Immune response CCR3 signaling in eosinophils

No Pathway Network information available for Immune response CCR3 signaling in eosinophils

Pathways in the Immune response CCR3 signaling in eosinophils SuperPath

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

Disorders associated with Immune response CCR3 signaling in eosinophils SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Chronic granulomatous diseaseEnrichmentCYBA, CYBB, NCF1, NCF26.15
2Noonan syndrome 1EnrichmentHRAS, MAP2K1, MAP2K2, PPP1CB, RAF15.83
3RasopathyEnrichmentHRAS, MAP2K1, MAP2K2, PPP1CB, RAF15.55
4Noonan syndrome and noonan-related syndromeEnrichmentHRAS, MAP2K1, MAP2K2, RAF15.13
5Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM34.44
6Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG14.27
7Cardiomyopathy, familial hypertrophic, 1EnrichmentMYH6, MYH7, MYLK2, RAF14.27
8Familial hypertrophic cardiomyopathyEnrichmentACTN2, MYH7, MYL2, MYL34.02
9Long qt syndrome 1EnrichmentCALM1, CALM2, CALM3, ITPR33.87
10Granulomatous disease, chronic, autosomal recessive, 2EnrichmentNCF1, NCF23.64
11Hypertrophic cardiomyopathyEnrichmentACTN2, MYH7, MYL2, MYL33.56
12Megacystis-microcolon-intestinal hypoperistalsis syndrome 1EnrichmentMYH11, MYLK3.50
13Familial sick sinus syndromeEnrichmentGNB2, MYH63.50
14Cardiofaciocutaneous syndrome 1EnrichmentMAP2K1, MAP2K23.34
15Granulomatous disease, chronic, x-linkedEnrichmentCYBB, NCF13.34
16Cardiofaciocutaneous syndromeEnrichmentMAP2K1, MAP2K23.34
17Visceral myopathy 1EnrichmentMYH11, MYLK3.28
18MicrocephalyEnrichmentACTB, ACTG1, DIAPH1, GNAO1, GNB1, MAPK13.11
19Noonan syndrome 3EnrichmentHRAS, RAF12.80
20Familial thoracic aortic aneurysm and dissectionEnrichmentMYH11, MYLK2.73
21Melanocytic nevus syndrome, congenitalEnrichmentHRAS, RAF12.68
22Long qt syndromeEnrichmentCALM1, CALM2, MYH62.60
23Cardiomyopathy, familial hypertrophic, 4EnrichmentMYH7, NCF12.57
24Arteriovenous malformationEnrichmentHRAS, MAP2K12.57
25Dilated cardiomyopathyEnrichmentACTN2, MYH6, MYH7, MYL22.54
26Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K12.48
27Lung non-small cell carcinomaEnrichmentHRAS, MAP2K12.39
28Aortic aneurysm, familial thoracic 1EnrichmentMYH11, MYLK2.34
29Congenital myopathy 4a, autosomal dominantEnrichmentMYH7, MYL22.28
30Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG1, MYH14, MYH92.18
31Cardiomyopathy, dilated, 1eEnrichmentMYH7, MYL22.17
32Familial isolated dilated cardiomyopathyEnrichmentACTN2, MYH6, MYH72.16
33Proteus syndromeEnrichmentAKT12.13
34Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT22.13
35Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1aEnrichmentMYH32.13
36Baraitser-winter syndrome 1EnrichmentACTB2.13
37Focal segmental glomerulosclerosis 1EnrichmentACTN42.13
38Deafness, autosomal dominant 17EnrichmentMYH92.13
39Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosisEnrichmentRAC22.13
40Cardiomyopathy, familial hypertrophic, 8EnrichmentMYL32.13
41Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompactionEnrichmentACTN22.13
42Cardiac valvular dysplasia 1EnrichmentPLD12.13
43Cardiomyopathy, dilated, 1eeEnrichmentMYH62.13
44Sick sinus syndrome 3EnrichmentMYH62.13
45Neurodevelopmental disorder with involuntary movementsEnrichmentGNAO12.13
