Mitotic G1 phase and G1/S transition

Pathway network for the Mitotic G1 phase and G1/S transition SuperPath

Sources:
  • Reactome
  • WikiPathways

Pathways in the Mitotic G1 phase and G1/S transition SuperPath

#NameSourceGenes
1Mitotic G1 phase and G1/S transitionReactome
2G1/S TransitionReactome
3Cell cycleWikiPathways
4G1 to S cell cycle controlWikiPathways

Gene overlap in member pathways for Mitotic G1 phase and G1/S transition SuperPath

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

Disorders associated with Mitotic G1 phase and G1/S transition SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Meier-gorlin syndrome 1EnrichmentCDC45, CDC6, CDT1, GMNN, MCM7, ORC1, ORC4, ORC616.00
2Multiple endocrine neoplasia, type iEnrichmentCDKN1A, CDKN1B, CDKN2B, CDKN2C7.81
3Li-fraumeni syndromeEnrichmentCDKN2A, CHEK2, MDM2, TP537.06
4Bladder cancerEnrichmentATM, CDKN1A, CDKN2A, RB1, TP536.66
5Osteogenic sarcomaEnrichmentCHEK2, RB1, TP536.17
6Bone osteosarcomaEnrichmentCHEK2, RB1, TP536.17
7Loeys-dietz syndromeEnrichmentSMAD2, SMAD3, TGFB2, TGFB36.15
8Gastric cancerEnrichmentATM, CDK4, CDKN2A, CHEK2, SMAD4, TP535.71
9Pancreatic cancerEnrichmentATM, CDKN2A, CHEK2, SMAD4, TP535.64
10Lip and oral cavity carcinomaEnrichmentABL1, CDKN2A, RB1, TP535.56
11Inherited cancer-predisposing syndromeEnrichmentATM, CDK4, CDKN1B, CDKN2A, POLE, RB1, TP535.56
12Colorectal cancerEnrichmentATM, BUB1, CCND1, CHEK2, EP300, SMAD4, TP534.94
13Leukemia, chronic lymphocyticEnrichmentATM, CCND1, TP534.93
14Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaliesEnrichmentCDKN1C, POLE4.66
15B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentABL1, CDKN2A, TP534.64
16Mosaic variegated aneuploidy syndromeEnrichmentBUB1, BUB3, MAD1L14.44
17Familial thoracic aortic aneurysm and aortic dissectionEnrichmentSMAD2, SMAD3, SMAD4, TGFB2, TGFB34.39
18Cornelia de lange syndrome 1EnrichmentRAD21, SMC1A, SMC34.26
19Cornelia de lange syndromeEnrichmentRAD21, SMC1A, SMC34.26
20Melanoma, cutaneous malignant 1EnrichmentCDK4, CDKN2A, CDKN2B4.19
21Dedifferentiated liposarcomaEnrichmentCDK4, MDM24.18
22Squamous cell carcinomaEnrichmentRB1, TP534.18
23AdenocarcinomaEnrichmentATM, TP534.18
24Well-differentiated liposarcomaEnrichmentCDK4, MDM24.18
25Li-fraumeni syndrome 1EnrichmentCHEK2, TP534.11
26SarcomaEnrichmentCHEK2, TP534.11
27Loeys-dietz syndrome 4EnrichmentTGFB2, TGFB34.11
28Ovarian cancerEnrichmentATM, CDKN1B, CDKN2A, RB1, TP533.95
29Prostate cancerEnrichmentATM, CHEK2, MAD1L1, TP533.93
30Small cell cancer of the lungEnrichmentRB1, TP533.88
31Mantle cell lymphomaEnrichmentATM, CCND13.88
32Myeloma, multipleEnrichmentATM, CCND1, CDKN2C, TP533.86
33Adrenocortical carcinomaEnrichmentCDKN2A, TP533.49
34Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, CCND23.21
35EnophthalmosEnrichmentDYRK1A, MCM73.21
36Precursor t-cell acute lymphoblastic leukemiaEnrichmentABL1, CDKN2A, MYC2.98
37Wiedemann-steiner syndromeEnrichmentSMC1A, SMC32.94
38Familial colorectal cancer type xEnrichmentATM, POLE2.93
39Gallbladder cancerEnrichmentSMAD4, TP532.80
40Hereditary hemorrhagic telangiectasiaEnrichmentCCNH, SMAD42.80
41Lung cancer susceptibility 3EnrichmentRB1, TP532.72
42MyelofibrosisEnrichmentJAK2, SRC2.67
43GliosarcomaEnrichmentATM, TP532.60
44Colonic benign neoplasmEnrichmentATM, CHEK22.57
45Giant cell glioblastomaEnrichmentATM, TP532.55
