Pre-NOTCH Expression and Processing

Pathway network for the Pre-NOTCH Expression and Processing SuperPath

Sources:
  • Reactome

Pathways in the Pre-NOTCH Expression and Processing SuperPath

#NameSourceGenes
1Pre-NOTCH Expression and ProcessingReactome
2Signaling by NOTCHReactome
3Pre-NOTCH Transcription and TranslationReactome
4Pre-NOTCH Processing in GolgiReactome
5Pre-NOTCH Processing in the Endoplasmic ReticulumReactome
6Defective LFNG causes SCDO3Reactome
7Expression of NOTCH2NL genesReactome

Gene overlap in member pathways for Pre-NOTCH Expression and Processing SuperPath

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

Disorders associated with Pre-NOTCH Expression and Processing SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Spondylocostal dysostosisDirect
2Tessadori-bicknell-van haaften neurodevelopmental syndrome 4EnrichmentH2BC12, H4C1, H4C96.46
3KeratoacanthomaEnrichmentNOTCH1, NOTCH26.31
4Dowling-degos diseaseEnrichmentPOFUT1, POGLUT16.01
5Glioma susceptibility 1EnrichmentH3-3A, H3C1, TP534.73
6Tessadori-bicknell-van haaften neurodevelopmental syndrome 1EnrichmentH4C1, H4C34.30
7Tessadori-bicknell-van haaften neurodevelopmental syndrome 2EnrichmentH4C1, H4C114.30
8Bryant-li-bhoj neurodevelopmental syndrome 2EnrichmentH3-3A, H3-3B4.30
9Tessadori-bicknell-van haaften neurodevelopmental syndrome 3EnrichmentH4C1, H4C53.83
10Adams-oliver syndromeEnrichmentDLL4, NOTCH1, RBPJ3.81
11Complex neurodevelopmental disorderEnrichmentAGO1, AGO2, H4C3, H4C5, H4C9, TNRC6B3.61
12Neuronal intranuclear inclusion diseaseEnrichmentNOTCH2NLC3.53
13Oculopharyngodistal myopathy 3EnrichmentNOTCH2NLC3.53
14Myeloma, multipleEnrichmentCCND1, CREBBP, H3C1, HDAC4, NCOR2, TP533.47
15Hajdu-cheney syndromeEnrichmentNOTCH23.35
16Alagille syndrome 2EnrichmentNOTCH23.35
17Lateral meningocele syndromeEnrichmentNOTCH33.35
18Dowling-degos disease 4EnrichmentPOGLUT13.35
19Muscular dystrophy, limb-girdle, autosomal recessive 21EnrichmentPOGLUT13.35
20Dowling-degos disease 2EnrichmentPOFUT13.35
21Myofibromatosis, infantile, 2EnrichmentNOTCH33.35
22Autosomal recessive limb-girdle muscular dystrophy type 2zEnrichmentPOGLUT13.35
23Transient cerebral ischemiaEnrichmentNOTCH33.35
24Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1EnrichmentNOTCH33.35
25Cyclic neutropeniaEnrichmentELANE3.23
26Neutropenia, severe congenital, x-linkedEnrichmentELANE3.23
27Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3003.14
28Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3003.14
29Alzheimer disease 4EnrichmentPSEN1, PSEN23.08
30Neonatal inflammatory skin and bowel diseaseEnrichmentADAM17, EGFR3.08
31Tetralogy of fallotEnrichmentFLT4, HEY2, JAG1, NOTCH13.06
32Neutropenia, severe congenital, 1, autosomal dominantEnrichmentELANE3.05
33Tremor, hereditary essential, 6EnrichmentNOTCH2NLC3.05
34Adams-oliver syndrome 5EnrichmentNOTCH13.05
35Infantile myofibromatosisEnrichmentNOTCH33.05
36Lipodystrophy, familial partial, type 1EnrichmentNOTCH33.05
37Depressive disorderEnrichmentNOTCH33.05
38Migraine without auraEnrichmentNOTCH32.88
39Spondylocostal dysostosis 3, autosomal recessiveEnrichmentLFNG2.88
40Congenital disorder of glycosylation, type iidEnrichmentB4GALT12.88
41Intellectual developmental disorder, autosomal recessive 12EnrichmentST3GAL32.88
