Processing of Capped Intron-Containing Pre-mRNA

Pathway network for the Processing of Capped Intron-Containing Pre-mRNA SuperPath

Sources:
  • Reactome
  • WikiPathways

Pathways in the Processing of Capped Intron-Containing Pre-mRNA SuperPath

#NameSourceGenes
1Processing of Capped Intron-Containing Pre-mRNAReactome
(see all 283) (see less)
2Metabolism of RNAReactome
(see all 737) (see less)
3mRNA SplicingReactome
4mRNA Splicing - Major PathwayReactome
5mRNA processingWikiPathways

Gene overlap in member pathways for Processing of Capped Intron-Containing Pre-mRNA SuperPath

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

Disorders associated with Processing of Capped Intron-Containing Pre-mRNA SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Diamond-blackfan anemiaEnrichmentRPL11, RPL15, RPL17, RPL18, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL5, RPL8, RPL9, RPS10, RPS15A, RPS17, RPS19, RPS20, RPS24, RPS26, RPS27, RPS28, RPS29, RPS710.85
2Galloway-mowat syndromeEnrichmentGON7, LAGE3, NUP107, NUP133, OSGEP, TP53RK, TPRKB, WDR4, YRDC10.38
3Diamond-blackfan anemia 1EnrichmentRPL11, RPL17, RPL35A, RPL5, RPL9, RPS10, RPS17, RPS19, RPS20, RPS24, RPS26, RPS79.31
4Genetic steroid-resistant nephrotic syndromeEnrichmentNUP107, NUP133, NUP160, NUP205, NUP37, NUP85, NUP935.28
5Inclusion body myopathy with paget disease of bone and frontotemporal dementiaEnrichmentHNRNPA1, HNRNPA2B13.59
6Pontocerebellar hypoplasia, type 2eEnrichmentTSEN15, TSEN2, TSEN34, TSEN543.58
7Pontocerebellar hypoplasiaEnrichmentCDC40, EXOSC3, EXOSC9, PPIL1, TSEN2, TSEN543.57
8Myelodysplastic syndromeEnrichmentDDX41, SF3B1, U2AF13.29
9Intellectual developmental disorder, x-linked, syndromic, bain typeEnrichmentHNRNPH1, HNRNPH23.29
10Intellectual disability, x-linked, syndromic, bain typeEnrichmentHNRNPH1, HNRNPH23.29
11Familial infantile bilateral striatal necrosisEnrichmentADAR, NUP54, NUP623.21
12TrichothiodystrophyEnrichmentERCC2, ERCC3, GTF2H5, RNF113A3.06
13Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalitiesEnrichmentPOLR2A, PUF602.87
14Galloway-mowat syndrome 1EnrichmentGON7, OSGEP, WDR42.83
15Renal cell carcinoma with mit translocationsEnrichmentNONO, SFPQ2.75
16Pontocerebellar hypoplasia, type 1eEnrichmentEXOSC3, EXOSC8, EXOSC92.55
17Dyskeratosis congenitaEnrichmentDKC1, NHP2, NOP10, PARN, ZCCHC82.54
18Neurodevelopmental disorder with hypotonia, microcephaly, and seizuresEnrichmentADARB1, CPSF32.53
19Spinal muscular atrophy, type iiiEnrichmentSMN1, SMN22.07
20Spinal muscular atrophy, type iEnrichmentSMN1, SMN22.07
21Spinal muscular atrophy, type iiEnrichmentSMN1, SMN22.07
22Spinal muscular atrophy, type ivEnrichmentSMN1, SMN22.07
23Diamond-blackfan anemia 15 with mandibulofacial dysostosisEnrichmentRPS26, RPS282.07
24Trichohepatoenteric syndromeEnrichmentSKIC2, SKIC32.07
25Acrofacial dysostosis syndrome of rodriguezEnrichmentSF3B42.03
26Intellectual developmental disorder, x-linked, syndromic, gustavson typeEnrichmentRBMX2.03
27Developmental and epileptic encephalopathy 85 with or without midline brain defectsEnrichmentSMC1A2.03
28Rhabdomyosarcoma, embryonal, 2EnrichmentDICER12.03
29Intellectual developmental disorder, x-linked 113EnrichmentCSTF22.03
30Tremor, hereditary essential, 4EnrichmentFUS2.03
31Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3EnrichmentHNRNPA12.03