46Lynch syndrome 1EnrichmentATM, CHEK22.48
47MelanomaEnrichmentCDKN2A, CHEK22.48
48PolymicrogyriaEnrichmentAKT3, PSMC32.47
49Uterine corpus cancerEnrichmentATM, CHEK22.39
50Breast cancerEnrichmentATM, CDKN2B, CHEK2, TP532.36
51MicrocephalyEnrichmentABL1, EP300, MCM7, SMC1A, YWHAG2.33
52Cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and impaired intellectual developmentEnrichmentPOLE2.33
53Melanoma, cutaneous malignant 3EnrichmentCDK42.33
54Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3EnrichmentCCND22.33
55Lactose intolerance, adult typeEnrichmentMCM62.33
56Microcephaly 12, primary, autosomal recessiveEnrichmentCDK62.33
57Meier-gorlin syndrome 3EnrichmentORC62.33
58Osteogenesis imperfecta, type xviEnrichmentCREB3L12.33
59Meier-gorlin syndrome 2EnrichmentORC42.33
60Accelerated tumor formationEnrichmentMDM22.33
61Colorectal cancer 12EnrichmentPOLE2.33
62Hypertriglyceridemia 2EnrichmentCREB3L32.33
63Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 6EnrichmentRPA12.33
64Lessel-kubisch syndromeEnrichmentMDM22.33
65Bone marrow failure syndrome 5EnrichmentTP532.33
66Papilloma of choroid plexusEnrichmentTP532.33
67AnisometropiaEnrichmentMCM72.33
68Basal cell carcinoma 7EnrichmentTP532.33
69Anaplastic thyroid carcinomaEnrichmentTP532.33
70Immunodeficiency 54EnrichmentMCM42.33
71Deafness, autosomal dominant 70EnrichmentMCM22.33
72Meier-gorlin syndrome 8EnrichmentMCM52.33
73Neuroendocrine tumorEnrichmentCDKN1B2.33
74Ataxia-telangiectasia-like disorder 2EnrichmentPCNA2.33
75Endometrial serous adenocarcinomaEnrichmentATM2.33
76Ductal carcinoma in situEnrichmentTP532.33
77Meier-gorlin syndrome 7EnrichmentCDC452.33
78Thyroid gland undifferentiated carcinomaEnrichmentTP532.33
79Trilateral retinoblastomaEnrichmentRB12.33
80Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP532.33
81Cdkn2a cancer predispositionEnrichmentCDKN2A2.33
82Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP532.33
83B-cell non-hodgkin lymphomaEnrichmentATM2.33
84Choroid plexus cancerEnrichmentTP532.33
85Pleomorphic xanthoastrocytomaEnrichmentTP532.33
86Intrauterine growth restriction-short stature-early adult-onset diabetes syndromeEnrichmentCDKN1C2.33
87Lung oat cell carcinomaEnrichmentRB12.33
88Breast-ovarian cancer, familial 1EnrichmentATM, CHEK22.25
89Hereditary breast carcinomaEnrichmentATM, CHEK2, TP532.16
90Developmental and epileptic encephalopathy 85 with or without midline brain defectsEnrichmentSMC1A2.05
91Holoprosencephaly 13, x-linkedEnrichmentSTAG22.05
92Cornelia de lange syndrome 3 with or without midline brain defectsEnrichmentSMC32.05
93Deafness, autosomal recessive 32, with or without immotile spermEnrichmentCDC14A2.05
94Seckel syndrome 1EnrichmentATR2.05
95Cornelia de lange syndrome 4 with or without midline brain defectsEnrichmentRAD212.05
96Fanconi anemia, complementation group vEnrichmentMAD2L22.05
97Brunet-wagner neurodevelopmental syndromeEnrichmentRBL22.05
98Oocyte/zygote/embryo maturation arrest 14EnrichmentCDC202.05
99Mullegama-klein-martinez syndromeEnrichmentSTAG22.05
100Ferguson-bonni neurodevelopmental syndromeEnrichmentANAPC72.05
101Developmental and epileptic encephalopathy 109EnrichmentFZR12.05
102Tumor predisposition syndrome 4EnrichmentCHEK22.05
103Camurati-engelmann disease 2EnrichmentTGFB22.05
104Intellectual developmental disorder, autosomal dominant 47EnrichmentSTAG12.05
