Actin Nucleation by ARP-WASP Complex

Pathway network for the Actin Nucleation by ARP-WASP Complex SuperPath

Sources:
  • QIAGEN

Pathways in the Actin Nucleation by ARP-WASP Complex SuperPath

#NameSourceGenes
1Actin Nucleation by ARP-WASP ComplexQIAGEN
2CDC42 PathwayQIAGEN
3RhoA PathwayQIAGEN
4Actin Nucleation and BranchingQIAGEN

Gene overlap in member pathways for Actin Nucleation by ARP-WASP Complex SuperPath

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

Disorders associated with Actin Nucleation by ARP-WASP Complex SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Non-syndromic genetic deafnessEnrichmentACTG1, MYH14, MYO15A, MYO3A, MYO6, MYO7A, RDX6.78
2Nonsyndromic hearing lossEnrichmentACTG1, MYH14, MYO15A, MYO3A, MYO6, MYO7A, RDX6.29
3Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG1, MYH14, MYH9, MYO1A, MYO1C, MYO6, MYO7A5.64
4T-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zetaEnrichmentCD247, CD3D, CD3E5.59
5Megacystis-microcolon-intestinal hypoperistalsis syndrome 1EnrichmentACTG2, MYH11, MYLK5.20
6Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentFLT3, KIT, MYH114.98
7Lung cancer susceptibility 3EnrichmentACTA2, EGFR, ERBB2, ROS14.93
8Primary hypereosinophilic syndromeEnrichmentFGFR1, PDGFRA, PDGFRB4.92
9Visceral myopathy 1EnrichmentACTG2, MYH11, MYLK4.81
10Lung cancerEnrichmentACTA2, ALK, EGFR, ERBB2, MET4.67
11Congenital myopathy 4a, autosomal dominantEnrichmentACTA1, ITGA7, MYH7, MYL24.65
12Fetomaternal alloimmune thrombocytopenia 1EnrichmentITGA2, ITGA2B, ITGB34.62
13Lung squamous cell carcinomaEnrichmentALK, EGFR, FGFR34.62
14Giant cell glioblastomaEnrichmentEGFR, FGFR1, FGFR3, ROS14.56
15Epidermolysis bullosa, junctional 5b, with pyloric atresiaEnrichmentITGA6, ITGB4, MYO64.51
16Hemangioma, capillary infantileEnrichmentFLT4, KDR, MYH94.29
17Ovarian cancerEnrichmentALK, CDH1, EGFR, ERBB2, KIT, MET, NTRK1, PDGFRA4.12
18Pilomyxoid astrocytomaEnrichmentFGFR1, NTRK2, RAF14.06
19Lymphatic malformation 1EnrichmentEPHB4, FLT43.94
20Intracranial hypertension, idiopathicEnrichmentEPHB4, FLT43.94
21Pfeiffer syndromeEnrichmentFGFR1, FGFR23.94
22Jackson-weiss syndromeEnrichmentFGFR1, FGFR23.94
23Angioma, tuftedEnrichmentGNA14, KDR3.94
24Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG13.94
25Hereditary lymphedema iEnrichmentEPHB4, FLT43.94
26Celiac disease 1EnrichmentHLA-DQA1, HLA-DQB13.72
27Wiskott-aldrich syndromeEnrichmentWAS, WIPF13.72
28Severe cutaneous adverse reactionEnrichmentHLA-A, HLA-B3.72
29Bullous pemphigoidEnrichmentHLA-DQB1, HLA-DRB13.72
30Pediatric multiple sclerosisEnrichmentHLA-DQB1, HLA-DRB13.72
31Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentMET, MYH9, MYO15A, MYO3A, MYO6, MYO7A, ROR13.63
32Bladder cancerEnrichmentEGFR, ERBB2, ERBB3, FGFR33.61
33Nk-cell enteropathyEnrichmentAXL, ERBB4, IGF1R3.49
34Rare genetic deafnessEnrichmentACTG1, MYH9, MYO15A, MYO6, MYO7A, RDX3.49
35Crouzon syndromeEnrichmentFGFR2, FGFR33.47
36Lacrimoauriculodentodigital syndrome 1EnrichmentFGFR2, FGFR33.47
37Bleeding disorder, platelet-type, 16EnrichmentITGA2B, ITGB33.47
38Testicular germ cell cancerEnrichmentFGFR3, KIT3.47
39Anastomosing haemangiomaEnrichmentGNA11, GNA143.47
40GliosarcomaEnrichmentEGFR, FGFR1, FGFR33.21
41Saethre-chotzen syndromeEnrichmentFGFR2, FGFR33.17
42Achromatopsia 4EnrichmentGNAI3, GNAT23.17
43GliomaEnrichmentFGFR2, NTRK33.17
44Multiple sclerosisEnrichmentHLA-DQB1, HLA-DRB1, ITGB43.08
45Severe combined immunodeficiencyEnrichmentCD247, CD3D, CD3E, CD3G2.98
46Temporal arteritisEnrichmentHLA-B, HLA-DRB12.95
47Idiopathic achalasiaEnrichmentHLA-DQA1, HLA-DQB12.95
48Familial sick sinus syndromeEnrichmentGNB2, MYH62.95
49Hemifacial hyperplasiaEnrichmentFGFR2, FGFR32.95
50Acute myeloid leukemia with maturationEnrichmentFLT3, KIT2.95
51Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentFLT3, KIT2.95
52Colorectal cancerEnrichmentCDH1, ERBB2, FGFR2, FGFR3, MET, SRC2.90
53Congenital myopathy 3 with rigid spineEnrichmentACTA1, MYH72.87
54Insulin-like growth factor iEnrichmentIGF1, IGF1R2.87
55Hypertrophic cardiomyopathyEnrichmentMYH7, MYH7B, MYL2, MYL32.80
56Testicular germ cell tumorEnrichmentFGFR3, KIT2.78
5746,xy disorder of sex developmentEnrichmentFGFR3, INSR2.78
58Typical nemaline myopathyEnrichmentACTA1, CFL22.78
59Narcolepsy 2EnrichmentHLA-DQB1, HLA-DRB12.74
60Hemihyperplasia, isolatedEnrichmentIGF2, RHOA2.70
61Intestinal pseudo-obstructionEnrichmentACTG2, MYH112.70
62MicrocephalyEnrichmentACTB, ACTG1, GNAO1, GNB1, IGF1R, PAK32.67
63Glanzmann thrombasthenia 1EnrichmentITGA2B, ITGB32.63
64Gastrointestinal stromal tumorEnrichmentKIT, PDGFRA2.63
65Dilated cardiomyopathyEnrichmentACTA1, MYH6, MYH7, MYL2, VCL2.61
66Tetralogy of fallotEnrichmentEPHB4, FLT4, KDR2.58
67Hydrops fetalis, nonimmuneEnrichmentACTA1, EPHB4, FLT42.58
68Distal arthrogryposisEnrichmentACTA1, MYH3, MYL11, ROR22.58
69Ear malformationEnrichmentMYO15A, MYO6, MYO7A2.57
70Cardiomyopathy, familial hypertrophic, 1EnrichmentMYH6, MYH7, MYH7B2.57
71Moyamoya disease 1EnrichmentACTA2, DIAPH12.56
72Differentiated thyroid carcinomaEnrichmentALK, NTRK1, NTRK32.44
73B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentFLT3, HLA-C2.42
