Endothelins

No Pathway Network information available for Endothelins

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

Disorders associated with Endothelins SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Noonan syndrome and noonan-related syndromeEnrichmentHRAS, MAP2K1, RAF15.27
2Noonan syndrome 1EnrichmentHRAS, MAP2K1, RAF14.69
3RasopathyEnrichmentHRAS, MAP2K1, RAF14.52
4Waardenburg syndrome, type 4aEnrichmentEDN3, EDNRB4.09
5MyelofibrosisEnrichmentJAK2, SRC3.95
6Noonan syndrome 3EnrichmentHRAS, RAF13.95
7Melanocytic nevus syndrome, congenitalEnrichmentHRAS, RAF13.82
8Arteriovenous malformationEnrichmentHRAS, MAP2K13.72
9Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K13.62
10Lung non-small cell carcinomaEnrichmentHRAS, MAP2K13.53
11OsteoporosisEnrichmentCOL1A2, SRC3.32
12Ehlers-danlos syndromeEnrichmentCOL1A2, COL3A13.05
13Hirschsprung disease 1EnrichmentEDN3, EDNRB2.68
14Proteus syndromeEnrichmentAKT12.63
15Ehlers-danlos syndrome, cardiac valvular typeEnrichmentCOL1A22.63
16Noonan syndrome 5EnrichmentRAF12.63
17Melorheostosis, isolatedEnrichmentMAP2K12.63
18Cardiomyopathy, dilated, 1nnEnrichmentRAF12.63
19Focal segmental glomerulosclerosis 2EnrichmentTRPC62.63
20Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.63
21Mandibulofacial dysostosis with alopeciaEnrichmentEDNRA2.63
22Lichtenstein-knorr syndromeEnrichmentSLC9A12.63
23Hirschsprung disease 4EnrichmentEDN32.63
24Waardenburg syndrome, type 4bEnrichmentEDN32.63
25Acrogeria, gottron typeEnrichmentCOL3A12.63
26Auriculocondylar syndrome 3EnrichmentEDN12.63
27Combined osteogenesis imperfecta and ehlers-danlos syndrome 2EnrichmentCOL1A22.63
28Question mark ears, isolatedEnrichmentEDN12.63
29MelorheostosisEnrichmentMAP2K12.63
30Leopard syndrome 2EnrichmentRAF12.63
31Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorderEnrichmentPLA2G4A2.63
32Cowden syndrome 6EnrichmentAKT12.63
33Thrombocytopenia 6EnrichmentSRC2.63
34Gastrointestinal ulceration, recurrent, with dysfunctional plateletsEnrichmentPLA2G4A2.63
35Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA2.63
36Takenouchi-kosaki syndromeEnrichmentCDC422.63
37Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA2.63
38TrigonitisEnrichmentRAF12.63
39Nocarh syndromeEnrichmentCDC422.63
40Abdominal aortic aneurysmEnrichmentCOL3A12.63
41Cryptogenic multifocal ulcerous stenosing enteritisEnrichmentPLA2G4A2.63
42Phakomatosis pigmentokeratoticaEnrichmentHRAS2.63
43Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC12.63
44Cystic fibrosisEnrichmentEDNRA, SLC9A32.59
45Ehlers-danlos syndrome, vascular typeEnrichmentCOL3A12.33
46Ehlers-danlos syndrome, hypermobility typeEnrichmentCOL3A12.33
47Aganglionosis, total intestinalEnrichmentEDNRB2.33
48Costello syndromeEnrichmentHRAS2.33
49Bruck syndrome 1EnrichmentCOL1A22.33
50Abcd syndromeEnrichmentEDNRB2.33
51Thrombocythemia 3EnrichmentJAK22.33
52Diarrhea 8, secretory sodium, congenitalEnrichmentSLC9A32.33
53Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC12.33
54Ehlers-danlos syndrome, arthrochalasia type, 2EnrichmentCOL1A22.33
55Polymicrogyria with or without vascular-type ehlers-danlos syndromeEnrichmentCOL3A12.33
56Aortic dissectionEnrichmentCOL3A12.33
57Recessive dystrophic epidermolysis bullosaEnrichmentMMP12.33
58Immune system diseaseEnrichmentCDC422.33
59PolycythemiaEnrichmentJAK22.33
60Ehlers-danlos/osteogenesis imperfecta syndromeEnrichmentCOL1A22.33
61Hypereosinophilic syndromeEnrichmentJAK22.33
62Dentinogenesis imperfectaEnrichmentCOL1A22.33
63Wooly hair nevusEnrichmentHRAS2.33
64Polycythemia veraEnrichmentJAK22.15
65Diarrhea 3, secretory sodium, congenital, with or without other congenital anomaliesEnrichmentSLC9A32.15
66Hirschsprung disease 2EnrichmentEDNRB2.15
67Langerhans cell histiocytosisEnrichmentMAP2K12.15
68Large congenital melanocytic nevusEnrichmentHRAS2.15
69Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK22.15
