EML4 and NUDC in mitotic spindle formation

Pathway network for the EML4 and NUDC in mitotic spindle formation SuperPath

Sources:
  • Reactome

Pathways in the EML4 and NUDC in mitotic spindle formation SuperPath

#NameSourceGenes
1EML4 and NUDC in mitotic spindle formationReactome
2Mitotic PrometaphaseReactome
3RHO GTPases Activate ForminsReactome
4Resolution of Sister Chromatid CohesionReactome
5Mitotic Spindle CheckpointReactome
6Amplification of signal from unattached kinetochores via a MAD2 inhibitory signalReactome
7Amplification of signal from the kinetochoresReactome

Gene overlap in member pathways for EML4 and NUDC in mitotic spindle formation SuperPath

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

Disorders associated with EML4 and NUDC in mitotic spindle formation SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1LissencephalyEnrichmentCPAP, DYNC1H1, MZT2B, PAFAH1B1, TUBA1A, TUBA3E, TUBB, TUBB2B, TUBB3, TUBG111.22
2Primary autosomal recessive microcephalyEnrichmentCDK5RAP2, CENPE, CEP135, CEP152, CEP63, CPAP, KNL1, NUP377.72
3Seckel syndromeEnrichmentCENPE, CEP152, CPAP, NUP85, PCNT, PLK47.51
4Mosaic variegated aneuploidy syndromeEnrichmentBUB1, BUB1B, BUB3, CEP57, MAD1L17.38
5Tubulinopathy-associated dysgyriaEnrichmentTUBA1A, TUBB2B, TUBB36.18
6Cornelia de lange syndrome 1EnrichmentHDAC8, RAD21, SMC1A, SMC36.02
7Cornelia de lange syndromeEnrichmentHDAC8, RAD21, SMC1A, SMC36.02
8TubulinopathyEnrichmentTUBA1A, TUBB2A, TUBB2B5.58
9Genetic steroid-resistant nephrotic syndromeEnrichmentNUP107, NUP133, NUP160, NUP37, NUP855.42
10Congenital fibrosis of the extraocular musclesEnrichmentTUBA1A, TUBB2B, TUBB34.89
11Autosomal recessive chorioretinopathy-microcephaly syndromeEnrichmentPLK4, TUBGCP4, TUBGCP64.86
12Mosaic variegated aneuploidy syndrome 1EnrichmentBUB1B, CEP57, MAD1L14.47
13Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG13.96
14Keratoconus 9EnrichmentMZT2A, TUBA3D3.64
15Lissencephaly 3EnrichmentCPAP, TUBA1A3.64
16MicrocephalyEnrichmentCDK5RAP2, CPAP, DYNC1H1, HDAC8, NUF2, SMC1A, TUBB4A, YWHAG3.24
17Robinow syndrome, autosomal dominant 1EnrichmentDVL1, DVL33.19
18Autosomal dominant robinow syndromeEnrichmentDVL1, DVL33.19
19Seckel syndrome 5EnrichmentCEP152, CPAP3.17
20Miller-dieker lissencephaly syndromeEnrichmentPAFAH1B1, YWHAE3.17
21Chromosome 17p13.3, centromeric, duplication syndromeEnrichmentPAFAH1B1, YWHAE3.17
22Senior-loken syndrome 1EnrichmentCEP164, CEP290, SDCCAG83.05
23Robinow syndrome, autosomal recessive 1EnrichmentDVL1, DVL32.97
24Robinow syndrome, autosomal dominant 2EnrichmentDVL1, DVL32.97
25Wiedemann-steiner syndromeEnrichmentSMC1A, SMC32.88
26Polymicrogyria, bilateral perisylvian, x-linkedEnrichmentTUBA1A, TUBB2B2.81
27Autosomal recessive robinow syndromeEnrichmentDVL1, DVL32.80
28Isolated congenital microcephalyEnrichmentCPAP, MZT2B, TUBA3E2.78
29Galloway-mowat syndromeEnrichmentNUP107, NUP1332.67
30Chromosome 15q11.2 deletion syndromeEnrichmentPAFAH1B1, TUBG12.65
31Fanconi anemia, complementation group cEnrichmentHDAC8, TAOK12.62
32Bilateral perisylvian polymicrogyriaEnrichmentTUBA1A, TUBB2B2.58
33Autosomal dominant macrothrombocytopeniaEnrichmentTUBA8, TUBB12.48
