKAR1B2.15
349Usher syndrome, type ivEnrichmentPRKAR1A2.15
350AcrodysostosisEnrichmentPRKAR1A2.15
351Fibrolamellar carcinomaEnrichmentPRKACA2.15
352Ciliary dyskinesia, primary, 18EnrichmentPRKAR1B2.15
353Congenital disorder of glycosylation, type iw, autosomal dominantEnrichmentCACNA1D2.15
354Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPRKAR1A2.15
355Malignant hyperthermia 1EnrichmentRYR12.15
356Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndromeEnrichmentRYR22.15
357Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM12.15
358Spastic paraplegia 76, autosomal recessiveEnrichmentCAPN12.15
359Long qt syndrome 14EnrichmentCALM12.15
360Ventricular tachycardia, catecholaminergic polymorphic, 2EnrichmentRYR22.15
361King-denborough syndromeEnrichmentRYR12.15
362Exercise-induced malignant hyperthermiaEnrichmentRYR12.15
363Cardiomyopathy, familial hypertrophic, 1EnrichmentCACNA1C, LMNA2.13
364Gallbladder cancerEnrichmentSMAD42.11
365Oculoectodermal syndromeEnrichmentKRAS2.11
366Systemic lupus erythematosus 6EnrichmentITGAM2.11
367Hypomagnesemia 4, renalEnrichmentEGF2.11
368Melanoma, cutaneous malignant 3EnrichmentCDK42.11
369Congenital myopathy 2a, typical, autosomal dominantEnrichmentACTA12.11
370Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3EnrichmentCCND22.11
371Microcephaly 12, primary, autosomal recessiveEnrichmentCDK62.11
372Melanosis, neurocutaneousEnrichmentNRAS2.11
373Myopathy, scapulohumeroperonealEnrichmentACTA12.11
374Noonan syndrome 6EnrichmentNRAS2.11
375Noonan syndrome 11EnrichmentMRAS2.11
376Megacystis-microcolon-intestinal hypoperistalsis syndrome 5EnrichmentACTG22.11
377Cardiofaciocutaneous syndrome 2EnrichmentKRAS2.11
378Cardiomyopathy, dilated, 1wEnrichmentVCL2.11
379Neuroendocrine tumorEnrichmentCDKN1B2.11
380Visceral neuropathy, familial, 3, autosomal dominantEnrichmentACTG22.11
381Cardiomyopathy, familial hypertrophic, 15EnrichmentVCL2.11
382Congenital myopathy 2b, severe infantile, autosomal recessiveEnrichmentACTA12.11
383Autosomal dominant familial visceral neuropathyEnrichmentACTG22.11
384Thrombocytopenia 6EnrichmentSRC2.11
385Congenital myopathy 2c, severe infantile, autosomal dominantEnrichmentACTA12.11
386Congenital pulmonary airway malformationEnrichmentKRAS2.11
387Zebra body myopathyEnrichmentACTA12.11
388Capillary leak syndromeEnrichmentTLN12.11
389Phakomatosis pigmentokeratoticaEnrichmentHRAS2.11
390Actin-accumulation myopathyEnrichmentACTA12.11
391Myopathic intestinal pseudoobstructionEnrichmentACTG22.11
392Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF2.11
393Neurocutaneous melanocytosisEnrichmentNRAS2.11
394Actg2 visceral myopathyEnrichmentACTG22.11
395Cerebral palsyEnrichmentCACNA1A, CACNA1C2.08
396Hemochromatosis, type 1EnrichmentBMP22.05
397Inherited cancer-predisposing syndromeEnrichmentBMPR1A, SMAD42.04
398Arteriovenous malformations of the brainEnrichmentEGFR, KRAS2.02
399Epilepsy, myoclonic juvenileEnrichmentCACNB42.01
400Tooth agenesis, selective, 1EnrichmentBMPR22.00
401Charge syndromeEnrichmentEP3002.00
402Autoinflammatory diseaseEnrichmentPRF1, TNFRSF1A1.99
403Thyrotoxic periodic paralysisEnrichmentCACNA1S1.98
404Type 1 diabetes mellitus 2EnrichmentCAPN101.98
405Muscular dystrophy, duchenne typeEnrichmentDMD1.98
406Lynch syndrome 5EnrichmentRYR11.98
