Presenilin action in Notch and Wnt signaling

No Pathway Network information available for Presenilin action in Notch and Wnt signaling

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

Disorders associated with Presenilin action in Notch and Wnt signaling SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Desmoid disease, hereditaryEnrichmentAPC, CTNNB14.47
2Osteoporosis, juvenileEnrichmentDKK1, WNT14.47
3Desmoid tumorEnrichmentAPC, CTNNB14.47
4Hepatocellular carcinomaEnrichmentAPC, AXIN1, CTNNB14.27
5CraniopharyngiomaEnrichmentAPC, CTNNB14.17
6Adams-oliver syndromeEnrichmentNOTCH1, RBPJ3.63
7Adult hepatocellular carcinomaEnrichmentAXIN1, CTNNB13.40
8MedulloblastomaEnrichmentAPC, CTNNB13.00
9Polycystic liver diseaseEnrichmentCTNNB1, LRP62.83
10Autosomal dominant polycystic liver diseaseEnrichmentCTNNB1, LRP62.83
11Breast cancerEnrichmentAPC, HNF1A, JUN2.68
12HepatoblastomaEnrichmentAPC, CTNNB12.64
13Colorectal cancerEnrichmentAPC, CCND1, CTNNB12.50
14Chiari malformation type iEnrichmentDKK12.47
15Cardiospondylocarpofacial syndromeEnrichmentMAP3K72.47
16Hepatic adenomas, familialEnrichmentHNF1A2.47
17Acne inversa, familial, 1EnrichmentNCSTN2.47
18Tooth agenesis, selective, 7EnrichmentLRP62.47
19Caudal duplication anomalyEnrichmentAXIN12.47
20Frontometaphyseal dysplasia 2EnrichmentMAP3K72.47
21Exudative vitreoretinopathy 8EnrichmentLRP62.47
22Noonan syndrome 13EnrichmentMAPK12.47
23Neurodevelopmental, jaw, eye, and digital syndromeEnrichmentFBXW112.47
24Coronary artery disease, autosomal dominant 2EnrichmentLRP62.47
25Bone mineral density quantitative trait locus 16EnrichmentWNT12.47
26Alzheimer disease 18EnrichmentADAM102.47
27Cardiomyopathy, dilated, 1uEnrichmentPSEN12.47
28Reticulate acropigmentation of kitamuraEnrichmentADAM102.47
29Acne inversa, familial, 2, with or without dowling-degos diseaseEnrichmentPSENEN2.47
30Type 1 diabetes mellitus 20EnrichmentHNF1A2.47
31Acne inversa, familial, 3EnrichmentPSEN12.47
32Okur-chung neurodevelopmental syndromeEnrichmentCSNK2A12.47
33Menke-hennekam syndrome 1EnrichmentCREBBP2.47
34Craniometadiaphyseal osteosclerosis with hip dysplasiaEnrichmentAXIN12.47
35Adenoid ameloblastomaEnrichmentCTNNB12.47
36Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP2.47
37Familial adenomatous polyposisEnrichmentAPC2.47
38Menke-hennekam syndromeEnrichmentCREBBP2.47
39Gardner syndromeEnrichmentAPC2.47
405q22 microdeletion syndromeEnrichmentAPC2.47
41Pash syndromeEnrichmentNCSTN2.47
42Attenuated familial adenomatous polyposisEnrichmentAPC2.47
43Microcystic stromal tumorEnrichmentCTNNB12.47
44Ovarian cancerEnrichmentAPC, CTNNB1, HNF1A2.32
45Congenital nervous system abnormalityEnrichmentCREBBP, CTNNB1, PSEN12.26
46Nervous system diseaseEnrichmentCREBBP, CTNNB1, PSEN12.26
47Burkitt lymphomaEnrichmentMYC2.17
48Thumb deformityEnrichmentCREBBP2.17
49Osteopathia striata with cranial sclerosisEnrichmentCTNNB12.17
50Alzheimer disease 3EnrichmentPSEN12.17
51Pick disease of brainEnrichmentPSEN12.17
