Loss of Nlp from mitotic centrosomes

Pathway network for the Loss of Nlp from mitotic centrosomes SuperPath

Sources:
  • Reactome

Pathways in the Loss of Nlp from mitotic centrosomes SuperPath

#NameSourceGenes
1Loss of Nlp from mitotic centrosomesReactome
2Mitotic G2-G2/M phasesReactome
3G2/M TransitionReactome
4Anchoring of the basal body to the plasma membraneReactome
5Recruitment of NuMA to mitotic centrosomesReactome
6Regulation of PLK1 Activity at G2/M TransitionReactome
7Centrosome maturationReactome
8Recruitment of mitotic centrosome proteins and complexesReactome
9AURKA Activation by TPX2Reactome
10Loss of proteins required for interphase microtubule organization from the centrosomeReactome
11Polo-like kinase mediated eventsReactome
12Interaction between PHLDA1 and AURKAReactome

Gene overlap in member pathways for Loss of Nlp from mitotic centrosomes SuperPath

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

Disorders associated with Loss of Nlp from mitotic centrosomes SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1LissencephalyEnrichmentCPAP, DYNC1H1, MZT2B, PAFAH1B1, TUBA1A, TUBA3E, TUBB, TUBB2B, TUBB3, TUBG116.00
2Meckel syndrome, type 1EnrichmentB9D1, B9D2, CC2D2A, CEP290, MKS1, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM216, TMEM6716.00
3Isolated joubert syndromeEnrichmentAHI1, B9D1, B9D2, CEP41, MKS1, OFD1, TCTN1, TCTN2, TCTN3, TMEM6710.91
4Bardet-biedl syndromeEnrichmentALMS1, CEP290, IQCB1, MKS1, NPHP1, NPHP4, RPGRIP1L, SCLT1, SDCCAG8, TMEM6710.75
5Joubert syndrome 1EnrichmentAHI1, B9D1, B9D2, C2CD3, CC2D2A, CEP290, MKS1, NPHP1, NPHP4, OFD1, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM216, TMEM6710.63
6Senior-loken syndrome 1EnrichmentCEP164, CEP290, IQCB1, NPHP1, NPHP4, SDCCAG89.68
7Coach syndrome 1EnrichmentCC2D2A, OFD1, RPGRIP1L, TMEM677.91
8Hereditary retinal dystrophyEnrichmentAHI1, ALMS1, CC2D2A, CEP164, CEP250, CEP290, CEP78, IQCB1, NEK2, NPHP1, NPHP4, OFD1, SDCCAG86.86
9Fundus dystrophyEnrichmentAHI1, ALMS1, CC2D2A, CEP164, CEP250, CEP290, CEP78, IQCB1, NEK2, NPHP1, NPHP4, OFD1, SDCCAG86.86
10Tubulinopathy-associated dysgyriaEnrichmentTUBA1A, TUBB2B, TUBB36.48
11Meckel syndrome, type 6EnrichmentCC2D2A, CEP290, TCTN26.45
12Primary autosomal recessive microcephalyEnrichmentCDK5RAP2, CEP135, CEP152, CEP63, CPAP6.27
13Seckel syndromeEnrichmentCEP152, CPAP, PCNT, PLK46.23
14CiliopathyEnrichmentCC2D2A, CEP83, RPGRIP1L, TCTN36.11
15Autosomal recessive chorioretinopathy-microcephaly syndromeEnrichmentPLK4, TUBGCP4, TUBGCP66.09
16TubulinopathyEnrichmentTUBA1A, TUBB2A, TUBB2B5.88
17Retinitis pigmentosaEnrichmentAHI1, ALMS1, CC2D2A, CEP290, IQCB1, MKS1, NEK2, NPHP4, OFD1, TMEM2165.57
18NephronophthisisEnrichmentAHI1, CEP290, IQCB1, NPHP1, NPHP45.47
19Joubert syndrome with ocular defectEnrichmentAHI1, CEP41, MKS15.45
20Leber plus diseaseEnrichmentAHI1, ALMS1, CC2D2A, CEP290, IQCB1, RPGRIP1L, TUBB4B5.29
