Packaging Of Telomere Ends

Pathway network for the Packaging Of Telomere Ends SuperPath

Sources:
  • Reactome
  • GeneGo (Thomson Reuters)

Pathways in the Packaging Of Telomere Ends SuperPath

#NameSourceGenes
1Packaging Of Telomere EndsReactome
2Base Excision RepairReactome
3Signal transduction Activin A signaling regulationGeneGo (Thomson Reuters)
4DNA Damage/Telomere Stress Induced SenescenceReactome
5Nucleosome assemblyReactome
6Deposition of new CENPA-containing nucleosomes at the centromereReactome
7Inhibition of DNA recombination at telomereReactome
8Base-Excision Repair, AP Site FormationReactome
9Recognition and association of DNA glycosylase with site containing an affected pyrimidineReactome
10DepyrimidinationReactome
11Cleavage of the damaged pyrimidineReactome
12Recognition and association of DNA glycosylase with site containing an affected purineReactome
13Cleavage of the damaged purineReactome
14DepurinationReactome
15Replacement of protamines by nucleosomes in the male pronucleusReactome
16Formation of Senescence-Associated Heterochromatin Foci (SAHF)Reactome

Gene overlap in member pathways for Packaging Of Telomere Ends SuperPath

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

Disorders associated with Packaging Of Telomere Ends SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Tessadori-bicknell-van haaften neurodevelopmental syndrome 4EnrichmentH2BC12, H4C1, H4C97.56
2Inherited cancer-predisposing syndromeEnrichmentATM, CDKN1B, MRE11, NBN, POT1, RAD50, RB1, TP536.29
3Ovarian cancerEnrichmentATM, CDKN1B, MRE11, NBN, RAD50, RB1, TP535.95
4Osteogenic sarcomaEnrichmentRB1, TP535.83
5Squamous cell carcinomaEnrichmentRB1, TP535.83
6Bone osteosarcomaEnrichmentRB1, TP535.83
7Small cell cancer of the lungEnrichmentRB1, TP535.53
8Tessadori-bicknell-van haaften neurodevelopmental syndrome 1EnrichmentH4C1, H4C35.03
9Tessadori-bicknell-van haaften neurodevelopmental syndrome 2EnrichmentH4C1, H4C115.03
10Bryant-li-bhoj neurodevelopmental syndrome 2EnrichmentH3-3A, H3-3B5.03
11Hereditary breast ovarian cancer syndromeEnrichmentATM, MRE11, NBN, RAD50, TP534.96
12Bladder cancerEnrichmentATM, CDKN1A, RB1, TP534.78
13Leukemia, chronic lymphocyticEnrichmentATM, POT1, TP534.76
14Tessadori-bicknell-van haaften neurodevelopmental syndrome 3EnrichmentH4C1, H4C54.55
15Lip and oral cavity carcinomaEnrichmentRB1, TP534.49
16Melanoma, cutaneous malignant 1EnrichmentACD, POT1, TERF2IP4.48
17Lung cancer susceptibility 3EnrichmentRB1, TP534.35
18Familial colorectal cancer type xEnrichmentMUTYH, POLD1, POLE4.35
19Breast cancerEnrichmentATM, MRE11, NBN, RAD50, TP534.30
20AdenocarcinomaEnrichmentATM, TP534.07
21Hereditary breast carcinomaEnrichmentATM, NBN, RAD50, TP534.05
22Familial thoracic aortic aneurysm and aortic dissectionEnrichmentSKI, SMAD2, SMAD3, SMAD44.00
23Polymerase proofreading-related polyposisEnrichmentPOLD1, POLE3.89
24Nijmegen breakage syndrome-like disorderEnrichmentMRE11, RAD503.77
25Hoyeraal-hreidarsson syndromeEnrichmentACD, TINF23.69
26Hepatocellular carcinomaEnrichmentNBN, RAD50, TP533.67
27Pancreatic cancerEnrichmentATM, NBN, TP533.50
28Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3003.35
29Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3003.35
30Prostate cancerEnrichmentATM, NBN, TP533.31
31Multiple endocrine neoplasia, type iEnrichmentCDKN1A, CDKN1B3.23
32Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typicalEnrichmentLMNB13.13
33Silver-russell syndrome 5EnrichmentHMGA23.13
34Bone marrow failure syndrome 5EnrichmentTP533.13
35Papilloma of choroid plexusEnrichmentTP533.13
36Basal cell carcinoma 7EnrichmentTP533.13
37Anaplastic thyroid carcinomaEnrichmentTP533.13
38Adult onset demyelinating leukodystrophyEnrichmentLMNB13.13
39Stature quantitative trait locus 9EnrichmentHMGA23.13
40Microcephaly 26, primary, autosomal dominantEnrichmentLMNB13.13
41Ductal carcinoma in situEnrichmentTP533.13
42Thyroid gland undifferentiated carcinomaEnrichmentTP533.13
43Trilateral retinoblastomaEnrichmentRB13.13
44Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP533.13
45Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP533.13
46Choroid plexus cancerEnrichmentTP533.13
47Pleomorphic xanthoastrocytomaEnrichmentTP533.13
48Lung oat cell carcinomaEnrichmentRB13.13
49Colonic benign neoplasmEnrichmentATM, MRE113.00
50Loeys-dietz syndromeEnrichmentSMAD2, SMAD32.98
51Adrenocortical carcinoma, hereditaryEnrichmentTP532.83
52Cervical cancerEnrichmentTP532.83
53Salivary gland adenoma, pleomorphicEnrichmentHMGA22.83
54Chromosome 13q14 deletion syndromeEnrichmentRB12.83
55Lymphoma, hodgkin, classicEnrichmentTP532.83
56Congenital fibrosarcomaEnrichmentTP532.83
57Li-fraumeni syndrome 1EnrichmentTP532.83
58SarcomaEnrichmentTP532.83
59Cervix carcinomaEnrichmentTP532.83
60Hodgkin's lymphomaEnrichmentTP532.83
61Autosomal dominant primary microcephalyEnrichmentLMNB12.83
6212q14 microdeletion syndromeEnrichmentHMGA22.83
63Familial retinoblastomaEnrichmentRB12.83
64Pleomorphic rhabdomyosarcomaEnrichmentTP532.83
65Gastric cancerEnrichmentATM, NBN, TP532.80
66Breast-ovarian cancer, familial 1EnrichmentATM, NBN2.67
67RetinoblastomaEnrichmentRB12.66
68Nasopharyngeal carcinomaEnrichmentTP532.66
69Woolly hair, autosomal recessive 3EnrichmentRB12.66
70Hypotrichosis 8EnrichmentRB12.66
71Dedifferentiated liposarcomaEnrichmentHMGA22.66
72Atypical teratoid rhabdoid tumorEnrichmentTP532.66
73Anaplastic astrocytomaEnrichmentTP532.66
74Well-differentiated liposarcomaEnrichmentHMGA22.66
75Dyskeratosis congenitaEnrichmentPOT1, TINF22.64
76Thyroid cancer, nonmedullary, 1EnrichmentTP532.53
77Lynch syndrome 4EnrichmentRB12.53
78Lung sarcomatoid carcinomaEnrichmentTP532.53
79Embryonal rhabdomyosarcomaEnrichmentTP532.53
80Silver-russell syndrome due to a point mutationEnrichmentHMGA22.53
81Rare genetic intellectual disabilityEnrichmentCREBBP, EP3002.52
82Intellectual developmental disorder, autosomal recessive 44EnrichmentMETTL232.51
83Bryant-li-bhoj neurodevelopmental syndrome 1EnrichmentH3-3A2.51
84GliosarcomaEnrichmentATM, TP532.49
85Myeloma, multipleEnrichmentCREBBP, H2AC16, H2AC172.44
86Rhabdomyosarcoma 2EnrichmentTP532.43
87LymphomaEnrichmentTP532.43
88Acute megakaryocytic leukemiaEnrichmentTP532.43
89Giant cell glioblastomaEnrichmentATM, TP532.43
90Tumor predisposition syndrome 3EnrichmentPOT12.42
91Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8EnrichmentPOT12.42
