RNA Polymerase I Promoter Opening

Pathway network for the RNA Polymerase I Promoter Opening SuperPath

Sources:
  • Reactome
  • WikiPathways

Pathways in the RNA Polymerase I Promoter Opening SuperPath

#NameSourceGenes
1RNA Polymerase I Promoter OpeningReactome
2Activation of HOX genes during differentiationReactome
3Activation of anterior HOX genes in hindbrain development during early embryogenesisReactome
4Maternal to zygotic transition (MZT)Reactome
5RNA Polymerase I TranscriptionReactome
6RNA Polymerase I Promoter ClearanceReactome
7Amyloid fiber formationReactome
8Negative epigenetic regulation of rRNA expressionReactome
9NoRC negatively regulates rRNA expressionReactome
10Positive epigenetic regulation of rRNA expressionReactome
11Diseases of programmed cell deathReactome
12Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs)Reactome
13HDACs deacetylate histonesReactome
14RUNX1 regulates genes involved in megakaryocyte differentiation and platelet functionReactome
15RHO GTPases activate PKNsReactome
16RNA Polymerase I Promoter EscapeReactome
17Formation of the beta-catenin:TCF transactivating complexReactome
18B-WICH complex positively regulates rRNA expressionReactome
19Transcriptional regulation of granulopoiesisReactome
20RMTs methylate histone argininesReactome
21ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expressionReactome
22Condensation of Prophase ChromosomesReactome
23Defective pyroptosisReactome
24PRC2 methylates histones and DNAReactome
25Chromatin modifications during the maternal to zygotic transition (MZT)Reactome
26Regulation of endogenous retroelements by the Human Silencing Hub (HUSH) complexReactome
27Assembly of the ORC complex at the origin of replicationReactome
28SIRT1 negatively regulates rRNA expressionReactome
29Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3Reactome
30DNA methylationReactome
31HDMs demethylate histonesReactome
32Effect of progerin on genes involved in Hutchinson-Gilford progeria syndromeWikiPathways
33Zygotic genome activation (ZGA)Reactome
34Z-decay: degradation of maternal mRNAs by zygotically expressed factorsReactome
35Binding of TCF/LEF:CTNNB1 to target gene promotersReactome

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

Disorders associated with RNA Polymerase I Promoter Opening SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Breast cancerDirect
2Colon adenocarcinomaDirect
3Gastric adenocarcinomaDirect
4Squamous cell carcinoma, head and neckDirect
5Lung cancer susceptibility 3Direct
6MelanomaDirect
7Coffin-siris syndrome 1EnrichmentARID1A, ARID1B, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE110.82
8Amyloidosis, hereditary systemic 2EnrichmentAPOA1, B2M, FGA, LYZ7.71
9Tessadori-bicknell-van haaften neurodevelopmental syndrome 4EnrichmentH2BC12, H4C1, H4C97.04
10Glioma susceptibility 1EnrichmentH3-3A, H3C1, TP535.98
11Bryant-li-bhoj neurodevelopmental syndrome 2EnrichmentH3-3A, H3-3B5.14
12Treacher collins syndrome 1EnrichmentPOLR1B, POLR1C, POLR1D5.01
13Tessadori-bicknell-van haaften neurodevelopmental syndrome 1EnrichmentH4C1, H4C34.88
14Tessadori-bicknell-van haaften neurodevelopmental syndrome 2EnrichmentH4C1, H4C114.88
15Meier-gorlin syndrome 1EnrichmentORC1, ORC4, ORC64.85
16Myeloma, multipleEnrichmentCCND1, DNMT3A, H2AC16, H2AC17, H3C14.78
17Osteogenic sarcomaEnrichmentRB1, TP534.66
18Squamous cell carcinomaEnrichmentRB1, TP534.66
19Bone osteosarcomaEnrichmentRB1, TP534.66
20Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3004.66
21Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3004.66
22TrichothiodystrophyEnrichmentERCC2, ERCC3, GTF2H54.64
23Complex neurodevelopmental disorderEnrichmentAGO1, H4C3, H4C5, H4C9, KMT2B, SETD1A, TNRC6B4.62
24Rhabdoid tumor predisposition syndromeEnrichmentSMARCA4, SMARCB14.49
25Tessadori-bicknell-van haaften neurodevelopmental syndrome 3EnrichmentH4C1, H4C54.40
26Small cell cancer of the lungEnrichmentRB1, TP534.36
27Hyperparathyroidism 1EnrichmentCDC73, MEN14.36
28Witteveen-kolk syndromeEnrichmentSIN3A, SIN3B4.32
29Charge syndromeEnrichmentEP300, KDM6A, KMT2D4.24
30Cerebral amyloid angiopathy, cst3-relatedEnrichmentAPP, CST34.19
31Acute promyelocytic leukemiaEnrichmentPML, RARA, STAT34.13
32Weaver syndromeEnrichmentEZH2, SUZ124.08
33Parathyroid adenomaEnrichmentCDC73, MEN13.89
34Familial isolated hyperparathyroidismEnrichmentCDC73, MEN13.89
35Leukemia, acute myeloidEnrichmentCEBPA, GATA2, KMT2A, RUNX13.88
36Rare genetic intellectual disabilityEnrichmentCREBBP, EP3003.81
37Nicolaides-baraitser syndromeEnrichmentARID1B, SMARCA23.71
38BlepharophimosisEnrichmentARID1B, SMARCA23.71
39Smarca2-related nicolaides-baraitser syndromeEnrichmentARID1B, SMARCA23.71
40Diffuse large b-cell lymphomaEnrichmentCREBBP, TP533.60
41Myeloproliferative neoplasmEnrichmentDNMT3A, JAK23.49
42Immunodeficiency-centromeric instability-facial anomalies syndromeEnrichmentDNMT3B, UHRF13.49
43ThrombocytopeniaEnrichmentGATA1, GP1BA, ITGA2B, RUNX13.48
44Complex hereditary spastic paraplegiaEnrichmentPRKN, SORL13.42
45Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentCEBPA, RUNX13.38
46Xeroderma pigmentosum-cockayne syndrome complexEnrichmentERCC2, ERCC33.37
47Precursor t-cell acute lymphoblastic leukemiaEnrichmentMYB, MYC, TAL13.36
48Embryonal rhabdomyosarcomaEnrichmentDICER1, TP533.34
49Acute megakaryocytic leukemiaEnrichmentGATA1, KMT2A3.33
50Lip and oral cavity carcinomaEnrichmentRB1, TP533.33
51Microtia-anotiaEnrichmentHOXA2, KMT2D3.32
52Endometrial stromal sarcomaEnrichmentSUZ12, YWHAE3.27
53Oligodontia-colorectal cancer syndromeEnrichmentAXIN23.23
54Ectodermal dysplasia 17 with or without limb malformationsEnrichmentLEF13.23
55Adenoid ameloblastomaEnrichmentCTNNB13.23
56Microcystic stromal tumorEnrichmentCTNNB13.23
57Adrenocortical carcinomaEnrichmentCTNNB1, TERT3.19
58Kabuki syndrome 1EnrichmentKMT2A, KMT2D3.15
59Fetomaternal alloimmune thrombocytopenia 1EnrichmentGP1BA, ITGA2B3.15
60Li-fraumeni syndromeEnrichmentCDKN2A, TP533.09
61Robin sequence with cleft mandible and limb anomaliesEnrichmentEIF4A33.05
62Parkinson disease 18, autosomal dominantEnrichmentEIF4G13.05
63Perlman syndromeEnrichmentDIS3L23.05
64Autism 19EnrichmentEIF4E3.05
65Neurodevelopmental disorder with hypotonia and speech delay, with or without seizuresEnrichmentEIF4A23.05
66Multiple endocrine neoplasia, type iEnrichmentCDC73, MEN13.05
67Cerebrooculofacioskeletal syndrome 1EnrichmentERCC2, ERCC63.03
68Colorectal cancerEnrichmentAXIN2, CTNNB12.95
69B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentCDKN2A, TP532.95
70Ectrodactyly and ectodermal dysplasia without cleft lip/palateEnrichmentLEF12.93
