DNA Replication

Pathway network for the DNA Replication SuperPath

Sources:
  • Reactome

Pathways in the DNA Replication SuperPath

#NameSourceGenes
1DNA ReplicationReactome
2Transcriptional regulation by RUNX1Reactome
3DNA Replication Pre-InitiationReactome
4Assembly of the pre-replicative complexReactome
5RUNX1 regulates transcription of genes involved in differentiation of HSCsReactome
6Strand-asynchronous mitochondrial DNA replicationReactome

Gene overlap in member pathways for DNA Replication SuperPath

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

Disorders associated with DNA Replication SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Meier-gorlin syndrome 1EnrichmentCDC45, CDC6, CDT1, GMNN, MCM7, ORC1, ORC4, ORC616.00
2Coffin-siris syndrome 1EnrichmentARID1A, ARID1B, ARID2, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE110.19
3Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1EnrichmentPOLG, POLG2, TWNK8.24
4Complex neurodevelopmental disorderEnrichmentACTL6A, ACTL6B, AGO1, AGO2, CSNK2A1, H4C3, H4C5, H4C9, KMT2B, PSMD12, RNF2, SETD1A, TNRC6B6.95
5Autism spectrum disorderEnrichmentACTL6B, ARID1B, AUTS2, CSNK2A1, CSNK2B, KMT2A, KMT2C, PTPN11, SETD1A, SMARCB1, TCF12, TNRC6B6.69
6Tessadori-bicknell-van haaften neurodevelopmental syndrome 4EnrichmentH2BC12, H4C1, H4C96.23
7Sensory ataxic neuropathy, dysarthria, and ophthalmoparesisEnrichmentPOLG, TWNK5.31
8Mitochondrial neurogastrointestinal encephalomyopathyEnrichmentLIG3, POLG4.76
9Mitochondrial diseaseEnrichmentPOLG, TOP3A, TWNK4.53
10Myeloma, multipleEnrichmentCCND1, CREBBP, H3C1, KMT2C, KMT2D, TCF3, YAP14.49
11Tessadori-bicknell-van haaften neurodevelopmental syndrome 1EnrichmentH4C1, H4C34.15
12Tessadori-bicknell-van haaften neurodevelopmental syndrome 2EnrichmentH4C1, H4C114.15
13Acute basophilic leukemiaEnrichmentGATA1, MYB4.15
14Bryant-li-bhoj neurodevelopmental syndrome 2EnrichmentH3-3A, H3-3B4.15
15Rare genetic intellectual disabilityEnrichmentARID1B, CREBBP, EP300, KMT2A4.09
16ThrombocytopeniaEnrichmentGATA1, GP1BA, ITGA2B, PTPN11, RUNX1, SRC3.92
17MicrocephalyEnrichmentABL1, ARID1A, ARID1B, AUTS2, EP300, KMT2A, KMT2D, PSMC3, PTPN113.74
18Tessadori-bicknell-van haaften neurodevelopmental syndrome 3EnrichmentH4C1, H4C53.67
19Rhabdoid tumor predisposition syndromeEnrichmentSMARCA4, SMARCB13.58
20Witteveen-kolk syndromeEnrichmentSIN3A, SIN3B3.58
21B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)EnrichmentAUTS2, PAX53.58
22Polymerase proofreading-related polyposisEnrichmentPOLD1, POLE3.26
23Acute megakaryocytic leukemiaEnrichmentGATA1, KMT2A3.15
24Optic atrophy 13 with retinal and foveal abnormalitiesEnrichmentSSBP13.13
25Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3EnrichmentTWNK3.13
26Perrault syndrome 5EnrichmentTWNK3.13
27Combined oxidative phosphorylation deficiency 55EnrichmentPOLRMT3.13
28Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5EnrichmentTOP3A3.13
29Mitochondrial dna depletion syndrome, hepatocerebrorenal formEnrichmentTWNK3.13
30Childhood myocerebrohepatopathy spectrumEnrichmentPOLG3.13
31Spinocerebellar ataxia with epilepsyEnrichmentPOLG3.13
32Recessive mitochondrial ataxia syndromeEnrichmentPOLG3.13
33Nail disorder, nonsyndromic congenital, 9EnrichmentARID1B, CTSK3.11
34Precursor t-cell acute lymphoblastic leukemiaEnrichmentABL1, MYB, TAL13.03
35Leukemia, chronic myeloidEnrichmentABL1, RUNX12.84
36Fanconi anemia, complementation group iEnrichmentPOLG2.83
37Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4EnrichmentPOLG22.83
38Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2EnrichmentRNASEH12.83
39Mitochondrial dna depletion syndrome 16bEnrichmentPOLG22.83
40Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1EnrichmentPOLG2.83
41Mitochondrial dna depletion syndrome 11EnrichmentMGME12.83
42Depressive disorderEnrichmentTWNK2.83
43Polg-related disordersEnrichmentPOLG2.83
44Microcephaly, growth restriction, and increased sister chromatid exchange 2EnrichmentTOP3A2.83
45Mitochondrial dna depletion syndrome 16EnrichmentPOLG22.83
46Autosomal recessive progressive external ophthalmoplegiaEnrichmentPOLG2.83
47Mitochondrial dna depletion syndrome 20EnrichmentLIG32.83
48Nicolaides-baraitser syndromeEnrichmentARID1B, SMARCA22.81
49Intellectual developmental disorder, autosomal dominant 26EnrichmentAUTS2, KMT2D2.81
50BlepharophimosisEnrichmentARID1B, SMARCA22.81
51Smarca2-related nicolaides-baraitser syndromeEnrichmentARID1B, SMARCA22.81
52Corpus callosum, agenesis ofEnrichmentARID1B, AUTS2, CREBBP2.77
53Isolated corpus callosum agenesisEnrichmentARID1B, AUTS2, CREBBP2.77
54Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentARID1B, AUTS2, CREBBP2.77
55Glioma susceptibility 1EnrichmentH3-3A, H3C12.71
56Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentARID1A, ARID1B, AUTS22.69
57Mitochondrial dna depletion syndrome 7EnrichmentTWNK2.66
58Chronic progressive external ophthalmoplegiaEnrichmentTWNK2.66
59Idiopathic camptocormiaEnrichmentPOLG2.66
60Acute liver failureEnrichmentPOLG22.66
61Chondrosarcoma, extraskeletal myxoidEnrichmentNR4A3, TCF122.59
62LymphomaEnrichmentKMT2D, PTPN112.59
63Generalized epilepsyEnrichmentPOLG2.53
64Autosomal non-syndromic agammaglobulinemiaEnrichmentSPI1, TCF32.51
65Kabuki syndrome 1EnrichmentKMT2A, KMT2D2.42
66Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3002.42
67Wiedemann-steiner syndromeEnrichmentARID1B, KMT2A2.42
68Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3002.42
69Patent ductus arteriosusEnrichmentPSMC3, PTPN112.42
70Fetomaternal alloimmune thrombocytopenia 1EnrichmentGP1BA, ITGA2B2.42
71HypertrichosisEnrichmentARID1B, CREBBP2.42
72Machado-joseph diseaseEnrichmentPOLG2.35
73Mitochondrial dna depletion syndrome 1EnrichmentPOLG2.35
74Mitochondrial dna depletion syndromeEnrichmentPOLG2.35
75Leukemia, acute myeloidEnrichmentGATA2, KMT2A, RUNX12.33
76Mitochondrial dna depletion syndrome 4aEnrichmentPOLG2.29
77Third-degree atrioventricular blockEnrichmentTWNK2.29
78Mitochondrial dna depletion syndrome 4bEnrichmentPOLG2.23
79Perrault syndrome 2EnrichmentTWNK2.18
80Autosomal dominant cerebellar ataxiaEnrichmentPOLG2.18
81ScoliosisEnrichmentCREBBP, CTSK, PTPN112.17
82NeuroblastomaEnrichmentLMO1, SMARCA42.16
83Anemia, congenital, nonspherocytic hemolytic, 9EnrichmentGATA12.07
84Thrombocytopenia, x-linked, with or without dyserythropoietic anemiaEnrichmentGATA12.07
85Thrombocytopenia with beta-thalassemia, x-linkedEnrichmentGATA12.07
86Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual developmentEnrichmentYAP12.07
87Agammaglobulinemia 10, autosomal dominantEnrichmentSPI12.07
88Neurodevelopmental disorder with microcephaly, hypotonia, and absent languageEnrichmentPSMB12.07
89Agammaglobulinemia 8b, autosomal recessiveEnrichmentTCF32.07
90Anemia, x-linked, with or without neutropenia and/or platelet abnormalitiesEnrichmentGATA12.07
