ADORA2B mediated anti-inflammatory cytokines production

Pathway network for the ADORA2B mediated anti-inflammatory cytokines production SuperPath

Sources:
  • Reactome
  • QIAGEN
  • WikiPathways
  • GeneGo (Thomson Reuters)
  • PharmGKB

Pathways in the ADORA2B mediated anti-inflammatory cytokines production SuperPath

#NameSourceGenes
1ADORA2B mediated anti-inflammatory cytokines productionReactome
2Parasitic Infection PathwaysReactome
3Leishmania infectionReactome
4Hedgehog Signaling in MammalsQIAGEN
5Relaxin PathwayQIAGEN
6G protein signaling pathwaysWikiPathways
7Signal transduction cAMP signalingGeneGo (Thomson Reuters)
8Anti-inflammatory response favouring Leishmania parasite infectionReactome
9Leishmania parasite growth and survivalReactome
10Alpha-Adrenergic SignalingQIAGEN
11Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisationGeneGo (Thomson Reuters)
12Beta-agonist/Beta-blocker Pathway, PharmacodynamicsPharmGKB
13G alpha (z) signalling eventsReactome
14GPER1 signalingReactome
15FCGR3A-mediated IL10 synthesisReactome
16Glucagon signaling in metabolic regulationReactome
17FCGR activationReactome
18CD163 mediating an anti-inflammatory responseReactome
19LTC4-CYSLTR mediated IL4 productionReactome
20Androgen receptor signaling pathwayWikiPathways

Gene overlap in member pathways for ADORA2B mediated anti-inflammatory cytokines production SuperPath

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

Disorders associated with ADORA2B mediated anti-inflammatory cytokines production SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Cutaneous leishmaniasisDirect
2RasopathyEnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS216.00
3Noonan syndrome 1EnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS, RRAS210.85
4Noonan syndrome and noonan-related syndromeEnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF110.66
5Cardiofaciocutaneous syndrome 1EnrichmentBRAF, KRAS, MAP2K1, MAP2K29.01
6Cardiofaciocutaneous syndromeEnrichmentBRAF, KRAS, MAP2K1, MAP2K29.01
7Lung non-small cell carcinomaEnrichmentBRAF, HRAS, KRAS, MAP2K1, NRAS8.63
8Phosphorylase kinase deficiencyEnrichmentPHKA1, PHKA2, PHKB, PHKG28.32
9Melanocytic nevus syndrome, congenitalEnrichmentBRAF, HRAS, NRAS, RAF17.18
10Langerhans cell histiocytosisEnrichmentBRAF, MAP2K1, NRAS6.75
11Anastomosing haemangiomaEnrichmentGNA11, GNA14, GNAQ6.53
12Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS6.15
13Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS, PRKAR1A5.24
14Nevus, epidermalEnrichmentHRAS, KRAS, NRAS5.22
15Thyroid cancer, nonmedullary, 2EnrichmentBRAF, HRAS, NRAS5.22
16Noonan syndrome 3EnrichmentHRAS, KRAS, RAF15.22
17Pilomyxoid astrocytomaEnrichmentBRAF, KRAS, RAF15.22
18Follicular thyroid carcinomaEnrichmentBRAF, HRAS, NRAS5.22
19Robinow syndrome, autosomal dominant 1EnrichmentDVL1, DVL3, WNT5A5.17
20Autosomal dominant robinow syndromeEnrichmentDVL1, DVL3, WNT5A5.17
21Basal cell nevus syndrome 1EnrichmentPTCH1, PTCH2, SUFU5.09
22Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM35.05
23Robinow syndrome, autosomal recessive 1EnrichmentDVL1, DVL3, WNT5A4.78
24Differentiated thyroid carcinomaEnrichmentBRAF, HRAS, KRAS, NRAS4.69
25Long qt syndrome 1EnrichmentCALM1, CALM2, CALM3, ITPR34.67
26Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG14.52
27Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS4.50
28Glycogen storage disease due to liver phosphorylase kinase deficiencyEnrichmentPHKA2, PHKG24.50
29Autosomal recessive robinow syndromeEnrichmentDVL1, DVL3, WNT5A4.48
30Ellis-van creveld syndromeEnrichmentGLI1, PRKACA, PRKACB4.47
31Juvenile myelomonocytic leukemiaEnrichmentKRAS, NRAS, RRAS4.43
32AcrodysostosisEnrichmentPDE4D, PRKAR1A4.35
33Phakomatosis cesioflammeaEnrichmentGNA11, GNAQ4.35
34Glycogen storage disease ixdEnrichmentPHKA1, PHKG14.02
35Large congenital melanocytic nevusEnrichmentHRAS, NRAS4.02
36Auriculocondylar syndrome 1EnrichmentGNAI3, PLCB43.86
37MedulloblastomaEnrichmentPTCH1, PTCH2, SUFU3.85
38Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentGNA11, PIK3R13.85
39Wiskott-aldrich syndromeEnrichmentWAS, WIPF13.84
40Immunodeficiency 72 with autoinflammation and lymphoproliferationEnrichmentNCKAP1, NCKAP1L3.84
41Immunodeficiency 72EnrichmentNCKAP1, NCKAP1L3.84
42Osteoporosis, juvenileEnrichmentWNT1, WNT3A3.78
43Tubulinopathy-associated dysgyriaEnrichmentTUBB2B, TUBB33.78
44Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS3.72
45Noonan syndrome with multiple lentiginesEnrichmentBRAF, RAF13.72
46Autosomal dominant non-syndromic intellectual disabilityEnrichmentCAMK2A, CAMK2B, GNB1, PPP3CA3.70
47Achromatopsia 4EnrichmentGNAI3, GNAT23.55
48TubulinopathyEnrichmentTUBB2A, TUBB2B3.48
49Severe combined immunodeficiencyEnrichmentCD247, CD3G3.43
50Capillary malformations, congenitalEnrichmentGNA11, GNAQ3.36
51LissencephalyEnrichmentTUBB2B, TUBB3, TUBG13.30
52Ventricular septal defect 1EnrichmentBMP2, BMP73.26
53Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, MAP2K13.18
54Leukemia, chronic myeloidEnrichmentKRAS, NRAS3.18
55Gallbladder cancerEnrichmentBRAF, KRAS3.18
56Melanoma, uvealEnrichmentGNA11, GNAQ3.18
57Basal cell carcinoma 1EnrichmentPTCH1, PTCH23.08
58Congenital fibrosis of the extraocular musclesEnrichmentTUBB2B, TUBB33.08
59Immunodeficiency 20EnrichmentFCGR3A3.05
60Immunodeficiency 82 with systemic inflammationEnrichmentSYK3.05
61Immunodeficiency 25EnrichmentCD2473.05
62Thrombocytopenia 6EnrichmentSRC3.05
63Autoinflammatory disease, systemic, with vasculitisEnrichmentLYN3.05
64Autoinflammation with pulmonary and cutaneous vasculitisEnrichmentHCK3.05
65ColitisEnrichmentSYK3.05
66Arteriovenous malformationEnrichmentHRAS, MAP2K12.95
67Choreatic diseaseEnrichmentGNAO1, PDE2A2.89
68Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K12.86