105Rothmund-thomson syndrome, type 1EnrichmentANAPC12.05
106Mungan syndromeEnrichmentRAD212.05
107Cutaneous telangiectasia and cancer syndrome, familialEnrichmentATR2.05
108Immunodeficiency 26 with or without neurologic abnormalitiesEnrichmentPRKDC2.05
109Loeys-dietz syndrome 6EnrichmentSMAD22.05
110Meier-gorlin syndrome 5EnrichmentCDC62.05
111Developmental and epileptic encephalopathy 56EnrichmentYWHAG2.05
112Loeys-dietz syndrome 5EnrichmentTGFB32.05
113Xq25 microduplication syndromeEnrichmentSTAG22.05
114LeiomyosarcomaEnrichmentCHEK22.05
115Autosomal recessive nonsyndromic deafness 32EnrichmentCDC14A2.05
116Congenital heart defects, multiple types, 8, with or without heterotaxyEnrichmentSMAD22.05
117Microcephaly 30, primary, autosomal recessiveEnrichmentBUB12.05
118Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predispositionEnrichmentMAD1L12.05
119Heritable thoracic aortic diseaseEnrichmentSMAD42.05
120Oocyte/zygote/embryo maturation arrest 21EnrichmentCHEK12.05
121Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndromeEnrichmentATR2.05
122Distal 17p13.3 microdeletion syndromeEnrichmentYWHAE2.05
123Proteus syndromeEnrichmentAKT12.05
124Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT22.05
125Van esch-o'driscoll syndromeEnrichmentPOLA12.05
126Immunodeficiency 80 with or without congenital cardiomyopathyEnrichmentMCM102.05
127Neurodevelopmental disorder with microcephaly, hypotonia, and absent languageEnrichmentPSMB12.05
128Pigmentary disorder, reticulate, with systemic manifestations, x-linkedEnrichmentPOLA12.05
129Meier-gorlin syndrome 4EnrichmentCDT12.05
130Stankiewicz-isidor syndromeEnrichmentPSMD122.05
131Houge-janssens syndrome 2EnrichmentPPP2R1A2.05
132Deafness, cataract, impaired intellectual development, and polyneuropathyEnrichmentPSMC32.05
133Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT32.05
134Premature ovarian failure 10EnrichmentMCM82.05
135Polydactyly-macrocephaly syndromeEnrichmentMAX2.05
136Cowden syndrome 6EnrichmentAKT12.05
137Megaloblastic anemia due to dihydrofolate reductase deficiencyEnrichmentDHFR2.05
138Meier-gorlin syndrome 6EnrichmentGMNN2.05
139Capillary hemangiomaEnrichmentAKT32.05
140Ppp2r1a-related neurodevelopmental disorderEnrichmentPPP2R1A2.05
141Akt2-related familial partial lipodystrophyEnrichmentAKT22.05
142Melanoma-astrocytoma syndromeEnrichmentCDKN2A2.03
143Burkitt lymphomaEnrichmentMYC2.03
144Adrenocortical carcinoma, hereditaryEnrichmentTP532.03
145Cervical cancerEnrichmentTP532.03
146Histiocytoma, angiomatoid fibrousEnrichmentCREB12.03
147Melanoma, cutaneous malignant 2EnrichmentCDKN2A2.03
148Chromosome 13q14 deletion syndromeEnrichmentRB12.03
149Lymphoma, hodgkin, classicEnrichmentTP532.03
150Multiple endocrine neoplasia, type ivEnrichmentCDKN1B2.03
151Cardiac valvular dysplasia, x-linkedEnrichmentATM2.03
152Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiencyEnrichmentPOLE2.03
153Melanoma-pancreatic cancer syndromeEnrichmentCDKN2A2.03
154Primordial dwarfism-immunodeficiency-lipodystrophy syndromeEnrichmentPRIM12.03
155Congenital fibrosarcomaEnrichmentTP532.03
156High grade gliomaEnrichmentATM2.03
157Facial dysmorphism, immunodeficiency, livedo, and short statureEnrichmentPOLE2.03
158Cervix carcinomaEnrichmentTP532.03
159Hodgkin's lymphomaEnrichmentTP532.03
160T-cell prolymphocytic leukemiaEnrichmentATM2.03