407Muscular dystrophy, limb-girdle, autosomal dominant 4EnrichmentCAPN31.98
408Autosomal recessive limb-girdle muscular dystrophy type 2aEnrichmentCAPN31.98
409Bronchopulmonary dysplasiaEnrichmentRYR11.98
410Ectrodactyly and ectodermal dysplasia without cleft lip/palateEnrichmentLEF11.96
411Acrokeratosis verruciformisEnrichmentATP2A21.96
412Mandibuloacral dysplasia with type a lipodystrophyEnrichmentLMNA1.96
413Osteopathia striata with cranial sclerosisEnrichmentCTNNB11.96
414Arrhythmogenic right ventricular dysplasia, familial, 8EnrichmentDSP1.96
415Myopathy, x-linked, with postural muscle atrophyEnrichmentEMD1.96
416Arrhythmogenic right ventricular dysplasia, familial, 11EnrichmentDSC21.96
417Muscular dystrophy, limb-girdle, autosomal recessive 4EnrichmentSGCB1.96
418Heart-hand syndrome, slovenian typeEnrichmentLMNA1.96
419Deafness, autosomal dominant 20EnrichmentACTG11.96
420Charcot-marie-tooth disease, axonal, type 2b1EnrichmentLMNA1.96
421Baraitser-winter syndrome 2EnrichmentACTG11.96
422Cardiomyopathy, dilated, with hypergonadotropic hypogonadismEnrichmentLMNA1.96
423Hallermann-streiff syndromeEnrichmentGJA11.96
424Cardiomyopathy, dilated, 1iEnrichmentDES1.96
425Muscular dystrophy, limb-girdle, autosomal recessive 3EnrichmentSGCA1.96
426Syndactyly, type iiiEnrichmentGJA11.96
427Syndactyly, type vEnrichmentGJA11.96
428Keratosis palmoplantaris striata iiEnrichmentDSP1.96
429Cardiomyopathy, dilated, 1bbEnrichmentDSG21.96
430Cardiomyopathy, dilated, 1dEnrichmentLMNA1.96
431Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesisEnrichmentDSP1.96
432Restrictive dermopathy 2EnrichmentLMNA1.96
433Emery-dreifuss muscular dystrophy 3, autosomal recessiveEnrichmentLMNA1.96
434Epidermolysis bullosa, junctional 5a, intermediateEnrichmentITGB41.96
435Autosomal recessive limb-girdle muscular dystrophy type 2dEnrichmentSGCA1.96
436Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndromeEnrichmentITGA31.96
437Childhood hepatocellular carcinomaEnrichmentCTNNB11.96
438Craniometaphyseal dysplasiaEnrichmentGJA11.96
439Split hand-foot malformationEnrichmentLEF11.96
440Lipodystrophy, familial partial, type 1EnrichmentLMNA1.96
441Cardiomyopathy, dilated, with woolly hair and keratodermaEnrichmentDSP1.96
442Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB11.96
443Localized junctional epidermolysis bullosa, non-herlitz typeEnrichmentITGB41.96
444Familial partial lipodystrophyEnrichmentLMNA1.96
445Qualitative or quantitative defects of beta-sarcoglycanEnrichmentSGCB1.96
446TeratomaEnrichmentCTNNB11.96
447GlycoproteinosisEnrichmentSGCB1.96
448Charcot-marie-tooth disease type 2b1EnrichmentLMNA1.96
449X-linked emery-dreifuss muscular dystrophyEnrichmentEMD1.96
450Myeloproliferative syndrome, transientEnrichmentGATA11.94
451Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndromeEnrichmentGATA31.94
452Porphyria, congenital erythropoieticEnrichmentGATA11.94
453Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.94
454Heterotaxy, visceral, 4, autosomalEnrichmentACVR2B1.94
455Neutropenia, severe congenital, 8, autosomal dominantEnrichmentGATA61.94
456Acute basophilic leukemiaEnrichmentGATA11.94
45746,xy sex reversal 3EnrichmentGATA41.94
458Congenital heart defects, multiple types, 2EnrichmentTAB21.94
459B-lymphoblastic leukemia/lymphoma with hyperdiploidyEnrichmentGATA31.94