69Robinow syndrome, autosomal dominant 2EnrichmentDVL1, DVL32.85
70Behcet syndromeEnrichmentIL10, MEFV, PSTPIP12.84
71Hemochromatosis, type 1EnrichmentBMP2, BMP62.82
72Primary hyperaldosteronismEnrichmentBRAF, GNAS2.78
73Glycogen storage diseaseEnrichmentGYS1, GYS22.77
74Immunodeficiency 17EnrichmentCD3G2.75
75ArthritisEnrichmentSYK2.75
76Lip and oral cavity carcinomaEnrichmentBRAF, HRAS2.69
77Autosomal dominant macrothrombocytopeniaEnrichmentTUBA8, TUBB12.62
78Acrodysostosis 1 with or without hormone resistanceEnrichmentPRKAR1A2.61
79Pseudohypoparathyroidism, type icEnrichmentGNAS2.61
80Carney complex, type 1EnrichmentPRKAR1A2.61
81Osseous heteroplasia, progressiveEnrichmentGNAS2.61
82Dyskinesia with orofacial involvement, autosomal dominantEnrichmentADCY52.61
83Deafness, autosomal recessive 44EnrichmentADCY12.61
84Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS2.61
85Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB22.61
86Neurodevelopmental disorder with hyperkinetic movements and dyskinesiaEnrichmentADCY52.61
87Pituitary adenoma 3, multiple typesEnrichmentGNAS2.61
88Cardioacrofacial dysplasia 2EnrichmentPRKACB2.61
89Myxoma, intracardiacEnrichmentPRKAR1A2.61
90Dyskinesia with orofacial involvement, autosomal recessiveEnrichmentADCY52.61
91Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA2.61
92Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB42.61
93Disorders of gnas inactivationEnrichmentGNAS2.61
94Cardioacrofacial dysplasia 1EnrichmentPRKACA2.61
95Mahvash diseaseEnrichmentGCGR2.61
96Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB12.61
97Sick sinus syndrome 4EnrichmentGNB22.61
98Prkar1b-related neurodegenerative dementia with intermediate filamentsEnrichmentPRKAR1B2.61
99Monostotic fibrous dysplasiaEnrichmentGNAS2.61
100Mazabraud syndromeEnrichmentGNAS2.61
101T-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zetaEnrichmentCD2472.58
102Lung cancer susceptibility 3EnrichmentBRAF, KRAS2.56
103Common variable immunodeficiencyEnrichmentNFKB1, NFKB22.54
104Ventricular tachycardia, familialEnrichmentGNAI22.48
105Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesEnrichmentGNAI12.48
106Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB52.48
107Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD2.46
108Spinocerebellar ataxia 14EnrichmentPRKCG2.46
109Lipodystrophy, familial partial, type 8EnrichmentADRA2A2.46
110MeningiomaEnrichmentSMO, SUFU2.45
111Hypertension, essentialEnrichmentADD1, GNB32.41
112Cone-rod dystrophy 6EnrichmentGNAT2, GUCY2D2.39
113Sudden infant death syndromeEnrichmentCALM2, PLN2.37
114MicrocephalyEnrichmentABL1, ACTB, ACTG1, GNB12.32
115Pseudohypoparathyroidism, type iaEnrichmentGNAS2.31
116Amelogenesis imperfecta, type igEnrichmentPRKAR1A2.31
117PseudopseudohypoparathyroidismEnrichmentGNAS2.31
118Lethal congenital contracture syndrome 8EnrichmentADCY62.31
119Bleeding disorder, platelet-type, 19EnrichmentPRKACG2.31
120Night blindness, congenital stationary, type 1hEnrichmentGNB32.31
121Marbach-schaaf neurodevelopmental syndromeEnrichmentPRKAR1B2.31
122Usher syndrome, type ivEnrichmentPRKAR1A2.31
123PseudohypoparathyroidismEnrichmentGNAS2.31
124Body mass index quantitative trait locus 19EnrichmentADCY32.31
125Fibrolamellar carcinomaEnrichmentPRKACA2.31
126Ciliary dyskinesia, primary, 18EnrichmentPRKAR1B2.31
127Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPRKAR1A2.31
128Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS2.31
129Cerebral visual impairmentEnrichmentGNB12.31
130Thyrotoxic periodic paralysis 1EnrichmentCACNA1S2.31
131Intellectual developmental disorder, x-linked, syndromic, christianson typeEnrichmentSLC9A62.31
132Nephrolithiasis/osteoporosis, hypophosphatemic, 2EnrichmentNHERF12.31
133Lichtenstein-knorr syndromeEnrichmentSLC9A12.31
134Noonan syndrome 13EnrichmentMAPK12.31
135Spondylometaphyseal dysplasia with corneal dystrophyEnrichmentPLCB32.31
136Congenital myopathy 18EnrichmentCACNA1S2.31
137Neurodegenerative disorder, x-linked, female-restricted, with parkinsonism and cognitive impairmentEnrichmentSLC9A62.31
138Auriculocondylar syndrome 2aEnrichmentPLCB42.31
139Primary aldosteronism, seizures, and neurologic abnormalitiesEnrichmentCACNA1D2.31
140Brugada syndrome 3EnrichmentCACNA1C2.31
141Malignant hyperthermia 5EnrichmentCACNA1S2.31
142Sinoatrial node dysfunction and deafnessEnrichmentCACNA1D2.31
143Acrodysostosis 2 with or without hormone resistanceEnrichmentPDE4D2.31
144Auriculocondylar syndrome 2bEnrichmentPLCB42.31
145Atypical timothy syndromeEnrichmentCACNA1C2.31
146Aldosterone-producing adenoma with seizures and neurological abnormalitiesEnrichmentCACNA1D2.31
147Timothy syndrome type 2EnrichmentCACNA1C2.31
148Periodic paralysis with transient compartment-like syndromeEnrichmentCACNA1S2.31
149Timothy syndrome type 1EnrichmentCACNA1C2.31
150Cacna1c-related disordersEnrichmentCACNA1C2.31
151Arteriovenous malformations of the brainEnrichmentBRAF, KRAS2.29
152Polydactyly, postaxial, type a1EnrichmentGLI1, PTCH12.26
153Osteogenesis imperfecta, type iiiEnrichmentBMP1, WNT12.26
154Rare genetic intellectual disabilityEnrichmentCREBBP, GNAO12.26
155Anhidrosis, isolated, with normal sweat glandsEnrichmentITPR22.26
156Baraitser-winter syndrome 1EnrichmentACTB2.26
157Cardiomyopathy, familial hypertrophic, 8EnrichmentMYL32.26
158Developmental and epileptic encephalopathy 5EnrichmentSPTAN12.26
159Charcot-marie-tooth disease, demyelinating, type 1jEnrichmentITPR32.26
160Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK12.26
161Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB2.26
162Developmental delay, impaired speech, and behavioral abnormalitiesEnrichmentSPTBN12.26
163Atrial fibrillation, familial, 18EnrichmentMYL42.26
164Nemaline myopathy 7EnrichmentCFL22.26
165Becker nevus syndromeEnrichmentACTB2.26
