Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants

Pathway network for the Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants SuperPath

Sources:
  • Reactome

Pathways in the Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants SuperPath

#NameSourceGenes
1Constitutive Signaling by NOTCH1 HD+PEST Domain MutantsReactome
2Signaling by NOTCH1Reactome
3Signaling by NOTCH1 PEST Domain Mutants in CancerReactome
4Signaling by NOTCH1 HD+PEST Domain Mutants in CancerReactome
5Constitutive Signaling by NOTCH1 PEST Domain MutantsReactome
6Signaling by NOTCH1 in CancerReactome
7NOTCH1 Intracellular Domain Regulates TranscriptionReactome

Gene overlap in member pathways for Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants SuperPath

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

Disorders associated with Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1T-cell acute lymphoblastic leukemiaDirect
2Adams-oliver syndromeEnrichmentDLL4, NOTCH1, RBPJ5.59
3Alzheimer disease 4EnrichmentPSEN1, PSEN24.27
4Tetralogy of fallotEnrichmentHEY2, JAG1, NOTCH13.75
5Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3003.74
6Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3003.74
7Early-onset autosomal dominant alzheimer diseaseEnrichmentPSEN1, PSEN23.43
8Myeloma, multipleEnrichmentCREBBP, HDAC4, NCOR23.00
9Rare genetic intellectual disabilityEnrichmentCREBBP, EP3002.90
10Diffuse large b-cell lymphomaEnrichmentCREBBP, TBL1XR12.70
11Heart, malformation ofEnrichmentCDK8, JAG12.58
12Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmiaEnrichmentHDAC62.45
13Hypothyroidism, congenital, nongoitrous, 8EnrichmentTBL1X2.45
14Chromosome 2q37 deletion syndromeEnrichmentHDAC42.45
15Auriculocondylar syndrome 4EnrichmentHDAC92.45
16Cornelia de lange syndrome 5EnrichmentHDAC82.45
17Hypospadias 2, x-linkedEnrichmentMAMLD12.45
18Neurodevelopmental disorder with or without early-onset generalized epilepsyEnrichmentNBEA2.45
19Menke-hennekam syndrome 1EnrichmentCREBBP2.45
20Neurodevelopmental disorder with central hypotonia and dysmorphic faciesEnrichmentHDAC42.45
21Developmental delay, hypotonia, and impaired languageEnrichmentFBXW72.45
22Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP2.45
23Menke-hennekam syndromeEnrichmentCREBBP2.45
2446,xy ovotesticular disorder of sex developmentEnrichmentMAMLD12.45
25Acne inversa, familial, 1EnrichmentNCSTN2.37
26Charcot-marie-tooth disease, axonal, type 2hhEnrichmentJAG12.37
27Adams-oliver syndrome 6EnrichmentDLL42.37
28Cardiomyopathy, dilated, 1vEnrichmentPSEN22.37
29Alzheimer disease 18EnrichmentADAM102.37
30Cardiomyopathy, dilated, 1uEnrichmentPSEN12.37
31Reticulate acropigmentation of kitamuraEnrichmentADAM102.37
32Acne inversa, familial, 2, with or without dowling-degos diseaseEnrichmentPSENEN2.37
33Acne inversa, familial, 3EnrichmentPSEN12.37
34Muscular dystrophy, limb-girdle, autosomal recessive 27EnrichmentJAG22.37
35Deafness, congenital heart defects, and posterior embryotoxonEnrichmentJAG12.37
36Pash syndromeEnrichmentNCSTN2.37
37Huntington's disease-likeEnrichmentPSEN22.37
38Congenital myopathy 12EnrichmentCNTN12.26
39Autoimmune disease, multisystem, with facial dysmorphismEnrichmentITCH2.26
40Syndromic multisystem autoimmune disease due to itch deficiencyEnrichmentITCH2.26
41Burkitt lymphomaEnrichmentMYC2.15
42Thumb deformityEnrichmentCREBBP2.15
43Ebstein anomalyEnrichmentCDK82.15
44Adams-oliver syndrome 5EnrichmentNOTCH12.15
45Syndactyly, type iiiEnrichmentHDAC82.15
46Adams-oliver syndrome 3EnrichmentRBPJ2.15
47Cerebellar, ocular, craniofacial, and genital syndromeEnrichmentNBEA2.15
48Menke-hennekam syndrome 2EnrichmentEP3002.15
49Wilson-turner syndromeEnrichmentHDAC82.15
50Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP2.15
51Intellectual developmental disorder with hypotonia and behavioral abnormalitiesEnrichmentCDK82.15
52Posterior hypospadiasEnrichmentMAMLD12.15
53X-linked myotubular myopathy-abnormal genitalia syndromeEnrichmentMAMLD12.15
54Submucosal cleft palateEnrichmentUBB2.15
55Cleft hard palateEnrichmentUBB2.15
56Alzheimer disease 3EnrichmentPSEN12.07
57Pick disease of brainEnrichmentPSEN12.07
58Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizuresEnrichmentDLL12.07