34Cortical dysplasia, complex, with other brain malformations 3EnrichmentKIF2A2.15
35Premature chromatid separation traitEnrichmentBUB1B2.15
36Developmental delay with or without intellectual impairment or behavioral abnormalitiesEnrichmentTAOK12.15
37Nephrotic syndrome, type 19EnrichmentNUP1602.15
38Oocyte/zygote/embryo maturation arrest 14EnrichmentCDC202.15
39Houge-janssens syndrome 4EnrichmentPPP2R5C2.15
40Galloway-mowat syndrome 8EnrichmentNUP1332.15
41Houge-janssens syndrome 2EnrichmentPPP2R1A2.15
42Microcephaly 4, primary, autosomal recessiveEnrichmentKNL12.15
43Microcephaly 24, primary, autosomal recessiveEnrichmentNUP372.15
44MicrohydranencephalyEnrichmentNDE12.15
45Galloway-mowat syndrome 7EnrichmentNUP1072.15
46Lissencephaly 4 with microcephalyEnrichmentNDE12.15
47Meckel syndrome, type 10EnrichmentB9D22.15
48Nephrotic syndrome, type 11EnrichmentNUP1072.15
49Dync1h1-related disordersEnrichmentDYNC1H12.15
50Microcephaly 13, primary, autosomal recessiveEnrichmentCENPE2.15
51Ovarian dysgenesis 6EnrichmentNUP1072.15
52Short stature and microcephaly with genital anomaliesEnrichmentCENPT2.15
53Nephrotic syndrome, type 18EnrichmentNUP1332.15
54Neurodevelopmental disorder with microcephaly and structural brain anomaliesEnrichmentDYNC1I22.15
55HydranencephalyEnrichmentNDE12.15
56Microcephaly 30, primary, autosomal recessiveEnrichmentBUB12.15
57Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predispositionEnrichmentMAD1L12.15
58Nde1-related microhydranencephalyEnrichmentNDE12.15
59Familial acute necrotizing encephalopathyEnrichmentRANBP22.15
60Lissencephaly due to lis1 mutationEnrichmentPAFAH1B12.15
61Ppp2r1a-related neurodevelopmental disorderEnrichmentPPP2R1A2.15
62Ferguson-bonni neurodevelopmental syndromeEnrichmentANAPC72.08
63Rothmund-thomson syndrome, type 1EnrichmentANAPC12.08
64Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvementEnrichmentTUBB32.06
65Macrothrombocytopenia, isolated, 1, autosomal dominantEnrichmentTUBB12.06
66Arthrogryposis, perthes disease, and upward gaze palsyEnrichmentNEK92.06
67Nevus comedonicusEnrichmentNEK92.06
68Leber congenital amaurosis with early-onset deafnessEnrichmentTUBB4B2.06
69Oocyte/zygote/embryo maturation arrest 24EnrichmentTUBA1C2.06
70Cortical dysplasia, complex, with other brain malformations 7EnrichmentTUBB2B2.06
71Oocyte/zygote/embryo maturation arrest 23EnrichmentTUBA4A2.06
72Frontotemporal dementia and/or amyotrophic lateral sclerosis 9EnrichmentTUBA4A2.06
73Lethal congenital contracture syndrome 10EnrichmentNEK92.06
74Facial palsy, congenital, with ptosis and velopharyngeal dysfunctionEnrichmentTUBB62.06
75Macrothrombocytopenia, isolated, 2, autosomal dominantEnrichmentTUBA82.06
76Lissencephaly due to tuba1a mutationEnrichmentTUBA1A2.06
77Congenital myopathy 26EnrichmentTUBA4A2.06
78Spastic ataxia 11, autosomal dominantEnrichmentTUBA4A2.06
79Amyotrophic lateral sclerosis type 22EnrichmentTUBA4A2.06
80Polymicrogyria with optic nerve hypoplasiaEnrichmentTUBA82.06
81Developmental and epileptic encephalopathy 85 with or without midline brain defectsEnrichmentSMC1A2.02
82Holoprosencephaly 13, x-linkedEnrichmentSTAG22.02