71Burkitt lymphomaEnrichmentMYC2.93
72Osteopathia striata with cranial sclerosisEnrichmentCTNNB12.93
73Childhood hepatocellular carcinomaEnrichmentCTNNB12.93
74Split hand-foot malformationEnrichmentLEF12.93
75Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB12.93
76TeratomaEnrichmentCTNNB12.93
77Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual developmentEnrichmentYAP12.90
78Bone marrow failure syndrome 5EnrichmentTP532.90
79Papilloma of choroid plexusEnrichmentTP532.90
80Basal cell carcinoma 7EnrichmentTP532.90
81Anaplastic thyroid carcinomaEnrichmentTP532.90
82Uveal coloboma-cleft lip and palate-intellectual disabilityEnrichmentYAP12.90
83Ductal carcinoma in situEnrichmentTP532.90
84Menke-hennekam syndrome 1EnrichmentCREBBP2.90
85Thyroid gland undifferentiated carcinomaEnrichmentTP532.90
86Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP532.90
87Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP2.90
88Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP532.90
89Choroid plexus cancerEnrichmentTP532.90
90Menke-hennekam syndromeEnrichmentCREBBP2.90
91Pleomorphic xanthoastrocytomaEnrichmentTP532.90
92Early-onset autosomal dominant alzheimer diseaseEnrichmentAPP, SORL12.88
93Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentCSF3R, RUNX12.83
94Ovarian cancerEnrichmentAXIN2, CTNNB12.83
95Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentSETD1A, TNRC6B2.78
96Meningioma, familialEnrichmentSMARCB1, SMARCE12.76
97Atrial heart septal defectEnrichmentACTL6A, SMARCA42.76
98Interatrial communicationEnrichmentACTL6A, SMARCA42.76
99Desmoid disease, hereditaryEnrichmentCTNNB12.75
100Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB12.75
101Anus, imperforateEnrichmentCTNNB12.75
102Exudative vitreoretinopathy 7EnrichmentCTNNB12.75
103Desmoid tumorEnrichmentCTNNB12.75
104High-grade b-cell lymphoma double-hit/triple-hitEnrichmentMYC2.75
105Adult hepatocellular carcinomaEnrichmentCASP8, TP532.72
106Autosomal dominant macrothrombocytopeniaEnrichmentGP1BA, ITGA2B2.69
107MeningiomaEnrichmentSMARCB1, SMARCE12.68
108Xeroderma pigmentosum, variant typeEnrichmentERCC2, ERCC32.64
109PilomatrixomaEnrichmentCTNNB12.63
110Alazami syndromeEnrichmentCTNNB12.63
111CraniopharyngiomaEnrichmentCTNNB12.63
112Adrenocortical carcinoma, hereditaryEnrichmentTP532.60
113Thumb deformityEnrichmentCREBBP2.60
114Cervical cancerEnrichmentTP532.60
115Lymphoma, hodgkin, classicEnrichmentTP532.60
116Menke-hennekam syndrome 2EnrichmentEP3002.60
117Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP2.60
118Congenital fibrosarcomaEnrichmentTP532.60
119Li-fraumeni syndrome 1EnrichmentTP532.60
120SarcomaEnrichmentTP532.60
121Cervix carcinomaEnrichmentTP532.60
122Hodgkin's lymphomaEnrichmentTP532.60
123Pleomorphic rhabdomyosarcomaEnrichmentTP532.60
124Oculopharyngeal muscular dystrophy 1EnrichmentPABPN12.58
125Spermatogenic failure, x-linked, 9EnrichmentRBBP72.56
126Mucoepithelial dysplasia, hereditaryEnrichmentSREBF12.56
127Ifap syndrome 2EnrichmentSREBF12.56
128Cleft palate, psychomotor retardation, and distinctive facial featuresEnrichmentKDM1A2.56
129Muscular dystrophy, congenital, with cataracts and impaired intellectual developmentEnrichmentINPP5K2.56
130Bryant-li-bhoj neurodevelopmental syndrome 1EnrichmentH3-3A2.56
131Trilateral retinoblastomaEnrichmentRB12.56
132Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeEnrichmentKDM1A2.56
133Acth-independent macronodular adrenal hyperplasia 3EnrichmentKDM1A2.56
134Lung oat cell carcinomaEnrichmentRB12.56
135Bladder cancerEnrichmentRB1, TP532.55
136Exudative vitreoretinopathy 1EnrichmentCTNNB12.53
137Weyers acrofacial dysostosisEnrichmentCTNNB12.45
138Split-hand/foot malformation 1EnrichmentLEF12.45
139Autism spectrum disorderEnrichmentACTL6B, ARID1B, DNMT3A, SMARCB12.45
140Intellectual developmental disorder, x-linked, syndromic, siderius typeEnrichmentPHF82.43
141Kabuki syndrome 2EnrichmentKDM6A2.43
142Syndromic x-linked intellectual disability siderius typeEnrichmentPHF82.43
143Intellectual developmental disorder, autosomal recessive 65EnrichmentKDM5B2.43
144Rare genetic epilepsyEnrichmentKDM3B2.43
145Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentARID1A, ARID1B2.43
146Nasopharyngeal carcinomaEnrichmentTP532.43
147Tethered spinal cord syndromeEnrichmentCREBBP2.43
148Atypical teratoid rhabdoid tumorEnrichmentTP532.43
149Anaplastic astrocytomaEnrichmentTP532.43
150AdenocarcinomaEnrichmentTP532.43
151Intraocular pressure quantitative trait locusEnrichmentCREBBP2.43
152Early-onset parkinson's diseaseEnrichmentPRKN, SNCA2.40
153Gallbladder cancerEnrichmentCTNNB12.38
154Exudative vitreoretinopathyEnrichmentCTNNB12.33
155Alzheimer's diseaseEnrichmentAPOE, APP2.33
156Heyn-sproul-jackson syndromeEnrichmentDNMT3A2.33
157Prostate cancer, hereditary, x-linked 3EnrichmentAR2.31
158Androgen insensitivity, partialEnrichmentAR2.31
159Complete androgen insensitivity syndromeEnrichmentAR2.31
160Thyroid cancer, nonmedullary, 1EnrichmentTP532.30
161Lung sarcomatoid carcinomaEnrichmentTP532.30
162Malignant epithelioid hemangioendotheliomaEnrichmentYAP12.30
163Meier-gorlin syndrome 3EnrichmentORC62.30
164Meier-gorlin syndrome 2EnrichmentORC42.30
165Intellectual developmental disorder, autosomal recessive 44EnrichmentMETTL232.29
166Tet3-related beck-fahrner syndromeEnrichmentTET32.29
167Beck-fahrner syndromeEnrichmentTET32.29
168Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathyEnrichmentMORC22.29
169Charcot-marie-tooth disease, axonal, type 2zEnrichmentMORC22.29
170Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 5EnrichmentZCCHC82.29
171Tooth agenesis, selective, 1EnrichmentAXIN22.28
172Wilms tumor 5EnrichmentDIS3L22.28
173Imagawa-matsumoto syndromeEnrichmentSUZ122.28
174Developmental delay with variable intellectual disability and dysmorphic faciesEnrichmentJARID22.28
175Cohen-gibson syndromeEnrichmentEED2.28
176Khan-khan-katsanis syndromeEnrichmentNCAPG22.27
177Microcephaly 22, primary, autosomal recessiveEnrichmentNCAPD32.27
178Sifrim-hitz-weiss syndromeEnrichmentCHD42.26
179Chromosome 13q14 deletion syndromeEnrichmentRB12.26
180Snijders blok-campeau syndromeEnrichmentCHD32.26
181Familial retinoblastomaEnrichmentRB12.26
182Gand syndromeEnrichmentGATAD2B2.26
183Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeEnrichmentGATAD2B2.26
184Polycystic liver diseaseEnrichmentCTNNB1, RUVBL12.26
185Autosomal dominant polycystic liver diseaseEnrichmentCTNNB1, RUVBL12.26
186TorticollisEnrichmentACTL6A2.24
187Melanoma, cutaneous malignant 3EnrichmentCDK42.24
188Acanthosis nigricansEnrichmentPRMT72.24
189Coffin-siris syndrome 5EnrichmentSMARCE12.24
