Chromatin modifying enzymes

Pathway network for the Chromatin modifying enzymes SuperPath

Sources:
  • Reactome

Pathways in the Chromatin modifying enzymes SuperPath

#NameSourceGenes
1Chromatin modifying enzymesReactome
(see all 271) (see less)
2Chromatin organizationReactome
(see all 286) (see less)
3HATs acetylate histonesReactome

Gene overlap in member pathways for Chromatin modifying enzymes SuperPath

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

Disorders associated with Chromatin modifying enzymes SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Coffin-siris syndrome 1EnrichmentARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE110.83
2Autism spectrum disorderEnrichmentACTL6B, ARID1B, BCL11B, DNMT3A, EED, EHMT1, KAT6A, KDM3B, KDM5B, KDM6A, KMT2A, KMT2C, KMT5B, SETD1A, SETD2, SMARCB18.98
3Myeloma, multipleEnrichmentARID4A, CCND1, CREBBP, DNMT3A, H2AC16, H2AC17, H3C1, KDM5C, KMT2C, KMT2D, NCOR27.95
4Rare genetic intellectual disabilityEnrichmentARID1B, CREBBP, DNMT3A, EP300, KDM3B, KMT2A6.59
5Tessadori-bicknell-van haaften neurodevelopmental syndrome 4EnrichmentH2BC12, H4C1, H4C95.96
6Weaver syndromeEnrichmentEZH2, NSD1, SUZ125.10
7BlepharophimosisEnrichmentARID1B, KAT6B, SMARCA24.51
8Tessadori-bicknell-van haaften neurodevelopmental syndrome 1EnrichmentH4C1, H4C33.97
9Tessadori-bicknell-van haaften neurodevelopmental syndrome 2EnrichmentH4C1, H4C113.97
10Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP, KAT6A3.97
11Kabuki syndrome 1EnrichmentKDM6A, KMT2A, KMT2D3.82
12Complex neurodevelopmental disorderEnrichmentACTL6A, ACTL6B, H4C3, H4C5, H4C9, KAT8, KDM4B, KMT2B, MSL2, SETD1A3.72
13Corpus callosum, agenesis ofEnrichmentARID1B, BCL11A, CREBBP, SETD23.66
14Isolated corpus callosum agenesisEnrichmentARID1B, BCL11A, CREBBP, SETD23.66
15Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentARID1B, BCL11A, CREBBP, SETD23.66
16Tessadori-bicknell-van haaften neurodevelopmental syndrome 3EnrichmentH4C1, H4C53.50
17Rhabdoid tumor predisposition syndromeEnrichmentSMARCA4, SMARCB13.40
18Kleefstra syndromeEnrichmentEHMT1, KMT2C3.40
19Kleefstra syndrome due to a point mutationEnrichmentEHMT1, KMT2C3.40
20Charge syndromeEnrichmentEP300, KDM6A, KMT2D3.22
21Atrial heart septal defectEnrichmentACTL6A, HDAC8, SMARCA42.94
22Interatrial communicationEnrichmentACTL6A, HDAC8, SMARCA42.94
23MicrocephalyEnrichmentACTB, ARID1A, ARID1B, BCL11B, EP300, HDAC8, KDM2B, KMT2A, KMT2D2.93
24Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3002.81
25Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3002.81
26Nicolaides-baraitser syndromeEnrichmentARID1B, SMARCA22.63
27Smarca2-related nicolaides-baraitser syndromeEnrichmentARID1B, SMARCA22.63
28Myeloproliferative neoplasmEnrichmentDNMT3A, JAK22.42
29Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentARID1A, ARID1B, BCL11A2.37
30Wiedemann-steiner syndromeEnrichmentARID1B, KMT2A2.25
31Kleefstra syndrome 1EnrichmentEHMT1, KMT2C2.25
32Renal hypoplasiaEnrichmentKAT6B, PRMT72.25
33HypertrichosisEnrichmentARID1B, CREBBP2.25
34Diffuse large b-cell lymphomaEnrichmentCREBBP, DNMT3A, TBL1XR12.22
35Common variable immunodeficiencyEnrichmentNFKB1, NFKB22.11