161Transient infantile hypertriglyceridemia and hepatosteatosisEnrichmentCREB3L32.03
162Familial retinoblastomaEnrichmentRB12.03
163Pleomorphic rhabdomyosarcomaEnrichmentTP532.03
164Primary autosomal recessive microcephalyEnrichmentCDK6, MCM72.00
165Intellectual developmental disorder, autosomal dominant 7EnrichmentDYRK1A1.99
166Thrombocytopenia 6EnrichmentSRC1.99
167Autoinflammatory disease, systemic, with vasculitisEnrichmentLYN1.99
168Semilobar holoprosencephalyEnrichmentSMC1A, STAG21.97
169Diffuse large b-cell lymphomaEnrichmentCHEK2, TP531.92
170Ehlers-danlos syndromeEnrichmentSMAD3, TGFB21.92
171Hereditary breast ovarian cancer syndromeEnrichmentATM, CHEK2, TP531.90
172RetinoblastomaEnrichmentRB11.85
173Ataxia-telangiectasiaEnrichmentATM1.85
174Polycythemia veraEnrichmentATM1.85
175Nasopharyngeal carcinomaEnrichmentTP531.85
176Woolly hair, autosomal recessive 3EnrichmentRB11.85
177Hypotrichosis 8EnrichmentRB11.85
178Koolen-de vries syndromeEnrichmentATM1.85
179Wieacker-wolff syndromeEnrichmentCCNH1.85
180High-grade b-cell lymphoma double-hit/triple-hitEnrichmentMYC1.85
181Atypical teratoid rhabdoid tumorEnrichmentTP531.85
182Anaplastic astrocytomaEnrichmentTP531.85
183MyxofibrosarcomaEnrichmentCREB3L11.85
184Melanoma of soft tissueEnrichmentCREB11.85
185Polymerase proofreading-related polyposisEnrichmentPOLE1.85
186Endometrial cancerEnrichmentATM, CHEK21.84
187Myhre syndromeEnrichmentSMAD41.75
188Camurati-engelmann disease 1EnrichmentTGFB11.75
189Cornelia de lange syndrome 2EnrichmentSMC1A1.75
190Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD41.75
191Loeys-dietz syndrome 3EnrichmentSMAD31.75
192Congenital heart defects, multiple types, 3EnrichmentCHEK21.75
193Oocyte/zygote/embryo maturation arrest 5EnrichmentWEE21.75
194Congenital heart defects and skeletal malformations syndromeEnrichmentABL11.75
195Menke-hennekam syndrome 2EnrichmentEP3001.75
196Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB11.75
197Camurati-engelmann diseaseEnrichmentTGFB11.75
198Birk-aharoni syndromeEnrichmentPSMC11.75
199Proteasome-associated autoinflammatory syndrome 3EnrichmentPSMB41.75
200Senior-loken syndrome 7EnrichmentAKT31.75
201Bardet-biedl syndrome 16EnrichmentAKT31.75
20217q24.2 microdeletion syndromeEnrichmentPSMD121.75
203Dyskeratosis congenita, digenicEnrichmentTYMS1.75
204Houge-janssens syndrome 3EnrichmentPPP2CA1.75
205Submucosal cleft palateEnrichmentUBB1.75
206Cleft hard palateEnrichmentUBB1.75
207Hypertriglyceridemia 1EnrichmentCREB3L31.73
208Thyroid cancer, nonmedullary, 1EnrichmentTP531.73
209AstigmatismEnrichmentMCM71.73
210Lynch syndrome 4EnrichmentRB11.73
211Lung sarcomatoid carcinomaEnrichmentTP531.73
212Embryonal rhabdomyosarcomaEnrichmentTP531.73
213Silver-russell syndrome due to a point mutationEnrichmentCDKN1C1.73
214Primary hyperparathyroidismEnrichmentCDKN1B1.73
215Oculomotor apraxiaEnrichmentATM1.73
216Thrombocythemia 3EnrichmentJAK21.69
217PolycythemiaEnrichmentJAK21.69
218Hypereosinophilic syndromeEnrichmentJAK21.69
219MicrophthalmiaEnrichmentDYRK1A, MCM71.68
220Capillary malformations, congenitalEnrichmentCCNH1.63
221Von hippel-lindau syndromeEnrichmentCCND11.63
222Rhabdomyosarcoma 2EnrichmentTP531.63
223LymphomaEnrichmentTP531.63
224GlioblastomaEnrichmentATM1.63
2252q23.1 microduplication syndromeEnrichmentORC41.63
226Acute megakaryocytic leukemiaEnrichmentTP531.63
227FarsightednessEnrichmentMCM71.63
