Blood-Brain Barrier and Immune Cell Transmigration: Overview

No Pathway Network information available for Blood-Brain Barrier and Immune Cell Transmigration: Overview

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

Disorders associated with Blood-Brain Barrier and Immune Cell Transmigration: Overview SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Junctional epidermolysis bullosaEnrichmentITGA6, ITGB4, LAMA34.95
2Epidermolysis bullosa, junctional 1a, intermediateEnrichmentITGB4, LAMA33.40
3Epidermolysis bullosa, junctional 5b, with pyloric atresiaEnrichmentITGA6, ITGB43.40
4Junctional epidermolysis bullosa non-herlitz typeEnrichmentITGB4, LAMA33.40
5Fetomaternal alloimmune thrombocytopenia 1EnrichmentITGA2, ITGB33.40
6Nephrotic syndromeEnrichmentFN1, ITGA3, LAMB22.84
7Walker-warburg syndromeEnrichmentCOL4A1, DAG12.63
8Corpus callosum, agenesis ofEnrichmentCDH2, COL4A12.57
9Isolated corpus callosum agenesisEnrichmentCDH2, COL4A12.57
10Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCDH2, COL4A12.57
11MicrocephalyEnrichmentACTB, COL4A1, CTNNB1, SLC2A12.41
12Palmoplantar keratoderma and congenital alopecia 1EnrichmentGJA12.28
13Pseudo-torch syndrome 1EnrichmentOCLN2.28
14Atrophoderma vermiculataEnrichmentLRP12.28
15Hypoplastic left heart syndrome 1EnrichmentGJA12.28
16Baraitser-winter syndrome 1EnrichmentACTB2.28
17Systemic lupus erythematosus 6EnrichmentITGAM2.28
18Stomatin-deficient cryohydrocytosis with neurologic defectsEnrichmentSLC2A12.28
19Oculodentodigital dysplasiaEnrichmentGJA12.28
20Cardiomyopathy, dilated, 1jjEnrichmentLAMA42.28
21Colchicine resistanceEnrichmentABCB12.28
22Uric acid concentration, serum, quantitative trait locus 1EnrichmentABCG22.28
23Keratosis pilaris atrophicansEnrichmentLRP12.28
24Muscular dystrophy-dystroglycanopathy , type a, 9EnrichmentDAG12.28
25Erythrocyte lactate transporter defectEnrichmentSLC16A12.28
26Craniometaphyseal dysplasia, autosomal recessiveEnrichmentGJA12.28
27Basal ganglia calcification, idiopathic, 8, autosomal recessiveEnrichmentJAM22.28
28Helix syndromeEnrichmentCLDN102.28
29Encephalopathy, acute transientEnrichmentABCB12.28
30Deafness, autosomal dominant 77EnrichmentABCC12.28
31Deafness, autosomal recessive 116EnrichmentCLDN92.28
32Allan-herndon-dudley syndromeEnrichmentSLC16A22.28
33Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB2.28
34Azoospermia, obstructive, with nephrolithiasisEnrichmentCLDN22.28
35PorencephalyEnrichmentCOL4A12.28
36Agenesis of corpus callosum, cardiac, ocular, and genital syndromeEnrichmentCDH22.28
37Oculodentodigital dysplasia, autosomal recessiveEnrichmentGJA12.28
38Inflammatory bowel disease 13EnrichmentABCB12.28
39Becker nevus syndromeEnrichmentACTB2.28
40Dystonia-deafness syndrome 1EnrichmentACTB2.28
41Arrhythmogenic right ventricular dysplasia, familial, 14EnrichmentCDH22.28
42Epilepsy, idiopathic generalized 12EnrichmentSLC2A12.28
43Hemorrhagic destruction of the brain, subependymal calcification, and cataractsEnrichmentJAM32.28
44Muscular dystrophy-dystroglycanopathy , type c, 9EnrichmentDAG12.28
45Blood group, junior systemEnrichmentABCG22.28
46Leukodystrophy, hypomyelinating, 22EnrichmentCLDN112.28
47Erythrokeratodermia variabilis et progressiva 3EnrichmentGJA12.28
48Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB2.28
49Attention deficit-hyperactivity disorder 8EnrichmentCDH22.28
50Adenoid ameloblastomaEnrichmentCTNNB12.28
51Baraitser-winter syndromeEnrichmentACTB2.28
52Col4a1-related disordersEnrichmentCOL4A12.28
53Fetomaternal alloimmune thrombocytopenia 3EnrichmentITGA22.28
54Col4a1 or col4a2-related cerebral small vessel diseaseEnrichmentCOL4A12.28
55Immune dysregulation, neurodevelopmental defects, and colitisEnrichmentITGAV2.28
56Congenital smooth muscle hamartomaEnrichmentACTB2.28
57Developmental malformations-deafness-dystonia syndromeEnrichmentACTB2.28
58Epilepsy with myoclonic absencesEnrichmentSLC2A12.28
59Muscle-eye-brain disease with bilateral multicystic leucodystrophyEnrichmentDAG12.28