36Leukemia, acute myeloidEnrichmentDNMT3A, JAK2, KMT2A, NSD12.09
37Craniofacial-deafness-hand syndromeEnrichmentPAX31.98
38Waardenburg syndrome, type 3EnrichmentPAX31.98
39TorticollisEnrichmentACTL6A1.98
40Baraitser-winter syndrome 1EnrichmentACTB1.98
41Basilicata-akhtar syndromeEnrichmentMSL31.98
42Neuropathy, hereditary sensory and autonomic, type iiiEnrichmentELP11.98
43Spermatogenic failure, x-linked, 9EnrichmentRBBP71.98
44Aniridia 2EnrichmentELP41.98
45Intellectual developmental disorder with dysmorphic facies and ptosisEnrichmentBRPF11.98
46Li-ghorbani-weisz-hubshman syndromeEnrichmentKAT81.98
47Intellectual developmental disorder, autosomal recessive 58EnrichmentELP21.98
48Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB1.98
49Ohdo syndrome, sbbys variantEnrichmentKAT6B1.98
50Becker nevus syndromeEnrichmentACTB1.98
51Dystonia-deafness syndrome 1EnrichmentACTB1.98
52Epilepsy, familial adult myoclonic, 4EnrichmentYEATS21.98
53Arboleda-tham syndromeEnrichmentKAT6A1.98
54Karayol-borroto-haghshenas neurodevelopmental syndromeEnrichmentMSL21.98
55Harel-tora neurodevelopmental syndromeEnrichmentATXN7L31.98
56Deafness, autosomal dominant 75EnrichmentTRRAP1.98
57Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB1.98
58Menke-hennekam syndrome 1EnrichmentCREBBP1.98
59Developmental delay with or without dysmorphic facies and autismEnrichmentTRRAP1.98
60Baraitser-winter syndromeEnrichmentACTB1.98
61Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP1.98
62Fischer-zirnsak progeroid syndromeEnrichmentSUPT7L1.98
63Kat6b-related multiple congenital anomalies syndromeEnrichmentKAT6B1.98
64Congenital smooth muscle hamartomaEnrichmentACTB1.98
65Developmental malformations-deafness-dystonia syndromeEnrichmentACTB1.98
66Menke-hennekam syndromeEnrichmentCREBBP1.98
67Cornelia de lange syndrome 1EnrichmentHDAC8, KMT2A1.88
68Ventricular septal defectEnrichmentNSD2, SMARCA41.88
69Cornelia de lange syndromeEnrichmentHDAC8, KMT2A1.88
70AutismEnrichmentACTL6B, CREBBP, KMT2B, KMT2D, MSL21.84
71Meningioma, familialEnrichmentSMARCB1, SMARCE11.71
72Specific learning disabilityEnrichmentDNMT3A, KMT2B1.71
73Intellectual developmental disorder, x-linked, syndromic, siderius typeEnrichmentPHF81.70
74Kabuki syndrome 2EnrichmentKDM6A1.70
75Hypothyroidism, congenital, nongoitrous, 8EnrichmentTBL1X1.70
76Branchial cleft anomaliesEnrichmentKMT2D1.70
77Melanoma, cutaneous malignant 3EnrichmentCDK41.70
78Acanthosis nigricansEnrichmentPRMT71.70
79Coffin-siris syndrome 5EnrichmentSMARCE11.70
80Gand syndromeEnrichmentGATAD2B1.70
81Wilms tumor 6EnrichmentREST1.70
82Intellectual developmental disorder with severe speech and ambulation defectsEnrichmentACTL6B1.70
83Coffin-siris syndrome 11EnrichmentSMARCD11.70
84Neurodevelopmental disorder with speech impairment and dysmorphic faciesEnrichmentSETD1A1.70
85Hydrocephalus, congenital, 5EnrichmentSMARCC11.70
86Intellectual developmental disorder, autosomal dominant 70EnrichmentSETD21.70
87Cornelia de lange syndrome 5EnrichmentHDAC81.70
88Ciliary dyskinesia, primary, 51EnrichmentBRWD11.70
89Syndromic x-linked intellectual disability siderius typeEnrichmentPHF81.70
