RAC2 GTPase cycle

Pathway network for the RAC2 GTPase cycle SuperPath

Sources:
  • Reactome

Pathways in the RAC2 GTPase cycle SuperPath

#NameSourceGenes
1RAC2 GTPase cycleReactome
2RAC3 GTPase cycleReactome
3RHOG GTPase cycleReactome

Gene overlap in member pathways for RAC2 GTPase cycle SuperPath

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

Disorders associated with RAC2 GTPase cycle SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Chronic granulomatous diseaseEnrichmentCYBA, CYBB, NCF1, NCF2, NCF48.92
2Immunodeficiency 72 with autoinflammation and lymphoproliferationEnrichmentNCKAP1, NCKAP1L4.39
3Immunodeficiency 72EnrichmentNCKAP1, NCKAP1L4.39
4Granulomatous disease, chronic, autosomal recessive, 2EnrichmentNCF1, NCF23.92
5Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R13.92
6Granulomatous disease, chronic, x-linkedEnrichmentCYBB, NCF13.62
7Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3CA, PIK3R23.62
8Martsolf syndrome 1EnrichmentARHGAP35, ARHGAP53.55
9Neural tube defectsEnrichmentITGB1, VANGL12.67
10Cataract 44EnrichmentEPHA2, NHS2.28
11Buschke-ollendorff syndromeEnrichmentLEMD32.27
12Ramon syndromeEnrichmentELMO22.27
13Lipodystrophy, congenital generalized, type 3EnrichmentCAV12.27
14Cardiac valvular dysplasia 1EnrichmentPLD12.27
15Nephrotic syndrome, type 8EnrichmentARHGDIA2.27
16Greenberg dysplasiaEnrichmentLBR2.27
17Pulmonary hypertension, primary, 3EnrichmentCAV12.27
18Pelger-huet anomalyEnrichmentLBR2.27
19Microcephaly 16, primary, autosomal recessiveEnrichmentANKLE22.27
20Spinal muscular atrophy, late-onset, finkel typeEnrichmentVAPB2.27
21Intellectual developmental disorder, x-linked, syndromic, billuart typeEnrichmentOPHN12.27
22Rhizomelic skeletal dysplasia with or without pelger-huet anomalyEnrichmentLBR2.27
23Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunctionEnrichmentLETM12.27
24Knobloch syndrome 2EnrichmentPAK22.27
25Charcot-marie-tooth disease, axonal, type 2bEnrichmentRAB7A2.27
26Short syndromeEnrichmentPIK3R12.27
27Mitochondrial complex i deficiency, nuclear type 8EnrichmentNDUFS32.27
28Charcot-marie-tooth disease type 2bEnrichmentRAB7A2.27
29Vascular malformation, primary intraosseousEnrichmentELMO22.27
30Lipodystrophy, familial partial, type 7EnrichmentCAV12.27
31Amyotrophic lateral sclerosis 8EnrichmentVAPB2.27
32Auditory neuropathy, autosomal dominant 1EnrichmentDIAPH32.27
33Immunodeficiency 40EnrichmentDOCK22.27
34Congenital disorder of glycosylation, type iiaaEnrichmentSTX52.27
35Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.27
36Immunodeficiency 46EnrichmentTFRC2.27
37Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalitiesEnrichmentSHMT22.27
38Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.27
39Reynolds syndromeEnrichmentLBR2.27
40Takenouchi-kosaki syndromeEnrichmentCDC422.27
41Intellectual developmental disorder, autosomal dominant 63, with macrocephalyEnrichmentTRIO2.27
42Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxiaEnrichmentDOCK32.27
43Melorheostosis with osteopoikilosisEnrichmentLEMD32.27
44Primary intraosseous venous malformationEnrichmentELMO22.27
45Autosomal dominant adult-onset proximal spinal muscular atrophyEnrichmentVAPB2.27
46Nocarh syndromeEnrichmentCDC422.27
47Isolated osteopoikilosisEnrichmentLEMD32.27
48Autosomal dominant combined immunodeficiency due to erbin deficiencyEnrichmentERBIN2.27
49Temporomandibular joint anomalyEnrichmentDOCK12.27
50Early-onset nuclear cataractEnrichmentEPHA2, NHS2.24
51MacrodactylyEnrichmentPIK3CA2.19
52Granulomatous disease, chronic, autosomal recessive, 4EnrichmentCYBA2.19
53Nance-horan syndromeEnrichmentNHS2.19
54Immunodeficiency 34EnrichmentCYBB2.19
55Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosisEnrichmentRAC22.19
56Megalencephaly, autosomal dominantEnrichmentPIK3CA2.19
57Cowden syndrome 5EnrichmentPIK3CA2.19
58Cerebral cavernous malformations 4EnrichmentPIK3CA2.19
59Immunodeficiency 87 and autoimmunityEnrichmentDEF62.19
60Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK12.19
61Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaEnrichmentRAC22.19
