Epigenetic regulation by WDR5-containing histone modifying complexes

Pathway network for the Epigenetic regulation by WDR5-containing histone modifying complexes SuperPath

Sources:
  • Reactome

Pathways in the Epigenetic regulation by WDR5-containing histone modifying complexes SuperPath

#NameSourceGenes
1Epigenetic regulation by WDR5-containing histone modifying complexesReactome
2Epigenetic regulation of gene expressionReactome
(see all 317) (see less)
3MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosisReactome
4Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexesReactome
5Epigenetic regulation of gene expression by MLL3 and MLL4 complexesReactome

Gene overlap in member pathways for Epigenetic regulation by WDR5-containing histone modifying complexes SuperPath

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

Disorders associated with Epigenetic regulation by WDR5-containing histone modifying complexes SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Coffin-siris syndrome 1EnrichmentARID1A, ARID1B, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE19.31
2Tessadori-bicknell-van haaften neurodevelopmental syndrome 4EnrichmentH2BC12, H4C1, H4C96.03
3Myeloma, multipleEnrichmentCREBBP, DNMT3A, H3C1, KMT2C, KMT2D, NCOR2, RXRA, TET2, TET35.27
4Rare genetic intellectual disabilityEnrichmentARID1B, CREBBP, DNMT3A, EP300, KMT2A4.78
5Complex neurodevelopmental disorderEnrichmentCDK8, H4C3, H4C5, H4C9, KAT8, KMT2B, MED13, MED27, SETD1A4.70
6Kabuki syndrome 1EnrichmentKDM6A, KMT2A, KMT2D4.46
7Charge syndromeEnrichmentEP300, KDM6A, KMT2D4.12
8Tessadori-bicknell-van haaften neurodevelopmental syndrome 1EnrichmentH4C1, H4C34.01
9Tessadori-bicknell-van haaften neurodevelopmental syndrome 2EnrichmentH4C1, H4C114.01
10Bryant-li-bhoj neurodevelopmental syndrome 2EnrichmentH3-3A, H3-3B4.01
11Tessadori-bicknell-van haaften neurodevelopmental syndrome 3EnrichmentH4C1, H4C53.54
12Corpus callosum, agenesis ofEnrichmentARID1B, CREBBP, ERCC2, MED123.49
13Isolated corpus callosum agenesisEnrichmentARID1B, CREBBP, ERCC2, MED123.49
14Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentARID1B, CREBBP, ERCC2, MED123.49
15Treacher collins syndrome 1EnrichmentPOLR1B, POLR1C, POLR1D3.38
16Rhabdoid tumor predisposition syndromeEnrichmentSMARCA4, SMARCB13.26
17Kleefstra syndromeEnrichmentEHMT1, KMT2C3.26
18Witteveen-kolk syndromeEnrichmentSIN3A, SIN3B3.26
19Kleefstra syndrome due to a point mutationEnrichmentEHMT1, KMT2C3.26
20Congenital generalized lipodystrophyEnrichmentAGPAT2, PPARG3.24
21TrichothiodystrophyEnrichmentERCC2, ERCC3, GTF2H53.02
22Autism spectrum disorderEnrichmentARID1B, DNMT3A, EED, EHMT1, KDM6A, KMT2A, KMT2C, SETD1A, SMARCB12.99
23Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3002.85
24Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3002.85
25Weaver syndromeEnrichmentEZH2, SUZ122.79
26Myelodysplastic syndrome with ring sideroblastsEnrichmentSF3B1, TET22.79
27Leukemia, acute myeloidEnrichmentCEBPA, DNMT3A, KMT2A, SF3B1, TET22.64