74Arteriovenous malformationEnrichmentEPHB4, TEK2.40
75Junctional epidermolysis bullosaEnrichmentITGA6, ITGB42.40
76ThrombocytopeniaEnrichmentITGA2B, ITGB3, SRC, WAS2.37
77Non-immune hydrops fetalisEnrichmentACTA1, EPHB4, FLT42.36
78Familial thoracic aortic aneurysm and dissectionEnrichmentMYH11, MYLK2.33
79Myopathy, x-linked, with excessive autophagyEnrichmentEPHB4, TEK2.31
80Autosomal dominant macrothrombocytopeniaEnrichmentITGA2B, ITGB32.31
81Melanocytic nevus syndrome, congenitalEnrichmentALK, RAF12.30
82Narcolepsy 1EnrichmentHLA-DQB1, HLA-DRB12.30
83Arthrogryposis, distal, type 1aEnrichmentMET, MYH32.30
84Nemaline myopathyEnrichmentACTA1, MYO18B2.24
85Leukemia, acute lymphoblasticEnrichmentFLT3, GNB12.23
86Lung non-small cell carcinomaEnrichmentEGFR, ERBB22.23
87Familial hypertrophic cardiomyopathyEnrichmentMYH7, MYL2, MYL32.18
88Lip and oral cavity carcinomaEnrichmentEGFR, KIT2.15
89Severe covid-19EnrichmentHLA-A, HLA-DQB1, ITGAV2.14
90Fetal akinesia deformation sequence 1EnrichmentACTA1, MUSK, ROR22.14
91Inherited cancer-predisposing syndromeEnrichmentALK, CDH1, EGFR, KIT, MET, PDGFRA2.00
92Lymphatic malformation 5EnrichmentEPHB41.97
93Brachydactyly, type b1EnrichmentROR21.97
94Erythroleukemia, familialEnrichmentERBB31.97
95HypochondroplasiaEnrichmentFGFR31.97
96Beare-stevenson cutis gyrata syndromeEnrichmentFGFR21.97
97Paget disease, extramammaryEnrichmentERBB21.97
98Hypocalciuric hypercalcemia, familial, type iiEnrichmentGNA111.97
99Osteoglophonic dysplasiaEnrichmentFGFR11.97
100Thanatophoric dysplasia, type iEnrichmentFGFR31.97
101Trigonocephaly 1EnrichmentFGFR11.97
102Donohue syndromeEnrichmentINSR1.97
103Baraitser-winter syndrome 1EnrichmentACTB1.97
104Muenke syndromeEnrichmentFGFR31.97
105Thrombocytopenia 1EnrichmentWAS1.97
106Intellectual developmental disorder, x-linked 30EnrichmentPAK31.97
107Premature aging syndrome, penttinen typeEnrichmentPDGFRB1.97
108Systemic lupus erythematosus 6EnrichmentITGAM1.97
109Hyperinsulinemic hypoglycemia, familial, 5EnrichmentINSR1.97
110Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalitiesEnrichmentINSR1.97
111Diabetes mellitus, insulin-resistant, with acanthosis nigricansEnrichmentINSR1.97
112Pseudohypoparathyroidism, type icEnrichmentGNAS1.97
113Hypereosinophilic syndrome, idiopathicEnrichmentPDGFRA1.97
114Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosisEnrichmentRAC21.97
115Mastocytosis, cutaneousEnrichmentKIT1.97
116Scaphocephaly, maxillary retrusion, and impaired intellectual developmentEnrichmentFGFR21.97
117Congenital myopathy 2a, typical, autosomal dominantEnrichmentACTA11.97
118Osseous heteroplasia, progressiveEnrichmentGNAS1.97
119Apert syndromeEnrichmentFGFR21.97
120Neuroblastoma 3EnrichmentALK1.97
121Myofibromatosis, infantile, 1EnrichmentPDGFRB1.97
122Thanatophoric dysplasia, type iiEnrichmentFGFR31.97
123Amyotrophic lateral sclerosis 18EnrichmentPFN11.97
124Myopathy, scapulohumeroperonealEnrichmentACTA11.97
125Lethal congenital contracture syndrome 2EnrichmentERBB31.97
126Neurodevelopmental disorder with involuntary movementsEnrichmentGNAO11.97
127Gist-plus syndromeEnrichmentPDGFRA1.97
128Camptodactyly, tall stature, and hearing loss syndromeEnrichmentFGFR31.97
129Bent bone dysplasia syndrome 1EnrichmentFGFR21.97
130Ventricular tachycardia, familialEnrichmentGNAI21.97
131Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS1.97
132Megacystis-microcolon-intestinal hypoperistalsis syndrome 5EnrichmentACTG21.97
133Visceral neuropathy, familial, 2, autosomal recessiveEnrichmentERBB21.97
134Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB21.97
135Deafness, autosomal recessive 108EnrichmentROR11.97
136Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiencyEnrichmentMUSK1.97
137Developmental and epileptic encephalopathy 58EnrichmentNTRK21.97
138Pituitary adenoma 3, multiple typesEnrichmentGNAS1.97
139Venous malformations, multiple cutaneous and mucosalEnrichmentTEK1.97
140Knobloch syndrome 2EnrichmentPAK21.97
141Neurodevelopmental disorder with structural brain anomalies and dysmorphic faciesEnrichmentRAC31.97
142Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK11.97
143Fetomaternal alloimmune thrombocytopenia 2EnrichmentITGA2B1.97
144Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB1.97
145Osteofibrous dysplasiaEnrichmentMET1.97
146Spondylometaepiphyseal dysplasia, short limb-hand typeEnrichmentDDR21.97
147Myeloid and lymphoid neoplasms associated with pdgfra rearrangementEnrichmentPDGFRA1.97
148Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaEnrichmentRAC21.97
149Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesEnrichmentGNAI11.97
150Nemaline myopathy 7EnrichmentCFL21.97
151Developmental and epileptic encephalopathy 17EnrichmentGNAO11.97
152Deafness, autosomal recessive 97EnrichmentMET1.97
153Prostate cancer/brain cancer susceptibilityEnrichmentEPHB21.97
154Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB51.97
155Crouzon syndrome with acanthosis nigricansEnrichmentFGFR31.97
156Becker nevus syndromeEnrichmentACTB1.97
157Dystonia-deafness syndrome 1EnrichmentACTB1.97
158Autism 9EnrichmentMET1.97
