Autophagy

Pathway network for the Autophagy SuperPath

Sources:
  • WikiPathways

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

Disorders associated with Autophagy SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Neurodegeneration with brain iron accumulationEnrichmentATP13A2, C19orf12, COASY, CP, DCAF17, FA2H, PLA2G616.00
2Focal cortical dysplasia, type iiEnrichmentMTOR, RHEB, TSC1, TSC29.93
3Isolated focal cortical dysplasia type iiEnrichmentMTOR, RHEB, TSC1, TSC29.93
4LymphangioleiomyomatosisEnrichmentTSC1, TSC25.56
5DystoniaEnrichmentC19orf12, MECP2, PANK2, WDR455.33
6Tuberous sclerosis 1EnrichmentTSC1, TSC25.08
7HamartomaEnrichmentTSC1, TSC25.08
8Tuberous sclerosisEnrichmentTSC1, TSC24.78
9Adult hepatocellular carcinomaEnrichmentTSC1, TSC24.01
10HemimegalencephalyEnrichmentMTOR, RHEB3.99
11Spastic ataxiaEnrichmentC19orf12, FA2H, PLA2G63.18
12Spinocerebellar ataxia, autosomal recessive 25EnrichmentATG52.88
13Inflammatory bowel disease 10EnrichmentATG16L12.88
14Donohue syndromeEnrichmentINSR2.77
15Hyperinsulinemic hypoglycemia, familial, 5EnrichmentINSR2.77
16Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalitiesEnrichmentINSR2.77
17Diabetes mellitus, insulin-resistant, with acanthosis nigricansEnrichmentINSR2.77
18Fatty liver disease 1EnrichmentATG72.69
19Cebalid syndromeEnrichmentMTOR2.69
20Spinocerebellar ataxia, autosomal recessive 31EnrichmentATG72.69
21Smith-kingsmore syndromeEnrichmentMTOR2.69
22Intellectual developmental disorder with short stature and variable skeletal anomaliesEnrichmentWIPI22.66
23Cardiomyopathy, familial hypertrophic, 6EnrichmentPRKAG22.66
24Glycogen storage disease of heart, lethal congenitalEnrichmentPRKAG22.66
25Skeletal muscle glycogen content and metabolism quantitative trait locusEnrichmentPRKAG32.66
26Neuropathy, hereditary sensory and autonomic, type iaEnrichmentSPTLC12.49
27Osteopetrosis and infantile neuroaxonal dystrophyEnrichmentPLA2G62.49
28Facial hypertrichosisEnrichmentMECP22.49
29AceruloplasminemiaEnrichmentCP2.49
30Neurodegeneration with brain iron accumulation 3EnrichmentFTL2.49
31Spastic paraplegia 78, autosomal recessiveEnrichmentATP13A22.49
32Intellectual developmental disorder, x-linked, syndromic, lubs typeEnrichmentMECP22.49
33Neurodegeneration with brain iron accumulation 2aEnrichmentPLA2G62.49
34Autism x-linked 3EnrichmentMECP22.49
35Amyotrophic lateral sclerosis 27, juvenileEnrichmentSPTLC12.49
36Acetyl-coa carboxylase-alpha deficiencyEnrichmentACACA2.49
37Neurodegeneration with brain iron accumulation 6EnrichmentCOASY2.49
38Parkinson disease 14, autosomal recessiveEnrichmentPLA2G62.49
39Kufor-rakeb syndromeEnrichmentATP13A22.49
40Neurodegeneration with brain iron accumulation 2bEnrichmentPLA2G62.49
41Neurodegeneration with brain iron accumulation 4EnrichmentC19orf122.49
42Spastic paraplegia 43, autosomal recessiveEnrichmentC19orf122.49
43L-ferritin deficiencyEnrichmentFTL2.49
44Syndromic x-linked intellectual disability lubs typeEnrichmentMECP22.49
45Leukoencephalopathy with dystonia and motor neuropathyEnrichmentSCP22.49
46Pontocerebellar hypoplasia, type 12EnrichmentCOASY2.49
47Muscular lipidosisEnrichmentCOASY2.49
48Genetic hyperferritinemia without iron overloadEnrichmentFTL2.49
49Mitochondrial membrane protein-associated neurodegenerationEnrichmentC19orf122.49
50Intestinal polyposis syndromeEnrichmentSTK112.49
51Parkinsonism due to atp13a2 deficiencyEnrichmentATP13A22.49
52Hyperinsulinemic hypoglycemia, familial, 4EnrichmentINSR2.47
53Maturity-onset diabetes of the young, type 10EnrichmentINS2.47
54HyperproinsulinemiaEnrichmentINS2.47
55Intravascular large b-cell lymphomaEnrichmentBCL22.47
56Diabetes mellitus, permanent neonatal, 4EnrichmentINS2.47
57Congenital nervous system abnormalityEnrichmentMECP2, PLA2G6, TSC22.31
58Nervous system diseaseEnrichmentMECP2, PLA2G6, TSC22.31
59Type 1 diabetes mellitus 2EnrichmentINS2.29
60Polycystic kidney disease, infantile severe, with tuberous sclerosisEnrichmentTSC22.29
61Tuberous sclerosis 2EnrichmentTSC22.29
62High-grade b-cell lymphoma double-hit/triple-hitEnrichmentBCL22.29
63Xanthinuria, type iiEnrichmentTSC22.29
64Breast adenocarcinomaEnrichmentRB1CC12.21
65Peutz-jeghers syndromeEnrichmentSTK112.19
66Woodhouse-sakati syndromeEnrichmentDCAF172.19
67Encephalopathy, neonatal severe, due to mecp2 mutationsEnrichmentMECP22.19