28MicrocephalyEnrichmentABL1, ACTB, ARID1A, ARID1B, EP300, KMT2A, KMT2D, MED12, SMARCA52.62
29Glioma susceptibility 1EnrichmentH3-3A, H3C12.58
30Nicolaides-baraitser syndromeEnrichmentARID1B, SMARCA22.50
31BlepharophimosisEnrichmentARID1B, SMARCA22.50
32Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentABL1, SF3B12.50
33Smarca2-related nicolaides-baraitser syndromeEnrichmentARID1B, SMARCA22.50
34Bladder cancerEnrichmentARID1A, ERCC2, KDM6A, RB12.36
35Inherited acute myeloid leukemiaEnrichmentCEBPA, ZCCHC82.28
36Xeroderma pigmentosum-cockayne syndrome complexEnrichmentERCC2, ERCC32.28
37Lip and oral cavity carcinomaEnrichmentABL1, RB12.22
38Cerebrooculofacioskeletal syndrome 1EnrichmentERCC2, ERCC62.11
39Wiedemann-steiner syndromeEnrichmentARID1B, KMT2A2.11
40Kleefstra syndrome 1EnrichmentEHMT1, KMT2C2.11
41Immunodeficiency-centromeric instability-facial anomalies syndromeEnrichmentDNMT3B, UHRF12.11
42HypertrichosisEnrichmentARID1B, CREBBP2.11
43Heart diseaseEnrichmentABL1, CREBBP2.09
44Diffuse large b-cell lymphomaEnrichmentCREBBP, DNMT3A, TBL1XR12.03
45Kabuki syndrome 2EnrichmentKDM6A2.01
46Hypothyroidism, congenital, nongoitrous, 8EnrichmentTBL1X2.01
47Branchial cleft anomaliesEnrichmentKMT2D2.01
48Coronary heart disease 7EnrichmentCD362.01
49Intellectual developmental disorder, autosomal recessive 18, with or without epilepsyEnrichmentMED232.01
50Lipodystrophy, familial partial, type 5EnrichmentCIDEC2.01
51Lissencephaly 7 with cerebellar hypoplasiaEnrichmentCDK52.01
52Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasiaEnrichmentMED272.01
53Myopathy with rimmed ubiquitin-positive autophagic vacuolation, autosomal dominantEnrichmentPLIN42.01
54Lipodystrophy, congenital generalized, type 1EnrichmentAGPAT22.01
55Spinocerebellar ataxia 38EnrichmentELOVL52.01
56Platelet glycoprotein iv deficiencyEnrichmentCD362.01
57Plasma triglyceride level quantitative trait locusEnrichmentANGPTL42.01
58Deafness, autosomal dominant 79EnrichmentSCD52.01
59Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndromeEnrichmentKMT2D2.01
60Kleefstra syndrome 2EnrichmentKMT2C2.01
61Bryant-li-bhoj neurodevelopmental syndrome 1EnrichmentH3-3A2.01
62Menke-hennekam syndrome 1EnrichmentCREBBP2.01
63Guillouet-gordon syndromeEnrichmentMED162.01
64Trilateral retinoblastomaEnrichmentRB12.01
65Pparg-associated congenital generalized lipodystrophyEnrichmentPPARG2.01
66Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP2.01
67Autosomal dominant charcot-marie-tooth disease type 2 due to dgat2 mutationEnrichmentDGAT22.01
68Acute myeloid leukemia with mutated cebpaEnrichmentCEBPA2.01
69Menke-hennekam syndromeEnrichmentCREBBP2.01
70Primary triglyceride deposit cardiomyovasculopathyEnrichmentPNPLA22.01
71Lung oat cell carcinomaEnrichmentRB12.01
72Leukemia, chronic myeloidEnrichmentABL1, SF3B11.98
73Hydrocephalus, congenital, 1EnrichmentCDK8, MED121.97
74Li-ghorbani-weisz-hubshman syndromeEnrichmentKAT81.91