46Ataxia-oculomotor apraxia 3EnrichmentPIK3R52.13
47Ventricular tachycardia, familialEnrichmentGNAI22.13
48Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB22.13
49Noonan syndrome 13EnrichmentMAPK12.13
50Deafness, autosomal dominant 4aEnrichmentMYH142.13
51Congenital myopathy 8EnrichmentACTN22.13
52Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK12.13
53Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB2.13
54Immunodeficiency 71 with inflammatory disease and congenital thrombocytopeniaEnrichmentARPC1B2.13
55Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaEnrichmentRAC22.13
56Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesEnrichmentGNAI12.13
57Atrial fibrillation, familial, 18EnrichmentMYL42.13
58Nemaline myopathy 7EnrichmentCFL22.13
59Developmental and epileptic encephalopathy 17EnrichmentGNAO12.13
60Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT32.13
61Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB52.13
62Actn3 deficiencyEnrichmentACTN32.13
63Becker nevus syndromeEnrichmentACTB2.13
64Dystonia-deafness syndrome 1EnrichmentACTB2.13
65Cardiomyopathy, familial hypertrophic, 14EnrichmentMYH62.13
66Cowden syndrome 6EnrichmentAKT12.13
67Bleeding disorder, platelet-type, 15EnrichmentACTN12.13
68Peripheral neuropathy, myopathy, hoarseness, and hearing lossEnrichmentMYH142.13
69Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB42.13
70Immunodeficiency 97 with autoinflammationEnrichmentPIK3CG2.13
71Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB12.13
72Noonan syndrome-like disorder with loose anagen hair 2EnrichmentPPP1CB2.13
73Sick sinus syndrome 4EnrichmentGNB22.13
74Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB2.13
75Myopathy, distal, 6, adult-onset, autosomal dominantEnrichmentACTN22.13
76Congenital myopathy 14EnrichmentMYL12.13
77Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopeniaEnrichmentRAC22.13
78Whim syndrome 2EnrichmentCXCR22.13
79Baraitser-winter syndromeEnrichmentACTB2.13
80Capillary hemangiomaEnrichmentAKT32.13
81Aquagenic palmoplantar keratodermaEnrichmentCFTR2.13
82Autosomal dominant nonsyndromic hearing loss 17EnrichmentMYH92.13
83Infantile lad-like disease due to rac2 deficiencyEnrichmentRAC22.13
84Congenital smooth muscle hamartomaEnrichmentACTB2.13
85Capillary leak syndromeEnrichmentTLN12.13
86Reticular dysgenesis-like severe combined immunodeficiencyEnrichmentRAC22.13
87Autosomal recessive severe congenital neutropenia due to cxcr2 deficiencyEnrichmentCXCR22.13
88Developmental malformations-deafness-dystonia syndromeEnrichmentACTB2.13
89Gnao1-related disorderEnrichmentGNAO12.13
90Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC12.13
91Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndromeEnrichmentRAC22.13
92Akt2-related familial partial lipodystrophyEnrichmentAKT22.13
93Heart, malformation ofEnrichmentMAPK1, MYH62.12
94ThrombocytopeniaEnrichmentMYH9, SRC, WAS2.06
95Anhidrosis, isolated, with normal sweat glandsEnrichmentITPR22.05
96Granulomatous disease, chronic, autosomal recessive, 4EnrichmentCYBA2.05
97Thrombocytopenia 1EnrichmentWAS2.05
98Immunodeficiency 34EnrichmentCYBB2.05
99Noonan syndrome 5EnrichmentRAF12.05
100Melorheostosis, isolatedEnrichmentMAP2K12.05
