Internalization of ErbB1

No Pathway Network information available for Internalization of ErbB1

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

Disorders associated with Internalization of ErbB1 SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Noonan syndrome and noonan-related syndromeEnrichmentCBL, RAF1, SOS15.23
2Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R14.76
3Noonan syndrome 1EnrichmentCBL, RAF1, SOS14.65
4RasopathyEnrichmentCBL, RAF1, SOS14.48
5Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCBL, CDC424.46
6Cowden syndrome 1EnrichmentEGFR, PIK3CA4.07
7Lung squamous cell carcinomaEnrichmentEGFR, PIK3CA4.07
8Noonan syndrome 3EnrichmentRAF1, SOS13.92
9Adult hepatocellular carcinomaEnrichmentEGF, PIK3CA3.69
10Lung non-small cell carcinomaEnrichmentEGFR, PIK3CA3.51
11Lip and oral cavity carcinomaEnrichmentEGFR, PIK3CA3.43
12Colorectal cancerEnrichmentPIK3CA, PIK3R1, SRC2.92
13Bladder cancerEnrichmentEGFR, PIK3CA2.65
14MacrodactylyEnrichmentPIK3CA2.61
15Noonan syndrome 5EnrichmentRAF12.61
16Immunodeficiency 61EnrichmentSH3KBP12.61
17Hypomagnesemia 4, renalEnrichmentEGF2.61
18Noonan syndrome 4EnrichmentSOS12.61
19Megalencephaly, autosomal dominantEnrichmentPIK3CA2.61
20Cardiomyopathy, dilated, 1nnEnrichmentRAF12.61
21Cowden syndrome 5EnrichmentPIK3CA2.61
22Iga nephropathy 3EnrichmentSPRY22.61
23Developmental and epileptic encephalopathy 53EnrichmentSYNJ12.61
24Cerebral cavernous malformations 4EnrichmentPIK3CA2.61
25Short syndromeEnrichmentPIK3R12.61
26Hemifacial myohyperplasiaEnrichmentPIK3CA2.61
27Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.61
28Leopard syndrome 2EnrichmentRAF12.61
29Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.61
30Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.61
31Thrombocytopenia 6EnrichmentSRC2.61
32Takenouchi-kosaki syndromeEnrichmentCDC422.61
33TrigonitisEnrichmentRAF12.61
34Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.61
35Autosomal recessive spastic paraplegia type 59EnrichmentUSP82.61
36HypospadiasEnrichmentPIK3CA2.61
37Rare venous malformationEnrichmentPIK3CA2.61
38Diaphragmatic eventrationEnrichmentPIK3CA2.61
39Nocarh syndromeEnrichmentCDC422.61
40Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.61
41Rare combined vascular malformationEnrichmentPIK3CA2.61
42Cavernous lymphangiomaEnrichmentPIK3CA2.61
43Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.61
44Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.61
45Eccrine angiomatous hamartomaEnrichmentPIK3CA2.61
46Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF2.61
47Macrodactyly of toeEnrichmentPIK3CA2.61
48Lung cancerEnrichmentEGFR, PIK3CA2.57
49Fibromatosis, gingival, 1EnrichmentSOS12.31
50Pituitary adenoma 4, acth-secretingEnrichmentUSP82.31
51Ovarian germ cell cancerEnrichmentCBL2.31
52Pulmonic stenosisEnrichmentSOS12.31
53Keratosis, seborrheicEnrichmentPIK3CA2.31
54Noonan syndrome 8EnrichmentPIK3CA2.31
55Parkinson disease 20, early-onsetEnrichmentSYNJ12.31
56Autoimmune disease, multisystem, infantile-onset, 3EnrichmentCBLB2.31
57Rosette-forming glioneuronal tumorEnrichmentPIK3CA2.31
58Microcephaly-capillary malformation syndromeEnrichmentSTAMBP2.31
59Immune system diseaseEnrichmentCDC422.31
60Malignant germ cell tumor of ovaryEnrichmentCBL2.31
61West syndromeEnrichmentDNM1, SYNJ12.29
62Pompe disease, infantile-onsetEnrichmentPIK3CA2.14
63Nuchal bleb, familialEnrichmentSOS12.14
64Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR2.14
65Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R12.14
66Developmental and epileptic encephalopathy 31bEnrichmentDNM12.14
67Immunodeficiency 14EnrichmentPIK3R12.14
68Atypical juvenile parkinsonismEnrichmentSYNJ12.14
69Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR2.14
70KeratoacanthomaEnrichmentPIK3CA2.14
71Undetermined early-onset epileptic encephalopathyEnrichmentDNM1, SYNJ12.09
72Intellectual developmental disorder, autosomal dominant 1EnrichmentITSN12.01
73Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3CA2.01
74Cerebrovascular diseaseEnrichmentPIK3CA2.01
75Noonan syndrome with multiple lentiginesEnrichmentRAF12.01
76Familial cerebral cavernous malformationsEnrichmentPIK3CA2.01
77Gingival fibromatosisEnrichmentSOS12.01
78Capillary malformations, congenitalEnrichmentPIK3CA1.92
79Developmental and epileptic encephalopathy 31aEnrichmentDNM11.92
80Myeloproliferative neoplasmEnrichmentCBL1.92
81HemimegalencephalyEnrichmentPIK3CA1.92
82Aggressive systemic mastocytosisEnrichmentCBL1.92
83Breast cancerEnrichmentPIK3CA, SHC11.85
84Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.84
85Hemihyperplasia, isolatedEnrichmentPIK3CA1.84
86Breast adenocarcinomaEnrichmentPIK3CA1.84
87Nevus, epidermalEnrichmentPIK3CA1.77
88MyelofibrosisEnrichmentSRC1.77
89Squamous cell carcinoma, head and neckEnrichmentEGFR1.77
90Capillary malformation-arteriovenous malformation 1EnrichmentPIK3CA1.77
91Gallbladder cancerEnrichmentPIK3CA1.77
92Pilomyxoid astrocytomaEnrichmentRAF11.77
93Overgrowth syndromeEnrichmentPIK3R11.77
94Melanocytic nevus syndrome, congenitalEnrichmentRAF11.71
95Lennox-gastaut syndromeEnrichmentDNM11.71
96Arteriovenous malformationEnrichmentPIK3CA1.66
97Primary hyperaldosteronismEnrichmentUSP81.66
98Cowden syndromeEnrichmentPIK3CA1.66
99Myopathy, x-linked, with excessive autophagyEnrichmentPIK3CA1.62
100Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R11.62
101Ovarian cancerEnrichmentEGFR, PIK3CA1.60
102Juvenile myelomonocytic leukemiaEnrichmentCBL1.54
103Early-onset parkinson's diseaseEnrichmentSYNJ11.54
104MeningiomaEnrichmentPIK3CA1.54
105Aortic valve disease 1EnrichmentSOS11.51
106Stereotypic movement disorderEnrichmentDNM11.51
107Nk-cell enteropathyEnrichmentPIK3CB1.51
108OsteoporosisEnrichmentSRC1.47
109Lung cancer susceptibility 3EnrichmentEGFR1.47
11046,xy partial gonadal dysgenesisEnrichmentSOS11.47
111Lynch syndromeEnrichmentPIK3CA1.44
112RhabdomyosarcomaEnrichmentCBL1.42
113GliosarcomaEnrichmentEGFR1.42
114Giant cell glioblastomaEnrichmentEGFR1.39
115Arteriovenous malformations of the brainEnrichmentEGFR1.34
116Esophageal atresia/tracheoesophageal fistulaEnrichmentITSN11.34
117Endometrial cancerEnrichmentPIK3CA1.30
118Hepatocellular carcinomaEnrichmentPIK3CA1.28
119Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF11.25
120Developmental and epileptic encephalopathy 1EnrichmentSYNJ11.23
121Prostate cancerEnrichmentPIK3CA1.17
122Familial hypertrophic cardiomyopathyEnrichmentRAF11.11
123Left ventricular noncompactionEnrichmentRAF11.09
124Gastric cancerEnrichmentPIK3CA1.00
125Hereditary breast carcinomaEnrichmentPIK3CA0.99
126ThrombocytopeniaEnrichmentSRC0.96
127Autosomal dominant non-syndromic intellectual disabilityEnrichmentITSN10.94
128HypertelorismEnrichmentPIK3CA0.92
129Familial isolated dilated cardiomyopathyEnrichmentRAF10.92
130Dilated cardiomyopathyEnrichmentRAF10.75
131Inherited cancer-predisposing syndromeEnrichmentEGFR0.56

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