21Congenital fibrosis of the extraocular musclesEnrichmentTUBA1A, TUBB2B, TUBB35.18
22Arima syndromeEnrichmentCC2D2A, CEP290, TMEM2164.92
23Lissencephaly 3EnrichmentCPAP, TUBA1A4.59
24Keratoconus 9EnrichmentMZT2A, TUBA3D4.31
25Joubert syndrome 10EnrichmentCC2D2A, OFD14.30
26Orofaciodigital syndrome viEnrichmentOFD1, TCTN3, TMEM2164.25
27Seckel syndrome 5EnrichmentCEP152, CPAP4.12
28Miller-dieker lissencephaly syndromeEnrichmentPAFAH1B1, YWHAE4.12
29Chromosome 17p13.3, centromeric, duplication syndromeEnrichmentPAFAH1B1, YWHAE4.12
30Congenital nervous system abnormalityEnrichmentCEP290, DYNC1H1, TMEM216, TMEM67, TUBA1A, TUBB4A3.96
31Nervous system diseaseEnrichmentCEP290, DYNC1H1, TMEM216, TMEM67, TUBA1A, TUBB4A3.96
32Isolated congenital microcephalyEnrichmentCPAP, MZT2B, TUBA3E3.76
33MicrocephalyEnrichmentCC2D2A, CDK5RAP2, CPAP, DYNC1H1, TUBB4A, YWHAG3.61
34Chromosome 15q11.2 deletion syndromeEnrichmentPAFAH1B1, TUBG13.60
35Joubert syndrome 4EnrichmentNPHP1, RPGRIP1L3.52
36Bardet-biedl syndrome 14EnrichmentCEP290, TMEM673.52
37OligohydramniosEnrichmentCC2D2A, TMEM673.52
38PolymicrogyriaEnrichmentDYNC1H1, OFD1, PSMC33.51
39Polymicrogyria, bilateral perisylvian, x-linkedEnrichmentTUBA1A, TUBB2B3.00
40Bilateral perisylvian polymicrogyriaEnrichmentTUBA1A, TUBB2B2.77
41PolydactylyEnrichmentCC2D2A, MKS12.75
42Cystic kidney diseaseEnrichmentCC2D2A, TMEM672.75
43Autosomal dominant macrothrombocytopeniaEnrichmentTUBA8, TUBB12.68
44Stromme syndromeEnrichmentCENPF2.63
45Menke-hennekam syndrome 2EnrichmentEP3002.63
46Corpus callosum, agenesis ofEnrichmentCDK5RAP2, TUBA1A2.59
47Isolated corpus callosum agenesisEnrichmentCDK5RAP2, TUBA1A2.59
48Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCDK5RAP2, TUBA1A2.59
49Hydrocephalus, congenital, 1EnrichmentOFD1, TUBB2.53
50Short-rib thoracic dysplasia 3 with or without polydactylyEnrichmentDYNC1H1, KIF242.50
51CystinuriaEnrichmentCENPF2.33
52Ciliary dyskinesia, primary, 29EnrichmentCENPF2.33
53Cone-rod dystrophy 2EnrichmentALMS1, CEP290, CEP782.30
54Kidney diseaseEnrichmentCEP290, NPHP42.30
55Skin creases, congenital symmetric circumferential, 1EnrichmentTUBB2.29
56Perry syndromeEnrichmentDCTN12.29
57Retinitis pigmentosa 23EnrichmentOFD12.29
58Simpson-golabi-behmel syndrome, type 2EnrichmentOFD12.29
59Microcephaly 3, primary, autosomal recessiveEnrichmentCDK5RAP22.29
60Microcephaly 9, primary, autosomal recessiveEnrichmentCEP1522.29
61Microcephaly and chorioretinopathy, autosomal recessive, 2EnrichmentPLK42.29
62Microcephaly 8, primary, autosomal recessiveEnrichmentCEP1352.29
63Cortical dysplasia, complex, with other brain malformations 6EnrichmentTUBB2.29
64Advanced sleep phase syndrome, familial, 2EnrichmentCSNK1D2.29
65Cone-rod dystrophy and hearing loss 1EnrichmentCEP782.29
66Microcephalic osteodysplastic primordial dwarfism, type iiEnrichmentPCNT2.29
67Leber congenital amaurosis with early-onset deafnessEnrichmentTUBB4B2.29