460Hypoparathyroidism-deafness-renal disease syndromeEnrichmentGATA31.94
461Familial isolated congenital aspleniaEnrichmentNKX2-51.94
462Autosomal dominant nonsyndromic deafnessEnrichmentGATA31.94
463Deletion 5q35EnrichmentNKX2-51.94
464Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndromeEnrichmentTAB21.94
465Common variable immunodeficiency 12EnrichmentNFKB11.94
466Familial colorectal cancer type xEnrichmentBMPR1A1.92
467Lipomatosis, multiple symmetric, with or without axonal peripheral neuropathyEnrichmentLMNB21.89
468Chromosome 13q14 deletion syndromeEnrichmentRB11.89
469Deafness, autosomal dominant 64EnrichmentDIABLO1.89
470Immunodeficiency 127EnrichmentTNF1.89
471Autosomal dominant primary microcephalyEnrichmentLMNB11.89
472Intermittent hydrarthrosisEnrichmentTNFRSF1A1.89
473Familial retinoblastomaEnrichmentRB11.89
474Oculootodental syndromeEnrichmentFADD1.89
475Autosomal dominant non-syndromic intellectual disabilityEnrichmentCACNA1I, CACNG21.87
476Aland island eye diseaseEnrichmentCACNA1F1.85
477Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.85
478Carney complex variantEnrichmentPRKAR1A1.85
479Arrhythmogenic right ventricular dysplasia, familial, 10EnrichmentPRKAR1A1.85
480Congenital generalized lipodystrophyEnrichmentFOS1.85
481Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalitiesEnrichmentPOLR2A1.85
482Congenital myopathy 1a, autosomal dominant, with malignant hyperthermiaEnrichmentRYR11.85
483Myopathy, centronuclear, 2EnrichmentRYR11.85
484Sacral defect with anterior meningoceleEnrichmentRYR11.85
485Amyotrophy, monomelicEnrichmentRYR31.85
486Myasthenic syndrome, congenital, 1b, fast-channelEnrichmentCHRNA11.85
487Intellectual developmental disorder, autosomal dominant 26EnrichmentRYR11.85
488Atrial fibrillationEnrichmentSNTA11.85
489Congenital myopathy 1aEnrichmentRYR11.85
490Idiopathic achalasiaEnrichmentNOS11.85
491Paroxysmal familial ventricular fibrillationEnrichmentRYR21.85
492Spastic ataxiaEnrichmentCACNA1G, CACNB41.82
493Leukocyte adhesion deficiency, type iEnrichmentITGB21.81
494Scoliosis, isolated 1EnrichmentMAPK71.81
495Costello syndromeEnrichmentHRAS1.81
496Aortic aneurysm, familial thoracic 2EnrichmentACTA21.81
497Smooth muscle dysfunction syndromeEnrichmentACTA21.81
498Leukocyte adhesion deficiency, type iiiEnrichmentITGB21.81
499Encephalocraniocutaneous lipomatosisEnrichmentKRAS1.81
500Aortic aneurysm, familial thoracic 6EnrichmentACTA21.81
501Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle padsEnrichmentCAST1.81
502Moyamoya disease 5EnrichmentACTA21.81
503Multiple endocrine neoplasia, type ivEnrichmentCDKN1B1.81
504Noonan syndrome 12EnrichmentRRAS21.81
505Intestinal obstructionEnrichmentACTG21.81
506Wooly hair nevusEnrichmentHRAS1.81
507Darier-white diseaseEnrichmentATP2A21.79
508Desmoid disease, hereditaryEnrichmentCTNNB11.79
509Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentITGB31.79
510Myopathy, myofibrillar, 1EnrichmentDES1.79
511Restrictive dermopathy 1EnrichmentLMNA1.79
512Muscular dystrophy, congenital merosin-deficient, 1aEnrichmentLAMA21.79
513Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.79
514Lipodystrophy, familial partial, type 2EnrichmentLMNA1.79
515Muscular dystrophy, congenital, due to integrin alpha-7 deficiencyEnrichmentITGA71.79
516Muscular dystrophy, congenital, lmna-relatedEnrichmentLMNA1.79