83Cornelia de lange syndrome 3 with or without midline brain defectsEnrichmentSMC32.02
84Cornelia de lange syndrome 4 with or without midline brain defectsEnrichmentRAD212.02
85Cornelia de lange syndrome 5EnrichmentHDAC82.02
86Mullegama-klein-martinez syndromeEnrichmentSTAG22.02
87Intellectual developmental disorder, autosomal dominant 47EnrichmentSTAG12.02
88Mungan syndromeEnrichmentRAD212.02
89Xq25 microduplication syndromeEnrichmentSTAG22.02
90PolymicrogyriaEnrichmentDYNC1H1, OFD12.02
91Isolated joubert syndromeEnrichmentB9D2, CEP41, OFD11.98
92Baraitser-winter syndrome 1EnrichmentACTB1.98
93Deafness, autosomal dominant 1, with or without thrombocytopeniaEnrichmentDIAPH11.98
94Amyotrophic lateral sclerosis 18EnrichmentPFN11.98
95Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB1.98
96Premature ovarian failure 2aEnrichmentDIAPH21.98
97Auditory neuropathy, autosomal dominant 1EnrichmentDIAPH31.98
98Becker nevus syndromeEnrichmentACTB1.98
99Dystonia-deafness syndrome 1EnrichmentACTB1.98
100Thrombocytopenia 6EnrichmentSRC1.98
101Seizures, cortical blindness, and microcephaly syndromeEnrichmentDIAPH11.98
102Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA1.98
103Takenouchi-kosaki syndromeEnrichmentCDC421.98
104Diaph1-related sensorineural hearing loss-thrombocytopenia syndromeEnrichmentDIAPH11.98
105Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB1.98
106Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA1.98
107Baraitser-winter syndromeEnrichmentACTB1.98
108Congenital smooth muscle hamartomaEnrichmentACTB1.98
109Nocarh syndromeEnrichmentCDC421.98
110Developmental malformations-deafness-dystonia syndromeEnrichmentACTB1.98
111Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC11.98
112Semilobar holoprosencephalyEnrichmentSMC1A, STAG21.91
113Aortic aneurysm, familial thoracic 4EnrichmentNDE11.85
114Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominantEnrichmentDYNC1H11.85
115Microcephalic osteodysplastic primordial dwarfism, type iEnrichmentCLASP11.85
116Stromme syndromeEnrichmentCENPF1.85
117Lowry-wood syndromeEnrichmentCLASP11.85
118Nephronophthisis-like nephropathy 1EnrichmentRANGAP11.85
119MacroglossiaEnrichmentTAOK11.85
120Lissencephaly 1EnrichmentPAFAH1B11.85
121Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomaliesEnrichmentDYNC1I21.85
122Houge-janssens syndrome 1EnrichmentPPP2R5D1.85
123Roifman syndromeEnrichmentCLASP11.85
124Cortical dysplasia, complex, with other brain malformations 13EnrichmentDYNC1H11.85
125Megacystis-microcolon-intestinal hypoperistalsis syndrome 2EnrichmentNDE11.85
126Nephrotic syndrome, type 17EnrichmentNUP851.85
127Neurodevelopmental disorder with developmental delay and with or without motor or speech delayEnrichmentTAOK11.85
128Spinal muscular atrophy with lower extremity predominantEnrichmentDYNC1H11.85
129Body mass index quantitative trait locus 19EnrichmentCENPO1.85
130Charcot-marie-tooth disease, axonal, type 2oEnrichmentDYNC1H11.85
131Visceral myopathy 2EnrichmentNDE11.85
132Degenerative disc diseaseEnrichmentCENPP1.85
133Methylmalonic aciduria and homocystinuria, cbll typeEnrichmentCENPT1.85
134Rnu4atac-opathyEnrichmentCLASP11.85
135Chronic atrial and intestinal dysrhythmiaEnrichmentSGO11.85