90Heyn-sproul-jackson syndromeEnrichmentDNMT3A1.70
91Imagawa-matsumoto syndromeEnrichmentSUZ121.70
92Nil-deshwar neurodevelopmental syndromeEnrichmentDOT1L1.70
93Left ventricular noncompaction 8EnrichmentPRDM161.70
94Radioulnar synostosis with amegakaryocytic thrombocytopenia 2EnrichmentMECOM1.70
95Intellectual developmental disorder, autosomal recessive 65EnrichmentKDM5B1.70
96Rhabdoid tumor predisposition syndrome 1EnrichmentSMARCB11.70
97Deafness, autosomal dominant 27EnrichmentREST1.70
98Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizuresEnrichmentPHF21A1.70
99Cleft palate, psychomotor retardation, and distinctive facial featuresEnrichmentKDM1A1.70
100Epilepsy, early-onset, 2, with or without developmental delayEnrichmentSETD1A1.70
101Intellectual developmental disorder with seizures and language delayEnrichmentSETD1B1.70
102NeurilemmomaEnrichmentSMARCB11.70
103Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndromeEnrichmentKMT2D1.70
104Coffin-siris syndrome 3EnrichmentSMARCB11.70
105Fibromatosis, gingival, 5EnrichmentREST1.70
106Kleefstra syndrome 2EnrichmentKMT2C1.70
107Intellectual developmental disorder, autosomal dominant 51EnrichmentKMT5B1.70
108Intellectual developmental disorder, autosomal dominant 52EnrichmentASH1L1.70
109Smarca4-deficient sarcoma of thoraxEnrichmentSMARCA41.70
110Arid1b-related disorderEnrichmentARID1B1.70
111Ovarian small cell carcinomaEnrichmentSMARCA41.70
112Cohen-gibson syndromeEnrichmentEED1.70
113Short stature, brachydactyly, impaired intellectual development, and seizuresEnrichmentPRMT71.70
114Intellectual developmental disorder, autosomal dominant 68EnrichmentKMT2B1.70
115Rare genetic epilepsyEnrichmentKDM3B1.70
116Deficiency in anterior pituitary function - variable immunodeficiency syndromeEnrichmentNFKB21.70
117Blepharophimosis-impaired intellectual development syndromeEnrichmentSMARCA21.70
118Rauch-steindl syndromeEnrichmentNSD21.70
119Generalized isolated dystoniaEnrichmentKMT2B1.70
120Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeEnrichmentGATAD2B1.70
121Central centrifugal cicatricial alopeciaEnrichmentPADI31.70
122Luscan-lumish syndromeEnrichmentSETD21.70
123Rabin-pappas syndromeEnrichmentSETD21.70
124Kmt2b-related disordersEnrichmentKMT2B1.70
125Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeEnrichmentKDM1A1.70
126Acute myeloid leukemia with mll rearrangementEnrichmentKMT2A1.70
127Facial cleftEnrichmentSMARCE11.70
128Acth-independent macronodular adrenal hyperplasia 3EnrichmentKDM1A1.70
129Autosomal recessive severe congenital neutropeniaEnrichmentSMARCD21.70
1305q35 microduplication syndromeEnrichmentNSD11.70
131Keratitis, hereditaryEnrichmentELP41.68
132Spinocerebellar ataxia 7EnrichmentATXN71.68
133Foveal hypoplasia 1EnrichmentELP41.68
134Thumb deformityEnrichmentCREBBP1.68
135Genitopatellar syndromeEnrichmentKAT6B1.68
136Optic nerve hypoplasia, bilateralEnrichmentELP41.68
137Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalitiesEnrichmentKAT51.68
138Immunodeficiency, common variable, 15EnrichmentRUVBL11.68
139Menke-hennekam syndrome 2EnrichmentEP3001.68