32Neuromuscular oculoauditory syndromeEnrichmentDHX162.03
33Nabais sa-de vries syndrome, type 2EnrichmentSPOP2.03
34Retinitis pigmentosa 70EnrichmentPRPF42.03
35Leukodystrophy and cerebellar atrophyEnrichmentLSM72.03
36Developmental and epileptic encephalopathy 54EnrichmentHNRNPU2.03
37Intellectual developmental disorder, x-linked, syndromic 34EnrichmentNONO2.03
38Developmental delay, dysmorphic facies, and brain anomaliesEnrichmentU2AF22.03
39Pontocerebellar hypoplasia, type 15EnrichmentCDC402.03
40Dicer1 syndromeEnrichmentDICER12.03
41Retinitis pigmentosa 18EnrichmentPRPF32.03
42Pleuropulmonary blastomaEnrichmentDICER12.03
43Global developmental delay, lung cysts, overgrowth, and wilms tumorEnrichmentDICER12.03
44Myopathy, distal, 3EnrichmentHNRNPA12.03
45Mandibulofacial dysostosis, guion-almeida typeEnrichmentEFTUD22.03
46Retinitis pigmentosa 60EnrichmentPRPF62.03
47Pontocerebellar hypoplasia, type 10EnrichmentCLP12.03
48Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2EnrichmentHNRNPA2B12.03
49Nabais sa-de vries syndrome, type 1EnrichmentSPOP2.03
50Amyotrophic lateral sclerosis 20EnrichmentHNRNPA12.03
51Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalitiesEnrichmentHNRNPR2.03
52Syndromic x-linked intellectual disability 34EnrichmentNONO2.03
53Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizuresEnrichmentCPSF32.03
54Finnish upper limb-onset distal myopathyEnrichmentHNRNPA12.03
55Retinitis pigmentosa 84EnrichmentDHX382.03
56Malignant sertoli-leydig cell tumor of ovaryEnrichmentDICER12.03
57Intellectual developmental disorder, autosomal dominant 74EnrichmentHNRNPC2.03
58Oculopharyngeal muscular dystrophy 2EnrichmentHNRNPA2B12.03
59Relapsing-remitting multiple sclerosisEnrichmentHNRNPA12.03
60Cholestasis, progressive familial intrahepatic, 13EnrichmentPSKH12.03
61Intellectual developmental disorder, autosomal dominant 75EnrichmentDHX92.03
62Supratentorial primitive neuroectodermal tumorEnrichmentDICER12.03
63GynandroblastomaEnrichmentDICER12.03
64Dicer1 tumor predispositionEnrichmentDICER12.03
65Genetic syndromic pierre robin syndromeEnrichmentEFTUD22.03
661q44 microdeletion syndromeEnrichmentHNRNPU2.03
67Leukemia, acute myeloidEnrichmentDDX41, NUP214, SF3B1, SRSF22.03
68Hypotrichosis simplexEnrichmentERCC2, RPL21, SNRPE1.98
69LeukodystrophyEnrichmentLSM7, U2AF21.83
70Robin sequence with cleft mandible and limb anomaliesEnrichmentEIF4A31.82
71Intellectual developmental disorder, x-linked, syndromic 14EnrichmentUPF3B1.82
72Trichothiodystrophy 5, nonphotosensitiveEnrichmentRNF113A1.82
73Retinitis pigmentosa with or without skeletal anomaliesEnrichmentCWC271.82
74Retinitis pigmentosa 33EnrichmentSNRNP2001.82
75Intellectual developmental disorder, x-linked, syndromic, armfield typeEnrichmentFAM50A1.82
76Intellectual developmental disorder, x-linked 2EnrichmentPQBP11.82
77Intellectual developmental disorder, x-linked, syndromic, hackmann-di donato typeEnrichmentNKAP1.82
78Intellectual developmental disorder, x-linked 107EnrichmentSTEEP11.82
79Neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalitiesEnrichmentWBP41.82
80Vertebral, cardiac, tracheoesophageal, renal, and limb defectsEnrichmentWBP111.82
81Myeloproliferative/lymphoproliferative neoplasms, familialEnrichmentDDX411.82
82Neurodevelopmental disorder with spasticity, seizures, and brain abnormalitiesEnrichmentNSRP11.82