166Dystonia-deafness syndrome 1EnrichmentACTB2.26
167Long qt syndrome 16EnrichmentCALM32.26
168Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA2.26
169Takenouchi-kosaki syndromeEnrichmentCDC422.26
170Noonan syndrome-like disorder with loose anagen hair 2EnrichmentPPP1CB2.26
171Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB2.26
172Congenital myopathy 14EnrichmentMYL12.26
173Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA2.26
174Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxiaEnrichmentSPTAN12.26
175Developmental delay with or without epilepsyEnrichmentSPTAN12.26
176Long qt syndrome 15EnrichmentCALM22.26
177Baraitser-winter syndromeEnrichmentACTB2.26
178Neuronopathy, distal hereditary motor, autosomal dominant 11EnrichmentSPTAN12.26
179Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathyEnrichmentITPR32.26
180Congenital smooth muscle hamartomaEnrichmentACTB2.26
181Nocarh syndromeEnrichmentCDC422.26
182Developmental malformations-deafness-dystonia syndromeEnrichmentACTB2.26
183Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC12.26
184Oculoectodermal syndromeEnrichmentKRAS2.25
185Pallister-killian syndromeEnrichmentARAF2.25
186Noonan syndrome 5EnrichmentRAF12.25
187Melorheostosis, isolatedEnrichmentMAP2K12.25
188Noonan syndrome 7EnrichmentBRAF2.25
189Leopard syndrome 3EnrichmentBRAF2.25
190Glycogen storage disease ixcEnrichmentPHKG22.25
191Cardiomyopathy, dilated, 1nnEnrichmentRAF12.25
192Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.25
193Melanosis, neurocutaneousEnrichmentNRAS2.25
194Noonan syndrome 6EnrichmentNRAS2.25
195Noonan syndrome 11EnrichmentMRAS2.25
196Intellectual developmental disorder, autosomal recessive 63EnrichmentCAMK2A2.25
197Intellectual developmental disorder, autosomal dominant 54EnrichmentCAMK2B2.25
198Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG12.25
199Cardiofaciocutaneous syndrome 2EnrichmentKRAS2.25
200LymphangiomaEnrichmentBRAF2.25
201Phace associationEnrichmentBRAF2.25
202MelorheostosisEnrichmentMAP2K12.25
203Leopard syndrome 2EnrichmentRAF12.25
204Cardiofaciocutaneous syndrome 4EnrichmentMAP2K22.25
205Autoinflammation, antibody deficiency, and immune dysregulationEnrichmentPLCG22.25
206Familial cold autoinflammatory syndrome 3EnrichmentPLCG22.25
207Congenital heart defects and ectodermal dysplasiaEnrichmentPRKD12.25
208Intellectual developmental disorder, autosomal dominant 53EnrichmentCAMK2A2.25
209TrigonitisEnrichmentRAF12.25
210Intellectual developmental disorder, autosomal dominant 59EnrichmentCAMK2G2.25
211Congenital pulmonary airway malformationEnrichmentKRAS2.25
212Syringocystadenoma papilliferumEnrichmentBRAF2.25
213GangliogliomaEnrichmentBRAF2.25
214Nongerminomatous germ cell tumorEnrichmentBRAF2.25
215Phace syndromeEnrichmentBRAF2.25
216Phakomatosis pigmentokeratoticaEnrichmentHRAS2.25
217Classic hairy cell leukemiaEnrichmentBRAF2.25
218Malignant epithelial tumor of salivary glandsEnrichmentPRKD12.25
219Neurocutaneous melanocytosisEnrichmentNRAS2.25
220Neurodevelopmental disorder with involuntary movementsEnrichmentGNAO12.23
221Developmental and epileptic encephalopathy 91EnrichmentPPP3CA2.23
222Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual developmentEnrichmentPPP3CA2.23
223Developmental and epileptic encephalopathy 17EnrichmentGNAO12.23
224Congenital myopathy with myasthenic-like onsetEnrichmentRYR12.23
225Gnao1-related disorderEnrichmentGNAO12.23
226Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathyEnrichmentRYR12.23
227Benign samaritan congenital myopathyEnrichmentRYR12.23
228MyelofibrosisEnrichmentSRC2.21
229Oligoarticular juvenile idiopathic arthritisEnrichmentCD2472.21
230Rheumatoid factor-negative juvenile idiopathic arthritisEnrichmentCD2472.21
231Microform holoprosencephalyEnrichmentPTCH1, SUFU2.20
232Body mass index quantitative trait locus 11EnrichmentADCY3, GNAS2.18
233Spondyloepimetaphyseal dysplasia, strudwick typeEnrichmentFN12.18
234Spondylometaphyseal dysplasia, corner fracture typeEnrichmentFN12.18
235Pituitary adenoma 4, acth-secretingEnrichmentGNAI22.18
236HypopituitarismEnrichmentGNAI22.18
237Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB52.18
238Hypocalciuric hypercalcemia, familial, type iiEnrichmentGNA112.17
239Striatal degeneration, autosomal dominant 1EnrichmentPDE8B2.17
240Sturge-weber syndromeEnrichmentGNAQ2.17
241Immunodeficiency 62EnrichmentARHGEF12.17
242Long qt syndrome 11EnrichmentAKAP92.17
243Dystonia 25EnrichmentGNAL2.17
244Hypocalcemia, autosomal dominant 2EnrichmentGNA112.17
245Pigmented nodular adrenocortical disease, primary, 3EnrichmentPDE8B2.17
246Deafness, autosomal dominant 74EnrichmentPDE1C2.17
247Spermatogenic failure 82EnrichmentAKAP32.17
248Striatal degeneration, autosomal dominantEnrichmentPDE8B2.17
249Phakomatosis cesiomarmorataEnrichmentGNA112.17
250Kaposiform hemangioendotheliomaEnrichmentGNA142.17
251Proteus syndromeEnrichmentAKT12.16
252Hypertension and brachydactyly syndromeEnrichmentPDE3A2.16
253Ataxia-oculomotor apraxia 3EnrichmentPIK3R52.16
254Short syndromeEnrichmentPIK3R12.16
255Night blindness, congenital stationary, type1iEnrichmentGUCY2D2.16
256Intellectual developmental disorder with paroxysmal dyskinesia or seizuresEnrichmentPDE2A2.16
257Microvascular complications of diabetes 1EnrichmentVEGFA2.16
258Night blindness, congenital stationary, autosomal dominant 3EnrichmentGNAT12.16
259Moyamoya disease 6 with or without achalasiaEnrichmentGUCY1A12.16
260Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.16
261Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic faciesEnrichmentRAP1B2.16
262Night blindness, congenital stationary, type 1gEnrichmentGNAT12.16
263Cowden syndrome 6EnrichmentAKT12.16
264Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.16
265Moyamoya disease with early-onset achalasiaEnrichmentGUCY1A12.16