159Night blindness, congenital stationary, autosomal dominant 3EnrichmentGNAT11.97
160Visceral neuropathy, familial, 3, autosomal dominantEnrichmentACTG21.97
161Congenital myopathy 2b, severe infantile, autosomal recessiveEnrichmentACTA11.97
162Basal ganglia calcification, idiopathic, 4EnrichmentPDGFRB1.97
163Dystonia 25EnrichmentGNAL1.97
164Night blindness, congenital stationary, type 1gEnrichmentGNAT11.97
165Hypocalcemia, autosomal dominant 2EnrichmentGNA111.97
166Amyotrophic lateral sclerosis 19EnrichmentERBB41.97
167Nasopharyngeal carcinoma 3EnrichmentMST1R1.97
168Myeloid and lymphoid neoplasms associated with pdgfrb rearrangementEnrichmentPDGFRB1.97
169Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB41.97
170Autosomal dominant familial visceral neuropathyEnrichmentACTG21.97
171Acute myeloid leukemia with minimal differentiationEnrichmentFLT31.97
172Obesity, hyperphagia, and developmental delayEnrichmentNTRK21.97
173Disorders of gnas inactivationEnrichmentGNAS1.97
174Achondroplasia, severe, with developmental delay and acanthosis nigricansEnrichmentFGFR31.97
175Kosaki overgrowth syndromeEnrichmentPDGFRB1.97
176Hartsfield syndromeEnrichmentFGFR11.97
177Congenital heart defects, multiple types, 7EnrichmentFLT41.97
178Bleeding disorder, platelet-type, 22EnrichmentEPHB21.97
179Was-related disordersEnrichmentWAS1.97
180Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA1.97
181Takenouchi-kosaki syndromeEnrichmentCDC421.97
182Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB11.97
183Glaucoma 3, primary congenital, eEnrichmentTEK1.97
184Congenital myopathy 2c, severe infantile, autosomal dominantEnrichmentACTA11.97
185Sick sinus syndrome 4EnrichmentGNB21.97
186Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB1.97
187Brain abnormalities, neurodegeneration, and dysosteosclerosisEnrichmentCSF1R1.97
188Ocular pterygium-digital keloid dysplasia syndromeEnrichmentPDGFRB1.97
189Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA1.97
190Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopeniaEnrichmentRAC21.97
191Chronic mast cell leukemiaEnrichmentKIT1.97
192Warburg-cinotti syndromeEnrichmentDDR21.97
193Immunodeficiency 129EnrichmentRHOH1.97
194Tufted angioma of skinEnrichmentKDR1.97
195Arthrogryposis, distal, type 11EnrichmentMET1.97
196Amelogenesis imperfecta, type ihEnrichmentITGB61.97
197Lacrimoauriculodentodigital syndrome 2EnrichmentFGFR31.97
198Baraitser-winter syndromeEnrichmentACTB1.97
199Csf1r-related disorderEnrichmentCSF1R1.97
200Bockenheimer syndromeEnrichmentTEK1.97
201T-cell immunodeficiency with epidermodysplasia verruciformisEnrichmentRHOH1.97
202Isolated bone marrow mastocytosisEnrichmentKIT1.97
203Smoldering systemic mastocytosisEnrichmentKIT1.97
204Fetomaternal alloimmune thrombocytopenia 3EnrichmentITGA21.97
205Immune dysregulation, neurodevelopmental defects, and colitisEnrichmentITGAV1.97
206Alk-positive anaplastic large cell lymphomaEnrichmentALK1.97
207Zebra body myopathyEnrichmentACTA11.97
208Infantile lad-like disease due to rac2 deficiencyEnrichmentRAC21.97
209Fgfr3-related chondrodysplasiaEnrichmentFGFR31.97
210Congenital smooth muscle hamartomaEnrichmentACTB1.97
211Reticular dysgenesis-like severe combined immunodeficiencyEnrichmentRAC21.97
212Nocarh syndromeEnrichmentCDC421.97
213MastocytosisEnrichmentKIT1.97
214Developmental malformations-deafness-dystonia syndromeEnrichmentACTB1.97
215Camptodactyly-tall stature-scoliosis-hearing loss syndromeEnrichmentFGFR31.97
216Early-onset calcifying leukoencephalopathy-skeletal dysplasiaEnrichmentCSF1R1.97
217Cutaneous mastocytomaEnrichmentKIT1.97
218Monostotic fibrous dysplasiaEnrichmentGNAS1.97
219Typical urticaria pigmentosaEnrichmentKIT1.97
220Gnao1-related disorderEnrichmentGNAO11.97
221Actin-accumulation myopathyEnrichmentACTA11.97
222Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC11.97
223Nodular urticaria pigmentosaEnrichmentKIT1.97
224Phakomatosis cesiomarmorataEnrichmentGNA111.97
225Hartsfield-bixler-demyer syndromeEnrichmentFGFR11.97
226Alk-positive large b-cell lymphomaEnrichmentALK1.97
227Pseudoxanthomatous diffuse cutaneous mastocytosisEnrichmentKIT1.97
228Kaposiform hemangioendotheliomaEnrichmentGNA141.97
229Telangiectasia macularis eruptiva perstansEnrichmentKIT1.97
230Acute mast cell leukemiaEnrichmentKIT1.97
231Mazabraud syndromeEnrichmentGNAS1.97
232Myopathic intestinal pseudoobstructionEnrichmentACTG21.97
233Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndromeEnrichmentRAC21.97
234Non-syndromic unicoronal craniosynostosisEnrichmentFGFR21.97
235Plaque-form urticaria pigmentosaEnrichmentKIT1.97
236Serous carcinoma of the corpus uteriEnrichmentERBB21.97
237Ephb4-related lymphatic-related hydrops fetalisEnrichmentEPHB41.97
238Bullous diffuse cutaneous mastocytosisEnrichmentKIT1.97
239Actg2 visceral myopathyEnrichmentACTG21.97
240Vein of galen aneurysmal malformationEnrichmentEPHB41.97
241Testis seminomaEnrichmentKIT1.97
242HydrocephalusEnrichmentFGFR2, PDGFRB1.96
243Aortic aneurysm, familial thoracic 1EnrichmentMYH11, MYLK1.95
244MyopathyEnrichmentACTA1, MYH2, MYH71.94
245Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1aEnrichmentMYH31.93