91Stankiewicz-isidor syndromeEnrichmentPSMD122.07
92Lymphedema, primary, with myelodysplasiaEnrichmentGATA22.07
93Uveal coloboma-cleft lip and palate-intellectual disabilityEnrichmentYAP12.07
94Deafness, cataract, impaired intellectual development, and polyneuropathyEnrichmentPSMC32.07
95Agammaglobulinemia 8a, autosomal dominantEnrichmentTCF32.07
96Autoimmune disease, multisystem, with facial dysmorphismEnrichmentITCH2.07
97Immunodeficiency 21EnrichmentGATA22.07
98Craniosynostosis 3EnrichmentTCF122.07
99Bryant-li-bhoj neurodevelopmental syndrome 1EnrichmentH3-3A2.07
100Deafness-lymphedema-leukemia syndromeEnrichmentGATA22.07
101Acute megakaryoblastic leukemia in children with down syndromeEnrichmentGATA12.07
102Acute myeloid leukemia with mll rearrangementEnrichmentKMT2A2.07
103Syndromic multisystem autoimmune disease due to itch deficiencyEnrichmentITCH2.07
104Thrombocytopenia with congenital dyserythropoietic anemiaEnrichmentGATA12.07
105AgammaglobulinemiaEnrichmentSPI12.07
106Hypogonadotropic hypogonadism 26 with or without anosmiaEnrichmentTCF122.07
107Charge syndromeEnrichmentEP300, KMT2D2.05
108Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentSETD1A, TNRC6B2.05
109Familial colorectal cancer type xEnrichmentPOLD1, POLE2.03
110Lactose intolerance, adult typeEnrichmentMCM62.01
111Meier-gorlin syndrome 3EnrichmentORC62.01
112Meier-gorlin syndrome 2EnrichmentORC42.01
113Meier-gorlin syndrome 4EnrichmentCDT12.01
114AnisometropiaEnrichmentMCM72.01
115Ferguson-bonni neurodevelopmental syndromeEnrichmentANAPC72.01
116Developmental and epileptic encephalopathy 109EnrichmentFZR12.01
117Immunodeficiency 54EnrichmentMCM42.01
118Deafness, autosomal dominant 70EnrichmentMCM22.01
119Meier-gorlin syndrome 8EnrichmentMCM52.01
120Rothmund-thomson syndrome, type 1EnrichmentANAPC12.01
121Premature ovarian failure 10EnrichmentMCM82.01
122Meier-gorlin syndrome 5EnrichmentCDC62.01
123Meier-gorlin syndrome 6EnrichmentGMNN2.01
124Autosomal dominant macrothrombocytopeniaEnrichmentGP1BA, ITGA2B1.96
125Cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and impaired intellectual developmentEnrichmentPOLE1.96
126Van esch-o'driscoll syndromeEnrichmentPOLA11.96
127Colorectal cancer 12EnrichmentPOLE1.96
128Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 6EnrichmentRPA11.96
129Immunodeficiency 80 with or without congenital cardiomyopathyEnrichmentMCM101.96
130Pigmentary disorder, reticulate, with systemic manifestations, x-linkedEnrichmentPOLA11.96
131Meier-gorlin syndrome 7EnrichmentCDC451.96
132Perrault syndrome 1EnrichmentTWNK1.93
133Meningioma, familialEnrichmentSMARCB1, SMARCE11.88
134Atrial heart septal defectEnrichmentACTL6A, SMARCA41.88
135Interatrial communicationEnrichmentACTL6A, SMARCA41.88
136Specific learning disabilityEnrichmentKMT2B, PTPN111.88
137Colorectal cancer 10EnrichmentPOLD11.87
138Seckel syndrome 8EnrichmentDNA21.87
139Immunodeficiency 120EnrichmentPOLD11.87
140Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6EnrichmentDNA21.87
141Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndromeEnrichmentPOLD11.87
142Ataxia-telangiectasia-like disorder 2EnrichmentPCNA1.87
143Immunodeficiency 96EnrichmentLIG11.87
144Rothmund-thomson syndrome, type 4EnrichmentDNA21.87
145Morimoto-ryu-malicdan neuromuscular syndromeEnrichmentRFC41.87
146Immunodeficiency 122EnrichmentPOLD31.87
147Seckel syndromeEnrichmentDNA2, PRIM11.83
148MeningiomaEnrichmentSMARCB1, SMARCE11.81