266Mccune-albright syndromeEnrichmentGNAS2.14
267Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS2.14
268Hypomyelination neuropathy-arthrogryposis syndromeEnrichmentADCY62.14
269Mullerian aplasia and hyperandrogenismEnrichmentWNT42.12
27046,xy sex reversal 7EnrichmentDHH2.12
271Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvementEnrichmentTUBB32.12
272Curry-jones syndromeEnrichmentSMO2.12
27346,xx sex reversal with dysgenesis of kidneys, adrenals, and lungsEnrichmentWNT42.12
274Schilbach-rott syndromeEnrichmentPTCH12.12
275Polydactyly, preaxial iEnrichmentGLI12.12
276Split-hand/foot malformation 6EnrichmentWNT10B2.12
277Macrothrombocytopenia, isolated, 1, autosomal dominantEnrichmentTUBB12.12
278Tooth agenesis, selective, 8EnrichmentWNT10B2.12
279Polydactyly, postaxial, type a8EnrichmentGLI12.12
280Joubert syndrome 32EnrichmentSUFU2.12
281Ovarian dysgenesis 2EnrichmentBMP152.12
282Diarrhea 9EnrichmentWNT2B2.12
283Microphthalmia, syndromic 6EnrichmentBMP42.12
284Orofacial cleft 11EnrichmentBMP42.12
285Bone mineral density quantitative trait locus 16EnrichmentWNT12.12
286Acrocapitofemoral dysplasiaEnrichmentIHH2.12
287Santos syndromeEnrichmentWNT7A2.12
288Cortical dysplasia, complex, with other brain malformations 7EnrichmentTUBB2B2.12
289Iron overloadEnrichmentBMP62.12
290Oocyte/zygote/embryo maturation arrest 23EnrichmentTUBA4A2.12
291Frontotemporal dementia and/or amyotrophic lateral sclerosis 9EnrichmentTUBA4A2.12
29220p12.3 microdeletion syndromeEnrichmentBMP22.12
293Facial palsy, congenital, with ptosis and velopharyngeal dysfunctionEnrichmentTUBB62.12
294Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1EnrichmentBMP22.12
295Menke-hennekam syndrome 1EnrichmentCREBBP2.12
296Ciliary dyskinesia, primary, 46EnrichmentSTK362.12
297Macrothrombocytopenia, isolated, 2, autosomal dominantEnrichmentTUBA82.12
298Immature teratoma of ovaryEnrichmentBMP152.12
299Congenital myopathy 26EnrichmentTUBA4A2.12
300Spastic ataxia 11, autosomal dominantEnrichmentTUBA4A2.12
301Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP2.12
302Amyotrophic lateral sclerosis type 22EnrichmentTUBA4A2.12
303Polymicrogyria with optic nerve hypoplasiaEnrichmentTUBA82.12
304Turner syndromeEnrichmentPTCH12.12
305Menke-hennekam syndromeEnrichmentCREBBP2.12
306Monosomy 9q22.3EnrichmentPTCH12.12
307Immune deficiency diseaseEnrichmentSYK2.01
308Chorea, benign hereditaryEnrichmentADCY52.01
309Spastic paraplegia 17, autosomal dominantEnrichmentGNG32.01
310Pseudohypoparathyroidism, type ibEnrichmentGNAS2.01
311Lipodystrophy, congenital generalized, type 2EnrichmentGNG32.01
312Carney complex variantEnrichmentPRKAR1A2.01
313Arrhythmogenic right ventricular dysplasia, familial, 10EnrichmentPRKAR1A2.01
314Familial sick sinus syndromeEnrichmentGNB22.01
315Spinocerebellar ataxia 29EnrichmentITPR12.01
316Timothy syndromeEnrichmentCACNA1C2.01
317Chromosome 5q12 deletion syndromeEnrichmentPDE4D2.01
318Cerebellar ataxia, neuropathy, and vestibular areflexia syndromeEnrichmentELF22.01
319Diarrhea 8, secretory sodium, congenitalEnrichmentSLC9A32.01
320Long qt syndrome 8EnrichmentCACNA1C2.01
321HypophosphatemiaEnrichmentNHERF12.01
322Ocular melanomaEnrichmentPLCB42.01
323Congenital disorder of glycosylation, type iw, autosomal dominantEnrichmentCACNA1D2.01
324Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movementsEnrichmentCACNA1B2.01
325Dominant hypophosphatemia with nephrolithiasis or osteoporosisEnrichmentNHERF12.01
326Macs syndromeEnrichmentPTCH1, WNT7B2.01
327Long qt syndromeEnrichmentCACNA1C, CACNA1S2.00
328Glomerulopathy with fibronectin deposits 2EnrichmentFN12.00
329Congenital stationary night blindnessEnrichmentGNAT1, GNB31.96
330Intellectual developmental disorder, x-linked, syndromic, raymond typeEnrichmentSPTAN11.96
331Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM11.96
332Deafness, autosomal dominant 20EnrichmentACTG11.96
333Baraitser-winter syndrome 2EnrichmentACTG11.96
334Long qt syndrome 14EnrichmentCALM11.96
335Genitourinary and/or brain malformation syndromeEnrichmentPPP1R12A1.96
336Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.96
337Congenital heart defects and skeletal malformations syndromeEnrichmentABL11.96
338Noonan syndrome-like disorder with loose anagen hairEnrichmentPPP1CB1.96
339Immune system diseaseEnrichmentCDC421.96
340Costello syndromeEnrichmentHRAS1.95
341Glycogen storage disease 0, liverEnrichmentGYS21.95
342Glycogen storage disease ixa1EnrichmentPHKA21.95
343Pulmonic stenosisEnrichmentBRAF1.95
344Encephalocraniocutaneous lipomatosisEnrichmentKRAS1.95
345Noonan syndrome 12EnrichmentRRAS21.95
346Glycogen storage disease 0, muscleEnrichmentGYS11.95
347Glycogen storage disorder due to hepatic glycogen synthase deficiencyEnrichmentGYS21.95
348Glycogen storage disease due to muscle and heart glycogen synthase deficiencyEnrichmentGYS11.95
349Glycogen storage disease viiiEnrichmentPHKA21.95
350Tafro syndromeEnrichmentMAP2K21.95
351Wooly hair nevusEnrichmentHRAS1.95
352Malignant hyperthermia 1EnrichmentRYR11.94
353Histiocytoma, angiomatoid fibrousEnrichmentCREB11.94
354Cardiomyopathy, dilated, 1pEnrichmentPLN1.94
355Cardiomyopathy, familial hypertrophic, 18EnrichmentPLN1.94
356Osteogenesis imperfecta, type xxiEnrichmentKDELR21.94
357King-denborough syndromeEnrichmentRYR11.94
358Exercise-induced malignant hyperthermiaEnrichmentRYR11.94
359Bladder cancerEnrichmentHRAS, KRAS1.93
360MicrophthalmiaEnrichmentPTCH1, WNT7B1.93
361Tooth agenesisEnrichmentWNT10A, WNT10B1.93
362Cone dystrophyEnrichmentGNAT2, GUCY2D1.93
363Tylosis with esophageal cancerEnrichmentRHBDF21.92
364Calcification of joints and arteriesEnrichmentNT5E1.92
365Granulomatous disease, chronic, autosomal recessive, 4EnrichmentCYBA1.92
366Ramon syndromeEnrichmentELMO21.92