246Developmental and epileptic encephalopathy 8EnrichmentARHGEF91.93
247Immunodeficiency 50EnrichmentMSN1.93
248Deafness, autosomal recessive 2EnrichmentMYO7A1.93
249Deafness, autosomal recessive 24EnrichmentRDX1.93
250Deafness, autosomal dominant 17EnrichmentMYH91.93
251Deafness, autosomal dominant 48EnrichmentMYO1A1.93
252Cardiomyopathy, familial hypertrophic, 8EnrichmentMYL31.93
253Deafness, autosomal dominant 22EnrichmentMYO61.93
254Cardiac valvular dysplasia 1EnrichmentPLD11.93
255Lichtenstein-knorr syndromeEnrichmentSLC9A11.93
256Nephrotic syndrome, type 8EnrichmentARHGDIA1.93
257Cardiomyopathy, dilated, 1eeEnrichmentMYH61.93
258Sick sinus syndrome 3EnrichmentMYH61.93
259Griscelli syndrome, type 1EnrichmentMYO5A1.93
260Elejalde neuroectodermal melanolysosomal syndromeEnrichmentMYO5A1.93
261Immunodeficiency 62EnrichmentARHGEF11.93
262Neurodevelopmental disorder with absent language and variable seizuresEnrichmentWASF11.93
263Neurodevelopmental disorder with midbrain and hindbrain malformationsEnrichmentARHGEF21.93
264Deafness, autosomal dominant 4aEnrichmentMYH141.93
265Deafness, autosomal recessive 37EnrichmentMYO61.93
266Intellectual developmental disorder, x-linked 46EnrichmentARHGEF61.93
267Diarrhea 15, congenitalEnrichmentMYO1A1.93
268Spermatogenic failure 99EnrichmentSEPTIN41.93
269Amyotrophic neuralgiaEnrichmentSEPTIN91.93
270Atrial fibrillation, familial, 18EnrichmentMYL41.93
271Slowed nerve conduction velocity, autosomal dominantEnrichmentARHGEF101.93
272Deafness, autosomal dominant 11EnrichmentMYO7A1.93
273Cardiomyopathy, dilated, 1wEnrichmentVCL1.93
274Deafness, autosomal recessive 30EnrichmentMYO3A1.93
275Celiac disease 4EnrichmentMYO9B1.93
276Cardiomyopathy, familial hypertrophic, 14EnrichmentMYH61.93
277Cardiomyopathy, familial hypertrophic, 15EnrichmentVCL1.93
278Peripheral neuropathy, myopathy, hoarseness, and hearing lossEnrichmentMYH141.93
279Focal segmental glomerulosclerosis 6EnrichmentMYO1E1.93
280Brain small vessel disease 5 with osteoporosisEnrichmentARHGEF151.93
281Deafness, autosomal dominant 90EnrichmentMYO3A1.93
282Myasthenic syndrome, congenital, 24, presynapticEnrichmentMYO9A1.93
283Congenital myopathy 14EnrichmentMYL11.93
284Usher syndrome type 1bEnrichmentMYO7A1.93
285Klippel-feil syndromeEnrichmentMYO18B1.93
286Autosomal dominant nonsyndromic hearing loss 17EnrichmentMYH91.93
287Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndromeEnrichmentMYO61.93
288Capillary leak syndromeEnrichmentTLN11.93
289Autosomal dominant nonsyndromic hearing loss 22EnrichmentMYO61.93
290DystoniaEnrichmentGNAL, GNB1, MYO5A1.91
291Neural tube defectsEnrichmentITGB1, PARD31.87
292Spondyloarthropathy 1EnrichmentHLA-B1.86
293Noonan syndrome 5EnrichmentRAF11.86
294Psoriasis 1EnrichmentHLA-C1.86
295Deafness, autosomal dominant 1, with or without thrombocytopeniaEnrichmentDIAPH11.86
296Cardiomyopathy, dilated, 1nnEnrichmentRAF11.86
297Wiskott-aldrich syndrome 2EnrichmentWIPF11.86
298Hiatt-neu-cooper neurodevelopmental syndromeEnrichmentRALA1.86
299Immunodeficiency 18EnrichmentCD3E1.86
300Ferguson-bonni neurodevelopmental syndromeEnrichmentANAPC71.86
301Ankylosing spondylitis 1EnrichmentHLA-B1.86
302Auditory neuropathy, autosomal dominant 1EnrichmentDIAPH31.86
303Pulmonary alveolar proteinosis, acquiredEnrichmentHLA-DRB11.86
304Immunodeficiency 25EnrichmentCD2471.86
305Lymphoproliferative syndrome 1EnrichmentITK1.86
306Birdshot chorioretinopathyEnrichmentHLA-A1.86
307Rothmund-thomson syndrome, type 1EnrichmentANAPC11.86
308Leopard syndrome 2EnrichmentRAF11.86
309Graham little-piccardi-lassueur syndromeEnrichmentHLA-DRA1.86
310Reactive arthritisEnrichmentHLA-B1.86
311Thrombocytopenia 6EnrichmentSRC1.86
312Seizures, cortical blindness, and microcephaly syndromeEnrichmentDIAPH11.86
313Diaph1-related sensorineural hearing loss-thrombocytopenia syndromeEnrichmentDIAPH11.86
314Infantile-onset mesial temporal lobe epilepsy with severe cognitive regressionEnrichmentTNK21.86
315Neurodevelopmental disorder with seizures and brain atrophyEnrichmentEXOC71.86
316Neurodevelopmental disorder with microcephaly, seizures, and brain atrophyEnrichmentEXOC81.86
317TrigonitisEnrichmentRAF11.86
318Immunodeficiency 19, severe combinedEnrichmentCD3D1.86
319Breast lobular carcinomaEnrichmentCDH11.86
320Pulmonary arterial hypertension associated with connective tissue diseaseEnrichmentHLA-B1.86
321Immunodeficiency 19EnrichmentCD3D1.86
322Familial thoracic aortic aneurysm and aortic dissectionEnrichmentACTA2, MYH11, MYLK1.83
323Cleft lip/palateEnrichmentCDH1, PDGFRA1.81
324Cardiomyopathy, dilated, 1eEnrichmentMYH7, MYL21.78
325Neuromuscular diseaseEnrichmentACTA1, MYH71.73
326Sensorineural hearing lossEnrichmentMYO15A, MYO3A, MYO7A1.73
327CraniosynostosisEnrichmentFGFR2, FGFR31.72
328Congenital myopathyEnrichmentACTA1, MYH71.69
329Centronuclear myopathyEnrichmentACTA1, CFL21.68
330Gastric cancerEnrichmentCDH1, ERBB2, FGFR21.67
331Leukocyte adhesion deficiency, type iEnrichmentITGB21.67
332Blue rubber bleb nevusEnrichmentTEK1.67
333Myeloproliferative disorder, chronic, with eosinophiliaEnrichmentPDGFRB1.67
334Pseudohypoparathyroidism, type iaEnrichmentGNAS1.67
