Development_Leptin signaling via PI3K-dependent pathway

No Pathway Network information available for Development_Leptin signaling via PI3K-dependent pathway

Pathways in the Development_Leptin signaling via PI3K-dependent pathway SuperPath

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

Disorders associated with Development_Leptin signaling via PI3K-dependent pathway SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Type 2 diabetes mellitusEnrichmentABCC8, AKT2, IRS1, IRS2, KCNJ11, PTPN1, SLC2A49.67
2Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3CA, PIK3R26.67
3Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R14.37
4Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R14.37
5Immunodeficiency 14EnrichmentPIK3CD, PIK3R14.37
6Dend syndromeEnrichmentABCC8, KCNJ114.37
7Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R24.07
8Leptin deficiency or dysfunctionEnrichmentLEP, LEPR4.07
9Neonatal diabetes mellitusEnrichmentABCC8, KCNJ114.07
10Transient neonatal diabetes mellitusEnrichmentABCC8, KCNJ113.84
11HypoglycemiaEnrichmentABCC8, KCNJ113.84
12HemimegalencephalyEnrichmentAKT3, PIK3CA3.84
13Hyperinsulinemic hypoglycemia, familial, 1EnrichmentABCC8, KCNJ113.67
14Breast adenocarcinomaEnrichmentAKT1, PIK3CA3.67
15Nonsyndromic genetic hyperinsulinismEnrichmentABCC8, KCNJ113.67
16Permanent neonatal diabetes mellitusEnrichmentABCC8, KCNJ113.40
17Ellis-van creveld syndromeEnrichmentPRKACA, PRKACB3.29
18Cowden syndromeEnrichmentAKT1, PIK3CA3.29
19Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3CD, PIK3R13.20
20MeningiomaEnrichmentAKT1, PIK3CA3.03
21Lip and oral cavity carcinomaEnrichmentPIK3CA, STK113.03
22Maturity-onset diabetes of the youngEnrichmentABCC8, KCNJ112.58
23MacrodactylyEnrichmentPIK3CA2.42
24Proteus syndromeEnrichmentAKT12.42
25Acrodysostosis 1 with or without hormone resistanceEnrichmentPRKAR1A2.42
26Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT22.42
27Hyperinsulinemic hypoglycemia, familial, 2EnrichmentKCNJ112.42
28Carney complex, type 1EnrichmentPRKAR1A2.42
29Megalencephaly, autosomal dominantEnrichmentPIK3CA2.42
30Cowden syndrome 5EnrichmentPIK3CA2.42
31Fetal encasement syndromeEnrichmentCHUK2.42
32Cerebral cavernous malformations 4EnrichmentPIK3CA2.42
33Immunodeficiency 15bEnrichmentIKBKB2.42
34Immunodeficiency 15aEnrichmentIKBKB2.42
35Maturity-onset diabetes of the young, type 12EnrichmentABCC82.42
36Short syndromeEnrichmentPIK3R12.42
37Acetyl-coa carboxylase-alpha deficiencyEnrichmentACACA2.42
38Cardioacrofacial dysplasia 2EnrichmentPRKACB2.42
39Cardiomyopathy, familial hypertrophic, 6EnrichmentPRKAG22.42
40Myxoma, intracardiacEnrichmentPRKAR1A2.42
41Glycogen storage disease of heart, lethal congenitalEnrichmentPRKAG22.42
42Diabetes mellitus, transient neonatal, 3EnrichmentKCNJ112.42
43Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT32.42
44Hemifacial myohyperplasiaEnrichmentPIK3CA2.42
45Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.42
46Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.42
47Cowden syndrome 6EnrichmentAKT12.42
48Diabetes mellitus, permanent neonatal, 2EnrichmentKCNJ112.42
49Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA2.42
50Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD2.42
51Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.42
52Maturity-onset diabetes of the young, type 13EnrichmentKCNJ112.42
53Leptin receptor deficiencyEnrichmentLEPR2.42
54Autosomal dominant hyperinsulinism due to sur1 deficiencyEnrichmentABCC82.42
55Skeletal muscle glycogen content and metabolism quantitative trait locusEnrichmentPRKAG32.42
56Cardioacrofacial dysplasia 1EnrichmentPRKACA2.42
57Bartsocas-papas syndrome 2EnrichmentCHUK2.42
58Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.42
59HypospadiasEnrichmentPIK3CA2.42
60Capillary hemangiomaEnrichmentAKT32.42