140Mitochondrial complex iv deficiency, nuclear type 19EnrichmentKAT141.68
141Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB1.68
1423p25.3 microdeletion syndromeEnrichmentBRPF11.68
143Fetal hemoglobin quantitative trait locus 5EnrichmentBCL11A1.68
144Immunodeficiency 49, severe combinedEnrichmentBCL11B1.68
145Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalitiesEnrichmentBCL11B1.68
146Intellectual developmental disorder with persistence of fetal hemoglobinEnrichmentBCL11A1.68
147Coffin-siris syndrome 7EnrichmentDPF21.68
148Bcl11a-related intellectual disabilityEnrichmentBCL11A1.68
149MeningiomaEnrichmentSMARCB1, SMARCE11.64
150Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactylyEnrichmentKAT6B, NSD21.57
151ClubfootEnrichmentKAT6B, NSD21.57
152Cleidocranial dysplasia 1EnrichmentSUPT3H1.51
153Retinal arteries, tortuosity ofEnrichmentKAT6B1.51
154TelecanthusEnrichmentKAT6B1.51
155Methylmalonic aciduria and homocystinuria, cblx typeEnrichmentHCFC11.51
156Epilepsy, familial temporal lobe, 1EnrichmentKAT6B1.51
157Neurodevelopmental disorder with progressive spasticity and brain abnormalitiesEnrichmentRUVBL11.51
158Microangiopathy and leukoencephalopathy, pontine, autosomal dominantEnrichmentKAT6B1.51
159Tethered spinal cord syndromeEnrichmentCREBBP1.51
160Umbilical herniaEnrichmentACTL6A1.51
161Koolen-de vries syndromeEnrichmentKANSL11.51
162Angiopathy, hereditary, with nephropathy, aneurysms, and muscle crampsEnrichmentKAT6B1.51
163Cleidocranial dysplasiaEnrichmentSUPT3H1.51
164Intraocular pressure quantitative trait locusEnrichmentCREBBP1.51
165Renal cell carcinoma, nonpapillaryEnrichmentPBRM1, SETD21.45
166Polydactyly, postaxial, type a1EnrichmentBCL11A, EP3001.41
167Holoprosencephaly 2EnrichmentNSD11.40
168Fibromatosis, gingival, 1EnrichmentREST1.40
169Alopecia, androgenetic, 1EnrichmentSMARCD11.40
170TrichomegalyEnrichmentARID1B1.40
171Specific granule deficiency 1EnrichmentSMARCD21.40
172Rhabdoid tumor predisposition syndrome 2EnrichmentSMARCA41.40
173MacroglossiaEnrichmentNSD21.40
174Schwannomatosis 1EnrichmentSMARCB11.40
175Complement component c1s deficiencyEnrichmentKMT2D1.40
176Chromosome 6q24-q25 deletion syndromeEnrichmentARID1B1.40
177Sifrim-hitz-weiss syndromeEnrichmentCHD41.40
178Choanal atresia, posteriorEnrichmentKMT2D1.40
179Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.40
180Immunodeficiency, common variable, 10EnrichmentNFKB21.40
181Thrombocythemia 3EnrichmentJAK21.40
182Syndactyly, type iiiEnrichmentHDAC81.40
183Uncombable hair syndrome 1EnrichmentPADI31.40
184Severe combined immunodeficiency with sensitivity to ionizing radiationEnrichmentARID1B1.40
185Intellectual developmental disorder, autosomal dominant 65EnrichmentKDM4B1.40
186Coffin-siris syndrome 6EnrichmentARID21.40
187Epilepsy, progressive myoclonic, 12EnrichmentPRMT71.40
188Specific granule deficiency 2EnrichmentSMARCD21.40
189Snijders blok-campeau syndromeEnrichmentCHD31.40
190Coffin-siris syndrome 8EnrichmentSMARCC21.40
191Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA1.40
192Wilson-turner syndromeEnrichmentHDAC81.40
193Diets-jongmans syndromeEnrichmentKDM3B1.40
