Separation of Sister Chromatids

Pathway network for the Separation of Sister Chromatids SuperPath

Sources:
  • Reactome
  • WikiPathways

Pathways in the Separation of Sister Chromatids SuperPath

#NameSourceGenes
1Separation of Sister ChromatidsReactome
2Mitotic Metaphase and AnaphaseReactome
3Mitotic AnaphaseReactome
4Regulation of sister chromatid separation at the metaphase-anaphase transitionWikiPathways

Gene overlap in member pathways for Separation of Sister Chromatids SuperPath

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

Disorders associated with Separation of Sister Chromatids SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Mosaic variegated aneuploidy syndromeEnrichmentBUB1, BUB1B, BUB3, MAD1L110.02
2Cornelia de lange syndrome 1EnrichmentRAD21, SMC1A, SMC37.04
3Cornelia de lange syndromeEnrichmentRAD21, SMC1A, SMC37.04
4LissencephalyEnrichmentDYNC1H1, PAFAH1B1, TUBA1A, TUBA3E, TUBB2B, TUBB36.64
5Genetic steroid-resistant nephrotic syndromeEnrichmentNUP107, NUP133, NUP160, NUP205, NUP37, NUP85, NUP935.94
6Tubulinopathy-associated dysgyriaEnrichmentTUBA1A, TUBB2B, TUBB35.64
7TubulinopathyEnrichmentTUBA1A, TUBB2A, TUBB2B5.04
8Mosaic variegated aneuploidy syndrome 1EnrichmentBUB1B, MAD1L14.94
9Wiedemann-steiner syndromeEnrichmentSMC1A, SMC34.77
10Congenital fibrosis of the extraocular musclesEnrichmentTUBA1A, TUBB2B, TUBB34.35
11MicrocephalyEnrichmentANKLE2, DYNC1H1, HDAC8, LEMD2, NUF2, NUP188, PSMC3, SMC1A, TUBB4A3.68
12Developmental and epileptic encephalopathy 85 with or without midline brain defectsEnrichmentSMC1A2.96
13Cornelia de lange syndrome 3 with or without midline brain defectsEnrichmentSMC32.96
14Premature chromatid separation traitEnrichmentBUB1B2.96
15Cornelia de lange syndrome 4 with or without midline brain defectsEnrichmentRAD212.96
16Oocyte/zygote/embryo maturation arrest 14EnrichmentCDC202.96
17Intellectual developmental disorder, autosomal dominant 47EnrichmentSTAG12.96
18Mungan syndromeEnrichmentRAD212.96
19Microcephaly 13, primary, autosomal recessiveEnrichmentCENPE2.96
20Microcephaly 30, primary, autosomal recessiveEnrichmentBUB12.96
21Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predispositionEnrichmentMAD1L12.96
22Emery-dreifuss muscular dystrophy 1, x-linkedEnrichmentEMD, LMNA2.79
23Emery-dreifuss muscular dystrophyEnrichmentEMD, LMNA2.79
24Familial infantile bilateral striatal necrosisEnrichmentNUP54, NUP622.79
25Primary autosomal recessive microcephalyEnrichmentANKLE2, CENPE, KNL1, NUP372.74
26Cornelia de lange syndrome 2EnrichmentSMC1A2.66
27Cataract 6, multiple typesEnrichmentCHMP4B, LEMD22.58
28Spinal muscular atrophyEnrichmentDYNC1H1, VRK12.58
29Polymicrogyria, bilateral perisylvian, x-linkedEnrichmentTUBA1A, TUBB2B2.45
30Colorectal cancerEnrichmentBUB1, BUB1B2.39
31Trichorhinophalangeal syndrome, type iiEnrichmentRAD212.35
32Fanconi anemia, complementation group cEnrichmentHDAC8, TAOK12.33
33Bilateral perisylvian polymicrogyriaEnrichmentTUBA1A, TUBB2B2.23
34Galloway-mowat syndromeEnrichmentNUP107, NUP1332.13
35PolymicrogyriaEnrichmentDYNC1H1, PSMC32.13
36Autosomal dominant macrothrombocytopeniaEnrichmentTUBA8, TUBB12.13
37Rett syndrome, congenital variantEnrichmentSMC1A2.05
38Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvementEnrichmentTUBB31.88