61Diazoxide-resistant focal hyperinsulinism due to sur1 deficiencyEnrichmentABCC82.42
62Prkar1b-related neurodegenerative dementia with intermediate filamentsEnrichmentPRKAR1B2.42
63Rare venous malformationEnrichmentPIK3CA2.42
64Diaphragmatic eventrationEnrichmentPIK3CA2.42
65Congestive heart failureEnrichmentABCC82.42
66Acute myeloid leukemia with mutated cebpaEnrichmentCEBPA2.42
67Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.42
68Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK2.42
69Rare combined vascular malformationEnrichmentPIK3CA2.42
70Cavernous lymphangiomaEnrichmentPIK3CA2.42
71Intermediate dend syndromeEnrichmentKCNJ112.42
72Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.42
73Diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiencyEnrichmentKCNJ112.42
74Intestinal polyposis syndromeEnrichmentSTK112.42
75Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.42
76Eccrine angiomatous hamartomaEnrichmentPIK3CA2.42
77Autosomal recessive hyperinsulinism due to sur1 deficiencyEnrichmentABCC82.42
78Macrodactyly of toeEnrichmentPIK3CA2.42
79Akt2-related familial partial lipodystrophyEnrichmentAKT22.42
80Autosomal dominant hyperinsulinism due to kir6.2 deficiencyEnrichmentKCNJ112.42
81Autosomal recessive hyperinsulinism due to kir6.2 deficiencyEnrichmentKCNJ112.42
82Colorectal cancerEnrichmentAKT1, PIK3CA, PIK3R12.35
83Peutz-jeghers syndromeEnrichmentSTK112.12
84Amelogenesis imperfecta, type igEnrichmentPRKAR1A2.12
85Glycogen storage disease 0, liverEnrichmentGYS22.12
86Vitamin d hydroxylation-deficient rickets, type 1bEnrichmentPDE3B2.12
87Histiocytoma, angiomatoid fibrousEnrichmentCREB12.12
88Pigmented nodular adrenocortical disease, primary, 1EnrichmentPRKAR1A2.12
89Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA2.12
90Keratosis, seborrheicEnrichmentPIK3CA2.12
91Diabetes mellitus, permanent neonatal, 1EnrichmentKCNJ112.12
92Roifman-chitayat syndromeEnrichmentPIK3CD2.12
93Bleeding disorder, platelet-type, 19EnrichmentPRKACG2.12
94Hypoglycemia, leucine-inducedEnrichmentABCC82.12
95Carnitine palmitoyltransferase i deficiencyEnrichmentCPT1A2.12
96Noonan syndrome 8EnrichmentPIK3CA2.12
97Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB12.12
98Thrombocythemia 3EnrichmentJAK22.12
99Diabetes mellitus, transient neonatal, 2EnrichmentABCC82.12
100Marbach-schaaf neurodevelopmental syndromeEnrichmentPRKAR1B2.12
101Charcot-marie-tooth disease, axonal, type 2ddEnrichmentATP1A12.12
102Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA2.12
103Usher syndrome, type ivEnrichmentPRKAR1A2.12
104Rela fusion-positive ependymomaEnrichmentRELA2.12
105Senior-loken syndrome 7EnrichmentAKT32.12
106Rosette-forming glioneuronal tumorEnrichmentPIK3CA2.12
107AcrodysostosisEnrichmentPRKAR1A2.12
108Hypomagnesemia, seizures, and impaired intellectual development 2EnrichmentATP1A12.12
109Fibrolamellar carcinomaEnrichmentPRKACA2.12
110Diabetes mellitus, permanent neonatal, 3EnrichmentABCC82.12
111Ectodermal dysplasia and immune deficiencyEnrichmentNFKBIA2.12
112Immune system diseaseEnrichmentPIK3CD2.12
113Ciliary dyskinesia, primary, 18EnrichmentPRKAR1B2.12
114Bardet-biedl syndrome 16EnrichmentAKT32.12
115PolycythemiaEnrichmentJAK22.12
116Glycogen storage disorder due to hepatic glycogen synthase deficiencyEnrichmentGYS22.12
117Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPRKAR1A2.12
118Hypereosinophilic syndromeEnrichmentJAK22.12
119HyperinsulinismEnrichmentKCNJ112.12
120Common variable immunodeficiency 12EnrichmentNFKB12.12
121Leukemia, acute myeloidEnrichmentCEBPA, JAK21.99
122Polycythemia veraEnrichmentJAK21.94
123Pompe disease, infantile-onsetEnrichmentPIK3CA1.94
124Vitamin d hydroxylation-deficient rickets, type 1aEnrichmentPDE3B1.94
125Nasopharyngeal carcinomaEnrichmentNFKBIA1.94
126Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK21.94
