Notch Signaling Pathways

No Pathway Network information available for Notch Signaling Pathways

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

Disorders associated with Notch Signaling Pathways SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1High-grade b-cell lymphoma double-hit/triple-hitEnrichmentBCL2, BCL6, MYC6.41
2Adams-oliver syndromeEnrichmentDLL4, NOTCH1, RBPJ4.88
3Colorectal cancerEnrichmentAKT1, CCND1, CTNNB1, EP300, FBXW7, PIK3R14.37
4Intravascular large b-cell lymphomaEnrichmentBCL2, BCL64.27
5Autism spectrum disorderEnrichmentCNTN6, CSNK2A1, CSNK2B, DYRK1A, EHMT1, SPEN3.82
6Alzheimer disease 4EnrichmentPSEN1, PSEN23.79
7Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R13.79
8Immunodeficiency 14EnrichmentPIK3CD, PIK3R13.79
9KeratoacanthomaEnrichmentNOTCH1, NOTCH23.79
10Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3R23.50
11Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R23.50
12EnophthalmosEnrichmentCSNK2B, DYRK1A3.50
13Dowling-degos diseaseEnrichmentPOFUT1, PSENEN3.50
14Follicular lymphomaEnrichmentBCL2, BCL63.28
15HemimegalencephalyEnrichmentAKT3, MTOR3.28
16Common variable immunodeficiencyEnrichmentNFKB1, NFKB22.96
17Overgrowth syndromeEnrichmentMTOR, PIK3R12.96
18Early-onset autosomal dominant alzheimer diseaseEnrichmentPSEN1, PSEN22.96
19PolymicrogyriaEnrichmentAKT3, EHMT12.63
20Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3CD, PIK3R12.63
21Familial thoracic aortic aneurysm and aortic dissectionEnrichmentMFAP5, NOTCH1, SMAD32.38
22Aortic aneurysm, familial thoracic 1EnrichmentNOTCH1, SMAD32.34
23Rare genetic intellectual disabilityEnrichmentEP300, MTOR2.28
24Autosomal dominant non-syndromic intellectual disabilityEnrichmentCLTC, CSNK2B, DLL12.23
25Proteus syndromeEnrichmentAKT12.13
26Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT22.13
27Incontinentia pigmentiEnrichmentIKBKG2.13
28Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG2.13
29Hajdu-cheney syndromeEnrichmentNOTCH22.13
30Alagille syndrome 2EnrichmentNOTCH22.13
31Acne inversa, familial, 1EnrichmentNCSTN2.13
32Lateral meningocele syndromeEnrichmentNOTCH32.13
33Congenital myopathy 12EnrichmentCNTN12.13
34Charcot-marie-tooth disease, dominant intermediate bEnrichmentDNM22.13
35Fetal encasement syndromeEnrichmentCHUK2.13
36Intellectual developmental disorder, autosomal dominant 7EnrichmentDYRK1A2.13
37Charcot-marie-tooth disease, axonal, type 2hhEnrichmentJAG12.13
38Immunodeficiency 15bEnrichmentIKBKB2.13
39Adams-oliver syndrome 6EnrichmentDLL42.13
40Immunodeficiency 15aEnrichmentIKBKB2.13
41Short syndromeEnrichmentPIK3R12.13
42Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG2.13
43Intellectual developmental disorder, x-linked, syndromic, hackmann-di donato typeEnrichmentNKAP2.13
44Mirror movements 4EnrichmentNTN12.13
45Aortic aneurysm, familial thoracic 9EnrichmentMFAP52.13
46Cardiomyopathy, dilated, 1vEnrichmentPSEN22.13
47Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT32.13
48Cardiomyopathy, dilated, 1uEnrichmentPSEN12.13
49Lethal congenital contracture syndrome 5EnrichmentDNM22.13
50Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.13
51Dowling-degos disease 2EnrichmentPOFUT12.13
52Cowden syndrome 6EnrichmentAKT12.13
53Cleft palate, psychomotor retardation, and distinctive facial featuresEnrichmentKDM1A2.13
54Myofibromatosis, infantile, 2EnrichmentNOTCH32.13
55Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD2.13
56Radio-tartaglia syndromeEnrichmentSPEN2.13
57Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.13
58Immunodeficiency 97 with autoinflammationEnrichmentPIK3CG2.13
59Acne inversa, familial, 2, with or without dowling-degos diseaseEnrichmentPSENEN2.13
