Notch-mediated HES/HEY network

No Pathway Network information available for Notch-mediated HES/HEY network

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

Disorders associated with Notch-mediated HES/HEY network SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Tetralogy of fallotEnrichmentGATA4, GATA6, HEY2, KDR, NOTCH17.70
2Acute basophilic leukemiaEnrichmentGATA1, MYB4.97
3Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK2, STAT34.49
4Congenital heart defects, multiple types, 4EnrichmentGATA4, GATA63.97
5Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3003.80
6Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3003.80
7Adams-oliver syndromeEnrichmentNOTCH1, RBPJ3.65
8Aortic aneurysm, familial thoracic 1EnrichmentGATA4, NOTCH13.02
9Heart diseaseEnrichmentCREBBP, GATA43.02
10Rare genetic intellectual disabilityEnrichmentCREBBP, EP3002.96
11Patent foramen ovaleEnrichmentGATA4, GATA62.80
12Diffuse large b-cell lymphomaEnrichmentCREBBP, STAT32.75
13Familial atrial fibrillationEnrichmentGATA4, GATA62.55
14Glycoprotein storage diseaseEnrichmentGAA2.48
15Prostate cancer, hereditary, x-linked 3EnrichmentAR2.48
16Androgen insensitivity, partialEnrichmentAR2.48
17Anemia, congenital, nonspherocytic hemolytic, 9EnrichmentGATA12.48
18Thrombocytopenia, x-linked, with or without dyserythropoietic anemiaEnrichmentGATA12.48
19Thrombocytopenia with beta-thalassemia, x-linkedEnrichmentGATA12.48
20Seckel syndrome 2EnrichmentRBBP82.48
21Diarrhea 4, malabsorptive, congenital, with diabetes mellitus and combined pituitary hormone deficiencyEnrichmentNEUROG32.48
22Pancreatic and cerebellar agenesisEnrichmentPTF1A2.48
23Atrioventricular septal defect 4EnrichmentGATA42.48
24Atrioventricular septal defect 5EnrichmentGATA62.48
25Agammaglobulinemia 8b, autosomal recessiveEnrichmentTCF32.48
26Anemia, x-linked, with or without neutropenia and/or platelet abnormalitiesEnrichmentGATA12.48
27Okt4 epitope deficiencyEnrichmentCD42.48
28Laron syndromeEnrichmentGHR2.48
29T-cell large granular lymphocyte leukemiaEnrichmentSTAT32.48
30Jawad syndromeEnrichmentRBBP82.48
31Growth hormone insensitivity, partialEnrichmentGHR2.48
32Agammaglobulinemia 8a, autosomal dominantEnrichmentTCF32.48
33Neuroendocrine tumorEnrichmentCDKN1B2.48
34Atrial septal defect 2EnrichmentGATA42.48
35Cleft palate, psychomotor retardation, and distinctive facial featuresEnrichmentKDM1A2.48
36Congenital myopathy 17EnrichmentMYOD12.48
37Testicular anomalies with or without congenital heart diseaseEnrichmentGATA42.48
38Radio-tartaglia syndromeEnrichmentSPEN2.48
39Atrial septal defect 9EnrichmentGATA62.48
40Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT32.48
418p23.1 microdeletion syndromeEnrichmentGATA42.48
42Menke-hennekam syndrome 1EnrichmentCREBBP2.48
43Immunodeficiency 79EnrichmentCD42.48
44Tufted angioma of skinEnrichmentKDR2.48
45Trilateral retinoblastomaEnrichmentRB12.48
46Acute megakaryoblastic leukemia in children with down syndromeEnrichmentGATA12.48
47Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeEnrichmentKDM1A2.48
48Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP2.48
49Thrombocytopenia with congenital dyserythropoietic anemiaEnrichmentGATA12.48
50Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT32.48
51Acth-independent macronodular adrenal hyperplasia 3EnrichmentKDM1A2.48
52Pompe disease, late-onsetEnrichmentGAA2.48
53Complete androgen insensitivity syndromeEnrichmentAR2.48
54Partial atrioventricular septal defect with ventricular hypoplasiaEnrichmentGATA42.48
55Menke-hennekam syndromeEnrichmentCREBBP2.48
56Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT32.48
