Cytoskeletal Signaling

No Pathway Network information available for Cytoskeletal Signaling

Pathways in the Cytoskeletal Signaling SuperPath

#NameSourceGenes
1Cytoskeletal SignalingCell Signaling Technology
(see all 308) (see less)

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

Disorders associated with Cytoskeletal Signaling SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Dilated cardiomyopathyEnrichmentACTA1, ACTC1, DES, EMD, FLII, FLNC, JUP, LMNA, TNNI3, TNNT2, TPM1, VCL6.64
2LissencephalyEnrichmentACTG1, DCX, PAFAH1B1, TUBA1A, TUBB, TUBB3, TUBG16.59
3Neuromuscular diseaseEnrichmentACTA1, DES, EMD, GOLGA2, LMNA, SPTAN15.72
4Familial isolated dilated cardiomyopathyEnrichmentACTC1, DES, LMNA, TMPO, TNNI3, TNNT2, TPM1, VCL4.63
5Pachyonychia congenita 1EnrichmentKRT17, KRT6A, KRT6B4.34
6Familial hypertrophic cardiomyopathyEnrichmentACTC1, DES, FLNC, TNNI3, TNNT2, TPM14.06
7Cardiomyopathy, familial hypertrophic, 1EnrichmentFLNC, LMNA, TNNI3, TNNT2, TPM13.76
8Familial isolated restrictive cardiomyopathyEnrichmentFLNC, TNNI3, TNNT23.42
9Arrhythmogenic right ventricular cardiomyopathyEnrichmentDES, FLNC, JUP, LMNA3.42
10Blepharocheilodontic syndrome 1EnrichmentCDH1, CTNND13.29
11Cardiomyopathy, dilated, 1dEnrichmentLMNA, TNNT23.29
12Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG13.29
13White sponge nevusEnrichmentKRT13, KRT43.29
14MyocarditisEnrichmentLMNA, TNNI3, TNNT23.22
15Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentEMD, LMNA, NEFL, VCP3.11
16Progressive non-fluent aphasiaEnrichmentCHMP2B, MAPT, VCP3.06
17Behavioral variant of frontotemporal dementiaEnrichmentCHMP2B, MAPT, VCP3.06
18Left ventricular noncompactionEnrichmentACTC1, LMNA, TNNI3, TNNT2, TPM12.96
19Band heterotopiaEnrichmentDCX, PAFAH1B12.82
20Cryptogenic cirrhosisEnrichmentKRT18, KRT82.82
21Tubulinopathy-associated dysgyriaEnrichmentTUBA1A, TUBB32.82
22Restrictive cardiomyopathyEnrichmentFLNC, TNNI3, TNNT22.66
23Hereditary spastic paraplegiaEnrichmentATL1, ERLIN1, ERLIN2, SPTAN1, ZFYVE262.60
24Emery-dreifuss muscular dystrophy 1, x-linkedEnrichmentEMD, LMNA2.52
25Emery-dreifuss muscular dystrophyEnrichmentEMD, LMNA2.52
26Sick sinus syndromeEnrichmentCORO1A, LMNA2.52
27Epidermolysis bullosa simplex 2f, with mottled pigmentationEnrichmentKRT5, PLEC2.31
28Epidermolysis bullosa simplex 1a, generalized severeEnrichmentKRT5, PLEC2.31
29Martsolf syndrome 1EnrichmentARHGAP35, ARHGAP52.31
30Charcot-marie-tooth disease, axonal, type 2eEnrichmentNEFL, VCP2.31
31Chromosome 15q11.2 deletion syndromeEnrichmentPAFAH1B1, TUBG12.31
32Histiocytoid hemangiomaEnrichmentLMNA, VIM2.31
33Cardiomyopathy, dilated, 1eEnrichmentDES, LMNA, TPM12.21
34Moyamoya disease 1EnrichmentACTA2, DIAPH12.14
35Epidermolysis bullosa, junctional 5b, with pyloric atresiaEnrichmentMYO6, PLEC2.14
36Congenital fibrosis of the extraocular musclesEnrichmentTUBA1A, TUBB32.14
37Cleft lip with or without cleft palateEnrichmentCDH1, CTNND12.14
38Patent foramen ovaleEnrichmentACTC1, FLNA, FLNC2.13
39Non-syndromic genetic deafnessEnrichmentACTG1, MYH14, MYO6, RDX2.06
40Semantic dementiaEnrichmentCHMP2B, MAPT2.00
41Epidermolysis bullosa simplexEnrichmentKRT5, PLEC2.00
42Myofibrillar myopathyEnrichmentDES, FLNC2.00
43Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentCHMP2B, DCTN1, MAPT, PFN1, VCP2.00
44Cardiomyopathy, dilated, 1aEnrichmentFLNC, LMNA, TNNI31.94
45MyopathyEnrichmentACTA1, DNM2, EMD, PLEC1.90
46Skin diseaseEnrichmentFERMT1, KRT17, PLEC1.89
47Charcot-marie-tooth diseaseEnrichmentDCTN1, DNM2, LMNA, NEFL1.87
48Nonsyndromic hearing lossEnrichmentACTG1, MYH14, MYO6, RDX1.83
49Hypertrophic cardiomyopathyEnrichmentACTC1, TNNI3, TNNT2, TPM11.79
50Cardiomyopathy, familial hypertrophic, 4EnrichmentTNNI3, TNNT21.78
51Nemaline myopathyEnrichmentACTA1, FLNC1.69
52Autosomal dominant macrothrombocytopeniaEnrichmentACTN1, ITGA2B1.69
53Palmoplantar keratoderma and congenital alopecia 1EnrichmentGJA11.64
54Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typicalEnrichmentLMNB11.64
55Cardiomyopathy, familial hypertrophic, 2EnrichmentTNNT21.64
56Cardiomyopathy, familial hypertrophic, 3EnrichmentTPM11.64
57Kindler syndromeEnrichmentFERMT11.64
58Boomerang dysplasiaEnrichmentFLNB1.64
59Charcot-marie-tooth disease, axonal, type 2a1EnrichmentKIF1B1.64
60Skin creases, congenital symmetric circumferential, 1EnrichmentTUBB1.64
61Perry syndromeEnrichmentDCTN11.64
62Pachyonychia congenita 2EnrichmentKRT171.64
63Elsahy-waters syndromeEnrichmentCDH111.64
64Hypoplastic left heart syndrome 1EnrichmentGJA11.64
65Spastic paraplegia 3, autosomal dominantEnrichmentATL11.64
66Baraitser-winter syndrome 1EnrichmentACTB1.64
67Thrombocytopenia 1EnrichmentWAS1.64
68Pulmonary atresia with intact ventricular septumEnrichmentTPM11.64
69Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvementEnrichmentTUBB31.64
70Intellectual developmental disorder, x-linked 30EnrichmentPAK31.64
71Intellectual developmental disorder, x-linked 99EnrichmentUSP9X1.64
72Griscelli syndrome, type 2EnrichmentRAB27A1.64
73Focal segmental glomerulosclerosis 1EnrichmentACTN41.64
74Immunodeficiency 50EnrichmentMSN1.64
75Otopalatodigital syndrome, type iEnrichmentFLNA1.64
76Arrhythmogenic right ventricular dysplasia, familial, 12EnrichmentJUP1.64
77Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linkedEnrichmentFLNA1.64
78Immunodeficiency 61EnrichmentSH3KBP11.64
79Cardiomyopathy, dilated, 2aEnrichmentTNNI31.64
80Lipodystrophy, congenital generalized, type 3EnrichmentCAV11.64
81Dystonia 1, torsion, autosomal dominantEnrichmentTOR1A1.64
82Deafness, autosomal recessive 24EnrichmentRDX1.64
83Deafness, autosomal dominant 17EnrichmentMYH91.64
84Spastic paraplegia 18b, autosomal recessiveEnrichmentERLIN21.64
85Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosisEnrichmentRAC21.64
86Tubulointerstitial kidney disease, autosomal dominant 2EnrichmentMUC11.64
87Cardiomyopathy, familial restrictive, 3EnrichmentTNNT21.64
88Cone-rod dystrophy 9EnrichmentADAM91.64
89Melanoma, uveal 2EnrichmentBAP11.64
90Craniolenticulosutural dysplasiaEnrichmentSEC23A1.64
91Congenital myopathy 2a, typical, autosomal dominantEnrichmentACTA11.64
92Oculodentodigital dysplasiaEnrichmentGJA11.64
93Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1EnrichmentVCP1.64
94Raph blood group systemEnrichmentCD1511.64
95Cardiomyopathy, familial hypertrophic, 7EnrichmentTNNI31.64
96Schwannomatosis, vestibularEnrichmentNF21.64
97Amyloidosis, finnish typeEnrichmentGSN1.64
98Deafness, autosomal dominant 22EnrichmentMYO61.64
99Optic atrophy 5EnrichmentDNM1L1.64
100Atelosteogenesis, type iiiEnrichmentFLNB1.64
101Deafness, autosomal dominant 1, with or without thrombocytopeniaEnrichmentDIAPH11.64
102Atelosteogenesis, type iEnrichmentFLNB1.64
103Developmental and epileptic encephalopathy 5EnrichmentSPTAN11.64
104Amyotrophic lateral sclerosis 18EnrichmentPFN11.64
105Cortical dysplasia, complex, with other brain malformations 6EnrichmentTUBB1.64
106Charcot-marie-tooth disease, dominant intermediate bEnrichmentDNM21.64
107Myopathy, scapulohumeroperonealEnrichmentACTA11.64
108Charcot-marie-tooth disease, demyelinating, type 1fEnrichmentNEFL1.64
109Nephrotic syndrome, type 8EnrichmentARHGDIA1.64
110Aortic aneurysm, familial thoracic 8EnrichmentPRKG11.64
111Encephalopathy due to defective mitochondrial and peroxisomal fission 1EnrichmentDNM1L1.64
112Neuroblastoma 1EnrichmentKIF1B1.64
113Pachyonychia congenita 3EnrichmentKRT6A1.64
114Scapuloperoneal syndrome, neurogenic, kaeser typeEnrichmentDES1.64
115Pulmonary hypertension, primary, 3EnrichmentCAV11.64
116Steatocystoma multiplexEnrichmentKRT171.64
117White sponge nevus 1EnrichmentKRT41.64
118Craniometaphyseal dysplasia, autosomal recessiveEnrichmentGJA11.64
119Immunodeficiency 62EnrichmentARHGEF11.64
120Fetal akinesia deformation sequence 4EnrichmentNUP881.64
121Hiatt-neu-cooper neurodevelopmental syndromeEnrichmentRALA1.64
122Naxos diseaseEnrichmentJUP1.64
123Halperin-birk syndromeEnrichmentSEC31A1.64
124Megacystis-microcolon-intestinal hypoperistalsis syndrome 5EnrichmentACTG21.64
125Teebi hypertelorism syndrome 2EnrichmentCDH111.64
126Neurodevelopmental disorder with midbrain and hindbrain malformationsEnrichmentARHGEF21.64
127Anencephaly 2EnrichmentNUAK21.64
128Knobloch syndrome 2EnrichmentPAK21.64
129Deafness, autosomal dominant 4aEnrichmentMYH141.64
130Terminal osseous dysplasiaEnrichmentFLNA1.64
131Developmental and epileptic encephalopathy 91EnrichmentPPP3CA1.64
132Charcot-marie-tooth disease, axonal, type 2bEnrichmentRAB7A1.64
133Neurodevelopmental disorder with structural brain anomalies and dysmorphic faciesEnrichmentRAC31.64
134Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual developmentEnrichmentPPP3CA1.64
135Cardiomyopathy, dilated, 2jEnrichmentFLII1.64
136Charcot-marie-tooth disease, dominant intermediate gEnrichmentNEFL1.64
137Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK11.64
138Lissencephaly, x-linked, 1EnrichmentDCX1.64
139Fetomaternal alloimmune thrombocytopenia 2EnrichmentITGA2B1.64
140Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB1.64
141Fg syndrome 2EnrichmentFLNA1.64
142Premature ovarian failure 2aEnrichmentDIAPH21.64
143Charcot-marie-tooth disease type 2bEnrichmentRAB7A1.64
144Neurodegeneration with brain iron accumulation 7EnrichmentREPS11.64
145Azoospermia, obstructive, with nephrolithiasisEnrichmentCLDN21.64
146Deafness, autosomal recessive 37EnrichmentMYO61.64
147Parkinson-dementia syndromeEnrichmentMAPT1.64
