Notch signaling (WikiPathways)

No Pathway Network information available for Notch signaling (WikiPathways)

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

Disorders associated with Notch signaling (WikiPathways) SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Adams-oliver syndromeEnrichmentDLL4, NOTCH1, RBPJ5.93
2Alzheimer disease 4EnrichmentPSEN1, PSEN24.49
3KeratoacanthomaEnrichmentNOTCH1, NOTCH24.49
4Robinow syndrome, autosomal dominant 1EnrichmentDVL1, DVL34.19
5Autosomal dominant robinow syndromeEnrichmentDVL1, DVL34.19
6Robinow syndrome, autosomal recessive 1EnrichmentDVL1, DVL33.97
7Robinow syndrome, autosomal dominant 2EnrichmentDVL1, DVL33.97
8Autosomal recessive robinow syndromeEnrichmentDVL1, DVL33.80
9Spondylocostal dysostosis, autosomal recessiveEnrichmentDLL3, LFNG3.80
10Early-onset autosomal dominant alzheimer diseaseEnrichmentPSEN1, PSEN23.65
11Spondylocostal dysostosis 3, autosomal recessiveEnrichmentLFNG2.48
12Long qt syndrome 13EnrichmentKCNJ52.48
13Hajdu-cheney syndromeEnrichmentNOTCH22.48
14Alagille syndrome 2EnrichmentNOTCH22.48
15Acne inversa, familial, 1EnrichmentNCSTN2.48
16Lateral meningocele syndromeEnrichmentNOTCH32.48
17Charcot-marie-tooth disease, axonal, type 2hhEnrichmentJAG12.48
18Adams-oliver syndrome 6EnrichmentDLL42.48
19Hyperaldosteronism, familial, type iiiEnrichmentKCNJ52.48
20Cardiomyopathy, dilated, 1vEnrichmentPSEN22.48
21Cardiomyopathy, dilated, 1uEnrichmentPSEN12.48
22Myofibromatosis, infantile, 2EnrichmentNOTCH32.48
23Acne inversa, familial, 3EnrichmentPSEN12.48
24Muscular dystrophy, congenital, with cataracts and impaired intellectual developmentEnrichmentINPP5K2.48
25Muscular dystrophy, limb-girdle, autosomal recessive 27EnrichmentJAG22.48
26Deafness, congenital heart defects, and posterior embryotoxonEnrichmentJAG12.48
27Menke-hennekam syndrome 1EnrichmentCREBBP2.48
28Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP2.48
29Immunodeficiency 126EnrichmentPTCRA2.48
30Transient cerebral ischemiaEnrichmentNOTCH32.48
31Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1EnrichmentNOTCH32.48
32Menke-hennekam syndromeEnrichmentCREBBP2.48
33Pash syndromeEnrichmentNCSTN2.48
34Huntington's disease-likeEnrichmentPSEN22.48
35Tetralogy of fallotEnrichmentJAG1, NOTCH12.48
36Andersen cardiodysrhythmic periodic paralysisEnrichmentKCNJ52.18
37Thumb deformityEnrichmentCREBBP2.18
38Alzheimer disease 3EnrichmentPSEN12.18
39Pick disease of brainEnrichmentPSEN12.18
40Adams-oliver syndrome 5EnrichmentNOTCH12.18
41Robinow syndrome, autosomal dominant 3EnrichmentDVL32.18
42Adams-oliver syndrome 3EnrichmentRBPJ2.18
43Hypotonia, ataxia, developmental delay, and tooth enamel defect syndromeEnrichmentCTBP12.18
44Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizuresEnrichmentDLL12.18
45Infantile myofibromatosisEnrichmentNOTCH32.18
46Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP2.18
47Lipodystrophy, familial partial, type 1EnrichmentNOTCH32.18
48Depressive disorderEnrichmentNOTCH32.18
49Inflammatory skin and bowel disease, neonatal, 1EnrichmentADAM172.18
50Type 2 diabetes mellitusEnrichmentRBPJ, RBPJL2.07
51Alagille syndrome 1EnrichmentJAG12.00
52Tethered spinal cord syndromeEnrichmentCREBBP2.00