190Intellectual developmental disorder with severe speech and ambulation defectsEnrichmentACTL6B2.24
191Coffin-siris syndrome 11EnrichmentSMARCD12.24
192Hydrocephalus, congenital, 5EnrichmentSMARCC12.24
193Rhabdoid tumor predisposition syndrome 1EnrichmentSMARCB12.24
194NeurilemmomaEnrichmentSMARCB12.24
195Coffin-siris syndrome 3EnrichmentSMARCB12.24
196Smarca4-deficient sarcoma of thoraxEnrichmentSMARCA42.24
197Arid1b-related disorderEnrichmentARID1B2.24
198Ovarian small cell carcinomaEnrichmentSMARCA42.24
199Short stature, brachydactyly, impaired intellectual development, and seizuresEnrichmentPRMT72.24
200Blepharophimosis-impaired intellectual development syndromeEnrichmentSMARCA22.24
201Facial cleftEnrichmentSMARCE12.24
202Autosomal recessive severe congenital neutropeniaEnrichmentSMARCD22.24
203Microphthalmia/coloboma 12EnrichmentPAX6, RARB2.23
204GliosarcomaEnrichmentDNMT3A, TP532.21
205Rhabdomyosarcoma 2EnrichmentTP532.20
206Rubinstein-taybi syndrome 2EnrichmentEP3002.20
207LymphomaEnrichmentTP532.20
208Immunodeficiency 108 with autoinflammationEnrichmentCEBPE2.18
209Bleeding disorder, platelet-type, 21EnrichmentFLI12.18
210Agammaglobulinemia 10, autosomal dominantEnrichmentSPI12.18
211Lymphedema, primary, with myelodysplasiaEnrichmentGATA22.18
212T-cell large granular lymphocyte leukemiaEnrichmentSTAT32.18
213Interleukin 6, serum level of, quantitative trait locusEnrichmentIL6R2.18
214Immunodeficiency 21EnrichmentGATA22.18
215Soluble interleukin-6 receptor, serum level of, quantitative trait locusEnrichmentIL6R2.18
216Hyper-ige syndrome 5, autosomal recessive, with recurrent infectionsEnrichmentIL6R2.18
217Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT32.18
218Deafness-lymphedema-leukemia syndromeEnrichmentGATA22.18
219Acute myeloid leukemia with mll rearrangementEnrichmentKMT2A2.18
220Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT32.18
221AgammaglobulinemiaEnrichmentSPI12.18
222Isolated delta-storage pool diseaseEnrichmentFLI12.18
223Cebpe-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndromeEnrichmentCEBPE2.18
224Chronic neutrophilic leukemiaEnrichmentCSF3R2.18
225Acute myeloid leukemia with mutated cebpaEnrichmentCEBPA2.18
226Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT32.18
227Xeroderma pigmentosum, complementation group bEnrichmentERCC32.18
228Leukodystrophy, hypomyelinating, 27EnrichmentPOLR1A2.18
229Treacher collins syndrome 4EnrichmentPOLR1B2.18
230Xeroderma pigmentosum, complementation group dEnrichmentERCC22.18
231Trichothiodystrophy 2, photosensitiveEnrichmentERCC32.18
232Xeroderma pigmentosum group bEnrichmentERCC32.18
233Treacher collins syndrome 2EnrichmentPOLR1D2.18
234Cerebrooculofacioskeletal syndrome 2EnrichmentERCC22.18
235Trichothiodystrophy 3, photosensitiveEnrichmentGTF2H52.18
236Xeroderma pigmentosum group dEnrichmentERCC22.18
237Branchial cleft anomaliesEnrichmentKMT2D2.18
238Parathyroid carcinomaEnrichmentCDC732.18
239Hyperparathyroidism 2 with jaw tumorsEnrichmentCDC732.18
240Adrenal cortical adenomaEnrichmentMEN12.18
241Cdc73-related disordersEnrichmentCDC732.18
242Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndromeEnrichmentKMT2D2.18
243Deafness, autosomal dominant 75EnrichmentTRRAP2.18
244Developmental delay with or without dysmorphic facies and autismEnrichmentTRRAP2.18
245Autosomal recessive dyskeratosis congenita 4EnrichmentTERT2.18
246Adrenal adenomaEnrichmentMEN12.18
247Baraitser-winter syndrome 1EnrichmentACTB2.18
248Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB2.18
249Becker nevus syndromeEnrichmentACTB2.18
250Dystonia-deafness syndrome 1EnrichmentACTB2.18
251Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB2.18
252Baraitser-winter syndromeEnrichmentACTB2.18
253Congenital smooth muscle hamartomaEnrichmentACTB2.18
254Developmental malformations-deafness-dystonia syndromeEnrichmentACTB2.18
255Deafness, autosomal dominant 17EnrichmentMYH92.16
256Deafness, autosomal dominant 4aEnrichmentMYH142.16
257Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK12.16
258Peripheral neuropathy, myopathy, hoarseness, and hearing lossEnrichmentMYH142.16
259Developmental and epileptic encephalopathy 56EnrichmentYWHAG2.16
260Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA2.16
261Noonan syndrome-like disorder with loose anagen hair 2EnrichmentPPP1CB2.16
262Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA2.16
263Autosomal dominant nonsyndromic hearing loss 17EnrichmentMYH92.16
264Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC12.16
265Distal 17p13.3 microdeletion syndromeEnrichmentYWHAE2.16
266Hypothyroidism, congenital, nongoitrous, 8EnrichmentTBL1X2.16
267Wilms tumor 6EnrichmentREST2.16
268Cornelia de lange syndrome 5EnrichmentHDAC82.16
269Deafness, autosomal dominant 27EnrichmentREST2.16
270Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizuresEnrichmentPHF21A2.16
271Fibromatosis, gingival, 5EnrichmentREST2.16
272Bernard-soulier syndrome, type a2, autosomal dominantEnrichmentGP1BA2.16
273Anemia, congenital, nonspherocytic hemolytic, 9EnrichmentGATA12.16
274Thrombocytopenia, x-linked, with or without dyserythropoietic anemiaEnrichmentGATA12.16
275Nonarteritic anterior ischemic optic neuropathyEnrichmentGP1BA2.16
276Thrombocytopenia with beta-thalassemia, x-linkedEnrichmentGATA12.16
277Von willebrand disease, platelet-typeEnrichmentGP1BA2.16
278Global developmental delay with speech and behavioral abnormalitiesEnrichmentTNRC6B2.16
279Neurodevelopmental disorder with speech impairment and dysmorphic faciesEnrichmentSETD1A2.16
280Fetomaternal alloimmune thrombocytopenia 2EnrichmentITGA2B2.16
281Anemia, x-linked, with or without neutropenia and/or platelet abnormalitiesEnrichmentGATA12.16
282Epilepsy, early-onset, 2, with or without developmental delayEnrichmentSETD1A2.16
283Intellectual developmental disorder with seizures and language delayEnrichmentSETD1B2.16
284Kleefstra syndrome 2EnrichmentKMT2C2.16
285Epilepsy, familial adult myoclonic, 6EnrichmentTNRC6A2.16
286Intellectual developmental disorder, autosomal dominant 68EnrichmentKMT2B2.16
287Generalized isolated dystoniaEnrichmentKMT2B2.16
288Acute megakaryoblastic leukemia in children with down syndromeEnrichmentGATA12.16
289Kmt2b-related disordersEnrichmentKMT2B2.16
290Bernard-soulier syndrome type a2EnrichmentGP1BA2.16
291Thrombocytopenia with congenital dyserythropoietic anemiaEnrichmentGATA12.16
292Chromosome 15q24 deletion syndromeEnrichmentSIN3A2.16
293Giant cell glioblastomaEnrichmentDNMT3A, TP532.16
294Inherited cancer-predisposing syndromeEnrichmentCDK4, SMARCA4, SMARCB1, SMARCE12.15
295Coffin-siris syndrome 7EnrichmentDPF22.15
296Intellectual developmental disorder, autosomal dominant 65EnrichmentKDM4B2.13