367Thrombocytopenia 1EnrichmentWAS1.92
368Cinca syndromeEnrichmentNLRP31.92
369Deafness, autosomal dominant 17EnrichmentMYH91.92
370Keratoendotheliitis fugax hereditariaEnrichmentNLRP31.92
371Pyogenic sterile arthritis, pyoderma gangrenosum, and acneEnrichmentPSTPIP11.92
372Hemolytic uremic syndrome, atypical 5EnrichmentC31.92
373Familial cold autoinflammatory syndrome 1EnrichmentNLRP31.92
374GlutathionuriaEnrichmentGGT11.92
375Griscelli syndrome, type 1EnrichmentMYO5A1.92
376Wiskott-aldrich syndrome 2EnrichmentWIPF11.92
377Elejalde neuroectodermal melanolysosomal syndromeEnrichmentMYO5A1.92
378Muckle-wells syndromeEnrichmentNLRP31.92
379Neurodevelopmental disorder with absent language and variable seizuresEnrichmentWASF11.92
380Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemiaEnrichmentPSTPIP11.92
381Deafness, autosomal dominant 34, with or without inflammationEnrichmentNLRP31.92
382Immunodeficiency 71 with inflammatory disease and congenital thrombocytopeniaEnrichmentARPC1B1.92
383Vascular malformation, primary intraosseousEnrichmentELMO21.92
384Graft-versus-host diseaseEnrichmentIL101.92
385Isolated growth hormone deficiency type iiiEnrichmentBTK1.92
386Cerebral amyloid angiopathy, app-relatedEnrichmentAPP1.92
387Celiac disease 4EnrichmentMYO9B1.92
388Macular degeneration, age-related, 9EnrichmentC31.92
389Complement component 3 deficiency, autosomal recessiveEnrichmentC31.92
390Heme oxygenase 1 deficiencyEnrichmentHMOX11.92
391Was-related disordersEnrichmentWAS1.92
392Deficiency in anterior pituitary function - variable immunodeficiency syndromeEnrichmentNFKB21.92
393Primary intraosseous venous malformationEnrichmentELMO21.92
394Complement component 3 deficiencyEnrichmentC31.92
395Autosomal dominant nonsyndromic hearing loss 17EnrichmentMYH91.92
396Membranoproliferative glomerulonephritisEnrichmentC31.92
397Primary membranoproliferative glomerulonephritisEnrichmentC31.92
398Cryopyrin associated periodic syndromeEnrichmentNLRP31.92
399Familial amyloid nephropathy with urticaria and deafnessEnrichmentNLRP31.92
400Temporomandibular joint anomalyEnrichmentDOCK11.92
401OsteoporosisEnrichmentSRC1.91
402Brittle bone disorderEnrichmentBMP1, WNT11.89
403Non-immune hydrops fetalisEnrichmentHRAS, KRAS1.88
404Cutis marmorata telangiectatica congenitaEnrichmentGNA111.87
405Angioma, tuftedEnrichmentGNA141.87
406Autosomal dominant hypocalcemiaEnrichmentGNA111.87
407Isolated micronodular adrenocortical diseaseEnrichmentPDE8B1.87
408Hereditary ataxiaEnrichmentPRKCG1.86
409Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R51.86
410Vitamin d hydroxylation-deficient rickets, type 1bEnrichmentPDE3B1.86
411Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA1.86
412Epiphyseal chondrodysplasia, miura typeEnrichmentNPR21.86
413Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.86
414Acromesomelic dysplasia 1EnrichmentNPR21.86
415Metaphyseal anadysplasia 2EnrichmentMMP91.86
416Ectodermal dysplasia and immune deficiencyEnrichmentNFKBIA1.86
417Metaphyseal anadysplasiaEnrichmentMMP91.86
418Common variable immunodeficiency 12EnrichmentNFKB11.86
419Lung cancerEnrichmentBRAF, KRAS1.85
420Adrenocortical carcinomaEnrichmentPRKAR1A1.84
421Gillespie syndromeEnrichmentITPR11.84
422Diarrhea 3, secretory sodium, congenital, with or without other congenital anomaliesEnrichmentSLC9A31.84
423Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizuresEnrichmentCACNA1C1.84
424Thyrotoxic periodic paralysisEnrichmentCACNA1S1.84
425Tooth agenesis, selective, 4EnrichmentWNT10A1.82
426Pallister-hall-like syndromeEnrichmentSMO1.82
427Schopf-schulz-passarge syndromeEnrichmentWNT10A1.82
428Microcephaly and chorioretinopathy, autosomal recessive, 1EnrichmentTUBGCP61.82
429Thumb deformityEnrichmentCREBBP1.82
430Ulna and fibula, absence of, with severe limb deficiencyEnrichmentWNT7A1.82
431Bladder exstrophy and epispadias complexEnrichmentWNT31.82
432Odontoonychodermal dysplasiaEnrichmentWNT10A1.82
43346,xy gonadal dysgenesis with minifascicular neuropathyEnrichmentDHH1.82
434Tetraamelia syndrome 1EnrichmentWNT31.82
435Osteogenesis imperfecta, type xvEnrichmentWNT11.82
436Osteogenesis imperfecta, type xiiiEnrichmentBMP11.82
437Fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactylyEnrichmentWNT7A1.82
438Cortical dysplasia, complex, with other brain malformations 4EnrichmentTUBG11.82
439Cortical dysplasia, complex, with other brain malformations 15EnrichmentTUBGCP21.82
440Microcephaly and chorioretinopathy 1EnrichmentTUBGCP61.82
441Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP1.82
442Congenital fibrosarcomaEnrichmentSUFU1.82
443Cortical dysplasia, complex, with other brain malformations 1EnrichmentTUBB31.82
444Craniosynostosis 7EnrichmentBMP21.82
445Basal cell nevus syndrome 2EnrichmentSUFU1.82
446Postaxial polydactyly type bEnrichmentGLI11.82
447Bladder exstrophy-epispadias-cloacal exstrophy complexEnrichmentWNT31.82
448Commissural facial cleftEnrichmentPTCH21.82
449Breast cancerEnrichmentAKT1, GNG3, JUN1.82
450Cerebral palsyEnrichmentCACNA1C, GNB11.81
451Aortic aneurysm, familial thoracic 7EnrichmentMYLK1.78
452Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophyEnrichmentSPTBN11.78
453Short-rib thoracic dysplasia 11 with or without polydactylyEnrichmentSPTAN11.78
454T-cell acute lymphoblastic leukemiaEnrichmentABL11.78
455DystoniaEnrichmentCAMK2B, GNB11.78
456BrachydactylyEnrichmentGNAS1.77
457Ataxia-telangiectasiaEnrichmentBRAF1.77
458Glycogen storage disease ixbEnrichmentPHKB1.77
459Tethered spinal cord syndromeEnrichmentBRAF1.77
460SpermatocytomaEnrichmentHRAS1.77
461Lipodystrophy, familial partial, type 6EnrichmentLIPE1.76
462Lynch syndrome 5EnrichmentRYR11.76
463Bronchopulmonary dysplasiaEnrichmentRYR11.76
464Intrinsic cardiomyopathyEnrichmentPLN1.76
465Melanoma of soft tissueEnrichmentCREB11.76