83Pontocerebellar hypoplasia, type 14EnrichmentPPIL11.82
84Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopeniasEnrichmentCTNNBL11.82
85Syndromic x-linked intellectual disability 14EnrichmentUPF3B1.82
86Ddx41-related hematologic malignancy predisposition syndromeEnrichmentDDX411.82
87Achalasia-progeroid syndromeEnrichmentBUD131.82
88Intellectual developmental disorder, autosomal dominant 72EnrichmentSRRM21.82
89Holoprosencephaly-hypokinesia-congenital contractures syndromeEnrichmentGPKOW1.82
90Armfield syndromeEnrichmentFAM50A1.82
91Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeEnrichmentPUF601.82
92Retinitis pigmentosaEnrichmentCWC27, DHX38, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, SNRNP2001.81
93Orofaciodigital syndrome xxiEnrichmentZRSR21.80
94Pituitary hormone deficiency, combined or isolated, 7EnrichmentRNPC31.80
95Combined or isolated pituitary growth hormone deficiency 7EnrichmentRNPC31.80
96Trichohepatoenteric syndrome 1EnrichmentSKIC2, SKIC31.78
97Intellectual developmental disorder with speech delay, autism, and dysmorphic faciesEnrichmentCNOT3, LENG11.78
98Non-syndromic x-linked intellectual disabilityEnrichmentFAM50A, STEEP1, UPF3B1.77
99Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentFUS, HNRNPA1, HNRNPA2B11.77
100Complex neurodevelopmental disorderEnrichmentCNOT1, CNOT3, CPSF3, DDX6, EIF4A2, FAM50A, HNRNPC, PPP2CA, PRPF8, PSMD12, PUS7, TRMT1, UPF11.77
101Cerebrocostomandibular syndromeEnrichmentSNRPB1.73
102Acrofacial dysostosis 1, nager typeEnrichmentSF3B41.73
103Retinitis pigmentosa 13EnrichmentPRPF81.73
104Cornelia de lange syndrome 2EnrichmentSMC1A1.73
105Intellectual developmental disorder, x-linked, syndromic, shashi typeEnrichmentRBMX1.73
106Amyotrophic lateral sclerosis 6 with or without frontotemporal dementiaEnrichmentFUS1.73
107Goiter, multinodular 1, with or without sertoli-leydig cell tumorsEnrichmentDICER11.73
108Hypotrichosis 11EnrichmentSNRPE1.73
109Neutropenia, severe congenital, 8, autosomal dominantEnrichmentSRP541.73
110Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalitiesEnrichmentSRSF11.73
111Myopia 27, autosomal dominantEnrichmentCPSF11.73
112Vertebral anomalies and variable endocrine and t-cell dysfunctionEnrichmentDICER11.73
113Syndromic x-linked intellectual disability shashi typeEnrichmentRBMX1.73
114PineoblastomaEnrichmentDICER11.73
115Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defectsEnrichmentHNRNPH11.73
116Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxiaEnrichmentPRPF181.73
117Developmental and epileptic encephalopathy 97EnrichmentCELF21.73
118Malignant granulosa cell tumor of the ovaryEnrichmentDICER11.73
119Fetal akinesia deformation sequence 4EnrichmentNUP881.68
120Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrimaEnrichmentNDC11.68
121Atrial fibrillation, familial, 15EnrichmentNUP1551.68
122Dystonia 37, early-onset, with striatal lesionsEnrichmentNUP541.68
123Nephrotic syndrome, type 19EnrichmentNUP1601.68
124Galloway-mowat syndrome 8EnrichmentNUP1331.68
125Autism 19EnrichmentEIF4E1.68
126Arthrogryposis multiplex congenita 7, x-linkedEnrichmentTHOC21.68
127Nephrotic syndrome, type 13EnrichmentNUP2051.68
128Microcephaly 24, primary, autosomal recessiveEnrichmentNUP371.68
129Galloway-mowat syndrome 7EnrichmentNUP1071.68
130Nephrotic syndrome, type 12EnrichmentNUP931.68
131Nephrotic syndrome, type 11EnrichmentNUP1071.68
