Endothelin pathways

No Pathway Network information available for Endothelin pathways

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

Disorders associated with Endothelin pathways SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Noonan syndrome and noonan-related syndromeEnrichmentMAP2K1, RAF13.23
2Alzheimer disease 2EnrichmentNOS33.13
3Pre-eclampsiaEnrichmentNOS33.13
4Hypertension, essentialEnrichmentECE1, NOS33.12
5Mitochondrial myopathy, infantile, transientEnrichmentMT-CO22.88
6Noonan syndrome 1EnrichmentMAP2K1, RAF12.85
7Stroke, ischemicEnrichmentNOS32.83
8Familial colorectal cancerEnrichmentMT-CO22.83
9Mitochondrial myopathy with reversible cytochrome c oxidase deficiencyEnrichmentMT-CO22.83
10RasopathyEnrichmentMAP2K1, RAF12.75
11Cox deficiency, benign infantile mitochondrial myopathyEnrichmentMT-CO22.69
12Hirschsprung disease 1EnrichmentECE1, EDNRB2.65
13Noonan syndrome 5EnrichmentRAF12.61
14Pseudohypoparathyroidism, type icEnrichmentGNAS2.61
15Resting heart rate, variation inEnrichmentADRB12.61
16Melorheostosis, isolatedEnrichmentMAP2K12.61
17Osseous heteroplasia, progressiveEnrichmentGNAS2.61
18Cardiomyopathy, dilated, 1nnEnrichmentRAF12.61
19Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.61
20Mandibulofacial dysostosis with alopeciaEnrichmentEDNRA2.61
21Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS2.61
22Auriculocondylar syndrome 3EnrichmentEDN12.61
23Noonan syndrome 13EnrichmentMAPK12.61
24Pituitary adenoma 3, multiple typesEnrichmentGNAS2.61
25Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesEnrichmentGNAI12.61
26Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB52.61
27Question mark ears, isolatedEnrichmentEDN12.61
28MelorheostosisEnrichmentMAP2K12.61
29Hirschsprung disease, cardiac defects, and autonomic dysfunctionEnrichmentECE12.61
30Leopard syndrome 2EnrichmentRAF12.61
31Disorders of gnas inactivationEnrichmentGNAS2.61
32Short sleep, familial natural, 2EnrichmentADRB12.61
33Congenital myopathy 14EnrichmentMYL12.61
34TrigonitisEnrichmentRAF12.61
35Rhabdomyolysis 2EnrichmentATP2A22.61
36Idiopathic hypercalciuriaEnrichmentADCY102.61
37Monostotic fibrous dysplasiaEnrichmentGNAS2.61
38Mazabraud syndromeEnrichmentGNAS2.61
39Alzheimer disease, familial, 1EnrichmentNOS32.60
40Mitochondrial complex iv deficiency, nuclear type 1EnrichmentMT-CO22.49
41Tetralogy of fallotEnrichmentMT-CO22.42
42Mitochondrial complex v deficiency, mitochondrial type 1EnrichmentMT-CO22.42
43Neuropathy, ataxia, and retinitis pigmentosaEnrichmentMT-CO22.42
44Striatonigral degeneration, infantile, mitochondrialEnrichmentMT-CO22.42
45Camptodactyly of fingersEnrichmentMT-CO22.42
46Acrokeratosis verruciformisEnrichmentATP2A22.31
47Pseudohypoparathyroidism, type iaEnrichmentGNAS2.31
48Hypercalciuria, absorptive, 2EnrichmentADCY102.31
49Aganglionosis, total intestinalEnrichmentEDNRB2.31
50Abcd syndromeEnrichmentEDNRB2.31
51Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS2.31
52PseudopseudohypoparathyroidismEnrichmentGNAS2.31
53Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM12.31
54Developmental and epileptic encephalopathy 50EnrichmentCAD2.31
55Long qt syndrome 14EnrichmentCALM12.31
56PseudohypoparathyroidismEnrichmentGNAS2.31
57Lymphatic malformation 8EnrichmentCALCRL2.31
58Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB52.31
59Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS2.31
60Leber hereditary optic neuropathy, modifier ofEnrichmentMT-CO22.26
61Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesEnrichmentMT-CO22.25
62Darier-white diseaseEnrichmentATP2A22.14
63Mccune-albright syndromeEnrichmentGNAS2.14
64Hirschsprung disease 2EnrichmentEDNRB2.14
65Langerhans cell histiocytosisEnrichmentMAP2K12.14
66Aortic aneurysm, familial thoracic 7EnrichmentMYLK2.14
67Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS2.14
68HypertelorismEnrichmentMT-CO22.12
69Primary ovarian insufficiencyEnrichmentNOS32.06
70Cardiofaciocutaneous syndrome 1EnrichmentMAP2K12.01
71Megacystis-microcolon-intestinal hypoperistalsis syndrome 1EnrichmentMYLK2.01
72Pseudohypoparathyroidism, type ibEnrichmentGNAS2.01
73Auriculocondylar syndrome 1EnrichmentEDN12.01
74Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK12.01
75Cardiofaciocutaneous syndromeEnrichmentMAP2K12.01
76Noonan syndrome with multiple lentiginesEnrichmentRAF12.01
77Leigh syndrome, nuclearEnrichmentMT-CO21.99
78Leigh diseaseEnrichmentMT-CO21.95
79Visceral myopathy 1EnrichmentMYLK1.92
80Mitochondrial diseaseEnrichmentMT-CO21.89
81Leber plus diseaseEnrichmentMT-CO21.86
82Waardenburg syndrome, type 4aEnrichmentEDNRB1.84
83Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM11.84
84Waardenburg syndromeEnrichmentEDNRB1.84
85Waardenburg syndrome, type 2eEnrichmentEDNRB1.77
86Capillary malformation-arteriovenous malformation 1EnrichmentMAP2K11.77
87Noonan syndrome 3EnrichmentRAF11.77
88BrachydactylyEnrichmentGNAS1.77
89Pilomyxoid astrocytomaEnrichmentRAF11.77
90Melanocytic nevus syndrome, congenitalEnrichmentRAF11.71
91Spastic paraplegia 4, autosomal dominantEnrichmentGNAS1.71
92Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM11.71
93Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM11.71
94Arteriovenous malformationEnrichmentMAP2K11.66
95Primary hyperaldosteronismEnrichmentGNAS1.66
96Familial thoracic aortic aneurysm and dissectionEnrichmentMYLK1.66
97Myopathy, x-linked, with excessive autophagyEnrichmentMAP2K11.62
98Lung non-small cell carcinomaEnrichmentMAP2K11.58
99Specific learning disabilityEnrichmentMAPK11.58
100Retinitis pigmentosaEnrichmentMT-CO21.51
101Aortic aneurysm, familial thoracic 1EnrichmentMYLK1.47
102Heart, malformation ofEnrichmentMAPK11.37
103Attention deficit-hyperactivity disorderEnrichmentGNB51.28
104Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF11.25
105Developmental and epileptic encephalopathy 1EnrichmentCAD1.23
106Long qt syndrome 1EnrichmentCALM11.15
107Long qt syndromeEnrichmentCALM11.14
108Non-immune hydrops fetalisEnrichmentCALCRL1.14
109Cystic fibrosisEnrichmentEDNRA1.12
110Familial hypertrophic cardiomyopathyEnrichmentRAF11.11
111Left ventricular noncompactionEnrichmentRAF11.09
112Familial thoracic aortic aneurysm and aortic dissectionEnrichmentMYLK0.99
113Body mass index quantitative trait locus 11EnrichmentGNAS0.94
114Familial isolated dilated cardiomyopathyEnrichmentRAF10.92
115Deafness, autosomal recessiveEnrichmentEDNRB0.85
116Autosomal recessive nonsyndromic deafnessEnrichmentEDNRB0.84
117Rare genetic deafnessEnrichmentEDNRB0.76
118Dilated cardiomyopathyEnrichmentRAF10.75
119Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentEDNRB0.71
120Congenital nervous system abnormalityEnrichmentGNB50.64
121Nervous system diseaseEnrichmentGNB50.64
122Autism spectrum disorderEnrichmentMAP2K10.63
123MicrocephalyEnrichmentMAPK10.59

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