CCR5 Pathway in Macrophages

Pathway network for the CCR5 Pathway in Macrophages SuperPath

Sources:
  • QIAGEN
  • WikiPathways

Pathways in the CCR5 Pathway in Macrophages SuperPath

#NameSourceGenes
1CCR5 Pathway in MacrophagesQIAGEN
2Chemokine SignalingQIAGEN
3Chemokine signaling pathwayWikiPathways
4Androgen SignalingQIAGEN

Gene overlap in member pathways for CCR5 Pathway in Macrophages SuperPath

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

Disorders associated with CCR5 Pathway in Macrophages SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Human immunodeficiency virus type 1EnrichmentCCL11, CCL2, CCL3, CCL3L1, CCL5, CCR2, CCR5, CX3CR1, CXCL12, CXCR110.82
2Noonan syndrome 1EnrichmentBRAF, HRAS, KRAS, MAP2K1, NRAS, RAF1, SOS1, SOS29.74
3Noonan syndrome and noonan-related syndromeEnrichmentBRAF, HRAS, KRAS, MAP2K1, NRAS, RAF1, SOS19.66
4RasopathyEnrichmentBRAF, HRAS, KRAS, MAP2K1, NRAS, RAF1, SOS1, SOS29.28
5Lung non-small cell carcinomaEnrichmentBRAF, HRAS, KRAS, MAP2K1, NRAS, PIK3CA8.88
6T-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zetaEnrichmentCD247, CD3D, CD3E6.74
7Nevus, epidermalEnrichmentHRAS, KRAS, NRAS, PIK3CA6.14
8Noonan syndrome 3EnrichmentHRAS, KRAS, RAF1, SOS16.14
9Melanocytic nevus syndrome, congenitalEnrichmentBRAF, HRAS, NRAS, RAF15.85
10Langerhans cell histiocytosisEnrichmentBRAF, MAP2K1, NRAS5.75
11Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS5.15
12Cardiofaciocutaneous syndrome 1EnrichmentBRAF, KRAS, MAP2K15.15
13Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3CA, PIK3R25.15
14Cardiofaciocutaneous syndromeEnrichmentBRAF, KRAS, MAP2K15.15
15Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM35.00
16Long qt syndrome 1EnrichmentCACNA1C, CALM1, CALM2, CALM34.61
17Long qt syndromeEnrichmentCACNA1C, CACNA1S, CALM1, CALM24.55
18Breast adenocarcinomaEnrichmentAKT1, KRAS, PIK3CA4.46
19Severe combined immunodeficiencyEnrichmentCD247, CD3D, CD3E, CD3G4.44
20Thyroid cancer, nonmedullary, 2EnrichmentBRAF, HRAS, NRAS4.22
21Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, MAP2K1, PIK3CA4.22
22Gallbladder cancerEnrichmentBRAF, KRAS, PIK3CA4.22
23Pilomyxoid astrocytomaEnrichmentBRAF, KRAS, RAF14.22
24Follicular thyroid carcinomaEnrichmentBRAF, HRAS, NRAS4.22
25Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS, PRKAR1A4.19
2646,xy sex reversal 1EnrichmentAR, SRY4.19
27Fibrolamellar carcinomaEnrichmentDNAJB1, PRKACA4.19
28Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizuresEnrichmentCACNA1A, CACNA1C4.01
29Anastomosing haemangiomaEnrichmentGNA11, GNA144.01
30Arteriovenous malformationEnrichmentHRAS, MAP2K1, PIK3CA3.85
31Pulmonic stenosisEnrichmentBRAF, SOS13.83
32Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS3.83
33Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG, NFKBIA3.83
34Immune system diseaseEnrichmentCDC42, PIK3CD3.83
35Autoimmune lymphoproliferative syndromeEnrichmentFAS, FASLG3.71
36Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K1, PIK3CA3.70
37Congenital stationary night blindnessEnrichmentCACNA1F, CACNA2D4, GNB3, GRK13.53
38Lip and oral cavity carcinomaEnrichmentBRAF, HRAS, PIK3CA3.45
39Differentiated thyroid carcinomaEnrichmentBRAF, HRAS, KRAS, NRAS3.40
40Brugada syndromeEnrichmentCACNA1C, CACNA2D1, CACNB23.36
41Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R13.36
42Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R13.36
43Large congenital melanocytic nevusEnrichmentHRAS, NRAS3.36
44Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK2, STAT33.36
45Immunodeficiency 14EnrichmentPIK3CD, PIK3R13.36
46Juvenile myelomonocytic leukemiaEnrichmentKRAS, NRAS, RRAS3.23
47Auriculocondylar syndrome 1EnrichmentGNAI3, PLCB43.06
48Chromosome 22q11.2 deletion syndrome, distalEnrichmentCRKL, MAPK13.06
49Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R23.06
50Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS3.06
51Noonan syndrome with multiple lentiginesEnrichmentBRAF, RAF13.06
52Lennox-gastaut syndromeEnrichmentCACNA1A, MAPK103.05
53Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3003.03
54Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3003.03
55Primary hyperaldosteronismEnrichmentCACNA1H, GNAS2.94
56MyelofibrosisEnrichmentCALR, SRC2.88
57HemimegalencephalyEnrichmentAKT3, PIK3CA2.84
58Cerebral palsyEnrichmentCACNA1A, CACNA1C, GNB12.84
59Difference of sex developmentEnrichmentAR, CACNA1A2.76
60Lung squamous cell carcinomaEnrichmentKRAS, PIK3CA2.67
61Breast cancerEnrichmentAKT1, GNG3, KRAS, PIK3CA, SHC12.66
62Ellis-van creveld syndromeEnrichmentPRKACA, PRKACB2.65
63Cone-rod dystrophy 6EnrichmentCACNA1F, CACNA2D42.55
64Autosomal dominant non-syndromic intellectual disabilityEnrichmentCACNA1I, CACNG2, GNB12.53
65Leukemia, chronic myeloidEnrichmentKRAS, NRAS2.53
66Melanoma, uvealEnrichmentGNA11, PLCB42.53
6746,xy complete gonadal dysgenesisEnrichmentAR, SRY2.47
68Undetermined early-onset epileptic encephalopathyEnrichmentCACNA1A, CACNA1B, CACNA2D12.39
69Colorectal cancerEnrichmentAKT1, BRAF, NRAS, PIK3CA, PIK3R12.38
70Cardiomyopathy, familial hypertrophic, 4EnrichmentBRAF, NCF12.30
71Cowden syndromeEnrichmentAKT1, PIK3CA2.30
72Bladder cancerEnrichmentHRAS, KRAS, PIK3CA2.29
73Hypocalciuric hypercalcemia, familial, type iiEnrichmentGNA112.24
74Thyrotoxic periodic paralysis 1EnrichmentCACNA1S2.24
75Pseudohypoparathyroidism, type icEnrichmentGNAS2.24
76Epilepsy, idiopathic generalized 9EnrichmentCACNB42.24
77Brugada syndrome 4EnrichmentCACNB22.24
78Osseous heteroplasia, progressiveEnrichmentGNAS2.24
79Episodic ataxia, type 5EnrichmentCACNB42.24
80Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD2.24
81Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS2.24
82Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB22.24
83Pituitary adenoma 3, multiple typesEnrichmentGNAS2.24
84Neurodevelopmental disorder with speech impairment and with or without seizuresEnrichmentCACNA1I2.24
85Congenital myopathy 18EnrichmentCACNA1S2.24
86Okt4 epitope deficiencyEnrichmentCD42.24
87Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG12.24
88Cone-rod dystrophy, x-linked, 3EnrichmentCACNA1F2.24
89Retinal cone dystrophy 4EnrichmentCACNA2D42.24
90Immunodeficiency 18EnrichmentCD3E2.24
91Primary aldosteronism, seizures, and neurologic abnormalitiesEnrichmentCACNA1D2.24
92Immunodeficiency 25EnrichmentCD2472.24
93Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB52.24
94Brugada syndrome 3EnrichmentCACNA1C2.24
95Epilepsy, childhood absence 6EnrichmentCACNA1H2.24
96Malignant hyperthermia 5EnrichmentCACNA1S2.24
97Spinocerebellar ataxia 14EnrichmentPRKCG2.24
98Intellectual developmental disorder, autosomal dominant 10EnrichmentCACNG22.24
99Sinoatrial node dysfunction and deafnessEnrichmentCACNA1D2.24
100Dystonia 25EnrichmentGNAL2.24
101Autoinflammation, antibody deficiency, and immune dysregulationEnrichmentPLCG22.24
102Long qt syndrome 16EnrichmentCALM32.24
103Hypocalcemia, autosomal dominant 2EnrichmentGNA112.24
104Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB42.24
105Type 1 diabetes mellitus 22EnrichmentCCR52.24
106Spinocerebellar ataxia 42EnrichmentCACNA1G2.24
107Developmental and epileptic encephalopathy 110EnrichmentCACNA2D12.24
108Disorders of gnas inactivationEnrichmentGNAS2.24
109Familial cold autoinflammatory syndrome 3EnrichmentPLCG22.24
110Congenital heart defects and ectodermal dysplasiaEnrichmentPRKD12.24
111Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficitsEnrichmentCACNA1G2.24
112Developmental and epileptic encephalopathy 69EnrichmentCACNA1E2.24
113Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB12.24
114Hyperaldosteronism, familial, type ivEnrichmentCACNA1H2.24
115Sick sinus syndrome 4EnrichmentGNB22.24
116Immunodeficiency 79EnrichmentCD42.24
117Immunodeficiency 19, severe combinedEnrichmentCD3D2.24
118Long qt syndrome 15EnrichmentCALM22.24
119Conn's syndromeEnrichmentCACNA1H2.24
120Sporadic hemiplegic migraineEnrichmentCACNA1A2.24
121Atypical timothy syndromeEnrichmentCACNA1C2.24
122Aldosterone-producing adenoma with seizures and neurological abnormalitiesEnrichmentCACNA1D2.24
123Immunodeficiency 19EnrichmentCD3D2.24
124Monostotic fibrous dysplasiaEnrichmentGNAS2.24
125Timothy syndrome type 2EnrichmentCACNA1C2.24