132Encephalopathy, acute, infection-induced 9EnrichmentNUP2141.68
133Sandestig-stefanova syndromeEnrichmentNUP1881.68
134Ovarian dysgenesis 6EnrichmentNUP1071.68
135Intellectual developmental disorder, autosomal recessive 79EnrichmentTPR1.68
136Nephrotic syndrome, type 18EnrichmentNUP1331.68
137Deafness, autosomal dominant 86EnrichmentTHOC11.68
138Familial acute necrotizing encephalopathyEnrichmentRANBP21.68
139Spinal muscular atrophyEnrichmentSMN1, SMN21.58
140Inherited acute myeloid leukemiaEnrichmentDDX41, ZCCHC81.58
141Xeroderma pigmentosum-cockayne syndrome complexEnrichmentERCC2, ERCC31.58
142Oculopharyngeal muscular dystrophy 1EnrichmentPABPN11.56
143Burn-mckeown syndromeEnrichmentTXNL4A1.56
144Distal myopathyEnrichmentHNRNPA11.56
145Myxoid liposarcomaEnrichmentFUS1.56
146MyxofibrosarcomaEnrichmentFUS1.56
147Myelodysplastic syndrome with ring sideroblastsEnrichmentSF3B11.56
148Angelman syndrome due to imprinting defect in 15q11-q13EnrichmentSNRPN1.56
149Renpenning syndrome 1EnrichmentPQBP11.52
150Tarp syndromeEnrichmentRBM101.52
151Waardenburg syndrome, type 4cEnrichmentPOLR2F1.52
152Retinitis pigmentosa 11EnrichmentPRPF311.52
153Renpenning syndromeEnrichmentPQBP11.52
154Verheij syndromeEnrichmentPUF601.52
155Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung diseaseEnrichmentPOLR2F1.52
156Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizuresEnrichmentSNIP11.52
157Status epilepticusEnrichmentSRRM21.52
158Esophageal atresia/tracheoesophageal fistulaEnrichmentEFTUD2, POLR2B1.48
159Myopathy, autophagic vacuolar, infantile-onsetEnrichmentHNRNPA2B11.43
160Schaaf-yang syndromeEnrichmentSNRPN1.43
161Au-kline syndromeEnrichmentHNRNPK1.43
162Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentSF3B11.43
163Chronic myelomonocytic leukemiaEnrichmentSRSF21.43
164Embryonal rhabdomyosarcomaEnrichmentDICER11.43
165Systemic mastocytosis with associated hematologic neoplasmEnrichmentSRSF21.43
166Hoyeraal-hreidarsson syndromeEnrichmentDKC1, PARN1.42
167Lethal congenital contracture syndrome 1EnrichmentGLE11.38
168Camptodactyly-arthropathy-coxa vara-pericarditis syndromeEnrichmentTPR1.38
169Striatonigral degeneration, infantileEnrichmentNUP621.38
170Intellectual developmental disorder, x-linked, syndromic, kumar typeEnrichmentTHOC21.38
171Congenital arthrogryposis with anterior horn cell diseaseEnrichmentGLE11.38
172Beaulieu-boycott-innes syndromeEnrichmentTHOC61.38
173Nephrotic syndrome, type 17EnrichmentNUP851.38
174Immunodeficiency 127EnrichmentTHOC21.38
175Chronic eosinophilic leukemiaEnrichmentFIP1L11.38
176Acute myeloid leukemia with t(6;9) (p23;q34.1)EnrichmentNUP2141.38
177Acute necrotizing encephalopathy of childhoodEnrichmentRANBP21.38
178Waardenburg syndrome, type 2aEnrichmentPOLR2F1.35
179Intellectual developmental disorder, x-linked, syndromic, lujan-fryns typeEnrichmentUPF3B1.35
180Thrombocytopenia-absent radius syndromeEnrichmentRBM8A1.35
181Fabry diseaseEnrichmentHNRNPH21.34
182Ciliary dyskinesia, primary, 40EnrichmentSRP541.34
183Aggressive systemic mastocytosisEnrichmentSRSF21.34
184Proteus syndromeEnrichmentAKT11.26
185Pontocerebellar hypoplasia, type 2aEnrichmentTSEN541.26
186Hsd10 mitochondrial diseaseEnrichmentHSD17B101.26
187Intellectual developmental disorder, x-linked 9EnrichmentFTSJ11.26
188Intellectual developmental disorder, x-linked, syndromic 35EnrichmentRPL101.26