297Diets-jongmans syndromeEnrichmentKDM3B2.13
298El hayek-chahrour neurodevelopmental syndromeEnrichmentKDM5A2.13
299Stolerman neurodevelopmental syndromeEnrichmentKDM6B2.13
300Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typicalEnrichmentLMNB12.13
301Van esch-o'driscoll syndromeEnrichmentPOLA12.13
302Caspase 8 deficiencyEnrichmentCASP82.13
303Microvascular complications of diabetes 6EnrichmentSOD22.13
304Lissencephaly 7 with cerebellar hypoplasiaEnrichmentCDK52.13
305Pigmentary disorder, reticulate, with systemic manifestations, x-linkedEnrichmentPOLA12.13
306Combined oxidative phosphorylation deficiency 33EnrichmentC1QBP2.13
307Pulmonary hypertension, primary, 6EnrichmentCAPNS12.13
308Adult onset demyelinating leukodystrophyEnrichmentLMNB12.13
309Deafness, autosomal dominant 5EnrichmentGSDME2.13
310Cerebral amyloid angiopathy, app-relatedEnrichmentAPP2.13
311Developmental delay with hypotonia, myopathy, and brain abnormalitiesEnrichmentGOLGA22.13
312Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunctionEnrichmentFADD2.13
313Microcephaly 26, primary, autosomal dominantEnrichmentLMNB12.13
314Atypical werner syndromeEnrichmentLMNA2.13
315Autoinflammation with episodic fever and lymphadenopathyEnrichmentRIPK12.13
316Cdkn2a cancer predispositionEnrichmentCDKN2A2.13
317Mandibuloacral dysplasiaEnrichmentLMNA2.13
318Atrioventricular blockEnrichmentLMNA2.13
319Lmna-related cardiocutaneous progeria syndromeEnrichmentLMNA2.13
320Autosomal semi-dominant severe lipodystrophic laminopathyEnrichmentLMNA2.13
321Autosomal recessive axonal hereditary motor and sensory neuropathyEnrichmentLMNA2.13
322LaminopathyEnrichmentLMNA2.13
323Facioscapulohumeral muscular dystrophy 1EnrichmentDUX42.13
324Breast adenocarcinomaEnrichmentTP532.13
325HypertrichosisEnrichmentCREBBP2.13
326Neuromuscular diseaseEnrichmentGOLGA2, LMNA2.11
327Coloboma of maculaEnrichmentPAX6, RARB2.11
328Carpal tunnel syndrome 1EnrichmentTTR2.09
329Corneal dystrophy, epithelial basement membraneEnrichmentTGFBI2.09
330Hyperthyroxinemia, dystransthyretinemicEnrichmentTTR2.09
331Corneal dystrophy, groenouw type iEnrichmentTGFBI2.09
332Cerebral amyloid angiopathy, itm2b-related, 1EnrichmentITM2B2.09
333Parkinson disease 1, autosomal dominantEnrichmentSNCA2.09
334Sea-blue histiocyte diseaseEnrichmentAPOE2.09
335Intellectual developmental disorder, x-linked 99EnrichmentUSP9X2.09
336Corneal dystrophy, avellino typeEnrichmentTGFBI2.09
337Macular degeneration, age-related, 11EnrichmentCST32.09
338Cerebral amyloid angiopathy, itm2b-related, 2EnrichmentITM2B2.09
339Acne inversa, familial, 1EnrichmentNCSTN2.09
340Lipoprotein glomerulopathyEnrichmentAPOE2.09
341Amyloidosis, hereditary systemic 1EnrichmentTTR2.09
342Corneal dystrophy, lattice type iEnrichmentTGFBI2.09
343Parkinson disease 4, autosomal dominantEnrichmentSNCA2.09
344Leprosy 2EnrichmentPRKN2.09
345Immunodeficiency 43EnrichmentB2M2.09
346Corneal dystrophy, thiel-behnke typeEnrichmentTGFBI2.09
347Tubulointerstitial kidney disease, autosomal dominant 6EnrichmentAPOA42.09
348Intellectual developmental disorder, x-linked 99, syndromic, female-restrictedEnrichmentUSP9X2.09
349Epithelial-stromal tgfbi dystrophyEnrichmentTGFBI2.09
350Dialysis-related amyloidosisEnrichmentB2M2.09
351Alzheimer disease 18EnrichmentADAM102.09
352Corneal dystrophy, lattice type iiiaEnrichmentTGFBI2.09
353Corneal dystrophy, reis-bucklers typeEnrichmentTGFBI2.09
354Granular corneal dystrophyEnrichmentTGFBI2.09
355Reticulate acropigmentation of kitamuraEnrichmentADAM102.09
356Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalitiesEnrichmentITM2B2.09
357Immunoglobulin light chain amyloidosisEnrichmentLYZ2.09
358Acne inversa, familial, 2, with or without dowling-degos diseaseEnrichmentPSENEN2.09
359Amyloidosis, hereditary systemic 5EnrichmentLYZ2.09
360Serum amyloid a amyloidosisEnrichmentSAA12.09
361Amyloidosis, hereditary systemic 6EnrichmentB2M2.09
362Epithelial basement membrane dystrophyEnrichmentTGFBI2.09
363AmyloidosisEnrichmentTTR2.09
364Female-restricted syndromic x-linked intellectual disability 99EnrichmentUSP9X2.09
365Leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathyEnrichmentCST32.09
366Hereditary amyloidosisEnrichmentTTR2.09
367Pash syndromeEnrichmentNCSTN2.09
368Attrv30m amyloidosisEnrichmentTTR2.09
369Retinal dystrophy with inner retinal dysfunction and ganglion cell anomaliesEnrichmentITM2B2.09
370Attrv122i amyloidosisEnrichmentTTR2.09
371Alzheimer disease, familial, 1EnrichmentAPOE, APP2.09
372RetinoblastomaEnrichmentRB12.09
373Ifap syndrome 1, with or without bresheck syndromeEnrichmentSREBF12.09
374Woolly hair, autosomal recessive 3EnrichmentRB12.09
375Hypotrichosis 8EnrichmentRB12.09
376Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentKDM1A2.09
377Lipodystrophy, congenital generalized, type 4EnrichmentCAVIN12.09
378MedulloblastomaEnrichmentCTNNB12.08
379HepatoblastomaEnrichmentCTNNB1, TERT2.07
380RhabdomyosarcomaEnrichmentDICER1, TP532.07
381Esophageal cancerEnrichmentTP532.06
382Essential thrombocythemiaEnrichmentTP532.06
383Rhabdomyosarcoma, embryonal, 2EnrichmentDICER12.05
384Holoprosencephaly 12 with or without pancreatic agenesisEnrichmentCNOT12.05
385Oocyte/zygote/embryo maturation arrest 13EnrichmentZFP36L22.05
386Dicer1 syndromeEnrichmentDICER12.05
387Pleuropulmonary blastomaEnrichmentDICER12.05
388Global developmental delay, lung cysts, overgrowth, and wilms tumorEnrichmentDICER12.05
389Vissers-bodmer syndromeEnrichmentCNOT12.05
390Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomaliesEnrichmentCNOT22.05
391Oocyte/zygote/embryo maturation arrest 8EnrichmentBTG42.05
392Malignant sertoli-leydig cell tumor of ovaryEnrichmentDICER12.05
393Supratentorial primitive neuroectodermal tumorEnrichmentDICER12.05
394GynandroblastomaEnrichmentDICER12.05
395Dicer1 tumor predispositionEnrichmentDICER12.05
396Female infertility due to an implantation defect of genetic originEnrichmentZFP36L22.05
397Pancreatic agenesis-holoprosencephaly syndromeEnrichmentCNOT12.05
398Multicentric carpotarsal osteolysis syndromeEnrichmentMAFB2.05
399Charcot-marie-tooth disease, demyelinating, type 1dEnrichmentEGR22.05
400Microtia, hearing impairment, and cleft palateEnrichmentHOXA22.05
401Facial paresis, hereditary congenital, 3EnrichmentHOXB12.05
402Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayEnrichmentPBX12.05
403Athabaskan brainstem dysgenesis syndromeEnrichmentHOXA12.05
404Microcephaly 10, primary, autosomal recessiveEnrichmentZNF3352.05
405Microphthalmia, syndromic 12EnrichmentRARB2.05
406Ctcf-related disorderEnrichmentCTCF2.05
407Duane retraction syndrome 3 with or without deafnessEnrichmentMAFB2.05