92High-grade astrocytoma with piloid featuresEnrichmentPOT12.42
93Cerebroretinal microangiopathy with calcifications and cysts 3EnrichmentPOT12.42
94Li-fraumeni syndromeEnrichmentTP532.35
95Adrenocortical carcinomaEnrichmentTP532.35
96Breast adenocarcinomaEnrichmentTP532.35
97Melanoma, uveal 1EnrichmentMBD42.35
98Familial adenomatous polyposis 3EnrichmentNTHL12.35
99Tumor predisposition syndrome 2EnrichmentMBD42.35
100Diffuse large b-cell lymphomaEnrichmentNBN, TP532.34
101Intellectual disability-hypotonic facies syndrome, x-linked, 1EnrichmentATRX2.31
102Gastric neuroendocrine neoplasmEnrichmentATRX2.31
103Esophageal cancerEnrichmentTP532.29
104Silver-russell syndrome 1EnrichmentHMGA22.29
105Squamous cell carcinoma, head and neckEnrichmentTP532.29
106Essential thrombocythemiaEnrichmentTP532.29
107Gallbladder cancerEnrichmentTP532.29
108B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentTP532.29
109Ataxia-telangiectasia-like disorder 1EnrichmentMRE112.27
110Neuroendocrine tumorEnrichmentCDKN1B2.27
111Endometrial serous adenocarcinomaEnrichmentATM2.27
112B-cell non-hodgkin lymphomaEnrichmentATM2.27
113Spermatogenic failure, x-linked, 9EnrichmentRBBP72.27
114Microcephaly 4, primary, autosomal recessiveEnrichmentKNL12.27
115Short stature and microcephaly with genital anomaliesEnrichmentCENPT2.27
116Acute myeloid leukemia with multilineage dysplasiaEnrichmentNPM12.27
117Acute myeloid leukemia with npm1 somatic mutationsEnrichmentNPM12.27
118Buschke-ollendorff syndromeEnrichmentLEMD32.26
119Hypothyroidism, central, with testicular enlargementEnrichmentIGSF12.26
120Shprintzen-goldberg craniosynostosis syndromeEnrichmentSKI2.26
121Radioulnar synostosis with amegakaryocytic thrombocytopenia 2EnrichmentMECOM2.26
122Ovary adenocarcinomaEnrichmentINHBA2.26
123Loeys-dietz syndrome 6EnrichmentSMAD22.26
124Colorectal cancer 3EnrichmentSMAD72.26
125Menke-hennekam syndrome 1EnrichmentCREBBP2.26
126Melorheostosis with osteopoikilosisEnrichmentLEMD32.26
127Congenital heart defects, multiple types, 8, with or without heterotaxyEnrichmentSMAD22.26
128Heritable thoracic aortic diseaseEnrichmentSMAD42.26
129Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP2.26
130Chromosome 15q24 deletion syndromeEnrichmentSIN3A2.26
131Foxg1 syndrome due to intragenic alterationEnrichmentFOXG12.26
132Foxg1 syndrome due to 14q12 microdeletionEnrichmentFOXG12.26
133Menke-hennekam syndromeEnrichmentCREBBP2.26
134Isolated osteopoikilosisEnrichmentLEMD32.26
135Glioma susceptibility 1EnrichmentTP532.23
136Lymphoma, non-hodgkin, familialEnrichmentTP532.23
137Complex neurodevelopmental disorderEnrichmentH4C3, H4C5, H4C92.18
138Adult hepatocellular carcinomaEnrichmentTP532.18
139Primary hyperaldosteronismEnrichmentTP532.18
140Cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and impaired intellectual developmentEnrichmentPOLE2.18
141Colorectal cancer 10EnrichmentPOLD12.18
142Ataxia-oculomotor apraxia 4EnrichmentPNKP2.18
143Colorectal cancer 12EnrichmentPOLE2.18
144Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 6EnrichmentRPA12.18
145Immunodeficiency 120EnrichmentPOLD12.18
146Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndromeEnrichmentPOLD12.18
147Ataxia-telangiectasia-like disorder 2EnrichmentPCNA2.18
148Immunodeficiency 96EnrichmentLIG12.18
149Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizuresEnrichmentADPRS2.18
150Spinocerebellar ataxia, autosomal recessive 26EnrichmentXRCC12.18
151Morimoto-ryu-malicdan neuromuscular syndromeEnrichmentRFC42.18
152Immunodeficiency 122EnrichmentPOLD32.18
153Familial colorectal cancerEnrichmentTP532.13
154Revesz syndromeEnrichmentTINF22.12
155Dyskeratosis congenita, autosomal dominant 3EnrichmentTINF22.12
156OligodendrogliomaEnrichmentPOT12.12
157Anaplastic oligodendrogliomaEnrichmentPOT12.12
158Myelodysplastic syndromeEnrichmentTP532.09
159Familial adenomatous polyposis 2EnrichmentMUTYH2.09
160Digeorge syndromeEnrichmentHIRA2.05
161Congenital disorder of deglycosylation 2EnrichmentNEIL12.05
162Immunodeficiency with hyper-igm, type 5EnrichmentUNG2.05
163Alpha-thalassemia myelodysplasia syndromeEnrichmentATRX2.01
164Waardenburg syndrome, type 4cEnrichmentPOLR2F2.01
165Alpha-thalassemia/impaired intellectual development syndrome, x-linkedEnrichmentATRX2.01
166Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung diseaseEnrichmentPOLR2F2.01
167Alpha thalassemia-x-linked intellectual disability syndromeEnrichmentATRX2.01
168Multiple endocrine neoplasia, type ivEnrichmentCDKN1B1.97
169Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalitiesEnrichmentKAT51.97
170Cardiac valvular dysplasia, x-linkedEnrichmentATM1.97
171High grade gliomaEnrichmentATM1.97
172T-cell prolymphocytic leukemiaEnrichmentATM1.97
173Immunodeficiency, common variable, 15EnrichmentRUVBL11.97
174Body mass index quantitative trait locus 19EnrichmentCENPO1.97
175Degenerative disc diseaseEnrichmentCENPP1.97
176Methylmalonic aciduria and homocystinuria, cbll typeEnrichmentCENPT1.97
177Acute myeloid leukemia without maturationEnrichmentNPM11.97
178Lymphomatoid papulosisEnrichmentNPM11.97
179Primary cutaneous anaplastic large cell lymphomaEnrichmentNPM11.97
180Myhre syndromeEnrichmentSMAD41.96
181Thumb deformityEnrichmentCREBBP1.96
182Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD41.96
183Heterotaxy, visceral, 4, autosomalEnrichmentACVR2B1.96
184Loeys-dietz syndrome 3EnrichmentSMAD31.96
185Menke-hennekam syndrome 2EnrichmentEP3001.96
186Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP1.96
187OsteopoikilosisEnrichmentLEMD31.96
188Witteveen-kolk syndromeEnrichmentSIN3A1.96
189Radioulnar synostosisEnrichmentMECOM1.96
190Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)EnrichmentMECOM1.96
191Submucosal cleft palateEnrichmentUBB1.96
192Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndromeEnrichmentMECOM1.96
193Cleft hard palateEnrichmentUBB1.96
194Dyskeratosis congenita, autosomal dominant 6EnrichmentACD1.95
195RhabdomyosarcomaEnrichmentTP531.93
196Spastic paraplegia 7, autosomal recessiveEnrichmentMUTYH1.92
197Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaliesEnrichmentPOLE1.88
198Charcot-marie-tooth disease, axonal, type 2b2EnrichmentPNKP1.88
199Cerebellar ataxia, neuropathy, and vestibular areflexia syndromeEnrichmentRFC11.88
200Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiencyEnrichmentPOLE1.88
201Charcot-marie-tooth disease type 2b2EnrichmentPNKP1.88