126Periodic paralysis with transient compartment-like syndromeEnrichmentCACNA1S2.24
127Phakomatosis cesiomarmorataEnrichmentGNA112.24
128Malignant epithelial tumor of salivary glandsEnrichmentPRKD12.24
129Kaposiform hemangioendotheliomaEnrichmentGNA142.24
130Mazabraud syndromeEnrichmentGNAS2.24
131Timothy syndrome type 1EnrichmentCACNA1C2.24
132Cacna1c-related disordersEnrichmentCACNA1C2.24
133Benign paroxysmal torticollis of infancyEnrichmentCACNA1A2.24
134Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3CD, PIK3R12.21
135Rare genetic intellectual disabilityEnrichmentCREBBP, EP3002.20
136Lung cancerEnrichmentBRAF, KRAS, PIK3CA2.17
137Acrodysostosis 1 with or without hormone resistanceEnrichmentPRKAR1A2.09
138Prostate cancer, hereditary, x-linked 3EnrichmentAR2.09
139Androgen insensitivity, partialEnrichmentAR2.09
140Carney complex, type 1EnrichmentPRKAR1A2.09
141Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformityEnrichmentTAF22.09
142Ventricular tachycardia, familialEnrichmentGNAI22.09
143Noonan syndrome 13EnrichmentMAPK12.09
144Cardioacrofacial dysplasia 2EnrichmentPRKACB2.09
145Trichothiodystrophy 6, nonphotosensitiveEnrichmentGTF2E22.09
146Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesEnrichmentGNAI12.09
147Myxoma, intracardiacEnrichmentPRKAR1A2.09
148Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA2.09
149Cardioacrofacial dysplasia 1EnrichmentPRKACA2.09
150Thrombocytopenia 6EnrichmentSRC2.09
151Menke-hennekam syndrome 1EnrichmentCREBBP2.09
15245,x/46,xy mixed gonadal dysgenesisEnrichmentSRY2.09
153Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP2.09
154Prkar1b-related neurodegenerative dementia with intermediate filamentsEnrichmentPRKAR1B2.09
155Complete androgen insensitivity syndromeEnrichmentAR2.09
156Menke-hennekam syndromeEnrichmentCREBBP2.09
157MeningiomaEnrichmentAKT1, PIK3CA2.05
158StrabismusEnrichmentCACNA1A, GNB11.98
159Acute promyelocytic leukemiaEnrichmentSTAT3, STAT5B1.98
160Nk-cell enteropathyEnrichmentJAK3, PIK3CB1.98
161Pseudohypoparathyroidism, type iaEnrichmentGNAS1.94
162Cutis marmorata telangiectatica congenitaEnrichmentGNA111.94
163Timothy syndromeEnrichmentCACNA1C1.94
164Night blindness, congenital stationary, type 2aEnrichmentCACNA1F1.94
165West nile virusEnrichmentCCR51.94
166Alternating hemiplegia of childhood 1EnrichmentCACNA1A1.94
167PseudopseudohypoparathyroidismEnrichmentGNAS1.94
168Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM11.94
169Angioma, tuftedEnrichmentGNA141.94
170Night blindness, congenital stationary, type 1hEnrichmentGNB31.94
171Long qt syndrome 14EnrichmentCALM11.94
172Long qt syndrome 8EnrichmentCACNA1C1.94
173Autosomal dominant hypocalcemiaEnrichmentGNA111.94
174PseudohypoparathyroidismEnrichmentGNAS1.94
175Immunodeficiency 17EnrichmentCD3G1.94
176Congenital disorder of glycosylation, type iw, autosomal dominantEnrichmentCACNA1D1.94
177Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB51.94
178Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movementsEnrichmentCACNA1B1.94
179Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS1.94
180Progressive bulbar palsyEnrichmentCACNA1A1.94
181Cerebral visual impairmentEnrichmentGNB11.94
182Phakomatosis cesioflammeaEnrichmentGNA111.94
183Lung cancer susceptibility 3EnrichmentBRAF, KRAS1.92
184MacrodactylyEnrichmentPIK3CA1.91
185Proteus syndromeEnrichmentAKT11.91
186Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT21.91
187Oculoectodermal syndromeEnrichmentKRAS1.91
188Thrombocytopenia 1EnrichmentWAS1.91
189Incontinentia pigmentiEnrichmentIKBKG1.91
190Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG1.91
191Noonan syndrome 5EnrichmentRAF11.91
192Noonan syndrome 4EnrichmentSOS11.91
193Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosisEnrichmentRAC21.91
194Melorheostosis, isolatedEnrichmentMAP2K11.91
195Megalencephaly, autosomal dominantEnrichmentPIK3CA1.91
196Noonan syndrome 7EnrichmentBRAF1.91
197Leopard syndrome 3EnrichmentBRAF1.91
198Cardiomyopathy, dilated, 1nnEnrichmentRAF11.91
199Cowden syndrome 5EnrichmentPIK3CA1.91
200Polycystic lung diseaseEnrichmentCCR21.91