148Spastic paraplegia 15, autosomal recessiveEnrichmentZFYVE261.64
149Immunodeficiency 110 with lymphoproliferationEnrichmentSTK41.64
150Intellectual developmental disorder, x-linked 99, syndromic, female-restrictedEnrichmentUSP9X1.64
151Intellectual developmental disorder, x-linked 46EnrichmentARHGEF61.64
152Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaEnrichmentRAC21.64
153Intellectual developmental disorder, autosomal dominant 76EnrichmentMARK21.64
154Supranuclear palsy, progressive, 1EnrichmentMAPT1.64
155Adult onset demyelinating leukodystrophyEnrichmentLMNB11.64
156Palmoplantar keratoderma, nonepidermolytic, focal or diffuseEnrichmentKRT6C1.64
157Oculodentodigital dysplasia, autosomal recessiveEnrichmentGJA11.64
158Lipodystrophy, familial partial, type 7EnrichmentCAV11.64
159Epilepsy, progressive myoclonic, 9EnrichmentLMNB21.64
160White sponge nevus 2EnrichmentKRT131.64
161Cardiomyopathy, dilated, 1wEnrichmentVCL1.64
162Progressive supranuclear palsyEnrichmentMAPT1.64
163Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matterEnrichmentRAB11B1.64
164Hereditary spastic paraplegia 18EnrichmentERLIN21.64
165Lipodystrophy, partial, acquiredEnrichmentLMNB21.64
166Otopalatodigital syndrome spectrum disorderEnrichmentFLNA1.64
167Becker nevus syndromeEnrichmentACTB1.64
168Neuronopathy, distal hereditary motor, autosomal dominant 14EnrichmentDCTN11.64
169Pancreatic cancer 1EnrichmentPALLD1.64
170Dystonia-deafness syndrome 1EnrichmentACTB1.64
171Epidermolysis bullosa simplex 7, with nephropathy and deafnessEnrichmentCD1511.64
172Focal segmental glomerulosclerosis 3EnrichmentCD2AP1.64
173Visceral neuropathy, familial, 3, autosomal dominantEnrichmentACTG21.64
174Charcot-marie-tooth disease type 1fEnrichmentNEFL1.64
175Charcot-marie-tooth disease type 2a1EnrichmentKIF1B1.64
176Lethal congenital contracture syndrome 5EnrichmentDNM21.64
177Cardiomyopathy, familial hypertrophic, 15EnrichmentVCL1.64
178Developmental delay with hypotonia, myopathy, and brain abnormalitiesEnrichmentGOLGA21.64
179Congenital myopathy 2b, severe infantile, autosomal recessiveEnrichmentACTA11.64
180Neuropathy, hereditary sensory, type idEnrichmentATL11.64
181Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic faciesEnrichmentRAP1B1.64
182Immunodeficiency 46EnrichmentTFRC1.64
183Bleeding disorder, platelet-type, 15EnrichmentACTN11.64
184Retinitis pigmentosa 89EnrichmentKIF3B1.64
185Peripheral neuropathy, myopathy, hoarseness, and hearing lossEnrichmentMYH141.64
186Pachyonychia congenita 4EnrichmentKRT6B1.64
187Microcephaly 26, primary, autosomal dominantEnrichmentLMNB11.64
188Lynch syndrome 8EnrichmentEPCAM1.64
189Autosomal dominant familial visceral neuropathyEnrichmentACTG21.64
190Lipodystrophy, congenital generalized, type 4EnrichmentCAVIN11.64
191Frontotemporal dementia and/or amyotrophic lateral sclerosis 6EnrichmentVCP1.64
192Visual impairment and progressive phthisis bulbiEnrichmentMARK31.64
193Atypical werner syndromeEnrichmentLMNA1.64
194Was-related disordersEnrichmentWAS1.64
195X-linked ehlers-danlos syndromeEnrichmentFLNA1.64
196Maturity-onset diabetes of the young, type 14EnrichmentAPPL11.64
197Seizures, cortical blindness, and microcephaly syndromeEnrichmentDIAPH11.64
198Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA1.64
199Erythrokeratodermia variabilis et progressiva 3EnrichmentGJA11.64
200Takenouchi-kosaki syndromeEnrichmentCDC421.64
201Diaph1-related sensorineural hearing loss-thrombocytopenia syndromeEnrichmentDIAPH11.64
202Congenital myopathy 2c, severe infantile, autosomal dominantEnrichmentACTA11.64
203Low density lipoprotein cholesterol level quantitative trait locus 8EnrichmentLIMA11.64
204Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB1.64
205Classic progressive supranuclear palsy syndromeEnrichmentMAPT1.64
206Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA1.64
207Peho-like syndromeEnrichmentCCDC88A1.64
208Arthrogryposis multiplex congenita 5EnrichmentTOR1A1.64
209Mitochondrial complex iv deficiency, nuclear type 16EnrichmentCOX4I11.64
210Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopeniaEnrichmentRAC21.64
211Multisystem proteinopathyEnrichmentVCP1.64
212Griscelli syndromeEnrichmentRAB27A1.64
213Microcephaly 27, primary, autosomal dominantEnrichmentLMNB21.64
214Spastic paraplegia 62, autosomal recessiveEnrichmentERLIN11.64
215Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxiaEnrichmentSPTAN11.64
216Developmental delay with or without epilepsyEnrichmentSPTAN11.64
217Baraitser-winter syndromeEnrichmentACTB1.64
218Lissencephaly due to tuba1a mutationEnrichmentTUBA1A1.64
219Dcx-related disordersEnrichmentDCX1.64
220Adult-onset distal myopathy due to vcp mutationEnrichmentVCP1.64
221Mandibuloacral dysplasiaEnrichmentLMNA1.64
