CXCR4-mediated signaling events

No Pathway Network information available for CXCR4-mediated signaling events

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

Disorders associated with CXCR4-mediated signaling events SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Severe combined immunodeficiencyEnrichmentCD247, CD3D, CD3E, CD3G, LCK, PTPRC8.37
2T-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zetaEnrichmentCD247, CD3D, CD3E7.15
3Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R14.28
4HemimegalencephalyEnrichmentMTOR, PIK3CA3.76
5Breast adenocarcinomaEnrichmentAKT1, PIK3CA3.59
6Overgrowth syndromeEnrichmentMTOR, PIK3R13.44
7Cowden syndromeEnrichmentAKT1, PIK3CA3.21
8MeningiomaEnrichmentAKT1, PIK3CA2.95
9MacrodactylyEnrichmentPIK3CA2.38
10Proteus syndromeEnrichmentAKT12.38
11Megalencephaly, autosomal dominantEnrichmentPIK3CA2.38
12Cowden syndrome 5EnrichmentPIK3CA2.38
13Whim syndrome 1EnrichmentCXCR42.38
14Cerebral cavernous malformations 4EnrichmentPIK3CA2.38
15Pseudo-torch syndrome 3EnrichmentSTAT22.38
16Short syndromeEnrichmentPIK3R12.38
17Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK12.38
18Okt4 epitope deficiencyEnrichmentCD42.38
19Myopia 26, x-linked, female-limitedEnrichmentARR32.38
20Immunodeficiency 18EnrichmentCD3E2.38
21Immunodeficiency 25EnrichmentCD2472.38
22Hemifacial myohyperplasiaEnrichmentPIK3CA2.38
23Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.38
24Autoimmune disease, multisystem, with facial dysmorphismEnrichmentITCH2.38
25Immunodeficiency 31aEnrichmentSTAT12.38
26Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.38
27Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic faciesEnrichmentRAP1B2.38
28Cowden syndrome 6EnrichmentAKT12.38
29Graham little-piccardi-lassueur syndromeEnrichmentHLA-DRA2.38
30Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.38
31Immunodeficiency 97 with autoinflammationEnrichmentPIK3CG2.38
32Immunodeficiency 31bEnrichmentSTAT12.38
33Immunodeficiency 105, severe combinedEnrichmentPTPRC2.38
34Immunodeficiency 22EnrichmentLCK2.38
35Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB12.38
36Immunodeficiency 79EnrichmentCD42.38
37Cd45 deficiencyEnrichmentPTPRC2.38
38Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.38
39Immunodeficiency 19, severe combinedEnrichmentCD3D2.38
40Syndromic multisystem autoimmune disease due to itch deficiencyEnrichmentITCH2.38
41HypospadiasEnrichmentPIK3CA2.38
42Rare venous malformationEnrichmentPIK3CA2.38
43Vegetative pyoderma gangrenosumEnrichmentPTPN62.38
44Bullous pyoderma gangrenosumEnrichmentPTPN62.38
45Diaphragmatic eventrationEnrichmentPIK3CA2.38
46Pustular pyoderma gangrenosumEnrichmentPTPN62.38
47Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.38
48Immunodeficiency 19EnrichmentCD3D2.38
49Rare combined vascular malformationEnrichmentPIK3CA2.38
50Cavernous lymphangiomaEnrichmentPIK3CA2.38
51Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.38
52Classic pyoderma gangrenosumEnrichmentPTPN62.38
53Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.38
54Eccrine angiomatous hamartomaEnrichmentPIK3CA2.38
55Macrodactyly of toeEnrichmentPIK3CA2.38
56Colorectal cancerEnrichmentAKT1, PIK3CA, PIK3R12.24
57Keratosis, seborrheicEnrichmentPIK3CA2.08
58Noonan syndrome 8EnrichmentPIK3CA2.08
59Thrombocythemia 3EnrichmentJAK22.08
60Immunodeficiency 31cEnrichmentSTAT12.08
61Cebalid syndromeEnrichmentMTOR2.08
62Rosette-forming glioneuronal tumorEnrichmentPIK3CA2.08
63Metaphyseal anadysplasia 2EnrichmentMMP92.08
64Immunodeficiency 104, severe combinedEnrichmentPTPRC2.08
65Immunodeficiency 17EnrichmentCD3G2.08
66Smith-kingsmore syndromeEnrichmentMTOR2.08
67PolycythemiaEnrichmentJAK22.08
68Metaphyseal anadysplasiaEnrichmentMMP92.08
69Hypereosinophilic syndromeEnrichmentJAK22.08
70Cerebral visual impairmentEnrichmentGNB12.08
71Polycythemia veraEnrichmentJAK21.90
72Pompe disease, infantile-onsetEnrichmentPIK3CA1.90