201Cardiofaciocutaneous syndrome 3EnrichmentMAP2K11.91
202Melanosis, neurocutaneousEnrichmentNRAS1.91
203Noonan syndrome 9EnrichmentSOS21.91
204Bleeding disorder, platelet-type, 18EnrichmentRASGRP21.91
205Dyskinesia with orofacial involvement, autosomal dominantEnrichmentADCY51.91
206Noonan syndrome 6EnrichmentNRAS1.91
207Fetal encasement syndromeEnrichmentCHUK1.91
208Deafness, autosomal recessive 44EnrichmentADCY11.91
209Whim syndrome 1EnrichmentCXCR41.91
210Ataxia-oculomotor apraxia 3EnrichmentPIK3R51.91
211Cerebral cavernous malformations 4EnrichmentPIK3CA1.91
212Immunodeficiency 15bEnrichmentIKBKB1.91
213Pseudo-torch syndrome 3EnrichmentSTAT21.91
214Spondylometaphyseal dysplasia with corneal dystrophyEnrichmentPLCB31.91
215Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominantEnrichmentSTAT5B1.91
216Neurodevelopmental disorder with hyperkinetic movements and dyskinesiaEnrichmentADCY51.91
217Immunodeficiency 15aEnrichmentIKBKB1.91
218Short syndromeEnrichmentPIK3R11.91
219Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK11.91
220Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG1.91
221Auriculocondylar syndrome 2aEnrichmentPLCB41.91
222Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaEnrichmentRAC21.91
223T-cell large granular lymphocyte leukemiaEnrichmentSTAT31.91
224Cardiofaciocutaneous syndrome 2EnrichmentKRAS1.91
225Dyskinesia with orofacial involvement, autosomal recessiveEnrichmentADCY51.91
226Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT31.91
227LymphangiomaEnrichmentBRAF1.91
228Hemifacial myohyperplasiaEnrichmentPIK3CA1.91
229Immunodeficiency 40EnrichmentDOCK21.91
230Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA1.91
231Phace associationEnrichmentBRAF1.91
232Lymphoproliferative syndrome 1EnrichmentITK1.91
233MelorheostosisEnrichmentMAP2K11.91
234Leopard syndrome 2EnrichmentRAF11.91
235Immunodeficiency 31aEnrichmentSTAT11.91
236Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R11.91
237Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic faciesEnrichmentRAP1B1.91
238Cowden syndrome 6EnrichmentAKT11.91
239Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD1.91
240Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R11.91
241Immunodeficiency 97 with autoinflammationEnrichmentPIK3CG1.91
242Immunodeficiency 31bEnrichmentSTAT11.91
243Macular degeneration, age-related, 12EnrichmentCX3CR11.91
244Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT31.91
245Was-related disordersEnrichmentWAS1.91
246Takenouchi-kosaki syndromeEnrichmentCDC421.91
247Bartsocas-papas syndrome 2EnrichmentCHUK1.91
248Autoinflammatory disease, systemic, with vasculitisEnrichmentLYN1.91
249Neurodevelopmental disorder with language delay and seizuresEnrichmentTIAM11.91
250Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopeniaEnrichmentRAC21.91
251TrigonitisEnrichmentRAF11.91
252Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA1.91
253Auriculocondylar syndrome 2bEnrichmentPLCB41.91
254Whim syndrome 2EnrichmentCXCR21.91
255T-b+ severe combined immunodeficiency due to jak3 deficiencyEnrichmentJAK31.91
256Autoinflammation with pulmonary and cutaneous vasculitisEnrichmentHCK1.91
257HypospadiasEnrichmentPIK3CA1.91
258Capillary hemangiomaEnrichmentAKT31.91
259Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT31.91
260Congenital pulmonary airway malformationEnrichmentKRAS1.91
261Rare venous malformationEnrichmentPIK3CA1.91
262Diaphragmatic eventrationEnrichmentPIK3CA1.91
263Infantile lad-like disease due to rac2 deficiencyEnrichmentRAC21.91
264Reticular dysgenesis-like severe combined immunodeficiencyEnrichmentRAC21.91
265Nocarh syndromeEnrichmentCDC421.91
266Autosomal recessive severe congenital neutropenia due to cxcr2 deficiencyEnrichmentCXCR21.91
267Pik3ca-related overgrowth spectrumEnrichmentPIK3CA1.91
268Syringocystadenoma papilliferumEnrichmentBRAF1.91
269Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK1.91
270Rare combined vascular malformationEnrichmentPIK3CA1.91
271GangliogliomaEnrichmentBRAF1.91
272Cavernous lymphangiomaEnrichmentPIK3CA1.91