466Spastic paraplegia 4, autosomal dominantEnrichmentGNAS1.71
467HypothyroidismEnrichmentGNB11.71
468Ventricular fibrillation, paroxysmal familial, 1EnrichmentCACNA1C1.71
469Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.71
470Spinocerebellar ataxia 15EnrichmentITPR11.71
471Developmental and epileptic encephalopathy 12EnrichmentPLCB11.71
472Malignant hyperthermiaEnrichmentCACNA1S1.71
473ThrombocytopeniaEnrichmentMYH9, SRC, WAS1.70
474Hirschsprung disease 1EnrichmentIHH, SMO1.70
475MalariaEnrichmentFCGR2A1.70
476Familial adult myoclonic epilepsyEnrichmentADRA2B1.69
477Vitamin d hydroxylation-deficient rickets, type 1aEnrichmentPDE3B1.69
478Nasopharyngeal carcinomaEnrichmentNFKBIA1.69
479Epilepsy, familial focal, with variable foci 2EnrichmentNPR21.69
480Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.69
481Immunodeficiency 14EnrichmentPIK3R11.69
482Polr3-related leukodystrophyEnrichmentGUCY2D1.69
483Leukemia, acute myeloidEnrichmentKRAS, NRAS1.67
484Megacystis-microcolon-intestinal hypoperistalsis syndrome 1EnrichmentMYLK1.66
485Retinitis pigmentosa 26EnrichmentITGA41.66
486Aminoacylase 1 deficiencyEnrichmentACTB1.66
487Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCDC421.66
488Charcot-marie-tooth hereditary neuropathyEnrichmentSPTAN11.66
489Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.66
490Brachydactyly, type a1EnrichmentIHH1.65
491Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentTUBB11.65
492Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomaliesEnrichmentWNT41.65
493Microphthalmia, syndromic 9EnrichmentWNT7B1.65
494Tooth agenesis, selective, 2EnrichmentWNT10A1.65
495Transposition of the great arteries, dextro-loopedEnrichmentBMP21.65
496Holoprosencephaly 7EnrichmentPTCH11.65
497Cortical dysplasia, complex, with other brain malformations 5EnrichmentTUBB2A1.65
498Intraocular pressure quantitative trait locusEnrichmentCREBBP1.65
499Desmoplastic/nodular medulloblastomaEnrichmentSUFU1.65
500Tetraamelia syndromeEnrichmentWNT31.65
501High bone mass osteogenesis imperfectaEnrichmentBMP11.65
502Colorectal cancerEnrichmentAKT1, BRAF, PIK3R11.65
503Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS1.65
504Thyroid cancer, nonmedullary, 1EnrichmentBRAF1.65
505Aland island eye diseaseEnrichmentPHKA21.65
506Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.65
507Lung sarcomatoid carcinomaEnrichmentKRAS1.65
508CraniopharyngiomaEnrichmentBRAF1.65
509Pilocytic astrocytomaEnrichmentKRAS1.65
510Newborn respiratory distress syndromeEnrichmentBRAF1.65
511Epidermolytic nevusEnrichmentHRAS1.65
512Congenital myopathy 1a, autosomal dominant, with malignant hyperthermiaEnrichmentRYR11.64
513Myopathy, centronuclear, 2EnrichmentRYR11.64
514Sacral defect with anterior meningoceleEnrichmentRYR11.64
515Intellectual developmental disorder, autosomal dominant 26EnrichmentRYR11.64
516Congenital myopathy 1aEnrichmentRYR11.64
517Cerebral amyloid angiopathy, cst3-relatedEnrichmentAPP1.62
518Familial mediterranean fever, autosomal dominantEnrichmentMEFV1.62
519Neutropenia, severe congenital, x-linkedEnrichmentWAS1.62
520Cataract 35EnrichmentMYH91.62
521Isolated growth hormone deficiency, type iii, with agammaglobulinemiaEnrichmentBTK1.62
522Griscelli syndrome, type 3EnrichmentMYO5A1.62
523Coenzyme q10 deficiency, primary, 6EnrichmentENTPD51.62
524Robinow syndrome, autosomal dominant 3EnrichmentDVL31.62
525Immunodeficiency, common variable, 10EnrichmentNFKB21.62
526Familial mediterranean feverEnrichmentMEFV1.62
527Developmental delay, language impairment, and ocular abnormalitiesEnrichmentARPC41.62
528Agammaglobulinemia, x-linkedEnrichmentBTK1.62
529Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA1.62
530Rela fusion-positive ependymomaEnrichmentRELA1.62
531Spastic paraplegia 64, autosomal recessiveEnrichmentENTPD11.62
532Inflammatory skin and bowel disease, neonatal, 1EnrichmentADAM171.62
533Pericardial effusionEnrichmentNLRP31.62
534Immunodeficiency 113 with autoimmunity and autoinflammationEnrichmentARPC51.62
535Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndromeEnrichmentMYH21.62
536Pseudosarcomatous fibromatosisEnrichmentMYH91.62
537Intermittent hydrarthrosisEnrichmentMEFV1.62
538Immunodeficiency 133EnrichmentARPC51.62
539Childhood-onset autosomal recessive myopathy with external ophthalmoplegiaEnrichmentMYH21.62
540Congenital nervous system abnormalityEnrichmentCAMK2B, GNAO1, GNB51.62
541Nervous system diseaseEnrichmentCAMK2B, GNAO1, GNB51.62
542Heart conduction diseaseEnrichmentCACNA1C1.62
543Sleep disorderEnrichmentSLC9A61.62
544Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG1, MYH9, MYO1C1.61
545Leukemia, acute lymphoblasticEnrichmentGNB11.58
546Myelodysplastic syndromeEnrichmentGNB11.58
547Visceral myopathy 1EnrichmentMYLK1.56
548Pervasive developmental disorderEnrichmentSPTBN11.56
549Coloboma of choroid and retinaEnrichmentACTG11.56
550Rare pervasive developmental disorderEnrichmentSPTBN11.56
551Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3R21.56
552Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentPIK3R21.56
553Short stature with nonspecific skeletal abnormalities 1EnrichmentNPR21.56
554Congenital generalized lipodystrophyEnrichmentFOS1.56
555Cystic fibrosisEnrichmentFCGR2A1.55
556Congenital myopathy 1b, autosomal recessiveEnrichmentRYR11.54
557Cardiac arrestEnrichmentPLN1.54
558Hypokalemic periodic paralysis, type 1EnrichmentCACNA1S1.54
559Spinocerebellar ataxia, autosomal recessive 16EnrichmentITPR11.54
560Brachydactyly, type a2EnrichmentBMP21.53
561Polydactyly, preaxial iiEnrichmentPTCH11.53
562Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentWNT10A1.53
563Microtia-anotiaEnrichmentBMP51.53
564Ectodermal dysplasiaEnrichmentWNT10A1.53
565Autosomal recessive chorioretinopathy-microcephaly syndromeEnrichmentTUBGCP61.53
