Clathrin-mediated endocytosis

No Pathway Network information available for Clathrin-mediated endocytosis

Pathways in the Clathrin-mediated endocytosis SuperPath

#NameSourceGenes
1Clathrin-mediated endocytosisReactome
2Cargo recognition for clathrin-mediated endocytosisReactome

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

Disorders associated with Clathrin-mediated endocytosis SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Homozygous familial hypercholesterolemiaEnrichmentAPOB, LDLR, LDLRAP14.60
2Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG13.94
3Hypercholesterolemia, familial, 2EnrichmentAPOB, LDLR3.74
4Hypercholesterolemia, familial, 4EnrichmentLDLR, LDLRAP13.74
5Familial hypercholesterolemiaEnrichmentAPOB, LDLR, LDLRAP13.71
6Atypical juvenile parkinsonismEnrichmentDNAJC6, SYNJ13.47
7Hyperlipidemia, familial combined, 3EnrichmentAPOB, LDLR3.22
8Cowden syndrome 1EnrichmentEGFR, LDLR3.05
9Myopathy, centronuclear, 1EnrichmentBIN1, DNM22.78
10Coronary heart disease 5EnrichmentAPOB, LDLR2.68
11Severe combined immunodeficiencyEnrichmentCD3D, CD3G, IL7R2.67
12Undetermined early-onset epileptic encephalopathyEnrichmentCLTC, DNM1, NECAP1, SYNJ12.51
13Presynaptic congenital myasthenic syndromesEnrichmentSLC18A3, SYT22.50
14Hypercholesterolemia, familial, 1EnrichmentAPOB, LDLR2.35
15Early-onset parkinson's diseaseEnrichmentDNAJC6, SYNJ12.15
16Diabetes insipidus, neurohypophysealEnrichmentAVP2.11
17Hypocalciuric hypercalcemia, familial, type iiiEnrichmentAP2S12.11
18Nephrogenic syndrome of inappropriate antidiuresisEnrichmentAVPR22.11
19Diabetes insipidus, nephrogenic, 1, x-linkedEnrichmentAVPR22.11
20Immunodeficiency 61EnrichmentSH3KBP12.11
21Hypomagnesemia 4, renalEnrichmentEGF2.11
22Dystonia 1, torsion, autosomal dominantEnrichmentTOR1A2.11
23Donnai-barrow syndromeEnrichmentLRP22.11
24AtransferrinemiaEnrichmentTF2.11
25Baker-gordon syndromeEnrichmentSYT12.11
26Okt4 epitope deficiencyEnrichmentCD42.11
27Neurodegeneration with brain iron accumulation 7EnrichmentREPS12.11
28Amyotrophic lateral sclerosis 15 with or without frontotemporal dementiaEnrichmentUBQLN22.11
29Central diabetes insipidusEnrichmentAVP2.11
30X-linked nephrogenic diabetes insipidusEnrichmentAVPR22.11
31Immunodeficiency 76EnrichmentFCHO12.11
32Myasthenic syndrome, congenital, 7a, presynaptic, and distal motor neuropathy, autosomal dominantEnrichmentSYT22.11
33Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movementsEnrichmentVAMP22.11
34Immunodeficiency 46EnrichmentTFRC2.11
35Immunodeficiency 79EnrichmentCD42.11
36Arthrogryposis multiplex congenita 5EnrichmentTOR1A2.11
37Myasthenic syndrome, congenital, 7b, presynaptic, autosomal recessiveEnrichmentSYT22.11
38Immunodeficiency 19, severe combinedEnrichmentCD3D2.11
39Prolactin-producing pituitary gland adenomaEnrichmentLRP22.11
40Congenital myasthenic syndrome 7EnrichmentSYT22.11
41Congenital insensitivity to pain with severe intellectual disabilityEnrichmentCLTCL12.11
42Aquagenic palmoplantar keratodermaEnrichmentCFTR2.11
43Dyt1 early-onset isolated dystoniaEnrichmentTOR1A2.11