101Deafness, autosomal dominant 1, with or without thrombocytopeniaEnrichmentDIAPH12.05
102Cardiomyopathy, dilated, 1nnEnrichmentRAF12.05
103Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.05
104Amyotrophic lateral sclerosis 18EnrichmentPFN12.05
10546,xy sex reversal 6EnrichmentMAP3K12.05
106Charcot-marie-tooth disease, demyelinating, type 1jEnrichmentITPR32.05
107MelorheostosisEnrichmentMAP2K12.05
108Leopard syndrome 2EnrichmentRAF12.05
109Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorderEnrichmentPLA2G4A2.05
110Cardiofaciocutaneous syndrome 4EnrichmentMAP2K22.05
111Long qt syndrome 16EnrichmentCALM32.05
112Thrombocytopenia 6EnrichmentSRC2.05
113Gastrointestinal ulceration, recurrent, with dysfunctional plateletsEnrichmentPLA2G4A2.05
114Was-related disordersEnrichmentWAS2.05
115Seizures, cortical blindness, and microcephaly syndromeEnrichmentDIAPH12.05
116Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA2.05
117Diaph1-related sensorineural hearing loss-thrombocytopenia syndromeEnrichmentDIAPH12.05
118Neurodevelopmental disorder with language delay and seizuresEnrichmentTIAM12.05
119Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA2.05
120TrigonitisEnrichmentRAF12.05
121Long qt syndrome 15EnrichmentCALM22.05
122Autoinflammation with pulmonary and cutaneous vasculitisEnrichmentHCK2.05
123Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathyEnrichmentITPR32.05
124Cryptogenic multifocal ulcerous stenosing enteritisEnrichmentPLA2G4A2.05
125Phakomatosis pigmentokeratoticaEnrichmentHRAS2.05
126Human immunodeficiency virus type 1EnrichmentCCL11, CCL51.97
127Aortic aneurysm, familial thoracic 4EnrichmentMYH111.83
128Leukocyte adhesion deficiency, type iEnrichmentITGB21.83
129Arthrogryposis, distal, type 2aEnrichmentMYH31.83
130Pituitary adenoma 4, acth-secretingEnrichmentGNAI21.83
131Spermatogenic failure, y-linked, 2EnrichmentCFTR1.83
132Ebstein anomalyEnrichmentMYH71.83
133Cataract 35EnrichmentMYH91.83
134Lethal congenital contracture syndrome 3EnrichmentPIP5K1C1.83
135Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R51.83
136Arthrogryposis, distal, type 7EnrichmentMYH81.83
137Deafness, autosomal dominant 20EnrichmentACTG11.83
138Leukocyte adhesion deficiency, type iiiEnrichmentITGB21.83
139Baraitser-winter syndrome 2EnrichmentACTG11.83
140Night blindness, congenital stationary, type 1hEnrichmentGNB31.83
141Arthrogryposis, distal, type 2b3EnrichmentMYH31.83
142Megacystis-microcolon-intestinal hypoperistalsis syndrome 2EnrichmentMYH111.83
143Genitourinary and/or brain malformation syndromeEnrichmentPPP1R12A1.83
144Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.83
145Developmental delay, language impairment, and ocular abnormalitiesEnrichmentARPC41.83
146Atrial septal defect 3EnrichmentMYH61.83
147Noonan syndrome-like disorder with loose anagen hairEnrichmentPPP1CB1.83
148Senior-loken syndrome 7EnrichmentAKT31.83
149Cardiomyopathy, familial hypertrophic, 10EnrichmentMYL21.83
150Intellectual developmental disorder, autosomal dominant 60, with seizuresEnrichmentPIP5K1A1.83
151Immunodeficiency 113 with autoimmunity and autoinflammationEnrichmentARPC51.83
152Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndromeEnrichmentMYH21.83
153Pseudosarcomatous fibromatosisEnrichmentMYH91.83