68Houge-janssens syndrome 2EnrichmentPPP2R1A2.29
69Long qt syndrome 11EnrichmentAKAP92.29
70MicrohydranencephalyEnrichmentNDE12.29
71Neuronopathy, distal hereditary motor, autosomal dominant 14EnrichmentDCTN12.29
72Joubert syndrome 15EnrichmentCEP412.29
73Nephronophthisis 15EnrichmentCEP1642.29
74Lissencephaly 4 with microcephalyEnrichmentNDE12.29
75Oocyte/zygote/embryo maturation arrest 23EnrichmentTUBA4A2.29
76Retinitis pigmentosa 67EnrichmentNEK22.29
77Frontotemporal dementia and/or amyotrophic lateral sclerosis 9EnrichmentTUBA4A2.29
78Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA2.29
79Seckel syndrome 6EnrichmentCEP632.29
80Microcephaly and chorioretinopathy 2EnrichmentPLK42.29
81Developmental and epileptic encephalopathy 56EnrichmentYWHAG2.29
82Dync1h1-related disordersEnrichmentDYNC1H12.29
83Cardioacrofacial dysplasia 1EnrichmentPRKACA2.29
84Neurodevelopmental disorder with microcephaly and structural brain anomaliesEnrichmentDYNC1I22.29
85HydranencephalyEnrichmentNDE12.29
86Lissencephaly due to tuba1a mutationEnrichmentTUBA1A2.29
87Nde1-related microhydranencephalyEnrichmentNDE12.29
88Congenital myopathy 26EnrichmentTUBA4A2.29
89Spastic ataxia 11, autosomal dominantEnrichmentTUBA4A2.29
90Amyotrophic lateral sclerosis type 22EnrichmentTUBA4A2.29
91Lissencephaly due to lis1 mutationEnrichmentPAFAH1B12.29
92Ppp2r1a-related neurodevelopmental disorderEnrichmentPPP2R1A2.29
93Distal 17p13.3 microdeletion syndromeEnrichmentYWHAE2.29
94Dandy-walker syndromeEnrichmentPPP1CB, TUBA1A2.28
95Isolated split hand-split foot malformationEnrichmentBTRC, SEM12.28
96Rubinstein-taybi syndrome 2EnrichmentEP3002.23
97Spastic ataxiaEnrichmentCEP290, MKS1, TMEM672.19
98Neurodevelopmental, jaw, eye, and digital syndromeEnrichmentFBXW112.19
99Noonan syndrome-like disorder with loose anagen hair 2EnrichmentPPP1CB2.19
100Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvementEnrichmentTUBB32.15
101Macrothrombocytopenia, isolated, 1, autosomal dominantEnrichmentTUBB12.15
102Oocyte/zygote/embryo maturation arrest 24EnrichmentTUBA1C2.15
103Cortical dysplasia, complex, with other brain malformations 7EnrichmentTUBB2B2.15
104Facial palsy, congenital, with ptosis and velopharyngeal dysfunctionEnrichmentTUBB62.15
105Macrothrombocytopenia, isolated, 2, autosomal dominantEnrichmentTUBA82.15
106Polymicrogyria with optic nerve hypoplasiaEnrichmentTUBA82.15
107Rubinstein-taybi syndrome 1EnrichmentEP3002.15
108Chromosome 16p13.3 deletion syndrome, proximalEnrichmentEP3002.15
109Joubert syndrome 7EnrichmentRPGRIP1L2.15
110Joubert syndrome 2EnrichmentTMEM2162.15
111Joubert syndrome 3EnrichmentAHI12.15
112Senior-loken syndrome 5EnrichmentIQCB12.15
113Orofaciodigital syndrome xivEnrichmentC2CD32.15
114Meckel syndrome, type 3EnrichmentTMEM672.15
115Joubert syndrome 6EnrichmentTMEM672.15
116Retinitis pigmentosa 98EnrichmentTMEM2162.15
117Rhyns syndromeEnrichmentTMEM672.15