335Insensitivity to pain, congenital, with anhidrosisEnrichmentNTRK11.67
336Pituitary adenoma 4, acth-secretingEnrichmentGNAI21.67
337Visceral neuropathy, familial, 1, autosomal recessiveEnrichmentERBB31.67
338Cutis marmorata telangiectatica congenitaEnrichmentGNA111.67
339Neutropenia, severe congenital, x-linkedEnrichmentWAS1.67
340Cervical cancerEnrichmentFGFR31.67
341Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS1.67
342Aortic aneurysm, familial thoracic 2EnrichmentACTA21.67
343PseudopseudohypoparathyroidismEnrichmentGNAS1.67
344Piebald traitEnrichmentKIT1.67
345Hyperinsulinemic hypoglycemia, familial, 4EnrichmentINSR1.67
346Aural atresia, congenitalEnrichmentFGFR21.67
347Deafness, autosomal dominant 20EnrichmentACTG11.67
348Keratosis, seborrheicEnrichmentFGFR31.67
349Smooth muscle dysfunction syndromeEnrichmentACTA21.67
350Leukocyte adhesion deficiency, type iiiEnrichmentITGB21.67
351Encephalocraniocutaneous lipomatosisEnrichmentFGFR11.67
352Aortic aneurysm, familial thoracic 6EnrichmentACTA21.67
353Baraitser-winter syndrome 2EnrichmentACTG11.67
354Moyamoya disease 5EnrichmentACTA21.67
355Night blindness, congenital stationary, type 1hEnrichmentGNB31.67
356Pain sensitivity quantitative trait locus 1EnrichmentNTRK11.67
357Antley-bixler syndrome without genital anomalies or disordered steroidogenesisEnrichmentFGFR21.67
358Lymphatic malformation 11EnrichmentTIE11.67
359Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.67
360Epidermolysis bullosa, junctional 5a, intermediateEnrichmentITGB41.67
361Infantile myofibromatosisEnrichmentPDGFRB1.67
362Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndromeEnrichmentITGA31.67
363Childhood hepatocellular carcinomaEnrichmentMET1.67
364Split hand-foot malformationEnrichmentFGFR21.67
365Rosette-forming glioneuronal tumorEnrichmentFGFR11.67
366Autosomal dominant hypocalcemiaEnrichmentGNA111.67
367PseudohypoparathyroidismEnrichmentGNAS1.67
368Papillary renal cell carcinomaEnrichmentMET1.67
369Congenital mesoblastic nephromaEnrichmentNTRK31.67
370Cervix carcinomaEnrichmentFGFR31.67
371Immune system diseaseEnrichmentCDC421.67
372FibrosarcomaEnrichmentNTRK31.67
373HypopituitarismEnrichmentGNAI21.67
374Retinitis pigmentosa 38EnrichmentMERTK1.67
375Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB51.67
376Acute myeloid leukemia without maturationEnrichmentFLT31.67
377Interfrontal craniofaciosynostosisEnrichmentFGFR11.67
378Localized junctional epidermolysis bullosa, non-herlitz typeEnrichmentITGB41.67
379Autosomal dominant nonsyndromic deafnessEnrichmentFGFR21.67
380Chronic eosinophilic leukemiaEnrichmentPDGFRA1.67
381Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS1.67
382B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormalityEnrichmentPDGFRA1.67
383Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)EnrichmentFLT31.67
384B-lymphoblastic leukemia/lymphoma with tEnrichmentKIT1.67
385Intestinal obstructionEnrichmentACTG21.67
386Cerebral visual impairmentEnrichmentGNB11.67
387Phakomatosis cesioflammeaEnrichmentGNA111.67
388Myeloma, multipleEnrichmentFGFR3, FLT3, MST1R1.65
389Aortic aneurysm, familial thoracic 4EnrichmentMYH111.63
390Amyotrophy, hereditary neuralgicEnrichmentSEPTIN91.63
391Arthrogryposis, distal, type 2aEnrichmentMYH31.63
392Ebstein anomalyEnrichmentMYH71.63
393Cataract 35EnrichmentMYH91.63
394Lethal congenital contracture syndrome 3EnrichmentPIP5K1C1.63
395Deafness, autosomal dominant 30EnrichmentMYO3A1.63
396Griscelli syndrome, type 3EnrichmentMYO5A1.63
397Arthrogryposis, distal, type 7EnrichmentMYH81.63
398Neutrophilia, hereditaryEnrichmentPIP4K2B1.63
399Duane retraction syndrome 2EnrichmentCHN11.63
400Silver-russell syndrome 3EnrichmentIGF21.63
401Neutropenia, severe congenital, 7, autosomal recessiveEnrichmentPIP4K2B1.63
402Arthrogryposis, distal, type 2b3EnrichmentMYH31.63
403Megacystis-microcolon-intestinal hypoperistalsis syndrome 2EnrichmentMYH111.63
404Genitourinary and/or brain malformation syndromeEnrichmentPPP1R12A1.63
405Atrial septal defect 3EnrichmentMYH61.63
406Cardiomyopathy, familial hypertrophic, 10EnrichmentMYL21.63
407Severe congenital neutropenia 7EnrichmentPIP4K2B1.63
408Intellectual developmental disorder, autosomal dominant 60, with seizuresEnrichmentPIP5K1A1.63
409Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndromeEnrichmentMYH21.63
410Pseudosarcomatous fibromatosisEnrichmentMYH91.63
411Visceral myopathy 2EnrichmentMYH111.63
412Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathyEnrichmentMYL21.63
413B-lymphoblastic leukemia/lymphoma with hyperdiploidyEnrichmentPIP4K2A1.63
414Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphismEnrichmentMYO18B1.63
415Arthrogryposis, distal, type 1cEnrichmentMYL111.63
416Megacystis-microcolon-intestinal hypoperistalsis syndrome 4EnrichmentMYL91.63
417Klippel-feil anomaly-myopathy-facial dysmorphism syndromeEnrichmentMYO18B1.63
418Growth delay due to insulin-like growth factor type 1 deficiencyEnrichmentIGF11.63
419Childhood-onset autosomal recessive myopathy with external ophthalmoplegiaEnrichmentMYH21.63
420Silver-russell syndrome due to an imprinting defect of 11p15EnrichmentIGF21.63