75Neurodevelopmental disorder with speech impairment and dysmorphic faciesEnrichmentSETD1A1.91
76Adrenal cortical adenomaEnrichmentMEN11.91
77Epilepsy, early-onset, 2, with or without developmental delayEnrichmentSETD1A1.91
78Epilepsy, familial adult myoclonic, 4EnrichmentYEATS21.91
79Intellectual developmental disorder with seizures and language delayEnrichmentSETD1B1.91
80Intellectual developmental disorder, autosomal dominant 68EnrichmentKMT2B1.91
81Suleiman-el-hattab syndromeEnrichmentTASP11.91
82Generalized isolated dystoniaEnrichmentKMT2B1.91
83Kmt2b-related disordersEnrichmentKMT2B1.91
84Acute myeloid leukemia with mll rearrangementEnrichmentKMT2A1.91
85Adrenal adenomaEnrichmentMEN11.91
86Inherited cancer-predisposing syndromeEnrichmentCEBPA, ERCC3, EZH2, MEN1, RB1, SMARCA4, SMARCB1, SMARCE11.91
87Hyperlipoproteinemia, type iEnrichmentLPL1.71
88ArgininemiaEnrichmentMED231.71
89Thumb deformityEnrichmentCREBBP1.71
90Ebstein anomalyEnrichmentCDK81.71
91Carotid intimal medial thickness 1EnrichmentPPARG1.71
92Hardikar syndromeEnrichmentMED121.71
93Opitz-kaveggia syndromeEnrichmentMED121.71
94Neutral lipid storage disease with myopathyEnrichmentPNPLA21.71
95Complement component c1s deficiencyEnrichmentKMT2D1.71
96Lipase deficiency, combinedEnrichmentLPL1.71
97Chromosome 13q14 deletion syndromeEnrichmentRB11.71
98Choanal atresia, posteriorEnrichmentKMT2D1.71
99Congenital heart defects and skeletal malformations syndromeEnrichmentABL11.71
100Ohdo syndrome, x-linkedEnrichmentMED121.71
101Menke-hennekam syndrome 2EnrichmentEP3001.71
102Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP1.71
103Familial lipoprotein lipase deficiencyEnrichmentLPL1.71
104Cholestasis-pigmentary retinopathy-cleft palate syndromeEnrichmentMED121.71
105Intellectual developmental disorder with hypotonia and behavioral abnormalitiesEnrichmentCDK81.71
106Med12-related disordersEnrichmentMED121.71
107Familial partial lipodystrophyEnrichmentPPARG1.71
108Blepharophimosis - intellectual disability syndrome, mkb typeEnrichmentMED121.71
109Familial retinoblastomaEnrichmentRB11.71
110TorticollisEnrichmentACTL6A1.63
111Baraitser-winter syndrome 1EnrichmentACTB1.63
112Spermatogenic failure, x-linked, 9EnrichmentRBBP71.63
113Xeroderma pigmentosum, complementation group bEnrichmentERCC31.63
114Coffin-siris syndrome 5EnrichmentSMARCE11.63
115Gand syndromeEnrichmentGATAD2B1.63
116Polydactyly, postaxial, type a6EnrichmentZNF1411.63
117Coffin-siris syndrome 11EnrichmentSMARCD11.63
118Hydrocephalus, congenital, 5EnrichmentSMARCC11.63
119Leukodystrophy, hypomyelinating, 27EnrichmentPOLR1A1.63
120Treacher collins syndrome 4EnrichmentPOLR1B1.63
121Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB1.63
122Xeroderma pigmentosum, complementation group dEnrichmentERCC21.63
123Heyn-sproul-jackson syndromeEnrichmentDNMT3A1.63
124Imagawa-matsumoto syndromeEnrichmentSUZ121.63
125Developmental delay with variable intellectual disability and dysmorphic faciesEnrichmentJARID21.63