44Immunodeficiency 19EnrichmentCD3D2.11
45T-b+ severe combined immunodeficiency due to il-7ralpha deficiencyEnrichmentIL7R2.11
46Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF2.11
47Hereditary arginine vasopressin deficiencyEnrichmentAVP2.11
48Baraitser-winter syndrome 1EnrichmentACTB1.97
49Parkinson disease 19a, juvenile-onsetEnrichmentDNAJC61.97
50Charcot-marie-tooth disease, dominant intermediate bEnrichmentDNM21.97
51Developmental and epileptic encephalopathy 53EnrichmentSYNJ11.97
52Congenital myopathy 27EnrichmentPACSIN31.97
53Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB1.97
54Oculoskeletodental syndromeEnrichmentPIK3C2A1.97
55Lowe oculocerebrorenal syndromeEnrichmentOCRL1.97
56Becker nevus syndromeEnrichmentACTB1.97
57Dystonia-deafness syndrome 1EnrichmentACTB1.97
58Lethal congenital contracture syndrome 5EnrichmentDNM21.97
59Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB1.97
60Baraitser-winter syndromeEnrichmentACTB1.97
61Autosomal dominant charcot-marie-tooth disease type 2mEnrichmentDNM21.97
62Congenital smooth muscle hamartomaEnrichmentACTB1.97
63Developmental malformations-deafness-dystonia syndromeEnrichmentACTB1.97
64Oculocerebrodental syndromeEnrichmentPIK3C2A1.97
65Precocious puberty, male-limitedEnrichmentSTON1-GTF2A1L1.81
66Leydig cell hypoplasia, type iEnrichmentSTON1-GTF2A1L1.81
67Spermatogenic failure, y-linked, 2EnrichmentCFTR1.81
68Ovarian germ cell cancerEnrichmentCBL1.81
69Developmental and epileptic encephalopathy 21EnrichmentNECAP11.81
70Hypobetalipoproteinemia, familial, 1EnrichmentAPOB1.81
71Hyperlipoproteinemia, type iiiEnrichmentLDLR1.81
72Immunodeficiency 104, severe combinedEnrichmentIL7R1.81
73Multiple sclerosis 3EnrichmentIL7R1.81
74Intellectual developmental disorder, autosomal dominant 60, with seizuresEnrichmentAP2M11.81
75HypobetalipoproteinemiaEnrichmentAPOB1.81
76Immunodeficiency 17EnrichmentCD3G1.81
77Myasthenic syndrome, congenital, 21, presynapticEnrichmentSLC18A31.81
78Leydig cell hypoplasia type iiEnrichmentSTON1-GTF2A1L1.81
79Malignant germ cell tumor of ovaryEnrichmentCBL1.81
80Non-syndromic syndactylyEnrichmentLRP21.81
81Submucosal cleft palateEnrichmentUBB1.81
82Cleft hard palateEnrichmentUBB1.81
83Lethal congenital contracture syndrome 3EnrichmentPIP5K1C1.67
84Dent disease 2EnrichmentOCRL1.67
85Deafness, autosomal dominant 20EnrichmentACTG11.67
86Baraitser-winter syndrome 2EnrichmentACTG11.67
87Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitusEnrichmentDNAJC61.67
88Parkinson disease 20, early-onsetEnrichmentSYNJ11.67
89Developmental delay, language impairment, and ocular abnormalitiesEnrichmentARPC41.67
90Immunodeficiency 113 with autoimmunity and autoinflammationEnrichmentARPC51.67
91Immunodeficiency 133EnrichmentARPC51.67
92Uvula, bifidEnrichmentUBB1.63
93Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasiaEnrichmentLDLR1.63
94Dyslexia 2EnrichmentKIAA03191.63
95Nuchal bleb, familialEnrichmentCFTR1.63
96Cleft soft palateEnrichmentUBB1.63
97Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.63
98Intellectual developmental disorder, autosomal dominant 56EnrichmentCLTC1.63