127Hyperinsulinemic hypoglycemiaEnrichmentABCC81.94
128Testicular germ cell cancerEnrichmentSTK111.94
129Melanoma of soft tissueEnrichmentCREB11.94
130Testicular cancerEnrichmentSTK111.94
131KeratoacanthomaEnrichmentPIK3CA1.94
132Apc-associated polyposis conditionsEnrichmentSTK111.94
133Gastric cancerEnrichmentPIK3CA, STK111.93
134Hereditary breast carcinomaEnrichmentAKT1, PIK3CA1.91
135Inherited cancer-predisposing syndromeEnrichmentCEBPA, PRKAR1A, STK111.85
136Erythrocytosis, familial, 1EnrichmentJAK21.82
137Dermatitis, atopicEnrichmentKCNJ111.82
138Budd-chiari syndromeEnrichmentJAK21.82
139Carney complex variantEnrichmentPRKAR1A1.82
140Arrhythmogenic right ventricular dysplasia, familial, 10EnrichmentPRKAR1A1.82
141Cerebrovascular diseaseEnrichmentPIK3CA1.82
142Newborn respiratory distress syndromeEnrichmentABCC81.82
143Familial cerebral cavernous malformationsEnrichmentPIK3CA1.82
144Capillary malformations, congenitalEnrichmentPIK3CA1.72
145Familial adenomatous polyposis 1EnrichmentSTK111.72
146Myeloproliferative neoplasmEnrichmentJAK21.72
147PolyhydramniosEnrichmentABCC81.72
148Inherited acute myeloid leukemiaEnrichmentCEBPA1.72
149Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentCEBPA1.72
150Generalized juvenile polyposis/juvenile polyposis coliEnrichmentSTK111.72
151Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.64
152Cowden syndrome 1EnrichmentPIK3CA1.64
153Hemihyperplasia, isolatedEnrichmentPIK3CA1.64
154Testicular germ cell tumorEnrichmentSTK111.64
155Adrenocortical carcinomaEnrichmentPRKAR1A1.64
156Lung squamous cell carcinomaEnrichmentPIK3CA1.64
157HypertrichosisEnrichmentKCNJ111.64
158Nevus, epidermalEnrichmentPIK3CA1.58
159MyelofibrosisEnrichmentJAK21.58
160Capillary malformation-arteriovenous malformation 1EnrichmentPIK3CA1.58
161Essential thrombocythemiaEnrichmentJAK21.58
162Gallbladder cancerEnrichmentPIK3CA1.58
163MegacolonEnrichmentAKT31.58
164Common variable immunodeficiencyEnrichmentNFKB11.58
165Overgrowth syndromeEnrichmentPIK3R11.58
166Gastroesophageal refluxEnrichmentABCC81.52
167Breast cancerEnrichmentAKT1, PIK3CA1.48
168Leukemia, acute lymphoblastic 3EnrichmentJAK21.47
169Arteriovenous malformationEnrichmentPIK3CA1.47
170Adult hepatocellular carcinomaEnrichmentPIK3CA1.47
171Myopathy, x-linked, with excessive autophagyEnrichmentPIK3CA1.42
172Ciliary dyskinesia, primary, 3EnrichmentNFKB11.42
173PolymicrogyriaEnrichmentAKT31.42
174MelanomaEnrichmentSTK111.42
175Atrial heart septal defectEnrichmentABCC81.38
176Glycogen storage diseaseEnrichmentGYS21.38
177Lung non-small cell carcinomaEnrichmentPIK3CA1.38
178Diabetes mellitusEnrichmentKCNJ111.38
179Interatrial communicationEnrichmentABCC81.38
180Pulmonary disease, chronic obstructiveEnrichmentPDE3B1.31
181Acute promyelocytic leukemiaEnrichmentPRKAR1A1.31
182Nk-cell enteropathyEnrichmentPIK3CB1.31
183Lynch syndromeEnrichmentPIK3CA1.25
184Ovarian cancerEnrichmentAKT1, PIK3CA1.24
185Wolff-parkinson-white syndromeEnrichmentPRKAG21.22
186GliosarcomaEnrichmentNFKBIA1.22
187Melanoma, cutaneous malignant 1EnrichmentSTK111.20
188Giant cell glioblastomaEnrichmentNFKBIA1.20
189Endometrial cancerEnrichmentPIK3CA1.11
190Hepatocellular carcinomaEnrichmentPIK3CA1.09
191Pancreatic cancerEnrichmentSTK111.04
192Bladder cancerEnrichmentPIK3CA0.98
193Prostate cancerEnrichmentPIK3CA0.98
194Lung cancerEnrichmentPIK3CA0.94
195Familial hypertrophic cardiomyopathyEnrichmentPRKAG20.92
196Severe combined immunodeficiencyEnrichmentIKBKB0.92
197Hypertrophic cardiomyopathyEnrichmentPRKAG20.82
198Body mass index quantitative trait locus 11EnrichmentLEPR0.76
199HypertelorismEnrichmentPIK3CA0.74
200Myeloma, multipleEnrichmentPIK3R20.71
201Primary ovarian insufficiencyEnrichmentJAK20.69
202Primary ciliary dyskinesiaEnrichmentPRKAR1B0.60

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