194Rela fusion-positive ependymomaEnrichmentRELA1.40
195Otosclerosis 12EnrichmentSMARCA41.40
196El hayek-chahrour neurodevelopmental syndromeEnrichmentKDM5A1.40
197Coffin-siris syndrome 4EnrichmentSMARCA41.40
198Tatton-brown-rahman syndromeEnrichmentDNMT3A1.40
199PolycythemiaEnrichmentJAK21.40
200Stolerman neurodevelopmental syndromeEnrichmentKDM6B1.40
201Blepharophimosis - intellectual disability syndromeEnrichmentSMARCA21.40
202Dystonia 28, childhood-onsetEnrichmentKMT2B1.40
203Fissured tongueEnrichmentNSD21.40
204Developmental and epileptic encephalopathy 76EnrichmentACTL6B1.40
205BronchiectasisEnrichmentBRWD11.40
206Radioulnar synostosisEnrichmentMECOM1.40
207Deletion 5q35EnrichmentNSD11.40
208Hypereosinophilic syndromeEnrichmentJAK21.40
209Acute myeloid leukemia with t(9;11)(p22;q23)EnrichmentKMT2A1.40
210Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)EnrichmentMECOM1.40
211Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)EnrichmentKMT2A1.40
212B-lymphoblastic leukemia/lymphoma with tEnrichmentKMT2A1.40
213Common variable immunodeficiency 12EnrichmentNFKB11.40
214Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndromeEnrichmentMECOM1.40
215Specific granule deficiencyEnrichmentSMARCD21.40
216Brain small vessel disease 1 with or without ocular anomaliesEnrichmentKAT6B1.39
217Aniridia 1EnrichmentELP41.39
218Aminoacylase 1 deficiencyEnrichmentACTB1.39
219Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.39
220Coffin-siris syndrome 12EnrichmentBICRA1.38
221Malignant granular cell myoblastomaEnrichmentBRD71.38
222Granular cell carcinomaEnrichmentBRD71.38
223Dandy-walker syndromeEnrichmentKMT2D, SETD21.35
224Syndromic intellectual disabilityEnrichmentKAT6A, NSD21.35
225Inherited cancer-predisposing syndromeEnrichmentCDK4, EZH2, MECOM, SMARCA4, SMARCB1, SMARCE11.31
226Kbg syndromeEnrichmentKAT6B1.29
227Fabry diseaseEnrichmentELP11.29
228Rhabdomyosarcoma 2EnrichmentPAX31.29
229Rubinstein-taybi syndrome 2EnrichmentEP3001.29
230Familial porencephalyEnrichmentKAT6B1.29
231Dystonia 12EnrichmentKMT2B1.23
232Visceral steatosis, congenitalEnrichmentPRMT71.23
233Polycythemia veraEnrichmentJAK21.23
234Intellectual developmental disorder, x-linked, syndromic, claes-jensen typeEnrichmentKDM5C1.23
235Pierpont syndromeEnrichmentTBL1XR11.23
236Oocyte/zygote/embryo maturation arrest 16EnrichmentPADI61.23
237Nail disorder, nonsyndromic congenital, 9EnrichmentARID1B1.23
238Coffin-siris syndrome 2EnrichmentARID1A1.23
239Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK21.23
240Dedifferentiated liposarcomaEnrichmentCDK41.23
241Atypical teratoid rhabdoid tumorEnrichmentSMARCB11.23
242Periventricular leukomalaciaEnrichmentARID1A1.23
243Intellectual developmental disorder, autosomal dominant 41EnrichmentTBL1XR11.23
244Desmoplastic/nodular medulloblastomaEnrichmentARID21.23
245SchwannomatosisEnrichmentSMARCB11.23
246Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentKDM1A1.23
247Syndromic x-linked intellectual disability claes-jensen typeEnrichmentKDM5C1.23
248Well-differentiated liposarcomaEnrichmentCDK41.23
249Mixed phenotype acute leukemia with tEnrichmentKMT2A1.23
250Steatotic liver diseaseEnrichmentPRMT71.23