222Atypical progressive supranuclear palsy syndromeEnrichmentMAPT1.64
223Atrioventricular blockEnrichmentLMNA1.64
224Neuronopathy, distal hereditary motor, autosomal dominant 11EnrichmentSPTAN11.64
225Female-restricted syndromic x-linked intellectual disability 99EnrichmentUSP9X1.64
226Autosomal dominant charcot-marie-tooth disease type 2mEnrichmentDNM21.64
227Charcot-marie-tooth disease type 2b5EnrichmentNEFL1.64
228Flnb-related disordersEnrichmentFLNB1.64
229Spastic paraplegia 18a, autosomal dominantEnrichmentERLIN21.64
230Breast lobular carcinomaEnrichmentCDH11.64
231Autosomal dominant nonsyndromic hearing loss 17EnrichmentMYH91.64
232Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndromeEnrichmentMYO61.64
233Focal palmoplantar keratodermaEnrichmentKRT6C1.64
234Immune dysregulation, neurodevelopmental defects, and colitisEnrichmentITGAV1.64
235Zebra body myopathyEnrichmentACTA11.64
236Infantile lad-like disease due to rac2 deficiencyEnrichmentRAC21.64
237Acoustic neuromaEnrichmentNF21.64
238Congenital smooth muscle hamartomaEnrichmentACTB1.64
239Capillary leak syndromeEnrichmentTLN11.64
240Dyt1 early-onset isolated dystoniaEnrichmentTOR1A1.64
241Reticular dysgenesis-like severe combined immunodeficiencyEnrichmentRAC21.64
242Nocarh syndromeEnrichmentCDC421.64
243Developmental malformations-deafness-dystonia syndromeEnrichmentACTB1.64
244Qualitative or quantitative defects of plectinEnrichmentPLEC1.64
245Autosomal dominant nonsyndromic hearing loss 22EnrichmentMYO61.64
246Infection-induced acute-onset axonal neuropathyEnrichmentRCC11.64
247Autosomal recessive epidermolytic ichthyosisEnrichmentKRT101.64
248Distal monosomy 12pEnrichmentERC11.64
249Lmna-related cardiocutaneous progeria syndromeEnrichmentLMNA1.64
250X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndromeEnrichmentFLNA1.64
251Recessive intellectual disability-motor dysfunction-multiple joint contractures syndromeEnrichmentERLIN21.64
252Lissencephaly due to lis1 mutationEnrichmentPAFAH1B11.64
253Spastic paraplegia 3aEnrichmentATL11.64
254Actin-accumulation myopathyEnrichmentACTA11.64
255Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC11.64
256Autosomal semi-dominant severe lipodystrophic laminopathyEnrichmentLMNA1.64
257Premature agingEnrichmentVIM1.64
258Myopathic intestinal pseudoobstructionEnrichmentACTG21.64
259Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndromeEnrichmentRAC21.64
260Encephalopathy due to mitochondrial and peroxisomal fission defectEnrichmentDNM1L1.64
261Actg2 visceral myopathyEnrichmentACTG21.64
262Autosomal recessive axonal hereditary motor and sensory neuropathyEnrichmentLMNA1.64
263LaminopathyEnrichmentLMNA1.64
264ThrombocytopeniaEnrichmentACTN1, ITGA2B, MYH9, WAS1.63
265Frontotemporal dementia 1EnrichmentDCTN1, MAPT1.61
266Autosomal dominant non-syndromic intellectual disabilityEnrichmentCLTC, DPYSL2, PPP3CA, RAB11A1.58
267Cardiac conduction defectEnrichmentFLNC, LMNA1.53
268MeningiomaEnrichmentBAP1, NF21.53
269Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentJUP, LMNA1.53
270Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentJUP, LMNA1.53
271Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG1, MYH14, MYH9, MYO61.52
272Rare genetic deafnessEnrichmentACTG1, DIAPH1, MYH9, MYO6, RDX1.47
273Neural tube defectsEnrichmentITGB1, SCRIB1.47
274Alzheimer's diseaseEnrichmentMAPT, VCP1.47
275Undetermined early-onset epileptic encephalopathyEnrichmentCLTC, DNM1, LIMK1, PPP3CA1.42
276Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentJUP, LMNA1.41
277Genetic steroid-resistant nephrotic syndromeEnrichmentACTN4, ARHGDIA, CD2AP1.38
278Leukocyte adhesion deficiency, type iEnrichmentITGB21.35
279Epidermolysis bullosa simplex 5a, ogna typeEnrichmentPLEC1.35
280Ichthyosis hystrix, lambert typeEnrichmentKRT101.35
281Cardiomyopathy, familial restrictive, 1EnrichmentTNNI31.35
282Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephalyEnrichmentCEP551.35
283Epidermolysis bullosa simplex 5b, with muscular dystrophyEnrichmentPLEC1.35
284Visceral neuropathy, familial, 1, autosomal recessiveEnrichmentFLNA1.35
285Mandibuloacral dysplasia with type a lipodystrophyEnrichmentLMNA1.35
286Intellectual developmental disorder, x-linked, syndromic, raymond typeEnrichmentSPTAN11.35
287Neutropenia, severe congenital, x-linkedEnrichmentWAS1.35
288Otopalatodigital syndrome, type iiEnrichmentFLNA1.35
289Melnick-needles syndromeEnrichmentFLNA1.35
290Cataract 35EnrichmentMYH91.35
291Wiskott-aldrich syndromeEnrichmentWAS1.35
292Frontometaphyseal dysplasia 1EnrichmentFLNA1.35
293Myopathy, x-linked, with postural muscle atrophyEnrichmentEMD1.35
294Epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessiveEnrichmentKRT51.35