202Microcephaly, seizures, and developmental delayEnrichmentPNKP1.88
203Facial dysmorphism, immunodeficiency, livedo, and short statureEnrichmentPOLE1.88
204Mitochondrial dna depletion syndrome 20EnrichmentLIG31.88
205Waardenburg syndrome, type 2aEnrichmentPOLR2F1.83
206Alpha thalassemia-intellectual disability syndrome type 1EnrichmentATRX1.83
207HepatoblastomaEnrichmentTP531.81
208Ataxia-telangiectasiaEnrichmentATM1.79
209Nijmegen breakage syndromeEnrichmentNBN1.79
210Polycythemia veraEnrichmentATM1.79
211Koolen-de vries syndromeEnrichmentATM1.79
212Methylmalonic aciduria and homocystinuria, cblx typeEnrichmentCENPT1.79
213Neurodevelopmental disorder with progressive spasticity and brain abnormalitiesEnrichmentRUVBL11.79
214PilomatrixomaEnrichmentMUTYH1.79
215Juvenile polyposis syndromeEnrichmentSMAD41.78
216Uvula, bifidEnrichmentUBB1.78
217Transposition of the great arteries, dextro-loopedEnrichmentACVR1B1.78
218Cleft soft palateEnrichmentUBB1.78
219Tethered spinal cord syndromeEnrichmentCREBBP1.78
220Loeys-dietz syndrome 1EnrichmentSMAD21.78
221Intraocular pressure quantitative trait locusEnrichmentCREBBP1.78
222Diamond-blackfan anemia 1EnrichmentTP531.77
223Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalitiesEnrichmentPOLR2A1.71
224Childhood apraxia of speechEnrichmentRFC31.70
225Colorectal cancerEnrichmentMUTYH, POLD1, POLE1.70
226Familial adenomatous polyposis 1EnrichmentMUTYH1.70
227Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemiaEnrichmentMRE111.67
228Mantle cell lymphomaEnrichmentATM1.67
229Primary hyperparathyroidismEnrichmentCDKN1B1.67
230Oculomotor apraxiaEnrichmentATM1.67
231Orofacial cleftEnrichmentFST1.66
232Aortic aneurysmEnrichmentSMAD31.66
233Orofacial clefting syndromeEnrichmentFST1.66
234Dyskeratosis congenita, autosomal dominant 1EnrichmentTINF21.65
235Non-immune hydrops fetalisEnrichmentUBN11.65
236Clear cell renal cell carcinomaEnrichmentOGG11.62
237Hypogonadotropic hypogonadism 1 with or without anosmiaEnrichmentPOLR2F1.61
238Dyskeratosis congenita, autosomal dominant 2EnrichmentTINF21.58
239Diamond-blackfan anemiaEnrichmentTP531.58
240Developmental and epileptic encephalopathy 12EnrichmentPNKP1.58
241GlioblastomaEnrichmentATM1.57
242Acute myeloid leukemia with maturationEnrichmentNPM11.57
243Goldberg-shprintzen syndromeEnrichmentSKI1.56
244Rubinstein-taybi syndrome 2EnrichmentEP3001.56
2452q23.1 microduplication syndromeEnrichmentACVR2A1.56
246Generalized juvenile polyposis/juvenile polyposis coliEnrichmentSMAD41.56
247Familial cerebral saccular aneurysmEnrichmentTGFBR31.56
248Hereditary clear cell renal cell carcinomaEnrichmentOGG11.55
249ThrombocytopeniaEnrichmentMECOM, SMAD41.54
250Leukemia, acute myeloidEnrichmentTP531.54
251Waardenburg syndrome, type 4aEnrichmentPOLR2F1.53
252Waardenburg syndromeEnrichmentPOLR2F1.53
253Type 2 diabetes mellitusEnrichmentHMGA11.52
254HypertrichosisEnrichmentCREBBP1.49
255Waardenburg syndrome, type 1EnrichmentPOLR2F1.47
256Waardenburg syndrome, type 2eEnrichmentPOLR2F1.47
257Renal cell carcinoma, papillary, 1EnrichmentATM1.43
258Rett syndromeEnrichmentFOXG11.42
259Hereditary hemorrhagic telangiectasiaEnrichmentSMAD41.42
260Ewing sarcomaEnrichmentSMARCA51.37