39Holoprosencephaly 13, x-linkedEnrichmentSTAG21.88
40Macrothrombocytopenia, isolated, 1, autosomal dominantEnrichmentTUBB11.88
41Cortical dysplasia, complex, with other brain malformations 3EnrichmentKIF2A1.88
42Developmental delay with or without intellectual impairment or behavioral abnormalitiesEnrichmentTAOK11.88
43Neurodevelopmental disorder with microcephaly, hypotonia, and absent languageEnrichmentPSMB11.88
44Leber congenital amaurosis with early-onset deafnessEnrichmentTUBB4B1.88
45Nephrotic syndrome, type 19EnrichmentNUP1601.88
46Cornelia de lange syndrome 5EnrichmentHDAC81.88
47Mullegama-klein-martinez syndromeEnrichmentSTAG21.88
48Houge-janssens syndrome 4EnrichmentPPP2R5C1.88
49Stankiewicz-isidor syndromeEnrichmentPSMD121.88
50Galloway-mowat syndrome 8EnrichmentNUP1331.88
51Oocyte/zygote/embryo maturation arrest 24EnrichmentTUBA1C1.88
52Ferguson-bonni neurodevelopmental syndromeEnrichmentANAPC71.88
53Houge-janssens syndrome 2EnrichmentPPP2R1A1.88
54Deafness, cataract, impaired intellectual development, and polyneuropathyEnrichmentPSMC31.88
55Microcephaly 4, primary, autosomal recessiveEnrichmentKNL11.88
56Microcephaly 24, primary, autosomal recessiveEnrichmentNUP371.88
57MicrohydranencephalyEnrichmentNDE11.88
58Galloway-mowat syndrome 7EnrichmentNUP1071.88
59Rothmund-thomson syndrome, type 1EnrichmentANAPC11.88
60Cortical dysplasia, complex, with other brain malformations 7EnrichmentTUBB2B1.88
61Lissencephaly 4 with microcephalyEnrichmentNDE11.88
62Oocyte/zygote/embryo maturation arrest 23EnrichmentTUBA4A1.88
63Frontotemporal dementia and/or amyotrophic lateral sclerosis 9EnrichmentTUBA4A1.88
64Meckel syndrome, type 10EnrichmentB9D21.88
65Nephrotic syndrome, type 11EnrichmentNUP1071.88
66Dync1h1-related disordersEnrichmentDYNC1H11.88
67Xq25 microduplication syndromeEnrichmentSTAG21.88
68Facial palsy, congenital, with ptosis and velopharyngeal dysfunctionEnrichmentTUBB61.88
69Ovarian dysgenesis 6EnrichmentNUP1071.88
70Short stature and microcephaly with genital anomaliesEnrichmentCENPT1.88
71Nephrotic syndrome, type 18EnrichmentNUP1331.88
72Neurodevelopmental disorder with microcephaly and structural brain anomaliesEnrichmentDYNC1I21.88
73HydranencephalyEnrichmentNDE11.88
74Macrothrombocytopenia, isolated, 2, autosomal dominantEnrichmentTUBA81.88
75Lissencephaly due to tuba1a mutationEnrichmentTUBA1A1.88
76Nde1-related microhydranencephalyEnrichmentNDE11.88
77Congenital myopathy 26EnrichmentTUBA4A1.88
78Spastic ataxia 11, autosomal dominantEnrichmentTUBA4A1.88
79Amyotrophic lateral sclerosis type 22EnrichmentTUBA4A1.88
80Polymicrogyria with optic nerve hypoplasiaEnrichmentTUBA81.88
81Familial acute necrotizing encephalopathyEnrichmentRANBP21.88
82Lissencephaly due to lis1 mutationEnrichmentPAFAH1B11.88
83Ppp2r1a-related neurodevelopmental disorderEnrichmentPPP2R1A1.88
84Seckel syndromeEnrichmentCENPE, NUP851.84
85Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typicalEnrichmentLMNB11.78
86Buschke-ollendorff syndromeEnrichmentLEMD31.78
87Cataract 31, multiple typesEnrichmentCHMP4B1.78
88Teeth, supernumeraryEnrichmentLEMD21.78
89Greenberg dysplasiaEnrichmentLBR1.78
90Pelger-huet anomalyEnrichmentLBR1.78
91Microcephaly 16, primary, autosomal recessiveEnrichmentANKLE21.78
92Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrimaEnrichmentNDC11.78