42Combined low ldl and fibrinogenEnrichmentB4GALT12.88
43Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic faciesEnrichmentSEL1L2.88
44Rhabdomyolysis 2EnrichmentATP2A22.88
45St3gal3-cdgEnrichmentST3GAL32.88
46Autosomal dominant severe congenital neutropeniaEnrichmentELANE2.83
47Lung cancer susceptibility 3EnrichmentACTA2, EGFR, TP532.83
48Cerebrovascular diseaseEnrichmentNOTCH32.75
49Oculopharyngodistal myopathy 1EnrichmentNOTCH2NLC2.69
50NeutropeniaEnrichmentELANE2.69
51Leukemia, chronic lymphocyticEnrichmentCCND1, TP532.67
52Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1EnrichmentNOTCH32.66
53Vascular dementiaEnrichmentNOTCH32.66
54GliosarcomaEnrichmentEGFR, TACC3, TP532.65
55Acrokeratosis verruciformisEnrichmentATP2A22.58
56Brody diseaseEnrichmentATP2A12.58
57Developmental and epileptic encephalopathy 15EnrichmentST3GAL32.58
58Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemiaEnrichmentSEL1L2.58
59Giant cell glioblastomaEnrichmentEGFR, TACC3, TP532.57
60Hypoplastic left heart syndromeEnrichmentNOTCH12.45
61Diffuse large b-cell lymphomaEnrichmentCREBBP, TBL1XR1, TP532.43
62Darier-white diseaseEnrichmentATP2A22.40
63Breast adenocarcinomaEnrichmentAKT1, TP532.39
64Stroke, ischemicEnrichmentNOTCH32.35
65Migraine with or without aura 1EnrichmentNOTCH32.31
66Rare genetic intellectual disabilityEnrichmentCREBBP, EP3002.31
67Squamous cell carcinoma, head and neckEnrichmentEGFR, TP532.25
68Early-onset autosomal dominant alzheimer diseaseEnrichmentPSEN1, PSEN22.25
69B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentIKZF1, TP532.25
70Aortic valve disease 1EnrichmentNOTCH12.24
71Aortic aneurysm, familial thoracic 1EnrichmentNOTCH12.21
72Familial thoracic aortic aneurysm and aortic dissectionEnrichmentACTA2, HEY2, NOTCH1, SMAD32.21
73Autoinflammatory diseaseEnrichmentELANE2.15
74Global developmental delay with speech and behavioral abnormalitiesEnrichmentTNRC6B2.15
75Bone marrow failure syndrome 5EnrichmentTP532.15
76Papilloma of choroid plexusEnrichmentTP532.15
77Basal cell carcinoma 7EnrichmentTP532.15
78Hypospadias 2, x-linkedEnrichmentMAMLD12.15
79Anaplastic thyroid carcinomaEnrichmentTP532.15
80Ductal carcinoma in situEnrichmentTP532.15
81Epilepsy, familial adult myoclonic, 6EnrichmentTNRC6A2.15
82Bryant-li-bhoj neurodevelopmental syndrome 1EnrichmentH3-3A2.15
83Menke-hennekam syndrome 1EnrichmentCREBBP2.15
84Thyroid gland undifferentiated carcinomaEnrichmentTP532.15
85Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP532.15
86Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP2.15
87Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP532.15
88Choroid plexus cancerEnrichmentTP532.15
89Menke-hennekam syndromeEnrichmentCREBBP2.15
90Pleomorphic xanthoastrocytomaEnrichmentTP532.15
91Lethal brain and heart developmental defectsEnrichmentSIRT62.15
9246,xy ovotesticular disorder of sex developmentEnrichmentMAMLD12.15
93Spondylocostal dysostosis, autosomal recessiveEnrichmentLFNG2.10
94Adult hepatocellular carcinomaEnrichmentEGF, TP532.03
95Auditory neuropathyEnrichmentNOTCH31.94
96Connective tissue diseaseEnrichmentNOTCH11.85
97Adrenocortical carcinoma, hereditaryEnrichmentTP531.85
98Storage pool platelet diseaseEnrichmentRUNX11.85
99Thumb deformityEnrichmentCREBBP1.85