53Leukodystrophy and acquired microcephaly with or without dystoniaEnrichmentDLL32.00
54Intraocular pressure quantitative trait locusEnrichmentCREBBP2.00
55Migraine without auraEnrichmentNOTCH32.00
56Neonatal inflammatory skin and bowel diseaseEnrichmentADAM172.00
57Acyl-coa dehydrogenase, very long-chain, deficiency ofEnrichmentDVL21.88
58Cerebrovascular diseaseEnrichmentNOTCH31.88
59Middle aortic syndromeEnrichmentJAG11.88
60Familial isolated dilated cardiomyopathyEnrichmentPSEN1, PSEN21.88
61Myeloma, multipleEnrichmentCREBBP, NCOR21.83
62Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1EnrichmentNOTCH31.78
63Aplasia cutis congenitaEnrichmentDLL41.78
64Vascular dementiaEnrichmentNOTCH31.78
65DementiaEnrichmentPSEN11.78
66Wolf-hirschhorn syndromeEnrichmentCTBP11.70
67Telangiectasia, hereditary hemorrhagic, type 1EnrichmentPSEN11.70
68Rubinstein-taybi syndrome 1EnrichmentCREBBP1.70
69Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP1.70
70HypertrichosisEnrichmentCREBBP1.70
71Semantic dementiaEnrichmentPSEN11.64
72Spondylocostal dysostosis 1, autosomal recessiveEnrichmentDLL31.58
73Hypoplastic left heart syndromeEnrichmentNOTCH11.58
74Progressive non-fluent aphasiaEnrichmentPSEN11.53
75Behavioral variant of frontotemporal dementiaEnrichmentPSEN11.53
76Stroke, ischemicEnrichmentNOTCH31.49
77Migraine with or without aura 1EnrichmentNOTCH31.44
78Frontotemporal dementia 1EnrichmentPSEN11.44
79Aortic valve disease 1EnrichmentNOTCH11.37
80Alzheimer's diseaseEnrichmentPSEN11.37
81Aortic aneurysm, familial thoracic 1EnrichmentNOTCH11.34
82Heart diseaseEnrichmentCREBBP1.34
83Congenital nervous system abnormalityEnrichmentCREBBP, PSEN11.32
84Nervous system diseaseEnrichmentCREBBP, PSEN11.32
85Corpus callosum, agenesis ofEnrichmentCREBBP1.31
86Isolated corpus callosum agenesisEnrichmentCREBBP1.31
87Rare genetic intellectual disabilityEnrichmentCREBBP1.31
88Septopreoptic holoprosencephalyEnrichmentDLL11.31
89Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP1.31
90Midline interhemispheric variant of holoprosencephalyEnrichmentDLL11.31
91Microform holoprosencephalyEnrichmentDLL11.29
92Lobar holoprosencephalyEnrichmentDLL11.29
93Alzheimer disease, familial, 1EnrichmentPSEN11.26
94Alobar holoprosencephalyEnrichmentDLL11.26
95Heart, malformation ofEnrichmentJAG11.24
96Semilobar holoprosencephalyEnrichmentDLL11.24
97Diffuse large b-cell lymphomaEnrichmentCREBBP1.21
98HepatoblastomaEnrichmentJAG11.17
99Skin diseaseEnrichmentNCSTN1.15
100Familial atrial fibrillationEnrichmentKCNJ51.12
101ScoliosisEnrichmentCREBBP1.12
102Auditory neuropathyEnrichmentNOTCH31.08
103Long qt syndrome 1EnrichmentKCNJ51.02
104Long qt syndromeEnrichmentKCNJ51.01
105Connective tissue diseaseEnrichmentNOTCH11.00
106Familial thoracic aortic aneurysm and aortic dissectionEnrichmentNOTCH10.87
107Autosomal dominant non-syndromic intellectual disabilityEnrichmentDLL10.81
108Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentPSEN10.76
109Primary ovarian insufficiencyEnrichmentNOTCH20.75
110AutismEnrichmentCREBBP0.67
111Hereditary retinal dystrophyEnrichmentJAG10.21
112Fundus dystrophyEnrichmentJAG10.21

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