136Diamond-blackfan anemia 17EnrichmentRPS271.85
137Houge-janssens syndrome 3EnrichmentPPP2CA1.85
138Primary mediastinal large b-cell lymphomaEnrichmentXPO11.85
139Acute necrotizing encephalopathy of childhoodEnrichmentRANBP21.85
140Skin creases, congenital symmetric circumferential, 1EnrichmentTUBB1.82
141Perry syndromeEnrichmentDCTN11.82
142Retinitis pigmentosa 23EnrichmentOFD11.82
143Simpson-golabi-behmel syndrome, type 2EnrichmentOFD11.82
144Microcephaly 3, primary, autosomal recessiveEnrichmentCDK5RAP21.82
145Microcephaly 9, primary, autosomal recessiveEnrichmentCEP1521.82
146Microcephaly and chorioretinopathy, autosomal recessive, 2EnrichmentPLK41.82
147Microcephaly 8, primary, autosomal recessiveEnrichmentCEP1351.82
148Cortical dysplasia, complex, with other brain malformations 6EnrichmentTUBB1.82
149Advanced sleep phase syndrome, familial, 2EnrichmentCSNK1D1.82
150Cone-rod dystrophy and hearing loss 1EnrichmentCEP781.82
151Microcephalic osteodysplastic primordial dwarfism, type iiEnrichmentPCNT1.82
152Long qt syndrome 11EnrichmentAKAP91.82
153Neuronopathy, distal hereditary motor, autosomal dominant 14EnrichmentDCTN11.82
154Joubert syndrome 15EnrichmentCEP411.82
155Nephronophthisis 15EnrichmentCEP1641.82
156Retinitis pigmentosa 67EnrichmentNEK21.82
157Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA1.82
158Seckel syndrome 6EnrichmentCEP631.82
159Microcephaly and chorioretinopathy 2EnrichmentPLK41.82
160Developmental and epileptic encephalopathy 56EnrichmentYWHAG1.82
161Cardioacrofacial dysplasia 1EnrichmentPRKACA1.82
162Okur-chung neurodevelopmental syndromeEnrichmentCSNK2A11.82
163Microcephaly 23, primary, autosomal recessiveEnrichmentNCAPH1.82
164Craniodigital syndrome and intellectual disability syndromeEnrichmentCSNK2B1.82
165Distal 17p13.3 microdeletion syndromeEnrichmentYWHAE1.82
166Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG1, CENPP, DIAPH31.77
167Dystonia 4, torsion, autosomal dominantEnrichmentTUBB4A1.76
168Muscular dystrophy, limb-girdle, autosomal recessive 3EnrichmentTUBA1A1.76
169Autosomal recessive limb-girdle muscular dystrophy type 2dEnrichmentTUBA1A1.76
170Cortical dysplasia, complex, with other brain malformations 1EnrichmentTUBB31.76
171Torsion dystonia 4EnrichmentTUBB4A1.76
172Continuous spikes and waves during sleepEnrichmentTUBA1A1.76
173Congenital nervous system abnormalityEnrichmentDYNC1H1, SMC1A, TUBA1A, TUBB4A1.73
174Nervous system diseaseEnrichmentDYNC1H1, SMC1A, TUBA1A, TUBB4A1.73
175Cornelia de lange syndrome 2EnrichmentSMC1A1.72
176Syndactyly, type iiiEnrichmentHDAC81.72
177Wilson-turner syndromeEnrichmentHDAC81.72
178Deafness, autosomal dominant 20EnrichmentACTG11.68
179Baraitser-winter syndrome 2EnrichmentACTG11.68
180Robinow syndrome, autosomal dominant 3EnrichmentDVL31.68
181Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.68
182Immunodeficiency 66EnrichmentMRTFA1.68
183Immune system diseaseEnrichmentCDC421.68
184Crohn's diseaseEnrichmentFMNL21.68
185Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)EnrichmentMRTFA1.68
186Spondyloepiphyseal dysplasia congenitaEnrichmentCLASP11.68
187Methylmalonic aciduria and homocystinuria, cblx typeEnrichmentCENPT1.68