421Silver-russell syndrome due to 11p15 microduplicationEnrichmentIGF21.63
422Carney complex - trismus - pseudocamptodactyly syndromeEnrichmentMYH81.63
423Familial isolated dilated cardiomyopathyEnrichmentMYH6, MYH7, VCL1.62
424Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentCSF1R, ERBB4, PFN11.61
425Congenital stationary night blindnessEnrichmentGNAT1, GNB31.60
426Blepharocheilodontic syndrome 1EnrichmentCDH11.56
427Creutzfeldt-jakob diseaseEnrichmentHLA-DQB11.56
428Sarcoidosis 1EnrichmentHLA-DRB11.56
429Stevens-johnson syndromeEnrichmentHLA-B1.56
430Lymphoproliferative syndromeEnrichmentITK1.56
431Immunodeficiency 17EnrichmentCD3G1.56
432Aarskog syndromeEnrichmentFGD11.56
433Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasiaEnrichmentEXOC21.56
434Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentITGB31.50
435AchondroplasiaEnrichmentFGFR31.50
436Mccune-albright syndromeEnrichmentGNAS1.50
437Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR11.50
438Larsen syndromeEnrichmentFGFR31.50
439Thyroid carcinoma, familial medullaryEnrichmentNTRK11.50
440Leukoencephalopathy, hereditary diffuse, with spheroids 1EnrichmentCSF1R1.50
441Stuve-wiedemann syndrome 1EnrichmentLIFR1.50
442Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentGNA111.50
443Muscular dystrophy, congenital, due to integrin alpha-7 deficiencyEnrichmentITGA71.50
444Chromosome 8p11 myeloproliferative syndromeEnrichmentFGFR11.50
445Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.50
446Epidermolysis bullosa, junctional 6, with pyloric atresiaEnrichmentITGA61.50
447Primary polycythemiaEnrichmentEPOR1.50
448Bronchopulmonary dysplasiaEnrichmentMUSK1.50
449HamartomaEnrichmentFGFR31.50
450Lymphatic malformation 7EnrichmentEPHB41.50
451Capillary malformation-arteriovenous malformation 2EnrichmentEPHB41.50
452SpermatocytomaEnrichmentFGFR31.50
453Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS1.50
454Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R1.50
455Bleeding disorder, platelet-type, 24EnrichmentITGB31.50
456Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.50
457Mixed phenotype acute leukemia with tEnrichmentFLT31.50
458Alopecia - intellectual disability syndromeEnrichmentITGB61.50
459Renal cell carcinomaEnrichmentMET1.50
460Stüve-wiedemann syndromeEnrichmentLIFR1.50
461Testicular cancerEnrichmentFGFR31.50
462Endometrial cancerEnrichmentCDH1, FGFR21.48
463Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentMYH91.46
464Klippel-feil syndrome 1, autosomal dominantEnrichmentMYO18B1.46
465Deafness, autosomal recessive 3EnrichmentMYO15A1.46
466Cardiomyopathy, dilated, 1c, with or without left ventricular noncompactionEnrichmentMYH7B1.46
467Spondylocarpotarsal synostosis syndromeEnrichmentMYH31.46
468Aortic aneurysm, familial thoracic 7EnrichmentMYLK1.46
469Microcephaly, progressive, with seizures and cerebral and cerebellar atrophyEnrichmentMYH151.46
470Duane retraction syndromeEnrichmentCHN11.46
471Microcephaly 17, primary, autosomal recessiveEnrichmentCIT1.46
472Qualitative or quantitative defects of beta-myosin heavy chainEnrichmentMYH71.46
473Idiopathic camptocormiaEnrichmentMYH71.46
474Congenital diarrheaEnrichmentMYO1A1.46
475Tricuspid valve insufficiencyEnrichmentMYH111.46
476Beckwith-wiedemann syndrome due to imprinting defect of 11p15EnrichmentIGF21.46
477Deafness, autosomal recessiveEnrichmentMYH9, MYO15A, MYO7A1.42
478Hirschsprung disease 1EnrichmentERBB2, ERBB31.41
479Autosomal recessive nonsyndromic deafnessEnrichmentMYH9, MYO15A, MYO7A1.41
480Takayasu arteritisEnrichmentHLA-B1.39
481Aarskog-scott syndromeEnrichmentFGD11.39
482Intellectual developmental disorder, x-linked, syndromic, claes-jensen typeEnrichmentFGD11.39
483Adult-onset myasthenia gravisEnrichmentHLA-DQA11.39
484Syndromic x-linked intellectual disability claes-jensen typeEnrichmentFGD11.39
485Vogt-koyanagi-harada diseaseEnrichmentHLA-DRB11.39
486Amelogenesis imperfecta, type iiiaEnrichmentITGB61.37
487Erythrocytosis, familial, 1EnrichmentEPOR1.37
488Nemaline myopathy 2EnrichmentACTA11.37
489Spastic paraplegia 17, autosomal dominantEnrichmentGNG31.37
490Pseudohypoparathyroidism, type ibEnrichmentGNAS1.37
491Autoimmune lymphoproliferative syndromeEnrichmentACTA21.37
492Auriculocondylar syndrome 1EnrichmentGNAI31.37
493Lipodystrophy, congenital generalized, type 2EnrichmentGNG31.37
494Glaucoma 3, primary infantile, bEnrichmentTEK1.37
495Epidermolysis bullosa simplex 5c, with pyloric atresiaEnrichmentITGB41.37
496Retinitis pigmentosa 26EnrichmentITGA41.37
497CholangiocarcinomaEnrichmentROS11.37
498Barrett esophagusEnrichmentERBB21.37
499Aminoacylase 1 deficiencyEnrichmentACTB1.37
500Chronic myelomonocytic leukemiaEnrichmentFLT31.37
501Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCDC421.37
502Knobloch syndromeEnrichmentPAK21.37
503Non-syndromic bicoronal craniosynostosisEnrichmentFGFR31.37
504Systemic mastocytosis with associated hematologic neoplasmEnrichmentKIT1.37
505Intermediate nemaline myopathyEnrichmentACTA11.37
506Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.37
507Myopathy, distal, 1EnrichmentMYH71.34
508Klippel-feil syndrome 2, autosomal recessiveEnrichmentMYO18B1.34