149Bernard-soulier syndrome, type a2, autosomal dominantEnrichmentGP1BA1.79
150MetachondromatosisEnrichmentPTPN111.79
151TorticollisEnrichmentACTL6A1.79
152Type 1 diabetes mellitus 10EnrichmentIL2RA1.79
153Immunodysregulation, polyendocrinopathy, and enteropathy, x-linkedEnrichmentFOXP31.79
154Nonarteritic anterior ischemic optic neuropathyEnrichmentGP1BA1.79
155PycnodysostosisEnrichmentCTSK1.79
15646,xy sex reversal 5EnrichmentCBX21.79
157Branchial cleft anomaliesEnrichmentKMT2D1.79
158Von willebrand disease, platelet-typeEnrichmentGP1BA1.79
159Celiac disease 3EnrichmentCTLA41.79
160Dermatitis, atopic, 4EnrichmentSOCS31.79
161Leopard syndrome 1EnrichmentPTPN111.79
162Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3EnrichmentCCND21.79
163Microcephaly 12, primary, autosomal recessiveEnrichmentCDK61.79
164Coffin-siris syndrome 5EnrichmentSMARCE11.79
165Caudal duplication anomalyEnrichmentAXIN11.79
166Microcephaly 11, primary, autosomal recessiveEnrichmentPHC11.79
167Intellectual developmental disorder with severe speech and ambulation defectsEnrichmentACTL6B1.79
168Global developmental delay with speech and behavioral abnormalitiesEnrichmentTNRC6B1.79
169Luo-schoch-yamamoto syndromeEnrichmentRNF21.79
170Coffin-siris syndrome 11EnrichmentSMARCD11.79
171Immunodeficiency 69EnrichmentIFNG1.79
172Neurodevelopmental disorder with speech impairment and dysmorphic faciesEnrichmentSETD1A1.79
173Hydrocephalus, congenital, 5EnrichmentSMARCC11.79
174Fetomaternal alloimmune thrombocytopenia 2EnrichmentITGA2B1.79
175Type 1 diabetes mellitus 12EnrichmentCTLA41.79
176Rhabdoid tumor predisposition syndrome 1EnrichmentSMARCB11.79
177Epilepsy, early-onset, 2, with or without developmental delayEnrichmentSETD1A1.79
178Intellectual developmental disorder with seizures and language delayEnrichmentSETD1B1.79
179NeurilemmomaEnrichmentSMARCB11.79
180Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndromeEnrichmentKMT2D1.79
181Coffin-siris syndrome 3EnrichmentSMARCB11.79
182Kleefstra syndrome 2EnrichmentKMT2C1.79
183Smarca4-deficient sarcoma of thoraxEnrichmentSMARCA41.79
184Arid1b-related disorderEnrichmentARID1B1.79
185Ovarian small cell carcinomaEnrichmentSMARCA41.79
186Epilepsy, familial adult myoclonic, 6EnrichmentTNRC6A1.79
187Thrombocytopenia 6EnrichmentSRC1.79
188Okur-chung neurodevelopmental syndromeEnrichmentCSNK2A11.79
189Intellectual developmental disorder, autosomal dominant 68EnrichmentKMT2B1.79
190Blepharophimosis-impaired intellectual development syndromeEnrichmentSMARCA21.79
191Menke-hennekam syndrome 1EnrichmentCREBBP1.79
192Generalized isolated dystoniaEnrichmentKMT2B1.79
193Craniometadiaphyseal osteosclerosis with hip dysplasiaEnrichmentAXIN11.79
194Kmt2b-related disordersEnrichmentKMT2B1.79
195Bernard-soulier syndrome type a2EnrichmentGP1BA1.79
196Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP1.79
197Craniodigital syndrome and intellectual disability syndromeEnrichmentCSNK2B1.79
198Chromosome 15q24 deletion syndromeEnrichmentSIN3A1.79
199Facial cleftEnrichmentSMARCE11.79
200Autosomal recessive severe congenital neutropeniaEnrichmentSMARCD21.79
201Menke-hennekam syndromeEnrichmentCREBBP1.79
202Multiple congenital anomalies/dysmorphic syndrome-intellectual disabilityEnrichmentAUTS21.79
203Malignant astrocytomaEnrichmentPTPN111.79
204Myeloproliferative syndrome, transientEnrichmentGATA11.77
205Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndromeEnrichmentGATA31.77