251Coloboma of optic nerveEnrichmentELP41.22
252Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndromeEnrichmentELP41.22
253Anterior segment dysgenesis 5EnrichmentELP41.22
254Hemorrhage, intracerebralEnrichmentKAT6B1.22
255Familial adult myoclonic epilepsyEnrichmentYEATS21.22
256Inguinal herniaEnrichmentACTL6A1.22
257Waardenburg syndromeEnrichmentPAX31.22
258Sarcoma, synovialEnrichmentSS181.21
259Waardenburg syndrome, type 1EnrichmentPAX31.15
260Squamous cell carcinoma, head and neckEnrichmentING31.15
261Vesicoureteral refluxEnrichmentKAT6B1.15
262Erythrocytosis, familial, 1EnrichmentJAK21.11
263Budd-chiari syndromeEnrichmentJAK21.11
264Microtia-anotiaEnrichmentKMT2D1.11
265Potocki-shaffer syndromeEnrichmentPHF21A1.11
266Lipodystrophy, congenital generalized, type 2EnrichmentACTL6B1.11
267Immunodeficiency, common variable, 1EnrichmentNFKB21.11
268Intellectual developmental disorder, autosomal dominant 26EnrichmentKMT2D1.11
269Mantle cell lymphomaEnrichmentCCND11.11
270Sotos syndrome 1EnrichmentNSD11.11
271Full schwannomatosisEnrichmentSMARCB11.11
272Clear cell papillary renal cell carcinomaEnrichmentPBRM11.11
273Gingival fibromatosisEnrichmentREST1.11
274Autosomal dominant non-syndromic intellectual disabilityEnrichmentASH1L, KDM5B, SETD1B1.11
275Glioma susceptibility 1EnrichmentH3C11.10
276Gastroesophageal refluxEnrichmentACTL6A1.10
277Methylmalonic aciduria and homocystinuria, cblc typeEnrichmentHCFC11.10
278CryptorchidismEnrichmentKAT6B1.10
279ScoliosisEnrichmentCREBBP, NSD11.08
280HypertelorismEnrichmentELP4, KAT6B, NSD11.07
281Rheumatoid arthritisEnrichmentSUPT20H1.05
282Cryptorchidism, unilateral or bilateralEnrichmentKAT6B1.05
283Hydrops fetalis, nonimmuneEnrichmentARID1A, NSD11.02
284Sotos syndromeEnrichmentNSD11.02
285Von hippel-lindau syndromeEnrichmentCCND11.02
286Pre-eclampsiaEnrichmentNSD11.02
287AmblyopiaEnrichmentKMT2D1.02
288LymphomaEnrichmentKMT2D1.02
289GlioblastomaEnrichmentDNMT3A1.02
290HypoglycemiaEnrichmentNSD21.02
291Acute megakaryocytic leukemiaEnrichmentKMT2A1.02
292Endometrial stromal sarcomaEnrichmentSUZ121.02
293Peters-plus syndromeEnrichmentELP41.00
294Hereditary persistence of fetal hemoglobin-sickle cell disease syndromeEnrichmentBCL11A1.00
295Bladder cancerEnrichmentARID1A, KDM6A0.94
296Primary ovarian insufficiencyEnrichmentBRWD1, JAK2, MECOM0.94
297Dyskeratosis congenita, autosomal dominant 1EnrichmentMECOM0.94
298Wolf-hirschhorn syndromeEnrichmentNSD20.94
299Clear cell renal cell carcinomaEnrichmentPBRM10.94
300Early myoclonic encephalopathyEnrichmentPRMT70.94
301Sporadic pheochromocytoma/secreting paragangliomaEnrichmentDNMT3A0.94
302EpicanthusEnrichmentKAT6B0.93
303Non-immune hydrops fetalisEnrichmentARID1A, NSD10.90
304Microphthalmia/coloboma 12EnrichmentELP40.90
305MyelofibrosisEnrichmentJAK20.88
306Dyskeratosis congenita, autosomal dominant 2EnrichmentMECOM0.88
307BrachydactylyEnrichmentPRMT70.88
308Essential thrombocythemiaEnrichmentJAK20.88
309Congenital hydrocephalusEnrichmentSMARCC10.88
310Overgrowth syndromeEnrichmentNSD10.88
311MedulloblastomaEnrichmentELP10.87
312Heart diseaseEnrichmentCREBBP0.87