517Anus, imperforateEnrichmentCTNNB11.79
518Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-igeEnrichmentDSP1.79
519Exudative vitreoretinopathy 7EnrichmentCTNNB11.79
520Epidermolysis bullosa, junctional 6, with pyloric atresiaEnrichmentITGA61.79
521Woolly hair-skin fragility syndromeEnrichmentDSP1.79
522Desmoid tumorEnrichmentCTNNB11.79
523Keratosis palmoplantaris striataEnrichmentDSP1.79
524Intrinsic cardiomyopathyEnrichmentACTN21.79
525Restrictive dermopathyEnrichmentLMNA1.79
526Butterfly-shaped pigment dystrophyEnrichmentCTNNA11.79
527Bleeding disorder, platelet-type, 24EnrichmentITGB31.79
528Alopecia - intellectual disability syndromeEnrichmentITGB61.79
529Lama2-related muscular dystrophyEnrichmentLAMA21.79
530Polydactyly, postaxial, type a1EnrichmentEP3001.78
531Corpus callosum, agenesis ofEnrichmentCREBBP1.78
532Isolated corpus callosum agenesisEnrichmentCREBBP1.78
533Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP1.78
534Pelvic organ prolapseEnrichmentTAB21.77
535Heart defects, congenital, and other congenital anomaliesEnrichmentGATA61.77
536Breast implant-associated anaplastic large cell lymphomaEnrichmentSTAT31.77
537Hyper ige syndromeEnrichmentSTAT31.77
538Frontometaphyseal dysplasiaEnrichmentMAP3K71.77
539End stage renal diseaseEnrichmentGATA31.77
540Hydrops fetalis, nonimmuneEnrichmentACTA1, HRAS1.76
541AmblyopiaEnrichmentCACNA1F1.76
542Histiocytoid hemangiomaEnrichmentFOS1.76
543Congenital myopathy 1b, autosomal recessiveEnrichmentRYR11.76
544RetinoblastomaEnrichmentRB11.72
545Mycosis fungoidesEnrichmentTNFRSF1B1.72
546Immunodeficiency 98 with autoinflammation, x-linkedEnrichmentFASLG1.72
547Niemann-pick disease, type aEnrichmentSMPD11.72
548Osteogenic sarcomaEnrichmentRB11.72
549Niemann-pick disease, type bEnrichmentSMPD11.72
550Woolly hair, autosomal recessive 3EnrichmentRB11.72
551Hypotrichosis 8EnrichmentRB11.72
552Ceroid lipofuscinosis, neuronal, 6aEnrichmentSMPD11.72
553Squamous cell carcinomaEnrichmentRB11.72
554Migraine without auraEnrichmentTNF1.72
555Bone osteosarcomaEnrichmentRB11.72
556Vogt-koyanagi-harada diseaseEnrichmentFAS1.72
557Saczary syndromeEnrichmentTNFRSF1B1.72
558Charcot-marie-tooth diseaseEnrichmentLAMA2, LMNA1.68
559Hypokalemic periodic paralysis, type 1EnrichmentCACNA1S1.68
560Adrenocortical carcinomaEnrichmentPRKAR1A1.68
561Childhood absence epilepsyEnrichmentCACNA1H1.68
562Myopathy, centronuclear, 1EnrichmentRYR11.68
563Muscular dystrophy, limb-girdle, autosomal recessive 1EnrichmentCAPN31.68
564Amelogenesis imperfecta, type iiiaEnrichmentITGB61.66
565Hutchinson-gilford progeria syndromeEnrichmentLMNA1.66
566Diffuse gastric and lobular breast cancer syndromeEnrichmentCTNNA11.66
567Polyposis syndrome, hereditary mixed, 1EnrichmentCTNNA11.66
568Microtia-anotiaEnrichmentLMNA1.66
569Epidermolysis bullosa simplex 5c, with pyloric atresiaEnrichmentITGB41.66
570PilomatrixomaEnrichmentCTNNB11.66
571Retinitis pigmentosa 26EnrichmentITGA41.66
572Aminoacylase 1 deficiencyEnrichmentACTB1.66
573Alazami syndromeEnrichmentCTNNB11.66
574CraniopharyngiomaEnrichmentCTNNB11.66
575Sick sinus syndromeEnrichmentLMNA1.66
576Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.66
577Auditory neuropathyEnrichmentCACNA1A1.64
578Down syndromeEnrichmentGATA11.64
579Hemophilia aEnrichmentACVRL11.64
580Factor viii deficiencyEnrichmentACVRL11.64
