Alzheimer's disease and miRNA effects

No Pathway Network information available for Alzheimer's disease and miRNA effects

Pathways in the Alzheimer's disease and miRNA effects SuperPath

#NameSourceGenes
1Alzheimer's disease and miRNA effectsWikiPathways
(see all 267) (see less)
2Alzheimer's diseaseWikiPathways
(see all 262) (see less)

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

Disorders associated with Alzheimer's disease and miRNA effects SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Noonan syndrome and noonan-related syndromeEnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF18.28
2Lung non-small cell carcinomaEnrichmentBRAF, HRAS, KRAS, MAP2K1, NRAS, PIK3CA7.68
3Cardiofaciocutaneous syndrome 1EnrichmentBRAF, KRAS, MAP2K1, MAP2K26.87
4Robinow syndrome, autosomal dominant 1EnrichmentDVL1, DVL3, FZD2, WNT5A6.87
5Cardiofaciocutaneous syndromeEnrichmentBRAF, KRAS, MAP2K1, MAP2K26.87
6Autosomal dominant robinow syndromeEnrichmentDVL1, DVL3, FZD2, WNT5A6.87
7Noonan syndrome 1EnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF16.76
8RasopathyEnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF16.35
9Robinow syndrome, autosomal recessive 1EnrichmentDVL1, DVL3, FZD2, WNT5A6.17
10Autosomal recessive robinow syndromeEnrichmentDVL1, DVL3, FZD2, WNT5A5.70
11Breast adenocarcinomaEnrichmentAKT1, KRAS, PIK3CA, RB1CC15.70
12Alzheimer's diseaseEnrichmentAPOE, APP, MAPT, PSEN1, TNF5.53
13Nevus, epidermalEnrichmentHRAS, KRAS, NRAS, PIK3CA5.34
14Gallbladder cancerEnrichmentBRAF, CTNNB1, KRAS, PIK3CA5.34
15Langerhans cell histiocytosisEnrichmentBRAF, MAP2K1, NRAS5.15
16Osteoporosis, juvenileEnrichmentDKK1, WNT1, WNT3A5.15
17Alzheimer disease 4EnrichmentAPOE, PSEN1, PSEN25.15
18Tubulinopathy-associated dysgyriaEnrichmentTUBA1A, TUBB2B, TUBB35.15
19Melanocytic nevus syndrome, congenitalEnrichmentBRAF, HRAS, NRAS, RAF15.05
20Adult hepatocellular carcinomaEnrichmentAXIN1, CASP8, CTNNB1, PIK3CA4.80
21Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS4.55
22Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3CA, PIK3R24.55
23TubulinopathyEnrichmentTUBA1A, TUBB2A, TUBB2B4.55
24CraniopharyngiomaEnrichmentAPC, BRAF, CTNNB14.55
25LissencephalyEnrichmentTUBA1A, TUBA3E, TUBB, TUBB2B, TUBB34.39
26Colorectal cancerEnrichmentAKT1, APC, AXIN2, BRAF, CTNNB1, FZD3, NRAS, PIK3CA, PIK3R14.35
27Hepatocellular carcinomaEnrichmentAPC, AXIN1, CASP8, CTNNB1, PIK3CA4.28
28Robinow syndrome, autosomal dominant 2EnrichmentDVL1, DVL3, FZD24.16
29HemimegalencephalyEnrichmentAKT3, MTOR, PIK3CA4.16
30Congenital fibrosis of the extraocular musclesEnrichmentTUBA1A, TUBB2B, TUBB33.86
31Thyroid cancer, nonmedullary, 2EnrichmentBRAF, HRAS, NRAS3.63
32Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, MAP2K1, PIK3CA3.63
33Noonan syndrome 3EnrichmentHRAS, KRAS, RAF13.63
34Pilomyxoid astrocytomaEnrichmentBRAF, KRAS, RAF13.63
35Follicular thyroid carcinomaEnrichmentBRAF, HRAS, NRAS3.63
36Early-onset autosomal dominant alzheimer diseaseEnrichmentAPP, PSEN1, PSEN23.63
37Alzheimer disease, familial, 1EnrichmentAPOE, APP, MAPT, PSEN13.58
38Lung cancerEnrichmentBRAF, CASP8, FAS, KRAS, PIK3CA3.47
39Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM33.43
40Alzheimer disease 3EnrichmentAPOE, PSEN13.43
41Pick disease of brainEnrichmentMAPT, PSEN13.43
42Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS3.43
43Robinow syndrome, autosomal dominant 3EnrichmentDVL3, FZD23.43
44Arteriovenous malformationEnrichmentHRAS, MAP2K1, PIK3CA3.26
45Breast cancerEnrichmentAKT1, APC, CASP8, KLC1, KRAS, PIK3CA, RB1CC13.22
46Tooth agenesisEnrichmentAXIN2, LRP6, WNT10A, WNT10B3.12
47Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K1, PIK3CA3.11
48Desmoid disease, hereditaryEnrichmentAPC, CTNNB12.96
49Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R12.96
50Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R12.96
51Large congenital melanocytic nevusEnrichmentHRAS, NRAS2.96
52Desmoid tumorEnrichmentAPC, CTNNB12.96
53Immunodeficiency 14EnrichmentPIK3CD, PIK3R12.96
54Type 2 diabetes mellitusEnrichmentAKT2, IL6, INSR, IRS1, IRS22.91
55Lip and oral cavity carcinomaEnrichmentBRAF, HRAS, PIK3CA2.86
56Hereditary breast carcinomaEnrichmentAKT1, APC, KRAS, PIK3CA, RB1CC12.82
57Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R22.66
58Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS2.66
59Noonan syndrome with multiple lentiginesEnrichmentBRAF, RAF12.66
60Bladder cancerEnrichmentCTNNB1, HRAS, KRAS, PIK3CA2.66
61Differentiated thyroid carcinomaEnrichmentBRAF, HRAS, KRAS, NRAS2.66
62Long qt syndrome 1EnrichmentCALM1, CALM2, CALM3, ITPR32.60