189Asplenia, isolated congenitalEnrichmentRPSA1.26
190North american indian childhood cirrhosisEnrichmentUTP41.26
191Spinocerebellar ataxia 25EnrichmentPNPT11.26
192Intellectual developmental disorder, x-linked, syndromic, wilson-turner typeEnrichmentLAS1L1.26
193Diamond-blackfan anemia 10EnrichmentRPS261.26
194Pontocerebellar hypoplasia, type 2bEnrichmentTSEN21.26
195Pontocerebellar hypoplasia, type 2cEnrichmentTSEN341.26
196Glaucoma 1, open angle, gEnrichmentWDR361.26
197Xeroderma pigmentosum, complementation group bEnrichmentERCC31.26
198Alopecia, neurologic defects, and endocrinopathy syndromeEnrichmentRBM281.26
199Hypotrichosis 12EnrichmentRPL211.26
200Combined oxidative phosphorylation deficiency 10EnrichmentMTO11.26
201Combined oxidative phosphorylation deficiency 23EnrichmentGTPBP31.26
202Diamond-blackfan anemia 13EnrichmentRPS291.26
203Parkinson disease 18, autosomal dominantEnrichmentEIF4G11.26
204Dyskeratosis congenita, autosomal recessive 6EnrichmentPARN1.26
205Dyskeratosis congenita, autosomal recessive 1EnrichmentNOP101.26
206Pontocerebellar hypoplasia, type 2fEnrichmentTSEN151.26
207Advanced sleep phase syndrome, familial, 2EnrichmentCSNK1D1.26
208Anauxetic dysplasia 2EnrichmentPOP11.26
209Pontocerebellar hypoplasia, type 5EnrichmentTSEN541.26
210Microcephaly, short stature, and impaired glucose metabolism 1EnrichmentTRMT10A1.26
211Spastic ataxia 4, autosomal recessiveEnrichmentMTPAP1.26
212Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delayEnrichmentTRMT51.26
213Diamond-blackfan anemia 7EnrichmentRPL111.26
214Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD1.26
215Bowen-conradi syndromeEnrichmentEMG11.26
216Diamond-blackfan anemia 18EnrichmentRPL181.26
217Holoprosencephaly 12 with or without pancreatic agenesisEnrichmentCNOT11.26
218Neurodevelopmental disorder with cerebellar atrophy and motor dysfunctionEnrichmentGEMIN51.26
219Intellectual developmental disorder, autosomal recessive 71EnrichmentALKBH81.26
220Spondyloepimetaphyseal dysplasia, isidor-toutain typeEnrichmentRPL131.26
221Spermatogenic failure 63EnrichmentRPL10L1.26
222Pontocerebellar hypoplasia, type 1fEnrichmentEXOSC11.26
223Neurodevelopmental disorder with microcephaly, hypotonia, and absent languageEnrichmentPSMB11.26
224Autism x-linked 5EnrichmentRPL101.26
225Cerebellar ataxia, brain abnormalities, and cardiac conduction defectsEnrichmentEXOSC51.26
226Intellectual developmental disorder with abnormal behavior, microcephaly, and short statureEnrichmentPUS71.26
227Deafness, aminoglycoside-inducedEnrichmentTRMU1.26
228Intellectual developmental disorder with impaired language and dysmorphic faciesEnrichmentDDX61.26
229Diamond-blackfan anemia 20EnrichmentRPS15A1.26
230Hoxha-aliu syndromeEnrichmentERI11.26
231Microcephaly, growth deficiency, seizures, and brain malformationsEnrichmentWDR41.26
23246,xy sex reversal 11EnrichmentDHX371.26
233Stankiewicz-isidor syndromeEnrichmentPSMD121.26
234Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2EnrichmentNOP101.26
235Galloway-mowat syndrome 6EnrichmentWDR41.26
236Xeroderma pigmentosum, complementation group dEnrichmentERCC21.26
237Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1EnrichmentDKC11.26
238Diamond-blackfan anemia 3EnrichmentRPS241.26
239Diamond-blackfan anemia 8EnrichmentRPS71.26
240Combined oxidative phosphorylation deficiency 30EnrichmentTRMT10C1.26
