LT-BetaR Pathway

No Pathway Network information available for LT-BetaR Pathway

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

Disorders associated with LT-BetaR Pathway SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG, NFKBIA5.05
2Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3R24.25
3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R24.25
4Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3003.86
5Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3003.86
6Common variable immunodeficiencyEnrichmentNFKB1, NFKB23.73
7Myeloma, multipleEnrichmentCREBBP, PIK3R2, TRAF53.17
8Rare genetic intellectual disabilityEnrichmentCREBBP, EP3003.02
9Colorectal cancerEnrichmentAKT1, EP300, PIK3R12.61
10Incontinentia pigmentiEnrichmentIKBKG2.52
11Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG2.52
12Leprosy 4EnrichmentLTA2.52
13Fetal encasement syndromeEnrichmentCHUK2.52
1446,xy sex reversal 6EnrichmentMAP3K12.52
15Immunodeficiency 15bEnrichmentIKBKB2.52
16Immunodeficiency 15aEnrichmentIKBKB2.52
17Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG2.52
18Immunodeficiency 132aEnrichmentTRAF32.52
19Immunodeficiency 132bEnrichmentTRAF32.52
20Thrombocytopenia 4EnrichmentCYCS2.52
21Deficiency in anterior pituitary function - variable immunodeficiency syndromeEnrichmentNFKB22.52
22Immunodeficiency 53EnrichmentRELB2.52
23Bartsocas-papas syndrome 2EnrichmentCHUK2.52
24Immunodeficiency 112EnrichmentMAP3K142.52
25Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK2.52
26Nik deficiencyEnrichmentMAP3K142.52
27Proteus syndromeEnrichmentAKT12.51
28Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT22.51
29Ataxia-oculomotor apraxia 3EnrichmentPIK3R52.51
30Noonan syndrome 13EnrichmentMAPK12.51
31Short syndromeEnrichmentPIK3R12.51
32Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT32.51
33Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.51
34Cowden syndrome 6EnrichmentAKT12.51
35Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.51
36Menke-hennekam syndrome 1EnrichmentCREBBP2.51
37Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP2.51
38Capillary hemangiomaEnrichmentAKT32.51
39Menke-hennekam syndromeEnrichmentCREBBP2.51
40Akt2-related familial partial lipodystrophyEnrichmentAKT22.51
41Immunodeficiency 33EnrichmentIKBKG2.22
42Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA2.22
43Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB12.22
44Immunodeficiency, common variable, 10EnrichmentNFKB22.22
45Deafness, autosomal dominant 64EnrichmentDIABLO2.22
46Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA2.22
47Rela fusion-positive ependymomaEnrichmentRELA2.22
48Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG2.22
49Common variable immunodeficiency 12EnrichmentNFKB12.22
50Thumb deformityEnrichmentCREBBP2.21
51Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R52.21
52Menke-hennekam syndrome 2EnrichmentEP3002.21
53Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP2.21
54Senior-loken syndrome 7EnrichmentAKT32.21
55Bardet-biedl syndrome 16EnrichmentAKT32.21
56Psoriatic arthritisEnrichmentLTA2.04
57Nasopharyngeal carcinomaEnrichmentNFKBIA2.04
58T-cell acute lymphoblastic leukemiaEnrichmentBAX2.04
59Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3R12.03
60Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R12.03
61Tethered spinal cord syndromeEnrichmentCREBBP2.03
62Immunodeficiency 14EnrichmentPIK3R12.03
63Intraocular pressure quantitative trait locusEnrichmentCREBBP2.03
64Immunodeficiency, common variable, 1EnrichmentNFKB21.92
65Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.91
66Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG1.82
67Autosomal thrombocytopenia with normal plateletsEnrichmentCYCS1.82
68Herpes simplex virus encephalitisEnrichmentTRAF31.82
69Rubinstein-taybi syndrome 2EnrichmentEP3001.81
70HemimegalencephalyEnrichmentAKT31.81
71Breast adenocarcinomaEnrichmentAKT11.73
72HypertrichosisEnrichmentCREBBP1.73
73MegacolonEnrichmentAKT31.67
74Overgrowth syndromeEnrichmentPIK3R11.67
75Breast cancerEnrichmentIL2, JUN1.67
76Lennox-gastaut syndromeEnrichmentMAPK101.62
77Coronary heart disease 5EnrichmentIKBKG1.57
78Charge syndromeEnrichmentEP3001.56
79Cowden syndromeEnrichmentAKT11.56
80Ciliary dyskinesia, primary, 3EnrichmentNFKB11.53
81PolymicrogyriaEnrichmentAKT31.52
82Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R11.52
8346,xy complete gonadal dysgenesisEnrichmentMAP3K11.48
84Specific learning disabilityEnrichmentMAPK11.47
85MeningiomaEnrichmentAKT11.44
8646,xy partial gonadal dysgenesisEnrichmentMAP3K11.38
87Heart diseaseEnrichmentCREBBP1.37
88Polydactyly, postaxial, type a1EnrichmentEP3001.34
89Corpus callosum, agenesis ofEnrichmentCREBBP1.34
90Isolated corpus callosum agenesisEnrichmentCREBBP1.34
91Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP1.34
92GliosarcomaEnrichmentNFKBIA1.33
93Giant cell glioblastomaEnrichmentNFKBIA1.30
94Human immunodeficiency virus type 1EnrichmentCXCL121.28
95Heart, malformation ofEnrichmentMAPK11.27
96MicrocephalyEnrichmentEP300, MAPK11.26
97Diffuse large b-cell lymphomaEnrichmentCREBBP1.24
98Myocardial infarctionEnrichmentLTA1.19
99Multisystem inflammatory syndrome in childrenEnrichmentTRAF31.19
100MalariaEnrichmentIKBKG1.17
101ScoliosisEnrichmentCREBBP1.14
102Severe combined immunodeficiencyEnrichmentIKBKB1.02
103Type 2 diabetes mellitusEnrichmentAKT20.91
104Hereditary breast carcinomaEnrichmentAKT10.89
105ThrombocytopeniaEnrichmentCYCS0.87
106Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentDIABLO0.84
107AutismEnrichmentCREBBP0.70
108Ovarian cancerEnrichmentMAP3K10.58
109Congenital nervous system abnormalityEnrichmentCREBBP0.55
110Nervous system diseaseEnrichmentCREBBP0.55

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