206Storage pool platelet diseaseEnrichmentRUNX11.77
207Porphyria, congenital erythropoieticEnrichmentGATA11.77
208Congenital heart defects and skeletal malformations syndromeEnrichmentABL11.77
209Birk-aharoni syndromeEnrichmentPSMC11.77
210Proteasome-associated autoinflammatory syndrome 3EnrichmentPSMB41.77
211Cleidocranial dysplasia 2EnrichmentCBFB1.77
212Neuroblastoma 7EnrichmentLMO11.77
213Angiocentric gliomaEnrichmentMYB1.77
214B-lymphoblastic leukemia/lymphoma with hyperdiploidyEnrichmentGATA31.77
215Hypoparathyroidism-deafness-renal disease syndromeEnrichmentGATA31.77
21617q24.2 microdeletion syndromeEnrichmentPSMD121.77
217B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)EnrichmentTCF31.77
218Autosomal dominant nonsyndromic deafnessEnrichmentGATA31.77
219Acute myeloid leukemia with t(9;11)(p22;q23)EnrichmentKMT2A1.77
220Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)EnrichmentKMT2A1.77
221B-lymphoblastic leukemia/lymphoma with tEnrichmentKMT2A1.77
222B-lymphoblastic leukemia/lymphoma with t(17;19)EnrichmentTCF31.77
223Tafro syndromeEnrichmentRUNX11.77
224Submucosal cleft palateEnrichmentUBB1.77
225Cleft hard palateEnrichmentUBB1.77
226Heart diseaseEnrichmentABL1, CREBBP1.67
227Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaliesEnrichmentPOLE1.66
228Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiencyEnrichmentPOLE1.66
229Primordial dwarfism-immunodeficiency-lipodystrophy syndromeEnrichmentPRIM11.66
230Facial dysmorphism, immunodeficiency, livedo, and short statureEnrichmentPOLE1.66
231Proteasome-associated autoinflammatory syndrome 1EnrichmentPSMB41.60
232Uvula, bifidEnrichmentUBB1.60
233Platelet disorder, familial, with associated myeloid malignancyEnrichmentRUNX11.60
234Cleft soft palateEnrichmentUBB1.60
235Wieacker-wolff syndromeEnrichmentCCNH1.60
236Proteosome-associated autoinflammatory syndromeEnrichmentPSMB41.60
237T-cell acute lymphoblastic leukemiaEnrichmentABL11.60
238End stage renal diseaseEnrichmentGATA31.60
239Adenoid cystic carcinomaEnrichmentMYB1.60
240Mixed phenotype acute leukemia with tEnrichmentKMT2A1.60
241Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with runx1EnrichmentRUNX11.60
242Thyroid hemiagenesisEnrichmentPSMD31.60
243Rothmund-thomson syndrome, type 2EnrichmentDNA21.57
244Cerebellar ataxia, neuropathy, and vestibular areflexia syndromeEnrichmentRFC11.57
245Immunodeficiency 55EnrichmentGINS11.57
246Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesEnrichmentPOLG1.56
247AutismEnrichmentACTL6B, CREBBP, KMT2B, KMT2D1.53
248Hereditary spastic paraplegiaEnrichmentPOLG1.52
249Hypertrophic cardiomyopathyEnrichmentPOLG1.50
250Hashimoto thyroiditisEnrichmentCTLA41.49
251Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactylyEnrichmentRUNX21.49
252Alopecia, androgenetic, 1EnrichmentSMARCD11.49
253Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephalyEnrichmentFOXP31.49
254TrichomegalyEnrichmentARID1B1.49
255Specific granule deficiency 1EnrichmentSMARCD21.49
256Thumb deformityEnrichmentCREBBP1.49
257Immunodeficiency 41 with lymphoproliferation and autoimmunityEnrichmentIL2RA1.49
258Rhabdoid tumor predisposition syndrome 2EnrichmentSMARCA41.49
259Premature ovarian failure 3EnrichmentAGO21.49
260Schwannomatosis 1EnrichmentSMARCB11.49
261Complement component c1s deficiencyEnrichmentKMT2D1.49
262Chromosome 6q24-q25 deletion syndromeEnrichmentARID1B1.49
263Maturity-onset diabetes of the young, type 11EnrichmentBLK1.49