408Turnpenny-fry syndromeEnrichmentPCGF22.05
409Microcephalic primordial dwarfism due to znf335 deficiencyEnrichmentZNF3352.05
410Congenital hereditary facial paralysis-variable hearing loss syndromeEnrichmentHOXB12.05
411Charcot-marie-tooth disease type 1dEnrichmentEGR22.05
412Duane retraction syndrome 3EnrichmentMAFB2.05
413Duane retraction syndrome with congenital deafnessEnrichmentMAFB2.05
414Bosley-salih-alorainy syndromeEnrichmentHOXA12.05
415Hepatocellular carcinomaEnrichmentCTNNB1, TERT2.04
416Immunodeficiency-centromeric instability-facial anomalies syndrome 1EnrichmentDNMT3B2.03
417Facioscapulohumeral muscular dystrophy 4, digenicEnrichmentDNMT3B2.03
418Cerebellar ataxia, deafness, and narcolepsy, autosomal dominantEnrichmentDNMT12.03
419Tatton-brown-rahman syndromeEnrichmentDNMT3A2.03
420Spinal and bulbar muscular atrophy, x-linked 1EnrichmentAR2.01
42146,xy sex reversal 1EnrichmentAR2.01
422Androgen insensitivity syndromeEnrichmentAR2.01
423Hypospadias 1, x-linkedEnrichmentAR2.01
424Posterior hypospadiasEnrichmentAR2.01
425Spinocerebellar ataxia 17EnrichmentTBP2.01
426Lymphoma, non-hodgkin, familialEnrichmentTP532.00
427Immunodeficiency with hyper-igm, type 2EnrichmentAICDA1.99
428Immunodeficiency with hyper-igm, type 5EnrichmentUNG1.99
429Kleefstra syndromeEnrichmentEHMT11.99
430Kleefstra syndrome due to a point mutationEnrichmentEHMT11.99
431Myopia 6EnrichmentNCAPH21.97
432Lymphatic malformation 10EnrichmentMCPH11.97
433Intellectual developmental disorder, autosomal dominant 58EnrichmentSET1.97
434Lynch syndrome 4EnrichmentRB11.96
435Intellectual developmental disorder, x-linked, syndromic, claes-jensen typeEnrichmentKDM5C1.96
436Syndromic x-linked intellectual disability claes-jensen typeEnrichmentKDM5C1.96
437Cockayne syndrome type 3EnrichmentERCC61.96
438Primary hyperaldosteronismEnrichmentTP531.95
439Alopecia, androgenetic, 1EnrichmentSMARCD11.94
440TrichomegalyEnrichmentARID1B1.94
441Specific granule deficiency 1EnrichmentSMARCD21.94
442Rhabdoid tumor predisposition syndrome 2EnrichmentSMARCA41.94
443Schwannomatosis 1EnrichmentSMARCB11.94
444Chromosome 6q24-q25 deletion syndromeEnrichmentARID1B1.94
445Thrombocythemia 3EnrichmentJAK21.94
446Severe combined immunodeficiency with sensitivity to ionizing radiationEnrichmentARID1B1.94
447Coffin-siris syndrome 6EnrichmentARID21.94
448Epilepsy, progressive myoclonic, 12EnrichmentPRMT71.94
449Specific granule deficiency 2EnrichmentSMARCD21.94
450Coffin-siris syndrome 8EnrichmentSMARCC21.94
451Otosclerosis 12EnrichmentSMARCA41.94
452Coffin-siris syndrome 4EnrichmentSMARCA41.94
453PolycythemiaEnrichmentJAK21.94
454Blepharophimosis - intellectual disability syndromeEnrichmentSMARCA21.94
455Developmental and epileptic encephalopathy 76EnrichmentACTL6B1.94
456Hypereosinophilic syndromeEnrichmentJAK21.94
457Specific granule deficiencyEnrichmentSMARCD21.94
458AutismEnrichmentCREBBP, KMT2D, TCF7L21.92
459Leukemia, chronic lymphocyticEnrichmentTP531.90
460Familial colorectal cancerEnrichmentTP531.90
461Primary autosomal recessive microcephalyEnrichmentMCPH1, NCAPD31.89
462Tooth agenesisEnrichmentAXIN21.89
463Storage pool platelet diseaseEnrichmentRUNX11.88
464Thrombocytopenia, paris-trousseau typeEnrichmentFLI11.88
465Histiocytoma, angiomatoid fibrousEnrichmentCREB11.88
466Neutropenia, nonimmune chronic idiopathic, of adultsEnrichmentGFI11.88
467Neutrophilia, hereditaryEnrichmentCSF3R1.88
468Neutropenia, severe congenital, 2, autosomal dominantEnrichmentGFI11.88
469Neutropenia, severe congenital, 7, autosomal recessiveEnrichmentCSF3R1.88
470Cardiomyopathy, dilated, 1ffEnrichmentKLF51.88
471Acute basophilic leukemiaEnrichmentMYB1.88
472Cleidocranial dysplasia 2EnrichmentCBFB1.88
473Severe congenital neutropenia 7EnrichmentCSF3R1.88
474Angiocentric gliomaEnrichmentMYB1.88
475Acute myeloid leukemia with t(6;9) (p23;q34.1)EnrichmentDEK1.88
476Acute myeloid leukemia with t(9;11)(p22;q23)EnrichmentKMT2A1.88
477Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)EnrichmentKMT2A1.88
478B-lymphoblastic leukemia/lymphoma with tEnrichmentKMT2A1.88
479Tafro syndromeEnrichmentRUNX11.88
480Wilms tumor 1EnrichmentDIS3L21.88
481Treacher collins syndrome 3EnrichmentPOLR1C1.88
482Waardenburg syndrome, type 4cEnrichmentPOLR2F1.88
483Leukoencephalopathy, progressive, with ovarian failureEnrichmentPOLR1C1.88
484Leukodystrophy, hypomyelinating, 11EnrichmentPOLR1C1.88
485Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung diseaseEnrichmentPOLR2F1.88
486Acrofacial dysostosis, cincinnati typeEnrichmentPOLR1A1.88
487Complement component c1s deficiencyEnrichmentKMT2D1.88
488Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1EnrichmentTERT1.88
489Choanal atresia, posteriorEnrichmentKMT2D1.88
490Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalitiesEnrichmentKAT51.88
491Immunodeficiency, common variable, 15EnrichmentRUVBL11.88
492Medullary thyroid carcinomaEnrichmentMEN11.88
493Melanoma, cutaneous malignant 9EnrichmentTERT1.88
494InsulinomaEnrichmentMEN11.88
495Idiopathic interstitial pneumoniaEnrichmentTERT1.88
496Null pituitary adenomaEnrichmentMEN11.88
497Silent pituitary adenomaEnrichmentMEN11.88
498GigantismEnrichmentMEN11.88
499Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB1.88
500Neurodegeneration, childhood-onset, with brain atrophyEnrichmentUBTF1.86
501Aortic aneurysm, familial thoracic 4EnrichmentMYH111.86
502Cataract 35EnrichmentMYH91.86
503Megacystis-microcolon-intestinal hypoperistalsis syndrome 2EnrichmentMYH111.86
504Genitourinary and/or brain malformation syndromeEnrichmentPPP1R12A1.86
505Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.86
506Noonan syndrome-like disorder with loose anagen hairEnrichmentPPP1CB1.86
507Pseudosarcomatous fibromatosisEnrichmentMYH91.86
508Visceral myopathy 2EnrichmentMYH111.86
509Megacystis-microcolon-intestinal hypoperistalsis syndrome 4EnrichmentMYL91.86
510Myelodysplastic syndromeEnrichmentTP531.86
511Fibromatosis, gingival, 1EnrichmentREST1.86
512Syndactyly, type iiiEnrichmentHDAC81.86
513Wilson-turner syndromeEnrichmentHDAC81.86
514Myeloproliferative syndrome, transientEnrichmentGATA11.86
515Porphyria, congenital erythropoieticEnrichmentGATA11.86
516Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizuresEnrichmentAGO11.86
517Dystonia 28, childhood-onsetEnrichmentKMT2B1.86
518Neuropathy, hereditary sensory, type ieEnrichmentDNMT11.85
519Pancreatic cancerEnrichmentCDKN2A, TP531.83
520Melanoma-astrocytoma syndromeEnrichmentCDKN2A1.83
521Mandibuloacral dysplasia with type a lipodystrophyEnrichmentLMNA1.83
522Heart-hand syndrome, slovenian typeEnrichmentLMNA1.83
