RhoGDI Pathway

No Pathway Network information available for RhoGDI Pathway

Pathways in the RhoGDI Pathway SuperPath

#NameSourceGenes
1RhoGDI PathwayQIAGEN
2Fc-GammaR-Mediated Phagocytosis in MacrophagesQIAGEN

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

Disorders associated with RhoGDI Pathway SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG1, MYH14, MYH9, MYO1A, MYO1C, MYO6, MYO7A6.95
2Non-syndromic genetic deafnessEnrichmentACTG1, MYH14, MYO15A, MYO3A, MYO6, MYO7A6.60
3Nonsyndromic hearing lossEnrichmentACTG1, MYH14, MYO15A, MYO3A, MYO6, MYO7A6.18
4Lacrimoauriculodentodigital syndrome 1EnrichmentFGF10, FGFR2, FGFR35.99
5Hemangioma, capillary infantileEnrichmentFLT4, KDR, MYH94.70
6Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG14.25
7Pfeiffer syndromeEnrichmentFGFR1, FGFR23.99
8Jackson-weiss syndromeEnrichmentFGFR1, FGFR23.99
9Congenital myopathy 4a, autosomal dominantEnrichmentACTA1, MYH7, MYL23.75
10Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentMET, MYH9, MYO15A, MYO3A, MYO6, MYO7A3.54
11Hypertrophic cardiomyopathyEnrichmentMYH7, MYH7B, MYL2, MYL33.53
12Crouzon syndromeEnrichmentFGFR2, FGFR33.51
13Rare genetic deafnessEnrichmentACTG1, MYH9, MYO15A, MYO6, MYO7A3.50
14Megacystis-microcolon-intestinal hypoperistalsis syndrome 1EnrichmentACTG2, MYH113.48
15Dilated cardiomyopathyEnrichmentACTA1, MYH6, MYH7, MYL2, VCL3.47
16GliosarcomaEnrichmentEGFR, FGFR1, FGFR33.28
17Visceral myopathy 1EnrichmentACTG2, MYH113.26
18Congenital myopathy 3 with rigid spineEnrichmentACTA1, MYH73.26
19Saethre-chotzen syndromeEnrichmentFGFR2, FGFR33.22
20Giant cell glioblastomaEnrichmentEGFR, FGFR1, FGFR33.20
21Ear malformationEnrichmentMYO15A, MYO6, MYO7A3.13
22Cardiomyopathy, familial hypertrophic, 1EnrichmentMYH6, MYH7, MYH7B3.13
23Normosmic congenital hypogonadotropic hypogonadismEnrichmentFGF17, FGF8, FGFR13.12
24Intestinal pseudo-obstructionEnrichmentACTG2, MYH113.08
25Hemifacial hyperplasiaEnrichmentFGFR2, FGFR33.00
26HoloprosencephalyEnrichmentFGF8, FGFR13.00
27Holoprosencephaly 1EnrichmentFGF8, FGFR12.82
28Lung squamous cell carcinomaEnrichmentEGFR, FGFR32.82
29Kallmann syndromeEnrichmentFGF17, FGF8, FGFR12.80
30Familial hypertrophic cardiomyopathyEnrichmentMYH7, MYL2, MYL32.72
31Colorectal cancerEnrichmentFGFR2, FGFR3, MET, MYO1B, PIK3R12.72
32Nemaline myopathyEnrichmentACTA1, MYO18B2.62
33Arthrogryposis, distal, type 1aEnrichmentMET, MYH32.56
34Lymphoma, non-hodgkin, familialEnrichmentCASP10, PRF12.56
35MyopathyEnrichmentACTA1, MYH2, MYH72.48
36Distal arthrogryposisEnrichmentACTA1, MYH3, MYL112.42
37Sensorineural hearing lossEnrichmentMYO15A, MYO3A, MYO7A2.25
38Cardiomyopathy, dilated, 1eEnrichmentMYH7, MYL22.15
39Familial isolated dilated cardiomyopathyEnrichmentMYH6, MYH7, VCL2.13
40Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1aEnrichmentMYH32.12
41Baraitser-winter syndrome 1EnrichmentACTB2.12
42Deafness, autosomal recessive 2EnrichmentMYO7A2.12
43Deafness, autosomal dominant 17EnrichmentMYH92.12
44Deafness, autosomal dominant 48EnrichmentMYO1A2.12
45Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosisEnrichmentRAC22.12
46Cardiomyopathy, familial hypertrophic, 8EnrichmentMYL32.12