295Amyotrophic lateral sclerosis 6 with or without frontotemporal dementiaEnrichmentVCP1.35
296Aortic aneurysm, familial thoracic 2EnrichmentACTA21.35
297Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitisEnrichmentCLDN11.35
298Cardiomyopathy, dilated, 1rEnrichmentACTC11.35
299Lipomatosis, multiple symmetric, with or without axonal peripheral neuropathyEnrichmentLMNB21.35
300Schwannomatosis 1EnrichmentNF21.35
301Pick disease of brainEnrichmentMAPT1.35
302Epidermolysis bullosa simplex 2e, with migratory circinate erythemaEnrichmentKRT51.35
303Heart-hand syndrome, slovenian typeEnrichmentLMNA1.35
304Deafness, autosomal dominant 20EnrichmentACTG11.35
305Cardiomyopathy, familial hypertrophic, 11EnrichmentACTC11.35
306Smooth muscle dysfunction syndromeEnrichmentACTA21.35
307Charcot-marie-tooth disease, axonal, type 2b1EnrichmentLMNA1.35
308Melanoma, cutaneous malignant 6EnrichmentKLC11.35
309Primary lateral sclerosis, juvenileEnrichmentERLIN21.35
310Leukocyte adhesion deficiency, type iiiEnrichmentITGB21.35
311Lissencephaly 1EnrichmentPAFAH1B11.35
312Aortic aneurysm, familial thoracic 6EnrichmentACTA21.35
313Baraitser-winter syndrome 2EnrichmentACTG11.35
314Cardiomyopathy, dilated, with hypergonadotropic hypogonadismEnrichmentLMNA1.35
315Hallermann-streiff syndromeEnrichmentGJA11.35
316Cardiomyopathy, dilated, 1iEnrichmentDES1.35
317Cardiomyopathy, familial hypertrophic, 25EnrichmentTNNI31.35
318Moyamoya disease 5EnrichmentACTA21.35
319Cardiomyopathy, dilated, 1ddEnrichmentTNNT21.35
320Diarrhea 5, with tufting enteropathy, congenitalEnrichmentEPCAM1.35
321Muscular dystrophy, limb-girdle, autosomal recessive 3EnrichmentTUBA1A1.35
322Muscular dystrophy, limb-girdle, autosomal recessive 17EnrichmentPLEC1.35
323Syndactyly, type iiiEnrichmentGJA11.35
324Syndactyly, type vEnrichmentGJA11.35
325Cardiomyopathy, dilated, 1ffEnrichmentTNNI31.35
326Atrial septal defect 5EnrichmentACTC11.35
327Encephalopathy, acute, infection-induced 10EnrichmentTPT11.35
328Cortical dysplasia, complex, with other brain malformations 4EnrichmentTUBG11.35
329Sinoatrial node diseaseEnrichmentCORO1A1.35
330Genitourinary and/or brain malformation syndromeEnrichmentPPP1R12A1.35
331Restrictive dermopathy 2EnrichmentLMNA1.35
332Blepharocheilodontic syndrome 2EnrichmentCTNND11.35
333Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.35
334Emery-dreifuss muscular dystrophy 3, autosomal recessiveEnrichmentLMNA1.35
335Charcot-marie-tooth disease, axonal, type 2ddEnrichmentATP1A11.35
336Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessiveEnrichmentKRT51.35
337Cardiac valvular dysplasia, x-linkedEnrichmentFLNA1.35
338Epidermolytic hyperkeratosis 2a, autosomal dominantEnrichmentKRT101.35
339Immunodeficiency 66EnrichmentMRTFA1.35
340Autosomal recessive limb-girdle muscular dystrophy type 2dEnrichmentTUBA1A1.35
341Craniometaphyseal dysplasiaEnrichmentGJA11.35
342Lissencephaly 3EnrichmentTUBA1A1.35
343Autosomal recessive limb-girdle muscular dystrophy type 2qEnrichmentPLEC1.35
344Progressive familial heart blockEnrichmentDES1.35
345Cataract 30EnrichmentVIM1.35
346Cardiovascular system diseaseEnrichmentFLNC1.35
347Lipodystrophy, familial partial, type 1EnrichmentLMNA1.35
348Developmental and epileptic encephalopathy 96EnrichmentNSF1.35
349Macrocephaly, dysmorphic facies, and psychomotor retardationEnrichmentERC11.35
350Hypomagnesemia, seizures, and impaired intellectual development 2EnrichmentATP1A11.35
351Epidermolytic acanthomaEnrichmentKRT101.35
352Ocular melanomaEnrichmentBAP11.35
353Cortical dysplasia, complex, with other brain malformations 1EnrichmentTUBB31.35
354Intellectual developmental disorder, autosomal dominant 60, with seizuresEnrichmentAP2M11.35
355Pseudosarcomatous fibromatosisEnrichmentMYH91.35
356Immune system diseaseEnrichmentCDC421.35
357Autosomal dominant primary microcephalyEnrichmentLMNB11.35
358Megacystis-microcolon-intestinal hypoperistalsis syndrome 4EnrichmentMYL91.35
359Kury-isidor syndromeEnrichmentBAP11.35
360Epidermolysis bullosa simplex 2a, generalized severeEnrichmentKRT51.35
361Multiple benign circumferential skin creases on limbsEnrichmentTUBB1.35
362Combined deficiency of factor v and factor viiiEnrichmentLMAN11.35
363Distal hereditary motor neuropathy type 7EnrichmentDCTN11.35
364Familial partial lipodystrophyEnrichmentLMNA1.35
365Charcot-marie-tooth disease type 2b1EnrichmentLMNA1.35
366Continuous spikes and waves during sleepEnrichmentTUBA1A1.35
367X-linked emery-dreifuss muscular dystrophyEnrichmentEMD1.35
368Intestinal obstructionEnrichmentACTG21.35
369Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)EnrichmentMRTFA1.35
370Spastic paraplegia-paget disease of bone syndromeEnrichmentVCP1.35
371Wolff-parkinson-white syndromeEnrichmentJUP, TNNT21.30