99Torsion dystonia 1EnrichmentTOR1A1.63
100Syndromic x-linked intellectual disability najm typeEnrichmentLDLR1.63
101Nephrogenic diabetes insipidusEnrichmentAVPR21.63
102Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.63
103T-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zetaEnrichmentCD3D1.63
104Intellectual developmental disorder, autosomal dominant 1EnrichmentITSN11.51
105Acyl-coa dehydrogenase, very long-chain, deficiency ofEnrichmentDVL21.51
106Gaucher disease, type iEnrichmentSCARB21.51
107Robinow syndrome, autosomal dominant 1EnrichmentWNT5A1.51
108Epilepsy, progressive myoclonic, 4, with or without renal failureEnrichmentSCARB21.51
109Retinopathy of prematurityEnrichmentFZD41.51
110Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1EnrichmentCLTC1.51
111Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCBL1.51
112ProlactinomaEnrichmentLRP21.51
113Idiopathic bronchiectasisEnrichmentCFTR1.51
114Diabetes insipidusEnrichmentAVP1.51
115Autosomal dominant robinow syndromeEnrichmentWNT5A1.51
116Myopathy, centronuclear, x-linkedEnrichmentDNM21.50
117Developmental and epileptic encephalopathy 31bEnrichmentDNM11.50
118Dent diseaseEnrichmentOCRL1.50
119Exudative vitreoretinopathy 1EnrichmentFZD41.41
120Robinow syndrome, autosomal recessive 1EnrichmentWNT5A1.41
121Norrie diseaseEnrichmentFZD41.41
122Myeloproliferative neoplasmEnrichmentCBL1.41
123PseudohermaphroditismEnrichmentSTON1-GTF2A1L1.41
124Persistent hyperplastic primary vitreousEnrichmentFZD41.41
125Aggressive systemic mastocytosisEnrichmentCBL1.41
126Leukemia, acute myeloidEnrichmentPICALM, SH3GL11.41
127Myopathy, centronuclear, 2EnrichmentBIN11.37
128Aminoacylase 1 deficiencyEnrichmentACTB1.37
129Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.37
130Dystonia 11, myoclonicEnrichmentTOR1A1.34
131Renal tubular dysgenesisEnrichmentAGTR11.34
132Inflammatory myofibroblastic tumorEnrichmentCLTC1.34
133Autosomal recessive robinow syndromeEnrichmentWNT5A1.34
134Lipid metabolism disorderEnrichmentLDLR1.34
135Lung squamous cell carcinomaEnrichmentEGFR1.34
136Developmental and epileptic encephalopathy 31aEnrichmentDNM11.28
137Coloboma of choroid and retinaEnrichmentACTG11.28
138Squamous cell carcinoma, head and neckEnrichmentEGFR1.27
139Coats diseaseEnrichmentFZD41.27
140Noonan syndrome 3EnrichmentCLTC1.27
141Renal cell carcinoma with mit translocationsEnrichmentCLTC1.27
142Autosomal dominant non-syndromic intellectual disabilityEnrichmentCLTC, ITSN11.24
143Exudative vitreoretinopathyEnrichmentFZD41.22
144Severe congenital neutropeniaEnrichmentFCHO11.22
145Isolated split hand-split foot malformationEnrichmentEPS15L11.22
146Bronchiectasis with or without elevated sweat chloride 1EnrichmentCFTR1.17
147Vas deferens, congenital bilateral aplasia ofEnrichmentCFTR1.17
148Myoclonic-atonic epilepsyEnrichmentAP2M11.17
149Adult hepatocellular carcinomaEnrichmentEGF1.17
150Omenn syndromeEnrichmentIL7R1.12
151Neurodegeneration with brain iron accumulationEnrichmentREPS11.12
152Progressive myoclonus epilepsyEnrichmentSCARB21.12
153West syndromeEnrichmentDNM1, SYNJ11.09