62Hemifacial myohyperplasiaEnrichmentPIK3CA2.19
63Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.19
64Neurodevelopmental disorder with language delay and seizuresEnrichmentTIAM12.19
65Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopeniaEnrichmentRAC22.19
66Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.19
67HypospadiasEnrichmentPIK3CA2.19
68Congenital dyserythropoietic anemia type iiibEnrichmentRACGAP12.19
69Rare venous malformationEnrichmentPIK3CA2.19
70Diaphragmatic eventrationEnrichmentPIK3CA2.19
71Infantile lad-like disease due to rac2 deficiencyEnrichmentRAC22.19
72Reticular dysgenesis-like severe combined immunodeficiencyEnrichmentRAC22.19
73Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.19
74Rare combined vascular malformationEnrichmentPIK3CA2.19
75Anemia, congenital dyserythropoietic, type iiib, autosomal recessiveEnrichmentRACGAP12.19
76Cavernous lymphangiomaEnrichmentPIK3CA2.19
77Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.19
78Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.19
79Eccrine angiomatous hamartomaEnrichmentPIK3CA2.19
80Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndromeEnrichmentRAC22.19
81Macrodactyly of toeEnrichmentPIK3CA2.19
82Neurodevelopmental disorder with absent language and variable seizuresEnrichmentWASF12.16
83Charcot-marie-tooth disease, axonal, type 2hhEnrichmentJAG12.16
84Neurodevelopmental disorder with structural brain anomalies and dysmorphic faciesEnrichmentRAC32.16
85Lowe oculocerebrorenal syndromeEnrichmentOCRL2.16
86Deafness, congenital heart defects, and posterior embryotoxonEnrichmentJAG12.16
87Myopathy, x-linked, with postural muscle atrophyEnrichmentEMD1.97
88Deafness, autosomal recessive 28EnrichmentTRIO1.97
89OsteopoikilosisEnrichmentLEMD31.97
90Immune system diseaseEnrichmentCDC421.97
91Combined deficiency of factor v and factor viiiEnrichmentLMAN11.97
9212q14 microdeletion syndromeEnrichmentLEMD31.97
93X-linked emery-dreifuss muscular dystrophyEnrichmentEMD1.97
94Anemia, congenital dyserythropoietic, type iiiaEnrichmentRACGAP11.89
95Granulomatous disease, chronic, autosomal recessive, 1EnrichmentNCF11.89
96Cataract 40EnrichmentNHS1.89
97Keratosis, seborrheicEnrichmentPIK3CA1.89
98Granulomatous disease, chronic, autosomal recessive, 3EnrichmentNCF41.89
99Noonan syndrome 8EnrichmentPIK3CA1.89
100Rosette-forming glioneuronal tumorEnrichmentPIK3CA1.89
101Syndromic x-linked intellectual disabilityEnrichmentNHS1.89
102Dent disease 2EnrichmentOCRL1.86
103Factor v and factor viii, combined deficiency of, 1EnrichmentLMAN11.79
104Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.79
105Intellectual developmental disorder, autosomal dominant 44, with microcephalyEnrichmentTRIO1.79
106Immunodeficiency 14EnrichmentPIK3R11.79
107Autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasiaEnrichmentCYBA1.72
108Pompe disease, infantile-onsetEnrichmentPIK3CA1.72
109Chromosome 8p11 myeloproliferative syndromeEnrichmentBCR1.72
110Autoimmune polyendocrine syndrome type 1EnrichmentCYBA1.72
111KeratoacanthomaEnrichmentPIK3CA1.72
112Alagille syndrome 1EnrichmentJAG11.69
113Dent diseaseEnrichmentOCRL1.69
114Intellectual developmental disorder, autosomal dominant 1EnrichmentITSN11.67
115Emery-dreifuss muscular dystrophy 1, x-linkedEnrichmentEMD1.67
116Sacral defect with anterior meningoceleEnrichmentVANGL11.67
117Emery-dreifuss muscular dystrophyEnrichmentEMD1.67
118Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCDC421.67
119OligohydramniosEnrichmentOPHN11.67
120Knobloch syndromeEnrichmentPAK21.67
121Chromosome 22q11.2 deletion syndrome, distalEnrichmentBCR1.59
122Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentPIK3R21.59
123Cerebrovascular diseaseEnrichmentPIK3CA1.59
124Familial cerebral cavernous malformationsEnrichmentPIK3CA1.59
125Cataract 6, multiple typesEnrichmentEPHA21.57
126Knobloch syndrome 1EnrichmentPAK21.57
127AniridiaEnrichmentEPHA21.57
128Diffuse cutaneous systemic sclerosisEnrichmentCAV11.57
129Middle aortic syndromeEnrichmentJAG11.57
130Capillary malformations, congenitalEnrichmentPIK3CA1.50