241Syndromic x-linked intellectual disability type 10EnrichmentHSD17B101.26
242Houge-janssens syndrome 2EnrichmentPPP2R1A1.26
243Deafness, cataract, impaired intellectual development, and polyneuropathyEnrichmentPSMC31.26
244Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delayEnrichmentTRNT11.26
245Trichothiodystrophy 2, photosensitiveEnrichmentERCC31.26
246Xeroderma pigmentosum group bEnrichmentERCC31.26
247Charcot-marie-tooth disease, axonal, type 2fEnrichmentHSPB11.26
248Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalitiesEnrichmentGEMIN41.26
249Intellectual developmental disorder, autosomal recessive 68EnrichmentTRMT11.26
250Cerebrooculofacioskeletal syndrome 2EnrichmentERCC21.26
251Diamond-blackfan anemia 4EnrichmentRPS171.26
252Diamond-blackfan anemia 11EnrichmentRPL261.26
253Neurodevelopmental disorder with hypotonia and speech delay, with or without seizuresEnrichmentEIF4A21.26
254Combined oxidative phosphorylation deficiency 13EnrichmentPNPT11.26
255Cowden syndrome 6EnrichmentAKT11.26
256Spastic ataxia 4EnrichmentMTPAP1.26
257Prostate cancer, hereditary, 2EnrichmentELAC21.26
258Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 4EnrichmentPARN1.26
259Trichothiodystrophy 3, photosensitiveEnrichmentGTF2H51.26
260Pontocerebellar hypoplasia, type 1cEnrichmentEXOSC81.26
261Combined oxidative phosphorylation deficiency 17EnrichmentELAC21.26
262Intellectual developmental disorder, autosomal recessive 82EnrichmentNSUN61.26
263Retinitis pigmentosa and erythrocytic microcytosisEnrichmentTRNT11.26
264Inflammatory poikiloderma with hair abnormalities and acral keratosesEnrichmentLTV11.26
265Tsen54 pontocerebellar hypoplasiaEnrichmentTSEN541.26
266Galloway-mowat syndrome 5EnrichmentTPRKB1.26
267Spondyloepimetaphyseal dysplasiaEnrichmentRPL131.26
268Heart and brain malformation syndromeEnrichmentSMG91.26
269Pontocerebellar hypoplasia, type 1dEnrichmentEXOSC91.26
270Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndromeEnrichmentCTU21.26
271Diamond-blackfan anemia 19EnrichmentRPL351.26
272Microcephaly 28, primary, autosomal recessiveEnrichmentRRP7A1.26
273Intellectual developmental disorder, autosomal recessive 50EnrichmentEDC31.26
274Vissers-bodmer syndromeEnrichmentCNOT11.26
275Short stature, hearing loss, retinitis pigmentosa, and distinctive faciesEnrichmentEXOSC21.26
276Leukodystrophy, hypomyelinating, 15EnrichmentEPRS11.26
277Aicardi-goutieres syndrome 8EnrichmentLSM111.26
278Mitochondrial dna depletion syndrome 17EnrichmentMRM21.26
279Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomaliesEnrichmentCNOT21.26
280Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomaliesEnrichmentDHX371.26
281Ficus syndromeEnrichmentLSM11.26
282Alzahrani-kuwahara syndromeEnrichmentSMG81.26
283Brachycephaly, trichomegaly, and developmental delayEnrichmentRPS231.26
284Cardiomyopathy, dilated, 2dEnrichmentRPL3L1.26
285Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9EnrichmentNOP101.26
286Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 5EnrichmentZCCHC81.26
287Galloway-mowat syndrome 9EnrichmentGON71.26
288Muscular dystrophy, limb-girdle, autosomal recessive 29EnrichmentSNUPN1.26
289Myopathy, lactic acidosis, and sideroblastic anemiaEnrichmentPUS11.26
290Spinal muscular atrophy with respiratory distress type 2EnrichmentLAS1L1.26