47Congenital myopathy 2a, typical, autosomal dominantEnrichmentACTA12.12
48Amyloidosis, finnish typeEnrichmentGSN2.12
49Deafness, autosomal dominant 22EnrichmentMYO62.12
50Nail disorder, nonsyndromic congenital, 3EnrichmentPLCD12.12
51Amyotrophic lateral sclerosis 18EnrichmentPFN12.12
52Myopathy, scapulohumeroperonealEnrichmentACTA12.12
53Cardiomyopathy, dilated, 1eeEnrichmentMYH62.12
54Sick sinus syndrome 3EnrichmentMYH62.12
55Griscelli syndrome, type 1EnrichmentMYO5A2.12
56Elejalde neuroectodermal melanolysosomal syndromeEnrichmentMYO5A2.12
57Ataxia-oculomotor apraxia 3EnrichmentPIK3R52.12
58Megacystis-microcolon-intestinal hypoperistalsis syndrome 5EnrichmentACTG22.12
59Spondylometaphyseal dysplasia with corneal dystrophyEnrichmentPLCB32.12
60Immunodeficiency 82 with systemic inflammationEnrichmentSYK2.12
61Deafness, autosomal dominant 4aEnrichmentMYH142.12
62Neurodevelopmental disorder with structural brain anomalies and dysmorphic faciesEnrichmentRAC32.12
63Short syndromeEnrichmentPIK3R12.12
64Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB2.12
65Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG12.12
66Deafness, autosomal recessive 37EnrichmentMYO62.12
67Auriculocondylar syndrome 2aEnrichmentPLCB42.12
68Diarrhea 15, congenitalEnrichmentMYO1A2.12
69Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaEnrichmentRAC22.12
70Atrial fibrillation, familial, 18EnrichmentMYL42.12
71Deafness, autosomal dominant 11EnrichmentMYO7A2.12
72Cardiomyopathy, dilated, 1wEnrichmentVCL2.12
73Deafness, autosomal recessive 30EnrichmentMYO3A2.12
74Becker nevus syndromeEnrichmentACTB2.12
75Celiac disease 4EnrichmentMYO9B2.12
76Dystonia-deafness syndrome 1EnrichmentACTB2.12
77Visceral neuropathy, familial, 3, autosomal dominantEnrichmentACTG22.12
78Cardiomyopathy, familial hypertrophic, 14EnrichmentMYH62.12
79Cardiomyopathy, familial hypertrophic, 15EnrichmentVCL2.12
80Congenital myopathy 2b, severe infantile, autosomal recessiveEnrichmentACTA12.12
81Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.12
82Autoinflammation, antibody deficiency, and immune dysregulationEnrichmentPLCG22.12
83Peripheral neuropathy, myopathy, hoarseness, and hearing lossEnrichmentMYH142.12
84Autosomal dominant familial visceral neuropathyEnrichmentACTG22.12
85Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.12
86Focal segmental glomerulosclerosis 6EnrichmentMYO1E2.12
87Familial cold autoinflammatory syndrome 3EnrichmentPLCG22.12
88Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA2.12
89Takenouchi-kosaki syndromeEnrichmentCDC422.12
90Congenital myopathy 2c, severe infantile, autosomal dominantEnrichmentACTA12.12
91Autoinflammatory disease, systemic, with vasculitisEnrichmentLYN2.12
92Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB2.12
93Deafness, autosomal dominant 90EnrichmentMYO3A2.12
94Myasthenic syndrome, congenital, 24, presynapticEnrichmentMYO9A2.12
95Congenital myopathy 14EnrichmentMYL12.12
96Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA2.12
97Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopeniaEnrichmentRAC22.12
98Immunodeficiency 129EnrichmentRHOH2.12