228Juvenile polyposis syndromeEnrichmentSMAD41.58
229Miller-dieker lissencephaly syndromeEnrichmentYWHAE1.58
230Chromosome 17p13.3, centromeric, duplication syndromeEnrichmentYWHAE1.58
231Loeys-dietz syndrome 1EnrichmentSMAD21.58
232T-cell acute lymphoblastic leukemiaEnrichmentABL11.58
233Proteasome-associated autoinflammatory syndrome 1EnrichmentPSMB41.58
234Uvula, bifidEnrichmentUBB1.58
235Partington syndromeEnrichmentPOLA11.58
236Cleft soft palateEnrichmentUBB1.58
237Familial adenomatous polyposis 4EnrichmentDHFR1.58
238Proteosome-associated autoinflammatory syndromeEnrichmentPSMB41.58
239Thyroid hemiagenesisEnrichmentPSMD31.58
240Klippel-trenaunay-weber syndromeEnrichmentCCNH1.55
241Telangiectasia, hereditary hemorrhagic, type 1EnrichmentCCNH1.55
242Hemangioma, capillary infantileEnrichmentCCNH1.55
243Basal cell carcinoma 1EnrichmentCCNH1.55
244Clear cell renal cell carcinomaEnrichmentATM1.55
245Breast adenocarcinomaEnrichmentTP531.55
246Lung squamous cell carcinomaEnrichmentCDKN2A1.55
247Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK21.52
248Esophageal cancerEnrichmentTP531.49
249Squamous cell carcinoma, head and neckEnrichmentTP531.49
250Capillary malformation-arteriovenous malformation 1EnrichmentCCNH1.49
251Renal cell carcinoma, papillary, 1EnrichmentATM1.49
252Essential thrombocythemiaEnrichmentTP531.49
253Trichorhinophalangeal syndrome, type iiEnrichmentRAD211.46
254Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentABL11.46
255Aortic aneurysmEnrichmentSMAD31.46
256Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentYWHAZ1.46
257Pregnancy loss, recurrent 1EnrichmentCCNB31.46
258Hemoglobin c diseaseEnrichmentCHEK21.46
259Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentCHEK11.46
260Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT31.45
261Glioma susceptibility 1EnrichmentTP531.43
262Lymphoma, non-hodgkin, familialEnrichmentTP531.43
263Erythrocytosis, familial, 1EnrichmentJAK21.39
264Budd-chiari syndromeEnrichmentJAK21.39
265Arteriovenous malformationEnrichmentCCNH1.38
266Adult hepatocellular carcinomaEnrichmentTP531.38
267Primary hyperaldosteronismEnrichmentTP531.38
268Arrhythmogenic right ventricular dysplasia, familial, 1EnrichmentTGFB31.36
269Mosaic variegated aneuploidy syndrome 1EnrichmentMAD1L11.36
270Rubinstein-taybi syndrome 2EnrichmentEP3001.36
271Arrhythmogenic right ventricular dysplasia 1EnrichmentTGFB31.36
272Female infertility due to oocyte meiotic arrestEnrichmentWEE21.36
273Endometrial stromal sarcomaEnrichmentYWHAE1.36
274Generalized juvenile polyposis/juvenile polyposis coliEnrichmentSMAD41.36
275Ciliary dyskinesia, primary, 40EnrichmentE2F61.36
276HemimegalencephalyEnrichmentAKT31.36
277Myopathy, x-linked, with excessive autophagyEnrichmentCCNH1.34
278Familial colorectal cancerEnrichmentTP531.34
279Myeloproliferative neoplasmEnrichmentJAK21.30
280Immune deficiency diseaseEnrichmentATM1.29
281Leukemia, acute lymphoblasticEnrichmentCDKN2A1.29
282Myelodysplastic syndromeEnrichmentTP531.29
283Atrial septal defect 1EnrichmentTGFB21.28
284Rubinstein-taybi syndrome 1EnrichmentEP3001.28
285Wilms tumor 5EnrichmentCHEK21.28
286Chromosome 16p13.3 deletion syndrome, proximalEnrichmentEP3001.28
287Inflammatory bowel disease 25, autosomal recessiveEnrichmentTGFB11.28
288Il10-related early-onset inflammatory bowel diseaseEnrichmentTGFB11.28