100Cervical cancerEnrichmentTP531.85
101Premature ovarian failure 3EnrichmentAGO21.85
102Lymphoma, hodgkin, classicEnrichmentTP531.85
103Adams-oliver syndrome 3EnrichmentRBPJ1.85
104Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizuresEnrichmentAGO11.85
105Menke-hennekam syndrome 2EnrichmentEP3001.85
106Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP1.85
107Congenital fibrosarcomaEnrichmentTP531.85
108Li-fraumeni syndrome 1EnrichmentTP531.85
109SarcomaEnrichmentTP531.85
110Cervix carcinomaEnrichmentTP531.85
111Hodgkin's lymphomaEnrichmentTP531.85
112Posterior hypospadiasEnrichmentMAMLD11.85
113X-linked myotubular myopathy-abnormal genitalia syndromeEnrichmentMAMLD11.85
114Pleomorphic rhabdomyosarcomaEnrichmentTP531.85
115Tafro syndromeEnrichmentRUNX11.85
116Colorectal cancerEnrichmentAKT1, CCND1, EP300, FBXW7, TP531.81
117Lip and oral cavity carcinomaEnrichmentEGFR, TP531.78
118Proteus syndromeEnrichmentAKT11.77
119Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmiaEnrichmentHDAC61.77
120Hypothyroidism, congenital, nongoitrous, 8EnrichmentTBL1X1.77
121Hypomagnesemia 4, renalEnrichmentEGF1.77
122Acne inversa, familial, 1EnrichmentNCSTN1.77
123Memory quantitative trait locusEnrichmentWWC11.77
124Congenital myopathy 12EnrichmentCNTN11.77
125Charcot-marie-tooth disease, axonal, type 2hhEnrichmentJAG11.77
126Neurodevelopmental disorder with microcephaly, hypotonia, and absent languageEnrichmentPSMB11.77
127Adams-oliver syndrome 6EnrichmentDLL41.77
128Chromosome 2q37 deletion syndromeEnrichmentHDAC41.77
129Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayEnrichmentPBX11.77
130Auriculocondylar syndrome 4EnrichmentHDAC91.77
131Cornelia de lange syndrome 5EnrichmentHDAC81.77
132Stankiewicz-isidor syndromeEnrichmentPSMD121.77
133Cardiomyopathy, dilated, 1vEnrichmentPSEN21.77
134Neurodevelopmental disorder with or without early-onset generalized epilepsyEnrichmentNBEA1.77
135Deafness, cataract, impaired intellectual development, and polyneuropathyEnrichmentPSMC31.77
136Alzheimer disease 18EnrichmentADAM101.77
137Autoimmune disease, multisystem, with facial dysmorphismEnrichmentITCH1.77
138Cardiomyopathy, dilated, 1uEnrichmentPSEN11.77
139Immunodeficiency 31aEnrichmentSTAT11.77
140Cowden syndrome 6EnrichmentAKT11.77
141Reticulate acropigmentation of kitamuraEnrichmentADAM101.77
142Acne inversa, familial, 2, with or without dowling-degos diseaseEnrichmentPSENEN1.77
143Immunodeficiency 31bEnrichmentSTAT11.77
144Acne inversa, familial, 3EnrichmentPSEN11.77
145Congenital heart defects, multiple types, 7EnrichmentFLT41.77
146Muscular dystrophy, limb-girdle, autosomal recessive 27EnrichmentJAG21.77
147Immunodeficiency, common variable, 13EnrichmentIKZF11.77
148Deafness, congenital heart defects, and posterior embryotoxonEnrichmentJAG11.77
149Neurodevelopmental disorder with central hypotonia and dysmorphic faciesEnrichmentHDAC41.77
150Developmental delay, hypotonia, and impaired languageEnrichmentFBXW71.77
151Combined immunodeficiency due to dimerization defective ikaros mutationEnrichmentIKZF11.77
152Immunodeficiency 126EnrichmentPTCRA1.77
153Syndromic multisystem autoimmune disease due to itch deficiencyEnrichmentITCH1.77
154Early-onset combined immunodeficiency with low ig due to dominant negative ikaros mutationEnrichmentIKZF11.77