99Auriculocondylar syndrome 2bEnrichmentPLCB42.12
100Baraitser-winter syndromeEnrichmentACTB2.12
101Autoinflammation with pulmonary and cutaneous vasculitisEnrichmentHCK2.12
102Usher syndrome type 1bEnrichmentMYO7A2.12
103T-cell immunodeficiency with epidermodysplasia verruciformisEnrichmentRHOH2.12
104ColitisEnrichmentSYK2.12
105Klippel-feil syndromeEnrichmentMYO18B2.12
106Autosomal dominant nonsyndromic hearing loss 17EnrichmentMYH92.12
107Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndromeEnrichmentMYO62.12
108Neonatal alloimmune neutropeniaEnrichmentFCGR3B2.12
109Zebra body myopathyEnrichmentACTA12.12
110Infantile lad-like disease due to rac2 deficiencyEnrichmentRAC22.12
111Congenital smooth muscle hamartomaEnrichmentACTB2.12
112Reticular dysgenesis-like severe combined immunodeficiencyEnrichmentRAC22.12
113Nocarh syndromeEnrichmentCDC422.12
114Developmental malformations-deafness-dystonia syndromeEnrichmentACTB2.12
115Autosomal dominant nonsyndromic hearing loss 22EnrichmentMYO62.12
116Actin-accumulation myopathyEnrichmentACTA12.12
117Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC12.12
118Myopathic intestinal pseudoobstructionEnrichmentACTG22.12
119Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndromeEnrichmentRAC22.12
120Actg2 visceral myopathyEnrichmentACTG22.12
121Neuromuscular diseaseEnrichmentACTA1, MYH72.10
122Lung cancer susceptibility 3EnrichmentEGFR, FGF102.06
123Congenital myopathyEnrichmentACTA1, MYH72.06
124HypochondroplasiaEnrichmentFGFR31.99
125Beare-stevenson cutis gyrata syndromeEnrichmentFGFR21.99
126Osteoglophonic dysplasiaEnrichmentFGFR11.99
127Thanatophoric dysplasia, type iEnrichmentFGFR31.99
128Trigonocephaly 1EnrichmentFGFR11.99
129Spinocerebellar ataxia 27aEnrichmentFGF141.99
130Muenke syndromeEnrichmentFGFR31.99
131Intellectual developmental disorder, x-linked 30EnrichmentPAK31.99
132Developmental and epileptic encephalopathy 8EnrichmentARHGEF91.99
133Hemophagocytic lymphohistiocytosis, familial, 2EnrichmentPRF11.99
134Hypomagnesemia 4, renalEnrichmentEGF1.99
135Scaphocephaly, maxillary retrusion, and impaired intellectual developmentEnrichmentFGFR21.99
136Apert syndromeEnrichmentFGFR21.99
137Thanatophoric dysplasia, type iiEnrichmentFGFR31.99
138Nephrotic syndrome, type 8EnrichmentARHGDIA1.99
139Hypogonadotropic hypogonadism 20 with or without anosmiaEnrichmentFGF171.99
140Camptodactyly, tall stature, and hearing loss syndromeEnrichmentFGFR31.99
141Aplasia of lacrimal and salivary glandsEnrichmentFGF101.99
142Bent bone dysplasia syndrome 1EnrichmentFGFR21.99
143Immunodeficiency 62EnrichmentARHGEF11.99
144Neurodevelopmental disorder with midbrain and hindbrain malformationsEnrichmentARHGEF21.99
145Intellectual developmental disorder, x-linked 110EnrichmentFGF131.99
146Spinocerebellar ataxia 27b, late-onsetEnrichmentFGF141.99
147Knobloch syndrome 2EnrichmentPAK21.99
148Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK11.99
149Hereditary lymphedema idEnrichmentVEGFC1.99
150Osteofibrous dysplasiaEnrichmentMET1.99
151Intellectual developmental disorder, x-linked 46EnrichmentARHGEF61.99
152Developmental and epileptic encephalopathy 90EnrichmentFGF131.99
