Chromatin Regulation / Acetylation

No Pathway Network information available for Chromatin Regulation / Acetylation

Pathways in the Chromatin Regulation / Acetylation SuperPath

#NameSourceGenes
1Chromatin Regulation / AcetylationCell Signaling Technology
(see all 255) (see less)

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

Disorders associated with Chromatin Regulation / Acetylation SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Rare genetic intellectual disabilityEnrichmentCHD8, CREBBP, DNMT3A, EP300, KDM3B, KMT2A6.74
2Cornelia de lange syndrome 1EnrichmentBRD4, KMT2A, RAD21, SMC1A, SMC36.57
3Cornelia de lange syndromeEnrichmentBRD4, KMT2A, RAD21, SMC1A, SMC36.57
4Autism spectrum disorderEnrichmentCHD2, CHD8, DNMT3A, KDM3B, KDM5B, KDM6A, KMT2A, MECP2, SETD1A, SETD2, SMARCB1, SMC36.03
5Wiedemann-steiner syndromeEnrichmentCHD7, KMT2A, SMC1A, SMC35.75
6Coffin-siris syndrome 1EnrichmentARID1A, ARID2, SMARCA4, SMARCB1, SMARCC25.24
7Complex neurodevelopmental disorderEnrichmentCHD2, CHD5, CTR9, HNRNPC, JARID2, KAT8, KDM4B, KMT2B, MSL2, RNF2, SETD1A4.66
8Myeloma, multipleEnrichmentCREBBP, DNMT3A, H1-4, H3C1, HDAC4, KDM5C, TET24.09
9Immunodeficiency-centromeric instability-facial anomalies syndromeEnrichmentDNMT3B, HELLS, UHRF13.90
10Corpus callosum, agenesis ofEnrichmentCREBBP, ERCC2, MED12, SETD23.85
11Isolated corpus callosum agenesisEnrichmentCREBBP, ERCC2, MED12, SETD23.85
12Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP, ERCC2, MED12, SETD23.85
13Ewing sarcomaEnrichmentERG, EWSR1, SMARCA53.46
14Sifrim-hitz-weiss syndromeEnrichmentCHD2, CHD43.45
15Nut midline carcinomaEnrichmentBRD4, NUTM13.45
16Rhabdoid tumor predisposition syndromeEnrichmentSMARCA4, SMARCB13.45
1714q11.2 microduplication syndromeEnrichmentCHD8, SUPT16H3.45
18Charge syndromeEnrichmentCHD7, EP300, KDM6A3.29
19MicrocephalyEnrichmentARID1A, ATRX, EP300, KDM2B, KMT2A, MECP2, MED12, SMARCA5, SMC1A3.28
20Methylmalonic aciduria and homocystinuria, cblx typeEnrichmentCENPT, HCFC12.98
21Weaver syndromeEnrichmentEZH2, SUZ122.98
22Atypical teratoid rhabdoid tumorEnrichmentATRX, SMARCB12.98
23Desmoplastic/nodular medulloblastomaEnrichmentARID2, CTCF2.98
24AutismEnrichmentCHD8, CREBBP, JARID2, KMT2B, MECP2, MSL22.64
25Chondrosarcoma, extraskeletal myxoidEnrichmentEWSR1, TAF152.47
26Xeroderma pigmentosum-cockayne syndrome complexEnrichmentERCC2, ERCC32.47
27Melanoma, cutaneous malignant 1EnrichmentACD, MGMT, TERF2IP2.43
28Non-syndromic x-linked intellectual disabilityEnrichmentHCFC1, MECP2, MED12, SMARCA12.35
29Kabuki syndrome 1EnrichmentKDM6A, KMT2A2.30
30Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3002.30
31Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3002.30
32Hoyeraal-hreidarsson syndromeEnrichmentACD, DKC12.30
33Diffuse large b-cell lymphomaEnrichmentCREBBP, DNMT3A, TBL1XR12.29
34Glioma susceptibility 1EnrichmentH3-3A, H3C12.04
35Rett syndrome, congenital variantEnrichmentMECP2, SMC1A2.04
36Neurofibromatosis, type iEnrichmentERG, EWSR11.93
37Primary hyperaldosteronismEnrichmentATRX, NR3C11.93
38TrichothiodystrophyEnrichmentERCC2, ERCC31.93
39Bladder cancerEnrichmentARID1A, ERCC2, KDM6A1.78
40Xeroderma pigmentosum, variant typeEnrichmentERCC2, ERCC31.76
41Atrial heart septal defectEnrichmentCHD7, SMARCA41.76
42Interatrial communicationEnrichmentCHD7, SMARCA41.76
43Specific learning disabilityEnrichmentDNMT3A, KMT2B1.76
44Basan syndromeEnrichmentSMARCAD11.73