523Charcot-marie-tooth disease, axonal, type 2b1EnrichmentLMNA1.83
524Melanoma, cutaneous malignant 2EnrichmentCDKN2A1.83
525Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle padsEnrichmentCAST1.83
526Cardiomyopathy, dilated, with hypergonadotropic hypogonadismEnrichmentLMNA1.83
527Spastic paraplegia 76, autosomal recessiveEnrichmentCAPN11.83
528Cardiomyopathy, dilated, 1dEnrichmentLMNA1.83
529Restrictive dermopathy 2EnrichmentLMNA1.83
530Emery-dreifuss muscular dystrophy 3, autosomal recessiveEnrichmentLMNA1.83
531Melanoma-pancreatic cancer syndromeEnrichmentCDKN2A1.83
532Lipodystrophy, familial partial, type 1EnrichmentLMNA1.83
533Primordial dwarfism-immunodeficiency-lipodystrophy syndromeEnrichmentPRIM11.83
534Autosomal dominant primary microcephalyEnrichmentLMNB11.83
535Immunodeficiency 57 with autoinflammationEnrichmentRIPK11.83
536Familial partial lipodystrophyEnrichmentLMNA1.83
537Charcot-marie-tooth disease type 2b1EnrichmentLMNA1.83
538Oculootodental syndromeEnrichmentFADD1.83
539Parkinson disease, late-onsetEnrichmentPRKN, SNCA1.80
540Alzheimer disease 3EnrichmentAPOE1.80
541Parkinson disease 12EnrichmentPRKN1.80
542Alzheimer disease 9EnrichmentSORL11.80
543Atrial fibrillation, familial, 6EnrichmentNPPA1.80
544Mononeuropathy of the median nerve, mildEnrichmentTTR1.80
545Maturity-onset diabetes of the young, type 10EnrichmentINS1.80
546Schwartz-jampel syndrome, type 1EnrichmentHSPG21.80
547HyperproinsulinemiaEnrichmentINS1.80
548Nephrotic syndrome, type 17EnrichmentGGA31.80
549Hyperlipoproteinemia, type iiiEnrichmentAPOE1.80
550Parkinson disease 15, autosomal recessive early-onsetEnrichmentSNCA1.80
551Diabetes mellitus, permanent neonatal, 4EnrichmentINS1.80
552Hypoalphalipoproteinemia, primary, 2, intermediateEnrichmentAPOA11.80
553Buratti-harel syndromeEnrichmentSIAH11.80
554Amyloidosis, hereditary systemic 3EnrichmentAPOA11.80
555Isolated atrial standstillEnrichmentNPPA1.80
556Submucosal cleft palateEnrichmentUBB1.80
557Cleft hard palateEnrichmentUBB1.80
558Mitochondrial complex iv deficiency, nuclear type 2EnrichmentNCAPH21.79
559MicrophthalmiaEnrichmentPAX6, RARB1.78
560De sanctis-cacchione syndromeEnrichmentERCC61.78
561Uv-sensitive syndrome 1EnrichmentERCC61.78
562Uv-sensitive syndromeEnrichmentERCC61.78
563Premature ovarian failure 11EnrichmentERCC61.78
564Hirschsprung disease 1EnrichmentAXIN21.77
565Visceral steatosis, congenitalEnrichmentPRMT71.77
566Polycythemia veraEnrichmentJAK21.77
567Nail disorder, nonsyndromic congenital, 9EnrichmentARID1B1.77
568Coffin-siris syndrome 2EnrichmentARID1A1.77
569Umbilical herniaEnrichmentACTL6A1.77
570Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK21.77
571Dedifferentiated liposarcomaEnrichmentCDK41.77
572Periventricular leukomalaciaEnrichmentARID1A1.77
573Desmoplastic/nodular medulloblastomaEnrichmentARID21.77
574SchwannomatosisEnrichmentSMARCB11.77
575Well-differentiated liposarcomaEnrichmentCDK41.77
576Steatotic liver diseaseEnrichmentPRMT71.77
577Heart diseaseEnrichmentCREBBP1.76
578Premature ovarian failure 3EnrichmentAGO21.75
579Goiter, multinodular 1, with or without sertoli-leydig cell tumorsEnrichmentDICER11.75
580Vertebral anomalies and variable endocrine and t-cell dysfunctionEnrichmentDICER11.75
581Alopecia-intellectual disability syndrome 4EnrichmentCNOT11.75
582PineoblastomaEnrichmentDICER11.75
583Malignant granulosa cell tumor of the ovaryEnrichmentDICER11.75
584Keratitis, hereditaryEnrichmentPAX61.75
585Foveal hypoplasia 1EnrichmentPAX61.75
586Duane retraction syndrome 1EnrichmentMAFB1.75
587Neuropathy, congenital hypomyelinating, 1, autosomal recessiveEnrichmentEGR21.75
588Optic nerve hypoplasia, bilateralEnrichmentPAX61.75
589Duane retraction syndrome 2EnrichmentMAFB1.75
590Gabriele-de vries syndromeEnrichmentYY11.75
591Intellectual developmental disorder, autosomal dominant 21EnrichmentCTCF1.75
592Developmental and epileptic encephalopathy 78EnrichmentYY11.75
593B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)EnrichmentPBX11.75
594Renal hypoplasia, bilateralEnrichmentPBX11.75
595Polydactyly, postaxial, type a1EnrichmentEP3001.73
596Corpus callosum, agenesis ofEnrichmentCREBBP1.73
597Isolated corpus callosum agenesisEnrichmentCREBBP1.73
598Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP1.73
599Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentSTAT31.71
600Jacobsen syndromeEnrichmentFLI11.71
601Platelet disorder, familial, with associated myeloid malignancyEnrichmentRUNX11.71
602Hyper ige syndromeEnrichmentSTAT31.71
603Adenoid cystic carcinomaEnrichmentMYB1.71
604Melanoma of soft tissueEnrichmentCREB11.71
605Mixed phenotype acute leukemia with tEnrichmentKMT2A1.71
606Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with runx1EnrichmentRUNX11.71
607Waardenburg syndrome, type 2aEnrichmentPOLR2F1.70
608Trichothiodystrophy 1, photosensitiveEnrichmentERCC21.70
609Burn-mckeown syndromeEnrichmentPOLR1A1.70
610Wieacker-wolff syndromeEnrichmentCCNH1.70
611Pituitary adenoma 1, multiple typesEnrichmentMEN11.70
612Neurodevelopmental disorder with progressive spasticity and brain abnormalitiesEnrichmentRUVBL11.70
613Interstitial lung diseaseEnrichmentTERT1.70
614Cellular ependymomaEnrichmentMEN11.70
615Tanycytic ependymomaEnrichmentMEN11.70
616Macrocytic anemiaEnrichmentTERT1.70
617Papillary ependymomaEnrichmentMEN11.70
618Growth hormone secreting pituitary adenomaEnrichmentMEN11.70
619Aip familial isolated pituitary adenomasEnrichmentMEN11.70
620Clear cell ependymomaEnrichmentMEN11.70
621Myelodysplastic syndrome with ring sideroblastsEnrichmentSF3B11.70
622Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentMYH91.69
623Miller-dieker lissencephaly syndromeEnrichmentYWHAE1.69
624Chromosome 17p13.3, centromeric, duplication syndromeEnrichmentYWHAE1.69
625Tricuspid valve insufficiencyEnrichmentMYH111.69
626Pierpont syndromeEnrichmentTBL1XR11.69
627Intellectual developmental disorder, autosomal dominant 41EnrichmentTBL1XR11.69
628Dystonia 12EnrichmentKMT2B1.69
629Bleeding disorder, platelet-type, 16EnrichmentITGA2B1.69
630Sarcoma, synovialEnrichmentSS181.67
631Macular degeneration, age-related, 5EnrichmentERCC61.66
632Partington syndromeEnrichmentPOLA11.65
633Restrictive dermopathy 1EnrichmentLMNA1.65
634Body mass index quantitative trait locus 12EnrichmentCAST1.65
635Lipodystrophy, familial partial, type 2EnrichmentLMNA1.65
636Muscular dystrophy, congenital, lmna-relatedEnrichmentLMNA1.65
637Proprotein convertase 1/3 deficiencyEnrichmentCAST1.65
638Restrictive dermopathyEnrichmentLMNA1.65
639Rare syndromic intellectual disabilityEnrichmentUBTF1.64
640Erythrocytosis, familial, 1EnrichmentJAK21.64
641Budd-chiari syndromeEnrichmentJAK21.64