261Rett syndrome, congenital variantEnrichmentFOXG11.36
262Charge syndromeEnrichmentEP3001.31
263Familial thoracic aortic aneurysm and dissectionEnrichmentSMAD31.31
264Lynch syndrome 1EnrichmentATM1.28
265Aplastic anemiaEnrichmentNBN1.28
266Optic nerve diseaseEnrichmentFOXG11.27
267Immune deficiency diseaseEnrichmentATM1.24
268Leukemia, acute lymphoblasticEnrichmentNBN1.24
269Uterine corpus cancerEnrichmentATM1.24
270Mitochondrial neurogastrointestinal encephalomyopathyEnrichmentLIG31.24
271Renal cell carcinoma, nonpapillaryEnrichmentOGG11.23
272Premature menopauseEnrichmentNBN1.17
273Acute promyelocytic leukemiaEnrichmentNPM11.17
274Chromosome 1p36 deletion syndromeEnrichmentSKI1.16
275Stereotypic movement disorderEnrichmentFOXG11.16
276Combined immunodeficiencyEnrichmentPOLD11.15
277Combined t cell and b cell immunodeficiencyEnrichmentPOLD11.15
278Combined t and b cell immunodeficiencyEnrichmentPOLD11.15
279Aortic aneurysm, familial thoracic 1EnrichmentSMAD31.13
280Heart diseaseEnrichmentCREBBP1.13
281Polydactyly, postaxial, type a1EnrichmentEP3001.10
282Corpus callosum, agenesis ofEnrichmentCREBBP1.10
283Isolated corpus callosum agenesisEnrichmentCREBBP1.10
284Septopreoptic holoprosencephalyEnrichmentFOXH11.10
285Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP1.10
286Midline interhemispheric variant of holoprosencephalyEnrichmentFOXH11.10
287Endometrial cancerEnrichmentMUTYH1.09
288Isolated congenital microcephalyEnrichmentFOXG11.07
289Microform holoprosencephalyEnrichmentFOXH11.07
290Lobar holoprosencephalyEnrichmentFOXH11.07
291Polycystic liver diseaseEnrichmentRUVBL11.06
292Autosomal dominant polycystic liver diseaseEnrichmentRUVBL11.06
293Esophageal atresia/tracheoesophageal fistulaEnrichmentPOLR2B1.05
294Alobar holoprosencephalyEnrichmentFOXH11.05
295Semilobar holoprosencephalyEnrichmentFOXH11.02
296Arteriovenous malformations of the brainEnrichmentLEMD31.00
297Ehlers-danlos syndromeEnrichmentSMAD31.00
298LissencephalyEnrichmentNBN0.97
299Kallmann syndromeEnrichmentPOLR2F0.97
300Early infantile developmental and epileptic encephalopathyEnrichmentPNKP0.95
301Visceral heterotaxyEnrichmentACVR2B0.94
302Congenital nervous system abnormalityEnrichmentCREBBP, FOXG10.93
303Nervous system diseaseEnrichmentCREBBP, FOXG10.93
304Parkinson's diseaseEnrichmentRFC10.92
305ScoliosisEnrichmentCREBBP0.90
306Williams-beuren syndromeEnrichmentRFC20.90
307Hirschsprung disease 1EnrichmentPOLR2F0.87
308StrabismusEnrichmentFOXG10.86
309Parkinson disease, late-onsetEnrichmentRFC10.83
310Primary autosomal recessive microcephalyEnrichmentKNL10.80
311Connective tissue diseaseEnrichmentSMAD30.79
312Autosomal recessive non-syndromic intellectual disabilityEnrichmentMETTL230.78
313Body mass index quantitative trait locus 11EnrichmentCENPO0.63
314Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentATRX0.62
315Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentCENPP0.61
316Undetermined early-onset epileptic encephalopathyEnrichmentFOXG10.57
317Primary ovarian insufficiencyEnrichmentNBN0.56
318Rare genetic deafnessEnrichmentPOLR2F0.49
319AutismEnrichmentCREBBP0.48
320MicrocephalyEnrichmentATRX0.34

Loading...
Loading...
Loading...