93Atrial fibrillation, familial, 15EnrichmentNUP1551.78
94Rhizomelic skeletal dysplasia with or without pelger-huet anomalyEnrichmentLBR1.78
95Dystonia 37, early-onset, with striatal lesionsEnrichmentNUP541.78
96Orofacial cleft 10EnrichmentSUMO11.78
97Marbach-rustad progeroid syndromeEnrichmentLEMD21.78
98Adult onset demyelinating leukodystrophyEnrichmentLMNB11.78
99Nephrotic syndrome, type 13EnrichmentNUP2051.78
100Nestor-guillermo progeria syndromeEnrichmentBANF11.78
101Nephrotic syndrome, type 12EnrichmentNUP931.78
102Microcephaly 26, primary, autosomal dominantEnrichmentLMNB11.78
103Reynolds syndromeEnrichmentLBR1.78
104Atypical werner syndromeEnrichmentLMNA1.78
105Sandestig-stefanova syndromeEnrichmentNUP1881.78
106Neuronopathy, distal hereditary motor, autosomal recessive 10EnrichmentVRK11.78
107Melorheostosis with osteopoikilosisEnrichmentLEMD31.78
108Mandibuloacral dysplasiaEnrichmentLMNA1.78
109Atrioventricular blockEnrichmentLMNA1.78
110Infection-induced acute-onset axonal neuropathyEnrichmentRCC11.78
111Lmna-related cardiocutaneous progeria syndromeEnrichmentLMNA1.78
112Isolated osteopoikilosisEnrichmentLEMD31.78
113Autosomal semi-dominant severe lipodystrophic laminopathyEnrichmentLMNA1.78
114Microcephaly-complex motor and sensory axonal neuropathy syndromeEnrichmentVRK11.78
115Autosomal recessive axonal hereditary motor and sensory neuropathyEnrichmentLMNA1.78
116LaminopathyEnrichmentLMNA1.78
117Semilobar holoprosencephalyEnrichmentSMC1A1.70
118Aortic aneurysm, familial thoracic 4EnrichmentNDE11.58
119Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominantEnrichmentDYNC1H11.58
120Dystonia 4, torsion, autosomal dominantEnrichmentTUBB4A1.58
121Microcephalic osteodysplastic primordial dwarfism, type iEnrichmentCLASP11.58
122Stromme syndromeEnrichmentCENPF1.58
123Lowry-wood syndromeEnrichmentCLASP11.58
124Nephronophthisis-like nephropathy 1EnrichmentRANGAP11.58
125MacroglossiaEnrichmentTAOK11.58
126Lissencephaly 1EnrichmentPAFAH1B11.58
127Muscular dystrophy, limb-girdle, autosomal recessive 3EnrichmentTUBA1A1.58
128Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomaliesEnrichmentDYNC1I21.58
129Syndactyly, type iiiEnrichmentHDAC81.58
130Houge-janssens syndrome 1EnrichmentPPP2R5D1.58
131Roifman syndromeEnrichmentCLASP11.58
132Cortical dysplasia, complex, with other brain malformations 13EnrichmentDYNC1H11.58
133Megacystis-microcolon-intestinal hypoperistalsis syndrome 2EnrichmentNDE11.58
134Birk-aharoni syndromeEnrichmentPSMC11.58
135Nephrotic syndrome, type 17EnrichmentNUP851.58
136Keratoconus 9EnrichmentTUBA3D1.58
137Neurodevelopmental disorder with developmental delay and with or without motor or speech delayEnrichmentTAOK11.58
138Proteasome-associated autoinflammatory syndrome 3EnrichmentPSMB41.58
139Autosomal recessive limb-girdle muscular dystrophy type 2dEnrichmentTUBA1A1.58
140Wilson-turner syndromeEnrichmentHDAC81.58
141Lissencephaly 3EnrichmentTUBA1A1.58
142Spinal muscular atrophy with lower extremity predominantEnrichmentDYNC1H11.58
143Body mass index quantitative trait locus 19EnrichmentCENPO1.58
144Cortical dysplasia, complex, with other brain malformations 1EnrichmentTUBB31.58
145Charcot-marie-tooth disease, axonal, type 2oEnrichmentDYNC1H11.58
146Visceral myopathy 2EnrichmentNDE11.58