63Capillary malformations, congenitalEnrichmentGNAQ, PIK3CA2.45
64Exudative vitreoretinopathy 1EnrichmentCTNNB1, LRP52.45
65DementiaEnrichmentMAPT, PSEN12.45
66Polycystic liver diseaseEnrichmentCTNNB1, LRP5, LRP62.40
67Autosomal dominant polycystic liver diseaseEnrichmentCTNNB1, LRP5, LRP62.40
68Klippel-trenaunay-weber syndromeEnrichmentGNAQ, PIK3CA2.28
69Melanoma, uvealEnrichmentGNAQ, PLCB42.28
70Type 1 diabetes mellitusEnrichmentIL6, INS2.28
71Lung squamous cell carcinomaEnrichmentKRAS, PIK3CA2.28
72Arteriovenous malformations of the brainEnrichmentBRAF, IL6, KRAS2.26
73Polymicrogyria, bilateral perisylvian, x-linkedEnrichmentTUBA1A, TUBB2B2.14
74Leukemia, chronic myeloidEnrichmentKRAS, NRAS2.14
75Semantic dementiaEnrichmentMAPT, PSEN12.14
76Overgrowth syndromeEnrichmentMTOR, PIK3R12.14
77Gastric cancerEnrichmentAPC, IL1B, KRAS, PIK3CA2.03
78Exudative vitreoretinopathyEnrichmentCTNNB1, LRP52.02
79Isolated split hand-split foot malformationEnrichmentSEM1, WNT10B2.02
80West syndromeEnrichmentCSNK1E, GRIN1, GRIN2B, TUBA1A2.00
81Bilateral perisylvian polymicrogyriaEnrichmentTUBA1A, TUBB2B1.91
82Progressive non-fluent aphasiaEnrichmentMAPT, PSEN11.91
83Cowden syndromeEnrichmentAKT1, PIK3CA1.91
84Behavioral variant of frontotemporal dementiaEnrichmentMAPT, PSEN11.91
85Ovarian cancerEnrichmentAKT1, APC, AXIN2, CTNNB1, KRAS, PIK3CA1.87
86PolymicrogyriaEnrichmentAKT3, PSMC31.82
87Autosomal dominant macrothrombocytopeniaEnrichmentTUBA8, TUBB11.82
88Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3CD, PIK3R11.82
89Autosomal dominant non-syndromic intellectual disabilityEnrichmentCSNK2B, GRIN1, GRIN2B, PPP3CA1.81
90Frontotemporal dementia 1EnrichmentMAPT, PSEN11.74
91Periodic fever, familial, autosomal dominantEnrichmentTNFRSF1A1.71
92Anhidrosis, isolated, with normal sweat glandsEnrichmentITPR21.71
93Chiari malformation type iEnrichmentDKK11.71
94MacrodactylyEnrichmentPIK3CA1.71
95Proteus syndromeEnrichmentAKT11.71
96Pyloric stenosis, infantile hypertrophic, 1EnrichmentNOS11.71
97Skin creases, congenital symmetric circumferential, 1EnrichmentTUBB1.71
98Endosteal hyperostosis, autosomal dominantEnrichmentLRP51.71
99Nail disorder, nonsyndromic congenital, 1EnrichmentFZD61.71
100Parkinson disease 1, autosomal dominantEnrichmentSNCA1.71
101Mullerian aplasia and hyperandrogenismEnrichmentWNT41.71
102Thyrotoxic periodic paralysis 1EnrichmentCACNA1S1.71
103Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT21.71
104Atrophoderma vermiculataEnrichmentLRP11.71
105Donohue syndromeEnrichmentINSR1.71
106Epilepsy, focal, with speech disorder and with or without impaired intellectual developmentEnrichmentGRIN2A1.71
107Hypothyroidism, congenital, nongoitrous, 9EnrichmentIRS41.71
108Sea-blue histiocyte diseaseEnrichmentAPOE1.71
109Hsd10 mitochondrial diseaseEnrichmentHSD17B101.71
110Oculoectodermal syndromeEnrichmentKRAS1.71
111Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvementEnrichmentTUBB31.71
112Pallister-killian syndromeEnrichmentARAF1.71
113Bone mineral density quantitative trait locus 1EnrichmentLRP51.71
114Exudative vitreoretinopathy 4EnrichmentLRP51.71
115Spastic paraplegia 10, autosomal dominantEnrichmentKIF5A1.71
116Hyperinsulinemic hypoglycemia, familial, 5EnrichmentINSR1.71
117Immunodeficiency 34EnrichmentCYBB1.71
118Oligodontia-colorectal cancer syndromeEnrichmentAXIN21.71
119Noonan syndrome 5EnrichmentRAF11.71
120Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalitiesEnrichmentINSR1.71
121Diabetes mellitus, insulin-resistant, with acanthosis nigricansEnrichmentINSR1.71
122Caspase 8 deficiencyEnrichmentCASP81.71
12346,xx sex reversal with dysgenesis of kidneys, adrenals, and lungsEnrichmentWNT41.71
124Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2EnrichmentSLC25A41.71
125Melorheostosis, isolatedEnrichmentMAP2K11.71
126Megalencephaly, autosomal dominantEnrichmentPIK3CA1.71
127Omodysplasia 2EnrichmentFZD21.71
128Noonan syndrome 7EnrichmentBRAF1.71
129Leopard syndrome 3EnrichmentBRAF1.71
130Acne inversa, familial, 1EnrichmentNCSTN1.71
131Lipoprotein glomerulopathyEnrichmentAPOE1.71
132Cardiomyopathy, dilated, 1nnEnrichmentRAF11.71
133Cowden syndrome 5EnrichmentPIK3CA1.71
134Cardiofaciocutaneous syndrome 3EnrichmentMAP2K11.71
135Keratosis pilaris atrophicansEnrichmentLRP11.71
136Split-hand/foot malformation 6EnrichmentWNT10B1.71
137Melanosis, neurocutaneousEnrichmentNRAS1.71
138Tooth agenesis, selective, 7EnrichmentLRP61.71
139Parkinson disease 4, autosomal dominantEnrichmentSNCA1.71
140Cortical dysplasia, complex, with other brain malformations 6EnrichmentTUBB1.71