509Congenital myopathy 7b, myosin storage, autosomal recessiveEnrichmentMYH71.34
510Carney complex variantEnrichmentMYH81.34
511Congenital myopathy 7a, myosin storage, autosomal dominantEnrichmentMYH71.34
512Congenital myopathy 6 with ophthalmoplegiaEnrichmentMYH21.34
513Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1bEnrichmentMYH31.34
514Hyaline body myopathyEnrichmentMYH71.34
515Silver-russell syndrome due to a point mutationEnrichmentIGF21.34
516Mitral valve insufficiencyEnrichmentMYH111.34
517Connective tissue diseaseEnrichmentACTA2, FGFR31.34
518CakutEnrichmentACTG1, LIFR1.29
519Cataract 6, multiple typesEnrichmentEPHA21.28
520Capillary malformations, congenitalEnrichmentGNA111.28
521Epidermolysis bullosa simplex 1c, localizedEnrichmentITGB41.28
522Robinow syndrome, autosomal recessive 1EnrichmentROR21.28
523Knobloch syndrome 1EnrichmentPAK21.28
524Mosaic variegated aneuploidy syndrome 1EnrichmentPAK61.28
525Night blindness, congenital stationary, type 1cEnrichmentGNAT11.28
526Glanzmann thrombasthenia 2EnrichmentITGB31.28
527Pre-eclampsiaEnrichmentFLT11.28
528HoloprosencephalyEnrichmentFGFR11.28
529Epidermolysis bullosaEnrichmentITGA61.28
530Aplasia cutis congenitaEnrichmentITGB41.28
531AniridiaEnrichmentEPHA21.28
532Coloboma of choroid and retinaEnrichmentACTG11.28
533Severe congenital nemaline myopathyEnrichmentACTA11.28
534Diffuse gastric and lobular breast cancer syndromeEnrichmentCDH11.27
535Congenital generalized lipodystrophyEnrichmentFOS1.27
536Noonan syndrome with multiple lentiginesEnrichmentRAF11.27
537Systemic-onset juvenile idiopathic arthritisEnrichmentHLA-DRB11.27
538Moebius syndromeEnrichmentCHN11.24
539Martsolf syndrome 1EnrichmentARHGAP51.24
540Arthrogryposis, distal, type 2b1EnrichmentMYH31.24
541Deafness, autosomal recessive 9EnrichmentMYO15A1.24
542Deafness, autosomal recessive 63EnrichmentMYH91.24
543Robinow syndrome, autosomal dominant 2EnrichmentCHN11.24
544Congenital ptosisEnrichmentMYH101.24
545Otof-related hearing lossEnrichmentMYO15A1.24
546Acute megakaryocytic leukemiaEnrichmentSEPTIN91.24
547Genetic steroid-resistant nephrotic syndromeEnrichmentARHGDIA, MYO1E1.22
548Prostate cancerEnrichmentCDH1, EPHB21.22
549Melanoma, uvealEnrichmentGNA111.20
550Cowden syndrome 1EnrichmentEGFR1.20
551Epidermolysis bullosa, junctional 1a, intermediateEnrichmentITGB41.20
552Split-hand/foot malformation 1EnrichmentFGFR21.20
553Holoprosencephaly 1EnrichmentFGFR11.20
554Inflammatory myofibroblastic tumorEnrichmentALK1.20
555Junctional epidermolysis bullosa non-herlitz typeEnrichmentITGB41.20
556Autosomal recessive robinow syndromeEnrichmentROR21.20
557Left ventricular noncompactionEnrichmentMYH7, MYH7B1.20
558Cerebral palsyEnrichmentGNB1, PDGFRB1.18
559Follicular lymphomaEnrichmentHLA-DRB11.17
560Histiocytoid hemangiomaEnrichmentFOS1.17
561Diffuse cutaneous systemic sclerosisEnrichmentHLA-DRB11.17
562Inherited arrhythmogenic cardiomyopathyEnrichmentMYH71.17
563Leukemia, acute myeloidEnrichmentFLT3, KIT1.16
564Nevus, epidermalEnrichmentFGFR31.14
565Glaucoma 3, primary congenital, aEnrichmentTEK1.14
566Squamous cell carcinoma, head and neckEnrichmentEGFR1.14
567Capillary malformation-arteriovenous malformation 1EnrichmentEPHB41.14
568Renal cell carcinoma, papillary, 1EnrichmentMET1.14
569Neuropathy, hereditary sensory and autonomic, type vEnrichmentNTRK11.14
570BrachydactylyEnrichmentGNAS1.14
571Epidermolysis bullosa simplexEnrichmentITGB41.14
572Childhood-onset nemaline myopathyEnrichmentACTA11.14
573Meniere diseaseEnrichmentMYO7A1.10
574Silver-russell syndrome 1EnrichmentIGF21.10
575Familial isolated restrictive cardiomyopathyEnrichmentMYL21.10
576Pendred syndromeEnrichmentDIAPH11.10
577Granulomatosis with polyangiitisEnrichmentHLA-DPA11.10
578Limited sclerodermaEnrichmentHLA-DRB11.10
579Cleft lip with or without cleft palateEnrichmentCDH11.10
580West syndromeEnrichmentGNAO1, NTRK21.09
581Glioma susceptibility 1EnrichmentERBB21.08
582Basal ganglia calcification, idiopathic, 1EnrichmentPDGFRB1.08
583Spastic paraplegia 4, autosomal dominantEnrichmentGNAS1.08
584Renal hypodysplasia/aplasia 1EnrichmentITGA81.08
585Mosaic variegated aneuploidy syndromeEnrichmentPAK61.08
586HypothyroidismEnrichmentGNB11.08
587NeuroblastomaEnrichmentALK1.08
588Choreatic diseaseEnrichmentGNAO11.08
589Early-onset posterior polar cataractEnrichmentEPHA21.08
590MyocarditisEnrichmentMYH71.05
591Hypoplastic left heart syndromeEnrichmentMYH61.05
592Male infertility due to globozoospermiaEnrichmentSEPTIN41.05
593Nephrotic syndromeEnrichmentITGA3, MYO1E1.04
594MyelofibrosisEnrichmentSRC1.03
595Noonan syndrome 3EnrichmentRAF11.03
596Oligoarticular juvenile idiopathic arthritisEnrichmentCD2471.03
597Rheumatoid factor-negative juvenile idiopathic arthritisEnrichmentCD2471.03
598Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC11.03
599Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentFLT31.03
600Hypogonadotropic hypogonadismEnrichmentFGFR11.03
601Primary hyperaldosteronismEnrichmentGNAS1.03
602Ventricular septal defectEnrichmentTEK1.03
603Renal agenesis, bilateralEnrichmentITGA81.03
604Complex neurodevelopmental disorderEnrichmentGNB2, MYH10, RAC3, WASF11.03