153Metacarpal 4-5 fusionEnrichmentFGF161.99
154Lymphatic malformation 4EnrichmentVEGFC1.99
155Lacrimoauriculodentodigital syndrome 3EnrichmentFGF101.99
156Familial isolated trichomegalyEnrichmentFGF51.99
157Slowed nerve conduction velocity, autosomal dominantEnrichmentARHGEF101.99
158Deafness, autosomal recessive 97EnrichmentMET1.99
159Microvascular complications of diabetes 1EnrichmentVEGFA1.99
160Crouzon syndrome with acanthosis nigricansEnrichmentFGFR31.99
161Autoimmune lymphoproliferative syndrome, type iiaEnrichmentCASP101.99
162Autism 9EnrichmentMET1.99
163Multiple synostoses syndrome 3EnrichmentFGF91.99
164Hypogonadotropic hypogonadism 6 with or without anosmiaEnrichmentFGF81.99
165Brain small vessel disease 5 with osteoporosisEnrichmentARHGEF151.99
166Achondroplasia, severe, with developmental delay and acanthosis nigricansEnrichmentFGFR31.99
167Tumoral calcinosis, hyperphosphatemic, familial, 2EnrichmentFGF231.99
168Hartsfield syndromeEnrichmentFGFR11.99
169Congenital heart defects, multiple types, 7EnrichmentFLT41.99
170Renal hypodysplasia/aplasia 2EnrichmentFGF201.99
171Developmental and epileptic encephalopathy 47EnrichmentFGF121.99
172Tufted angioma of skinEnrichmentKDR1.99
173Arthrogryposis, distal, type 11EnrichmentMET1.99
174Lacrimoauriculodentodigital syndrome 2EnrichmentFGFR31.99
175Short-rib thoracic dysplasia 22 without polydactylyEnrichmentFGF41.99
176Spinocerebellar ataxia type 27bEnrichmentFGF141.99
177Fgfr3-related chondrodysplasiaEnrichmentFGFR31.99
178Congenital primary lymphedema of gordonEnrichmentVEGFC1.99
179Camptodactyly-tall stature-scoliosis-hearing loss syndromeEnrichmentFGFR31.99
180Fatal post-viral neurodegenerative disorderEnrichmentPRF11.99
181Hartsfield-bixler-demyer syndromeEnrichmentFGFR11.99
182Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF1.99
183Non-syndromic unicoronal craniosynostosisEnrichmentFGFR21.99
184Interstitial lung disease specific to childhoodEnrichmentFGF101.99
185Microform holoprosencephalyEnrichmentFGF8, FGFR11.95
186Lobar holoprosencephalyEnrichmentFGF8, FGFR11.95
187Deafness, autosomal recessiveEnrichmentMYH9, MYO15A, MYO7A1.93
188Autosomal recessive nonsyndromic deafnessEnrichmentMYH9, MYO15A, MYO7A1.91
189Semilobar holoprosencephalyEnrichmentFGF8, FGFR11.85
190Aortic aneurysm, familial thoracic 4EnrichmentMYH111.82
191Arthrogryposis, distal, type 2aEnrichmentMYH31.82
192Ebstein anomalyEnrichmentMYH71.82
193Cataract 35EnrichmentMYH91.82
194Lethal congenital contracture syndrome 3EnrichmentPIP5K1C1.82
195Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R51.82
196Deafness, autosomal dominant 30EnrichmentMYO3A1.82
197Aortic aneurysm, familial thoracic 2EnrichmentACTA21.82
198Griscelli syndrome, type 3EnrichmentMYO5A1.82
199Arthrogryposis, distal, type 7EnrichmentMYH81.82
200Deafness, autosomal dominant 20EnrichmentACTG11.82
201Smooth muscle dysfunction syndromeEnrichmentACTA21.82
202Neutrophilia, hereditaryEnrichmentPIP4K2B1.82
203Aortic aneurysm, familial thoracic 6EnrichmentACTA21.82
204Baraitser-winter syndrome 2EnrichmentACTG11.82
205Moyamoya disease 5EnrichmentACTA21.82
206Spermatogenic failure 17EnrichmentPLCZ11.82