147Degenerative disc diseaseEnrichmentCENPP1.58
148Methylmalonic aciduria and homocystinuria, cbll typeEnrichmentCENPT1.58
149Rnu4atac-opathyEnrichmentCLASP11.58
150Chronic atrial and intestinal dysrhythmiaEnrichmentSGO11.58
15117q24.2 microdeletion syndromeEnrichmentPSMD121.58
152Diamond-blackfan anemia 17EnrichmentRPS271.58
153Torsion dystonia 4EnrichmentTUBB4A1.58
154Houge-janssens syndrome 3EnrichmentPPP2CA1.58
155Primary mediastinal large b-cell lymphomaEnrichmentXPO11.58
156Acute necrotizing encephalopathy of childhoodEnrichmentRANBP21.58
157Continuous spikes and waves during sleepEnrichmentTUBA1A1.58
158Submucosal cleft palateEnrichmentUBB1.58
159Cleft hard palateEnrichmentUBB1.58
160Cerebral palsyEnrichmentSPAST, TUBA1A, TUBB4A1.58
161Prostate cancerEnrichmentMAD1L11.50
162Cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathyEnrichmentLEMD21.48
163Mandibuloacral dysplasia with type a lipodystrophyEnrichmentLMNA1.48
164Striatonigral degeneration, infantileEnrichmentNUP621.48
165Myopathy, x-linked, with postural muscle atrophyEnrichmentEMD1.48
166Heart-hand syndrome, slovenian typeEnrichmentLMNA1.48
167Pontocerebellar hypoplasia, type 1aEnrichmentVRK11.48
168Charcot-marie-tooth disease, axonal, type 2b1EnrichmentLMNA1.48
169Cardiomyopathy, dilated, with hypergonadotropic hypogonadismEnrichmentLMNA1.48
170Cardiomyopathy, dilated, 1dEnrichmentLMNA1.48
171Restrictive dermopathy 2EnrichmentLMNA1.48
172Emery-dreifuss muscular dystrophy 3, autosomal recessiveEnrichmentLMNA1.48
173Cataract 46 juvenile-onsetEnrichmentLEMD21.48
174Lipodystrophy, familial partial, type 1EnrichmentLMNA1.48
175OsteopoikilosisEnrichmentLEMD31.48
176Cimdag syndromeEnrichmentVPS4A1.48
177Autosomal dominant primary microcephalyEnrichmentLMNB11.48
178Congenital pontocerebellar hypoplasia type 1EnrichmentVRK11.48
179Familial partial lipodystrophyEnrichmentLMNA1.48
18012q14 microdeletion syndromeEnrichmentLEMD31.48
181Charcot-marie-tooth disease type 2b1EnrichmentLMNA1.48
182X-linked emery-dreifuss muscular dystrophyEnrichmentEMD1.48
183Neuromuscular diseaseEnrichmentEMD, LMNA1.45
184Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentEMD, LMNA1.41
185Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentTUBB11.41
186Spondyloepiphyseal dysplasia congenitaEnrichmentCLASP11.41
187Proteasome-associated autoinflammatory syndrome 1EnrichmentPSMB41.41
188Uvula, bifidEnrichmentUBB1.41
189Methylmalonic aciduria and homocystinuria, cblx typeEnrichmentCENPT1.41
190Band heterotopiaEnrichmentPAFAH1B11.41
191Cleft soft palateEnrichmentUBB1.41
192Leukodystrophy, hypomyelinating, 6EnrichmentTUBB4A1.41
193Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentRANBP21.41
194Miller-dieker lissencephaly syndromeEnrichmentPAFAH1B11.41
195Chromosome 17p13.3, centromeric, duplication syndromeEnrichmentPAFAH1B11.41
196Oocyte/zygote/embryo maturation arrest 2EnrichmentTUBB81.41
197Cortical dysplasia, complex, with other brain malformations 5EnrichmentTUBB2A1.41
198Proteosome-associated autoinflammatory syndromeEnrichmentPSMB41.41
199Tricuspid valve insufficiencyEnrichmentNDE11.41
200Thyroid hemiagenesisEnrichmentPSMD31.41
201Restrictive dermopathy 1EnrichmentLMNA1.31
202Spastic paraplegia 2, x-linkedEnrichmentSPAST1.31
203Lipodystrophy, familial partial, type 2EnrichmentLMNA1.31