273Pik3ca-related overgrowth syndromeEnrichmentPIK3CA1.91
274Nongerminomatous germ cell tumorEnrichmentBRAF1.91
275Phace syndromeEnrichmentBRAF1.91
276Phakomatosis pigmentokeratoticaEnrichmentHRAS1.91
277Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC11.91
278Classic hairy cell leukemiaEnrichmentBRAF1.91
279Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA1.91
280Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT31.91
281Eccrine angiomatous hamartomaEnrichmentPIK3CA1.91
282Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndromeEnrichmentRAC21.91
283Macrodactyly of toeEnrichmentPIK3CA1.91
284Neurocutaneous melanocytosisEnrichmentNRAS1.91
285Akt2-related familial partial lipodystrophyEnrichmentAKT21.91
286Leukemia, acute myeloidEnrichmentJAK2, KRAS, NRAS1.90
287Lynch syndromeEnrichmentKRAS, PIK3CA1.86
288Osteopetrosis and infantile neuroaxonal dystrophyEnrichmentPLA2G61.84
289Fleck retina, familial benignEnrichmentPLA2G51.84
290Noonan syndrome 11EnrichmentMRAS1.84
291Neurodegeneration with brain iron accumulation 2aEnrichmentPLA2G61.84
292Parkinson disease 14, autosomal recessiveEnrichmentPLA2G61.84
293Neurodegeneration with brain iron accumulation 2bEnrichmentPLA2G61.84
294Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorderEnrichmentPLA2G4A1.84
295Platelet-activating factor acetylhydrolase deficiencyEnrichmentPLA2G71.84
296Gastrointestinal ulceration, recurrent, with dysfunctional plateletsEnrichmentPLA2G4A1.84
297Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA1.84
298Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA1.84
299Immunodeficiency 129EnrichmentRHOH1.84
300T-cell immunodeficiency with epidermodysplasia verruciformisEnrichmentRHOH1.84
301Cryptogenic multifocal ulcerous stenosing enteritisEnrichmentPLA2G4A1.84
302Familial benign flecked retinaEnrichmentPLA2G51.84
303Scoliosis, isolated 1EnrichmentMAPK71.80
304Amelogenesis imperfecta, type igEnrichmentPRKAR1A1.80
305Pituitary adenoma 4, acth-secretingEnrichmentGNAI21.80
306Thumb deformityEnrichmentCREBBP1.80
307Spinal and bulbar muscular atrophy, x-linked 1EnrichmentAR1.80
308Spinocerebellar ataxia 17EnrichmentTBP1.80
309Bleeding disorder, platelet-type, 19EnrichmentPRKACG1.80
310Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.80
311Loeys-dietz syndrome 3EnrichmentSMAD31.80
312Marbach-schaaf neurodevelopmental syndromeEnrichmentPRKAR1B1.80
313Androgen insensitivity syndromeEnrichmentAR1.80
314Menke-hennekam syndrome 2EnrichmentEP3001.80
315Usher syndrome, type ivEnrichmentPRKAR1A1.80
316Hypospadias 1, x-linkedEnrichmentAR1.80
317Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP1.80
318AcrodysostosisEnrichmentPRKAR1A1.80
319Ciliary dyskinesia, primary, 18EnrichmentPRKAR1B1.80
320HypopituitarismEnrichmentGNAI21.80
321Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPRKAR1A1.80
322Posterior hypospadiasEnrichmentAR1.80
323Common variable immunodeficiency 12EnrichmentNFKB11.80
324Hereditary breast carcinomaEnrichmentAKT1, KRAS, PIK3CA1.79
325Mccune-albright syndromeEnrichmentGNAS1.77
326Van der woude syndrome 1EnrichmentCACNA1E1.77
327Immunodeficiency 98 with autoinflammation, x-linkedEnrichmentFASLG1.77
328Hepatitis c virusEnrichmentCCR51.77
329Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS1.77
330Thyrotoxic periodic paralysisEnrichmentCACNA1S1.77
331Vogt-koyanagi-harada diseaseEnrichmentFAS1.77
332Hereditary episodic ataxiaEnrichmentCACNA1A1.77
333DystoniaEnrichmentGNAL, GNB11.76
334Eye diseaseEnrichmentCACNA1F, CACNA2D41.76
335Developmental and epileptic encephalopathyEnrichmentCACNA1E, CACNA2D21.74
336Arteriovenous malformations of the brainEnrichmentBRAF, KRAS1.66
337Diffuse large b-cell lymphomaEnrichmentBRAF, STAT31.66
338Migraine, familial hemiplegic, 1EnrichmentCACNA1A1.64
339Spinocerebellar ataxia 6EnrichmentCACNA1A1.64
340Spastic paraplegia 17, autosomal dominantEnrichmentGNG31.64
341Pseudohypoparathyroidism, type ibEnrichmentGNAS1.64
342Aland island eye diseaseEnrichmentCACNA1F1.64
343Developmental and epileptic encephalopathy 2EnrichmentCACNA1A1.64
344Lipodystrophy, congenital generalized, type 2EnrichmentGNG31.64