60Acne inversa, familial, 3EnrichmentPSEN12.13
61Muscular dystrophy, limb-girdle, autosomal recessive 27EnrichmentJAG22.13
62Bryant-li-bhoj neurodevelopmental syndrome 1EnrichmentH3-3A2.13
63Okur-chung neurodevelopmental syndromeEnrichmentCSNK2A12.13
64Deficiency in anterior pituitary function - variable immunodeficiency syndromeEnrichmentNFKB22.13
65Bartsocas-papas syndrome 2EnrichmentCHUK2.13
66Deafness, congenital heart defects, and posterior embryotoxonEnrichmentJAG12.13
67Developmental delay, hypotonia, and impaired languageEnrichmentFBXW72.13
68Adenoid ameloblastomaEnrichmentCTNNB12.13
69Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeEnrichmentKDM1A2.13
70Congenital insensitivity to pain with severe intellectual disabilityEnrichmentCLTCL12.13
71Autosomal dominant charcot-marie-tooth disease type 2mEnrichmentDNM22.13
72Craniodigital syndrome and intellectual disability syndromeEnrichmentCSNK2B2.13
73Capillary hemangiomaEnrichmentAKT32.13
74Transient cerebral ischemiaEnrichmentNOTCH32.13
75Acth-independent macronodular adrenal hyperplasia 3EnrichmentKDM1A2.13
76Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1EnrichmentNOTCH32.13
77Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK2.13
78Pash syndromeEnrichmentNCSTN2.13
79Huntington's disease-likeEnrichmentPSEN22.13
80Microcystic stromal tumorEnrichmentCTNNB12.13
81Akt2-related familial partial lipodystrophyEnrichmentAKT22.13
82Heart, malformation ofEnrichmentCDK8, JAG12.12
83Myeloma, multipleEnrichmentCCND1, NCOR2, PIK3R22.09
84Ehlers-danlos syndromeEnrichmentSMAD3, THBS22.07
85HepatoblastomaEnrichmentCTNNB1, JAG11.99
86Precursor t-cell acute lymphoblastic leukemiaEnrichmentMYC, PICALM1.91
87Burkitt lymphomaEnrichmentMYC1.83
88Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactylyEnrichmentRUNX21.83
89Ebstein anomalyEnrichmentCDK81.83
90Osteopathia striata with cranial sclerosisEnrichmentCTNNB11.83
91Alzheimer disease 3EnrichmentPSEN11.83
92Immunodeficiency 33EnrichmentIKBKG1.83
93Pick disease of brainEnrichmentPSEN11.83
94Roifman-chitayat syndromeEnrichmentPIK3CD1.83
95Adams-oliver syndrome 5EnrichmentNOTCH11.83
96Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.83
97Immunodeficiency, common variable, 10EnrichmentNFKB21.83
98Loeys-dietz syndrome 3EnrichmentSMAD31.83
99Adams-oliver syndrome 3EnrichmentRBPJ1.83
100Hypotonia, ataxia, developmental delay, and tooth enamel defect syndromeEnrichmentCTBP11.83
101Poirier-bienvenu neurodevelopmental syndromeEnrichmentCSNK2B1.83
102Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizuresEnrichmentDLL11.83
103Cebalid syndromeEnrichmentMTOR1.83
104Menke-hennekam syndrome 2EnrichmentEP3001.83
105Infantile myofibromatosisEnrichmentNOTCH31.83
106Childhood hepatocellular carcinomaEnrichmentCTNNB11.83
107Left ventricular noncompaction 7EnrichmentMIB11.83
108Senior-loken syndrome 7EnrichmentAKT31.83
109Kleefstra syndromeEnrichmentEHMT11.83
110Central precocious pubertyEnrichmentDLK11.83
111Lipodystrophy, familial partial, type 1EnrichmentNOTCH31.83
112Depressive disorderEnrichmentNOTCH31.83
113Inflammatory skin and bowel disease, neonatal, 1EnrichmentADAM171.83
114Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG1.83
115Immune system diseaseEnrichmentPIK3CD1.83
116Bardet-biedl syndrome 16EnrichmentAKT31.83
117Smith-kingsmore syndromeEnrichmentMTOR1.83
118Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG1.83
119Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB11.83
120Intellectual developmental disorder with hypotonia and behavioral abnormalitiesEnrichmentCDK81.83
121Bryant-li-bhoj neurodevelopmental syndrome 2EnrichmentH3-3A1.83
122Kleefstra syndrome due to a point mutationEnrichmentEHMT11.83