155Pash syndromeEnrichmentNCSTN1.77
156Huntington's disease-likeEnrichmentPSEN21.77
157Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF1.77
158Platelet disorder, familial, with associated myeloid malignancyEnrichmentRUNX11.68
159Osteogenic sarcomaEnrichmentTP531.68
160Nasopharyngeal carcinomaEnrichmentTP531.68
161Tethered spinal cord syndromeEnrichmentCREBBP1.68
162Atypical teratoid rhabdoid tumorEnrichmentTP531.68
163Anaplastic astrocytomaEnrichmentTP531.68
164Squamous cell carcinomaEnrichmentTP531.68
165AdenocarcinomaEnrichmentTP531.68
166Intraocular pressure quantitative trait locusEnrichmentCREBBP1.68
167Bone osteosarcomaEnrichmentTP531.68
168Lessel-kreienkamp syndromeEnrichmentAGO21.68
169Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with runx1EnrichmentRUNX11.68
170Primary ovarian insufficiencyEnrichmentNOTCH21.59
171Small cell cancer of the lungEnrichmentTP531.55
172Thyroid cancer, nonmedullary, 1EnrichmentTP531.55
173Mantle cell lymphomaEnrichmentCCND11.55
174Lung sarcomatoid carcinomaEnrichmentTP531.55
175Embryonal rhabdomyosarcomaEnrichmentTP531.55
176Blood platelet diseaseEnrichmentRUNX11.55
177Leukemia, acute myeloidEnrichmentRUNX1, TP531.49
178Lymphatic malformation 1EnrichmentFLT41.48
179Burkitt lymphomaEnrichmentMYC1.48
180Intracranial hypertension, idiopathicEnrichmentFLT41.48
181Ebstein anomalyEnrichmentCDK81.48
182Alzheimer disease 3EnrichmentPSEN11.48
183Histiocytoma, angiomatoid fibrousEnrichmentCREB11.48
184Aortic aneurysm, familial thoracic 2EnrichmentACTA21.48
185Pick disease of brainEnrichmentPSEN11.48
186Smooth muscle dysfunction syndromeEnrichmentACTA21.48
187Aortic aneurysm, familial thoracic 6EnrichmentACTA21.48
188Moyamoya disease 5EnrichmentACTA21.48
189Syndactyly, type iiiEnrichmentHDAC81.48
190Loeys-dietz syndrome 3EnrichmentSMAD31.48
191Immunodeficiency 31cEnrichmentSTAT11.48
192Diamond-blackfan anemia-likeEnrichmentIKZF11.48
193Birk-aharoni syndromeEnrichmentPSMC11.48
194Spondyloepiphyseal dysplasia, nishimura typeEnrichmentWWP21.48
195Cerebellar, ocular, craniofacial, and genital syndromeEnrichmentNBEA1.48
196Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizuresEnrichmentDLL11.48
197Congenital heart defects, multiple types, 9EnrichmentPLXND11.48
198Proteasome-associated autoinflammatory syndrome 3EnrichmentPSMB41.48
199Wilson-turner syndromeEnrichmentHDAC81.48
200Left ventricular noncompaction 7EnrichmentMIB11.48
201Stevens-johnson syndromeEnrichmentIKZF11.48
202Central precocious pubertyEnrichmentDLK11.48
203Inflammatory skin and bowel disease, neonatal, 1EnrichmentADAM171.48
204Hereditary lymphedema iEnrichmentFLT41.48
20517q24.2 microdeletion syndromeEnrichmentPSMD121.48
206Intellectual developmental disorder with hypotonia and behavioral abnormalitiesEnrichmentCDK81.48
207B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)EnrichmentPBX11.48
208Renal hypoplasia, bilateralEnrichmentPBX11.48
209Submucosal cleft palateEnrichmentUBB1.48
210Cleft hard palateEnrichmentUBB1.48
211Von hippel-lindau syndromeEnrichmentCCND11.46
212Rhabdomyosarcoma 2EnrichmentTP531.46
213Rubinstein-taybi syndrome 2EnrichmentEP3001.46
214LymphomaEnrichmentTP531.46
215Acute megakaryocytic leukemiaEnrichmentTP531.46