264Choanal atresia, posteriorEnrichmentKMT2D1.49
265Severe combined immunodeficiency with sensitivity to ionizing radiationEnrichmentARID1B1.49
266Coffin-siris syndrome 6EnrichmentARID21.49
267Specific granule deficiency 2EnrichmentSMARCD21.49
268Coffin-siris syndrome 8EnrichmentSMARCC21.49
269Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizuresEnrichmentAGO11.49
270Werner syndromeEnrichmentPTPN111.49
271Poirier-bienvenu neurodevelopmental syndromeEnrichmentCSNK2B1.49
272Menke-hennekam syndrome 2EnrichmentEP3001.49
273Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP1.49
274Kleefstra syndromeEnrichmentKMT2C1.49
275Otosclerosis 12EnrichmentSMARCA41.49
276Coffin-siris syndrome 4EnrichmentSMARCA41.49
277Blepharophimosis - intellectual disability syndromeEnrichmentSMARCA21.49
278Dystonia 28, childhood-onsetEnrichmentKMT2B1.49
279Megacystis-microcolon-intestinal hypoperistalsis syndrome 4EnrichmentMYL91.49
280Developmental and epileptic encephalopathy 76EnrichmentACTL6B1.49
281Joint contractures, osteochondromas, and b-cell lymphomaEnrichmentNFATC21.49
282Kleefstra syndrome due to a point mutationEnrichmentKMT2C1.49
283Specific granule deficiencyEnrichmentSMARCD21.49
284Partington syndromeEnrichmentPOLA11.49
285Down syndromeEnrichmentGATA11.48
286Malignant epithelioid hemangioendotheliomaEnrichmentYAP11.48
287Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentABL11.48
288Blood platelet diseaseEnrichmentRUNX11.48
289Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentCBFB1.48
290Non-syndromic bicoronal craniosynostosisEnrichmentTCF121.48
291Patent foramen ovaleEnrichmentPSMC3, PTPN111.47
292Body mass index quantitative trait locus 11EnrichmentPOLG1.44
293AstigmatismEnrichmentMCM71.42
294EnophthalmosEnrichmentMCM71.42
295Childhood apraxia of speechEnrichmentRFC31.40
296Capillary malformations, congenitalEnrichmentCCNH1.38
297Aggressive systemic mastocytosisEnrichmentRUNX11.38
298Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentRUNX11.38
299Primary ovarian insufficiencyEnrichmentPOLG1.37
300Deafness, autosomal recessive 63EnrichmentANAPC151.32
3012q23.1 microduplication syndromeEnrichmentORC41.32
302FarsightednessEnrichmentMCM71.32
303Cleidocranial dysplasia 1EnrichmentRUNX21.32
304Dystonia 12EnrichmentKMT2B1.32
305Prognathism, mandibularEnrichmentCSNK2B1.32
306Bleeding disorder, platelet-type, 16EnrichmentITGA2B1.32
307Mycosis fungoidesEnrichmentCTLA41.32
308Tuberous sclerosis 1EnrichmentIFNG1.32
309Stuve-wiedemann syndrome 1EnrichmentLIFR1.32
310Hepatitis c virusEnrichmentIFNG1.32
311Estrogen resistanceEnrichmentESR11.32
312Tuberous sclerosis 2EnrichmentIFNG1.32
313Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferationEnrichmentCTLA41.32
314Intellectual developmental disorder, autosomal dominant 57EnrichmentAUTS21.32
315Tethered spinal cord syndromeEnrichmentCREBBP1.32
316Coffin-siris syndrome 2EnrichmentARID1A1.32
317Umbilical herniaEnrichmentACTL6A1.32
318Asparagine synthetase deficiencyEnrichmentCTLA41.32
319Atypical teratoid rhabdoid tumorEnrichmentSMARCB11.32
320Cleidocranial dysplasiaEnrichmentRUNX21.32
321Intraocular pressure quantitative trait locusEnrichmentCREBBP1.32
322Migraine without auraEnrichmentESR11.32
323Periventricular leukomalaciaEnrichmentARID1A1.32
324Desmoplastic/nodular medulloblastomaEnrichmentARID21.32
325SchwannomatosisEnrichmentSMARCB11.32
326Lessel-kreienkamp syndromeEnrichmentAGO21.32
327Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndromeEnrichmentCTLA41.32
328Adult-onset myasthenia gravisEnrichmentCTLA41.32
329Tricuspid valve insufficiencyEnrichmentPTPN111.32
330Stüve-wiedemann syndromeEnrichmentLIFR1.32
331Saczary syndromeEnrichmentCTLA41.32
332Cone-rod dystrophy 2EnrichmentSSBP11.31
333Myocardial infarctionEnrichmentESR1, PSMA61.31
334Leigh syndrome, nuclearEnrichmentPOLG1.30
335Developmental dysplasia of the hip 1EnrichmentPSMC31.30
336Klippel-trenaunay-weber syndromeEnrichmentCCNH1.30
337Telangiectasia, hereditary hemorrhagic, type 1EnrichmentCCNH1.30
338Hemangioma, capillary infantileEnrichmentCCNH1.30
339Basal cell carcinoma 1EnrichmentCCNH1.30
340PancytopeniaEnrichmentRUNX11.30
341Colorectal cancerEnrichmentARID1A, CCND1, EP300, SRC1.27
342Capillary malformation-arteriovenous malformation 1EnrichmentCCNH1.24
343Hereditary hemorrhagic telangiectasiaEnrichmentCCNH1.24
344Moyamoya angiopathyEnrichmentABL11.24
345B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentABL11.24
346Microtia-anotiaEnrichmentKMT2D1.20
347Lipodystrophy, congenital generalized, type 2EnrichmentACTL6B1.20
348Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentCCND21.20
349Immunodeficiency, common variable, 1EnrichmentCTLA41.20
350Mantle cell lymphomaEnrichmentCCND11.20
351Arthrogryposis multiplex congenita 3, myogenic typeEnrichmentESR11.20
352SyndactylyEnrichmentCSNK2B1.20
353Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentPTPN111.20
354Noonan syndrome with multiple lentiginesEnrichmentPTPN111.20
355Full schwannomatosisEnrichmentSMARCB11.20
356Clear cell papillary renal cell carcinomaEnrichmentPBRM11.20
357Inherited cancer-predisposing syndromeEnrichmentPTPN11, RUNX1, SMARCA4, SMARCB1, SMARCE11.19
358Isolated split hand-split foot malformationEnrichmentSEM11.18
359Hydrops fetalis, nonimmuneEnrichmentARID1A, PTPN111.18
360StrabismusEnrichmentKMT2D, PTPN111.15
361Cornelia de lange syndrome 1EnrichmentKMT2A1.13
362Arteriovenous malformationEnrichmentCCNH1.13
363Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentRUNX11.13
364Cornelia de lange syndromeEnrichmentKMT2A1.13
365Congenital nervous system abnormalityEnrichmentPOLG1.12
366Nervous system diseaseEnrichmentPOLG1.12
367Bernard-soulier syndromeEnrichmentGP1BA1.10
368Von hippel-lindau syndromeEnrichmentCCND11.10
369Rubinstein-taybi syndrome 2EnrichmentEP3001.10
370AmblyopiaEnrichmentKMT2D1.10
371Idiopathic aplastic anemiaEnrichmentIFNG1.10
372Myopathy, x-linked, with excessive autophagyEnrichmentCCNH1.09
373PolymicrogyriaEnrichmentPSMC31.09
374Myelodysplastic syndromeEnrichmentGATA21.05
375Non-immune hydrops fetalisEnrichmentARID1A, PTPN111.04
376Type 1 diabetes mellitusEnrichmentFOXP31.03
377Kleefstra syndrome 1EnrichmentKMT2C1.03
378Granulomatosis with polyangiitisEnrichmentCTLA41.03
379Inguinal herniaEnrichmentACTL6A1.03
380Clear cell renal cell carcinomaEnrichmentPBRM11.03
381Primary autosomal recessive microcephalyEnrichmentCDK6, PHC11.02
382Lip and oral cavity carcinomaEnrichmentABL11.01
383Isolated growth hormone deficiency, type iaEnrichmentDNA20.98
384Microphthalmia/coloboma 12EnrichmentYAP10.98
385Protein-deficiency anemiaEnrichmentGATA10.98
386CakutEnrichmentGATA3, LIFR0.98
387MyelofibrosisEnrichmentSRC0.96
388Glanzmann thrombasthenia 1EnrichmentITGA2B0.96
389Noonan syndrome 3EnrichmentPTPN110.96
390Oligoarticular juvenile idiopathic arthritisEnrichmentIL2RA0.96
391Congenital hydrocephalusEnrichmentSMARCC10.96