57Lung oat cell carcinomaEnrichmentRB12.48
58Ovarian cancerEnrichmentAR, CDKN1B, RB12.34
59Myeloproliferative syndrome, transientEnrichmentGATA12.18
60Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactylyEnrichmentRUNX22.18
61Pancreas, dorsal, agenesis ofEnrichmentPTF1A2.18
62Robinow-sorauf syndromeEnrichmentTWIST12.18
63Thumb deformityEnrichmentCREBBP2.18
64Spinal and bulbar muscular atrophy, x-linked 1EnrichmentAR2.18
65Porphyria, congenital erythropoieticEnrichmentGATA12.18
66Kallikrein, decreased urinary activity ofEnrichmentPTF1A2.18
67Adams-oliver syndrome 5EnrichmentNOTCH12.18
68Growth hormone deficiency, isolated partialEnrichmentGHR2.18
69Chromosome 13q14 deletion syndromeEnrichmentRB12.18
70Angioma, tuftedEnrichmentKDR2.18
71Thrombocythemia 3EnrichmentJAK22.18
72Multiple endocrine neoplasia, type ivEnrichmentCDKN1B2.18
73Adams-oliver syndrome 3EnrichmentRBPJ2.18
74Neutropenia, severe congenital, 8, autosomal dominantEnrichmentGATA62.18
75Gabriele-de vries syndromeEnrichmentYY12.18
76Sweeney-cox syndromeEnrichmentTWIST12.18
77Hypotonia, ataxia, developmental delay, and tooth enamel defect syndromeEnrichmentCTBP12.18
7846,xy sex reversal 1EnrichmentAR2.18
79Androgen insensitivity syndromeEnrichmentAR2.18
80Menke-hennekam syndrome 2EnrichmentEP3002.18
81Hypospadias 1, x-linkedEnrichmentAR2.18
82Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP2.18
83Pancreatic agenesis 2EnrichmentPTF1A2.18
8446,xy sex reversal 3EnrichmentGATA42.18
85Angiocentric gliomaEnrichmentMYB2.18
86Developmental and epileptic encephalopathy 78EnrichmentYY12.18
87InsulinomaEnrichmentYY12.18
88PolycythemiaEnrichmentJAK22.18
89B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)EnrichmentTCF32.18
90Hypereosinophilic syndromeEnrichmentJAK22.18
91Posterior hypospadiasEnrichmentAR2.18
92Familial retinoblastomaEnrichmentRB12.18
93Non-syndromic sagittal craniosynostosisEnrichmentTWIST12.18
94B-lymphoblastic leukemia/lymphoma with t(17;19)EnrichmentTCF32.18
95Familial thoracic aortic aneurysm and aortic dissectionEnrichmentHEY2, NOTCH12.03
96Cleidocranial dysplasia 1EnrichmentRUNX22.00
97Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentSTAT32.00
98Craniosynostosis 1EnrichmentTWIST12.00
99RetinoblastomaEnrichmentRB12.00
100Glycogen storage disease ivEnrichmentGAA2.00
101Polycythemia veraEnrichmentJAK22.00
102Pompe disease, infantile-onsetEnrichmentGAA2.00
103Heart defects, congenital, and other congenital anomaliesEnrichmentGATA62.00
104Osteogenic sarcomaEnrichmentRB12.00
105Woolly hair, autosomal recessive 3EnrichmentRB12.00
106Hypotrichosis 8EnrichmentRB12.00
107Tethered spinal cord syndromeEnrichmentCREBBP2.00
108Hyper ige syndromeEnrichmentSTAT32.00
109Cleidocranial dysplasiaEnrichmentRUNX22.00
110Squamous cell carcinomaEnrichmentRB12.00
111Intraocular pressure quantitative trait locusEnrichmentCREBBP2.00
112Bone osteosarcomaEnrichmentRB12.00
113Adenoid cystic carcinomaEnrichmentMYB2.00
114Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentKDM1A2.00
115EnchondromatosisEnrichmentHIF1A2.00
116KeratoacanthomaEnrichmentNOTCH12.00
117Erythrocytosis, familial, 1EnrichmentJAK21.88
118Small cell cancer of the lungEnrichmentRB11.88
119Glycogen storage disease iaEnrichmentGAA1.88
120Down syndromeEnrichmentGATA11.88
121Budd-chiari syndromeEnrichmentJAK21.88
122Saethre-chotzen syndromeEnrichmentTWIST11.88
123Lynch syndrome 4EnrichmentRB11.88
124Non-syndromic bicoronal craniosynostosisEnrichmentTWIST11.88
125Primary hyperparathyroidismEnrichmentCDKN1B1.88
126Transposition of the great arteriesEnrichmentGATA41.88
127Haddad syndromeEnrichmentASCL11.88