188Band heterotopiaEnrichmentPAFAH1B11.68
189Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentRANBP21.68
190Tricuspid valve insufficiencyEnrichmentNDE11.68
191Corpus callosum, agenesis ofEnrichmentCDK5RAP2, TUBA1A1.67
192Isolated corpus callosum agenesisEnrichmentCDK5RAP2, TUBA1A1.67
193Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCDK5RAP2, TUBA1A1.67
194Hydrocephalus, congenital, 1EnrichmentOFD1, TUBB1.62
195Bardet-biedl syndromeEnrichmentALMS1, CEP290, SDCCAG81.59
196Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentTUBB11.58
197Leukodystrophy, hypomyelinating, 6EnrichmentTUBB4A1.58
198Oocyte/zygote/embryo maturation arrest 2EnrichmentTUBB81.58
199Cortical dysplasia, complex, with other brain malformations 5EnrichmentTUBB2A1.58
200Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentRANBP21.55
201CystinuriaEnrichmentCENPF1.55
202Ciliary dyskinesia, primary, 29EnrichmentCENPF1.55
203Ectodermal dysplasiaEnrichmentRANBP21.55
204Mitral valve insufficiencyEnrichmentNDE11.55
205Polycystic kidney diseaseEnrichmentCEP290, HDAC81.52
206Auditory neuropathyEnrichmentDIAPH1, TUBB4A1.52
207Microcephaly and chorioretinopathy, autosomal recessive, 1EnrichmentTUBGCP61.52
208Spondyloepiphyseal dysplasia tarda, x-linkedEnrichmentOFD11.52
209Orofaciodigital syndrome iEnrichmentOFD11.52
210Microcephaly 6, primary, autosomal recessiveEnrichmentCPAP1.52
211Seckel syndrome 4EnrichmentCPAP1.52
212Mosaic variegated aneuploidy syndrome 2EnrichmentCEP571.52
213Cone-rod dystrophy and hearing loss 2EnrichmentCEP2501.52
214Cortical dysplasia, complex, with other brain malformations 4EnrichmentTUBG11.52
215Joubert syndrome 10EnrichmentOFD11.52
216Microcephaly 21, primary, autosomal recessiveEnrichmentNCAPD21.52
217Poirier-bienvenu neurodevelopmental syndromeEnrichmentCSNK2B1.52
218Cortical dysplasia, complex, with other brain malformations 15EnrichmentTUBGCP21.52
219Microcephaly and chorioretinopathy 1EnrichmentTUBGCP61.52
220Senior-loken syndrome 7EnrichmentSDCCAG81.52
221Microcephaly and chorioretinopathy, autosomal recessive, 3EnrichmentTUBGCP41.52
222Spondyloepiphyseal dysplasia tardaEnrichmentOFD11.52
223Fibrolamellar carcinomaEnrichmentPRKACA1.52
224Bardet-biedl syndrome 16EnrichmentSDCCAG81.52
225Multiple benign circumferential skin creases on limbsEnrichmentTUBB1.52
226Distal hereditary motor neuropathy type 7EnrichmentDCTN11.52
227Microcephaly and chorioretinopathy 3EnrichmentTUBGCP41.52
228Hereditary retinal dystrophyEnrichmentALMS1, CEP164, CEP250, CEP290, CEP78, NEK2, OFD1, SDCCAG8, TUBGCP61.48
229Fundus dystrophyEnrichmentALMS1, CEP164, CEP250, CEP290, CEP78, NEK2, OFD1, SDCCAG8, TUBGCP61.48
230Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominantEnrichmentRANBP21.46
231Lissencephaly 2EnrichmentNDE11.46
232Spinal muscular atrophyEnrichmentDYNC1H11.46
233Autosomal recessive hypohidrotic ectodermal dysplasia syndromeEnrichmentRANBP21.46
234Trichorhinophalangeal syndrome, type iiEnrichmentRAD211.43
235Joubert syndrome 1EnrichmentB9D2, CEP290, OFD11.40
236Autosomal dominant non-syndromic intellectual disabilityEnrichmentCSNK2B, DYNC1H1, TAOK11.40
237Deafness, autosomal recessive 63EnrichmentANAPC151.39