392Rheumatoid factor-negative juvenile idiopathic arthritisEnrichmentIL2RA0.96
393Coloboma of maculaEnrichmentYAP10.92
394Gastroesophageal refluxEnrichmentACTL6A0.91
395Systemic lupus erythematosusEnrichmentBLK, CTLA40.88
396Leukemia, acute lymphoblastic 3EnrichmentPAX50.86
397Adult hepatocellular carcinomaEnrichmentAXIN10.86
398Ventricular septal defectEnrichmentSMARCA40.86
399Hydrops fetalisEnrichmentFOXP30.86
400Combined immunodeficiencyEnrichmentPOLD10.86
401Combined t cell and b cell immunodeficiencyEnrichmentPOLD10.86
402Combined t and b cell immunodeficiencyEnrichmentPOLD10.86
403Leukemia, chronic lymphocyticEnrichmentCCND10.82
404Aplastic anemiaEnrichmentIFNG0.82
405Primary bone dysplasiaEnrichmentCTSK0.82
406CraniosynostosisEnrichmentTCF120.81
407Migraine with or without aura 1EnrichmentESR10.78
408Pectus excavatumEnrichmentPTPN110.78
409Leukemia, acute lymphoblasticEnrichmentPAX50.78
41046,xy complete gonadal dysgenesisEnrichmentCBX20.78
411OsteochondrodysplasiaEnrichmentCTSK0.78
412AzoospermiaEnrichmentMCM80.75
413Diamond-blackfan anemia 1EnrichmentGATA10.75
414EpicanthusEnrichmentPTPN110.75
415Septooptic dysplasiaEnrichmentARID1A0.75
416Juvenile myelomonocytic leukemiaEnrichmentPTPN110.75
417Congenital long qt syndromeEnrichmentPTPN110.75
418Hypercholesterolemia, familial, 1EnrichmentSMARCA40.72
419Acute promyelocytic leukemiaEnrichmentPML0.72
420Nk-cell enteropathyEnrichmentSMARCB10.72
421MicrophthalmiaEnrichmentMCM70.71
422Autosomal dominant non-syndromic intellectual disabilityEnrichmentCSNK2B, SETD1B0.71
423OsteoporosisEnrichmentSRC0.69
424Pituitary stalk interruption syndromeEnrichmentSMARCA20.69
425Renal cell carcinoma, nonpapillaryEnrichmentPBRM10.66
426Polydactyly, postaxial, type a1EnrichmentEP3000.66
427Familial hypercholesterolemiaEnrichmentSMARCA40.66
428Male infertility with spermatogenesis disorderEnrichmentKMT2D0.66
429Noonan syndrome and noonan-related syndromeEnrichmentPTPN110.66
430Parkinson's diseaseEnrichmentRFC10.64
431Isolated congenital microcephalyEnrichmentPHC10.64
432Williams-beuren syndromeEnrichmentRFC20.62
433Cleft palate, isolatedEnrichmentSMARCA40.61
434Dandy-walker syndromeEnrichmentKMT2D0.61
435Human immunodeficiency virus type 1EnrichmentIFNG0.59
436Diamond-blackfan anemiaEnrichmentGATA10.58
437Diffuse large b-cell lymphomaEnrichmentCREBBP0.57
438Parkinson disease, late-onsetEnrichmentRFC10.55
439Maturity-onset diabetes of the youngEnrichmentBLK0.55
440Pancreatic cancerEnrichmentPOLD10.54
441Cardiomyopathy, dilated, 1aEnrichmentNFATC20.53
442Centronuclear myopathyEnrichmentFOXP30.53
443Hepatocellular carcinomaEnrichmentAXIN10.52
444Noonan syndrome 1EnrichmentPTPN110.50
445MalariaEnrichmentCR10.50
446Breast cancerEnrichmentESR1, IL20.46
447RasopathyEnrichmentPTPN110.46
448Bladder cancerEnrichmentARID1A0.42
449Long qt syndrome 1EnrichmentPTPN110.41
450Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentMCM20.40
451Lung cancerEnrichmentKMT2D0.39
452Undetermined early-onset epileptic encephalopathyEnrichmentFZR10.37
453DystoniaEnrichmentKMT2B0.36
454Cerebral palsyEnrichmentSMARCA40.32
455EpilepsyEnrichmentSETD1B0.32
456Nephrotic syndromeEnrichmentRUNX20.29
457Hereditary breast carcinomaEnrichmentESR10.29
458Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentPTPN110.22
459SchizophreniaEnrichmentSETD1A0.21
460Ovarian cancerEnrichmentSMARCB10.09

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