126Trichothiodystrophy 2, photosensitiveEnrichmentERCC31.63
127Xeroderma pigmentosum group bEnrichmentERCC31.63
128Becker nevus syndromeEnrichmentACTB1.63
129Dystonia-deafness syndrome 1EnrichmentACTB1.63
130Rhabdoid tumor predisposition syndrome 1EnrichmentSMARCB11.63
131Treacher collins syndrome 2EnrichmentPOLR1D1.63
132Cerebrooculofacioskeletal syndrome 2EnrichmentERCC21.63
133Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathyEnrichmentMORC21.63
134Trichothiodystrophy 3, photosensitiveEnrichmentGTF2H51.63
135NeurilemmomaEnrichmentSMARCB11.63
136Coffin-siris syndrome 3EnrichmentSMARCB11.63
137Tet3-related beck-fahrner syndromeEnrichmentTET31.63
138Smarca4-deficient sarcoma of thoraxEnrichmentSMARCA41.63
139Arid1b-related disorderEnrichmentARID1B1.63
140Ovarian small cell carcinomaEnrichmentSMARCA41.63
141Cohen-gibson syndromeEnrichmentEED1.63
142Charcot-marie-tooth disease, axonal, type 2zEnrichmentMORC21.63
143Blepharophimosis-impaired intellectual development syndromeEnrichmentSMARCA21.63
144Coffin-siris syndrome 7EnrichmentDPF21.63
145Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB1.63
146Beck-fahrner syndromeEnrichmentTET31.63
147Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeEnrichmentGATAD2B1.63
148Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 5EnrichmentZCCHC81.63
149Baraitser-winter syndromeEnrichmentACTB1.63
150Chromosome 15q24 deletion syndromeEnrichmentSIN3A1.63
151Facial cleftEnrichmentSMARCE11.63
152Wilms tumor 7EnrichmentTRIM281.63
153Autosomal recessive severe congenital neutropeniaEnrichmentSMARCD21.63
154Congenital smooth muscle hamartomaEnrichmentACTB1.63
155Xeroderma pigmentosum group dEnrichmentERCC21.63
156Developmental malformations-deafness-dystonia syndromeEnrichmentACTB1.63
157Myelodysplastic neoplasm with increased blasts type 2EnrichmentTET21.63
158Myelodysplastic neoplasm with increased blasts type 1EnrichmentTET21.63
159Myelodysplastic neoplasm with low blastsEnrichmentTET21.63
160Hyperparathyroidism 1EnrichmentMEN11.62
161Mitochondrial complex iv deficiency, nuclear type 19EnrichmentKAT141.62
162Medullary thyroid carcinomaEnrichmentMEN11.62
163InsulinomaEnrichmentMEN11.62
164Dystonia 28, childhood-onsetEnrichmentKMT2B1.62
165Acute myeloid leukemia with t(9;11)(p22;q23)EnrichmentKMT2A1.62
166Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)EnrichmentKMT2A1.62
167B-lymphoblastic leukemia/lymphoma with tEnrichmentKMT2A1.62
168Null pituitary adenomaEnrichmentMEN11.62
169Silent pituitary adenomaEnrichmentMEN11.62
170GigantismEnrichmentMEN11.62
171Xeroderma pigmentosum, variant typeEnrichmentERCC2, ERCC31.58
172Meningioma, familialEnrichmentSMARCB1, SMARCE11.58
173Myelodysplastic syndromeEnrichmentSF3B1, TET21.58
174Atrial heart septal defectEnrichmentACTL6A, SMARCA41.58
175Interatrial communicationEnrichmentACTL6A, SMARCA41.58
176Specific learning disabilityEnrichmentDNMT3A, KMT2B1.58
177RetinoblastomaEnrichmentRB11.53
178Intellectual developmental disorder, x-linked, syndromic, lujan-fryns typeEnrichmentMED121.53