154Visceral myopathy 2EnrichmentMYH111.83
155Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathyEnrichmentMYL21.83
156Bardet-biedl syndrome 16EnrichmentAKT31.83
157HypopituitarismEnrichmentGNAI21.83
158Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB51.83
159Arthrogryposis, distal, type 1cEnrichmentMYL111.83
160Megacystis-microcolon-intestinal hypoperistalsis syndrome 4EnrichmentMYL91.83
161Immunodeficiency 133EnrichmentARPC51.83
162Childhood-onset autosomal recessive myopathy with external ophthalmoplegiaEnrichmentMYH21.83
163Cerebral visual impairmentEnrichmentGNB11.83
164Carney complex - trismus - pseudocamptodactyly syndromeEnrichmentMYH81.83
165Spinocerebellar ataxia 29EnrichmentITPR11.75
166Costello syndromeEnrichmentHRAS1.75
167Granulomatous disease, chronic, autosomal recessive, 1EnrichmentNCF11.75
168Neutropenia, severe congenital, x-linkedEnrichmentWAS1.75
169Wiskott-aldrich syndromeEnrichmentWAS1.75
170Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM11.75
171Long qt syndrome 14EnrichmentCALM11.75
172Tafro syndromeEnrichmentMAP2K21.75
173Wooly hair nevusEnrichmentHRAS1.75
174Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentMYH91.66
175Nuchal bleb, familialEnrichmentCFTR1.66
176Spondylocarpotarsal synostosis syndromeEnrichmentMYH31.66
177Aortic aneurysm, familial thoracic 7EnrichmentMYLK1.66
178Microcephaly, progressive, with seizures and cerebral and cerebellar atrophyEnrichmentMYH151.66
179Intrinsic cardiomyopathyEnrichmentACTN21.66
180Qualitative or quantitative defects of beta-myosin heavy chainEnrichmentMYH71.66
181Idiopathic camptocormiaEnrichmentMYH71.66
182Tricuspid valve insufficiencyEnrichmentMYH111.66
183Autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasiaEnrichmentCYBA1.58
184Gillespie syndromeEnrichmentITPR11.58
185Langerhans cell histiocytosisEnrichmentMAP2K11.58
186Large congenital melanocytic nevusEnrichmentHRAS1.58
187SpermatocytomaEnrichmentHRAS1.58
188Autoimmune polyendocrine syndrome type 1EnrichmentCYBA1.58
189Left ventricular noncompactionEnrichmentACTN2, MYH71.56
190Non-syndromic genetic deafnessEnrichmentACTG1, MYH141.54
191Myopathy, distal, 1EnrichmentMYH71.54
192Congenital myopathy 7b, myosin storage, autosomal recessiveEnrichmentMYH71.54
193Spastic paraplegia 17, autosomal dominantEnrichmentGNG31.54
194Auriculocondylar syndrome 1EnrichmentGNAI31.54
195Lipodystrophy, congenital generalized, type 2EnrichmentGNG31.54
196Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT31.54
197Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.54
198Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT31.54
199Carney complex variantEnrichmentMYH81.54
200Congenital myopathy 7a, myosin storage, autosomal dominantEnrichmentMYH71.54
201Congenital myopathy 6 with ophthalmoplegiaEnrichmentMYH21.54
202Aminoacylase 1 deficiencyEnrichmentACTB1.54
203Achromatopsia 4EnrichmentGNAI31.54
204Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1bEnrichmentMYH31.54
205Hyaline body myopathyEnrichmentMYH71.54
206Idiopathic bronchiectasisEnrichmentCFTR1.54
207Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentMYH111.54
208Cerebral malariaEnrichmentICAM11.54
209Mitral valve insufficiencyEnrichmentMYH111.54
210Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.54
211Rare genetic deafnessEnrichmentACTG1, DIAPH1, MYH91.48
212Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS1.46
213Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.46
214Spinocerebellar ataxia 15EnrichmentITPR11.46
215Noonan syndrome with multiple lentiginesEnrichmentRAF11.46
216Epidermolytic nevusEnrichmentHRAS1.46
217MyopathyEnrichmentMYH2, MYH71.46
218Arthrogryposis, distal, type 2b1EnrichmentMYH31.44
219Congenital myopathy 3 with rigid spineEnrichmentMYH71.44
220Deafness, autosomal recessive 63EnrichmentMYH91.44
221Congenital ptosisEnrichmentMYH101.44
222HemimegalencephalyEnrichmentAKT31.44
223Coloboma of choroid and retinaEnrichmentACTG11.44
224Distal arthrogryposisEnrichmentMYH3, MYL111.42
225Nonsyndromic hearing lossEnrichmentACTG1, MYH141.42
226Familial thoracic aortic aneurysm and aortic dissectionEnrichmentMYH11, MYLK1.38
227Hemangioma, capillary infantileEnrichmentMYH91.36
228Intestinal pseudo-obstructionEnrichmentMYH111.36
229Breast adenocarcinomaEnrichmentAKT11.36
230Inherited arrhythmogenic cardiomyopathyEnrichmentMYH71.36
231Typical nemaline myopathyEnrichmentCFL21.36
232MegacolonEnrichmentAKT31.30
233Familial isolated restrictive cardiomyopathyEnrichmentMYL21.30
234Hemihyperplasia, isolatedEnrichmentRHOA1.28
235Moyamoya disease 1EnrichmentDIAPH11.28
236Pendred syndromeEnrichmentDIAPH11.28
237Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM11.28
238Spinocerebellar ataxia, autosomal recessive 16EnrichmentITPR11.28
239Arthrogryposis, distal, type 1aEnrichmentMYH31.24
240HypothyroidismEnrichmentGNB11.24
241MyocarditisEnrichmentMYH71.24
242Choreatic diseaseEnrichmentGNAO11.24
243Hypoplastic left heart syndromeEnrichmentMYH61.24
244Nevus, epidermalEnrichmentHRAS1.22
245Thyroid cancer, nonmedullary, 2EnrichmentHRAS1.22
246MyelofibrosisEnrichmentSRC1.22
247Capillary malformation-arteriovenous malformation 1EnrichmentMAP2K11.22
248Pilomyxoid astrocytomaEnrichmentRAF11.22
249Follicular thyroid carcinomaEnrichmentHRAS1.22
250Bronchiectasis with or without elevated sweat chloride 1EnrichmentCFTR1.19
251Vas deferens, congenital bilateral aplasia ofEnrichmentCFTR1.19
252Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC11.19
253Cowden syndromeEnrichmentAKT11.19
254Familial isolated arrhythmogenic right ventricular dysplasiaEnrichmentMYH71.19
255Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM11.16
256Cat eye syndromeEnrichmentACTG11.15
257PolymicrogyriaEnrichmentAKT31.15
258Autosomal dominant macrothrombocytopeniaEnrichmentACTN11.15
259Leukemia, acute lymphoblasticEnrichmentGNB11.11
260Myelodysplastic syndromeEnrichmentGNB11.11
261Combined immunodeficiencyEnrichmentARPC1B1.11
262Movement diseaseEnrichmentGNAO11.11
263Combined t cell and b cell immunodeficiencyEnrichmentARPC1B1.11
264Specific learning disabilityEnrichmentMAPK11.11
265Combined t and b cell immunodeficiencyEnrichmentARPC1B1.11
266MeningiomaEnrichmentAKT11.07
267Restrictive cardiomyopathyEnrichmentMYH71.07
268Microphthalmia/coloboma 12EnrichmentMYH101.04
269Chromosome 1p36 deletion syndromeEnrichmentPRKCZ1.04
270AsthmaEnrichmentCCL111.03
27146,xy complete gonadal dysgenesisEnrichmentMAP3K11.03
272Complex neurodevelopmental disorderEnrichmentGNB2, MYH10, TIAM11.01