45AdermatoglyphiaEnrichmentSMARCAD11.73
46Huriez syndromeEnrichmentSMARCAD11.73
47Intellectual developmental disorder, x-linked, syndromic, gustavson typeEnrichmentRBMX1.73
48Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmiaEnrichmentHDAC61.73
49Developmental and epileptic encephalopathy 85 with or without midline brain defectsEnrichmentSMC1A1.73
50Prostate cancer, hereditary, x-linked 3EnrichmentAR1.73
51Neuropathy, hereditary sensory and autonomic, type iiiEnrichmentELP11.73
52Intellectual developmental disorder, x-linked, syndromic 33EnrichmentTAF11.73
53Androgen insensitivity, partialEnrichmentAR1.73
54Spermatogenic failure, x-linked, 9EnrichmentRBBP71.73
55Kabuki syndrome 2EnrichmentKDM6A1.73
56Holoprosencephaly 13, x-linkedEnrichmentSTAG21.73
57Cornelia de lange syndrome 3 with or without midline brain defectsEnrichmentSMC31.73
58Dystonia 3, torsion, x-linkedEnrichmentTAF11.73
59Facial hypertrichosisEnrichmentMECP21.73
60Brachyphalangy, polydactyly, and tibial aplasia/hypoplasiaEnrichmentHMGB11.73
61Xeroderma pigmentosum, complementation group bEnrichmentERCC31.73
62Acanthosis nigricansEnrichmentPRMT71.73
63Glucocorticoid resistance, generalizedEnrichmentNR3C11.73
64Immunodeficiency-centromeric instability-facial anomalies syndrome 4EnrichmentHELLS1.73
65Microcephaly 11, primary, autosomal recessiveEnrichmentPHC11.73
66Tremor, hereditary essential, 4EnrichmentFUS1.73
67Cornelia de lange syndrome 4 with or without midline brain defectsEnrichmentRAD211.73
68Luo-schoch-yamamoto syndromeEnrichmentRNF21.73
69Li-ghorbani-weisz-hubshman syndromeEnrichmentKAT81.73
70Spermatogenic failure 21EnrichmentBRDT1.73
71Neurodevelopmental disorder with speech impairment and dysmorphic faciesEnrichmentSETD1A1.73
72Intellectual developmental disorder, x-linked, syndromic, lubs typeEnrichmentMECP21.73
73Developmental delay with dysmorphic facies and dental anomaliesEnrichmentSATB11.73
74Hydrocephalus, congenital, 5EnrichmentSMARCC11.73
75Brunet-wagner neurodevelopmental syndromeEnrichmentRBL21.73
76Cornelia de lange syndrome 6EnrichmentBRD41.73
77Leukodystrophy, hypomyelinating, 27EnrichmentPOLR1A1.73
78Intellectual disability-hypotonic facies syndrome, x-linked, 1EnrichmentATRX1.73
79Intellectual developmental disorder, autosomal dominant 70EnrichmentSETD21.73
80Chromosome 2q37 deletion syndromeEnrichmentHDAC41.73
81Autism x-linked 3EnrichmentMECP21.73
82Silver-russell syndrome 5EnrichmentHMGA21.73
83Hoxha-aliu syndromeEnrichmentERI11.73
84Mullegama-klein-martinez syndromeEnrichmentSTAG21.73
85Adrenal cortical adenomaEnrichmentMEN11.73
86Xeroderma pigmentosum, complementation group dEnrichmentERCC21.73
87Heyn-sproul-jackson syndromeEnrichmentDNMT3A1.73
88Imagawa-matsumoto syndromeEnrichmentSUZ121.73
89Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1EnrichmentDKC11.73
90Nil-deshwar neurodevelopmental syndromeEnrichmentDOT1L1.73
91Developmental delay with variable intellectual disability and dysmorphic faciesEnrichmentJARID21.73
92Prostate cancer, hereditary, 9EnrichmentHOXB131.73
93Rahman syndromeEnrichmentH1-41.73
94Trichothiodystrophy 2, photosensitiveEnrichmentERCC31.73
95Xeroderma pigmentosum group bEnrichmentERCC31.73
96Intellectual developmental disorder, autosomal recessive 65EnrichmentKDM5B1.73
97Rhabdoid tumor predisposition syndrome 1EnrichmentSMARCB11.73
98Scoliosis, isolated 3EnrichmentCHD71.73
99Cerebrooculofacioskeletal syndrome 2EnrichmentERCC21.73