70SpermatocytomaEnrichmentHRAS2.15
71High bone mass osteogenesis imperfectaEnrichmentCOL1A22.15
72Ehlers-danlos syndrome, arthrochalasia type, 1EnrichmentCOL1A22.03
73Erythrocytosis, familial, 1EnrichmentJAK22.03
74Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS2.03
75Cardiofaciocutaneous syndrome 1EnrichmentMAP2K12.03
76Budd-chiari syndromeEnrichmentJAK22.03
77Auriculocondylar syndrome 1EnrichmentEDN12.03
78Congenital generalized lipodystrophyEnrichmentFOS2.03
79Cardiofaciocutaneous syndromeEnrichmentMAP2K12.03
80Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCDC422.03
81Noonan syndrome with multiple lentiginesEnrichmentRAF12.03
82Epidermolytic nevusEnrichmentHRAS2.03
83Osteogenesis imperfecta with normal sclerae, dominant formEnrichmentCOL1A22.03
84Myeloproliferative neoplasmEnrichmentJAK21.93
85Histiocytoid hemangiomaEnrichmentFOS1.93
86Familial cerebral saccular aneurysmEnrichmentCOL3A11.93
87Breast cancerEnrichmentAKT1, JUN1.87
88Ehlers-danlos syndrome, classic type, 1EnrichmentCOL1A21.85
89Melanoma, uvealEnrichmentCYSLTR21.85
90Osteogenesis imperfecta, type iEnrichmentCOL1A21.85
91Hemihyperplasia, isolatedEnrichmentRHOA1.85
92Breast adenocarcinomaEnrichmentAKT11.85
93Classic ehlers-danlos syndromeEnrichmentCOL1A21.85
94Waardenburg syndromeEnrichmentEDNRB1.85
95Nevus, epidermalEnrichmentHRAS1.79
96Osteogenesis imperfecta, type iiEnrichmentCOL1A21.79
97Thyroid cancer, nonmedullary, 2EnrichmentHRAS1.79
98Waardenburg syndrome, type 2eEnrichmentEDNRB1.79
99Capillary malformation-arteriovenous malformation 1EnrichmentMAP2K11.79
100Essential thrombocythemiaEnrichmentJAK21.79
101Pilomyxoid astrocytomaEnrichmentRAF11.79
102Follicular thyroid carcinomaEnrichmentHRAS1.79
103Colorectal cancerEnrichmentAKT1, SRC1.75
104Spastic paraplegia 4, autosomal dominantEnrichmentCOL3A11.73
105Leukemia, acute lymphoblastic 3EnrichmentJAK21.68
106Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC11.68
107Congenital central hypoventilation syndromeEnrichmentEDN31.68
108Cowden syndromeEnrichmentAKT11.68
109Familial thoracic aortic aneurysm and dissectionEnrichmentCOL3A11.68
110Primary bone dysplasiaEnrichmentCOL1A21.63
111OsteochondrodysplasiaEnrichmentCOL1A21.59
112MeningiomaEnrichmentAKT11.55
113Lip and oral cavity carcinomaEnrichmentHRAS1.55
114Osteogenesis imperfecta, type ivEnrichmentCOL1A21.52
115Aortic aneurysm, familial thoracic 1EnrichmentCOL3A11.49
116Osteogenesis imperfecta, type iiiEnrichmentCOL1A21.46
117RhabdomyosarcomaEnrichmentHRAS1.43
118Focal segmental glomerulosclerosisEnrichmentTRPC61.34
119Brittle bone disorderEnrichmentCOL1A21.28
120Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF11.26
121Hydrops fetalis, nonimmuneEnrichmentHRAS1.22
122Bladder cancerEnrichmentHRAS1.18
123Differentiated thyroid carcinomaEnrichmentHRAS1.18
124Non-immune hydrops fetalisEnrichmentHRAS1.15
125Familial hypertrophic cardiomyopathyEnrichmentRAF11.12
126Genetic steroid-resistant nephrotic syndromeEnrichmentTRPC61.11
127Left ventricular noncompactionEnrichmentRAF11.10
128Leukemia, acute myeloidEnrichmentJAK21.04
129Nephrotic syndromeEnrichmentTRPC61.01
130Familial thoracic aortic aneurysm and aortic dissectionEnrichmentCOL3A11.01
131Hereditary breast carcinomaEnrichmentAKT11.01
132Sensorineural hearing lossEnrichmentEDN30.97
133ThrombocytopeniaEnrichmentSRC0.97
134Familial isolated dilated cardiomyopathyEnrichmentRAF10.93
135Hereditary breast ovarian cancer syndromeEnrichmentBCAR10.91
136Primary ovarian insufficiencyEnrichmentJAK20.88
137Deafness, autosomal recessiveEnrichmentEDNRB0.86
138Autosomal recessive nonsyndromic deafnessEnrichmentEDNRB0.85
139Rare genetic deafnessEnrichmentEDNRB0.77
140Dilated cardiomyopathyEnrichmentRAF10.76
141Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentEDNRB0.72
142Ovarian cancerEnrichmentAKT10.67
143Autism spectrum disorderEnrichmentMAP2K10.64

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