204Muscular dystrophy, congenital, lmna-relatedEnrichmentLMNA1.31
205Pontocerebellar hypoplasia, type 1bEnrichmentVRK11.31
206Restrictive dermopathyEnrichmentLMNA1.31
207Tooth agenesisEnrichmentRANBP2, SUMO11.29
208Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentRANBP21.28
209CystinuriaEnrichmentCENPF1.28
210Ciliary dyskinesia, primary, 29EnrichmentCENPF1.28
211Ectodermal dysplasiaEnrichmentRANBP21.28
212Mitral valve insufficiencyEnrichmentNDE11.28
213Congenital nervous system abnormalityEnrichmentDYNC1H1, SMC1A, TUBA1A, TUBB4A1.28
214Nervous system diseaseEnrichmentDYNC1H1, SMC1A, TUBA1A, TUBB4A1.28
215Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominantEnrichmentRANBP21.19
216Deafness, autosomal recessive 63EnrichmentANAPC151.19
217Chromosome 15q11.2 deletion syndromeEnrichmentPAFAH1B11.19
218Lissencephaly 2EnrichmentNDE11.19
219Autosomal recessive hypohidrotic ectodermal dysplasia syndromeEnrichmentRANBP21.19
220Female infertility due to oocyte meiotic arrestEnrichmentTUBB81.19
221Hutchinson-gilford progeria syndromeEnrichmentLMNA1.19
222Microtia-anotiaEnrichmentLMNA1.19
223Charcot-marie-tooth hereditary neuropathyEnrichmentVRK11.19
224Sick sinus syndromeEnrichmentLMNA1.19
225Developmental dysplasia of the hip 1EnrichmentPSMC31.11
226Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1EnrichmentTUBB2B1.11
227Inflammatory myofibroblastic tumorEnrichmentRANBP21.11
228Intestinal pseudo-obstructionEnrichmentNDE11.11
229Patent ductus arteriosusEnrichmentPSMC31.11
230Early myoclonic encephalopathyEnrichmentTUBA1A1.11
231Spastic diplegiaEnrichmentSPAST1.10
232Autosomal recessive limb-girdle muscular dystrophy type 2bEnrichmentLMNA1.10
233Histiocytoid hemangiomaEnrichmentLMNA1.10
234Mitochondrial dna depletion syndrome 4aEnrichmentRANBP21.05
235Emery-dreifuss muscular dystrophy 2, autosomal dominantEnrichmentLMNA1.02
236Pontocerebellar hypoplasia, type 1eEnrichmentVRK11.02
237Peripheral nervous system diseaseEnrichmentDYNC1H1, LMNA1.01
238NeuropathyEnrichmentDYNC1H1, LMNA1.01
239Mitochondrial dna depletion syndrome 4bEnrichmentRANBP20.99
240Perrault syndromeEnrichmentSGO20.99
241CryptorchidismEnrichmentTUBA1A0.99
242Isolated split hand-split foot malformationEnrichmentSEM10.99
243Ovarian cancerEnrichmentBUB1B0.97
244Bethlem myopathy 1aEnrichmentLMNA0.96
245Semantic dementiaEnrichmentCHMP2B0.96
246Cryptorchidism, unilateral or bilateralEnrichmentTUBA1A0.95
247Autism spectrum disorderEnrichmentSMC30.94
248Spastic paraplegia 4, autosomal dominantEnrichmentSPAST0.90
249Congenital muscular dystrophyEnrichmentLMNA0.90
250MyocarditisEnrichmentLMNA0.90
251Early-onset posterior polar cataractEnrichmentCHMP4B0.90
252Atrial heart septal defectEnrichmentHDAC80.86
253Interatrial communicationEnrichmentHDAC80.86
254Arrhythmogenic right ventricular dysplasia, familial, 9EnrichmentLMNA0.85
255Leukoencephalopathy with vanishing white matterEnrichmentANKLE20.85
256Progressive non-fluent aphasiaEnrichmentCHMP2B0.85
257Behavioral variant of frontotemporal dementiaEnrichmentCHMP2B0.85
258Juvenile amyotrophic lateral sclerosisEnrichmentVRK10.85
259MyopathyEnrichmentDYNC1H1, EMD0.85
260Body mass index quantitative trait locus 11EnrichmentCENPO, NUDC0.85
261Autosomal dominant non-syndromic intellectual disabilityEnrichmentDYNC1H1, TAOK10.85