118Retinitis pigmentosa 93EnrichmentCC2D2A2.15
119Meckel syndrome, type 9EnrichmentB9D12.15
120Joubert syndrome 9EnrichmentCC2D2A2.15
121Spinocerebellar ataxia 11EnrichmentTTBK22.15
122Coach syndrome 2EnrichmentCC2D2A2.15
123Coach syndrome 3EnrichmentRPGRIP1L2.15
124Meckel syndrome, type 2EnrichmentTMEM2162.15
125Senior-loken syndrome 4EnrichmentNPHP42.15
126Meckel syndrome, type 5EnrichmentRPGRIP1L2.15
127Nephronophthisis 11EnrichmentTMEM672.15
128PeritonitisEnrichmentTMEM672.15
129Meckel syndrome, type 10EnrichmentB9D22.15
130Joubert syndrome 27EnrichmentB9D12.15
131Meckel syndrome, type 8EnrichmentTCTN22.15
132Joubert syndrome 13EnrichmentTCTN12.15
133Joubert syndrome 24EnrichmentTCTN22.15
134Nephronophthisis 18EnrichmentCEP832.15
135PancreatitisEnrichmentTMEM672.15
136Polycystic kidney diseaseEnrichmentCC2D2A, CEP2902.14
137Auditory neuropathyEnrichmentCEP135, TUBB4A2.12
138Myeloma, multipleEnrichmentAURKA2.08
139Aortic aneurysm, familial thoracic 4EnrichmentNDE11.99
140Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominantEnrichmentDYNC1H11.99
141Dystonia 4, torsion, autosomal dominantEnrichmentTUBB4A1.99
142Microcephalic osteodysplastic primordial dwarfism, type iEnrichmentCLASP11.99
143Lowry-wood syndromeEnrichmentCLASP11.99
144Spondyloepiphyseal dysplasia tarda, x-linkedEnrichmentOFD11.99
145Orofaciodigital syndrome iEnrichmentOFD11.99
146Microcephaly 6, primary, autosomal recessiveEnrichmentCPAP1.99
147Seckel syndrome 4EnrichmentCPAP1.99
148Lissencephaly 1EnrichmentPAFAH1B11.99
149Muscular dystrophy, limb-girdle, autosomal recessive 3EnrichmentTUBA1A1.99
150Mosaic variegated aneuploidy syndrome 2EnrichmentCEP571.99
151Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomaliesEnrichmentDYNC1I21.99
152Roifman syndromeEnrichmentCLASP11.99
153Cortical dysplasia, complex, with other brain malformations 13EnrichmentDYNC1H11.99
154Cone-rod dystrophy and hearing loss 2EnrichmentCEP2501.99
155Megacystis-microcolon-intestinal hypoperistalsis syndrome 2EnrichmentNDE11.99
156Cortical dysplasia, complex, with other brain malformations 4EnrichmentTUBG11.99
157Autosomal recessive limb-girdle muscular dystrophy type 2dEnrichmentTUBA1A1.99
158Spinal muscular atrophy with lower extremity predominantEnrichmentDYNC1H11.99
159Senior-loken syndrome 7EnrichmentSDCCAG81.99
160Spondyloepiphyseal dysplasia tardaEnrichmentOFD11.99
161Fibrolamellar carcinomaEnrichmentPRKACA1.99
162Charcot-marie-tooth disease, axonal, type 2oEnrichmentDYNC1H11.99
163Visceral myopathy 2EnrichmentNDE11.99
164Bardet-biedl syndrome 16EnrichmentSDCCAG81.99
165Rnu4atac-opathyEnrichmentCLASP11.99
166Torsion dystonia 4EnrichmentTUBB4A1.99
167Multiple benign circumferential skin creases on limbsEnrichmentTUBB1.99
168Distal hereditary motor neuropathy type 7EnrichmentDCTN11.99
169Continuous spikes and waves during sleepEnrichmentTUBA1A1.99
170Charge syndromeEnrichmentEP3001.98