207Neutropenia, severe congenital, 7, autosomal recessiveEnrichmentPIP4K2B1.82
208Arthrogryposis, distal, type 2b3EnrichmentMYH31.82
209Megacystis-microcolon-intestinal hypoperistalsis syndrome 2EnrichmentMYH111.82
210Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.82
211Atrial septal defect 3EnrichmentMYH61.82
212Cardiomyopathy, familial hypertrophic, 10EnrichmentMYL21.82
213Severe congenital neutropenia 7EnrichmentPIP4K2B1.82
214Ocular melanomaEnrichmentPLCB41.82
215Intellectual developmental disorder, autosomal dominant 60, with seizuresEnrichmentPIP5K1A1.82
216Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndromeEnrichmentMYH21.82
217Pseudosarcomatous fibromatosisEnrichmentMYH91.82
218Immune system diseaseEnrichmentCDC421.82
219Visceral myopathy 2EnrichmentMYH111.82
220Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathyEnrichmentMYL21.82
221B-lymphoblastic leukemia/lymphoma with hyperdiploidyEnrichmentPIP4K2A1.82
222Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphismEnrichmentMYO18B1.82
223Arthrogryposis, distal, type 1cEnrichmentMYL111.82
224Megacystis-microcolon-intestinal hypoperistalsis syndrome 4EnrichmentMYL91.82
225Klippel-feil anomaly-myopathy-facial dysmorphism syndromeEnrichmentMYO18B1.82
226ArthritisEnrichmentSYK1.82
227Childhood-onset autosomal recessive myopathy with external ophthalmoplegiaEnrichmentMYH21.82
228Intestinal obstructionEnrichmentACTG21.82
229Carney complex - trismus - pseudocamptodactyly syndromeEnrichmentMYH81.82
230CraniosynostosisEnrichmentFGFR2, FGFR31.76
231Lymphatic malformation 1EnrichmentFLT41.69
232Otodental dysplasiaEnrichmentFGF31.69
233TrichomegalyEnrichmentFGF51.69
234Intracranial hypertension, idiopathicEnrichmentFLT41.69
235Pulmonary hypoplasia, primaryEnrichmentFGF101.69
236Cervical cancerEnrichmentFGFR31.69
237Aural atresia, congenitalEnrichmentFGFR21.69
238Keratosis, seborrheicEnrichmentFGFR31.69
239Deafness, congenital, with inner ear agenesis, microtia, and microdontiaEnrichmentFGF31.69
240Encephalocraniocutaneous lipomatosisEnrichmentFGFR11.69
241Duane retraction syndrome 2EnrichmentCHN11.69
242Angioma, tuftedEnrichmentKDR1.69
243Antley-bixler syndrome without genital anomalies or disordered steroidogenesisEnrichmentFGFR21.69
244Childhood hepatocellular carcinomaEnrichmentMET1.69
245Split hand-foot malformationEnrichmentFGFR21.69
246Rosette-forming glioneuronal tumorEnrichmentFGFR11.69
247Papillary renal cell carcinomaEnrichmentMET1.69
248Cervix carcinomaEnrichmentFGFR31.69
249Hereditary lymphedema iEnrichmentFLT41.69
250Interfrontal craniofaciosynostosisEnrichmentFGFR11.69
251Autosomal dominant nonsyndromic deafnessEnrichmentFGFR21.69
252Oculootodental syndromeEnrichmentFGF31.69
253Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentMYH91.65
254Klippel-feil syndrome 1, autosomal dominantEnrichmentMYO18B1.65
255Deafness, autosomal recessive 3EnrichmentMYO15A1.65
256Cardiomyopathy, dilated, 1c, with or without left ventricular noncompactionEnrichmentMYH7B1.65
257Spondylocarpotarsal synostosis syndromeEnrichmentMYH31.65
258Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3R11.65
259Nephrotic syndrome, type 3EnrichmentPLCE11.65
260Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.65
261Microcephaly, progressive, with seizures and cerebral and cerebellar atrophyEnrichmentMYH151.65
262Immunodeficiency 14EnrichmentPIK3R11.65
263Qualitative or quantitative defects of beta-myosin heavy chainEnrichmentMYH71.65
264Idiopathic camptocormiaEnrichmentMYH71.65
265Congenital diarrheaEnrichmentMYO1A1.65
266Tricuspid valve insufficiencyEnrichmentMYH111.65
267Genetic steroid-resistant nephrotic syndromeEnrichmentMYO1E, PLCE11.57
268Left ventricular noncompactionEnrichmentMYH7, MYH7B1.55
269Tetralogy of fallotEnrichmentFLT4, KDR1.55
270Myopathy, distal, 1EnrichmentMYH71.53
271Klippel-feil syndrome 2, autosomal recessiveEnrichmentMYO18B1.53
272Nemaline myopathy 2EnrichmentACTA11.53
273Congenital myopathy 7b, myosin storage, autosomal recessiveEnrichmentMYH71.53
274Autoimmune lymphoproliferative syndromeEnrichmentACTA21.53
275Auriculocondylar syndrome 1EnrichmentPLCB41.53
276Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3R21.53
277Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentPIK3R21.53
278Carney complex variantEnrichmentMYH81.53
279Congenital myopathy 7a, myosin storage, autosomal dominantEnrichmentMYH71.53
280Congenital myopathy 6 with ophthalmoplegiaEnrichmentMYH21.53
281Aminoacylase 1 deficiencyEnrichmentACTB1.53
282Developmental and epileptic encephalopathy 12EnrichmentPLCB11.53
283Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1bEnrichmentMYH31.53
284Hyaline body myopathyEnrichmentMYH71.53
285Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCDC421.53
286Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentMYH111.53
287Mitral valve insufficiencyEnrichmentMYH111.53
288Intermediate nemaline myopathyEnrichmentACTA11.53
289Familial sick sinus syndromeEnrichmentMYH61.53
290Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.53
291AchondroplasiaEnrichmentFGFR31.52
292Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR11.52
293Larsen syndromeEnrichmentFGFR31.52
294Tumoral calcinosis, hyperphosphatemic, familial, 1EnrichmentFGF231.52
295Hypophosphatemic rickets, autosomal dominantEnrichmentFGF231.52
296Chromosome 8p11 myeloproliferative syndromeEnrichmentFGFR11.52
297Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.52
298HamartomaEnrichmentFGFR31.52
299Testicular germ cell cancerEnrichmentFGFR31.52
300Duane retraction syndromeEnrichmentCHN11.52
301SpermatocytomaEnrichmentFGFR31.52
302Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.52
303Renal cell carcinomaEnrichmentMET1.52
304Testicular cancerEnrichmentFGFR31.52
305Systemic lupus erythematosusEnrichmentFCGR2A, FCGR3B1.46
306Bladder cancerEnrichmentEGFR, FGFR31.46
307Arthrogryposis, distal, type 2b1EnrichmentMYH31.43
308Deafness, autosomal recessive 9EnrichmentMYO15A1.43
309Deafness, autosomal recessive 63EnrichmentMYH91.43
310Congenital ptosisEnrichmentMYH101.43
311Otof-related hearing lossEnrichmentMYO15A1.43
312Coloboma of choroid and retinaEnrichmentACTG11.43
313Severe congenital nemaline myopathyEnrichmentACTA11.43
314Multiple synostoses syndromeEnrichmentFGF91.40
315Knobloch syndromeEnrichmentPAK21.40
316Non-syndromic bicoronal craniosynostosisEnrichmentFGFR31.40
