Notch signaling pathway (Pathway Interaction Database)

No Pathway Network information available for Notch signaling pathway (Pathway Interaction Database)

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

Disorders associated with Notch signaling pathway (Pathway Interaction Database) SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Adams-oliver syndromeEnrichmentDLL4, NOTCH1, RBPJ5.69
2KeratoacanthomaEnrichmentNOTCH1, NOTCH24.33
3Seckel syndrome 2EnrichmentRBBP82.40
4Hajdu-cheney syndromeEnrichmentNOTCH22.40
5Alagille syndrome 2EnrichmentNOTCH22.40
6Acne inversa, familial, 1EnrichmentNCSTN2.40
7Lateral meningocele syndromeEnrichmentNOTCH32.40
8Congenital myopathy 12EnrichmentCNTN12.40
9Charcot-marie-tooth disease, axonal, type 2hhEnrichmentJAG12.40
10Adams-oliver syndrome 6EnrichmentDLL42.40
11Intellectual developmental disorder, autosomal dominant 76EnrichmentMARK22.40
12Aortic aneurysm, familial thoracic 9EnrichmentMFAP52.40
13Jawad syndromeEnrichmentRBBP82.40
14Alzheimer disease 18EnrichmentADAM102.40
15Autoimmune disease, multisystem, with facial dysmorphismEnrichmentITCH2.40
16Cleft palate, psychomotor retardation, and distinctive facial featuresEnrichmentKDM1A2.40
17Reticulate acropigmentation of kitamuraEnrichmentADAM102.40
18Myofibromatosis, infantile, 2EnrichmentNOTCH32.40
19Radio-tartaglia syndromeEnrichmentSPEN2.40
20Acne inversa, familial, 2, with or without dowling-degos diseaseEnrichmentPSENEN2.40
21Muscular dystrophy, limb-girdle, autosomal recessive 27EnrichmentJAG22.40
22Deafness, congenital heart defects, and posterior embryotoxonEnrichmentJAG12.40
23Developmental delay, hypotonia, and impaired languageEnrichmentFBXW72.40
24Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeEnrichmentKDM1A2.40
25Immunodeficiency 126EnrichmentPTCRA2.40
26Syndromic multisystem autoimmune disease due to itch deficiencyEnrichmentITCH2.40
27Transient cerebral ischemiaEnrichmentNOTCH32.40
28Acth-independent macronodular adrenal hyperplasia 3EnrichmentKDM1A2.40
29Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1EnrichmentNOTCH32.40
30Pash syndromeEnrichmentNCSTN2.40
31Tetralogy of fallotEnrichmentJAG1, NOTCH12.32
32Colorectal cancerEnrichmentCCND1, EP300, FBXW72.30
33Burkitt lymphomaEnrichmentMYC2.10
34Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndromeEnrichmentGATA32.10
35Ovarian germ cell cancerEnrichmentCBL2.10
36Adams-oliver syndrome 5EnrichmentNOTCH12.10
37Adams-oliver syndrome 3EnrichmentRBPJ2.10
38Gabriele-de vries syndromeEnrichmentYY12.10
39Hypotonia, ataxia, developmental delay, and tooth enamel defect syndromeEnrichmentCTBP12.10
40Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizuresEnrichmentDLL12.10
41Menke-hennekam syndrome 2EnrichmentEP3002.10
42Infantile myofibromatosisEnrichmentNOTCH32.10
43Left ventricular noncompaction 7EnrichmentMIB12.10
44Central precocious pubertyEnrichmentDLK12.10
45Lipodystrophy, familial partial, type 1EnrichmentNOTCH32.10
46Depressive disorderEnrichmentNOTCH32.10
47Developmental and epileptic encephalopathy 78EnrichmentYY12.10
48InsulinomaEnrichmentYY12.10
49B-lymphoblastic leukemia/lymphoma with hyperdiploidyEnrichmentGATA32.10
50Hypoparathyroidism-deafness-renal disease syndromeEnrichmentGATA32.10
51Autosomal dominant nonsyndromic deafnessEnrichmentGATA32.10
52Malignant germ cell tumor of ovaryEnrichmentCBL2.10
53Autism spectrum disorderEnrichmentCNTN6, MARK2, SPEN2.03
54Alagille syndrome 1EnrichmentJAG11.92
55Developmental and epileptic encephalopathy 31bEnrichmentDNM11.92
56High-grade b-cell lymphoma double-hit/triple-hitEnrichmentMYC1.92
57Precocious puberty, central, 2EnrichmentDLK11.92
58Leukodystrophy and acquired microcephaly with or without dystoniaEnrichmentDLL31.92
59Migraine without auraEnrichmentNOTCH31.92
60End stage renal diseaseEnrichmentGATA31.92
61Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentKDM1A1.92
62Familial thoracic aortic aneurysm and aortic dissectionEnrichmentMFAP5, NOTCH11.88
63Dowling-degos disease 1EnrichmentADAM101.80
64Kagami-ogata syndromeEnrichmentDLK11.80
65Temple syndromeEnrichmentDLK11.80
66Mantle cell lymphomaEnrichmentCCND11.80
67Dowling-degos diseaseEnrichmentPSENEN1.80
68Cerebrovascular diseaseEnrichmentNOTCH31.80
69Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCBL1.80
70Genetic central precocious puberty in maleEnrichmentDLK11.80
71Middle aortic syndromeEnrichmentJAG11.80
72Autosomal dominant non-syndromic intellectual disabilityEnrichmentDLL1, RAB11A1.77
73Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1EnrichmentNOTCH31.70
74Von hippel-lindau syndromeEnrichmentCCND11.70
75Developmental and epileptic encephalopathy 31aEnrichmentDNM11.70
76Rubinstein-taybi syndrome 2EnrichmentEP3001.70
77Pervasive developmental disorderEnrichmentFBXW71.70
78Myeloproliferative neoplasmEnrichmentCBL1.70
79Aplasia cutis congenitaEnrichmentDLL41.70
80Vascular dementiaEnrichmentNOTCH31.70
81Aggressive systemic mastocytosisEnrichmentCBL1.70
82Rare pervasive developmental disorderEnrichmentFBXW71.70
83Wolf-hirschhorn syndromeEnrichmentCTBP11.63
84Rubinstein-taybi syndrome 1EnrichmentEP3001.63
85Chromosome 16p13.3 deletion syndrome, proximalEnrichmentEP3001.63
86Spondylocostal dysostosis, autosomal recessiveEnrichmentDLL31.63
87Multiple endocrine neoplasia, type iEnrichmentCDKN1A1.56
88Spondylocostal dysostosis 1, autosomal recessiveEnrichmentDLL31.50
89Lennox-gastaut syndromeEnrichmentDNM11.50
90Hypoplastic left heart syndromeEnrichmentNOTCH11.50
91Isolated split hand-split foot malformationEnrichmentBTRC1.50
92Charge syndromeEnrichmentEP3001.45
93Leukemia, chronic lymphocyticEnrichmentCCND11.41
94Stroke, ischemicEnrichmentNOTCH31.41
95Migraine with or without aura 1EnrichmentNOTCH31.37
96Juvenile myelomonocytic leukemiaEnrichmentCBL1.33
97Aortic valve disease 1EnrichmentNOTCH11.30
98Chromosome 1p36 deletion syndromeEnrichmentSPEN1.30
99Stereotypic movement disorderEnrichmentDNM11.30
100Aortic aneurysm, familial thoracic 1EnrichmentNOTCH11.26
101Seckel syndromeEnrichmentRBBP81.26
102Polydactyly, postaxial, type a1EnrichmentEP3001.24
103Rare genetic intellectual disabilityEnrichmentEP3001.24
104Septopreoptic holoprosencephalyEnrichmentDLL11.24
105Midline interhemispheric variant of holoprosencephalyEnrichmentDLL11.24
106Noonan syndrome and noonan-related syndromeEnrichmentCBL1.24
107RhabdomyosarcomaEnrichmentCBL1.21
108Isolated congenital microcephalyEnrichmentRAB11A1.21
109Microform holoprosencephalyEnrichmentDLL11.21
110Lobar holoprosencephalyEnrichmentDLL11.21
111Alobar holoprosencephalyEnrichmentDLL11.18
112Heart, malformation ofEnrichmentJAG11.16
113Semilobar holoprosencephalyEnrichmentDLL11.16
114HepatoblastomaEnrichmentJAG11.09
115Skin diseaseEnrichmentNCSTN1.08
116Noonan syndrome 1EnrichmentCBL1.06
117Precursor t-cell acute lymphoblastic leukemiaEnrichmentMYC1.06
118Pancreatic cancerEnrichmentRBBP81.02
119RasopathyEnrichmentCBL1.01
120Auditory neuropathyEnrichmentNOTCH31.01
121Bladder cancerEnrichmentCDKN1A0.96
122Connective tissue diseaseEnrichmentNOTCH10.92
123CakutEnrichmentGATA30.90
124Left ventricular noncompactionEnrichmentMIB10.88
125Type 2 diabetes mellitusEnrichmentRBPJ0.81
126West syndromeEnrichmentDNM10.79
127Myeloma, multipleEnrichmentCCND10.70
128Undetermined early-onset epileptic encephalopathyEnrichmentDNM10.70
129SchizophreniaEnrichmentCNTN60.68
130Primary ovarian insufficiencyEnrichmentNOTCH20.68
131AutismEnrichmentCNTN60.60
132MicrocephalyEnrichmentEP3000.41
133Hereditary retinal dystrophyEnrichmentJAG10.16
134Fundus dystrophyEnrichmentJAG10.16

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