581Hereditary progressive cardiac conduction defectEnrichmentNKX2-51.64
582Transposition of the great arteriesEnrichmentGATA41.64
583Middle aortic syndromeEnrichmentGATA61.64
584Hypertrophic cardiomyopathyEnrichmentACTN2, PKP21.64
585Langerhans cell histiocytosisEnrichmentNRAS1.63
586Body mass index quantitative trait locus 12EnrichmentCAST1.63
587Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.63
588Proprotein convertase 1/3 deficiencyEnrichmentCAST1.63
589Dedifferentiated liposarcomaEnrichmentCDK41.63
590SpermatocytomaEnrichmentHRAS1.63
591Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.63
592Well-differentiated liposarcomaEnrichmentCDK41.63
593StrabismusEnrichmentCACNA1A1.63
594Myasthenic syndrome, congenital, 1a, slow-channelEnrichmentCHRNA11.61
595Small cell cancer of the lungEnrichmentRB11.59
596Lynch syndrome 4EnrichmentRB11.59
597Cerebral malariaEnrichmentTNF1.59
598ScoliosisEnrichmentCREBBP1.58
599AutismEnrichmentCHRNA1, DMD1.57
600Epidermolysis bullosa simplex 1c, localizedEnrichmentITGB41.57
601Exudative vitreoretinopathy 1EnrichmentCTNNB11.57
602Glanzmann thrombasthenia 2EnrichmentITGB31.57
603Muscular dystrophy, limb-girdle, autosomal recessive 23EnrichmentLAMA21.57
604Epidermolysis bullosaEnrichmentITGA61.57
605Aplasia cutis congenitaEnrichmentITGB41.57
606Cleft upper lipEnrichmentGJA11.57
607Coloboma of choroid and retinaEnrichmentACTG11.57
608Pancreatic cancerEnrichmentSMAD41.56
609Acute megakaryocytic leukemiaEnrichmentGATA11.55
610Breast cancerEnrichmentCACNA2D1, JUN1.54
611MicrocephalyEnrichmentACTB, ACTG1, CTNNB11.53
612Cardiofaciocutaneous syndrome 1EnrichmentKRAS1.51
613Nemaline myopathy 2EnrichmentACTA11.51
614Megacystis-microcolon-intestinal hypoperistalsis syndrome 1EnrichmentACTG21.51
615Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentCCND21.51
616Mantle cell lymphomaEnrichmentCCND11.51
617Cardiofaciocutaneous syndromeEnrichmentKRAS1.51
618Lung sarcomatoid carcinomaEnrichmentKRAS1.51
619Pilocytic astrocytomaEnrichmentKRAS1.51
620Pregnancy loss, recurrent 1EnrichmentCCNB31.51
621Epidermolytic nevusEnrichmentHRAS1.51
622Primary hyperparathyroidismEnrichmentCDKN1B1.51
623Intermediate nemaline myopathyEnrichmentACTA11.51
624Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentCACNA1C1.50
625Primary hyperaldosteronismEnrichmentCACNA1H1.50
626Limb-girdle muscular dystrophyEnrichmentCAPN31.50
627Lymphoma, mucosa-associated lymphoid typeEnrichmentBIRC31.50
628Niemann-pick disease, type c1EnrichmentSMPD11.50
629Hemophagocytic lymphohistiocytosis, familial, 1EnrichmentPRF11.50
630Niemann-pick diseaseEnrichmentSMPD11.50
631Vascular dementiaEnrichmentTNF1.50
632Autosomal thrombocytopenia with normal plateletsEnrichmentCYCS1.50
633Idiopathic aplastic anemiaEnrichmentPRF11.50
634Emery-dreifuss muscular dystrophy 2, autosomal dominantEnrichmentLMNA1.49
635Weyers acrofacial dysostosisEnrichmentCTNNB11.49
636Epidermolysis bullosa, junctional 1a, intermediateEnrichmentITGB41.49
637Split-hand/foot malformation 1EnrichmentLEF11.49
638Junctional epidermolysis bullosa non-herlitz typeEnrichmentITGB41.49
639Telangiectasia, hereditary hemorrhagic, type 1EnrichmentACVRL11.47
640Anterior segment dysgenesis 5EnrichmentBMP41.47
641Double outlet right ventricleEnrichmentNKX2-51.47
642Hereditary breast ovarian cancer syndromeEnrichmentCTNNA1, CTNNA21.44