100Mungan syndromeEnrichmentRAD211.73
101Stature quantitative trait locus 9EnrichmentHMGA21.73
102Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2EnrichmentHNRNPA2B11.73
103Cleft palate, psychomotor retardation, and distinctive facial featuresEnrichmentKDM1A1.73
104Epilepsy, early-onset, 2, with or without developmental delayEnrichmentSETD1A1.73
105Intellectual developmental disorder with seizures and language delayEnrichmentSETD1B1.73
106Syndromic x-linked intellectual disability lubs typeEnrichmentMECP21.73
107NeurilemmomaEnrichmentSMARCB11.73
108Karayol-borroto-haghshenas neurodevelopmental syndromeEnrichmentMSL21.73
109Coffin-siris syndrome 3EnrichmentSMARCB11.73
110Smarca4-deficient sarcoma of thoraxEnrichmentSMARCA41.73
111Ovarian small cell carcinomaEnrichmentSMARCA41.73
112Deafness, autosomal dominant 75EnrichmentTRRAP1.73
113Ctcf-related disorderEnrichmentCTCF1.73
114Short stature, brachydactyly, impaired intellectual development, and seizuresEnrichmentPRMT71.73
115Xq25 microduplication syndromeEnrichmentSTAG21.73
116Bryant-li-bhoj neurodevelopmental syndrome 1EnrichmentH3-3A1.73
117Intellectual developmental disorder, autosomal dominant 68EnrichmentKMT2B1.73
118Microcephaly 22, primary, autosomal recessiveEnrichmentNCAPD31.73
119Rare genetic epilepsyEnrichmentKDM3B1.73
120Blepharophimosis-impaired intellectual development syndromeEnrichmentSMARCA21.73
121Short stature and microcephaly with genital anomaliesEnrichmentCENPT1.73
122Menke-hennekam syndrome 1EnrichmentCREBBP1.73
123Neurodevelopmental disorder with central hypotonia and dysmorphic faciesEnrichmentHDAC41.73
124Developmental delay with or without dysmorphic facies and autismEnrichmentTRRAP1.73
125Generalized isolated dystoniaEnrichmentKMT2B1.73
126Parenti-mignot neurodevelopmental syndromeEnrichmentCHD51.73
127Neurodevelopmental disorder with dysmorphic facies and thin corpus callosumEnrichmentSUPT16H1.73
128Den hoed-de boer-voisin syndromeEnrichmentSATB11.73
129Intellectual developmental disorder, autosomal dominant 74EnrichmentHNRNPC1.73
130Luscan-lumish syndromeEnrichmentSETD21.73
131Rabin-pappas syndromeEnrichmentSETD21.73
132Kmt2b-related disordersEnrichmentKMT2B1.73
133Lymphatic malformation 14EnrichmentERG1.73
134Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeEnrichmentKDM1A1.73
135Acute myeloid leukemia with mll rearrangementEnrichmentKMT2A1.73
136Oculopharyngeal muscular dystrophy 2EnrichmentHNRNPA2B11.73
137Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP1.73
138Keratoderma with scleroatrophy of the extremitiesEnrichmentSMARCAD11.73
139Chromosome 15q24 deletion syndromeEnrichmentSIN3A1.73
140Developmental dysplasia of the hip 4EnrichmentTRIM331.73
141Spondyloepimetaphyseal dysplasia, guo-campeau typeEnrichmentERI11.73
142X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeEnrichmentTAF11.73
143Gastric neuroendocrine neoplasmEnrichmentATRX1.73
144Acth-independent macronodular adrenal hyperplasia 3EnrichmentKDM1A1.73
145Wilms tumor 7EnrichmentTRIM281.73
146Adrenal adenomaEnrichmentMEN11.73
147Complete androgen insensitivity syndromeEnrichmentAR1.73
148Xeroderma pigmentosum group dEnrichmentERCC21.73
149Menke-hennekam syndromeEnrichmentCREBBP1.73
150Intellectual disability-acpilepsy-dental anomalies-facial dysmorphism syndromeEnrichmentSATB11.73
151Lethal brain and heart developmental defectsEnrichmentSIRT61.73
152OdontoleukodystrophyEnrichmentPOLR3A1.73