273Heart diseaseEnrichmentMYL21.01
274Hereditary chronic pancreatitisEnrichmentCFTR1.01
275Lip and oral cavity carcinomaEnrichmentHRAS0.99
276Congenital long qt syndromeEnrichmentITPR30.99
277Coloboma of maculaEnrichmentMYH100.98
278MyopiaEnrichmentMYH110.98
279Lynch syndromeEnrichmentCFTR0.98
280Rare genetic intellectual disabilityEnrichmentGNAO10.98
281Breast cancerEnrichmentAKT1, GNG30.98
282Wolff-parkinson-white syndromeEnrichmentMYH70.95
283Arrhythmogenic right ventricular cardiomyopathyEnrichmentACTN20.95
284HypertensionEnrichmentMYH90.95
285Multiple sclerosisEnrichmentITPR10.93
286OsteoporosisEnrichmentSRC0.93
28746,xy partial gonadal dysgenesisEnrichmentMAP3K10.93
288Hypertension, essentialEnrichmentGNB30.93
289Pancreatitis, hereditaryEnrichmentCFTR0.93
290Cleft palate, isolatedEnrichmentGNB10.93
291Dandy-walker syndromeEnrichmentPPP1CB0.93
292Neuromuscular diseaseEnrichmentMYH70.90
293Patent foramen ovaleEnrichmentMYH60.90
294Early infantile developmental and epileptic encephalopathyEnrichmentGNAO10.90
295Anterior segment dysgenesisEnrichmentITPR10.90
296Congenital myopathyEnrichmentMYH70.88
297RhabdomyosarcomaEnrichmentHRAS0.88
298Williams-beuren syndromeEnrichmentLIMK10.86
299Sudden infant death syndromeEnrichmentCALM20.85
300LissencephalyEnrichmentACTG10.84
301Centronuclear myopathyEnrichmentCFL20.84
302Attention deficit-hyperactivity disorderEnrichmentGNB50.82
303MalariaEnrichmentICAM10.81
304Congenital stationary night blindnessEnrichmentGNB30.81
305Familial atrial fibrillationEnrichmentMYL40.79
306Developmental and epileptic encephalopathy 1EnrichmentGNAO10.77
307StrabismusEnrichmentGNB10.74
308Congenital nervous system abnormalityEnrichmentGNAO1, GNB50.74
309Nervous system diseaseEnrichmentGNAO1, GNB50.74
310Hydrops fetalis, nonimmuneEnrichmentHRAS0.69
311Auditory neuropathyEnrichmentDIAPH10.69
312Cystic fibrosisEnrichmentCFTR0.68
313Male infertilityEnrichmentCFTR0.65
314CakutEnrichmentACTG10.65
315Genetic steroid-resistant nephrotic syndromeEnrichmentACTN40.65
316Bladder cancerEnrichmentHRAS0.64
317Differentiated thyroid carcinomaEnrichmentHRAS0.64
318DystoniaEnrichmentGNB10.64
319Developmental and epileptic encephalopathyEnrichmentGNAO10.63
320Non-immune hydrops fetalisEnrichmentHRAS0.62
321Autism spectrum disorderEnrichmentGNB1, MAP2K10.60
322Cerebral palsyEnrichmentGNB10.60
323Type 2 diabetes mellitusEnrichmentAKT20.57
324West syndromeEnrichmentGNAO10.56
325Hereditary breast carcinomaEnrichmentAKT10.56
326EpilepsyEnrichmentDIAPH10.52
327Body mass index quantitative trait locus 11EnrichmentMYH90.51
328Autosomal dominant non-syndromic intellectual disabilityEnrichmentGNB10.51
329HypertelorismEnrichmentMYH100.50
330Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentCFTR0.47
331Undetermined early-onset epileptic encephalopathyEnrichmentLIMK10.47
332Deafness, autosomal recessiveEnrichmentMYH90.43
333Spastic ataxiaEnrichmentITPR10.42
334Autosomal recessive nonsyndromic deafnessEnrichmentMYH90.42
335Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentPFN10.39
336Colorectal cancerEnrichmentAKT10.32
337Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentMYH90.32
338Ovarian cancerEnrichmentAKT10.28

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