154Combined immunodeficiencyEnrichmentTFRC1.08
155Lung non-small cell carcinomaEnrichmentEGFR1.08
156Combined t cell and b cell immunodeficiencyEnrichmentTFRC1.08
157Combined t and b cell immunodeficiencyEnrichmentTFRC1.08
158Lennox-gastaut syndromeEnrichmentDNM11.08
159Juvenile myelomonocytic leukemiaEnrichmentCBL1.05
160Lip and oral cavity carcinomaEnrichmentEGFR1.05
161Cat eye syndromeEnrichmentACTG10.99
162Myoclonic epilepsy of unverricht and lundborgEnrichmentSCARB20.98
163Lung cancer susceptibility 3EnrichmentEGFR0.98
164Congenital myasthenic syndromeEnrichmentSYT20.98
165Hereditary chronic pancreatitisEnrichmentCFTR0.98
16646,xy partial gonadal dysgenesisEnrichmentVAMP70.98
167Lynch syndromeEnrichmentCFTR0.95
168Noonan syndrome and noonan-related syndromeEnrichmentCBL0.95
169RhabdomyosarcomaEnrichmentCBL0.93
170GliosarcomaEnrichmentEGFR0.93
171Hypertension, essentialEnrichmentAGTR10.90
172Pancreatitis, hereditaryEnrichmentCFTR0.90
173Syndromic intellectual disabilityEnrichmentSYT10.90
174Giant cell glioblastomaEnrichmentEGFR0.90
175Stereotypic movement disorderEnrichmentDNM10.88
176Arteriovenous malformations of the brainEnrichmentEGFR0.86
177Esophageal atresia/tracheoesophageal fistulaEnrichmentITSN10.86
178Hepatocellular carcinomaEnrichmentIGF2R0.80
179Tooth agenesisEnrichmentTGFA0.80
180Noonan syndrome 1EnrichmentCBL0.78
181Precursor t-cell acute lymphoblastic leukemiaEnrichmentPICALM0.78
182Jeune thoracic dystrophyEnrichmentGRK20.75
183RasopathyEnrichmentCBL0.73
184Asphyxiating thoracic dystrophyEnrichmentGRK20.70
185LissencephalyEnrichmentACTG10.69
186Centronuclear myopathyEnrichmentDNM20.69
187Bladder cancerEnrichmentEGFR0.69
188Lung cancerEnrichmentEGFR0.65
189Cystic fibrosisEnrichmentCFTR0.65
190Short-rib thoracic dysplasia 1 with or without polydactylyEnrichmentGRK20.64
191Male infertilityEnrichmentCFTR0.63
192Developmental and epileptic encephalopathy 1EnrichmentSYNJ10.62
193DystoniaEnrichmentTOR1A0.62
194Fetal akinesia deformation sequence 1EnrichmentSLC18A30.60
195Benign epilepsy with centrotemporal spikesEnrichmentSCARB20.56
196Centralopathic epilepsyEnrichmentSCARB20.54
197CakutEnrichmentACTG10.51
198Genetic steroid-resistant nephrotic syndromeEnrichmentGAPVD10.51
199Non-syndromic genetic deafnessEnrichmentACTG10.49
200MyopathyEnrichmentDNM20.45
201Myeloma, multipleEnrichmentIL7R0.45
202Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentCFTR0.45
203Charcot-marie-tooth diseaseEnrichmentDNM20.45
204Nonsyndromic hearing lossEnrichmentACTG10.44
205Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentUBQLN20.44
206Primary ovarian insufficiencyEnrichmentIGF2R0.43
207MicrocephalyEnrichmentACTB, ACTG10.42
208Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG10.37
209Breast cancerEnrichmentIL7R0.35
210Ovarian cancerEnrichmentEGFR0.26
211Rare genetic deafnessEnrichmentACTG10.24
212Inherited cancer-predisposing syndromeEnrichmentEGFR0.19
213Hereditary retinal dystrophyEnrichmentFZD4, LRP20.18
214Fundus dystrophyEnrichmentFZD4, LRP20.18

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