Signal transduction by L1

No Pathway Network information available for Signal transduction by L1

Pathways in the Signal transduction by L1 SuperPath

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

Disorders associated with Signal transduction by L1 SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Bleeding disorder, platelet-type, 16EnrichmentITGA2B, ITGB35.16
2Cardiofaciocutaneous syndrome 1EnrichmentMAP2K1, MAP2K24.86
3Cardiofaciocutaneous syndromeEnrichmentMAP2K1, MAP2K24.86
4Fetomaternal alloimmune thrombocytopenia 1EnrichmentITGA2B, ITGB34.47
5Glanzmann thrombasthenia 1EnrichmentITGA2B, ITGB34.32
6Autosomal dominant macrothrombocytopeniaEnrichmentITGA2B, ITGB33.99
7Lung non-small cell carcinomaEnrichmentEGFR, MAP2K13.90
8Noonan syndrome and noonan-related syndromeEnrichmentMAP2K1, MAP2K23.63
9GliosarcomaEnrichmentEGFR, FGFR13.57
10Giant cell glioblastomaEnrichmentEGFR, FGFR13.51
11Noonan syndrome 1EnrichmentMAP2K1, MAP2K23.25
12Autism spectrum disorderEnrichmentCSNK2A1, CSNK2B, MAP2K13.22
13RasopathyEnrichmentMAP2K1, MAP2K23.14
14Osteoglophonic dysplasiaEnrichmentFGFR12.81
15Trigonocephaly 1EnrichmentFGFR12.81
16Hydrocephalus due to congenital stenosis of aqueduct of sylviusEnrichmentL1CAM2.81
17Melorheostosis, isolatedEnrichmentMAP2K12.81
18Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.81
19Noonan syndrome 13EnrichmentMAPK12.81
20Corpus callosum, partial agenesis of, x-linkedEnrichmentL1CAM2.81
21Hydrocephalus, congenital, x-linkedEnrichmentL1CAM2.81
22Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK12.81
23Fetomaternal alloimmune thrombocytopenia 2EnrichmentITGA2B2.81
24Masa syndromeEnrichmentL1CAM2.81
25MelorheostosisEnrichmentMAP2K12.81
26Cardiofaciocutaneous syndrome 4EnrichmentMAP2K22.81
27Hartsfield syndromeEnrichmentFGFR12.81
28Okur-chung neurodevelopmental syndromeEnrichmentCSNK2A12.81
29Craniodigital syndrome and intellectual disability syndromeEnrichmentCSNK2B2.81
30Immune dysregulation, neurodevelopmental defects, and colitisEnrichmentITGAV2.81
31X-linked complicated spastic paraplegia type 1EnrichmentL1CAM2.81
32Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC12.81
33Hartsfield-bixler-demyer syndromeEnrichmentFGFR12.81
34ThrombocytopeniaEnrichmentITGA2B, ITGB32.61
35Pfeiffer syndromeEnrichmentFGFR12.51
36Jackson-weiss syndromeEnrichmentFGFR12.51
37Encephalocraniocutaneous lipomatosisEnrichmentFGFR12.51
38Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC12.51
39Poirier-bienvenu neurodevelopmental syndromeEnrichmentCSNK2B2.51
40Rosette-forming glioneuronal tumorEnrichmentFGFR12.51
41Interfrontal craniofaciosynostosisEnrichmentFGFR12.51
42Tafro syndromeEnrichmentMAP2K22.51
43Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentITGB32.33
44Prognathism, mandibularEnrichmentCSNK2B2.33
45Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR12.33
46Langerhans cell histiocytosisEnrichmentMAP2K12.33
47Chromosome 8p11 myeloproliferative syndromeEnrichmentFGFR12.33
48Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR2.33
49Bleeding disorder, platelet-type, 24EnrichmentITGB32.33
50Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR2.33
51Neurofibromatosis-noonan syndromeEnrichmentMAP2K22.21
52Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK12.21
53EnophthalmosEnrichmentCSNK2B2.21
54SyndactylyEnrichmentCSNK2B2.21
55Glanzmann thrombasthenia 2EnrichmentITGB32.11
56Muscular dystrophy, limb-girdle, autosomal recessive 23EnrichmentL1CAM2.11
57HoloprosencephalyEnrichmentFGFR12.11
58Primary hypereosinophilic syndromeEnrichmentFGFR12.11
59Cowden syndrome 1EnrichmentEGFR2.03
60Holoprosencephaly 1EnrichmentFGFR12.03
61Lung squamous cell carcinomaEnrichmentEGFR2.03
62Squamous cell carcinoma, head and neckEnrichmentEGFR1.97
63Capillary malformation-arteriovenous malformation 1EnrichmentMAP2K11.97
64Pilomyxoid astrocytomaEnrichmentFGFR11.97
65Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC11.86
66Arteriovenous malformationEnrichmentMAP2K11.86
67Hypogonadotropic hypogonadismEnrichmentFGFR11.86
68Hydrops fetalisEnrichmentL1CAM1.86
69Myopathy, x-linked, with excessive autophagyEnrichmentMAP2K11.81
70Specific learning disabilityEnrichmentMAPK11.77
71Septooptic dysplasiaEnrichmentFGFR11.73
72Lip and oral cavity carcinomaEnrichmentEGFR1.73
73Neural tube defectsEnrichmentITGB11.70
74Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentFGFR11.67
75Lung cancer susceptibility 3EnrichmentEGFR1.67
76Microform holoprosencephalyEnrichmentFGFR11.61
77Lobar holoprosencephalyEnrichmentFGFR11.61
78Heart, malformation ofEnrichmentMAPK11.56
79Semilobar holoprosencephalyEnrichmentFGFR11.56
80Normosmic congenital hypogonadotropic hypogonadismEnrichmentFGFR11.56
81Arteriovenous malformations of the brainEnrichmentEGFR1.54
82Myocardial infarctionEnrichmentITGB31.47
83Tooth agenesisEnrichmentFGFR11.47
84Kallmann syndromeEnrichmentFGFR11.46
85Bladder cancerEnrichmentEGFR1.36
86Severe covid-19EnrichmentITGAV1.36
87Lung cancerEnrichmentEGFR1.31
88Autosomal dominant non-syndromic intellectual disabilityEnrichmentCSNK2B1.13
89Ovarian cancerEnrichmentEGFR0.84
90MicrocephalyEnrichmentMAPK10.76
91Complex neurodevelopmental disorderEnrichmentCSNK2A10.76
92Inherited cancer-predisposing syndromeEnrichmentEGFR0.73

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