141Spinocerebellar ataxia 43EnrichmentMME1.71
142Macrothrombocytopenia, isolated, 1, autosomal dominantEnrichmentTUBB11.71
143Caudal duplication anomalyEnrichmentAXIN11.71
144Noonan syndrome 6EnrichmentNRAS1.71
145Tooth agenesis, selective, 8EnrichmentWNT10B1.71
146Fetal encasement syndromeEnrichmentCHUK1.71
147Developmental and epileptic encephalopathy 27EnrichmentGRIN2B1.71
148Lissencephaly 7 with cerebellar hypoplasiaEnrichmentCDK51.71
149Sturge-weber syndromeEnrichmentGNAQ1.71
150Intellectual developmental disorder with short stature and variable skeletal anomaliesEnrichmentWIPI21.71
151Exudative vitreoretinopathy 8EnrichmentLRP61.71
152Mitochondrial dna depletion syndrome 12b , autosomal recessiveEnrichmentSLC25A41.71
153Cerebral cavernous malformations 4EnrichmentPIK3CA1.71
154Immunodeficiency 15bEnrichmentIKBKB1.71
155Pyle diseaseEnrichmentSFRP41.71
156Noonan syndrome 13EnrichmentMAPK11.71
157Spondylometaphyseal dysplasia with corneal dystrophyEnrichmentPLCB31.71
158Neurodevelopmental disorder with microcephaly, hypotonia, and absent languageEnrichmentPSMB11.71
159Leber congenital amaurosis with early-onset deafnessEnrichmentTUBB4B1.71
160Congenital myopathy 20EnrichmentRYR31.71
161Immunodeficiency 15aEnrichmentIKBKB1.71
162Charcot-marie-tooth disease, demyelinating, type 1jEnrichmentITPR31.71
163Congenital myopathy 18EnrichmentCACNA1S1.71
164Developmental and epileptic encephalopathy 91EnrichmentPPP3CA1.71
165Cortical dysplasia, complex, with other brain malformations 10EnrichmentAPC21.71
166Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual developmentEnrichmentPPP3CA1.71
167Leukoencephalopathy, developmental delay, and episodic neurologic regression syndromeEnrichmentEIF2AK21.71
168Short syndromeEnrichmentPIK3R11.71
169Stankiewicz-isidor syndromeEnrichmentPSMD121.71
170Diarrhea 9EnrichmentWNT2B1.71
171Parkinson-dementia syndromeEnrichmentMAPT1.71
172Auriculocondylar syndrome 2aEnrichmentPLCB41.71
173Cone-rod dystrophy, x-linked, 3EnrichmentCACNA1F1.71
174Oocyte/zygote/embryo maturation arrest 24EnrichmentTUBA1C1.71
175Supranuclear palsy, progressive, 1EnrichmentMAPT1.71
176Intellectual developmental disorder, autosomal recessive 74EnrichmentAPC21.71
177Cardiomyopathy, dilated, 1vEnrichmentPSEN21.71
178Mitochondrial dna depletion syndrome 12a , autosomal dominantEnrichmentSLC25A41.71
179Osteoporosis-pseudoglioma syndromeEnrichmentLRP51.71
180Myoclonus, intractable, neonatalEnrichmentKIF5A1.71
181Syndromic x-linked intellectual disability type 10EnrichmentHSD17B101.71
182Coronary artery disease, autosomal dominant 2EnrichmentLRP61.71
183Bone mineral density quantitative trait locus 16EnrichmentWNT11.71
184Cardiofaciocutaneous syndrome 2EnrichmentKRAS1.71
185Primary aldosteronism, seizures, and neurologic abnormalitiesEnrichmentCACNA1D1.71
186Deafness, cataract, impaired intellectual development, and polyneuropathyEnrichmentPSMC31.71
187Alzheimer disease 18EnrichmentADAM101.71
188Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT31.71
189LymphangiomaEnrichmentBRAF1.71
190Thrombocytopenia 4EnrichmentCYCS1.71
191Progressive supranuclear palsyEnrichmentMAPT1.71
192Hemifacial myohyperplasiaEnrichmentPIK3CA1.71
193Major affective disorder 7EnrichmentXBP11.71
194Malignant hyperthermia 5EnrichmentCACNA1S1.71
195Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessiveEnrichmentGRIN11.71
196Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA1.71
197Polycystic liver disease 4 with or without kidney cystsEnrichmentLRP51.71
198Phace associationEnrichmentBRAF1.71
199Amyotrophic lateral sclerosis 25EnrichmentKIF5A1.71
200Cerebral amyloid angiopathy, app-relatedEnrichmentAPP1.71
201Santos syndromeEnrichmentWNT7A1.71
202MelorheostosisEnrichmentMAP2K11.71
203Cortical dysplasia, complex, with other brain malformations 7EnrichmentTUBB2B1.71
204Cardiomyopathy, dilated, 1uEnrichmentPSEN11.71
205Leopard syndrome 2EnrichmentRAF11.71
206Intellectual developmental disorder, autosomal dominant 6, with or without seizuresEnrichmentGRIN2B1.71
207Sinoatrial node dysfunction and deafnessEnrichmentCACNA1D1.71
208Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R11.71
209Multiple sclerosis 5EnrichmentTNFRSF1A1.71
210Cardiofaciocutaneous syndrome 4EnrichmentMAP2K21.71
211Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunctionEnrichmentFADD1.71
212Long qt syndrome 16EnrichmentCALM31.71
213Cowden syndrome 6EnrichmentAKT11.71
214Oocyte/zygote/embryo maturation arrest 23EnrichmentTUBA4A1.71
215Cortical dysplasia, complex, with other brain malformations 2EnrichmentKIF5C1.71