179Pierpont syndromeEnrichmentTBL1XR11.53
180Myoglobinuria, acute recurrent, autosomal recessiveEnrichmentLPIN11.53
181Osteogenic sarcomaEnrichmentRB11.53
182Adiponectin deficiencyEnrichmentADIPOQ1.53
183Lipodystrophy, familial partial, type 6EnrichmentLIPE1.53
184Woolly hair, autosomal recessive 3EnrichmentRB11.53
185Microcephaly, postnatal progressive, with seizures and brain atrophyEnrichmentMED171.53
186Lipodystrophy, familial partial, type 4EnrichmentPLIN11.53
187Anus, imperforateEnrichmentMED121.53
188Intellectual developmental disorder, autosomal dominant 61EnrichmentMED131.53
189Hypotrichosis 8EnrichmentRB11.53
190Tethered spinal cord syndromeEnrichmentCREBBP1.53
191Squamous cell carcinomaEnrichmentRB11.53
192T-cell acute lymphoblastic leukemiaEnrichmentABL11.53
193Intraocular pressure quantitative trait locusEnrichmentCREBBP1.53
194Intellectual developmental disorder, autosomal dominant 41EnrichmentTBL1XR11.53
195Bone osteosarcomaEnrichmentRB11.53
196MeningiomaEnrichmentSMARCB1, SMARCE11.51
197Differentiated thyroid carcinomaEnrichmentNCOA4, PPARG1.48
198Dystonia 12EnrichmentKMT2B1.44
199Methylmalonic aciduria and homocystinuria, cblx typeEnrichmentHCFC11.44
200Pituitary adenoma 1, multiple typesEnrichmentMEN11.44
201Koolen-de vries syndromeEnrichmentKANSL11.44
202Cellular ependymomaEnrichmentMEN11.44
203Tanycytic ependymomaEnrichmentMEN11.44
204Papillary ependymomaEnrichmentMEN11.44
205Parathyroid adenomaEnrichmentMEN11.44
206Growth hormone secreting pituitary adenomaEnrichmentMEN11.44
207Aip familial isolated pituitary adenomasEnrichmentMEN11.44
208Familial isolated hyperparathyroidismEnrichmentMEN11.44
209Mixed phenotype acute leukemia with tEnrichmentKMT2A1.44
210Clear cell ependymomaEnrichmentMEN11.44
211Isolated growth hormone deficiency, type iiEnrichmentMED131.41
212Small cell cancer of the lungEnrichmentRB11.41
213Microtia-anotiaEnrichmentKMT2D1.41
214Lipodystrophy, familial partial, type 3EnrichmentPPARG1.41
215Leptin deficiency or dysfunctionEnrichmentPPARG1.41
216Lynch syndrome 4EnrichmentRB11.41
217Intellectual developmental disorder, autosomal dominant 26EnrichmentKMT2D1.41
218Blood platelet diseaseEnrichmentCD361.41
219Hereditary recurrent myoglobinuriaEnrichmentLPIN11.41
220Coronary artery anomalyEnrichmentLPL1.41
221Cerebral malariaEnrichmentCD361.41
222Pituitary stalk interruption syndromeEnrichmentDNMT1, SMARCA21.39
223Alopecia, androgenetic, 1EnrichmentSMARCD11.34
224Immunodeficiency-centromeric instability-facial anomalies syndrome 1EnrichmentDNMT3B1.34
225TrichomegalyEnrichmentARID1B1.34
226Specific granule deficiency 1EnrichmentSMARCD21.34
227Treacher collins syndrome 3EnrichmentPOLR1C1.34
228Spinocerebellar ataxia 17EnrichmentTBP1.34
229Waardenburg syndrome, type 4cEnrichmentPOLR2F1.34
230Rhabdoid tumor predisposition syndrome 2EnrichmentSMARCA41.34
231Schwannomatosis 1EnrichmentSMARCB11.34
232Chromosome 6q24-q25 deletion syndromeEnrichmentARID1B1.34