372Fetal akinesia deformation sequence 1EnrichmentACTA1, NUP88, TUBA1A1.29
373Alzheimer disease, familial, 1EnrichmentMAPT, VCP1.25
374Hypertension, essentialEnrichmentADD1, ATP1B11.25
375Prune belly syndromeEnrichmentFLNA1.18
376Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentMYH91.18
377Larsen syndromeEnrichmentFLNB1.18
378Mesothelioma, malignantEnrichmentBAP11.18
379Arterial tortuosity syndromeEnrichmentFLNA1.18
380Bleeding disorder, platelet-type, 16EnrichmentITGA2B1.18
381Nail disorder, nonsyndromic congenital, 4EnrichmentKRT171.18
382Periventricular nodular heterotopia 1EnrichmentFLNA1.18
383Factor v and factor viii, combined deficiency of, 1EnrichmentLMAN11.18
384Myopathy, myofibrillar, 1EnrichmentDES1.18
385Restrictive dermopathy 1EnrichmentLMNA1.18
386Myopathy, myofibrillar, 5EnrichmentFLNC1.18
387Myopathy, centronuclear, x-linkedEnrichmentDNM21.18
388Spondylocarpotarsal synostosis syndromeEnrichmentFLNB1.18
389Ichthyosis with confettiEnrichmentKRT101.18
390Leber congenital amaurosis 13EnrichmentZFYVE261.18
391Epidermolysis bullosa, lethal acantholyticEnrichmentJUP1.18
392Congenital short bowel syndromeEnrichmentFLNA1.18
393Ichthyosis, annular epidermolytic, 1EnrichmentKRT101.18
394Adams-oliver syndrome 1EnrichmentARHGAP311.18
395Lipodystrophy, familial partial, type 2EnrichmentLMNA1.18
396Miller-dieker lissencephaly syndromeEnrichmentPAFAH1B11.18
397Myopathy, distal, 4EnrichmentFLNC1.18
398Muscular dystrophy, congenital, lmna-relatedEnrichmentLMNA1.18
399Chromosome 17p13.3, centromeric, duplication syndromeEnrichmentPAFAH1B11.18
400Tumor predisposition syndrome 1EnrichmentBAP11.18
401Immunodeficiency 8 with lymphoproliferationEnrichmentCORO1A1.18
402Short-rib thoracic dysplasia 11 with or without polydactylyEnrichmentSPTAN11.18
403Intellectual developmental disorder, autosomal dominant 56EnrichmentCLTC1.18
404Developmental and epileptic encephalopathy 31bEnrichmentDNM11.18
405Epidermolysis bullosa simplex 2b, generalized intermediateEnrichmentKRT51.18
406Epidermolytic hyperkeratosis 2b, autosomal recessiveEnrichmentKRT101.18
407Coronin-1a deficiencyEnrichmentCORO1A1.18
408Inclusion body myopathy with paget disease of bone and frontotemporal dementiaEnrichmentVCP1.18
409Torsion dystonia 1EnrichmentTOR1A1.18
410Epidermolysis bullosa simplex 5d, generalized intermediate, autosomal recessiveEnrichmentPLEC1.18
411Frontometaphyseal dysplasiaEnrichmentFLNA1.18
412Cellular ependymomaEnrichmentNF21.18
413Tanycytic ependymomaEnrichmentNF21.18
414Papillary ependymomaEnrichmentNF21.18
415Epidermolysis bullosa simplex 2c, localizedEnrichmentKRT51.18
416Bap1 tumor predisposition syndromeEnrichmentBAP11.18
417Restrictive dermopathyEnrichmentLMNA1.18
418Spindle cell sarcomaEnrichmentNF21.18
419Clear cell ependymomaEnrichmentNF21.18
420Annular epidermolytic ichthyosisEnrichmentKRT101.18
421Autosomal dominant optic atrophy, classic formEnrichmentDNM1L1.18
422Hyperpigmentation of the skinEnrichmentUSP9X1.18
423Autosomal dominant epidermolytic ichthyosisEnrichmentKRT101.18
424West syndromeEnrichmentDNM1, SPTAN1, TUBA1A1.11
425Familial thoracic aortic aneurysm and aortic dissectionEnrichmentACTA2, FLNA, PRKG11.11
426Centronuclear myopathyEnrichmentACTA1, DNM21.09
427Epidermolysis bullosa simplex 1b, generalized intermediateEnrichmentKRT51.06
428Hutchinson-gilford progeria syndromeEnrichmentLMNA1.06
429Dowling-degos disease 1EnrichmentKRT51.06
430Diffuse gastric and lobular breast cancer syndromeEnrichmentCDH11.06
431FucosidosisEnrichmentDCX1.06
432Nemaline myopathy 2EnrichmentACTA11.06
433Megacystis-microcolon-intestinal hypoperistalsis syndrome 1EnrichmentACTG21.06
434Autoimmune lymphoproliferative syndromeEnrichmentACTA21.06
435Microtia-anotiaEnrichmentLMNA1.06
436Epidermolysis bullosa simplex 5c, with pyloric atresiaEnrichmentPLEC1.06
437Aminoacylase 1 deficiencyEnrichmentACTB1.06
438Cardiomyopathy, familial hypertrophic, 26EnrichmentFLNC1.06
439Congenital generalized lipodystrophyEnrichmentCAVIN11.06
440Macular dystrophy with or without cone dysfunctionEnrichmentZFYVE261.06
441Dowling-degos diseaseEnrichmentKRT51.06
442Epidermolysis bullosa simplex generalized typeEnrichmentKRT51.06
443TubulinopathyEnrichmentTUBA1A1.06
444Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1EnrichmentCLTC1.06
445Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCDC421.06
446Epidermolytic nevusEnrichmentKRT101.06
447Epidermolytic hyperkeratosisEnrichmentKRT101.06
448Charcot-marie-tooth hereditary neuropathyEnrichmentSPTAN11.06
449Knobloch syndromeEnrichmentPAK21.06
450Full schwannomatosisEnrichmentNF21.06
451Intermediate nemaline myopathyEnrichmentACTA11.06
452Benign ependymomaEnrichmentNF21.06
453Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.06