60Porencephaly-microcephaly-bilateral congenital cataract syndromeEnrichmentJAM32.28
61Hereditary cryohydrocytosis with reduced stomatinEnrichmentSLC2A12.28
62Microcystic stromal tumorEnrichmentCTNNB12.28
63Leukocyte adhesion deficiency, type iEnrichmentITGB21.98
64Spondyloepimetaphyseal dysplasia, strudwick typeEnrichmentFN11.98
65Spondylometaphyseal dysplasia, corner fracture typeEnrichmentFN11.98
66Epidermolysis bullosa, junctional 2c, laryngoonychocutaneousEnrichmentLAMA31.98
67Myasthenic syndrome, congenital, 5EnrichmentLAMB21.98
68Osteopathia striata with cranial sclerosisEnrichmentCTNNB11.98
69Dystonia 9EnrichmentSLC2A11.98
70Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitisEnrichmentCLDN11.98
71Glut1 deficiency syndrome 1EnrichmentSLC2A11.98
72Leukocyte adhesion deficiency, type iiiEnrichmentITGB21.98
73Monocarboxylate transporter 1 deficiencyEnrichmentSLC16A11.98
74Hallermann-streiff syndromeEnrichmentGJA11.98
75Hypomagnesemia 5, renal, with or without ocular involvementEnrichmentCLDN191.98
76Pierson syndromeEnrichmentLAMB21.98
77Schwartz-jampel syndrome, type 1EnrichmentHSPG21.98
78Syndactyly, type iiiEnrichmentGJA11.98
79Syndactyly, type vEnrichmentGJA11.98
80Epidermolysis bullosa, junctional 2a, intermediateEnrichmentLAMA31.98
81Epidermolysis bullosa, junctional 5a, intermediateEnrichmentITGB41.98
82Developmental dysplasia of the hip 3EnrichmentLRP11.98
83Nephrotic syndrome, type 5, with or without ocular abnormalitiesEnrichmentLAMB21.98
84Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndromeEnrichmentITGA31.98
85Childhood hepatocellular carcinomaEnrichmentCTNNB11.98
86Glucose transporter type 1 deficiency syndromeEnrichmentSLC2A11.98
87Renal hypomagnesemia 5 with ocular involvementEnrichmentCLDN191.98
88Craniometaphyseal dysplasiaEnrichmentGJA11.98
89Hyperinsulinemic hypoglycemia, familial, 7EnrichmentSLC16A11.98
90Epidermolysis bullosa, junctional 2b, severeEnrichmentLAMA31.98
91Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB1.98
92Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB11.98
93Localized junctional epidermolysis bullosa, non-herlitz typeEnrichmentITGB41.98
94Ketoacidosis due to monocarboxylate transporter-1 deficiencyEnrichmentSLC16A11.98
95TeratomaEnrichmentCTNNB11.98
96Desmoid disease, hereditaryEnrichmentCTNNB11.81
97Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentITGB31.81
98Retinal arteries, tortuosity ofEnrichmentCOL4A11.81
99Bleeding disorder, platelet-type, 16EnrichmentITGB31.81
100Dubin-johnson syndromeEnrichmentABCC21.81
101Dyssegmental dysplasia, silverman-handmaker typeEnrichmentHSPG21.81
102Hyperbilirubinemia, rotor typeEnrichmentSLCO1B11.81
103Glomerulopathy with fibronectin deposits 2EnrichmentFN11.81
104Glut1 deficiency syndrome 2EnrichmentSLC2A11.81
105Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.81
106Anus, imperforateEnrichmentCTNNB11.81
107Microangiopathy and leukoencephalopathy, pontine, autosomal dominantEnrichmentCOL4A11.81
108Exudative vitreoretinopathy 7EnrichmentCTNNB11.81
109Epidermolysis bullosa, junctional 6, with pyloric atresiaEnrichmentITGA61.81
110Keratosis follicularis spinulosa decalvansEnrichmentLRP11.81
111Desmoid tumorEnrichmentCTNNB11.81
112Poretti-boltshauser syndromeEnrichmentLAMA11.81
113Chromosome 17q23.1-q23.2 deletion syndromeEnrichmentSLC2A11.81
114Angiopathy, hereditary, with nephropathy, aneurysms, and muscle crampsEnrichmentCOL4A11.81
115Bleeding disorder, platelet-type, 24EnrichmentITGB31.81
116Brain small vessel disease 1 with or without ocular anomaliesEnrichmentCOL4A11.68
117SchizencephalyEnrichmentCOL4A11.68
118Epidermolysis bullosa simplex 5c, with pyloric atresiaEnrichmentITGB41.68
119PilomatrixomaEnrichmentCTNNB11.68
120Retinitis pigmentosa 26EnrichmentITGA41.68
121Aminoacylase 1 deficiencyEnrichmentACTB1.68
122Alazami syndromeEnrichmentCTNNB11.68
123CraniopharyngiomaEnrichmentCTNNB11.68
124Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.68