171Microcephaly and chorioretinopathy, autosomal recessive, 1EnrichmentTUBGCP61.92
172Cortical dysplasia, complex, with other brain malformations 15EnrichmentTUBGCP21.92
173Microcephaly and chorioretinopathy 1EnrichmentTUBGCP61.92
174Microcephaly and chorioretinopathy, autosomal recessive, 3EnrichmentTUBGCP41.92
175Microcephaly and chorioretinopathy 3EnrichmentTUBGCP41.92
176Genitourinary and/or brain malformation syndromeEnrichmentPPP1R12A1.89
177Noonan syndrome-like disorder with loose anagen hairEnrichmentPPP1CB1.89
178Amyotrophic lateral sclerosis 12 with or without frontotemporal dementiaEnrichmentOPTN1.89
179Amyotrophic lateral sclerosis type 12EnrichmentOPTN1.89
180Submucosal cleft palateEnrichmentUBB1.89
181Cleft hard palateEnrichmentUBB1.89
182Colorectal cancerEnrichmentAURKA1.89
183Cortical dysplasia, complex, with other brain malformations 1EnrichmentTUBB31.86
184Neurodevelopmental disorder with microcephaly, hypotonia, and absent languageEnrichmentPSMB11.85
185Bone marrow failure syndrome 5EnrichmentTP531.85
186Stankiewicz-isidor syndromeEnrichmentPSMD121.85
187Papilloma of choroid plexusEnrichmentTP531.85
188Basal cell carcinoma 7EnrichmentTP531.85
189Anaplastic thyroid carcinomaEnrichmentTP531.85
190Developmental and epileptic encephalopathy 109EnrichmentFZR11.85
191Deafness, cataract, impaired intellectual development, and polyneuropathyEnrichmentPSMC31.85
192Ductal carcinoma in situEnrichmentTP531.85
193Thyroid gland undifferentiated carcinomaEnrichmentTP531.85
194Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP531.85
195Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP531.85
196Choroid plexus cancerEnrichmentTP531.85
197Pleomorphic xanthoastrocytomaEnrichmentTP531.85
198Pallister-hall-like syndromeEnrichmentSCLT11.85
199Nephronophthisis 1EnrichmentNPHP11.85
200Nephronophthisis 4EnrichmentNPHP41.85
201Joubert syndrome 18EnrichmentTCTN31.85
202Leber congenital amaurosis 6EnrichmentMKS11.85
203Orofaciodigital syndrome ivEnrichmentTCTN31.85
204Bardet-biedl syndrome 13EnrichmentMKS11.85
205Joubert syndrome 28EnrichmentMKS11.85
206Cerebellar malformationEnrichmentTMEM671.85
207Senior-boichis syndromeEnrichmentTMEM671.85
208Spondyloepiphyseal dysplasia congenitaEnrichmentCLASP11.82
209Alstrom syndromeEnrichmentALMS11.82
210Simpson-golabi-behmel syndrome, type 1EnrichmentOFD11.82
211Band heterotopiaEnrichmentPAFAH1B11.82
212Senior-loken syndrome 6EnrichmentCEP2901.82
213Leukodystrophy, hypomyelinating, 6EnrichmentTUBB4A1.82
214Joubert syndrome 5EnrichmentCEP2901.82
215Myopathy, myofibrillar, 7EnrichmentCEP631.82
216End stage renal diseaseEnrichmentALMS11.82
217Cog7-congenital disorder of glycosylationEnrichmentCEP2901.82
218Occipital encephaloceleEnrichmentCEP2901.82
219Advanced sleep phase syndromeEnrichmentCSNK1D1.82
220Tricuspid valve insufficiencyEnrichmentNDE11.82
221Cerebral palsyEnrichmentTUBA1A, TUBB4A1.78