123TeratomaEnrichmentCTNNB11.83
124Primary mediastinal large b-cell lymphomaEnrichmentBCL61.83
125Common variable immunodeficiency 12EnrichmentNFKB11.83
126Tetralogy of fallotEnrichmentJAG1, NOTCH11.81
127Cleidocranial dysplasia 1EnrichmentRUNX21.66
128Desmoid disease, hereditaryEnrichmentCTNNB11.66
129Prognathism, mandibularEnrichmentCSNK2B1.66
130Alagille syndrome 1EnrichmentJAG11.66
131Myopathy, centronuclear, x-linkedEnrichmentDNM21.66
132Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3R11.66
133Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.66
134Anus, imperforateEnrichmentCTNNB11.66
135Exudative vitreoretinopathy 7EnrichmentCTNNB11.66
136Intellectual developmental disorder, autosomal dominant 56EnrichmentCLTC1.66
137Developmental and epileptic encephalopathy 31bEnrichmentDNM11.66
138Ehlers-danlos syndrome, classic-like, 3EnrichmentTHBS21.66
139Desmoid tumorEnrichmentCTNNB11.66
140Precocious puberty, central, 2EnrichmentDLK11.66
141Leukodystrophy and acquired microcephaly with or without dystoniaEnrichmentDLL31.66
142Cleidocranial dysplasiaEnrichmentRUNX21.66
143Migraine without auraEnrichmentNOTCH31.66
144Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentKDM1A1.66
145Neonatal inflammatory skin and bowel diseaseEnrichmentADAM171.66
146EnchondromatosisEnrichmentHIF1A1.66
147Connective tissue diseaseEnrichmentNOTCH1, SMAD31.64
148Mirror movements 1EnrichmentNTN11.54
149Kagami-ogata syndromeEnrichmentDLK11.54
150Focal cortical dysplasia, type iiEnrichmentMTOR1.54
151Immunodeficiency, common variable, 1EnrichmentNFKB21.54
152PilomatrixomaEnrichmentCTNNB11.54
153Temple syndromeEnrichmentDLK11.54
154Alazami syndromeEnrichmentCTNNB11.54
155Mantle cell lymphomaEnrichmentCCND11.54
156SyndactylyEnrichmentCSNK2B1.54
157Cerebrovascular diseaseEnrichmentNOTCH31.54
158Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1EnrichmentCLTC1.54
159Aortic aneurysmEnrichmentSMAD31.54
160CraniopharyngiomaEnrichmentCTNNB11.54
161Genetic central precocious puberty in maleEnrichmentDLK11.54
162Isolated focal cortical dysplasia type iiEnrichmentMTOR1.54
163Middle aortic syndromeEnrichmentJAG11.54
164Enchondromatosis, multiple, ollier typeEnrichmentHIF1A1.44
165Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1EnrichmentNOTCH31.44
166Exudative vitreoretinopathy 1EnrichmentCTNNB11.44
167Von hippel-lindau syndromeEnrichmentCCND11.44
168Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG1.44
169Developmental and epileptic encephalopathy 31aEnrichmentDNM11.44
170Rubinstein-taybi syndrome 2EnrichmentEP3001.44
171Pervasive developmental disorderEnrichmentFBXW71.44
172Aplasia cutis congenitaEnrichmentDLL41.44
173Vascular dementiaEnrichmentNOTCH31.44
174DementiaEnrichmentPSEN11.44
175Rare pervasive developmental disorderEnrichmentFBXW71.44
176Type 2 diabetes mellitusEnrichmentAKT2, RBPJ1.42
177Myopathy, centronuclear, 1EnrichmentDNM21.36
178Weyers acrofacial dysostosisEnrichmentCTNNB11.36
179Wolf-hirschhorn syndromeEnrichmentCTBP11.36
180Telangiectasia, hereditary hemorrhagic, type 1EnrichmentPSEN11.36
181Rubinstein-taybi syndrome 1EnrichmentEP3001.36
182Kleefstra syndrome 1EnrichmentEHMT11.36
183Chromosome 16p13.3 deletion syndrome, proximalEnrichmentEP3001.36
184Inflammatory myofibroblastic tumorEnrichmentCLTC1.36
185Adrenocortical carcinomaEnrichmentCTNNB11.36
186Breast adenocarcinomaEnrichmentAKT11.36
187Spondylocostal dysostosis, autosomal recessiveEnrichmentDLL31.36
188Intervertebral disc diseaseEnrichmentTHBS21.30
189Renal cell carcinoma, papillary, 1EnrichmentMTOR1.30
190Noonan syndrome 3EnrichmentCLTC1.30
191Multiple enchondromatosis, maffucci typeEnrichmentHIF1A1.30
192Semantic dementiaEnrichmentPSEN11.30