643Bethlem myopathy 1aEnrichmentLMNA1.43
644MegacolonEnrichmentSLC8A11.43
645Epidermolysis bullosa simplexEnrichmentITGB41.43
646Myofibrillar myopathyEnrichmentDES1.43
647Congenital hydrocephalusEnrichmentSGCD1.43
648Epilepsy, idiopathic generalizedEnrichmentCACNA1H1.42
649Specific learning disabilityEnrichmentMAPK11.42
650Pectus excavatumEnrichmentDMD1.42
651Atrial heart septal defectEnrichmentDMD1.42
652Interatrial communicationEnrichmentDMD1.42
653Visceral myopathy 1EnrichmentACTG21.41
654Von hippel-lindau syndromeEnrichmentCCND11.41
655Congenital myopathy 3 with rigid spineEnrichmentACTA11.41
656Severe congenital nemaline myopathyEnrichmentACTA11.41
657Leukemia, acute myeloidEnrichmentKRAS, NRAS1.41
658Hypothyroidism, congenital, nongoitrous, 2EnrichmentNKX2-51.40
659Common variable immunodeficiencyEnrichmentNFKB11.40
660Postsynaptic congenital myasthenic syndromesEnrichmentCHRNA11.38
661Erythrokeratodermia variabilis et progressiva 1EnrichmentGJA11.37
662Renal hypodysplasia/aplasia 1EnrichmentITGA81.37
663Exudative vitreoretinopathyEnrichmentCTNNB11.37
664Hypoplastic left heart syndromeEnrichmentGJA11.37
665Gastric cancerEnrichmentCDK4, KRAS1.35
666Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactylyEnrichmentRYR11.35
667ClubfootEnrichmentRYR11.35
668Permanent neonatal diabetes mellitusEnrichmentSTAT31.35
669Cowden syndrome 1EnrichmentEGFR1.34
670Moyamoya disease 1EnrichmentACTA21.34
671Intestinal pseudo-obstructionEnrichmentACTG21.34
672Breast adenocarcinomaEnrichmentKRAS1.34
673Typical nemaline myopathyEnrichmentACTA11.34
674Familial thoracic aortic aneurysm and aortic dissectionEnrichmentSMAD41.32
675Adult hepatocellular carcinomaEnrichmentCTNNB11.32
676Renal agenesis, bilateralEnrichmentITGA81.32
677Walker-warburg syndromeEnrichmentDAG11.31
678Congenital myasthenic syndromeEnrichmentCHRNA11.31
679MyopiaEnrichmentCACNA1F1.29
680Cat eye syndromeEnrichmentACTG11.27
681Amelogenesis imperfecta, type ieEnrichmentITGB61.27
682Multiple endocrine neoplasia, type iEnrichmentCDKN1B1.27
683MyelofibrosisEnrichmentSRC1.27
684Squamous cell carcinoma, head and neckEnrichmentEGFR1.27
685Capillary malformation-arteriovenous malformation 1EnrichmentKRAS1.27
686Pilomyxoid astrocytomaEnrichmentKRAS1.27
687Childhood-onset nemaline myopathyEnrichmentACTA11.27
688Peters-plus syndromeEnrichmentBMP41.25
689Ciliary dyskinesia, primary, 3EnrichmentNFKB11.25
690Stickler syndromeEnrichmentBMP41.25
691Sudden infant death syndromeEnrichmentCALM21.23
692Myeloma, multipleEnrichmentCREBBP1.22
693Myelodysplastic syndromeEnrichmentGATA21.21
694Heart, malformation ofEnrichmentMAPK11.21
695Aplastic anemiaEnrichmentPRF11.21
696Esophageal atresia/tracheoesophageal fistulaEnrichmentPOLR2B1.19
697EpicanthusEnrichmentACVR11.17
698Renal hypodysplasia/aplasia 3EnrichmentBMP41.17
699Arteriovenous malformationEnrichmentHRAS1.17
700AsthmaEnrichmentTNF1.17
701Neural tube defectsEnrichmentITGB11.16
702Diaphragmatic hernia, congenitalEnrichmentGATA61.14
703Protein-deficiency anemiaEnrichmentGATA11.14
704Hereditary retinal dystrophyEnrichmentCACNA1F, CACNA2D4, CTNNA1, ITGA41.13
705Fundus dystrophyEnrichmentCACNA1F, CACNA2D4, CTNNA1, ITGA41.13
706Multiple sclerosisEnrichmentITGB41.13
707MedulloblastomaEnrichmentCTNNB11.13
708Isolated macular dystrophyEnrichmentITGA41.13