216Reticulate acropigmentation of kitamuraEnrichmentADAM101.71
217Frontotemporal dementia and/or amyotrophic lateral sclerosis 9EnrichmentTUBA4A1.71
218Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD1.71
219Achromatopsia 7EnrichmentATF61.71
220Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R11.71
221Microphthalmia/coloboma 11EnrichmentFZD51.71
222Acne inversa, familial, 2, with or without dowling-degos diseaseEnrichmentPSENEN1.71
223Developmental and epileptic encephalopathy 101EnrichmentGRIN11.71
224Mitochondrial metabolism diseaseEnrichmentSLC25A41.71
225Acne inversa, familial, 3EnrichmentPSEN11.71
226Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominantEnrichmentGRIN11.71
227Tnf receptor-associated periodic fever syndromeEnrichmentTNFRSF1A1.71
228Facial palsy, congenital, with ptosis and velopharyngeal dysfunctionEnrichmentTUBB61.71
229Okur-chung neurodevelopmental syndromeEnrichmentCSNK2A11.71
230Bartsocas-papas syndrome 2EnrichmentCHUK1.71
231Dystonia 33EnrichmentEIF2AK21.71
232Classic progressive supranuclear palsy syndromeEnrichmentMAPT1.71
233TrigonitisEnrichmentRAF11.71
234Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA1.71
235Auriculocondylar syndrome 2bEnrichmentPLCB41.71
236Sotos syndrome 3EnrichmentAPC21.71
237Craniometadiaphyseal osteosclerosis with hip dysplasiaEnrichmentAXIN11.71
238Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunizationEnrichmentMME1.71
239Macrothrombocytopenia, isolated, 2, autosomal dominantEnrichmentTUBA81.71
240Adenoid ameloblastomaEnrichmentCTNNB11.71
241Long qt syndrome 15EnrichmentCALM21.71
242Lissencephaly due to tuba1a mutationEnrichmentTUBA1A1.71
243Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasiaEnrichmentNAE11.71
244Congenital myopathy 26EnrichmentTUBA4A1.71
245Spastic ataxia 11, autosomal dominantEnrichmentTUBA4A1.71
246Atypical progressive supranuclear palsy syndromeEnrichmentMAPT1.71
247Amyotrophic lateral sclerosis type 22EnrichmentTUBA4A1.71
248HypospadiasEnrichmentPIK3CA1.71
249Craniodigital syndrome and intellectual disability syndromeEnrichmentCSNK2B1.71
250Lrp5-related primary osteoporosisEnrichmentLRP51.71
251Capillary hemangiomaEnrichmentAKT31.71
252Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathyEnrichmentITPR31.71
253Charcot-marie-tooth disease type 2tEnrichmentMME1.71
254Neurodegeneration, early-childhood-onset, with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathyEnrichmentKLC41.71
255Mme-related autosomal dominant charcot marie tooth disease type 2EnrichmentMME1.71
256Rhabdomyolysis 2EnrichmentATP2A21.71
257Grin2b-related neurodevelopmental disorderEnrichmentGRIN2B1.71
258Landau-kleffner syndromeEnrichmentGRIN2A1.71
259Congenital pulmonary airway malformationEnrichmentKRAS1.71
260Polymicrogyria with optic nerve hypoplasiaEnrichmentTUBA81.71
261Rare venous malformationEnrichmentPIK3CA1.71
262Familial adenomatous polyposisEnrichmentAPC1.71
263Diaphragmatic eventrationEnrichmentPIK3CA1.71
264Pik3ca-related overgrowth spectrumEnrichmentPIK3CA1.71
265Syringocystadenoma papilliferumEnrichmentBRAF1.71
266Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK1.71
267Aldosterone-producing adenoma with seizures and neurological abnormalitiesEnrichmentCACNA1D1.71
268Rare combined vascular malformationEnrichmentPIK3CA1.71
269GangliogliomaEnrichmentBRAF1.71
270Cavernous lymphangiomaEnrichmentPIK3CA1.71
271Intellectual disability, autosomal dominant 8EnrichmentGRIN11.71
272Pik3ca-related overgrowth syndromeEnrichmentPIK3CA1.71
273Nongerminomatous germ cell tumorEnrichmentBRAF1.71
274Early-onset epileptic encephalopathy and intellectual disability due to grin2a mutationEnrichmentGRIN2A1.71
275Grin2a-related disordersEnrichmentGRIN2A1.71
276Phace syndromeEnrichmentBRAF1.71
277Gardner syndromeEnrichmentAPC1.71
278Osteosclerosis-developmental delay-craniosynostosis syndromeEnrichmentLRP51.71
2795q22 microdeletion syndromeEnrichmentAPC1.71
280Phakomatosis pigmentokeratoticaEnrichmentHRAS1.71
281Pash syndromeEnrichmentNCSTN1.71
282Periodic paralysis with transient compartment-like syndromeEnrichmentCACNA1S1.71
283Attenuated familial adenomatous polyposisEnrichmentAPC1.71
284Huntington's disease-likeEnrichmentPSEN21.71
285Autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutationEnrichmentKIF5A1.71
286Classic hairy cell leukemiaEnrichmentBRAF1.71
287Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA1.71
288Eccrine angiomatous hamartomaEnrichmentPIK3CA1.71
289Macrodactyly of toeEnrichmentPIK3CA1.71
290Neurocutaneous melanocytosisEnrichmentNRAS1.71
291Microcystic stromal tumorEnrichmentCTNNB11.71