193Renal cell carcinoma with mit translocationsEnrichmentCLTC1.30
194Gallbladder cancerEnrichmentCTNNB11.30
195MegacolonEnrichmentAKT31.30
196Glioma susceptibility 1EnrichmentH3-3A1.24
197Spondylocostal dysostosis 1, autosomal recessiveEnrichmentDLL31.24
198Lennox-gastaut syndromeEnrichmentDNM11.24
199Exudative vitreoretinopathyEnrichmentCTNNB11.24
200Hypoplastic left heart syndromeEnrichmentNOTCH11.24
201Familial isolated dilated cardiomyopathyEnrichmentPSEN1, PSEN21.24
202MicrocephalyEnrichmentCTNNB1, DYRK1A, EP3001.20
203Complex neurodevelopmental disorderEnrichmentCDK8, CSNK2A1, DYRK1A1.20
204Undetermined early-onset epileptic encephalopathyEnrichmentCLTC, DNM11.19
205Charge syndromeEnrichmentEP3001.19
206Coronary heart disease 5EnrichmentIKBKG1.19
207Loeys-dietz syndromeEnrichmentSMAD31.19
208Adult hepatocellular carcinomaEnrichmentCTNNB11.19
209Progressive non-fluent aphasiaEnrichmentPSEN11.19
210Cowden syndromeEnrichmentAKT11.19
211Familial thoracic aortic aneurysm and dissectionEnrichmentSMAD31.19
212Behavioral variant of frontotemporal dementiaEnrichmentPSEN11.19
213SchizophreniaEnrichmentCNTN6, EHMT11.15
214Leukemia, chronic lymphocyticEnrichmentCCND11.15
215Stroke, ischemicEnrichmentNOTCH31.15
216Ciliary dyskinesia, primary, 3EnrichmentNFKB11.15
217Migraine with or without aura 1EnrichmentNOTCH31.11
218Frontotemporal dementia 1EnrichmentPSEN11.11
219MeningiomaEnrichmentAKT11.07
220Aortic valve disease 1EnrichmentNOTCH11.04
221Diaphragmatic hernia, congenitalEnrichmentCDK81.04
222Alzheimer's diseaseEnrichmentPSEN11.04
223Chromosome 1p36 deletion syndromeEnrichmentSPEN1.04
224Stereotypic movement disorderEnrichmentDNM11.04
225Nk-cell enteropathyEnrichmentPIK3CB1.04
226MedulloblastomaEnrichmentCTNNB11.01
227Renal cell carcinoma, nonpapillaryEnrichmentMTOR0.98
228Polydactyly, postaxial, type a1EnrichmentEP3000.98
229Septopreoptic holoprosencephalyEnrichmentDLL10.98
230Male infertility with spermatogenesis disorderEnrichmentDYRK1A0.98
231Midline interhemispheric variant of holoprosencephalyEnrichmentDLL10.98
232Hydrocephalus, congenital, 1EnrichmentCDK80.95
233GliosarcomaEnrichmentTACC30.95
234Microform holoprosencephalyEnrichmentDLL10.95
235Lobar holoprosencephalyEnrichmentDLL10.95
236Alzheimer disease, familial, 1EnrichmentPSEN10.93
237Polycystic liver diseaseEnrichmentCTNNB10.93
238Giant cell glioblastomaEnrichmentTACC30.93
239Autosomal dominant polycystic liver diseaseEnrichmentCTNNB10.93
240Alobar holoprosencephalyEnrichmentDLL10.93
241Semilobar holoprosencephalyEnrichmentDLL10.90
242Centronuclear myopathyEnrichmentDNM20.84
243Hepatocellular carcinomaEnrichmentCTNNB10.82
244MicrophthalmiaEnrichmentDYRK1A0.82
245Skin diseaseEnrichmentNCSTN0.82
246MalariaEnrichmentIKBKG0.81
247Ovarian cancerEnrichmentAKT1, CTNNB10.77
248Auditory neuropathyEnrichmentNOTCH30.76
249Congenital nervous system abnormalityEnrichmentCTNNB1, PSEN10.74
250Nervous system diseaseEnrichmentCTNNB1, PSEN10.74
251Bladder cancerEnrichmentCTNNB10.71
252Severe combined immunodeficiencyEnrichmentIKBKB0.66
253Left ventricular noncompactionEnrichmentMIB10.64
254Leukemia, acute myeloidEnrichmentPICALM0.59
255MyopathyEnrichmentDNM20.59
256Charcot-marie-tooth diseaseEnrichmentDNM20.58
257Nephrotic syndromeEnrichmentRUNX20.56
258West syndromeEnrichmentDNM10.56
259Hereditary breast carcinomaEnrichmentAKT10.56
260Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentPSEN10.46
261Primary ovarian insufficiencyEnrichmentNOTCH20.45
262AutismEnrichmentCNTN60.38
263Breast cancerEnrichmentAKT10.37
264Hereditary retinal dystrophyEnrichmentJAG10.05
265Fundus dystrophyEnrichmentJAG10.05

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