345Ventricular fibrillation, paroxysmal familial, 1EnrichmentCACNA1C1.64
346Developmental and epileptic encephalopathy 42EnrichmentCACNA1A1.64
347Congenital generalized lipodystrophyEnrichmentFOS1.64
348Cerebellar atrophy with seizures and variable developmental delayEnrichmentCACNA2D21.64
349Developmental and epileptic encephalopathy 52EnrichmentCACNA1A1.64
350Hereditary ataxiaEnrichmentPRKCG1.64
351Malignant hyperthermiaEnrichmentCACNA1S1.64
352Episodic ataxiaEnrichmentCACNA1A1.64
353Familial or sporadic hemiplegic migraineEnrichmentCACNA1A1.64
354Familial sick sinus syndromeEnrichmentGNB21.64
355Thrombocythemia 1EnrichmentCALR1.62
35646,xx sex reversal 1EnrichmentSRY1.62
357Tethered spinal cord syndromeEnrichmentCREBBP1.62
358Intraocular pressure quantitative trait locusEnrichmentCREBBP1.62
359Fibromatosis, gingival, 1EnrichmentSOS11.62
360Costello syndromeEnrichmentHRAS1.62
361Granulomatous disease, chronic, autosomal recessive, 1EnrichmentNCF11.62
362Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessiveEnrichmentSTAT5B1.62
363Neutropenia, severe congenital, x-linkedEnrichmentWAS1.62
364Wiskott-aldrich syndromeEnrichmentWAS1.62
365Immunodeficiency 33EnrichmentIKBKG1.62
366Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R51.62
367Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA1.62
368Keratosis, seborrheicEnrichmentPIK3CA1.62
369Encephalocraniocutaneous lipomatosisEnrichmentKRAS1.62
370Roifman-chitayat syndromeEnrichmentPIK3CD1.62
371Lethal congenital contracture syndrome 8EnrichmentADCY61.62
372Noonan syndrome 8EnrichmentPIK3CA1.62
373Thrombocythemia 3EnrichmentJAK21.62
374Oguchi disease 2EnrichmentGRK11.62
375Immunodeficiency 31cEnrichmentSTAT11.62
376Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.62
377Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA1.62
378Rela fusion-positive ependymomaEnrichmentRELA1.62
379Lymphoproliferative syndromeEnrichmentITK1.62
380Senior-loken syndrome 7EnrichmentAKT31.62
381Rosette-forming glioneuronal tumorEnrichmentPIK3CA1.62
382Body mass index quantitative trait locus 19EnrichmentADCY31.62
383Ocular melanomaEnrichmentPLCB41.62
384Bardet-biedl syndrome 16EnrichmentAKT31.62
385Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG1.62
386PolycythemiaEnrichmentJAK21.62
387Hypereosinophilic syndromeEnrichmentJAK21.62
388Oguchi diseaseEnrichmentGRK11.62
389Laron syndrome with immunodeficiencyEnrichmentSTAT5B1.62
390Wooly hair nevusEnrichmentHRAS1.62
391Capillary malformations, congenitalEnrichmentGNA111.55
392Episodic ataxia, type 2EnrichmentCACNA1A1.55
393Heart conduction diseaseEnrichmentCACNA1C1.55
394AmblyopiaEnrichmentCACNA1F1.55
395Cardiac arrestEnrichmentCACNA2D11.55
396Histiocytoid hemangiomaEnrichmentFOS1.55
397Congenital short qt syndromeEnrichmentCACNA2D11.55
398Noonan syndrome 12EnrichmentRRAS21.54
399Infantile osteopetrosis with neuroaxonal dysplasiaEnrichmentPLA2G61.54
400Myeloma, multipleEnrichmentBRAF, KRAS, PIK3R21.51
401Budd-chiari syndromeEnrichmentCALR1.50
402Carney complex variantEnrichmentPRKAR1A1.50
403Arrhythmogenic right ventricular dysplasia, familial, 10EnrichmentPRKAR1A1.50
404Achromatopsia 4EnrichmentGNAI31.50
405Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalitiesEnrichmentPOLR2A1.50
406Mantle cell lymphomaEnrichmentCCND11.50
407Aortic aneurysmEnrichmentSMAD31.50
408Hypokalemic periodic paralysis, type 1EnrichmentCACNA1S1.47
409Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM11.47
410Childhood absence epilepsyEnrichmentCACNA1H1.47
411Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiencyEnrichmentJAK31.44
412Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentSTAT31.44
413Ataxia-telangiectasiaEnrichmentBRAF1.44
414Polycythemia veraEnrichmentJAK21.44
415Pompe disease, infantile-onsetEnrichmentPIK3CA1.44
416Granulomatous disease, chronic, autosomal recessive, 2EnrichmentNCF11.44
417Nuchal bleb, familialEnrichmentSOS11.44
418Nasopharyngeal carcinomaEnrichmentNFKBIA1.44
419Hyper ige syndromeEnrichmentSTAT31.44
420Immunodeficiency 44EnrichmentSTAT21.44
421SpermatocytomaEnrichmentHRAS1.44