73Neutrophilic dermatosis, acute febrileEnrichmentPTPN61.90
74Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.90
75Developmental and epileptic encephalopathy 31bEnrichmentDNM11.90
76Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK21.90
77Immunodeficiency 14EnrichmentPIK3R11.90
78Immunodeficiency 44EnrichmentSTAT21.90
79KeratoacanthomaEnrichmentPIK3CA1.90
80Hereditary breast carcinomaEnrichmentAKT1, PIK3CA1.83
81Erythrocytosis, familial, 1EnrichmentJAK21.78
82Budd-chiari syndromeEnrichmentJAK21.78
83Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3CA1.78
84Focal cortical dysplasia, type iiEnrichmentMTOR1.78
85Cerebrovascular diseaseEnrichmentPIK3CA1.78
86Familial cerebral cavernous malformationsEnrichmentPIK3CA1.78
87Isolated focal cortical dysplasia type iiEnrichmentMTOR1.78
88Capillary malformations, congenitalEnrichmentPIK3CA1.68
89Rhabdomyosarcoma 2EnrichmentFOXO11.68
90Developmental and epileptic encephalopathy 31aEnrichmentDNM11.68
91Myeloproliferative neoplasmEnrichmentJAK21.68
92Undetermined early-onset epileptic encephalopathyEnrichmentDNM1, LIMK11.64
93Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.60
94Cowden syndrome 1EnrichmentPIK3CA1.60
95Hemihyperplasia, isolatedEnrichmentPIK3CA1.60
96Chronic mucocutaneous candidiasisEnrichmentSTAT11.60
97Lung squamous cell carcinomaEnrichmentPIK3CA1.60
98Primary ovarian insufficiencyEnrichmentJAK2, RICTOR1.59
99Nevus, epidermalEnrichmentPIK3CA1.54
100MyelofibrosisEnrichmentJAK21.54
101Capillary malformation-arteriovenous malformation 1EnrichmentPIK3CA1.54
102Renal cell carcinoma, papillary, 1EnrichmentMTOR1.54
103Essential thrombocythemiaEnrichmentJAK21.54
104Gallbladder cancerEnrichmentPIK3CA1.54
105Oligoarticular juvenile idiopathic arthritisEnrichmentCD2471.54
106Rheumatoid factor-negative juvenile idiopathic arthritisEnrichmentCD2471.54
107Lennox-gastaut syndromeEnrichmentDNM11.48
108HypothyroidismEnrichmentGNB11.48
109Leukemia, acute lymphoblastic 3EnrichmentJAK21.43
110Arteriovenous malformationEnrichmentPIK3CA1.43
111Adult hepatocellular carcinomaEnrichmentPIK3CA1.43
112Breast cancerEnrichmentAKT1, PIK3CA1.40
113Myopathy, x-linked, with excessive autophagyEnrichmentPIK3CA1.38
114Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R11.38
115Leukemia, acute lymphoblasticEnrichmentGNB11.34
116Myelodysplastic syndromeEnrichmentGNB11.34
117Lung non-small cell carcinomaEnrichmentPIK3CA1.34
118Lip and oral cavity carcinomaEnrichmentPIK3CA1.31
119Chromosome 1p36 deletion syndromeEnrichmentPRKCZ1.27
120Stereotypic movement disorderEnrichmentDNM11.27
121Nk-cell enteropathyEnrichmentPIK3CB1.27
122Renal cell carcinoma, nonpapillaryEnrichmentMTOR1.21
123Lynch syndromeEnrichmentPIK3CA1.21
124Rare genetic intellectual disabilityEnrichmentMTOR1.21
125Ovarian cancerEnrichmentAKT1, PIK3CA1.17
126Cleft palate, isolatedEnrichmentGNB11.16
127Human immunodeficiency virus type 1EnrichmentCXCL121.14
128Diffuse large b-cell lymphomaEnrichmentFOXO11.11
129Williams-beuren syndromeEnrichmentLIMK11.09
130Endometrial cancerEnrichmentPIK3CA1.07
131Hepatocellular carcinomaEnrichmentPIK3CA1.05
132Jeune thoracic dystrophyEnrichmentGRK21.00
133StrabismusEnrichmentGNB10.97
134Asphyxiating thoracic dystrophyEnrichmentGRK20.95
135Bladder cancerEnrichmentPIK3CA0.94
136Prostate cancerEnrichmentPIK3CA0.94
137Lung cancerEnrichmentPIK3CA0.90
138Short-rib thoracic dysplasia 1 with or without polydactylyEnrichmentGRK20.89
139DystoniaEnrichmentGNB10.86
140Cerebral palsyEnrichmentGNB10.82
141Leukemia, acute myeloidEnrichmentJAK20.81
142Gastric cancerEnrichmentPIK3CA0.78
143West syndromeEnrichmentDNM10.77
144Autosomal dominant non-syndromic intellectual disabilityEnrichmentGNB10.72
145HypertelorismEnrichmentPIK3CA0.71
146Hereditary breast ovarian cancer syndromeEnrichmentBCAR10.68
147Autism spectrum disorderEnrichmentGNB10.43
148MicrocephalyEnrichmentGNB10.39

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