291X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeEnrichmentRPL101.26
292Spondyloepimetaphyseal dysplasia, guo-campeau typeEnrichmentERI11.26
293Pure red-cell aplasiaEnrichmentRPS261.26
294Xeroderma pigmentosum group dEnrichmentERCC21.26
295Fastkd2-related infantile mitochondrial encephalomyopathyEnrichmentFASTKD21.26
296Diamond-blackfan anemia 22EnrichmentRPL171.26
297Pancreatic agenesis-holoprosencephaly syndromeEnrichmentCNOT11.26
298X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndromeEnrichmentRPL101.26
299Ppp2r1a-related neurodevelopmental disorderEnrichmentPPP2R1A1.26
300Adar-related hereditary spastic paraplegiaEnrichmentADAR1.26
301Congenital sideroblastic anemia-b-cell immunodeficiency-periodic fever-developmental delay syndromeEnrichmentTRNT11.26
302Craniofacial microsomia 1EnrichmentSF3B21.26
303Melanoma, uvealEnrichmentSF3B11.26
304Shwachman-diamond syndrome 1EnrichmentSRP541.26
305Pierre robin syndromeEnrichmentSNRPB1.26
306Wiedemann-steiner syndromeEnrichmentSMC1A1.26
307Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentRANBP21.21
308Prader-willi syndromeEnrichmentSNRPN1.20
309Treacher collins syndrome 1EnrichmentEFTUD21.20
310Leukemia, chronic myeloidEnrichmentSF3B11.20
311Rett syndrome, congenital variantEnrichmentSMC1A1.14
312Hypogonadotropic hypogonadism 1 with or without anosmiaEnrichmentPOLR2F1.13
313Hereditary retinal dystrophyEnrichmentCWC27, DHX38, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, SNRNP2001.13
314Fundus dystrophyEnrichmentCWC27, DHX38, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, SNRNP2001.13
315HoloprosencephalyEnrichmentZRSR21.12
316Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentRANBP21.09
317Achalasia-addisonianism-alacrima syndromeEnrichmentAAAS1.09
318Ectodermal dysplasiaEnrichmentRANBP21.09
319Cornelia de lange syndrome 1EnrichmentSMC1A1.09
320Tracheoesophageal fistula with or without esophageal atresiaEnrichmentEFTUD21.09
321Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentSRSF21.09
322Cornelia de lange syndromeEnrichmentSMC1A1.09
323Juvenile amyotrophic lateral sclerosisEnrichmentFUS1.09
324Aicardi-goutiares syndromeEnrichmentADAR, LSM111.08
325Waardenburg syndrome, type 4aEnrichmentPOLR2F1.06
326Waardenburg syndromeEnrichmentPOLR2F1.06
327Frontotemporal dementia and/or amyotrophic lateral sclerosis 1EnrichmentFUS1.05
328Isolated tracheo-esophageal fistulaEnrichmentEFTUD21.05
329Holoprosencephaly 1EnrichmentZRSR21.04
330Autosomal recessive non-syndromic intellectual disabilityEnrichmentALKBH8, DCPS, EDC3, GEMIN5, NSUN2, TPR1.03
331PolymicrogyriaEnrichmentDHX37, PSMC31.00
332Rare mitochondrial non-syndromic sensorineural deafnessEnrichmentTFB1M, TRMU1.00
333Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominantEnrichmentRANBP21.00
334Autosomal recessive hypohidrotic ectodermal dysplasia syndromeEnrichmentRANBP21.00
335Primary hypereosinophilic syndromeEnrichmentFIP1L11.00
336Waardenburg syndrome, type 1EnrichmentPOLR2F1.00
337Polymicrogyria, bilateral perisylvian, x-linkedEnrichmentDDX231.00
338Waardenburg syndrome, type 2eEnrichmentPOLR2F1.00
339Renal cell carcinoma, papillary, 1EnrichmentPRCC1.00
340Chromosome 5q deletion syndromeEnrichmentRPS140.98
341Galloway-mowat syndrome 2, x-linkedEnrichmentLAGE30.98
342Intellectual developmental disorder, autosomal recessive 2EnrichmentTRNT10.98
343Diamond-blackfan anemia 6EnrichmentRPL50.98