642Lipodystrophy, congenital generalized, type 2EnrichmentACTL6B1.64
643Mantle cell lymphomaEnrichmentCCND11.64
644Full schwannomatosisEnrichmentSMARCB11.64
645Clear cell papillary renal cell carcinomaEnrichmentPBRM11.64
646GlioblastomaEnrichmentDNMT3A1.63
647Type 1 diabetes mellitus 2EnrichmentINS1.62
648Dyssegmental dysplasia, silverman-handmaker typeEnrichmentHSPG21.62
649Uvula, bifidEnrichmentUBB1.62
650Alzheimer disease 4EnrichmentAPOE1.62
651Cleft soft palateEnrichmentUBB1.62
652Dysfibrinogenemia, congenitalEnrichmentFGA1.62
653Atrial standstill 2EnrichmentNPPA1.62
654Hypoalphalipoproteinemia, primary, 2EnrichmentAPOA11.62
655Familial dysfibrinogenemiaEnrichmentFGA1.62
656Spastic paraplegia 50, autosomal recessiveEnrichmentAPOA11.62
657Familial hypofibrinogenemiaEnrichmentFGA1.62
658Hyperpigmentation of the skinEnrichmentUSP9X1.62
659Type 2 diabetes mellitusEnrichmentTCF7L21.61
6602q23.1 microduplication syndromeEnrichmentORC41.61
661Inherited acute myeloid leukemiaEnrichmentZCCHC81.59
662Blood platelet diseaseEnrichmentRUNX11.59
663Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentCBFB1.59
664Intellectual developmental disorder, autosomal dominant 26EnrichmentKMT2D1.58
665ProlactinomaEnrichmentMEN11.58
666Primary hyperparathyroidismEnrichmentMEN11.58
667Benign ependymomaEnrichmentMEN11.58
668Aminoacylase 1 deficiencyEnrichmentACTB1.58
669Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentSF3B11.58
670Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.58
671Lessel-kreienkamp syndromeEnrichmentAGO21.58
672Microcephaly 1, primary, autosomal recessiveEnrichmentMCPH11.57
673Gillespie syndromeEnrichmentPAX61.57
674Duane retraction syndromeEnrichmentMAFB1.57
675Charcot-marie-tooth disease type 1EnrichmentEGR21.57
676Megacystis-microcolon-intestinal hypoperistalsis syndrome 1EnrichmentMYH111.57
677Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentYWHAZ1.57
678Mitral valve insufficiencyEnrichmentMYH111.57
679Cockayne syndrome aEnrichmentERCC61.56
680Potocki-shaffer syndromeEnrichmentPHF21A1.56
681Gingival fibromatosisEnrichmentREST1.56
682Down syndromeEnrichmentGATA11.56
683Sporadic pheochromocytoma/secreting paragangliomaEnrichmentDNMT3A1.55
684Von hippel-lindau syndromeEnrichmentCCND11.55
685Diamond-blackfan anemia 1EnrichmentTP531.55
686Hutchinson-gilford progeria syndromeEnrichmentLMNA1.53
687Emery-dreifuss muscular dystrophy 1, x-linkedEnrichmentLMNA1.53
688Emery-dreifuss muscular dystrophyEnrichmentLMNA1.53
689Sick sinus syndromeEnrichmentLMNA1.53
690ScoliosisEnrichmentCREBBP1.53
691Kleefstra syndrome 1EnrichmentEHMT11.51
692Dowling-degos disease 1EnrichmentADAM101.50
693Afibrinogenemia, congenitalEnrichmentFGA1.50
694Macular degeneration, age-related, 1EnrichmentAPOE1.50
695Hypoalphalipoproteinemia, primary, 1EnrichmentAPOA11.50
696Neonatal diabetes mellitusEnrichmentINS1.50
697Dowling-degos diseaseEnrichmentPSENEN1.50
698Corneal dystrophyEnrichmentTGFBI1.50
699Immunodeficiency by defective expression of mhc class iEnrichmentB2M1.50
700Congenital generalized lipodystrophyEnrichmentCAVIN11.49
701Autosomal dominant severe congenital neutropeniaEnrichmentGFI11.49
702Aggressive systemic mastocytosisEnrichmentRUNX11.49
703Hereditary sensory and autonomic neuropathy type 1EnrichmentDNMT11.49
704Cockayne syndrome bEnrichmentERCC61.49
705Capillary malformations, congenitalEnrichmentCCNH1.48
706Hypogonadotropic hypogonadism 1 with or without anosmiaEnrichmentPOLR2F1.48
707Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadismEnrichmentPOLR1C1.48
708AmblyopiaEnrichmentKMT2D1.48
709Idiopathic aplastic anemiaEnrichmentTERT1.48
710Congenital nervous system abnormalityEnrichmentCREBBP, CTNNB1, KMT2D1.48
711Nervous system diseaseEnrichmentCREBBP, CTNNB1, KMT2D1.48
712Body mass index quantitative trait locus 11EnrichmentDNMT3A, PRMT71.48
713Visceral myopathy 1EnrichmentMYH111.47
714Deafness, autosomal recessive 63EnrichmentMYH91.47
715Congenital ptosisEnrichmentMYH101.47
716Wiedemann-steiner syndromeEnrichmentARID1B1.47
717Inguinal herniaEnrichmentACTL6A1.47
718Renal hypoplasiaEnrichmentPRMT71.47
719Clear cell renal cell carcinomaEnrichmentPBRM11.47
720Early myoclonic encephalopathyEnrichmentPRMT71.47
721Bernard-soulier syndromeEnrichmentGP1BA1.47
722Chondrosarcoma, extraskeletal myxoidEnrichmentNR4A31.47
723Intellectual developmental disorder with speech delay, autism, and dysmorphic faciesEnrichmentCNOT31.46
724Aniridia 1EnrichmentPAX61.45
725Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalitiesEnrichmentPOLR2A1.45
726Eyelid colobomaEnrichmentPAX61.45
727Lens colobomaEnrichmentPAX61.45
728Prostate cancerEnrichmentTP531.45
729Autosomal recessive non-syndromic intellectual disabilityEnrichmentKDM5B, METTL231.44
730Autosomal recessive limb-girdle muscular dystrophy type 2bEnrichmentLMNA1.44
731Histiocytoid hemangiomaEnrichmentLMNA1.44
732Cockayne syndromeEnrichmentERCC61.42
733Difference of sex developmentEnrichmentAR1.42
734PancytopeniaEnrichmentRUNX11.41
735Klippel-trenaunay-weber syndromeEnrichmentCCNH1.41
736Telangiectasia, hereditary hemorrhagic, type 1EnrichmentCCNH1.41
737Waardenburg syndrome, type 4aEnrichmentPOLR2F1.41
738Hemangioma, capillary infantileEnrichmentCCNH1.41
739Basal cell carcinoma 1EnrichmentCCNH1.41
740Waardenburg syndromeEnrichmentPOLR2F1.41
741Dyskeratosis congenita, autosomal dominant 1EnrichmentTERT1.41
742Pulmonary fibrosisEnrichmentTERT1.41
743Hoyeraal-hreidarsson syndromeEnrichmentTERT1.41
744Kidney clear cell sarcomaEnrichmentTERT1.41
745Melanoma, uvealEnrichmentSF3B11.41
746Alzheimer disease 2EnrichmentAPOE1.40
747Dementia, lewy bodyEnrichmentSNCA1.40
748Parkinson disease 2, autosomal recessive juvenileEnrichmentPRKN1.40
749Parkin type of early-onset parkinson diseaseEnrichmentPRKN1.40
750MyelofibrosisEnrichmentJAK21.40
751BrachydactylyEnrichmentPRMT71.40
752Congenital hydrocephalusEnrichmentSMARCC11.40
753Hemihyperplasia, isolatedEnrichmentRHOA1.39
754Intestinal pseudo-obstructionEnrichmentMYH111.39
755Gastric cancerEnrichmentCDKN2A, TP531.39
756Emery-dreifuss muscular dystrophy 2, autosomal dominantEnrichmentLMNA1.36
757Inflammatory bowel disease 25, autosomal recessiveEnrichmentRIPK11.36
758Il10-related early-onset inflammatory bowel diseaseEnrichmentRIPK11.36
759Lung squamous cell carcinomaEnrichmentCDKN2A1.36
760Hypertrophic neuropathy of dejerine-sottasEnrichmentEGR21.35
761AniridiaEnrichmentPAX61.35
762Coloboma of choroid and retinaEnrichmentPAX61.35
763Diamond-blackfan anemiaEnrichmentTP531.35
764Leukemia, chronic myeloidEnrichmentRUNX11.35
765Gastroesophageal refluxEnrichmentACTL6A1.35
766NeuroblastomaEnrichmentSMARCA41.35
767Waardenburg syndrome, type 1EnrichmentPOLR2F1.34