422Hypomyelination neuropathy-arthrogryposis syndromeEnrichmentADCY61.44
423KeratoacanthomaEnrichmentPIK3CA1.44
424Spastic ataxiaEnrichmentCACNA1G, CACNB41.43
425Von hippel-lindau syndromeEnrichmentCCND11.40
426Rubinstein-taybi syndrome 2EnrichmentEP3001.40
427Nonsyndromic 46,xx testicular disorders/differences of sex developmentEnrichmentSRY1.40
428Brugada syndrome 1EnrichmentCACNA2D11.40
429BrachydactylyEnrichmentGNAS1.40
430Oligoarticular juvenile idiopathic arthritisEnrichmentCD2471.40
431Rheumatoid factor-negative juvenile idiopathic arthritisEnrichmentCD2471.40
432Late-onset retinal degenerationEnrichmentPLA2G51.37
433Spastic paraplegia 4, autosomal dominantEnrichmentGNAS1.35
434Alternating hemiplegia of childhoodEnrichmentCACNA1A1.35
435Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM11.35
436HypothyroidismEnrichmentGNB11.35
437Adrenocortical carcinomaEnrichmentPRKAR1A1.33
438HypertrichosisEnrichmentCREBBP1.33
43946,xy disorder of sex developmentEnrichmentSRY1.33
440Chorea, benign hereditaryEnrichmentADCY51.32
441Erythrocytosis, familial, 1EnrichmentJAK21.32
442Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS1.32
443Granulomatous disease, chronic, x-linkedEnrichmentNCF11.32
444Thyroid cancer, nonmedullary, 1EnrichmentBRAF1.32
445Lung sarcomatoid carcinomaEnrichmentKRAS1.32
446Cerebrovascular diseaseEnrichmentPIK3CA1.32
447CraniopharyngiomaEnrichmentBRAF1.32
448Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCDC421.32
449Pilocytic astrocytomaEnrichmentKRAS1.32
450Newborn respiratory distress syndromeEnrichmentBRAF1.32
451Epidermolytic nevusEnrichmentHRAS1.32
452Familial cerebral cavernous malformationsEnrichmentPIK3CA1.32
453Adenosine deaminase deficiencyEnrichmentJAK31.32
454Gingival fibromatosisEnrichmentSOS11.32
455Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS21.32
456Inflammatory bowel disease 1EnrichmentPRKCQ1.30
457Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentCACNA1C1.30
458Congenital nervous system abnormalityEnrichmentCACNA1A, CREBBP, GNB51.27
459Nervous system diseaseEnrichmentCACNA1A, CREBBP, GNB51.27
460Non-immune hydrops fetalisEnrichmentHRAS, KRAS1.26
461Essential thrombocythemiaEnrichmentCALR1.26
462Common variable immunodeficiencyEnrichmentNFKB11.26
463Stroke, ischemicEnrichmentPRKCH1.25
464Developmental and epileptic encephalopathy 12EnrichmentPLCB11.25
465Cone-rod dystrophy 2EnrichmentCACNA1F, CACNA2D41.23
466Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG1.23
467Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negativeEnrichmentJAK31.23
468Myeloproliferative neoplasmEnrichmentJAK21.23
469Diffuse cutaneous systemic sclerosisEnrichmentCCR61.23
470Migraine with or without aura 1EnrichmentCACNA1A1.21
471Epilepsy, myoclonic juvenileEnrichmentCACNB41.21
472Epilepsy, idiopathic generalizedEnrichmentCACNA1H1.21
473Leukemia, acute lymphoblasticEnrichmentGNB11.21
474Myelodysplastic syndromeEnrichmentGNB11.21
475Cardiac conduction defectEnrichmentCACNA1C1.17
476Charge syndromeEnrichmentEP3001.15
477Loeys-dietz syndromeEnrichmentSMAD31.15
478Familial thoracic aortic aneurysm and dissectionEnrichmentSMAD31.15
479TrichothiodystrophyEnrichmentGTF2E21.15
480Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.15
481Cowden syndrome 1EnrichmentPIK3CA1.15
482Hemihyperplasia, isolatedEnrichmentPIK3CA1.15
483Wilms tumor 5EnrichmentBRAF1.15
484Chronic mucocutaneous candidiasisEnrichmentSTAT11.15
485Limited sclerodermaEnrichmentCCR61.15
486Chromosome 1p36 deletion syndromeEnrichmentPRKCZ1.14
487MicrocephalyEnrichmentEP300, GNB1, MAPK11.12
488Leukemia, chronic lymphocyticEnrichmentCCND11.11
489Ciliary dyskinesia, primary, 3EnrichmentNFKB11.11
490MegacolonEnrichmentAKT31.09
491Overgrowth syndromeEnrichmentPIK3R11.09
492MyopiaEnrichmentCACNA1F1.08
493Specific learning disabilityEnrichmentMAPK11.07
494Lymphoma, non-hodgkin, familialEnrichmentBRAF1.03
495Permanent neonatal diabetes mellitusEnrichmentSTAT31.03
496Hypertension, essentialEnrichmentGNB31.03
497Cleft palate, isolatedEnrichmentGNB11.03
498Sudden infant death syndromeEnrichmentCALM21.03
499Gastric cancerEnrichmentKRAS, PIK3CA1.02