233Sifrim-hitz-weiss syndromeEnrichmentCHD41.34
234Leukoencephalopathy, progressive, with ovarian failureEnrichmentPOLR1C1.34
235Immunodeficiency 75 with lymphoproliferationEnrichmentTET21.34
236Severe combined immunodeficiency with sensitivity to ionizing radiationEnrichmentARID1B1.34
237Specific granule deficiency 2EnrichmentSMARCD21.34
238Snijders blok-campeau syndromeEnrichmentCHD31.34
239Coffin-siris syndrome 8EnrichmentSMARCC21.34
240Facioscapulohumeral muscular dystrophy 4, digenicEnrichmentDNMT3B1.34
241Cerebellar ataxia, deafness, and narcolepsy, autosomal dominantEnrichmentDNMT11.34
242Leukodystrophy, hypomyelinating, 11EnrichmentPOLR1C1.34
243Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung diseaseEnrichmentPOLR2F1.34
244Otosclerosis 12EnrichmentSMARCA41.34
245Coffin-siris syndrome 4EnrichmentSMARCA41.34
246Tatton-brown-rahman syndromeEnrichmentDNMT3A1.34
247Acrofacial dysostosis, cincinnati typeEnrichmentPOLR1A1.34
248Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB1.34
249Blepharophimosis - intellectual disability syndromeEnrichmentSMARCA21.34
250Cockayne syndrome type 3EnrichmentERCC61.34
251Acute myeloid leukemia with t(6;9) (p23;q34.1)EnrichmentDEK1.34
252Specific granule deficiencyEnrichmentSMARCD21.34
253Polydactyly, postaxial, type a1EnrichmentEP300, ZNF1411.33
254ProlactinomaEnrichmentMEN11.32
255Primary hyperparathyroidismEnrichmentMEN11.32
256Benign ependymomaEnrichmentMEN11.32
257Hyperlipidemia, familial combined, 3EnrichmentLPL1.31
258Rubinstein-taybi syndrome 2EnrichmentEP3001.31
259AmblyopiaEnrichmentKMT2D1.31
260LymphomaEnrichmentKMT2D1.31
261Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentCEBPA1.31
262Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentARID1A, ARID1B1.28
263GliosarcomaEnrichmentDNMT3A, PPARG1.28
264AutismEnrichmentCREBBP, KMT2B, KMT2D1.24
265Giant cell glioblastomaEnrichmentDNMT3A, PPARG1.23
266Acute megakaryocytic leukemiaEnrichmentKMT2A1.23
267Moyamoya angiopathyEnrichmentABL11.17
268B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentABL11.17
269Waardenburg syndrome, type 2aEnrichmentPOLR2F1.16
270Night blindness, congenital stationary, type 1bEnrichmentZNF4541.16
271Trichothiodystrophy 1, photosensitiveEnrichmentERCC21.16
272De sanctis-cacchione syndromeEnrichmentERCC61.16
273Sarcoma, synovialEnrichmentSS181.16
274Burn-mckeown syndromeEnrichmentPOLR1A1.16
275Uv-sensitive syndrome 1EnrichmentERCC61.16
276Neuropathy, hereditary sensory, type ieEnrichmentDNMT11.16
277Nail disorder, nonsyndromic congenital, 9EnrichmentARID1B1.16
278Coffin-siris syndrome 2EnrichmentARID1A1.16
279Umbilical herniaEnrichmentACTL6A1.16
280Wieacker-wolff syndromeEnrichmentCCNH1.16
281Uv-sensitive syndromeEnrichmentERCC61.16
282Premature ovarian failure 11EnrichmentERCC61.16
283Atypical teratoid rhabdoid tumorEnrichmentSMARCB11.16
284Periventricular leukomalaciaEnrichmentARID1A1.16
285Neurodegeneration, childhood-onset, with brain atrophyEnrichmentUBTF1.16