292Akt2-related familial partial lipodystrophyEnrichmentAKT21.71
293Long qt syndromeEnrichmentCACNA1S, CALM1, CALM21.67
294Non-immune hydrops fetalisEnrichmentFZD6, HRAS, KRAS1.67
295Juvenile myelomonocytic leukemiaEnrichmentKRAS, NRAS1.67
296MeningiomaEnrichmentAKT1, PIK3CA1.67
297Multiple sclerosisEnrichmentITPR1, TNFRSF1A1.54
298OsteoporosisEnrichmentLRP5, WNT11.54
299MedulloblastomaEnrichmentAPC, CTNNB11.54
300Lung cancer susceptibility 3EnrichmentBRAF, KRAS1.54
301MyopiaEnrichmentCACNA1F, SLC25A41.48
302Lynch syndromeEnrichmentKRAS, PIK3CA1.48
303Spinocerebellar ataxia 29EnrichmentITPR11.42
304Cerebral amyloid angiopathy, cst3-relatedEnrichmentAPP1.42
305Dystonia 4, torsion, autosomal dominantEnrichmentTUBB4A1.42
306Acrokeratosis verruciformisEnrichmentATP2A21.42
307Tooth agenesis, selective, 4EnrichmentWNT10A1.42
308Costello syndromeEnrichmentHRAS1.42
309Hyperlipoproteinemia, type iEnrichmentLPL1.42
310Van buchem diseaseEnrichmentLRP51.42
311Epiphyseal dysplasia, multiple, with early-onset diabetes mellitusEnrichmentEIF2AK31.42
312Schopf-schulz-passarge syndromeEnrichmentWNT10A1.42
313Ulna and fibula, absence of, with severe limb deficiencyEnrichmentWNT7A1.42
314Bladder exstrophy and epispadias complexEnrichmentWNT31.42
315Osteopathia striata with cranial sclerosisEnrichmentCTNNB11.42
316Brody diseaseEnrichmentATP2A11.42
317Night blindness, congenital stationary, type 2aEnrichmentCACNA1F1.42
318Odontoonychodermal dysplasiaEnrichmentWNT10A1.42
319Pulmonic stenosisEnrichmentBRAF1.42
320Tetraamelia syndrome 1EnrichmentWNT31.42
321Spastic paraplegia, optic atrophy, and neuropathyEnrichmentKLC21.42
322Hyperinsulinemic hypoglycemia, familial, 4EnrichmentINSR1.42
323Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM11.42
324Keratosis, seborrheicEnrichmentPIK3CA1.42
325Osteogenesis imperfecta, type xvEnrichmentWNT11.42
326Melanoma, cutaneous malignant 6EnrichmentKLC11.42
327Encephalocraniocutaneous lipomatosisEnrichmentKRAS1.42
328Roifman-chitayat syndromeEnrichmentPIK3CD1.42
329Lipase deficiency, combinedEnrichmentLPL1.42
330Maturity-onset diabetes of the young, type 10EnrichmentINS1.42
331Muscular dystrophy, limb-girdle, autosomal recessive 3EnrichmentTUBA1A1.42
332Noonan syndrome 8EnrichmentPIK3CA1.42
333Fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactylyEnrichmentWNT7A1.42
334Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.42
335Spastic paraplegia 76, autosomal recessiveEnrichmentCAPN11.42
336Albinism, oculocutaneous, type iaEnrichmentNOX41.42
337Long qt syndrome 14EnrichmentCALM11.42
338HyperproinsulinemiaEnrichmentINS1.42
339Developmental dysplasia of the hip 3EnrichmentLRP11.42
340Birk-aharoni syndromeEnrichmentPSMC11.42
341Microcephaly 21, primary, autosomal recessiveEnrichmentGAPDH1.42
342Poirier-bienvenu neurodevelopmental syndromeEnrichmentCSNK2B1.42
343Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA1.42
344Cebalid syndromeEnrichmentMTOR1.42
345Keratoconus 9EnrichmentTUBA3D1.42
346Hyperlipoproteinemia, type iiiEnrichmentAPOE1.42
347Proteasome-associated autoinflammatory syndrome 3EnrichmentPSMB41.42
348Autosomal recessive limb-girdle muscular dystrophy type 2dEnrichmentTUBA1A1.42
349Parkinson disease 15, autosomal recessive early-onsetEnrichmentSNCA1.42
350Immunodeficiency 127EnrichmentTNF1.42
351Childhood hepatocellular carcinomaEnrichmentCTNNB11.42
352Rela fusion-positive ependymomaEnrichmentRELA1.42
353Bilateral generalized polymicrogyriaEnrichmentGRIN11.42
354Lissencephaly 3EnrichmentTUBA1A1.42
355Intellectual developmental disorder, autosomal dominant 21EnrichmentGRIN2A1.42
356Senior-loken syndrome 7EnrichmentAKT31.42
357Developmental and epileptic encephalopathy 46EnrichmentGRIN2D1.42
358Rosette-forming glioneuronal tumorEnrichmentPIK3CA1.42
359Frontotemporal dementia and/or amyotrophic lateral sclerosis 4EnrichmentKIF5A1.42
360Chromosome 15q13.3 deletion syndromeEnrichmentCHRNA71.42
361Ocular melanomaEnrichmentPLCB41.42
362Diabetes mellitus, permanent neonatal, 4EnrichmentINS1.42
363Inflammatory skin and bowel disease, neonatal, 1EnrichmentADAM171.42
364Cortical dysplasia, complex, with other brain malformations 1EnrichmentTUBB31.42
365Periampullary adenomaEnrichmentAPC1.42
366Familial lipoprotein lipase deficiencyEnrichmentLPL1.42
367Gastric adenocarcinoma and proximal polyposis of the stomachEnrichmentAPC1.42
368Immune system diseaseEnrichmentPIK3CD1.42
369Bardet-biedl syndrome 16EnrichmentAKT31.42
370Congenital disorder of glycosylation, type iw, autosomal dominantEnrichmentCACNA1D1.42
371Smith-kingsmore syndromeEnrichmentMTOR1.42