500Behcet syndromeEnrichmentFAS0.98
501Congenital myopathyEnrichmentCACNA1S0.98
502Coronary heart disease 5EnrichmentIKBKG0.98
503Leukemia, acute lymphoblastic 3EnrichmentJAK20.98
504Adult hepatocellular carcinomaEnrichmentPIK3CA0.98
505Chronic granulomatous diseaseEnrichmentNCF10.98
506Ventricular septal defectEnrichmentBRAF0.98
507OsteoporosisEnrichmentSRC0.97
508Aortic aneurysm, familial thoracic 1EnrichmentSMAD30.97
509Heart diseaseEnrichmentCREBBP0.97
51046,xy partial gonadal dysgenesisEnrichmentSRY0.97
511Polydactyly, postaxial, type a1EnrichmentEP3000.94
512Corpus callosum, agenesis ofEnrichmentCREBBP0.94
513Isolated corpus callosum agenesisEnrichmentCREBBP0.94
514Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP0.94
515Centronuclear myopathyEnrichmentCACNA1S0.94
516PolymicrogyriaEnrichmentAKT30.94
517MelanomaEnrichmentBRAF0.94
518Attention deficit-hyperactivity disorderEnrichmentGNB50.92
519Developmental and epileptic encephalopathy 14EnrichmentPLCB10.91
520Ovarian cancerEnrichmentAKT1, KRAS, PIK3CA0.90
521AsthmaEnrichmentCCL110.90
522Cardiomyopathy, familial hypertrophic, 1EnrichmentCACNA1C0.89
523Cone dystrophyEnrichmentCACNA2D40.89
524Neurodegeneration with brain iron accumulationEnrichmentPLA2G60.87
525Familial colorectal cancerEnrichmentPLA2G2A0.87
526Heart, malformation ofEnrichmentMAPK10.87
527Auditory neuropathyEnrichmentCACNA1A0.86
528Esophageal atresia/tracheoesophageal fistulaEnrichmentPOLR2B0.85
529Ehlers-danlos syndromeEnrichmentSMAD30.85
530Parkinson's diseaseEnrichmentTBP0.85
531Hereditary breast ovarian cancer syndromeEnrichmentBCAR1, KRAS0.84
532Aortic valve disease 1EnrichmentSOS10.83
533Neural tube defectsEnrichmentPARD30.83
534Protein-deficiency anemiaEnrichmentNRAS0.83
535Complex neurodevelopmental disorderEnrichmentCACNA1C, GNB20.80
536Wilms tumor 1EnrichmentBRAF0.78
537Parkinson disease, late-onsetEnrichmentTBP0.75
538ScoliosisEnrichmentCREBBP0.75
539RhabdomyosarcomaEnrichmentHRAS0.75
540GliosarcomaEnrichmentNFKBIA0.75
541Melanoma, cutaneous malignant 1EnrichmentBRAF0.73
542Dandy-walker syndromeEnrichmentBRAF0.73
543Giant cell glioblastomaEnrichmentNFKBIA0.73
544Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentPLA2G60.68
545Prostate cancerEnrichmentAR0.68
546Williams-beuren syndromeEnrichmentNCF10.66
547Optic atrophy plus syndromeEnrichmentCACNA1F0.65
548Endometrial cancerEnrichmentPIK3CA0.64
549Connective tissue diseaseEnrichmentSMAD30.64
550Hepatocellular carcinomaEnrichmentPIK3CA0.63
551Male infertilityEnrichmentAR0.62
552MalariaEnrichmentIKBKG0.61
553Body mass index quantitative trait locus 11EnrichmentGNAS0.60
554Dilated cardiomyopathyEnrichmentBRAF, RAF10.59
555Pancreatic cancerEnrichmentKRAS0.58
556Jeune thoracic dystrophyEnrichmentGRK20.58
557Hydrops fetalis, nonimmuneEnrichmentHRAS0.56
558Asphyxiating thoracic dystrophyEnrichmentGRK20.54
559Severe covid-19EnrichmentJAK30.52
560Familial thoracic aortic aneurysm and aortic dissectionEnrichmentSMAD30.52
561ThrombocytopeniaEnrichmentSRC0.49
562Short-rib thoracic dysplasia 1 with or without polydactylyEnrichmentGRK20.48
563Familial hypertrophic cardiomyopathyEnrichmentRAF10.48
564Retinitis pigmentosaEnrichmentCACNA1F, CACNA2D40.46
565Left ventricular noncompactionEnrichmentRAF10.46
566Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentAR0.44
567Autism spectrum disorderEnrichmentGNB1, MAP2K10.42
568Type 2 diabetes mellitusEnrichmentAKT20.40
569AutismEnrichmentCREBBP0.36
570Benign epilepsy with centrotemporal spikesEnrichmentPLCB10.35
571Primary ciliary dyskinesiaEnrichmentPRKAR1B0.34
572Centralopathic epilepsyEnrichmentPLCB10.33
573HypertelorismEnrichmentPIK3CA0.33
574West syndromeEnrichmentPLCB10.33
575Familial isolated dilated cardiomyopathyEnrichmentRAF10.32
576Hereditary retinal dystrophyEnrichmentCACNA1F, CACNA2D40.30
577Fundus dystrophyEnrichmentCACNA1F, CACNA2D40.30
578Primary ovarian insufficiencyEnrichmentJAK20.29
579Inherited cancer-predisposing syndromeEnrichmentPRKAR1A0.18
580Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentADCY10.18

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