238Acyl-coa dehydrogenase, very long-chain, deficiency ofEnrichmentDVL21.38
239Aminoacylase 1 deficiencyEnrichmentACTB1.38
240Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCDC421.38
241Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.38
242Inflammatory myofibroblastic tumorEnrichmentRANBP21.38
243Intestinal pseudo-obstructionEnrichmentNDE11.38
244Goldberg-shprintzen syndromeEnrichmentNEK91.37
245Female infertility due to oocyte meiotic arrestEnrichmentTUBB81.37
246Prognathism, mandibularEnrichmentCSNK2B1.35
247Alstrom syndromeEnrichmentALMS11.35
248Simpson-golabi-behmel syndrome, type 1EnrichmentOFD11.35
249Senior-loken syndrome 6EnrichmentCEP2901.35
250Joubert syndrome 5EnrichmentCEP2901.35
251Meckel syndrome, type 6EnrichmentCEP2901.35
252Myopathy, myofibrillar, 7EnrichmentCEP631.35
253End stage renal diseaseEnrichmentALMS11.35
254Cog7-congenital disorder of glycosylationEnrichmentCEP2901.35
255Occipital encephaloceleEnrichmentCEP2901.35
256Advanced sleep phase syndromeEnrichmentCSNK1D1.35
257Cerebral palsyEnrichmentTUBA1A, TUBB4A1.34
258Mitochondrial dna depletion syndrome 4aEnrichmentRANBP21.31
259Body mass index quantitative trait locus 11EnrichmentCENPO, NUDC1.31
260Coloboma of choroid and retinaEnrichmentACTG11.29
261Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1EnrichmentTUBB2B1.29
262Early myoclonic encephalopathyEnrichmentTUBA1A1.29
263Mitochondrial dna depletion syndrome 4bEnrichmentRANBP21.26
264Perrault syndromeEnrichmentSGO21.26
265Meckel syndrome, type 4EnrichmentCEP2901.23
266Orofaciodigital syndrome iiiEnrichmentOFD11.23
267Bardet-biedl syndrome 14EnrichmentCEP2901.23
268EnophthalmosEnrichmentCSNK2B1.23
269SyndactylyEnrichmentCSNK2B1.23
270Orofaciodigital syndromeEnrichmentOFD11.23
271Hemihyperplasia, isolatedEnrichmentRHOA1.21
272Moyamoya disease 1EnrichmentDIAPH11.21
273Pendred syndromeEnrichmentDIAPH11.21
274Colorectal cancerEnrichmentBUB1, BUB1B, SRC1.20
275CryptorchidismEnrichmentTUBA1A1.17
276MyelofibrosisEnrichmentSRC1.15
277Meckel syndrome, type 1EnrichmentB9D2, CEP2901.15
278Rett syndrome, congenital variantEnrichmentSMC1A1.13
279Arthrogryposis, renal dysfunction, and cholestasis 1EnrichmentCPAP1.13
280Coach syndrome 1EnrichmentOFD11.13
281Microcephaly 1, primary, autosomal recessiveEnrichmentCPAP1.13
282Leber congenital amaurosis 10EnrichmentCEP2901.13
283Night blindnessEnrichmentCEP2901.13
284Joubert syndrome with ocular defectEnrichmentCEP411.13
285Genetic motor neuron diseaseEnrichmentDCTN11.13
286Endometrial stromal sarcomaEnrichmentYWHAE1.13
287Cryptorchidism, unilateral or bilateralEnrichmentTUBA1A1.12
288Short-rib thoracic dysplasia 3 with or without polydactylyEnrichmentDYNC1H11.09
28946 xx gonadal dysgenesisEnrichmentNUP1071.09
290Autism spectrum disorderEnrichmentCSNK2A1, CSNK2B, DYNC1H1, SMC31.07
291Cone-rod dystrophy 2EnrichmentALMS1, CEP290, CEP781.07
292Renal dysplasia, cysticEnrichmentCEP2901.06
293Kidney clear cell sarcomaEnrichmentYWHAE1.06
294Nk-cell enteropathyEnrichmentAURKB1.05
295NephronophthisisEnrichmentCEP290, INCENP1.05
296ThrombocytopeniaEnrichmentSRC, TUBB11.05
297Inflammatory bowel disease 1EnrichmentFMNL21.04
298Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC11.04
299Atrial heart septal defectEnrichmentHDAC81.00
300Interatrial communicationEnrichmentHDAC81.00
301Cat eye syndromeEnrichmentACTG11.00
302Congenital hypothyroidismEnrichmentTUBB11.00
303MyopiaEnrichmentNDE11.00
304Arima syndromeEnrichmentCEP2900.99
305Usher syndrome, type iiiaEnrichmentCEP780.99
306Moyamoya angiopathyEnrichmentCEP780.99
307Spastic paraplegia 4, autosomal dominantEnrichmentOFD10.94
308Immunodeficiency 47EnrichmentCEP2900.94
309Charcot-marie-tooth disease type 4EnrichmentDYNC1H10.92
310Neural tube defectsEnrichmentITGB10.89
311Charcot-marie-tooth diseaseEnrichmentDCTN1, DYNC1H10.89
312Ellis-van creveld syndromeEnrichmentPRKACA0.89
313OsteoporosisEnrichmentSRC0.86
314Dandy-walker syndromeEnrichmentTUBA1A0.86
315Amyotrophic lateral sclerosis 1EnrichmentDCTN10.85
316Stickler syndromeEnrichmentALMS10.85
317West syndromeEnrichmentCSNK1E, TUBA1A0.84
318Tooth agenesisEnrichmentRANBP20.84
319Alobar holoprosencephalyEnrichmentSTAG20.82
320Orofaciodigital syndrome viEnrichmentOFD10.81
321Frontotemporal dementia 1EnrichmentDCTN10.81
322Specific learning disabilityEnrichmentYWHAG0.81
323Leber plus diseaseEnrichmentALMS1, CEP290, TUBB4B0.76
324Acute promyelocytic leukemiaEnrichmentNUMA10.74
325Hirschsprung disease 1EnrichmentNUP980.73
326Prostate cancerEnrichmentMAD1L10.73
327Severe covid-19EnrichmentCENPF0.73
328Spastic ataxiaEnrichmentCEP290, TUBB30.72
329Rare genetic deafnessEnrichmentACTG1, DIAPH10.70
330Lung cancerEnrichmentPPP2R1B0.69
331Peripheral nervous system diseaseEnrichmentDYNC1H10.69
332NeuropathyEnrichmentDYNC1H10.69
333Kidney diseaseEnrichmentCEP2900.69
334Diamond-blackfan anemiaEnrichmentRPS270.65
335MyopathyEnrichmentDYNC1H10.61
336LeukodystrophyEnrichmentALMS10.58
337Focal segmental glomerulosclerosisEnrichmentSDCCAG80.58
338Fetal akinesia deformation sequence 1EnrichmentTUBA1A0.56
339CakutEnrichmentACTG10.52
340Non-syndromic genetic deafnessEnrichmentACTG10.50
341Developmental and epileptic encephalopathy 1EnrichmentCSNK1E0.50
342Optic atrophy plus syndromeEnrichmentTUBB60.49
343Brugada syndromeEnrichmentAKAP90.48
344Autosomal recessive non-syndromic intellectual disabilityEnrichmentCLIP10.47
345Primary ovarian insufficiencyEnrichmentSGO20.46
346EpilepsyEnrichmentDIAPH10.46
347Nonsyndromic hearing lossEnrichmentACTG10.45
348Differentiated thyroid carcinomaEnrichmentPCM10.45
349Long qt syndrome 1EnrichmentAKAP90.43
350Stargardt disease 1EnrichmentALMS10.43
351Visceral heterotaxy 5EnrichmentNME70.42
352Long qt syndromeEnrichmentAKAP90.42
353Connective tissue diseaseEnrichmentOFD10.41
354Usher syndromeEnrichmentCEP2500.40
355Retinitis pigmentosaEnrichmentALMS1, CEP290, NEK2, OFD10.40
356Eye diseaseEnrichmentALMS10.38
357Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentPFN10.34
358Hereditary spastic paraplegiaEnrichmentCEP630.32
359Ovarian cancerEnrichmentBUB1B0.29
360Sensorineural hearing lossEnrichmentCEP780.28
361Complex neurodevelopmental disorderEnrichmentCSNK2A1, PPP2CA0.25
362Undetermined early-onset epileptic encephalopathyEnrichmentYWHAG0.24
363Primary ciliary dyskinesiaEnrichmentOFD10.16

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