317GliomaEnrichmentFGFR21.40
318Nephrotic syndromeEnrichmentMYO1E, PLCE11.38
319Lung cancerEnrichmentEGFR, MET1.38
320Familial thoracic aortic aneurysm and aortic dissectionEnrichmentACTA2, MYH111.36
321Melanoma, uvealEnrichmentPLCB41.35
322Hemihyperplasia, isolatedEnrichmentRHOA1.35
323Moyamoya disease 1EnrichmentACTA21.35
324Epidermolysis bullosa, junctional 5b, with pyloric atresiaEnrichmentMYO61.35
325Inherited arrhythmogenic cardiomyopathyEnrichmentMYH71.35
326Typical nemaline myopathyEnrichmentACTA11.35
327Moebius syndromeEnrichmentCHN11.30
328Martsolf syndrome 1EnrichmentARHGAP51.30
329Hemophagocytic lymphohistiocytosis, familial, 1EnrichmentPRF11.30
330Knobloch syndrome 1EnrichmentPAK21.30
331Mosaic variegated aneuploidy syndrome 1EnrichmentPAK61.30
332Robinow syndrome, autosomal dominant 2EnrichmentCHN11.30
333Pre-eclampsiaEnrichmentFLT11.30
334Primary hypereosinophilic syndromeEnrichmentFGFR11.30
335Idiopathic aplastic anemiaEnrichmentPRF11.30
336Meniere diseaseEnrichmentMYO7A1.29
337Childhood-onset nemaline myopathyEnrichmentACTA11.29
338Overgrowth syndromeEnrichmentPIK3R11.29
339Familial isolated restrictive cardiomyopathyEnrichmentMYL21.29
340MyocarditisEnrichmentMYH71.23
341Hypoplastic left heart syndromeEnrichmentMYH61.23
342Cowden syndrome 1EnrichmentEGFR1.23
343Split-hand/foot malformation 1EnrichmentFGFR21.23
344Testicular germ cell tumorEnrichmentFGFR31.23
34546,xy disorder of sex developmentEnrichmentFGFR31.23
346Cardiomyopathy, familial hypertrophic, 4EnrichmentMYH71.18
347Nephrotic syndrome, type 1EnrichmentPLCE11.18
348Developmental and epileptic encephalopathy 14EnrichmentPLCB11.18
349Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC11.18
350Familial isolated arrhythmogenic right ventricular dysplasiaEnrichmentMYH71.18
351Familial thoracic aortic aneurysm and dissectionEnrichmentMYH111.18
352Nevus, epidermalEnrichmentFGFR31.16
353Squamous cell carcinoma, head and neckEnrichmentEGFR1.16
354Renal cell carcinoma, papillary, 1EnrichmentMET1.16
355Pilomyxoid astrocytomaEnrichmentFGFR11.16
356Hypophosphatemic ricketsEnrichmentFGF231.16
357Gastric cancerEnrichmentCASP10, FGFR21.15
358Cat eye syndromeEnrichmentACTG11.14
359Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R11.14
360Lennox-gastaut syndromeEnrichmentMAPK101.10
361Mosaic variegated aneuploidy syndromeEnrichmentPAK61.10
362Immune deficiency diseaseEnrichmentSYK1.10
363Usher syndrome type 2EnrichmentMYO7A1.10
364Presynaptic congenital myasthenic syndromesEnrichmentMYO9A1.10
365Restrictive cardiomyopathyEnrichmentMYH71.06
366Orofacial cleft 1EnrichmentFGF101.06
367Adult hepatocellular carcinomaEnrichmentEGF1.06
368Hypogonadotropic hypogonadismEnrichmentFGFR11.06
369Renal agenesis, bilateralEnrichmentFGF201.06
370Microphthalmia/coloboma 12EnrichmentMYH101.03
371Meier-gorlin syndrome 1EnrichmentFGFR21.01
372Aplastic anemiaEnrichmentPRF11.01
373Primary bone dysplasiaEnrichmentFGFR31.01
374HypertelorismEnrichmentFGFR2, MYH101.01
375Aortic aneurysm, familial thoracic 1EnrichmentMYH111.00
376Heart diseaseEnrichmentMYL21.00
377OsteochondrodysplasiaEnrichmentFGFR30.97
378Lung non-small cell carcinomaEnrichmentEGFR0.97