153Myelodysplastic neoplasm with increased blasts type 2EnrichmentTET21.73
154Myelodysplastic neoplasm with increased blasts type 1EnrichmentTET21.73
155Dislocation of the hip-dysmorphism syndromeEnrichmentTRIM331.73
156Chd7 disorderEnrichmentCHD71.73
157Myelodysplastic neoplasm with low blastsEnrichmentTET21.73
158Stereotypic movement disorderEnrichmentJARID2, MECP21.62
159Heart diseaseEnrichmentCHD7, CREBBP1.56
160Pituitary stalk interruption syndromeEnrichmentDNMT1, SMARCA21.56
161Wilms tumor 1EnrichmentCTR9, TRIM281.50
162Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentARID1A, DKC11.45
163Hydrocephalus, congenital, 1EnrichmentMED12, SETD21.45
164GliosarcomaEnrichmentDNMT3A, MGMT1.45
165Immunodeficiency-centromeric instability-facial anomalies syndrome 1EnrichmentDNMT3B1.43
166Galactosemia iiEnrichmentNR3C11.43
167Thumb deformityEnrichmentCREBBP1.43
168Ogden syndromeEnrichmentNAA101.43
169Microphthalmia, syndromic 1EnrichmentNAA101.43
170Spinal and bulbar muscular atrophy, x-linked 1EnrichmentAR1.43
171Encephalopathy, neonatal severe, due to mecp2 mutationsEnrichmentMECP21.43
172Hardikar syndromeEnrichmentMED121.43
173Cornelia de lange syndrome 2EnrichmentSMC1A1.43
174Myopathy, x-linked, with postural muscle atrophyEnrichmentEMD1.43
175Hyperaldosteronism, familial, type iiEnrichmentSATB11.43
176Opitz-kaveggia syndromeEnrichmentMED121.43
177Intellectual developmental disorder, x-linked, syndromic, shashi typeEnrichmentRBMX1.43
178Alpha-thalassemia myelodysplasia syndromeEnrichmentATRX1.43
179Leukodystrophy, hypomyelinating, 4EnrichmentPOLR3A1.43
180Histiocytoma, angiomatoid fibrousEnrichmentEWSR11.43
181Amyotrophic lateral sclerosis 6 with or without frontotemporal dementiaEnrichmentFUS1.43
182Spinocerebellar ataxia 17EnrichmentTBP1.43
183Rhabdoid tumor predisposition syndrome 2EnrichmentSMARCA41.43
184Hyperparathyroidism 1EnrichmentMEN11.43
185Schwannomatosis 1EnrichmentSMARCB11.43
186Salivary gland adenoma, pleomorphicEnrichmentHMGA21.43
187Ovarian dysgenesis 3EnrichmentMLX1.43
188Choanal atresia, posteriorEnrichmentCHD71.43
189Immunodeficiency 75 with lymphoproliferationEnrichmentTET21.43
190Tessadori-bicknell-van haaften neurodevelopmental syndrome 1EnrichmentH4C11.43
191Tessadori-bicknell-van haaften neurodevelopmental syndrome 2EnrichmentH4C11.43
192Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalitiesEnrichmentKAT51.43
193Intellectual developmental disorder, autosomal dominant 65EnrichmentKDM4B1.43
194Coffin-siris syndrome 6EnrichmentARID21.43
195Epilepsy, progressive myoclonic, 12EnrichmentPRMT71.43
196Alpha-thalassemia/impaired intellectual development syndrome, x-linkedEnrichmentATRX1.43
197Immunodeficiency, common variable, 15EnrichmentRUVBL11.43
198Snijders blok-campeau syndromeEnrichmentCHD31.43
199Coffin-siris syndrome 8EnrichmentSMARCC21.43
200Hypotonia, ataxia, developmental delay, and tooth enamel defect syndromeEnrichmentCTBP11.43
20146,xy sex reversal 1EnrichmentAR1.43
202Androgen insensitivity syndromeEnrichmentAR1.43
203Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA1.43
204Ohdo syndrome, x-linkedEnrichmentMED121.43
205Menke-hennekam syndrome 2EnrichmentEP3001.43
206Intellectual developmental disorder, x-linked, syndromic 13EnrichmentMECP21.43
207Hypospadias 1, x-linkedEnrichmentAR1.43
208Diets-jongmans syndromeEnrichmentKDM3B1.43
209Rela fusion-positive ependymomaEnrichmentRELA1.43
210Intellectual developmental disorder, autosomal dominant 21EnrichmentCTCF1.43