286SchwannomatosisEnrichmentSMARCB11.16
287Non-syndromic x-linked intellectual disabilityEnrichmentHCFC1, MED121.15
288Familial adult myoclonic epilepsyEnrichmentYEATS21.15
289Multiple endocrine neoplasia, type iEnrichmentMEN11.09
290Gastrointestinal stromal tumorEnrichmentMEN11.09
291Macular degeneration, age-related, 5EnrichmentERCC61.04
292Aminoacylase 1 deficiencyEnrichmentACTB1.04
293CraniopharyngiomaEnrichmentERCC21.04
294Full schwannomatosisEnrichmentSMARCB11.04
295Systemic mastocytosis with associated hematologic neoplasmEnrichmentTET21.04
296Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.04
297Methylmalonic aciduria and homocystinuria, cblc typeEnrichmentHCFC11.03
298Cornelia de lange syndrome 1EnrichmentKMT2A0.98
299Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentSETD1A0.98
300Cornelia de lange syndromeEnrichmentKMT2A0.98
301Capillary malformations, congenitalEnrichmentCCNH0.95
302Cockayne syndrome aEnrichmentERCC60.95
303Hypogonadotropic hypogonadism 1 with or without anosmiaEnrichmentPOLR2F0.95
304Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadismEnrichmentPOLR1C0.95
305Night blindness, congenital stationary, type 1cEnrichmentZNF4540.95
306Myeloproliferative neoplasmEnrichmentDNMT3A0.95
307GlioblastomaEnrichmentDNMT3A0.95
308Aggressive systemic mastocytosisEnrichmentTET20.95
309Rare syndromic intellectual disabilityEnrichmentUBTF0.95
310Endometrial stromal sarcomaEnrichmentSUZ120.95
311Diaphragmatic hernia, congenitalEnrichmentCDK80.92
312Acute promyelocytic leukemiaEnrichmentTBL1XR10.92
313Diabetes mellitusEnrichmentMEN10.90
314Lung cancer susceptibility 3EnrichmentRB10.89
315Cockayne syndrome bEnrichmentERCC60.88
316Klippel-trenaunay-weber syndromeEnrichmentCCNH0.88
317Melanoma, uvealEnrichmentSF3B10.88
318Telangiectasia, hereditary hemorrhagic, type 1EnrichmentCCNH0.88
319Facioscapulohumeral muscular dystrophy 1EnrichmentDNMT3B0.88
320Waardenburg syndrome, type 4aEnrichmentPOLR2F0.88
321Wilms tumor 5EnrichmentTRIM280.88
322Hemangioma, capillary infantileEnrichmentCCNH0.88
323Basal cell carcinoma 1EnrichmentCCNH0.88
324Inguinal herniaEnrichmentACTL6A0.88
325Waardenburg syndromeEnrichmentPOLR2F0.88
326Sporadic pheochromocytoma/secreting paragangliomaEnrichmentDNMT3A0.88
327Male infertility with spermatogenesis disorderEnrichmentKMT2D0.86
328Waardenburg syndrome, type 1EnrichmentPOLR2F0.82
329MyelofibrosisEnrichmentTET20.82
330Waardenburg syndrome, type 2eEnrichmentPOLR2F0.82
331Capillary malformation-arteriovenous malformation 1EnrichmentCCNH0.82
332Third-degree atrioventricular blockEnrichmentTET20.82
333Hereditary sensory and autonomic neuropathy type 1EnrichmentDNMT10.82
334Essential thrombocythemiaEnrichmentTET20.82
335Cockayne syndromeEnrichmentERCC60.82
336Hereditary hemorrhagic telangiectasiaEnrichmentCCNH0.82
337Congenital hydrocephalusEnrichmentSMARCC10.82
338Dandy-walker syndromeEnrichmentKMT2D0.81
339Cardiomyopathy, dilated, 1eEnrichmentMED120.81
340Syndromic intellectual disabilityEnrichmentMED160.81