289Kidney clear cell sarcomaEnrichmentYWHAE1.28
290Developmental dysplasia of the hip 1EnrichmentPSMC31.28
291Patent ductus arteriosusEnrichmentPSMC31.28
292Leukemia, chronic myeloidEnrichmentABL11.22
293Moyamoya angiopathyEnrichmentABL11.22
294MegacolonEnrichmentAKT31.22
295Seckel syndromeEnrichmentPRIM11.19
296Renal cell carcinoma, nonpapillaryEnrichmentATM1.16
297Osteogenesis imperfecta, type iiiEnrichmentCREB3L11.16
298Rett syndrome, congenital variantEnrichmentSMC1A1.16
299Isolated split hand-split foot malformationEnrichmentSEM11.16
300RhabdomyosarcomaEnrichmentTP531.14
301Charge syndromeEnrichmentEP3001.11
302Familial thoracic aortic aneurysm and dissectionEnrichmentSMAD31.11
303Polycystic liver diseaseEnrichmentCDC25A1.11
304Autosomal dominant polycystic liver diseaseEnrichmentCDC25A1.11
305Cowden syndromeEnrichmentAKT11.11
306Beckwith-wiedemann syndromeEnrichmentCDKN1C1.09
307Marfan syndromeEnrichmentTGFB21.07
308Undetermined early-onset epileptic encephalopathyEnrichmentFZR1, YWHAG1.06
309Leukemia, acute lymphoblastic 3EnrichmentJAK21.05
310Williams-beuren syndromeEnrichmentCDKN1C1.04
311Specific learning disabilityEnrichmentYWHAG1.03
312HepatoblastomaEnrichmentTP531.02
313Hepatocellular carcinomaEnrichmentTP531.00
314Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentTGFB30.99
315Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentTGFB30.99
316MeningiomaEnrichmentAKT10.99
317Diamond-blackfan anemia 1EnrichmentTP530.99
318Brittle bone disorderEnrichmentCREB3L10.99
319Nk-cell enteropathyEnrichmentCHEK20.96
320Aortic aneurysm, familial thoracic 1EnrichmentSMAD30.93
321Heart diseaseEnrichmentABL10.93
322Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentTGFB30.93
323PheochromocytomaEnrichmentMAX0.93
324Polydactyly, postaxial, type a1EnrichmentEP3000.90
325Wilms tumor 1EnrichmentCHEK20.90
326Lynch syndromeEnrichmentCHEK20.90
327Rare genetic intellectual disabilityEnrichmentEP3000.90
328OsteoporosisEnrichmentSRC0.87
329Complex neurodevelopmental disorderEnrichmentDYRK1A, PPP2CA, PSMD120.87
330Alobar holoprosencephalyEnrichmentSTAG20.85
331Male infertility with spermatogenesis disorderEnrichmentDYRK1A0.84
332Patent foramen ovaleEnrichmentPSMC30.83
333Dyskeratosis congenitaEnrichmentTYMS0.81
334Diamond-blackfan anemiaEnrichmentTP530.80
335AzoospermiaEnrichmentMCM80.78
336Hereditary paraganglioma-pheochromocytoma syndromesEnrichmentMAX0.77
337Leukemia, acute myeloidEnrichmentTP530.76
338Myocardial infarctionEnrichmentPSMA60.75
339Ear malformationEnrichmentCDC14A0.72
340Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentMCM20.66
341Lung cancerEnrichmentCHEK20.61
342Cystic fibrosisEnrichmentTGFB10.61
343Connective tissue diseaseEnrichmentSMAD30.61
344Fanconi anemia, complementation group aEnrichmentMAD2L20.57
345Type 2 diabetes mellitusEnrichmentAKT20.50
346Sensorineural hearing lossEnrichmentCDC14A0.46
347ThrombocytopeniaEnrichmentSMAD40.46
348Autosomal dominant non-syndromic intellectual disabilityEnrichmentYWHAZ0.44
349Primary ovarian insufficiencyEnrichmentCHEK20.39
350Rare genetic deafnessEnrichmentCDC14A0.30
351Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentCDC14A0.26
352Congenital nervous system abnormalityEnrichmentSMC1A0.21
353Nervous system diseaseEnrichmentSMC1A0.21
354Autism spectrum disorderEnrichmentSMC30.21

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