128Middle aortic syndromeEnrichmentGATA61.88
129Myeloma, multipleEnrichmentCREBBP, TCF31.83
130Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentAR, GATA41.83
131Primary ovarian insufficiencyEnrichmentJAK2, KDR1.79
132Enchondromatosis, multiple, ollier typeEnrichmentHIF1A1.78
133Rubinstein-taybi syndrome 2EnrichmentEP3001.78
134Ventricular septal defect 1EnrichmentGATA41.78
135Myeloproliferative neoplasmEnrichmentJAK21.78
136Acute megakaryocytic leukemiaEnrichmentGATA11.78
137Persistent truncus arteriosusEnrichmentGATA61.78
138Myopathy, centronuclear, 1EnrichmentMYOD11.70
139Wolf-hirschhorn syndromeEnrichmentCTBP11.70
140Conotruncal heart malformationsEnrichmentGATA61.70
141Hemangioma, capillary infantileEnrichmentKDR1.70
142HypertrichosisEnrichmentCREBBP1.70
143Multiple endocrine neoplasia, type iEnrichmentCDKN1B1.64
144MyelofibrosisEnrichmentJAK21.64
145Multiple enchondromatosis, maffucci typeEnrichmentHIF1A1.64
146Essential thrombocythemiaEnrichmentJAK21.64
147Permanent neonatal diabetes mellitusEnrichmentSTAT31.58
148Hypoplastic left heart syndromeEnrichmentNOTCH11.58
149Difference of sex developmentEnrichmentAR1.58
150Charge syndromeEnrichmentEP3001.53
151Leukemia, acute lymphoblastic 3EnrichmentJAK21.53
152Autosomal non-syndromic agammaglobulinemiaEnrichmentTCF31.49
15346,xy complete gonadal dysgenesisEnrichmentAR1.44
154Glycogen storage diseaseEnrichmentGAA1.44
155Specific learning disabilityEnrichmentGHR1.44
156Lip and oral cavity carcinomaEnrichmentRB11.41
157Aortic valve disease 1EnrichmentNOTCH11.37
158Diaphragmatic hernia, congenitalEnrichmentGATA61.37
159Hypercholesterolemia, familial, 1EnrichmentGHR1.37
160Acute promyelocytic leukemiaEnrichmentSTAT31.37
161Chromosome 1p36 deletion syndromeEnrichmentSPEN1.37
162Protein-deficiency anemiaEnrichmentGATA11.37
163Lung cancer susceptibility 3EnrichmentRB11.34
164Seckel syndromeEnrichmentRBBP81.34
16546,xy partial gonadal dysgenesisEnrichmentGATA41.34
166Polydactyly, postaxial, type a1EnrichmentEP3001.31
167Corpus callosum, agenesis ofEnrichmentCREBBP1.31
168Familial hypercholesterolemiaEnrichmentGHR1.31
169Isolated corpus callosum agenesisEnrichmentCREBBP1.31
170Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP1.31
171Creatine phosphokinase, elevated serumEnrichmentGAA1.29
172Isolated elevated serum creatine phosphokinase levelsEnrichmentGAA1.29
173Heart, malformation ofEnrichmentGATA41.24
174Maturity-onset diabetes of the youngEnrichmentPTF1A1.19
175Inherited cancer-predisposing syndromeEnrichmentCDKN1B, RB11.15
176Diamond-blackfan anemia 1EnrichmentGATA11.13
177Precursor t-cell acute lymphoblastic leukemiaEnrichmentMYB1.13
178ScoliosisEnrichmentCREBBP1.12
179Pancreatic cancerEnrichmentRBBP81.10
180Bladder cancerEnrichmentRB11.04
181Prostate cancerEnrichmentAR1.04
182Connective tissue diseaseEnrichmentNOTCH11.00
183Male infertilityEnrichmentAR0.97
184Diamond-blackfan anemiaEnrichmentGATA10.95
185Fetal akinesia deformation sequence 1EnrichmentMYOD10.94
186Leukemia, acute myeloidEnrichmentJAK20.90
187MyopathyEnrichmentGAA0.90
188Type 2 diabetes mellitusEnrichmentRBPJ0.88
189Distal arthrogryposisEnrichmentMYOD10.88
190Nephrotic syndromeEnrichmentRUNX20.88
191ThrombocytopeniaEnrichmentGATA10.83
192AutismEnrichmentCREBBP0.67
193Rare genetic deafnessEnrichmentGAA0.64
194Dilated cardiomyopathyEnrichmentGATA60.63
195Colorectal cancerEnrichmentEP3000.60
196Congenital nervous system abnormalityEnrichmentCREBBP0.53
197Nervous system diseaseEnrichmentCREBBP0.53
198Autism spectrum disorderEnrichmentSPEN0.52
199MicrocephalyEnrichmentEP3000.47

Loading...
Loading...
Loading...