768Waardenburg syndrome, type 2eEnrichmentPOLR2F1.34
769Capillary malformation-arteriovenous malformation 1EnrichmentCCNH1.34
770Hereditary hemorrhagic telangiectasiaEnrichmentCCNH1.34
771Gastrointestinal stromal tumorEnrichmentMEN11.34
772Dyskeratosis congenita, autosomal dominant 2EnrichmentTERT1.34
773Type 1 diabetes mellitusEnrichmentINS1.33
774Lipid metabolism disorderEnrichmentAPOE1.33
775Glanzmann thrombasthenia 1EnrichmentITGA2B1.32
776MicrocephalyEnrichmentCTNNB1, EP300, KMT2D1.32
777Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentMYH14, MYH91.31
778PolymicrogyriaEnrichmentEHMT11.30
779Leukemia, acute lymphoblastic 3EnrichmentJAK21.30
780Ventricular septal defectEnrichmentSMARCA41.30
781Specific learning disabilityEnrichmentDNMT3A1.29
782Bethlem myopathy 1aEnrichmentLMNA1.29
783Alzheimer's disease 1EnrichmentAPP1.29
784Ewing sarcomaEnrichmentFLI11.29
785Severe congenital neutropeniaEnrichmentCSF3R1.29
786Permanent neonatal diabetes mellitusEnrichmentSTAT31.29
78746,xy complete gonadal dysgenesisEnrichmentAR1.28
788Coloboma of optic nerveEnrichmentPAX61.28
789Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndromeEnrichmentPAX61.28
790Anterior segment dysgenesis 5EnrichmentPAX61.28
791Hereditary breast carcinomaEnrichmentTP531.27
792Fanconi anemia, complementation group cEnrichmentHDAC81.27
793Thrombophilia due to thrombin defectEnrichmentFGA1.26
794Primary bone dysplasiaEnrichmentPRMT71.25
795Cornelia de lange syndrome 1EnrichmentKMT2A1.24
796Cornelia de lange syndromeEnrichmentKMT2A1.24
797Methylmalonic aciduria and homocystinuria, cblc typeEnrichmentPRDX11.24
798Congenital muscular dystrophyEnrichmentLMNA1.24
799MyocarditisEnrichmentLMNA1.24
800Inflammatory bowel disease 1EnrichmentERCC21.24
801Arteriovenous malformationEnrichmentCCNH1.24
802Hypotrichosis simplexEnrichmentERCC21.24
803Familial thoracic aortic aneurysm and dissectionEnrichmentMYH111.22
804OsteochondrodysplasiaEnrichmentPRMT71.21
805Hereditary breast ovarian cancer syndromeEnrichmentRIPK1, TP531.20
806Autosomal non-syndromic agammaglobulinemiaEnrichmentSPI11.20
807Pituitary stalk interruption syndromeEnrichmentDNMT11.19
808Myopathy, x-linked, with excessive autophagyEnrichmentCCNH1.19
809Aplastic anemiaEnrichmentTERT1.19
810Arrhythmogenic right ventricular dysplasia, familial, 9EnrichmentLMNA1.19
811Stereotypic movement disorderEnrichmentJARID21.17
812Septooptic dysplasiaEnrichmentARID1A1.17
813Diabetes mellitusEnrichmentMEN11.15
814Primary ovarian insufficiencyEnrichmentDPPA21.15
815Hypercholesterolemia, familial, 1EnrichmentSMARCA41.14
816Nk-cell enteropathyEnrichmentSMARCB11.14
817Orofacial cleft 1EnrichmentMAFB1.11
818Immune deficiency diseaseEnrichmentRIPK11.10
819Leukemia, acute lymphoblasticEnrichmentCDKN2A1.10
820Isolated congenital microcephalyEnrichmentMCPH11.08
821Renal cell carcinoma, nonpapillaryEnrichmentPBRM11.08
822Familial hypercholesterolemiaEnrichmentSMARCA41.08
823Cardiac conduction defectEnrichmentLMNA1.07
824Muscular dystrophy, limb-girdle, autosomal recessive 2EnrichmentLMNA1.07
825Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentLMNA1.07
826Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentLMNA1.07
827Cat eye syndromeEnrichmentPAX61.06
828Peters-plus syndromeEnrichmentPAX61.06
829Protein-deficiency anemiaEnrichmentGATA11.06
830Parkinson's diseaseEnrichmentTBP1.05
831Aortic aneurysm, familial thoracic 1EnrichmentMYH111.04
832Melanoma, cutaneous malignant 1EnrichmentCDK41.03
833Cleft palate, isolatedEnrichmentSMARCA41.03
834Dyskeratosis congenitaEnrichmentZCCHC81.03
835Male infertility with spermatogenesis disorderEnrichmentKMT2D1.02
836MyopiaEnrichmentMYH111.01
837Seckel syndromeEnrichmentPRIM11.00
838Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentLMNA1.00
839Chromosome 1p36 deletion syndromeEnrichmentHSPG21.00
840HypertensionEnrichmentMEN11.00
841Digeorge syndromeEnrichmentHIRA0.99
842Interstitial lung disease 2EnrichmentTERT0.97
843Dandy-walker syndromeEnrichmentKMT2D0.97
844Arrhythmogenic right ventricular cardiomyopathyEnrichmentLMNA0.95
845Polycystic kidney diseaseEnrichmentHDAC80.93
846Cardiomyopathy, dilated, 1eEnrichmentLMNA0.92
847LeukodystrophyEnrichmentERCC20.90
848Williams-beuren syndromeEnrichmentBAZ1B0.90
849Anterior segment dysgenesisEnrichmentPAX60.90
850Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentLMNA0.88
851Hydrops fetalis, nonimmuneEnrichmentARID1A0.86
852Kallmann syndromeEnrichmentPOLR2F0.85
853Cardiomyopathy, dilated, 1aEnrichmentLMNA0.84
854Noonan syndrome 1EnrichmentPPP1CB0.83
855Maturity-onset diabetes of the youngEnrichmentINS0.83
856Charcot-marie-tooth disease type 4EnrichmentEGR20.82
857West syndromeEnrichmentKDM2B0.82
858Male infertilityEnrichmentAR0.82
859Esophageal atresia/tracheoesophageal fistulaEnrichmentPOLR2B0.80
860Lung cancerEnrichmentERCC60.79
861Skin diseaseEnrichmentNCSTN0.79
862Non-immune hydrops fetalisEnrichmentARID1A0.79
863RasopathyEnrichmentPPP1CB0.79
864Cardiomyopathy, familial hypertrophic, 1EnrichmentLMNA0.78
865Muscular dystrophyEnrichmentLMNA0.78
866StrabismusEnrichmentKMT2D0.78
867Macs syndromeEnrichmentPAX60.78
868Autosomal dominant non-syndromic intellectual disabilityEnrichmentKDM5B0.77
869Differentiated thyroid carcinomaEnrichmentTERT0.76
870Familial atrial fibrillationEnrichmentNPPA0.75
871Brugada syndromeEnrichmentLMNA0.75
872Cerebral palsyEnrichmentSMARCA40.70
873Long qt syndromeEnrichmentLMNA0.68
874Peripheral nervous system diseaseEnrichmentLMNA0.67
875NeuropathyEnrichmentLMNA0.67
876DystoniaEnrichmentKMT2B0.67
877Non-syndromic genetic deafnessEnrichmentMYH140.66
878Spastic ataxiaEnrichmentDNMT10.65
879Left ventricular noncompactionEnrichmentLMNA0.64
880Familial isolated dilated cardiomyopathyEnrichmentTAF1A0.64
881Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentAR0.62
882EpilepsyEnrichmentSETD1B0.61
883Nonsyndromic hearing lossEnrichmentMYH140.60
884Non-syndromic x-linked intellectual disabilityEnrichmentUSP9X0.60
885Familial thoracic aortic aneurysm and aortic dissectionEnrichmentMYH110.58
886SchizophreniaEnrichmentEHMT10.58
887Charcot-marie-tooth diseaseEnrichmentLMNA0.58
888Undetermined early-onset epileptic encephalopathyEnrichmentACTL6B0.56
889Joubert syndrome 1EnrichmentRCOR10.53
890HypertelorismEnrichmentMYH100.52
891Dilated cardiomyopathyEnrichmentNCAPH20.45
892Deafness, autosomal recessiveEnrichmentMYH90.45
893Autosomal recessive nonsyndromic deafnessEnrichmentMYH90.45
894Rare genetic deafnessEnrichmentPOLR2F0.39
895Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentMYH90.34
896Mitochondrial diseaseEnrichmentC1QBP0.32

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