125Epidermolysis bullosa simplex 1c, localizedEnrichmentITGB41.59
126Exudative vitreoretinopathy 1EnrichmentCTNNB11.59
127Myasthenic syndrome, congenital, 8EnrichmentAGRN1.59
128Glanzmann thrombasthenia 2EnrichmentITGB31.59
129Epidermolysis bullosaEnrichmentITGA61.59
130Aplasia cutis congenitaEnrichmentITGB41.59
131Cleft upper lipEnrichmentGJA11.59
132Familial porencephalyEnrichmentCOL4A11.59
133Weyers acrofacial dysostosisEnrichmentCTNNB11.51
134Epidermolysis bullosa, junctional 1b, severeEnrichmentLAMA31.51
135Pseudoxanthoma elasticumEnrichmentABCC21.51
136Anterior segment dysgenesis 5EnrichmentCOL4A11.51
137Hemorrhage, intracerebralEnrichmentCOL4A11.51
138KeratoconusEnrichmentCOL4A11.51
139Adrenocortical carcinomaEnrichmentCTNNB11.51
140Glanzmann thrombasthenia 1EnrichmentITGB31.44
141Gallbladder cancerEnrichmentCTNNB11.44
142Epidermolysis bullosa simplexEnrichmentITGB41.44
143Paroxysmal dystoniaEnrichmentSLC2A11.44
144Erythrokeratodermia variabilis et progressiva 1EnrichmentGJA11.39
145Basal ganglia calcification, idiopathic, 1EnrichmentJAM21.39
146Exudative vitreoretinopathyEnrichmentCTNNB11.39
147Alternating hemiplegia of childhoodEnrichmentSLC2A11.39
148Hypoplastic left heart syndromeEnrichmentGJA11.39
149Myoclonic-atonic epilepsyEnrichmentSLC2A11.34
150Adult hepatocellular carcinomaEnrichmentCTNNB11.34
151Peters-plus syndromeEnrichmentCOL4A11.29
152NephrocalcinosisEnrichmentCLDN191.29
153NephrolithiasisEnrichmentCLDN191.29
154Autosomal dominant macrothrombocytopeniaEnrichmentITGB31.29
155Gilbert syndromeEnrichmentSLCO1B11.25
156Epilepsy, idiopathic generalizedEnrichmentABCB11.25
157Presynaptic congenital myasthenic syndromesEnrichmentAGRN1.25
158Postsynaptic congenital myasthenic syndromesEnrichmentAGRN1.21
159Neural tube defectsEnrichmentITGB11.18
160Chromosome 1p36 deletion syndromeEnrichmentHSPG21.18
161Multiple sclerosisEnrichmentITGB41.15
162MedulloblastomaEnrichmentCTNNB11.15
163Congenital myasthenic syndromeEnrichmentAGRN1.15
164Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentCDH21.15
165Isolated macular dystrophyEnrichmentITGA41.15
166Anterior segment dysgenesisEnrichmentCOL4A11.12
167Kidney diseaseEnrichmentLAMB21.12
168Creatine phosphokinase, elevated serumEnrichmentDAG11.09
169Isolated elevated serum creatine phosphokinase levelsEnrichmentDAG11.09
170Isolated congenital microcephalyEnrichmentOCLN1.09
171Polycystic liver diseaseEnrichmentCTNNB11.07
172Autosomal dominant polycystic liver diseaseEnrichmentCTNNB11.07
173Arteriovenous malformations of the brainEnrichmentCDH21.02
174HepatoblastomaEnrichmentCTNNB10.98
175Hepatocellular carcinomaEnrichmentCTNNB10.96
176Myocardial infarctionEnrichmentITGB30.96
177Skin diseaseEnrichmentITGB40.96
178Developmental and epileptic encephalopathy 1EnrichmentSLC2A10.91
179Auditory neuropathyEnrichmentCDH20.89
180StrabismusEnrichmentSLC2A10.88
181Bladder cancerEnrichmentCTNNB10.85
182Severe covid-19EnrichmentITGAV0.85
183Male infertilityEnrichmentCLDN20.79
184CakutEnrichmentCOL4A10.79
185Systemic lupus erythematosusEnrichmentITGAM0.73
186Cerebral palsyEnrichmentCOL4A10.73
187EpilepsyEnrichmentSLC2A10.72
188Benign epilepsy with centrotemporal spikesEnrichmentSLC2A10.71
189Hereditary spastic paraplegiaEnrichmentSLC16A20.70
190Centralopathic epilepsyEnrichmentSLC2A10.69
191West syndromeEnrichmentSLC2A10.69
192ThrombocytopeniaEnrichmentITGB30.65
193Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentABCC10.62
194Familial isolated dilated cardiomyopathyEnrichmentLAMA40.61
195Cone-rod dystrophy 2EnrichmentITGA40.52
196Colorectal cancerEnrichmentCTNNB10.43
197Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentGJA10.43
198Ovarian cancerEnrichmentCTNNB10.38
199Congenital nervous system abnormalityEnrichmentCTNNB10.37
200Nervous system diseaseEnrichmentCTNNB10.37
201Hereditary retinal dystrophyEnrichmentITGA4, LAMA10.35
202Fundus dystrophyEnrichmentITGA4, LAMA10.35

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