131HemimegalencephalyEnrichmentPIK3CA1.50
132Wolf-hirschhorn syndromeEnrichmentLETM11.50
133Anterior segment dysgenesis 5EnrichmentARHGAP351.50
134Limited sclerodermaEnrichmentCAV11.50
135Overgrowth syndromeEnrichmentPIK3R11.43
136Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.42
137Cowden syndrome 1EnrichmentPIK3CA1.42
138Hemihyperplasia, isolatedEnrichmentPIK3CA1.42
139Breast adenocarcinomaEnrichmentPIK3CA1.42
140Lung squamous cell carcinomaEnrichmentPIK3CA1.42
141Early-onset posterior polar cataractEnrichmentEPHA21.37
142Nevus, epidermalEnrichmentPIK3CA1.36
143Capillary malformation-arteriovenous malformation 1EnrichmentPIK3CA1.36
144Leukemia, chronic myeloidEnrichmentBCR1.36
145Gallbladder cancerEnrichmentPIK3CA1.36
146B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentBCR1.36
147Coronary heart disease 5EnrichmentKALRN1.32
148Leukoencephalopathy with vanishing white matterEnrichmentANKLE21.32
149Peters-plus syndromeEnrichmentARHGAP351.28
150Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R11.28
151Complex neurodevelopmental disorderEnrichmentRAC3, TIAM1, WASF11.27
152Cardiomyopathy, familial hypertrophic, 4EnrichmentNCF11.25
153Arteriovenous malformationEnrichmentPIK3CA1.25
154Adult hepatocellular carcinomaEnrichmentPIK3CA1.25
155Cowden syndromeEnrichmentPIK3CA1.25
156Combined immunodeficiencyEnrichmentTFRC1.24
157Combined t cell and b cell immunodeficiencyEnrichmentTFRC1.24
158Heritable pulmonary arterial hypertensionEnrichmentCAV11.24
159Combined t and b cell immunodeficiencyEnrichmentTFRC1.24
160Myopathy, x-linked, with excessive autophagyEnrichmentPIK3CA1.21
161Amelogenesis imperfecta, type ieEnrichmentARHGAP61.18
162Lung non-small cell carcinomaEnrichmentPIK3CA1.17
163CataractEnrichmentEPHA21.14
164Juvenile myelomonocytic leukemiaEnrichmentARHGAP261.13
165MeningiomaEnrichmentPIK3CA1.13
166Lip and oral cavity carcinomaEnrichmentPIK3CA1.13
167Amelogenesis imperfectaEnrichmentARHGAP61.07
168Syndromic intellectual disabilityEnrichmentTRIO1.06
169Lynch syndromeEnrichmentPIK3CA1.04
170Neuromuscular diseaseEnrichmentEMD1.03
171Arteriovenous malformations of the brainEnrichmentLEMD31.01
172Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentEMD1.01
173Esophageal atresia/tracheoesophageal fistulaEnrichmentITSN11.01
174Colorectal cancerEnrichmentPIK3CA, PIK3R10.97
175Heart, malformation ofEnrichmentJAG10.93
176Williams-beuren syndromeEnrichmentNCF10.92
177Jeune thoracic dystrophyEnrichmentLBR0.90
178Endometrial cancerEnrichmentPIK3CA0.90
179Hepatocellular carcinomaEnrichmentPIK3CA0.88
180HepatoblastomaEnrichmentJAG10.87
181Precursor t-cell acute lymphoblastic leukemiaEnrichmentBCR0.86
182Asphyxiating thoracic dystrophyEnrichmentLBR0.85
183MicrocephalyEnrichmentANKLE2, TRIO0.85
184Primary autosomal recessive microcephalyEnrichmentANKLE20.80
185Short-rib thoracic dysplasia 1 with or without polydactylyEnrichmentLBR0.79
186Tetralogy of fallotEnrichmentJAG10.79
187Genetic steroid-resistant nephrotic syndromeEnrichmentARHGDIA0.78
188Bladder cancerEnrichmentPIK3CA0.77
189Prostate cancerEnrichmentPIK3CA0.77
190Mitochondrial complex i deficiency, nuclear type 1EnrichmentNDUFS30.73
191Lung cancerEnrichmentPIK3CA0.73
192MyopathyEnrichmentEMD0.71
193Autosomal dominant non-syndromic intellectual disabilityEnrichmentITSN10.63
194Gastric cancerEnrichmentPIK3CA0.62
195Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentDIAPH30.61
196Hereditary breast carcinomaEnrichmentPIK3CA0.61
197Familial isolated dilated cardiomyopathyEnrichmentTMPO0.60
198Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentVAPB0.57
199HypertelorismEnrichmentPIK3CA0.55
200Myeloma, multipleEnrichmentPIK3R20.52
201AutismEnrichmentDOCK40.49
202Dilated cardiomyopathyEnrichmentEMD0.45
203Breast cancerEnrichmentPIK3CA0.42
204Congenital nervous system abnormalityEnrichmentOPHN10.36
205Nervous system diseaseEnrichmentOPHN10.36
206Ovarian cancerEnrichmentPIK3CA0.32
207Hereditary retinal dystrophyEnrichmentJAG10.06
208Fundus dystrophyEnrichmentJAG10.06

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