379Coloboma of maculaEnrichmentMYH100.97
380Usher syndrome, type iEnrichmentMYO7A0.97
381MyopiaEnrichmentMYH110.97
382Myeloma, multipleEnrichmentFGFR3, PIK3R20.95
383Wolff-parkinson-white syndromeEnrichmentMYH70.94
384HypertensionEnrichmentMYH90.94
385Septooptic dysplasiaEnrichmentFGFR10.94
386Renal hypodysplasia/aplasia 3EnrichmentFGFR30.94
387Lip and oral cavity carcinomaEnrichmentEGFR0.94
388Heart, malformation ofEnrichmentMYH60.90
389Patent foramen ovaleEnrichmentMYH60.90
390Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentFGFR10.87
391Generalized epilepsy with febrile seizures plusEnrichmentFGF130.87
392Focal segmental glomerulosclerosisEnrichmentPLCE10.85
393Renal cell carcinoma, nonpapillaryEnrichmentMET0.85
394HydrocephalusEnrichmentFGFR20.85
395Septopreoptic holoprosencephalyEnrichmentFGF80.85
396Midline interhemispheric variant of holoprosencephalyEnrichmentFGF80.85
397LissencephalyEnrichmentACTG10.83
398Centronuclear myopathyEnrichmentACTA10.83
399MalariaEnrichmentFCGR2A0.80
400Alobar holoprosencephalyEnrichmentFGF80.80
401Familial atrial fibrillationEnrichmentMYL40.78
402Arteriovenous malformations of the brainEnrichmentEGFR0.75
403Hydrops fetalis, nonimmuneEnrichmentACTA10.75
404Auditory neuropathyEnrichmentMYO7A0.75
405Endometrial cancerEnrichmentFGFR20.71
406HepatoblastomaEnrichmentFGFR30.71
407Hepatocellular carcinomaEnrichmentMET0.70
408Tooth agenesisEnrichmentFGFR10.70
409Long qt syndromeEnrichmentMYH60.68
410Non-immune hydrops fetalisEnrichmentACTA10.68
411Cystic fibrosisEnrichmentFCGR2A0.67
412Connective tissue diseaseEnrichmentACTA20.67
413Autoinflammatory diseaseEnrichmentPRF10.66
414Usher syndromeEnrichmentMYO7A0.66
415CakutEnrichmentACTG10.64
416DystoniaEnrichmentMYO5A0.63
417MicrocephalyEnrichmentACTB, ACTG10.63
418Complex neurodevelopmental disorderEnrichmentMYH10, RAC30.62
419Fetal akinesia deformation sequence 1EnrichmentACTA10.61
420Severe covid-19EnrichmentCASP100.59
421Benign epilepsy with centrotemporal spikesEnrichmentPLCB10.57
422Ovarian cancerEnrichmentEGFR, MET0.56
423Centralopathic epilepsyEnrichmentPLCB10.56
424West syndromeEnrichmentPLCB10.55
425ThrombocytopeniaEnrichmentMYH90.52
426Non-syndromic x-linked intellectual disabilityEnrichmentARHGEF60.51
427Developmental and epileptic encephalopathyEnrichmentARHGEF150.51
428Body mass index quantitative trait locus 11EnrichmentMYH90.50
429Hereditary breast ovarian cancer syndromeEnrichmentMYO7A0.47
430Charcot-marie-tooth diseaseEnrichmentARHGEF100.46
431Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentPFN10.45
432Inherited cancer-predisposing syndromeEnrichmentEGFR, MET0.41
433Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentFGF80.36
434Undetermined early-onset epileptic encephalopathyEnrichmentFGF120.36
435Primary ovarian insufficiencyEnrichmentKDR0.34
436Breast cancerEnrichmentJUN0.27
437Congenital nervous system abnormalityEnrichmentFGFR30.18
438Nervous system diseaseEnrichmentFGFR30.18
439Retinitis pigmentosaEnrichmentMYO7A0.10
440Hereditary retinal dystrophyEnrichmentMYO7A0.05
441Fundus dystrophyEnrichmentMYO7A0.05

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