211Facioscapulohumeral muscular dystrophy 4, digenicEnrichmentDNMT3B1.43
212Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP1.43
213Cerebellar ataxia, deafness, and narcolepsy, autosomal dominantEnrichmentDNMT11.43
214Syndromic x-linked intellectual disability shashi typeEnrichmentRBMX1.43
215X-linked intellectual disability-psychosis-macroorchidism syndromeEnrichmentMECP21.43
216Medullary thyroid carcinomaEnrichmentMEN11.43
217Witteveen-kolk syndromeEnrichmentSIN3A1.43
218Otosclerosis 12EnrichmentSMARCA41.43
219El hayek-chahrour neurodevelopmental syndromeEnrichmentKDM5A1.43
220Coffin-siris syndrome 4EnrichmentSMARCA41.43
221Tatton-brown-rahman syndromeEnrichmentDNMT3A1.43
222Acrofacial dysostosis, cincinnati typeEnrichmentPOLR1A1.43
223InsulinomaEnrichmentMEN11.43
224Methylmalonic aciduria and homocystinuria, cbll typeEnrichmentCENPT1.43
225Stolerman neurodevelopmental syndromeEnrichmentKDM6B1.43
226Blepharophimosis - intellectual disability syndromeEnrichmentSMARCA21.43
227Cholestasis-pigmentary retinopathy-cleft palate syndromeEnrichmentMED121.43
228Mitochondrial dna depletion syndrome 15EnrichmentTFAM1.43
229Alpha thalassemia-x-linked intellectual disability syndromeEnrichmentATRX1.43
230Dystonia 28, childhood-onsetEnrichmentKMT2B1.43
231Bryant-li-bhoj neurodevelopmental syndrome 2EnrichmentH3-3A1.43
232Med12-related disordersEnrichmentMED121.43
23312q14 microdeletion syndromeEnrichmentHMGA21.43
234Blepharophimosis - intellectual disability syndrome, mkb typeEnrichmentMED121.43
235Acute myeloid leukemia with t(6;9) (p23;q34.1)EnrichmentDEK1.43
236Posterior hypospadiasEnrichmentAR1.43
2373q26 microduplication syndromeEnrichmentBRD41.43
238Brachydactyly-elbow wrist dysplasia syndromeEnrichmentMACROH2A11.43
239Malignant granular cell myoblastomaEnrichmentBRD71.43
240Acute myeloid leukemia with t(9;11)(p22;q23)EnrichmentKMT2A1.43
241Primary mediastinal large b-cell lymphomaEnrichmentXPO11.43
242Granular cell carcinomaEnrichmentBRD71.43
243Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)EnrichmentKMT2A1.43
244B-lymphoblastic leukemia/lymphoma with tEnrichmentKMT2A1.43
245Null pituitary adenomaEnrichmentMEN11.43
246Silent pituitary adenomaEnrichmentMEN11.43
247Progressive bulbar palsyEnrichmentMECP21.43
248X-linked emery-dreifuss muscular dystrophyEnrichmentEMD1.43
249Desmoplastic small round cell tumorEnrichmentEWSR11.43
250GigantismEnrichmentMEN11.43
251BruxismEnrichmentMECP21.43
252Inherited cancer-predisposing syndromeEnrichmentERCC3, EZH2, HOXB13, MEN1, SMARCA4, SMARCB11.42
253Leukemia, acute myeloidEnrichmentDNMT3A, KMT2A, TET21.41
254EpilepsyEnrichmentCHD2, MECP2, SETD1B1.41
255Giant cell glioblastomaEnrichmentDNMT3A, MGMT1.40
256Semilobar holoprosencephalyEnrichmentSMC1A, STAG21.35
257Congenital nervous system abnormalityEnrichmentATRX, CREBBP, DNMT3A, MECP2, SMC1A1.30
258Nervous system diseaseEnrichmentATRX, CREBBP, DNMT3A, MECP2, SMC1A1.30
259LeukodystrophyEnrichmentERCC2, POLR3A1.27
260LaryngomalaciaEnrichmentMECP21.26
261Dystonia 12EnrichmentKMT2B1.26
262Visceral steatosis, congenitalEnrichmentPRMT71.26
263Takayasu arteritisEnrichmentMLX1.26
264Intellectual developmental disorder, x-linked, syndromic, lujan-fryns typeEnrichmentMED121.26
265Wiedemann-rautenstrauch syndromeEnrichmentPOLR3A1.26
266Trichothiodystrophy 1, photosensitiveEnrichmentERCC21.26
267Intellectual developmental disorder, x-linked, syndromic, claes-jensen typeEnrichmentKDM5C1.26