566Oculomotor apraxiaEnrichmentSUFU1.53
567Acute promyelocytic leukemiaEnrichmentPRKAR1A1.51
568Hemihyperplasia, isolatedEnrichmentRHOA1.49
569Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM11.49
570Typical nemaline myopathyEnrichmentCFL21.49
571Autoinflammatory diseaseEnrichmentMEFV, NLRP31.48
572Wilms tumor 5EnrichmentBRAF1.47
573Breast adenocarcinomaEnrichmentKRAS1.47
574Lung squamous cell carcinomaEnrichmentKRAS1.47
575Systemic lupus erythematosusEnrichmentFCGR2A1.47
576Stroke, ischemicEnrichmentPRKCH1.47
577Alzheimer disease 2EnrichmentNOS31.47
578Choroidal dystrophy, central areolar, 1EnrichmentGUCY2D1.47
5793-methylglutaconic aciduria, type iiiEnrichmentGUCY2D1.47
580Convulsions, familial infantile, with paroxysmal choreoathetosisEnrichmentPDE2A1.47
581Night blindness, congenital stationary, type 1cEnrichmentGNAT11.47
582Pre-eclampsiaEnrichmentNOS31.47
583Histiocytoid hemangiomaEnrichmentFOS1.47
584Myopathy, centronuclear, 1EnrichmentRYR11.46
585Spastic ataxiaEnrichmentITPR1, SPTAN11.46
586Autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasiaEnrichmentCYBA1.45
587Agammaglobulinemia 1, autosomal recessiveEnrichmentBTK1.45
588Neutrophilic dermatosis, acute febrileEnrichmentMEFV1.45
589Developmental and epileptic encephalopathy 65EnrichmentCYFIP21.45
590Agammaglobulinemia 1EnrichmentBTK1.45
591Autoimmune polyendocrine syndrome type 1EnrichmentCYBA1.45
592Neonatal inflammatory skin and bowel diseaseEnrichmentADAM171.45
593Genetic atypical hemolytic-uremic syndromeEnrichmentC31.45
594Atrioventricular septal defectEnrichmentBMP51.43
595Chromosome 15q11.2 deletion syndromeEnrichmentTUBG11.43
596Congenital heart defects, multiple types, 4EnrichmentBMP71.43
597Autosomal recessive hypohidrotic ectodermal dysplasia syndromeEnrichmentWNT10A1.43
598Focal epilepsyEnrichmentSPTAN11.42
599Moyamoya angiopathyEnrichmentABL11.42
600B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentABL11.42
601MegacolonEnrichmentSLC8A11.41
602Klippel-trenaunay-weber syndromeEnrichmentGNAQ1.40
603Myeloma, multipleEnrichmentBRAF, KRAS1.40
604Cleft palate, isolatedEnrichmentGNB11.39
605Moyamoya disease 1EnrichmentGUCY1A11.39
606Neural tube defectsEnrichmentITGB11.37
607Inflammatory bowel disease 1EnrichmentPRKCQ1.37
608Developmental and epileptic encephalopathy 14EnrichmentPLCB11.37
609Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentCACNA1C1.37
610Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM11.36
611Atrial septal defect 1EnrichmentBMP21.35
612Rubinstein-taybi syndrome 1EnrichmentCREBBP1.35
613Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1EnrichmentTUBB2B1.35
614Anterior segment dysgenesis 5EnrichmentBMP41.35
615Renal dysplasia, cysticEnrichmentWNT9B1.35
616Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP1.35
617Renal hypoplasiaEnrichmentWNT9B1.35
618DiarrheaEnrichmentWNT2B1.35
619HypertrichosisEnrichmentCREBBP1.35
620Lymphoma, non-hodgkin, familialEnrichmentBRAF1.35
621Multiple pterygium syndrome, lethal typeEnrichmentRYR11.34
622Congenital muscular dystrophyEnrichmentRYR11.34
623Kaposi sarcomaEnrichmentIL61.33
624Acyl-coa dehydrogenase, very long-chain, deficiency ofEnrichmentDVL21.33
625Immunodeficiency, common variable, 1EnrichmentNFKB21.33
626Congenital myopathy 6 with ophthalmoplegiaEnrichmentMYH21.33
627Systemic-onset juvenile idiopathic arthritisEnrichmentIL61.33
628Paroxysmal dystoniaEnrichmentPDE2A1.32
629Overgrowth syndromeEnrichmentPIK3R11.32
630NephrolithiasisEnrichmentNHERF11.32
631Tracheoesophageal fistula with or without esophageal atresiaEnrichmentADD11.31
632Familial thoracic aortic aneurysm and dissectionEnrichmentMYLK1.31
633Cardiomyopathy, familial hypertrophic, 4EnrichmentBRAF1.30
634Ventricular septal defectEnrichmentBRAF1.30
635Arrhythmogenic right ventricular dysplasia, familial, 9EnrichmentPLN1.29
636Hydrops fetalisEnrichmentRYR11.29
637Polymicrogyria, bilateral perisylvian, x-linkedEnrichmentTUBB2B1.29
638Congenital hydrocephalusEnrichmentPTCH11.29
639Specific learning disabilityEnrichmentMAPK11.28
640Spermatogenic failure 5EnrichmentAKAP31.28
641Cat eye syndromeEnrichmentACTG11.27
642Isolated tracheo-esophageal fistulaEnrichmentADD11.27
643Leber congenital amaurosis 1EnrichmentGUCY2D1.27
644MelanomaEnrichmentBRAF1.26
645Cardiac conduction defectEnrichmentCACNA1C1.25
646Renal hypodysplasia/aplasia 1EnrichmentWNT9B1.23
647Isolated split hand-split foot malformationEnrichmentWNT10B1.23
648Hemolytic uremic syndrome, atypical 1EnrichmentC3AR11.23
649Rheumatoid arthritis, systemic juvenileEnrichmentIL61.23
650Deafness, autosomal recessive 63EnrichmentMYH91.23
651Cryptorchidism, unilateral or bilateralEnrichmentRXFP21.22
652Cowden syndromeEnrichmentAKT11.22
653Chromosome 1p36 deletion syndromeEnrichmentPRKCZ1.21
654Movement diseaseEnrichmentGNAO11.21
655StrabismusEnrichmentGNB11.20
656Congenital long qt syndromeEnrichmentITPR31.19
657Bilateral perisylvian polymicrogyriaEnrichmentTUBB2B1.18
658Renal agenesis, bilateralEnrichmentWNT9B1.18
659Multiple sclerosisEnrichmentITPR11.18
660Ciliary dyskinesia, primary, 3EnrichmentNFKB11.17
661AchromatopsiaEnrichmentGNAT21.17
662Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R11.17
663Type 1 diabetes mellitusEnrichmentIL61.16
664Hemangioma, capillary infantileEnrichmentMYH91.16
665Il10-related early-onset inflammatory bowel diseaseEnrichmentIL101.16
666Atypical hemolytic uremic syndrome with complement gene abnormalityEnrichmentC31.16
667Attention deficit-hyperactivity disorderEnrichmentGNB51.15
668Anterior segment dysgenesisEnrichmentITPR11.15
669Protein-deficiency anemiaEnrichmentNRAS1.15
670Peters-plus syndromeEnrichmentBMP41.14
671Stickler syndromeEnrichmentBMP41.14
672Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactylyEnrichmentRYR11.14
673ClubfootEnrichmentRYR11.14