222Polydactyly, postaxial, type a1EnrichmentEP3001.76
223Rare genetic intellectual disabilityEnrichmentEP3001.76
224Charcot-marie-tooth diseaseEnrichmentDCTN1, DYNC1H11.74
225Uvula, bifidEnrichmentUBB1.72
226Cleft soft palateEnrichmentUBB1.72
227Glaucoma, normal tensionEnrichmentOPTN1.72
228Polycystic liver diseaseEnrichmentCDC25A1.70
229Autosomal dominant polycystic liver diseaseEnrichmentCDC25A1.70
230Meckel syndrome, type 4EnrichmentCEP2901.69
231Orofaciodigital syndrome iiiEnrichmentOFD11.69
232Mitral valve insufficiencyEnrichmentNDE11.69
233Orofaciodigital syndromeEnrichmentOFD11.69
234Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentTUBB11.68
235Oocyte/zygote/embryo maturation arrest 2EnrichmentTUBB81.68
236Cortical dysplasia, complex, with other brain malformations 5EnrichmentTUBB2A1.68
237West syndromeEnrichmentCSNK1E, TUBA1A1.68
238CakutEnrichmentNPHP1, NPHP41.61
239Arthrogryposis, renal dysfunction, and cholestasis 1EnrichmentCPAP1.60
240Microcephaly 1, primary, autosomal recessiveEnrichmentCPAP1.60
241Mosaic variegated aneuploidy syndrome 1EnrichmentCEP571.60
242Leber congenital amaurosis 10EnrichmentCEP2901.60
243Lissencephaly 2EnrichmentNDE11.60
244Night blindnessEnrichmentCEP2901.60
245Spinal muscular atrophyEnrichmentDYNC1H11.60
246Genetic motor neuron diseaseEnrichmentDCTN11.60
247Endometrial stromal sarcomaEnrichmentYWHAE1.60
248Eye diseaseEnrichmentAHI1, ALMS11.59
249Adrenocortical carcinoma, hereditaryEnrichmentTP531.55
250Cervical cancerEnrichmentTP531.55
251Lymphoma, hodgkin, classicEnrichmentTP531.55
252Birk-aharoni syndromeEnrichmentPSMC11.55
253Proteasome-associated autoinflammatory syndrome 3EnrichmentPSMB41.55
254Congenital fibrosarcomaEnrichmentTP531.55
255Li-fraumeni syndrome 1EnrichmentTP531.55
256SarcomaEnrichmentTP531.55
257Cervix carcinomaEnrichmentTP531.55
258Hodgkin's lymphomaEnrichmentTP531.55
259Chronic atrial and intestinal dysrhythmiaEnrichmentSGO11.55
26017q24.2 microdeletion syndromeEnrichmentPSMD121.55
261Houge-janssens syndrome 3EnrichmentPPP2CA1.55
262Primary mediastinal large b-cell lymphomaEnrichmentXPO11.55
263Pleomorphic rhabdomyosarcomaEnrichmentTP531.55
264AstigmatismEnrichmentSCLT11.55
265AnencephalyEnrichmentCC2D2A1.55
266Renal dysplasia, cysticEnrichmentCEP2901.52
267Intestinal pseudo-obstructionEnrichmentNDE11.52
268Early myoclonic encephalopathyEnrichmentTUBA1A1.52
269Kidney clear cell sarcomaEnrichmentYWHAE1.52
270Amyotrophic lateral sclerosis 10 with or without frontotemporal dementiaEnrichmentOPTN1.50
271Severe covid-19EnrichmentCENPF1.47
272Female infertility due to oocyte meiotic arrestEnrichmentTUBB81.46
273Usher syndrome, type iiiaEnrichmentCEP781.45
274Moyamoya angiopathyEnrichmentCEP781.45
275FarsightednessEnrichmentSCLT11.45
276Glaucoma, primary open angleEnrichmentOPTN1.42
277Spastic paraplegia 4, autosomal dominantEnrichmentOFD11.40
278Immunodeficiency 47EnrichmentCEP2901.40
279CryptorchidismEnrichmentTUBA1A1.40