59Left ventricular noncompaction 7EnrichmentMIB12.07
60Inflammatory skin and bowel disease, neonatal, 1EnrichmentADAM172.07
61Left ventricular noncompactionEnrichmentMIB1, MIB22.01
62Familial thoracic aortic aneurysm and aortic dissectionEnrichmentHEY2, NOTCH11.98
63Uvula, bifidEnrichmentUBB1.98
64Pierpont syndromeEnrichmentTBL1XR11.98
65Cleft soft palateEnrichmentUBB1.98
66Tethered spinal cord syndromeEnrichmentCREBBP1.98
67High-grade b-cell lymphoma double-hit/triple-hitEnrichmentMYC1.98
68Intraocular pressure quantitative trait locusEnrichmentCREBBP1.98
69Intellectual developmental disorder, autosomal dominant 41EnrichmentTBL1XR11.98
70EnchondromatosisEnrichmentHIF1A1.98
71KeratoacanthomaEnrichmentNOTCH11.98
72Central precocious pubertyEnrichmentDLK11.96
73Alagille syndrome 1EnrichmentJAG11.89
74Neonatal inflammatory skin and bowel diseaseEnrichmentADAM171.89
75Precocious puberty, central, 2EnrichmentDLK11.79
76Dowling-degos disease 1EnrichmentADAM101.77
77Dowling-degos diseaseEnrichmentPSENEN1.77
78Middle aortic syndromeEnrichmentJAG11.77
79Enchondromatosis, multiple, ollier typeEnrichmentHIF1A1.76
80Rubinstein-taybi syndrome 2EnrichmentEP3001.76
81Pervasive developmental disorderEnrichmentFBXW71.76
82Rare pervasive developmental disorderEnrichmentFBXW71.76
83HypertrichosisEnrichmentCREBBP1.68
84Aplasia cutis congenitaEnrichmentDLL41.67
85DementiaEnrichmentPSEN11.67
86Familial isolated dilated cardiomyopathyEnrichmentPSEN1, PSEN21.67
87Kagami-ogata syndromeEnrichmentDLK11.66
88Temple syndromeEnrichmentDLK11.66
89Genetic central precocious puberty in maleEnrichmentDLK11.66
90Multiple enchondromatosis, maffucci typeEnrichmentHIF1A1.61
91Telangiectasia, hereditary hemorrhagic, type 1EnrichmentPSEN11.60
92AutismEnrichmentCREBBP, NBEA1.57
93Fanconi anemia, complementation group cEnrichmentHDAC81.55
94Hypoplastic left heart syndromeEnrichmentNOTCH11.55
95Semantic dementiaEnrichmentPSEN11.53
96Autosomal dominant non-syndromic intellectual disabilityEnrichmentDLL1, NBEA1.52
97Cornelia de lange syndrome 1EnrichmentHDAC81.50
98Charge syndromeEnrichmentEP3001.50
99Cornelia de lange syndromeEnrichmentHDAC81.50
100Progressive non-fluent aphasiaEnrichmentPSEN11.42
101Behavioral variant of frontotemporal dementiaEnrichmentPSEN11.42
102Colorectal cancerEnrichmentEP300, FBXW71.42
103Atrial heart septal defectEnrichmentHDAC81.42
104Interatrial communicationEnrichmentHDAC81.42
105Aortic valve disease 1EnrichmentNOTCH11.35
106Diaphragmatic hernia, congenitalEnrichmentCDK81.35
107Acute promyelocytic leukemiaEnrichmentTBL1XR11.35
108Frontotemporal dementia 1EnrichmentPSEN11.34
109Aortic aneurysm, familial thoracic 1EnrichmentNOTCH11.31
110Heart diseaseEnrichmentCREBBP1.31
111Polydactyly, postaxial, type a1EnrichmentEP3001.29
112Corpus callosum, agenesis ofEnrichmentCREBBP1.29
113Isolated corpus callosum agenesisEnrichmentCREBBP1.29
114Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP1.29
115Alzheimer's diseaseEnrichmentPSEN11.27
116Hydrocephalus, congenital, 1EnrichmentCDK81.26
117Polycystic kidney diseaseEnrichmentHDAC81.21
118Septopreoptic holoprosencephalyEnrichmentDLL11.21
119Midline interhemispheric variant of holoprosencephalyEnrichmentDLL11.21
120Microform holoprosencephalyEnrichmentDLL11.18
121Lobar holoprosencephalyEnrichmentDLL11.18
122MicrocephalyEnrichmentEP300, HDAC81.15
123Alzheimer disease, familial, 1EnrichmentPSEN11.15
124Alobar holoprosencephalyEnrichmentDLL11.15
125Semilobar holoprosencephalyEnrichmentDLL11.13
126Congenital nervous system abnormalityEnrichmentCREBBP, PSEN11.12
127Nervous system diseaseEnrichmentCREBBP, PSEN11.12
128Precursor t-cell acute lymphoblastic leukemiaEnrichmentMYC1.11
129ScoliosisEnrichmentCREBBP1.09
130HepatoblastomaEnrichmentJAG11.06
131Skin diseaseEnrichmentNCSTN1.05
132Connective tissue diseaseEnrichmentNOTCH10.97
133EpilepsyEnrichmentNBEA0.88
134Type 2 diabetes mellitusEnrichmentRBPJ0.86
135Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentPSEN10.66
136Autism spectrum disorderEnrichmentNBEA0.49
137Complex neurodevelopmental disorderEnrichmentCDK80.45
138Hereditary retinal dystrophyEnrichmentJAG10.15
139Fundus dystrophyEnrichmentJAG10.15

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