674Aortic aneurysm, familial thoracic 1EnrichmentMYLK1.13
675Heart diseaseEnrichmentABL11.13
676Isolated macular dystrophyEnrichmentITGA41.13
677Dilated cardiomyopathyEnrichmentBRAF, RAF11.12
678Inherited cancer-predisposing syndromeEnrichmentPRKAR1A, PTCH1, SUFU1.11
679Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentPLN1.10
680Meningioma, familialEnrichmentSUFU1.10
68146,xy complete gonadal dysgenesisEnrichmentDHH1.10
682Alzheimer's disease 1EnrichmentAPP1.09
683Early-onset autosomal dominant alzheimer diseaseEnrichmentAPP1.09
684Wilms tumor 1EnrichmentBRAF1.09
685Lynch syndromeEnrichmentKRAS1.09
686Congenital myopathy 4a, autosomal dominantEnrichmentRYR11.08
687Heart, malformation ofEnrichmentMAPK11.08
688Pulmonary disease, chronic obstructiveEnrichmentPDE3B1.06
689Congenital hypothyroidismEnrichmentTUBB11.06
690Renal hypodysplasia/aplasia 3EnrichmentBMP41.06
69146 xx gonadal dysgenesisEnrichmentBMP151.06
692RhabdomyosarcomaEnrichmentHRAS1.06
693Congenital myopathyEnrichmentCACNA1S1.05
694Arrhythmogenic right ventricular cardiomyopathyEnrichmentRYR11.05
695Dandy-walker syndromeEnrichmentPPP1CB1.05
696Melanoma, cutaneous malignant 1EnrichmentBRAF1.03
697Osteogenesis imperfecta, type ivEnrichmentWNT11.03
698Chronic kidney diseaseEnrichmentWNT9B1.03
699Neuromuscular diseaseEnrichmentSPTAN11.02
700Centronuclear myopathyEnrichmentCACNA1S1.01
701Beckwith-wiedemann syndromeEnrichmentRYR11.00
702Early infantile developmental and epileptic encephalopathyEnrichmentGNAO11.00
703Esophageal atresia/tracheoesophageal fistulaEnrichmentADD11.00
704Cleft lip/palateEnrichmentBMP41.00
705Diffuse large b-cell lymphomaEnrichmentBRAF0.99
706Rheumatoid arthritisEnrichmentIL100.99
707Chronic granulomatous diseaseEnrichmentCYBA0.99
708Williams-beuren syndromeEnrichmentLIMK10.98
709GliosarcomaEnrichmentNFKBIA0.98
710Corpus callosum, agenesis ofEnrichmentCREBBP0.97
711Isolated corpus callosum agenesisEnrichmentCREBBP0.97
712Septopreoptic holoprosencephalyEnrichmentPTCH10.97
713Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP0.97
714Midline interhemispheric variant of holoprosencephalyEnrichmentPTCH10.97
715Cardiomyopathy, familial hypertrophic, 1EnrichmentCACNA1C0.96
716ScoliosisEnrichmentSLC9A60.96
717Alzheimer disease, familial, 1EnrichmentNOS30.95
718Giant cell glioblastomaEnrichmentNFKBIA0.95
719Primary ciliary dyskinesiaEnrichmentPRKAR1B, STK360.95
720Ovarian cancerEnrichmentKRAS, RRAS20.95
721Lobar holoprosencephalyEnrichmentPTCH10.94
722Leukemia, chronic lymphocyticEnrichmentP2RX70.94
723Jeune thoracic dystrophyEnrichmentGRK20.94
724Brugada syndromeEnrichmentCACNA1C0.92
725Precursor t-cell acute lymphoblastic leukemiaEnrichmentABL10.92
726Alobar holoprosencephalyEnrichmentPTCH10.92
727Complex neurodevelopmental disorderEnrichmentCACNA1C, GNB20.91
728Combined immunodeficiencyEnrichmentARPC1B0.90
729Combined t cell and b cell immunodeficiencyEnrichmentARPC1B0.90
730Combined t and b cell immunodeficiencyEnrichmentARPC1B0.90
731Familial atrial fibrillationEnrichmentMYL40.90
732Semilobar holoprosencephalyEnrichmentPTCH10.90
733Autism spectrum disorderEnrichmentGNB1, MAP2K10.90
734Asphyxiating thoracic dystrophyEnrichmentGRK20.89
735CraniosynostosisEnrichmentNPR20.89
736Pancreatic cancerEnrichmentKRAS0.88
737Nephrotic syndromeEnrichmentFN10.88
738Developmental and epileptic encephalopathy 1EnrichmentGNAO10.87
739Hydrops fetalis, nonimmuneEnrichmentHRAS0.86
740Myocardial infarctionEnrichmentGUCY1A10.85
741Non-syndromic male infertility due to sperm motility disorderEnrichmentAKAP40.84
742Alzheimer's diseaseEnrichmentAPP0.84
743Short-rib thoracic dysplasia 1 with or without polydactylyEnrichmentGRK20.83
744Atypical hemolytic-uremic syndromeEnrichmentC30.78
745Neuronal ceroid lipofuscinosisEnrichmentMEFV0.78
746Kidney diseaseEnrichmentMEFV0.78
747Familial hypertrophic cardiomyopathyEnrichmentMYL30.78
748CakutEnrichmentACTG10.76
749HypertensionEnrichmentMYH90.75
750Left ventricular noncompactionEnrichmentRAF10.74
751Developmental and epileptic encephalopathyEnrichmentSPTAN10.74
752Non-syndromic genetic deafnessEnrichmentACTG10.74
753Benign epilepsy with centrotemporal spikesEnrichmentPLCB10.74
754Centralopathic epilepsyEnrichmentPLCB10.72
755West syndromeEnrichmentPLCB10.71
756Fetal akinesia deformation sequence 1EnrichmentRYR10.71
757Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentADCY10.71
758Human immunodeficiency virus type 1EnrichmentIL100.71
759Isolated joubert syndromeEnrichmentSUFU0.69
760Hereditary spastic paraplegiaEnrichmentSPTAN10.68
761Nonsyndromic hearing lossEnrichmentACTG10.68
762MyopathyEnrichmentRYR10.68
763Hypertrophic cardiomyopathyEnrichmentMYL30.67
764Eye diseaseEnrichmentGNAT20.67
765Familial thoracic aortic aneurysm and aortic dissectionEnrichmentMYLK0.66
766Gastric cancerEnrichmentKRAS0.66
767Distal arthrogryposisEnrichmentRYR10.66
768Hereditary breast carcinomaEnrichmentKRAS0.65
769Multisystem inflammatory syndrome in childrenEnrichmentCD1630.63
770Undetermined early-onset epileptic encephalopathyEnrichmentCACNA1B0.62
771Rare genetic deafnessEnrichmentACTG1, MYH90.61
772Familial isolated dilated cardiomyopathyEnrichmentRAF10.58
773Optic atrophy plus syndromeEnrichmentGUCY2D0.58
774Hereditary breast ovarian cancer syndromeEnrichmentKRAS0.57
775Cone-rod dystrophy 2EnrichmentITGA40.50
776Hereditary retinal dystrophyEnrichmentGNAT1, GNAT2, GUCY2D0.49
777Fundus dystrophyEnrichmentGNAT1, GNAT2, GUCY2D0.49
778AutismEnrichmentCAMK2G0.47
779Primary ovarian insufficiencyEnrichmentNOS30.47
780Type 2 diabetes mellitusEnrichmentIL60.40
781Retinitis pigmentosaEnrichmentGNAT1, GUCY2D0.36
782Leber plus diseaseEnrichmentGUCY2D0.31
783Deafness, autosomal recessiveEnrichmentMYH90.27
784Autosomal recessive nonsyndromic deafnessEnrichmentMYH90.27

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