280Mosaic variegated aneuploidy syndromeEnrichmentCEP571.40
281Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1EnrichmentTUBB2B1.38
282Proteasome-associated autoinflammatory syndrome 1EnrichmentPSMB41.38
283Osteogenic sarcomaEnrichmentTP531.38
284Nasopharyngeal carcinomaEnrichmentTP531.38
285Wieacker-wolff syndromeEnrichmentCCNH1.38
286Proteosome-associated autoinflammatory syndromeEnrichmentPSMB41.38
287Atypical teratoid rhabdoid tumorEnrichmentTP531.38
288Anaplastic astrocytomaEnrichmentTP531.38
289Squamous cell carcinomaEnrichmentTP531.38
290AdenocarcinomaEnrichmentTP531.38
291Bone osteosarcomaEnrichmentTP531.38
292Thyroid hemiagenesisEnrichmentPSMD31.38
293InfertilityEnrichmentNPHP41.38
294Motor neuron diseaseEnrichmentOPTN1.36
295Cryptorchidism, unilateral or bilateralEnrichmentTUBA1A1.35
296Ellis-van creveld syndromeEnrichmentPRKACA1.35
297Autosomal dominant non-syndromic intellectual disabilityEnrichmentDYNC1H1, RAB11A1.30
298Amyotrophic lateral sclerosis 1EnrichmentDCTN11.30
299Stickler syndromeEnrichmentALMS11.30
300Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentDCTN1, OPTN1.27
301Frontotemporal dementia 1EnrichmentDCTN11.26
302Specific learning disabilityEnrichmentYWHAG1.26
303Small cell cancer of the lungEnrichmentTP531.26
304Thyroid cancer, nonmedullary, 1EnrichmentTP531.26
305Lung sarcomatoid carcinomaEnrichmentTP531.26
306Embryonal rhabdomyosarcomaEnrichmentTP531.26
307Infantile nephronophthisisEnrichmentCEP831.25
308Bladder cancerEnrichmentCDKN1A, TP531.20
309Capillary malformations, congenitalEnrichmentCCNH1.16
310Rhabdomyosarcoma 2EnrichmentTP531.16
311LymphomaEnrichmentTP531.16
312Acute megakaryocytic leukemiaEnrichmentTP531.16
313OsteoporosisEnrichmentOFD11.16
314Cat eye syndromeEnrichmentTMEM671.16
315MyopiaEnrichmentNDE11.13
316Congenital hypothyroidismEnrichmentTUBB11.09
317Developmental dysplasia of the hip 1EnrichmentPSMC31.09
318Klippel-trenaunay-weber syndromeEnrichmentCCNH1.09
319Li-fraumeni syndromeEnrichmentTP531.09
320Telangiectasia, hereditary hemorrhagic, type 1EnrichmentCCNH1.09
321Hemangioma, capillary infantileEnrichmentCCNH1.09
322Basal cell carcinoma 1EnrichmentCCNH1.09
323Patent ductus arteriosusEnrichmentPSMC31.09
324Adrenocortical carcinomaEnrichmentTP531.09
325Breast adenocarcinomaEnrichmentTP531.09
326Acute promyelocytic leukemiaEnrichmentNUMA11.06
327Charcot-marie-tooth disease type 4EnrichmentDYNC1H11.06
328Microphthalmia/coloboma 12EnrichmentTMEM671.05
329Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactylyEnrichmentCC2D2A1.05
330ClubfootEnrichmentCC2D2A1.05
331Chronic kidney diseaseEnrichmentMKS11.05
332Esophageal cancerEnrichmentTP531.02
333Multiple endocrine neoplasia, type iEnrichmentCDKN1A1.02
334Squamous cell carcinoma, head and neckEnrichmentTP531.02
335Capillary malformation-arteriovenous malformation 1EnrichmentCCNH1.02
336Essential thrombocythemiaEnrichmentTP531.02