37217q24.2 microdeletion syndromeEnrichmentPSMD121.42
373Charcot-marie-tooth disease, axonal, type 2tEnrichmentMME1.42
374Torsion dystonia 4EnrichmentTUBB4A1.42
375Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB11.42
376Multiple benign circumferential skin creases on limbsEnrichmentTUBB1.42
377Intermittent hydrarthrosisEnrichmentTNFRSF1A1.42
378Demyelinating polyneuropathyEnrichmentKIF5A1.42
379Rolandic epilepsy-speech dyspraxia syndromeEnrichmentGRIN2A1.42
380TeratomaEnrichmentCTNNB11.42
381OsteosclerosisEnrichmentLRP51.42
382Bladder exstrophy-epispadias-cloacal exstrophy complexEnrichmentWNT31.42
383Common variable immunodeficiency 12EnrichmentNFKB11.42
384Skeletal muscle diseaseEnrichmentKIF5B1.42
385Tafro syndromeEnrichmentMAP2K21.42
386Continuous spikes and waves during sleepEnrichmentTUBA1A1.42
387Oculootodental syndromeEnrichmentFADD1.42
388Epilepsy-aphasia spectrumEnrichmentGRIN2A1.42
389Phakomatosis cesioflammeaEnrichmentGNAQ1.42
390Wooly hair nevusEnrichmentHRAS1.42
391Cerebral palsyEnrichmentGRIN2B, TUBA1A, TUBB4A1.41
392Dandy-walker syndromeEnrichmentBRAF, TUBA1A1.38
393Behcet syndromeEnrichmentFAS, TNFRSF1A1.29
394Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentKIF5A, MME1.29
395Darier-white diseaseEnrichmentATP2A21.25
396Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentTUBB11.25
397Type 1 diabetes mellitus 2EnrichmentINS1.25
398Prognathism, mandibularEnrichmentCSNK2B1.25
399Ataxia-telangiectasiaEnrichmentBRAF1.25
400Proteasome-associated autoinflammatory syndrome 1EnrichmentPSMB41.25
401Gillespie syndromeEnrichmentITPR11.25
402Sengers syndromeEnrichmentSLC25A41.25
403Pompe disease, infantile-onsetEnrichmentPIK3CA1.25
404Niemann-pick disease, type aEnrichmentAPBB11.25
405Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomaliesEnrichmentWNT41.25
406Microphthalmia, syndromic 9EnrichmentWNT7B1.25
407Menkes diseaseEnrichmentEIF2AK31.25
408Tooth agenesis, selective, 2EnrichmentWNT10A1.25
409Osteopetrosis, autosomal dominant 1EnrichmentLRP51.25
410Psoriatic arthritisEnrichmentTNF1.25
411Niemann-pick disease, type bEnrichmentAPBB11.25
412Leukodystrophy, hypomyelinating, 6EnrichmentTUBB4A1.25
413Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.25
414Cenani-lenz syndactyly syndromeEnrichmentAPC1.25
415Oocyte/zygote/embryo maturation arrest 2EnrichmentTUBB81.25
416Anus, imperforateEnrichmentCTNNB11.25
417Cortical dysplasia, complex, with other brain malformations 5EnrichmentTUBB2A1.25
418Exudative vitreoretinopathy 7EnrichmentCTNNB11.25
419Auditory neuropathy and optic atrophyEnrichmentGRIN2C1.25
420Keratosis follicularis spinulosa decalvansEnrichmentLRP11.25
421Tethered spinal cord syndromeEnrichmentBRAF1.25
422Torsion dystonia 1EnrichmentEIF2AK21.25
423Proteosome-associated autoinflammatory syndromeEnrichmentPSMB41.25
424Nail diseaseEnrichmentFZD61.25
425Myxoid liposarcomaEnrichmentDDIT31.25
426Migraine without auraEnrichmentTNF1.25
427SpermatocytomaEnrichmentHRAS1.25
428Tetraamelia syndromeEnrichmentWNT31.25
429Colon adenocarcinomaEnrichmentAPC1.25
430Neonatal inflammatory skin and bowel diseaseEnrichmentADAM171.25
431Anastomosing haemangiomaEnrichmentGNAQ1.25
432Thyrotoxic periodic paralysisEnrichmentCACNA1S1.25
433Thyroid hemiagenesisEnrichmentPSMD31.25
434KeratoacanthomaEnrichmentPIK3CA1.25
435Vogt-koyanagi-harada diseaseEnrichmentFAS1.25
436Apc-associated polyposis conditionsEnrichmentAPC1.25
437HepatoblastomaEnrichmentAPC, CTNNB11.21
438Brittle bone disorderEnrichmentLRP5, WNT11.14
439MalariaEnrichmentNOS2, TNF1.14
440Kaposi sarcomaEnrichmentIL61.12
441Dowling-degos disease 1EnrichmentADAM101.12
442Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS1.12
443Acyl-coa dehydrogenase, very long-chain, deficiency ofEnrichmentDVL21.12
444Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentWNT10A1.12
445Granulomatous disease, chronic, x-linkedEnrichmentCYBB1.12
446Thyroid cancer, nonmedullary, 1EnrichmentBRAF1.12
447AstigmatismEnrichmentGRIN2B1.12
448Macular degeneration, age-related, 1EnrichmentAPOE1.12
449Autoimmune lymphoproliferative syndromeEnrichmentFAS1.12
450Amyotrophy, monomelicEnrichmentRYR31.12
451Aland island eye diseaseEnrichmentCACNA1F1.12
452Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.12
453Auriculocondylar syndrome 1EnrichmentPLCB41.12
454Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.12
455Focal cortical dysplasia, type iiEnrichmentMTOR1.12
456PilomatrixomaEnrichmentCTNNB11.12
457Spinocerebellar ataxia 15EnrichmentITPR11.12
458Alazami syndromeEnrichmentCTNNB11.12
459EnophthalmosEnrichmentCSNK2B1.12
460SyndactylyEnrichmentCSNK2B1.12