454Body mass index quantitative trait locus 11EnrichmentDIXDC1, DNM1L, MYH90.98
455Hemifacial hyperplasiaEnrichmentFLNC0.96
456Epidermolytic hyperkeratosis 1EnrichmentKRT100.96
457Dementia, lewy bodyEnrichmentVCP0.96
458Visceral myopathy 1EnrichmentACTG20.96
459Epidermolysis bullosa simplex 1c, localizedEnrichmentKRT50.96
460Smith-magenis syndromeEnrichmentFLII0.96
461Multiple endocrine neoplasia, type iiaEnrichmentKIF1B0.96
462Congenital myopathy 3 with rigid spineEnrichmentACTA10.96
463Deafness, autosomal recessive 63EnrichmentMYH90.96
464Knobloch syndrome 1EnrichmentPAK20.96
465Mosaic variegated aneuploidy syndrome 1EnrichmentPAK60.96
466Developmental and epileptic encephalopathy 31aEnrichmentDNM10.96
467Heart conduction diseaseEnrichmentFLNC0.96
468Congenital ptosisEnrichmentMYH100.96
469Autosomal recessive limb-girdle muscular dystrophy type 2bEnrichmentLMNA0.96
470Epidermolysis bullosaEnrichmentKRT50.96
471Aplasia cutis congenitaEnrichmentPLEC0.96
472Cleft upper lipEnrichmentGJA10.96
473DementiaEnrichmentMAPT0.96
474Coloboma of choroid and retinaEnrichmentACTG10.96
475Genetic motor neuron diseaseEnrichmentDCTN10.96
476Diffuse cutaneous systemic sclerosisEnrichmentCAV10.96
477Severe congenital nemaline myopathyEnrichmentACTA10.96
478Tetralogy of fallotEnrichmentFLNC, TPM10.93
479Auditory neuropathyEnrichmentDIAPH1, NEFL0.93
480Spastic ataxiaEnrichmentFLNC, SPTAN1, TUBB30.92
481Atrial septal defect 1EnrichmentTPM10.89
482Melanoma, uvealEnrichmentBAP10.89
483Dystonia 11, myoclonicEnrichmentTOR1A0.89
484Myopathy, centronuclear, 1EnrichmentDNM20.89
485Emery-dreifuss muscular dystrophy 2, autosomal dominantEnrichmentLMNA0.89
486Hemihyperplasia, isolatedEnrichmentRHOA0.89
487Hemangioma, capillary infantileEnrichmentMYH90.89
488Pendred syndromeEnrichmentDIAPH10.89
489Anterior segment dysgenesis 5EnrichmentARHGAP350.89
490Inflammatory myofibroblastic tumorEnrichmentCLTC0.89
491Intestinal pseudo-obstructionEnrichmentACTG20.89
492Patent ductus arteriosusEnrichmentFLNA0.89
493Clear cell renal cell carcinomaEnrichmentBAP10.89
494Early myoclonic encephalopathyEnrichmentTUBA1A0.89
495Limited sclerodermaEnrichmentCAV10.89
496Fetomaternal alloimmune thrombocytopenia 1EnrichmentITGA2B0.89
497Inherited arrhythmogenic cardiomyopathyEnrichmentFLNC0.89
498Typical nemaline myopathyEnrichmentACTA10.89
499Differentiated thyroid carcinomaEnrichmentERC1, PCM10.85
500Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentGJA1, MYH9, MYO6, RDX0.84
501Bethlem myopathy 1aEnrichmentLMNA0.83
502Polymicrogyria, bilateral perisylvian, x-linkedEnrichmentTUBA1A0.83
503Glanzmann thrombasthenia 1EnrichmentITGA2B0.83
504Noonan syndrome 3EnrichmentCLTC0.83
505Adams-oliver syndromeEnrichmentARHGAP310.83
506Hereditary sensory and autonomic neuropathy type 1EnrichmentATL10.83
507Renal cell carcinoma with mit translocationsEnrichmentCLTC0.83
508Focal epilepsyEnrichmentSPTAN10.83
509Vesicoureteral refluxEnrichmentAFAP1L20.83
510Childhood-onset nemaline myopathyEnrichmentACTA10.83
511Complex neurodevelopmental disorderEnrichmentBAP1, MYH10, PAK3, RAC3, RALA0.82
512Connective tissue diseaseEnrichmentACTA2, FLNB0.79
513Peripheral nervous system diseaseEnrichmentLMNA, NEFL0.79
514NeuropathyEnrichmentLMNA, NEFL0.79
515Glioma susceptibility 1EnrichmentBAP10.77
516Erythrokeratodermia variabilis et progressiva 1EnrichmentGJA10.77
517Fanconi anemia, complementation group cEnrichmentFLNA0.77
518Ewing sarcomaEnrichmentBAP10.77
519Lennox-gastaut syndromeEnrichmentDNM10.77
520CryptorchidismEnrichmentTUBA1A0.77
521Congenital muscular dystrophyEnrichmentLMNA0.77
522Mosaic variegated aneuploidy syndromeEnrichmentPAK60.77
523NeuroblastomaEnrichmentKIF1B0.77
524Hypoplastic left heart syndromeEnrichmentGJA10.77
525Male infertility due to globozoospermiaEnrichmentGOPC0.77
526Severe combined immunodeficiencyEnrichmentCORO1A, STK40.76
527Tracheoesophageal fistula with or without esophageal atresiaEnrichmentADD10.73
528Cryptorchidism, unilateral or bilateralEnrichmentTUBA1A0.73
529Arrhythmogenic right ventricular dysplasia, familial, 9EnrichmentLMNA0.73
530Myoclonic-atonic epilepsyEnrichmentAP2M10.73
531Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC10.73
532Bilateral perisylvian polymicrogyriaEnrichmentTUBA1A0.73
533Colonic benign neoplasmEnrichmentEPCAM0.73
534Juvenile amyotrophic lateral sclerosisEnrichmentERLIN10.73
535Non-syndromic x-linked intellectual disabilityEnrichmentARHGEF6, USP9X0.71
536Developmental and epileptic encephalopathyEnrichmentSEC24C, SPTAN10.71
537Amyotrophic lateral sclerosis 1EnrichmentDCTN10.69
538Cat eye syndromeEnrichmentACTG10.69
539Cataract 30, multiple typesEnrichmentVIM0.69
540Lynch syndrome 1EnrichmentEPCAM0.69