68Spastic paraplegia 35, autosomal recessive, with or without neurodegenerationEnrichmentFA2H2.19
69Hermansky-pudlak syndrome 3EnrichmentCP2.19
70Hyperferritinemia with or without cataractEnrichmentFTL2.19
71Intellectual developmental disorder, x-linked, syndromic 13EnrichmentMECP22.19
72X-linked intellectual disability-psychosis-macroorchidism syndromeEnrichmentMECP22.19
73Hereditary spastic paraplegia 35EnrichmentFA2H2.19
74Jaberi-elahi syndromeEnrichmentGTPBP22.19
75Progressive bulbar palsyEnrichmentMECP22.19
76Infantile osteopetrosis with neuroaxonal dysplasiaEnrichmentPLA2G62.19
77BruxismEnrichmentMECP22.19
78Neonatal diabetes mellitusEnrichmentINS2.17
79Renal cell carcinoma, papillary, 1EnrichmentMTOR2.14
80Overgrowth syndromeEnrichmentMTOR2.14
81Hereditary spastic paraplegiaEnrichmentC19orf12, FA2H2.09
82Follicular lymphomaEnrichmentBCL22.07
83Inherited cancer-predisposing syndromeEnrichmentSTK11, TSC1, TSC22.05
84West syndromeEnrichmentTSC2, WDR452.05
85LaryngomalaciaEnrichmentMECP22.01
86Neurodegeneration with brain iron accumulation 5EnrichmentWDR452.01
87Optic atrophy 2EnrichmentWDR452.01
88Cerebral-cerebellar-coloboma syndrome, x-linkedEnrichmentWDR452.01
89Testicular germ cell cancerEnrichmentSTK112.01
90Testicular cancerEnrichmentSTK112.01
91Apc-associated polyposis conditionsEnrichmentSTK112.01
92Craniofacial microsomia 1EnrichmentCHAF1A1.99
93Type 1 diabetes mellitusEnrichmentINS1.99
94KeratoconusEnrichmentTSC11.99
9546,xy disorder of sex developmentEnrichmentINSR1.99
96Polycystic kidney disease 1 with or without polycystic liver diseaseEnrichmentTSC21.93
97Polycystic kidney disease 1EnrichmentTSC21.93
98Neurodegeneration with brain iron accumulation 1EnrichmentPANK21.89
99Albinism, oculocutaneous, type viiEnrichmentWDR451.89
100Basal ganglia calcificationEnrichmentWDR451.89
101Sick sinus syndromeEnrichmentMECP21.89
102Permanent neonatal diabetes mellitusEnrichmentINS1.87
103Renal cell carcinoma, nonpapillaryEnrichmentMTOR1.81
104Rare genetic intellectual disabilityEnrichmentMTOR1.81
105Familial adenomatous polyposis 1EnrichmentSTK111.79
106Rubinstein-taybi syndrome 2EnrichmentPANK21.79
107Generalized juvenile polyposis/juvenile polyposis coliEnrichmentSTK111.79
108Diabetes mellitusEnrichmentINS1.73
109Angelman syndromeEnrichmentMECP21.71
110Testicular germ cell tumorEnrichmentSTK111.71
111Rett syndromeEnrichmentMECP21.65
112Hereditary sensory and autonomic neuropathy type 1EnrichmentSPTLC11.65
113Focal epilepsyEnrichmentMECP21.65
114AutismEnrichmentMECP2, WDR451.64
115Autosomal dominant polycystic kidney diseaseEnrichmentTSC21.60
116Kidney diseaseEnrichmentTSC11.60
117Rett syndrome, congenital variantEnrichmentMECP21.59
118Neurofibromatosis, type iEnrichmentC19orf121.54
119Juvenile amyotrophic lateral sclerosisEnrichmentSPTLC11.54
120MelanomaEnrichmentSTK111.50
121Maturity-onset diabetes of the youngEnrichmentINS1.48
122Wolff-parkinson-white syndromeEnrichmentPRKAG21.46
123Lip and oral cavity carcinomaEnrichmentSTK111.42
124Stereotypic movement disorderEnrichmentMECP21.38
125Hereditary breast carcinomaEnrichmentRB1CC11.35
126Hermansky-pudlak syndromeEnrichmentCP1.32
127Bladder cancerEnrichmentTSC11.32
128Autism spectrum disorderEnrichmentMECP2, TSC21.31
129Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentPLA2G61.30
130Hermansky-pudlak syndrome 1EnrichmentCP1.30
131Melanoma, cutaneous malignant 1EnrichmentSTK111.27
132Beckwith-wiedemann syndromeEnrichmentSPTLC11.25
133MicrocephalyEnrichmentMECP2, PLA2G61.22
134Type 2 diabetes mellitusEnrichmentINSR1.16
135Attention deficit-hyperactivity disorderEnrichmentMECP21.16
136Familial hypertrophic cardiomyopathyEnrichmentPRKAG21.15
137Breast cancerEnrichmentRB1CC11.13
138Pancreatic cancerEnrichmentSTK111.11
139Hypertrophic cardiomyopathyEnrichmentPRKAG21.04
140Primary ovarian insufficiencyEnrichmentATG9B1.02
141Non-syndromic x-linked intellectual disabilityEnrichmentMECP20.96
142Systemic lupus erythematosusEnrichmentMECP20.92
143EpilepsyEnrichmentMECP20.91
144Charcot-marie-tooth diseaseEnrichmentSPTLC10.90
145Gastric cancerEnrichmentSTK110.88
146Ovarian cancerEnrichmentTSC20.80
147Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentSPTLC10.76
148Cone-rod dystrophy 2EnrichmentPANK20.70
149Retinitis pigmentosaEnrichmentPANK20.30
150Hereditary retinal dystrophyEnrichmentPANK20.21
151Fundus dystrophyEnrichmentPANK20.21

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