313Coloboma of maculaEnrichmentELP40.84
314Fanconi anemia, complementation group cEnrichmentHDAC80.83
315NeuroblastomaEnrichmentSMARCA40.83
316Polycystic liver diseaseEnrichmentRUVBL10.79
317Autosomal dominant polycystic liver diseaseEnrichmentRUVBL10.79
318Leukemia, acute lymphoblastic 3EnrichmentJAK20.78
319Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentSETD1A0.78
320Leukemia, chronic lymphocyticEnrichmentCCND10.74
321Ciliary dyskinesia, primary, 3EnrichmentNFKB10.74
322PolymicrogyriaEnrichmentEHMT10.74
323MelanomaEnrichmentDNMT3A0.74
324Primary bone dysplasiaEnrichmentPRMT70.74
325CraniosynostosisEnrichmentKAT6A0.72
326OsteochondrodysplasiaEnrichmentPRMT70.70
327Combined immunodeficiencyEnrichmentBCL11B0.68
328Combined t cell and b cell immunodeficiencyEnrichmentBCL11B0.68
329Combined t and b cell immunodeficiencyEnrichmentBCL11B0.68
330Septooptic dysplasiaEnrichmentARID1A0.67
331Hypercholesterolemia, familial, 1EnrichmentSMARCA40.64
332Neural tube defectsEnrichmentKMT5B0.64
333Acute promyelocytic leukemiaEnrichmentTBL1XR10.64
334Chromosome 1p36 deletion syndromeEnrichmentPRDM160.64
335Protein-deficiency anemiaEnrichmentNSD20.64
336Nk-cell enteropathyEnrichmentSMARCB10.64
337Pituitary stalk interruption syndromeEnrichmentSMARCA20.61
338ThrombocytopeniaEnrichmentMECOM, NSD20.60
339Colorectal cancerEnrichmentARID1A, CCND1, EP3000.60
340Wilms tumor 1EnrichmentREST0.58
341Familial hypercholesterolemiaEnrichmentSMARCA40.58
342Male infertility with spermatogenesis disorderEnrichmentKMT2D0.58
343Body mass index quantitative trait locus 11EnrichmentDNMT3A, PRMT70.58
344Hydrocephalus, congenital, 1EnrichmentSETD20.56
345GliosarcomaEnrichmentDNMT3A0.56
346Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentREST, TRRAP0.55
347Melanoma, cutaneous malignant 1EnrichmentCDK40.54
348Cleft palate, isolatedEnrichmentSMARCA40.54
349Giant cell glioblastomaEnrichmentDNMT3A0.54
350CakutEnrichmentKAT6B0.52
351Beckwith-wiedemann syndromeEnrichmentNSD10.52
352Polycystic kidney diseaseEnrichmentHDAC80.52
353Non-syndromic x-linked intellectual disabilityEnrichmentHCFC10.50
354SchizophreniaEnrichmentEHMT1, SETD1A0.48
355Congenital nervous system abnormalityEnrichmentCREBBP, DNMT3A, KMT2D0.45
356Nervous system diseaseEnrichmentCREBBP, DNMT3A, KMT2D0.45
357StrabismusEnrichmentKMT2D0.38
358Visceral heterotaxy 5EnrichmentBRWD10.33
359Lung cancerEnrichmentKMT2D0.32
360Male infertilityEnrichmentBRWD10.30
361Left ventricular noncompactionEnrichmentPRDM160.30
362DystoniaEnrichmentKMT2B0.30
363Cerebral palsyEnrichmentSMARCA40.26
364EpilepsyEnrichmentSETD1B0.26
365Rare genetic deafnessEnrichmentPAX30.25
366Type 2 diabetes mellitusEnrichmentPRMT70.24
367Gastric cancerEnrichmentCDK40.24
368Hypertrophic cardiomyopathyEnrichmentNSD20.24
369West syndromeEnrichmentKDM2B0.23
370Joubert syndrome 1EnrichmentRCOR10.20
371Familial isolated dilated cardiomyopathyEnrichmentPRDM160.18
372Undetermined early-onset epileptic encephalopathyEnrichmentACTL6B0.17
373Autosomal recessive non-syndromic intellectual disabilityEnrichmentKDM5B0.16
374Ovarian cancerEnrichmentSMARCB10.06

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