605Systemic lupus erythematosusEnrichmentHLA-DRB1, ITGAM1.00
606Cardiomyopathy, familial hypertrophic, 4EnrichmentMYH71.00
607Familial isolated arrhythmogenic right ventricular dysplasiaEnrichmentMYH71.00
608Autosomal dominant non-syndromic intellectual disabilityEnrichmentERBB4, GNB11.00
609Cat eye syndromeEnrichmentACTG10.99
610Meier-gorlin syndrome 1EnrichmentFGFR20.99
611Amelogenesis imperfecta, type ieEnrichmentITGB60.99
612Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiencyEnrichmentMUSK0.99
613AchromatopsiaEnrichmentGNAT20.99
614Primary bone dysplasiaEnrichmentFGFR30.99
615Lennox-gastaut syndromeEnrichmentMAPK100.98
616Congenital nervous system abnormalityEnrichmentFGFR3, GNAO1, GNB50.97
617Nervous system diseaseEnrichmentFGFR3, GNAO1, GNB50.97
618Frontotemporal dementia 1EnrichmentCSF1R0.95
619Myelodysplastic syndromeEnrichmentGNB10.95
620OsteochondrodysplasiaEnrichmentFGFR30.95
621Movement diseaseEnrichmentGNAO10.95
622Usher syndrome type 2EnrichmentMYO7A0.91
623Presynaptic congenital myasthenic syndromesEnrichmentMYO9A0.91
624Undetermined early-onset epileptic encephalopathyEnrichmentLIMK1, NTRK20.91
625Septooptic dysplasiaEnrichmentFGFR10.91
626Renal hypodysplasia/aplasia 3EnrichmentFGFR30.91
627Postsynaptic congenital myasthenic syndromesEnrichmentMUSK0.91
628Alzheimer's diseaseEnrichmentCSF1R0.88
629Restrictive cardiomyopathyEnrichmentMYH70.88
630Primary ovarian insufficiencyEnrichmentKDR, NTRK10.88
631Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentFGFR10.85
632Cone-rod dystrophy 6EnrichmentGNAT20.85
633CataractEnrichmentEPHA20.85
634Isolated macular dystrophyEnrichmentITGA40.85
635AsthmaEnrichmentHLA-G0.85
636Microphthalmia/coloboma 12EnrichmentMYH100.85
637Renal cell carcinoma, nonpapillaryEnrichmentMET0.82
638Rare genetic intellectual disabilityEnrichmentGNAO10.82
639Heart diseaseEnrichmentMYL20.82
640Body mass index quantitative trait locus 11EnrichmentGNAS, MYH90.82
641RhabdomyosarcomaEnrichmentALK0.80
642Microform holoprosencephalyEnrichmentFGFR10.80
643Lobar holoprosencephalyEnrichmentFGFR10.80
644HypertelorismEnrichmentFGFR2, MYH100.79
645Coloboma of maculaEnrichmentMYH100.79
646Wilms tumor 1EnrichmentIGF20.79
647Usher syndrome, type iEnrichmentMYO7A0.79
648MyopiaEnrichmentMYH110.79
649Chromosome 1p36 deletion syndromeEnrichmentPRKCZ0.78
650Alzheimer disease, familial, 1EnrichmentCSF1R0.77
651Hypertension, essentialEnrichmentGNB30.77
652Cleft palate, isolatedEnrichmentGNB10.77
653Dandy-walker syndromeEnrichmentPDGFRB0.77
654Cataract 44EnrichmentEPHA20.77
655Wolff-parkinson-white syndromeEnrichmentMYH70.76
656HypertensionEnrichmentMYH90.76
657OsteoporosisEnrichmentSRC0.75
658Early infantile developmental and epileptic encephalopathyEnrichmentGNAO10.75
659Semilobar holoprosencephalyEnrichmentFGFR10.75
660Normosmic congenital hypogonadotropic hypogonadismEnrichmentFGFR10.75
661Early-onset nuclear cataractEnrichmentEPHA20.75
662Arteriovenous malformations of the brainEnrichmentEGFR0.73
663Noonan syndrome and noonan-related syndromeEnrichmentRAF10.73
664Beckwith-wiedemann syndromeEnrichmentIGF20.72
665Heart, malformation ofEnrichmentMYH60.72
666Patent foramen ovaleEnrichmentMYH60.72
667Williams-beuren syndromeEnrichmentLIMK10.71
668LissencephalyEnrichmentACTG10.69
669HepatoblastomaEnrichmentFGFR30.69
670Hepatocellular carcinomaEnrichmentMET0.67
671Attention deficit-hyperactivity disorderEnrichmentGNB50.67
672Myocardial infarctionEnrichmentITGB30.67
673Tooth agenesisEnrichmentFGFR10.67
674Skin diseaseEnrichmentITGB40.67
675Kallmann syndromeEnrichmentFGFR10.66
676Precursor t-cell acute lymphoblastic leukemiaEnrichmentFLT30.66
677Human immunodeficiency virus type 1EnrichmentHLA-C0.66
678Cone dystrophyEnrichmentGNAT20.64
679Behcet syndromeEnrichmentHLA-B0.63
680Parkinson's diseaseEnrichmentTNK20.63
681Developmental and epileptic encephalopathy 1EnrichmentGNAO10.62
682Familial atrial fibrillationEnrichmentMYL40.61
683StrabismusEnrichmentGNB10.60
684Auditory neuropathyEnrichmentMYO7A0.58
685Noonan syndrome 1EnrichmentRAF10.56
686Breast cancerEnrichmentCDH1, JUN0.56
687RasopathyEnrichmentRAF10.52
688Long qt syndromeEnrichmentMYH60.51
689Primary autosomal recessive microcephalyEnrichmentCIT0.50
690Eye diseaseEnrichmentGNAT20.50
691Usher syndromeEnrichmentMYO7A0.49
692Developmental and epileptic encephalopathyEnrichmentGNAO10.49
693Meckel syndrome, type 1EnrichmentEXOC40.48
694Non-syndromic x-linked intellectual disabilityEnrichmentARHGEF60.46
695Type 2 diabetes mellitusEnrichmentINSR0.44
696Hereditary retinal dystrophyEnrichmentGNAT1, GNAT2, ITGA4, MERTK, MYO7A0.43
697Fundus dystrophyEnrichmentGNAT1, GNAT2, ITGA4, MERTK, MYO7A0.43
698Charcot-marie-tooth diseaseEnrichmentARHGEF100.42
699EpilepsyEnrichmentDIAPH10.37
700Hereditary breast carcinomaEnrichmentCDH10.34
701Hereditary breast ovarian cancer syndromeEnrichmentMYO7A0.32
702Autosomal recessive non-syndromic intellectual disabilityEnrichmentEZR0.30
703Cone-rod dystrophy 2EnrichmentITGA40.28
704Retinitis pigmentosaEnrichmentGNAT1, MERTK, MYO7A0.25
705Autism spectrum disorderEnrichmentGNB10.16

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