337Gallbladder cancerEnrichmentTP531.02
338Hereditary hemorrhagic telangiectasiaEnrichmentCCNH1.02
339B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentTP531.02
340LeukodystrophyEnrichmentALMS11.01
341Focal segmental glomerulosclerosisEnrichmentSDCCAG81.01
342Coloboma of maculaEnrichmentTMEM670.99
343Glioma susceptibility 1EnrichmentTP530.97
344Lymphoma, non-hodgkin, familialEnrichmentTP530.97
345Developmental and epileptic encephalopathy 1EnrichmentCSNK1E0.92
346Arteriovenous malformationEnrichmentCCNH0.92
347Adult hepatocellular carcinomaEnrichmentTP530.92
348Primary hyperaldosteronismEnrichmentTP530.92
349Brugada syndromeEnrichmentAKAP90.91
350Leukemia, chronic lymphocyticEnrichmentTP530.88
351Myopathy, x-linked, with excessive autophagyEnrichmentCCNH0.88
352Familial colorectal cancerEnrichmentTP530.88
353Differentiated thyroid carcinomaEnrichmentPCM10.86
354Noonan syndrome 1EnrichmentPPP1CB0.86
355Long qt syndrome 1EnrichmentAKAP90.85
356Stargardt disease 1EnrichmentALMS10.85
357Myelodysplastic syndromeEnrichmentTP530.84
358Long qt syndromeEnrichmentAKAP90.83
359Connective tissue diseaseEnrichmentOFD10.82
360Peripheral nervous system diseaseEnrichmentDYNC1H10.82
361NeuropathyEnrichmentDYNC1H10.82
362RasopathyEnrichmentPPP1CB0.81
363Usher syndromeEnrichmentCEP2500.81
364Lip and oral cavity carcinomaEnrichmentTP530.81
365Visceral heterotaxy 5EnrichmentNME70.77
366Fetal akinesia deformation sequence 1EnrichmentTUBA1A0.76
367Lung cancer susceptibility 3EnrichmentTP530.74
368MyopathyEnrichmentDYNC1H10.73
369Undetermined early-onset epileptic encephalopathyEnrichmentFZR1, YWHAG0.73
370Hereditary spastic paraplegiaEnrichmentCEP630.71
371RhabdomyosarcomaEnrichmentTP530.69
372GliosarcomaEnrichmentTP530.69
373Giant cell glioblastomaEnrichmentTP530.67
374Sensorineural hearing lossEnrichmentCEP780.66
375Patent foramen ovaleEnrichmentPSMC30.65
376Diffuse large b-cell lymphomaEnrichmentTP530.63
377Complex neurodevelopmental disorderEnrichmentFBXW11, PPP2CA, PSMD120.59
378HepatoblastomaEnrichmentTP530.59
379Optic atrophy plus syndromeEnrichmentTUBB60.57
380Hepatocellular carcinomaEnrichmentTP530.57
381Myocardial infarctionEnrichmentPSMA60.57
382Diamond-blackfan anemia 1EnrichmentTP530.56
383Breast cancerEnrichmentHMMR, TP530.55
384ThrombocytopeniaEnrichmentTUBB10.54
385Pancreatic cancerEnrichmentTP530.52
386Primary ciliary dyskinesiaEnrichmentOFD10.49
387Prostate cancerEnrichmentTP530.47
388Lung cancerEnrichmentPPP2R1B0.44
389Diamond-blackfan anemiaEnrichmentTP530.40
390Ovarian cancerEnrichmentHMMR0.38
391Autism spectrum disorderEnrichmentDYNC1H10.37
392Leukemia, acute myeloidEnrichmentTP530.36
393Gastric cancerEnrichmentTP530.34
394Hereditary breast carcinomaEnrichmentTP530.33
395Hereditary breast ovarian cancer syndromeEnrichmentTP530.27
396Inherited cancer-predisposing syndromeEnrichmentTP530.07

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