461Neonatal diabetes mellitusEnrichmentINS1.12
462Dowling-degos diseaseEnrichmentPSENEN1.12
463Lung sarcomatoid carcinomaEnrichmentKRAS1.12
464Orofacial cleftEnrichmentLRP61.12
465Ectodermal dysplasiaEnrichmentWNT10A1.12
466Retinopathy of prematurityEnrichmentLRP51.12
467Cerebrovascular diseaseEnrichmentPIK3CA1.12
468Pilocytic astrocytomaEnrichmentKRAS1.12
469Newborn respiratory distress syndromeEnrichmentBRAF1.12
470Epidermolytic nevusEnrichmentHRAS1.12
471Idiopathic achalasiaEnrichmentNOS11.12
472Malignant hyperthermiaEnrichmentCACNA1S1.12
473Familial cerebral cavernous malformationsEnrichmentPIK3CA1.12
474Eyelid colobomaEnrichmentFZD51.12
475Coronary artery anomalyEnrichmentLPL1.12
476Cerebral malariaEnrichmentTNF1.12
477Systemic-onset juvenile idiopathic arthritisEnrichmentIL61.12
478Isolated focal cortical dysplasia type iiEnrichmentMTOR1.12
479VitreoretinopathyEnrichmentLRP51.12
480Orofacial clefting syndromeEnrichmentLRP61.12
481Lens colobomaEnrichmentFZD51.12
482Parkinson disease, late-onsetEnrichmentMAPT, SNCA1.11
483Familial isolated dilated cardiomyopathyEnrichmentPSEN1, PSEN2, RAF11.08
484Developmental and epileptic encephalopathy 1EnrichmentCSNK1E, GRIN11.08
485Hydrops fetalis, nonimmuneEnrichmentFZD6, HRAS1.05
486Auditory neuropathyEnrichmentKIF5A, TUBB4A1.05
487MicrocephalyEnrichmentCTNNB1, GRIN2B, MAPK1, PSMC3, TUBB4A1.05
488Alzheimer disease 2EnrichmentAPOE1.03
489Sotos syndromeEnrichmentAPC21.03
490Hyperlipidemia, familial combined, 3EnrichmentLPL1.03
491Dementia, lewy bodyEnrichmentSNCA1.03
492Niemann-pick disease, type c1EnrichmentAPBB11.03
493Kearns-sayre syndromeEnrichmentKIF5B1.03
494Rheumatoid arthritis, systemic juvenileEnrichmentIL61.03
495Familial adenomatous polyposis 1EnrichmentAPC1.03
496AmblyopiaEnrichmentCACNA1F1.03
497Niemann-pick diseaseEnrichmentAPBB11.03
4982q23.1 microduplication syndromeEnrichmentKIF5C1.03
499Vascular dementiaEnrichmentTNF1.03
500Autosomal recessive hypohidrotic ectodermal dysplasia syndromeEnrichmentWNT10A1.03
501Autosomal thrombocytopenia with normal plateletsEnrichmentCYCS1.03
502Female infertility due to oocyte meiotic arrestEnrichmentTUBB81.03
503Coloboma of choroid and retinaEnrichmentFZD51.03
504Sleep disorderEnrichmentGRIN2B1.03
505Myeloma, multipleEnrichmentBRAF, KRAS, PIK3R21.03
506Developmental dysplasia of the hip 1EnrichmentPSMC30.96
507Coloboma of optic nerveEnrichmentFZD50.96
508Hypokalemic periodic paralysis, type 1EnrichmentCACNA1S0.96
509Cowden syndrome 1EnrichmentPIK3CA0.96
510Weyers acrofacial dysostosisEnrichmentCTNNB10.96
511Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1EnrichmentSLC25A40.96
512Telangiectasia, hereditary hemorrhagic, type 1EnrichmentPSEN10.96
513Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1EnrichmentTUBB2B0.96
514Hemihyperplasia, isolatedEnrichmentPIK3CA0.96
515Wilms tumor 5EnrichmentBRAF0.96
516Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM10.96
517Spinocerebellar ataxia, autosomal recessive 16EnrichmentITPR10.96
518DiarrheaEnrichmentWNT2B0.96
519Lipid metabolism disorderEnrichmentAPOE0.96
520Patent ductus arteriosusEnrichmentPSMC30.96
521Adrenocortical carcinomaEnrichmentCTNNB10.96
522Early myoclonic encephalopathyEnrichmentTUBA1A0.96
52346,xy disorder of sex developmentEnrichmentINSR0.96
524Multicystic kidney dysplasiaEnrichmentFZD30.96
525Multicystic dysplastic kidneyEnrichmentFZD30.96
526Peripheral nervous system diseaseEnrichmentKIF5A, MME0.90
527NeuropathyEnrichmentKIF5A, MME0.90
528Renal cell carcinoma, papillary, 1EnrichmentMTOR0.89
529Alzheimer's disease 1EnrichmentAPP0.89
530MegacolonEnrichmentAKT30.89
531Common variable immunodeficiencyEnrichmentNFKB10.89
532Lymphoma, non-hodgkin, familialEnrichmentBRAF0.84
533Lennox-gastaut syndromeEnrichmentMAPK100.84
534CryptorchidismEnrichmentTUBA1A0.84
535Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM10.84
536Permanent neonatal diabetes mellitusEnrichmentINS0.84
537Congenital nervous system abnormalityEnrichmentCTNNB1, PSEN1, TUBA1A, TUBB4A0.83
538Nervous system diseaseEnrichmentCTNNB1, PSEN1, TUBA1A, TUBB4A0.83
539Autism spectrum disorderEnrichmentCSNK2A1, CSNK2B, GRIN2B, MAP2K10.80
540Tooth agenesis, selective, 1EnrichmentAXIN20.79
541Cardiomyopathy, familial hypertrophic, 4EnrichmentBRAF0.79
542Tracheoesophageal fistula with or without esophageal atresiaEnrichmentAPC20.79
543Charge syndromeEnrichmentTNFRSF1A0.79
544Cryptorchidism, unilateral or bilateralEnrichmentTUBA1A0.79
545Inflammatory bowel disease 1EnrichmentIL60.79
546Chronic granulomatous diseaseEnrichmentCYBB0.79
547Primary hyperaldosteronismEnrichmentBRAF0.79