216Aggressive systemic mastocytosisEnrichmentRUNX11.46
217Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentRUNX11.46
218Heart, malformation ofEnrichmentCDK8, JAG11.44
219Li-fraumeni syndromeEnrichmentTP531.38
220PancytopeniaEnrichmentRUNX11.38
221Adrenocortical carcinomaEnrichmentTP531.38
222HypertrichosisEnrichmentCREBBP1.38
223Developmental and epileptic encephalopathyEnrichmentST3GAL31.33
224HepatoblastomaEnrichmentJAG1, TP531.32
225Esophageal cancerEnrichmentTP531.31
226Leukemia, chronic myeloidEnrichmentRUNX11.31
227Essential thrombocythemiaEnrichmentTP531.31
228Gallbladder cancerEnrichmentTP531.31
229Alagille syndrome 1EnrichmentJAG11.30
230Proteasome-associated autoinflammatory syndrome 1EnrichmentPSMB41.30
231Uvula, bifidEnrichmentUBB1.30
232Pierpont syndromeEnrichmentTBL1XR11.30
233Cleft soft palateEnrichmentUBB1.30
234Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.30
235High-grade b-cell lymphoma double-hit/triple-hitEnrichmentMYC1.30
236Proteosome-associated autoinflammatory syndromeEnrichmentPSMB41.30
237Precocious puberty, central, 2EnrichmentDLK11.30
238Intellectual developmental disorder, autosomal dominant 41EnrichmentTBL1XR11.30
239Melanoma of soft tissueEnrichmentCREB11.30
240EnchondromatosisEnrichmentHIF1A1.30
241Thyroid hemiagenesisEnrichmentPSMD31.30
242Autosomal dominant non-syndromic intellectual disabilityEnrichmentDLL1, NBEA, YWHAZ1.29
243Lymphoma, non-hodgkin, familialEnrichmentTP531.26
244Charge syndromeEnrichmentEP3001.21
245Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentTNRC6B1.21
246Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentRUNX11.21
247Primary hyperaldosteronismEnrichmentTP531.21
248Dowling-degos disease 1EnrichmentADAM101.18
249Autoimmune lymphoproliferative syndromeEnrichmentACTA21.18
250Kagami-ogata syndromeEnrichmentDLK11.18
251Temple syndromeEnrichmentDLK11.18
252Aortic aneurysmEnrichmentSMAD31.18
253Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentYWHAZ1.18
254Genetic central precocious puberty in maleEnrichmentDLK11.18
255Middle aortic syndromeEnrichmentJAG11.18
256Familial colorectal cancerEnrichmentTP531.16
257Myelodysplastic syndromeEnrichmentTP531.12
258Moebius syndromeEnrichmentPLXND11.09
259Enchondromatosis, multiple, ollier typeEnrichmentHIF1A1.09
260Pervasive developmental disorderEnrichmentFBXW71.09
261Aplasia cutis congenitaEnrichmentDLL41.09
262DementiaEnrichmentPSEN11.09
263Persistent truncus arteriosusEnrichmentPLXND11.09
264Rare pervasive developmental disorderEnrichmentFBXW71.09
265Bladder cancerEnrichmentEGFR, TP531.07
266Heart diseaseEnrichmentCREBBP1.02
267Developmental dysplasia of the hip 1EnrichmentPSMC31.01
268Cowden syndrome 1EnrichmentEGFR1.01
269Telangiectasia, hereditary hemorrhagic, type 1EnrichmentPSEN11.01
270Moyamoya disease 1EnrichmentACTA21.01
271Hemangioma, capillary infantileEnrichmentFLT41.01
272Patent ductus arteriosusEnrichmentPSMC31.01
273Chronic mucocutaneous candidiasisEnrichmentSTAT11.01
274Lung squamous cell carcinomaEnrichmentEGFR1.01
275Breast cancerEnrichmentJUN, TP531.01
276Lung cancerEnrichmentACTA2, EGFR1.00
277Polydactyly, postaxial, type a1EnrichmentEP3001.00
278Corpus callosum, agenesis ofEnrichmentCREBBP1.00
279Isolated corpus callosum agenesisEnrichmentCREBBP1.00
280Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP1.00