268Pierpont syndromeEnrichmentTBL1XR11.26
269Sarcoma, synovialEnrichmentSS181.26
270Dyskeratosis congenita, x-linkedEnrichmentDKC11.26
271Burn-mckeown syndromeEnrichmentPOLR1A1.26
272Pituitary adenoma 1, multiple typesEnrichmentMEN11.26
273Dyskeratosis congenita, autosomal dominant 6EnrichmentACD1.26
274Neuropathy, hereditary sensory, type ieEnrichmentDNMT11.26
275Anus, imperforateEnrichmentMED121.26
276Neurodevelopmental disorder with progressive spasticity and brain abnormalitiesEnrichmentRUVBL11.26
277Tessadori-bicknell-van haaften neurodevelopmental syndrome 4EnrichmentH4C11.26
278Pilarowski-bjornsson syndromeEnrichmentCHD11.26
279Tessadori-bicknell-van haaften neurodevelopmental syndrome 3EnrichmentH4C11.26
280Tethered spinal cord syndromeEnrichmentCREBBP1.26
281Inclusion body myopathy with paget disease of bone and frontotemporal dementiaEnrichmentHNRNPA2B11.26
282Coffin-siris syndrome 2EnrichmentARID1A1.26
283Alpha thalassemia-intellectual disability syndrome type 1EnrichmentATRX1.26
284Dedifferentiated liposarcomaEnrichmentHMGA21.26
285Hypogonadotropic hypogonadism 5 with or without anosmiaEnrichmentCHD71.26
286Anaplastic astrocytomaEnrichmentATRX1.26
287Pyloric stenosisEnrichmentCHD71.26
288Myxoid liposarcomaEnrichmentFUS1.26
289Cellular ependymomaEnrichmentMEN11.26
290Tanycytic ependymomaEnrichmentMEN11.26
291Papillary ependymomaEnrichmentMEN11.26
292Intraocular pressure quantitative trait locusEnrichmentCREBBP1.26
293Periventricular leukomalaciaEnrichmentARID1A1.26
294Developmental and epileptic encephalopathy 94EnrichmentCHD21.26
295Intellectual developmental disorder, autosomal dominant 41EnrichmentTBL1XR11.26
296Parathyroid adenomaEnrichmentMEN11.26
297Laryngeal squamous cell carcinomaEnrichmentING11.26
298Growth hormone secreting pituitary adenomaEnrichmentMEN11.26
299Polr3-related leukodystrophyEnrichmentPOLR3A1.26
300SchwannomatosisEnrichmentSMARCB11.26
301Aip familial isolated pituitary adenomasEnrichmentMEN11.26
302Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentKDM1A1.26
303Familial isolated hyperparathyroidismEnrichmentMEN11.26
304Syndromic x-linked intellectual disability claes-jensen typeEnrichmentKDM5C1.26
305MyxofibrosarcomaEnrichmentFUS1.26
306Melanoma of soft tissueEnrichmentEWSR11.26
307Spindle cell sarcomaEnrichmentNUTM11.26
308Well-differentiated liposarcomaEnrichmentHMGA21.26
309Mixed phenotype acute leukemia with tEnrichmentKMT2A1.26
310Clear cell ependymomaEnrichmentMEN11.26
311Steatotic liver diseaseEnrichmentPRMT71.26
312Myelodysplastic syndrome with ring sideroblastsEnrichmentTET21.26
313Neonatal pseudo-hydrocephalic progeroid syndromeEnrichmentPOLR3A1.26
314Autosomal dominant non-syndromic intellectual disabilityEnrichmentJARID2, KDM5B, SETD1B1.17
315Trichorhinophalangeal syndrome, type iiEnrichmentRAD211.14
316Mulibrey nanismEnrichmentTRIM371.14
317Emery-dreifuss muscular dystrophy 1, x-linkedEnrichmentEMD1.14
318Nicolaides-baraitser syndromeEnrichmentSMARCA21.14
319Myopathy, autophagic vacuolar, infantile-onsetEnrichmentHNRNPA2B11.14
320Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalitiesEnrichmentPOLR2A1.14
321BlepharophimosisEnrichmentSMARCA21.14
322Emery-dreifuss muscular dystrophyEnrichmentEMD1.14
323Intellectual developmental disorder with autism and macrocephalyEnrichmentCHD81.14
324Hypomyelinating leukodystrophy 7EnrichmentPOLR3A1.14
325CraniopharyngiomaEnrichmentERCC21.14