548Ventricular septal defectEnrichmentBRAF0.79
549Colonic benign neoplasmEnrichmentAPC0.79
550Hydrops fetalisEnrichmentRYR30.79
551Cat eye syndromeEnrichmentFZD50.75
552Ciliary dyskinesia, primary, 3EnrichmentNFKB10.75
553MelanomaEnrichmentBRAF0.75
554AchromatopsiaEnrichmentATF60.75
555Isolated tracheo-esophageal fistulaEnrichmentAPC20.75
556Leukemia, acute myeloidEnrichmentKRAS, NRAS0.74
557EpilepsyEnrichmentGRIN2A, GRIN2B0.74
558Benign epilepsy with centrotemporal spikesEnrichmentGRIN1, GRIN2A0.73
559AsthmaEnrichmentTNF0.71
560Diabetes mellitusEnrichmentINS0.71
561Mitochondrial myopathyEnrichmentSLC25A40.71
562Specific learning disabilityEnrichmentMAPK10.71
563Dilated cardiomyopathyEnrichmentBRAF, KIF5B, RAF10.70
564Centralopathic epilepsyEnrichmentGRIN1, GRIN2A0.70
565Hypertrophic cardiomyopathyEnrichmentKIF5B, SLC25A40.70
566Optic atrophy plus syndromeEnrichmentCACNA1F, TUBB60.68
567Congenital hypothyroidismEnrichmentTUBB10.68
568Early-onset parkinson's diseaseEnrichmentSNCA0.68
569Congenital long qt syndromeEnrichmentITPR30.68
570Microphthalmia/coloboma 12EnrichmentFZD50.65
571Osteogenesis imperfecta, type ivEnrichmentWNT10.65
572Protein-deficiency anemiaEnrichmentNRAS0.65
573Nk-cell enteropathyEnrichmentPIK3CB0.65
574ThrombocytopeniaEnrichmentCYCS, TUBB10.63
575Cone-rod dystrophy 6EnrichmentCACNA1F0.62
576Coloboma of maculaEnrichmentFZD50.60
577Renal cell carcinoma, nonpapillaryEnrichmentMTOR0.60
578Wilms tumor 1EnrichmentBRAF0.60
579Corpus callosum, agenesis ofEnrichmentTUBA1A0.60
580Osteogenesis imperfecta, type iiiEnrichmentWNT10.60
581HydrocephalusEnrichmentFZD30.60
582Anterior segment dysgenesisEnrichmentITPR10.60
583Familial hypercholesterolemiaEnrichmentAPOE0.60
584Isolated corpus callosum agenesisEnrichmentTUBA1A0.60
585Rare genetic intellectual disabilityEnrichmentMTOR0.60
586Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentTUBA1A0.60
587Hydrocephalus, congenital, 1EnrichmentTUBB0.57
588RhabdomyosarcomaEnrichmentHRAS0.57
589Isolated congenital microcephalyEnrichmentTUBA3E0.57
590Spastic ataxiaEnrichmentITPR1, TUBB30.56
591Melanoma, cutaneous malignant 1EnrichmentBRAF0.55
592Sudden infant death syndromeEnrichmentCALM20.55
593Undetermined early-onset epileptic encephalopathyEnrichmentGRIN2D, PPP3CA0.53
594Heart, malformation ofEnrichmentMAPK10.53
595Patent foramen ovaleEnrichmentPSMC30.53
596Early infantile developmental and epileptic encephalopathyEnrichmentGRIN10.53
597Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentMAPT, PSEN10.51
598Diffuse large b-cell lymphomaEnrichmentBRAF0.51
599Esophageal atresia/tracheoesophageal fistulaEnrichmentAPC20.51
600Congenital myopathyEnrichmentCACNA1S0.51
601Macs syndromeEnrichmentWNT7B0.49
602Maturity-onset diabetes of the youngEnrichmentINS0.49
603CraniosynostosisEnrichmentGRIN2B0.49
604Cardiomyopathy, dilated, 1aEnrichmentLPL0.47
605Endometrial cancerEnrichmentPIK3CA0.47
606Centronuclear myopathyEnrichmentCACNA1S0.47
607Attention deficit-hyperactivity disorderEnrichmentKIF5B0.46
608Myocardial infarctionEnrichmentPSMA60.46
609MicrophthalmiaEnrichmentWNT7B0.46
610Skin diseaseEnrichmentNCSTN0.46
611Congenital stationary night blindnessEnrichmentCACNA1F0.44
612Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF10.43
613Autoinflammatory diseaseEnrichmentTNFRSF1A0.43
614ScoliosisEnrichmentGRIN2B0.43
615Cone-rod dystrophy 2EnrichmentATF6, CACNA1F0.42
616Pancreatic cancerEnrichmentKRAS0.41
617Complex neurodevelopmental disorderEnrichmentCSNK2A1, GRIN2B, PSMD120.37
618Hirschsprung disease 1EnrichmentAXIN20.36
619Prostate cancerEnrichmentPIK3CA0.36
620Familial hypertrophic cardiomyopathyEnrichmentRAF10.32
621Severe combined immunodeficiencyEnrichmentIKBKB0.32
622Left ventricular noncompactionEnrichmentRAF10.31
623Eye diseaseEnrichmentCACNA1F0.31
624Fetal akinesia deformation sequence 1EnrichmentTUBA1A0.29
625Systemic lupus erythematosusEnrichmentTNF0.27
626Distal arthrogryposisEnrichmentFZD30.25
627Hereditary spastic paraplegiaEnrichmentKIF5A0.25
628HypertelorismEnrichmentPIK3CA0.20
629Hereditary breast ovarian cancer syndromeEnrichmentKRAS0.18
630Autosomal recessive non-syndromic intellectual disabilityEnrichmentGRIN10.17
631Primary ovarian insufficiencyEnrichmentRYR30.16
632Inherited cancer-predisposing syndromeEnrichmentAPC, AXIN20.14
633Mitochondrial diseaseEnrichmentSLC25A40.09
634Leber plus diseaseEnrichmentTUBB4B0.07
635Hereditary retinal dystrophyEnrichmentATF6, CACNA1F, LRP50.04
636Fundus dystrophyEnrichmentATF6, CACNA1F, LRP50.04
637Retinitis pigmentosaEnrichmentCACNA1F0.01

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