262Charcot-marie-tooth diseaseEnrichmentDYNC1H1, LMNA0.83
263Short-rib thoracic dysplasia 3 with or without polydactylyEnrichmentDYNC1H10.83
264Congenital hypothyroidismEnrichmentTUBB10.83
26546 xx gonadal dysgenesisEnrichmentNUP1070.83
266Nk-cell enteropathyEnrichmentAURKB0.80
267Corpus callosum, agenesis ofEnrichmentTUBA1A0.74
268MyopiaEnrichmentNDE10.74
269Isolated corpus callosum agenesisEnrichmentTUBA1A0.74
270Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentTUBA1A0.74
271Cardiac conduction defectEnrichmentLMNA0.74
272Muscular dystrophy, limb-girdle, autosomal recessive 2EnrichmentLMNA0.74
273Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentLMNA0.74
274Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentLMNA0.74
275Isolated congenital microcephalyEnrichmentTUBA3E0.72
276Dandy-walker syndromeEnrichmentTUBA1A0.69
277Alobar holoprosencephalyEnrichmentSTAG20.69
278Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentLMNA0.68
279Charcot-marie-tooth disease type 4EnrichmentDYNC1H10.67
280Patent foramen ovaleEnrichmentPSMC30.67
281Polycystic kidney diseaseEnrichmentHDAC80.67
282Familial isolated dilated cardiomyopathyEnrichmentLMNA, TMPO0.66
283Arrhythmogenic right ventricular cardiomyopathyEnrichmentLMNA0.63
284Cardiomyopathy, dilated, 1eEnrichmentLMNA0.61
285Cataract 44EnrichmentLEMD20.61
286Myocardial infarctionEnrichmentPSMA60.59
287Pontocerebellar hypoplasiaEnrichmentVRK10.58
288Arteriovenous malformations of the brainEnrichmentLEMD30.56
289Focal segmental glomerulosclerosisEnrichmentNUP930.55
290Auditory neuropathyEnrichmentTUBB4A0.53
291Cardiomyopathy, dilated, 1aEnrichmentLMNA0.53
292Hirschsprung disease 1EnrichmentNUP980.49
293Meckel syndrome, type 1EnrichmentB9D20.49
294Severe covid-19EnrichmentCENPF0.49
295Isolated joubert syndromeEnrichmentB9D20.48
296Cardiomyopathy, familial hypertrophic, 1EnrichmentLMNA0.48
297Familial atrial fibrillationEnrichmentNUP1550.48
298Muscular dystrophyEnrichmentLMNA0.48
299Jeune thoracic dystrophyEnrichmentLBR0.47
300Lung cancerEnrichmentPPP2R1B0.46
301Brugada syndromeEnrichmentLMNA0.45
302NephronophthisisEnrichmentINCENP0.45
303Asphyxiating thoracic dystrophyEnrichmentLBR0.43
304Diamond-blackfan anemiaEnrichmentRPS270.42
305Dilated cardiomyopathyEnrichmentEMD, LMNA0.42
306Fetal akinesia deformation sequence 1EnrichmentTUBA1A0.41
307Long qt syndromeEnrichmentLMNA0.39
308Short-rib thoracic dysplasia 1 with or without polydactylyEnrichmentLBR0.37
309Left ventricular noncompactionEnrichmentLMNA0.35
310Optic atrophy plus syndromeEnrichmentTUBB60.35
311West syndromeEnrichmentTUBA1A0.35
312ThrombocytopeniaEnrichmentTUBB10.32
313Joubert syndrome 1EnrichmentB9D20.31
314Complex neurodevelopmental disorderEnrichmentPPP2CA, PSMD120.31
315Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentCENPP0.30
316Hereditary spastic paraplegiaEnrichmentSPAST0.30
317Spastic ataxiaEnrichmentTUBB30.29
318Nephrotic syndromeEnrichmentNUP930.29
319Autosomal recessive non-syndromic intellectual disabilityEnrichmentCLIP10.27
320Primary ovarian insufficiencyEnrichmentSGO20.26
321Hereditary breast ovarian cancer syndromeEnrichmentVRK10.22
322Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentCHMP2B0.21
323Leber plus diseaseEnrichmentTUBB4B0.14

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