326ProlactinomaEnrichmentMEN11.14
327Smarca2-related nicolaides-baraitser syndromeEnrichmentSMARCA21.14
328Sick sinus syndromeEnrichmentMECP21.14
329Silver-russell syndrome due to a point mutationEnrichmentHMGA21.14
330Primary hyperparathyroidismEnrichmentMEN11.14
331Full schwannomatosisEnrichmentSMARCB11.14
332Systemic mastocytosis with associated hematologic neoplasmEnrichmentTET21.14
333Benign ependymomaEnrichmentMEN11.14
334ScoliosisEnrichmentCHD7, CREBBP1.13
335Fabry diseaseEnrichmentELP11.04
336Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadismEnrichmentPOLR3A1.04
337Rubinstein-taybi syndrome 2EnrichmentEP3001.04
338Congenital ptosisEnrichmentCHD81.04
339Myeloproliferative neoplasmEnrichmentDNMT3A1.04
340GlioblastomaEnrichmentDNMT3A1.04
341Acute megakaryocytic leukemiaEnrichmentKMT2A1.04
342Aggressive systemic mastocytosisEnrichmentTET21.04
343Endometrial stromal sarcomaEnrichmentSUZ121.04
344Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentFUS, HNRNPA2B1, TAF151.02
345Prostate cancerEnrichmentAR, HOXB130.99
346Angelman syndromeEnrichmentMECP20.97
347Developmental dysplasia of the hip 1EnrichmentTRIM330.97
348Craniofacial microsomia 1EnrichmentCHAF1A0.97
349Cerebrooculofacioskeletal syndrome 1EnrichmentERCC20.97
350Wolf-hirschhorn syndromeEnrichmentCTBP10.97
351Facioscapulohumeral muscular dystrophy 1EnrichmentDNMT3B0.97
352Wilms tumor 5EnrichmentTRIM280.97
353Mitochondrial dna depletion syndrome 1EnrichmentTYMP0.97
354Renal hypoplasiaEnrichmentPRMT70.97
3553mc syndromeEnrichmentCHD70.97
356Early myoclonic encephalopathyEnrichmentPRMT70.97
357HypertrichosisEnrichmentCREBBP0.97
358Sporadic pheochromocytoma/secreting paragangliomaEnrichmentDNMT3A0.97
359Primary autosomal recessive microcephalyEnrichmentNCAPD3, PHC10.92
360Ovarian cancerEnrichmentAR, ERCC2, ERCC3, SMARCB10.91
361Multiple endocrine neoplasia, type iEnrichmentMEN10.91
362Silver-russell syndrome 1EnrichmentHMGA20.91
363MyelofibrosisEnrichmentTET20.91
364Squamous cell carcinoma, head and neckEnrichmentING10.91
365Rett syndromeEnrichmentMECP20.91
366Gastrointestinal stromal tumorEnrichmentMEN10.91
367BrachydactylyEnrichmentPRMT70.91
368Third-degree atrioventricular blockEnrichmentTET20.91
369Hereditary sensory and autonomic neuropathy type 1EnrichmentDNMT10.91
370Essential thrombocythemiaEnrichmentTET20.91
371Focal epilepsyEnrichmentMECP20.91
372Congenital hydrocephalusEnrichmentSMARCC10.91
373Overgrowth syndromeEnrichmentCHD80.91
374DystoniaEnrichmentKMT2B, MECP20.85
375Methylmalonic aciduria and homocystinuria, cblc typeEnrichmentHCFC10.85
376Mitochondrial dna depletion syndrome 4bEnrichmentTYMP0.85
377Lennox-gastaut syndromeEnrichmentCHD20.85
378HypothyroidismEnrichmentCHD70.85
379NeuroblastomaEnrichmentSMARCA40.85
380Difference of sex developmentEnrichmentAR0.85
381Inflammatory bowel disease 1EnrichmentERCC20.80
382Myoclonic-atonic epilepsyEnrichmentCHD20.80
383Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentSETD1A0.80
384Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentTET20.80
385Ventricular septal defectEnrichmentSMARCA40.80
386Hypotrichosis simplexEnrichmentERCC20.80
387Juvenile amyotrophic lateral sclerosisEnrichmentFUS0.80
388Mitochondrial neurogastrointestinal encephalomyopathyEnrichmentTYMP0.80
389Cat eye syndromeEnrichmentCHD70.76
390Frontotemporal dementia and/or amyotrophic lateral sclerosis 1EnrichmentFUS0.76
391Omenn syndromeEnrichmentCHD70.76