281RhabdomyosarcomaEnrichmentTP530.97
282Multiple enchondromatosis, maffucci typeEnrichmentHIF1A0.95
283Semantic dementiaEnrichmentPSEN10.95
284Left ventricular noncompactionEnrichmentMIB1, MIB20.93
285Fanconi anemia, complementation group cEnrichmentHDAC80.90
286Isolated split hand-split foot malformationEnrichmentSEM10.90
287Cornelia de lange syndrome 1EnrichmentHDAC80.85
288Loeys-dietz syndromeEnrichmentSMAD30.85
289Progressive non-fluent aphasiaEnrichmentPSEN10.85
290Cornelia de lange syndromeEnrichmentHDAC80.85
291Cowden syndromeEnrichmentAKT10.85
292Familial thoracic aortic aneurysm and dissectionEnrichmentSMAD30.85
293Behavioral variant of frontotemporal dementiaEnrichmentPSEN10.85
294Hepatocellular carcinomaEnrichmentTP530.84
295Diamond-blackfan anemia 1EnrichmentTP530.82
296PolymicrogyriaEnrichmentPSMC30.81
297ScoliosisEnrichmentCREBBP0.80
298Pancreatic cancerEnrichmentTP530.79
299Hereditary breast carcinomaEnrichmentAKT1, TP530.77
300Immune deficiency diseaseEnrichmentIKZF10.77
301Frontotemporal dementia 1EnrichmentPSEN10.77
302Leukemia, acute lymphoblasticEnrichmentIKZF10.77
303Atrial heart septal defectEnrichmentHDAC80.77
304Lung non-small cell carcinomaEnrichmentEGFR0.77
305Interatrial communicationEnrichmentHDAC80.77
306MeningiomaEnrichmentAKT10.73
307Prostate cancerEnrichmentTP530.73
308Diaphragmatic hernia, congenitalEnrichmentCDK80.70
309Acute promyelocytic leukemiaEnrichmentTBL1XR10.70
310Alzheimer's diseaseEnrichmentPSEN10.70
311Familial isolated dilated cardiomyopathyEnrichmentPSEN1, PSEN20.65
312Septopreoptic holoprosencephalyEnrichmentDLL10.65
313Midline interhemispheric variant of holoprosencephalyEnrichmentDLL10.65
314Diamond-blackfan anemiaEnrichmentTP530.65
315Hydrocephalus, congenital, 1EnrichmentCDK80.62
316Microform holoprosencephalyEnrichmentDLL10.62
317Lobar holoprosencephalyEnrichmentDLL10.62
318Inherited cancer-predisposing syndromeEnrichmentRUNX1, TP530.62
319Ovarian cancerEnrichmentAKT1, EGFR, TP530.62
320Alzheimer disease, familial, 1EnrichmentPSEN10.60
321Alobar holoprosencephalyEnrichmentDLL10.60
322Type 2 diabetes mellitusEnrichmentRBPJ0.59
323Patent foramen ovaleEnrichmentPSMC30.58
324Polycystic kidney diseaseEnrichmentHDAC80.58
325Semilobar holoprosencephalyEnrichmentDLL10.58
326Gastric cancerEnrichmentTP530.58
327Arteriovenous malformations of the brainEnrichmentEGFR0.56
328Ehlers-danlos syndromeEnrichmentSMAD30.56
329Autism spectrum disorderEnrichmentNBEA, PBX1, TNRC6B0.56
330ThrombocytopeniaEnrichmentRUNX10.54
331Myocardial infarctionEnrichmentPSMA60.51
332Skin diseaseEnrichmentNCSTN0.51
333Precursor t-cell acute lymphoblastic leukemiaEnrichmentMYC0.49
334Hereditary breast ovarian cancer syndromeEnrichmentTP530.49
335MicrocephalyEnrichmentEP300, HDAC8, PSMC30.47
336AutismEnrichmentCREBBP, NBEA0.47
337Hydrops fetalis, nonimmuneEnrichmentFLT40.45
338Non-immune hydrops fetalisEnrichmentFLT40.39
339EpilepsyEnrichmentNBEA0.31
340Congenital nervous system abnormalityEnrichmentCREBBP0.28
341Nervous system diseaseEnrichmentCREBBP0.28
342Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentPSEN10.20
343Hereditary retinal dystrophyEnrichmentJAG10.00
344Fundus dystrophyEnrichmentJAG10.00

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