52Osteogenesis imperfecta, type xvEnrichmentWNT12.17
53Adams-oliver syndrome 5EnrichmentNOTCH12.17
54Houge-janssens syndrome 1EnrichmentPPP2R5D2.17
55Adams-oliver syndrome 3EnrichmentRBPJ2.17
56Hypotonia, ataxia, developmental delay, and tooth enamel defect syndromeEnrichmentCTBP12.17
57Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizuresEnrichmentDLL12.17
58Childhood hepatocellular carcinomaEnrichmentCTNNB12.17
59Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP2.17
60Periampullary adenomaEnrichmentAPC2.17
61Gastric adenocarcinoma and proximal polyposis of the stomachEnrichmentAPC2.17
62Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB12.17
63Hyperinsulinism due to hnf1a deficiencyEnrichmentHNF1A2.17
64TeratomaEnrichmentCTNNB12.17
65Type 2 diabetes mellitusEnrichmentHNF1A, RBPJ2.05
66Alzheimer disease 4EnrichmentPSEN11.99
67Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.99
68Cenani-lenz syndactyly syndromeEnrichmentAPC1.99
69Anus, imperforateEnrichmentCTNNB11.99
70Exudative vitreoretinopathy 7EnrichmentCTNNB11.99
71Keratoderma-ichthyosis-deafness syndrome, autosomal recessiveEnrichmentHNF1A1.99
72Tethered spinal cord syndromeEnrichmentCREBBP1.99
73High-grade b-cell lymphoma double-hit/triple-hitEnrichmentMYC1.99
74Frontometaphyseal dysplasiaEnrichmentMAP3K71.99
75Chromophobe renal cell carcinomaEnrichmentHNF1A1.99
76Intraocular pressure quantitative trait locusEnrichmentCREBBP1.99
77Colon adenocarcinomaEnrichmentAPC1.99
78KeratoacanthomaEnrichmentNOTCH11.99
79Apc-associated polyposis conditionsEnrichmentAPC1.99
80Dowling-degos disease 1EnrichmentADAM101.87
81Robinow syndrome, autosomal dominant 1EnrichmentDVL11.87
82Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.87
83Maturity-onset diabetes of the young, type 3EnrichmentHNF1A1.87
84PilomatrixomaEnrichmentCTNNB11.87
85Alazami syndromeEnrichmentCTNNB11.87
86Congenital generalized lipodystrophyEnrichmentFOS1.87
87Mantle cell lymphomaEnrichmentCCND11.87
88Dowling-degos diseaseEnrichmentPSENEN1.87
89Orofacial cleftEnrichmentLRP61.87
90Autosomal dominant robinow syndromeEnrichmentDVL11.87
91Orofacial clefting syndromeEnrichmentLRP61.87
92Clear cell papillary renal cell carcinomaEnrichmentHNF1A1.87
93Myeloma, multipleEnrichmentCCND1, CREBBP1.81
94Exudative vitreoretinopathy 1EnrichmentCTNNB11.77
95Von hippel-lindau syndromeEnrichmentCCND11.77
96Robinow syndrome, autosomal recessive 1EnrichmentDVL11.77
97Familial adenomatous polyposis 1EnrichmentAPC1.77
98Robinow syndrome, autosomal dominant 2EnrichmentDVL11.77
99Histiocytoid hemangiomaEnrichmentFOS1.77
100DementiaEnrichmentPSEN11.77
101Weyers acrofacial dysostosisEnrichmentCTNNB11.70
102Wolf-hirschhorn syndromeEnrichmentCTBP11.70
103Telangiectasia, hereditary hemorrhagic, type 1EnrichmentPSEN11.70
104Rubinstein-taybi syndrome 1EnrichmentCREBBP1.70
105Type 1 diabetes mellitusEnrichmentHNF1A1.70
106Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP1.70
107Autosomal recessive robinow syndromeEnrichmentDVL11.70
108Adrenocortical carcinomaEnrichmentCTNNB11.70