709Leukemia, chronic lymphocyticEnrichmentCCND11.12
710Myopathy, x-linked, with excessive autophagyEnrichmentHRAS1.12
711Nemaline myopathyEnrichmentACTA11.12
712Aortic aneurysm, familial thoracic 1EnrichmentGATA41.11
713Cleft lip/palateEnrichmentBMP41.11
71446,xy partial gonadal dysgenesisEnrichmentGATA41.11
715Alzheimer's diseaseEnrichmentTNF1.10
716Cone dystrophyEnrichmentCACNA2D41.09
717Septopreoptic holoprosencephalyEnrichmentFOXH11.08
718Midline interhemispheric variant of holoprosencephalyEnrichmentFOXH11.08
719Wolff-parkinson-white syndromeEnrichmentJUP1.08
720Microform holoprosencephalyEnrichmentFOXH11.05
721Lobar holoprosencephalyEnrichmentFOXH11.05
722Interstitial lung disease 2EnrichmentDSP1.05
723Polycystic liver diseaseEnrichmentCTNNB11.05
724Autosomal dominant polycystic liver diseaseEnrichmentCTNNB11.05
725Congenital nervous system abnormalityEnrichmentCACNA1A1.05
726Nervous system diseaseEnrichmentCACNA1A1.05
727Alobar holoprosencephalyEnrichmentFOXH11.03
728Semilobar holoprosencephalyEnrichmentFOXH11.01
729CraniosynostosisEnrichmentCTNNA10.98
730OsteoporosisEnrichmentSRC0.98
731LissencephalyEnrichmentACTG10.96
732HepatoblastomaEnrichmentCTNNB10.96
733Lynch syndromeEnrichmentKRAS0.95
734Hepatocellular carcinomaEnrichmentCTNNB10.95
735Cardiomyopathy, dilated, 1gEnrichmentDSP0.95
736Myocardial infarctionEnrichmentITGB30.95
737Skin diseaseEnrichmentITGB40.95
738Fanconi anemia, complementation group aEnrichmentDMD0.93
739RhabdomyosarcomaEnrichmentHRAS0.93
740GliosarcomaEnrichmentEGFR0.93
741Visceral heterotaxyEnrichmentACVR2B0.92
742Non-syndromic x-linked intellectual disabilityEnrichmentDMD0.92
743Fetal akinesia deformation sequence 1EnrichmentRYR10.91
744Diamond-blackfan anemia 1EnrichmentGATA10.91
745Melanoma, cutaneous malignant 1EnrichmentCDK40.90
746Giant cell glioblastomaEnrichmentEGFR0.90
747MalariaEnrichmentTNF0.86
748Distal arthrogryposisEnrichmentRYR10.86
749Optic atrophy plus syndromeEnrichmentCACNA1F0.84
750Complex neurodevelopmental disorderEnrichmentCACNA1C, TCF7L20.83
751Severe covid-19EnrichmentITGAV0.83
752Peripheral nervous system diseaseEnrichmentLMNA0.79
753NeuropathyEnrichmentLMNA0.79
754CakutEnrichmentACTG10.77
755Genetic steroid-resistant nephrotic syndromeEnrichmentACTN40.77
756Retinitis pigmentosaEnrichmentCACNA1F, CACNA2D40.76
757Non-syndromic genetic deafnessEnrichmentACTG10.75
758Diamond-blackfan anemiaEnrichmentGATA10.73
759SchizophreniaEnrichmentDMD0.72
760Primary ovarian insufficiencyEnrichmentRYR30.72
761Type 2 diabetes mellitusEnrichmentTCF7L20.69
762Nonsyndromic hearing lossEnrichmentACTG10.69
763Nephrotic syndromeEnrichmentITGA30.68
764Systemic lupus erythematosusEnrichmentTNF0.65
765Primary autosomal recessive microcephalyEnrichmentCDK60.65
766Connective tissue diseaseEnrichmentACTA20.65
767Primary ciliary dyskinesiaEnrichmentPRKAR1B0.63
768Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG10.61
769Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentGATA40.56
770Hereditary breast carcinomaEnrichmentKRAS0.53
771Autosomal recessive non-syndromic intellectual disabilityEnrichmentCRADD0.51
772Body mass index quantitative trait locus 11EnrichmentCAST0.49
773Rare genetic deafnessEnrichmentACTG10.45
774Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentGJA10.41

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