392MelanomaEnrichmentDNMT3A0.76
393Primary bone dysplasiaEnrichmentPRMT70.76
394Type 2 diabetes mellitusEnrichmentHMGA1, PRMT70.73
395Meningioma, familialEnrichmentSMARCB10.72
396Myelodysplastic syndromeEnrichmentTET20.72
39746,xy complete gonadal dysgenesisEnrichmentAR0.72
398OsteochondrodysplasiaEnrichmentPRMT70.72
399Movement diseaseEnrichmentPOLR3A0.72
400Diabetes mellitusEnrichmentMEN10.72
401West syndromeEnrichmentKDM2B, MLLT10.70
402Septooptic dysplasiaEnrichmentARID1A0.69
403Digeorge syndromeEnrichmentHIRA0.69
404Renal hypodysplasia/aplasia 3EnrichmentERI10.69
405MeningiomaEnrichmentSMARCB10.69
406Hypercholesterolemia, familial, 1EnrichmentSMARCA40.66
407Acute promyelocytic leukemiaEnrichmentTBL1XR10.66
408Nk-cell enteropathyEnrichmentSMARCB10.66
409MedulloblastomaEnrichmentELP10.63
410Body mass index quantitative trait locus 11EnrichmentDNMT3A, PRMT70.62
411Renal cell carcinoma, nonpapillaryEnrichmentSETD20.61
412Polydactyly, postaxial, type a1EnrichmentEP3000.61
413MyopiaEnrichmentCHD70.61
414Familial hypercholesterolemiaEnrichmentSMARCA40.61
415Male infertility with spermatogenesis disorderEnrichmentCHD70.61
416HypertensionEnrichmentMEN10.58
417Isolated congenital microcephalyEnrichmentPHC10.58
418Spastic ataxiaEnrichmentDNMT1, POLR3A0.58
419Cleft palate, isolatedEnrichmentSMARCA40.56
420Dandy-walker syndromeEnrichmentSETD20.56
421Cardiomyopathy, dilated, 1eEnrichmentMED120.56
422Polycystic liver diseaseEnrichmentRUVBL10.56
423Syndromic intellectual disabilityEnrichmentBRD40.56
424Autosomal dominant polycystic liver diseaseEnrichmentRUVBL10.56
425Alobar holoprosencephalyEnrichmentSTAG20.56
426Hereditary breast ovarian cancer syndromeEnrichmentHOXB13, MEN10.56
427Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentAR, ATRX0.55
428Neuromuscular diseaseEnrichmentEMD0.54
429Normosmic congenital hypogonadotropic hypogonadismEnrichmentCHD70.54
430Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentEMD0.52
431Parkinson's diseaseEnrichmentTBP0.52
432Dyskeratosis congenitaEnrichmentDKC10.52
433Primary ovarian insufficiencyEnrichmentBRDT, SIRT60.52
434Williams-beuren syndromeEnrichmentBAZ1B0.50
435HepatoblastomaEnrichmentERCC20.48
436Attention deficit-hyperactivity disorderEnrichmentMECP20.47
437Kallmann syndromeEnrichmentCHD70.45
438Parkinson disease, late-onsetEnrichmentTBP0.44
439Pancreatic cancerEnrichmentHOXB130.42
440Hydrops fetalis, nonimmuneEnrichmentARID1A0.41
441Auditory neuropathyEnrichmentH1-40.41
442Differentiated thyroid carcinomaEnrichmentTRIM330.37
443Non-immune hydrops fetalisEnrichmentARID1A0.35
444Male infertilityEnrichmentAR0.32
445Colorectal cancerEnrichmentARID1A, EP3000.31
446Systemic lupus erythematosusEnrichmentMECP20.28
447Cerebral palsyEnrichmentSMARCA40.28
448MyopathyEnrichmentEMD0.27
449Benign epilepsy with centrotemporal spikesEnrichmentCHD20.27
450Centralopathic epilepsyEnrichmentCHD20.25
451Gastric cancerEnrichmentHOXB130.25
452Familial thoracic aortic aneurysm and aortic dissectionEnrichmentMED120.25
453Joubert syndrome 1EnrichmentRCOR10.21
454HypertelorismEnrichmentMLLT10.20
455Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentTRRAP0.20
456Familial isolated dilated cardiomyopathyEnrichmentTMPO0.20
457Autosomal recessive non-syndromic intellectual disabilityEnrichmentKDM5B0.18
458SchizophreniaEnrichmentSETD1A0.17
459Dilated cardiomyopathyEnrichmentEMD0.11

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