541Frontotemporal dementia and/or amyotrophic lateral sclerosis 1EnrichmentVCP0.69
542Peters-plus syndromeEnrichmentARHGAP350.69
543Neurodegeneration with brain iron accumulationEnrichmentREPS10.69
544Isolated tracheo-esophageal fistulaEnrichmentADD10.69
545Congenital nervous system abnormalityEnrichmentATL1, DCX, ERLIN2, TUBA1A0.66
546Nervous system diseaseEnrichmentATL1, DCX, ERLIN2, TUBA1A0.66
547Cerebral palsyEnrichmentARHGAP31, TUBA1A0.65
548Meningioma, familialEnrichmentNF20.65
549Combined immunodeficiencyEnrichmentTFRC0.65
550Combined t cell and b cell immunodeficiencyEnrichmentTFRC0.65
551Heritable pulmonary arterial hypertensionEnrichmentCAV10.65
552Combined t and b cell immunodeficiencyEnrichmentTFRC0.65
553Muscular dystrophy, limb-girdle, autosomal recessive 2EnrichmentLMNA0.62
554Digeorge syndromeEnrichmentSEC24C0.62
555Juvenile myelomonocytic leukemiaEnrichmentRRAS0.62
556Breast cancerEnrichmentCDH1, EPCAM, KLC10.62
557Distal arthrogryposisEnrichmentACTA1, ACTC10.61
558Gastric cancerEnrichmentCDH1, EPCAM0.59
559Microphthalmia/coloboma 12EnrichmentMYH100.59
560Chromosome 1p36 deletion syndromeEnrichmentPDPN0.59
561Stereotypic movement disorderEnrichmentDNM10.59
562Hereditary breast carcinomaEnrichmentCDH1, EPCAM0.58
563Multiple sclerosisEnrichmentPLEC0.56
564Lung cancer susceptibility 3EnrichmentACTA20.56
565Periventricular nodular heterotopiaEnrichmentFLNA0.56
566Cox deficiency, benign infantile mitochondrial myopathyEnrichmentCOX4I10.56
567Cleft lip/palateEnrichmentCDH10.56
568Coloboma of maculaEnrichmentMYH100.54
569Renal cell carcinoma, nonpapillaryEnrichmentBAP10.54
570Congenital myopathy 4a, autosomal dominantEnrichmentACTA10.54
571Corpus callosum, agenesis ofEnrichmentTUBA1A0.54
572Lynch syndromeEnrichmentEPCAM0.54
573Isolated corpus callosum agenesisEnrichmentTUBA1A0.54
574Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentTUBA1A0.54
575MicrocephalyEnrichmentACTB, ACTG1, DIAPH1, PAK30.51
576Hydrocephalus, congenital, 1EnrichmentTUBB0.51
577HypertensionEnrichmentMYH90.51
578Isolated congenital microcephalyEnrichmentRAB11A0.51
579Colorectal cancerEnrichmentCDH1, EPCAM, PTPN120.50
580Melanoma, cutaneous malignant 1EnrichmentBAP10.49
581Cleft palate, isolatedEnrichmentFLNA0.49
582Dandy-walker syndromeEnrichmentTUBA1A0.49
583Sudden infant death syndromeEnrichmentTNNI30.49
584Inherited cancer-predisposing syndromeEnrichmentBAP1, CDH1, EPCAM, NF20.45
585Esophageal atresia/tracheoesophageal fistulaEnrichmentADD10.45
586Congenital myopathyEnrichmentACTA10.45
587Williams-beuren syndromeEnrichmentLIMK10.43
588Maturity-onset diabetes of the youngEnrichmentAPPL10.43
589Autosomal recessive non-syndromic intellectual disabilityEnrichmentCLIP1, EZR0.42
590Endometrial cancerEnrichmentCDH10.42
591Hereditary paraganglioma-pheochromocytoma syndromesEnrichmentKIF1B0.42
592Mitochondrial complex iv deficiency, nuclear type 1EnrichmentCOX4I10.40
593Multisystem inflammatory syndrome in childrenEnrichmentRAB27A0.40
594Noonan syndrome 1EnrichmentRRAS0.39
595Ear malformationEnrichmentMYO60.37
596Parkinson disease, late-onsetEnrichmentMAPT0.37
597Autoinflammatory diseaseEnrichmentRAB27A0.37
598Muscular dystrophyEnrichmentLMNA0.37
599Pancreatic cancerEnrichmentPALLD0.36
600Jeune thoracic dystrophyEnrichmentSPTAN10.36
601Hydrops fetalis, nonimmuneEnrichmentACTA10.35
602Brugada syndromeEnrichmentLMNA0.35
603Asphyxiating thoracic dystrophyEnrichmentSPTAN10.32
604Hirschsprung disease 1EnrichmentNUP980.31
605Prostate cancerEnrichmentCDH10.31
606Severe covid-19EnrichmentITGAV0.31
607Long qt syndromeEnrichmentLMNA0.29
608Non-immune hydrops fetalisEnrichmentACTA10.29
609Lung cancerEnrichmentACTA20.28
610Short-rib thoracic dysplasia 1 with or without polydactylyEnrichmentSPTAN10.27
611Male infertilityEnrichmentCLDN20.27
612CakutEnrichmentACTG10.27
613DystoniaEnrichmentTOR1A0.26
614Eye diseaseEnrichmentZFYVE260.26
615Leukemia, acute myeloidEnrichmentLPP0.22
616EpilepsyEnrichmentDIAPH10.22
617Benign epilepsy with centrotemporal spikesEnrichmentSPTAN10.21
618Centralopathic epilepsyEnrichmentSPTAN10.20
619Sensorineural hearing lossEnrichmentNEFL0.17
620Ovarian cancerEnrichmentCDH1, KIF1B0.17
621HypertelorismEnrichmentMYH100.16
622Myeloma, multipleEnrichmentBAP10.14
623SchizophreniaEnrichmentLPP0.13
624Deafness, autosomal recessiveEnrichmentMYH90.12
625Autosomal recessive nonsyndromic deafnessEnrichmentMYH90.11
626Cone-rod dystrophy 2EnrichmentADAM90.10
627Mitochondrial diseaseEnrichmentDNM1L0.06
628Leber plus diseaseEnrichmentZFYVE260.05
629Autism spectrum disorderEnrichmentMARK20.04
630Retinitis pigmentosaEnrichmentADAM9, ZFYVE260.02
631Hereditary retinal dystrophyEnrichmentADAM9, ZFYVE260.00
632Fundus dystrophyEnrichmentADAM9, ZFYVE260.00

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