109Clear cell renal cell carcinomaEnrichmentHNF1A1.70
110HypertrichosisEnrichmentCREBBP1.70
111Semantic dementiaEnrichmentPSEN11.63
112Gallbladder cancerEnrichmentCTNNB11.63
113Early-onset autosomal dominant alzheimer diseaseEnrichmentPSEN11.63
114Exudative vitreoretinopathyEnrichmentCTNNB11.57
115Hypoplastic left heart syndromeEnrichmentNOTCH11.57
116Isolated split hand-split foot malformationEnrichmentBTRC1.57
117Progressive non-fluent aphasiaEnrichmentPSEN11.52
118Colonic benign neoplasmEnrichmentAPC1.52
119Behavioral variant of frontotemporal dementiaEnrichmentPSEN11.52
120Leukemia, chronic lymphocyticEnrichmentCCND11.48
121Frontotemporal dementia 1EnrichmentPSEN11.44
122Diabetes mellitusEnrichmentHNF1A1.44
123Specific learning disabilityEnrichmentMAPK11.44
124Digeorge syndromeEnrichmentHNF1A1.40
125Aortic valve disease 1EnrichmentNOTCH11.36
126Osteogenesis imperfecta, type ivEnrichmentWNT11.36
127Alzheimer's diseaseEnrichmentPSEN11.36
128OsteoporosisEnrichmentWNT11.33
129Aortic aneurysm, familial thoracic 1EnrichmentNOTCH11.33
130Heart diseaseEnrichmentCREBBP1.33
131Renal cell carcinoma, nonpapillaryEnrichmentHNF1A1.30
132Corpus callosum, agenesis ofEnrichmentCREBBP1.30
133Osteogenesis imperfecta, type iiiEnrichmentWNT11.30
134Isolated corpus callosum agenesisEnrichmentCREBBP1.30
135Rare genetic intellectual disabilityEnrichmentCREBBP1.30
136Septopreoptic holoprosencephalyEnrichmentDLL11.30
137Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP1.30
138Midline interhemispheric variant of holoprosencephalyEnrichmentDLL11.30
139Microform holoprosencephalyEnrichmentDLL11.28
140Lobar holoprosencephalyEnrichmentDLL11.28
141Alzheimer disease, familial, 1EnrichmentPSEN11.25
142Alobar holoprosencephalyEnrichmentDLL11.25
143Heart, malformation ofEnrichmentMAPK11.23
144Semilobar holoprosencephalyEnrichmentDLL11.23
145Diffuse large b-cell lymphomaEnrichmentCREBBP1.20
146MicrocephalyEnrichmentCTNNB1, MAPK11.19
147Maturity-onset diabetes of the youngEnrichmentHNF1A1.18
148Complex neurodevelopmental disorderEnrichmentCSNK2A1, FBXW111.18
149Tooth agenesisEnrichmentLRP61.14
150Skin diseaseEnrichmentNCSTN1.14
151Brittle bone disorderEnrichmentWNT11.12
152Precursor t-cell acute lymphoblastic leukemiaEnrichmentMYC1.12
153ScoliosisEnrichmentCREBBP1.11
154Tetralogy of fallotEnrichmentNOTCH11.07
155Bladder cancerEnrichmentCTNNB11.03
156Connective tissue diseaseEnrichmentNOTCH10.99
157Gastric cancerEnrichmentAPC0.87
158Familial thoracic aortic aneurysm and aortic dissectionEnrichmentNOTCH10.86
159Hereditary breast carcinomaEnrichmentAPC0.86
160Autosomal dominant non-syndromic intellectual disabilityEnrichmentDLL10.81
161Familial isolated dilated cardiomyopathyEnrichmentPSEN10.78
162Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentPSEN10.75
163AutismEnrichmentCREBBP0.66
164Autism spectrum disorderEnrichmentCSNK2A10.51
165Inherited cancer-predisposing syndromeEnrichmentAPC0.44

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