341Heart, malformation ofEnrichmentCDK80.79
342Lung cancerEnrichmentERCC6, KMT2D0.77
343Gastroesophageal refluxEnrichmentACTL6A0.76
344Ewing sarcomaEnrichmentSMARCA50.76
345NeuroblastomaEnrichmentSMARCA40.76
346HypertensionEnrichmentMEN10.75
347Cardiomyopathy, dilated, 1aEnrichmentLPL0.73
348Inflammatory bowel disease 1EnrichmentERCC20.72
349Arteriovenous malformationEnrichmentCCNH0.72
350Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentTET20.72
351Ventricular septal defectEnrichmentSMARCA40.72
352Hypotrichosis simplexEnrichmentERCC20.72
353MalariaEnrichmentCD360.69
354Precursor t-cell acute lymphoblastic leukemiaEnrichmentABL10.69
355Myopathy, x-linked, with excessive autophagyEnrichmentCCNH0.68
356PolymicrogyriaEnrichmentEHMT10.68
357MelanomaEnrichmentDNMT3A0.68
358Ovarian cancerEnrichmentERCC2, ERCC3, RB1, SMARCB10.68
359ScoliosisEnrichmentCREBBP0.67
360Colorectal cancerEnrichmentEP300, PPARG0.67
361StrabismusEnrichmentKMT2D0.63
362Septooptic dysplasiaEnrichmentARID1A0.61
363Hypercholesterolemia, familial, 1EnrichmentSMARCA40.58
364Stereotypic movement disorderEnrichmentJARID20.58
365Nk-cell enteropathyEnrichmentSMARCB10.58
366Congenital nervous system abnormalityEnrichmentCREBBP, KMT2D0.55
367Nervous system diseaseEnrichmentCREBBP, KMT2D0.55
368Wilms tumor 1EnrichmentTRIM280.52
369Familial hypercholesterolemiaEnrichmentSMARCA40.52
370Body mass index quantitative trait locus 11EnrichmentDNMT3A, PPARG0.49
371Autosomal dominant non-syndromic intellectual disabilityEnrichmentJARID2, SETD1B0.49
372Cleft palate, isolatedEnrichmentSMARCA40.48
373Type 2 diabetes mellitusEnrichmentPPARG0.47
374DystoniaEnrichmentKMT2B0.46
375Familial thoracic aortic aneurysm and aortic dissectionEnrichmentMED120.45
376Parkinson's diseaseEnrichmentTBP0.44
377Dyskeratosis congenitaEnrichmentZCCHC80.44
378Williams-beuren syndromeEnrichmentBAZ1B0.42
379LeukodystrophyEnrichmentERCC20.42
380EpilepsyEnrichmentSETD1B0.41
381HepatoblastomaEnrichmentERCC20.41
382SchizophreniaEnrichmentEHMT1, SETD1A0.40
383Congenital stationary night blindnessEnrichmentZNF4540.38
384Kallmann syndromeEnrichmentPOLR2F0.38
385Parkinson disease, late-onsetEnrichmentTBP0.36
386Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentPPARGC1A0.36
387Autosomal recessive non-syndromic intellectual disabilityEnrichmentMED230.36
388Hydrops fetalis, nonimmuneEnrichmentARID1A0.34
389Hereditary breast ovarian cancer syndromeEnrichmentMEN10.31
390Hirschsprung disease 1EnrichmentPOLR2F0.30
391Non-immune hydrops fetalisEnrichmentARID1A0.28
392Cerebral palsyEnrichmentSMARCA40.22
393Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentMYO1C0.15
394Spastic ataxiaEnrichmentDNMT10.15
395Familial isolated dilated cardiomyopathyEnrichmentTAF1A0.15
396Rare genetic deafnessEnrichmentPOLR2F0.07
397Leber plus diseaseEnrichmentZNF4540.05
398Hereditary retinal dystrophyEnrichmentZNF4540.00
399Fundus dystrophyEnrichmentZNF4540.00

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