344Diamond-blackfan anemia 9EnrichmentRPS100.98
345Intellectual developmental disorder, autosomal recessive 5EnrichmentNSUN20.98
346Dyschromatosis symmetrica hereditariaEnrichmentADAR0.98
347Diamond-blackfan anemia 5EnrichmentRPL35A0.98
348Neuronopathy, distal hereditary motor, autosomal dominant 3EnrichmentHSPB10.98
349Trichohepatoenteric syndrome 2EnrichmentSKIC20.98
350Dubowitz syndromeEnrichmentNSUN20.98
351Hydrolethalus syndrome 1EnrichmentPUS30.98
352Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic faciesEnrichmentADAT30.98
353Dyskeratosis congenita, autosomal recessive 2EnrichmentNHP20.98
354Neurodevelopmental disorder with microcephaly and gray scleraeEnrichmentPUS30.98
355Aicardi-goutieres syndrome 6EnrichmentADAR0.98
356Diamond-blackfan anemia 12EnrichmentRPL150.98
357Deafness, autosomal recessive 70, with or without adult-onset neurodegenerationEnrichmentPNPT10.98
358Neurodevelopmental disorder with speech delay and variable ocular anomaliesEnrichmentTHUMPD10.98
359Combined oxidative phosphorylation deficiency 54EnrichmentPRORP0.98
360Birk-aharoni syndromeEnrichmentPSMC10.98
361Combined oxidative phosphorylation deficiency 44EnrichmentFASTKD20.98
362Spastic ataxia 10, autosomal recessiveEnrichmentTRUB20.98
363Proteasome-associated autoinflammatory syndrome 3EnrichmentPSMB40.98
364Autosomal recessive nonsyndromic deafness 70EnrichmentPNPT10.98
365Wilson-turner syndromeEnrichmentLAS1L0.98
366Alopecia-intellectual disability syndrome 4EnrichmentCNOT10.98
367Spinocerebellar ataxia, autosomal recessive 28EnrichmentTHG1L0.98
368Psychotic disorderEnrichmentRCL10.98
369Diamond-blackfan anemia 16EnrichmentRPL270.98
370Combined oxidative phosphorylation deficiency 35EnrichmentTRIT10.98
371Immunodeficiency 57 with autoinflammationEnrichmentSKIC20.98
37217q24.2 microdeletion syndromeEnrichmentPSMD120.98
373Diamond-blackfan anemia 17EnrichmentRPS270.98
374Congenital pontocerebellar hypoplasia type 1EnrichmentEXOSC30.98
375Galloway-mowat syndrome 3EnrichmentOSGEP0.98
376Familial isolated congenital aspleniaEnrichmentRPSA0.98
377Houge-janssens syndrome 3EnrichmentPPP2CA0.98
378Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomaliesEnrichmentSMG90.98
379Intellectual developmental disorder, autosomal dominant 58EnrichmentSET0.98
380Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeEnrichmentTRMT10A0.98
381Primary mediastinal large b-cell lymphomaEnrichmentXPO10.98
382Symmetrical dyschromatosis of extremitiesEnrichmentADAR0.98
383Hemolytic-uremic syndromeEnrichmentTSEN20.98
384Submucosal cleft palateEnrichmentUBB0.98
385Cleft hard palateEnrichmentUBB0.98
386Stereotypic movement disorderEnrichmentHNRNPH20.94
387Xeroderma pigmentosum, variant typeEnrichmentERCC2, ERCC30.93
388Inflammatory myofibroblastic tumorEnrichmentRANBP20.93
389Isolated growth hormone deficiency, type iaEnrichmentRNPC30.92
390Hirschsprung disease 1EnrichmentNUP98, POLR2F0.91
391Periventricular nodular heterotopiaEnrichmentDHX160.91
392Precursor t-cell acute lymphoblastic leukemiaEnrichmentCNOT3, NUP214, SET0.90
393Charge syndromeEnrichmentPUF600.89
394Bilateral perisylvian polymicrogyriaEnrichmentDDX230.89
395Mitochondrial dna depletion syndrome 4aEnrichmentRANBP20.86
396RhabdomyosarcomaEnrichmentDICER10.85
397Aplasia cutis congenita, nonsyndromicEnrichmentBMS10.81
398Right atrial isomerismEnrichmentUPF10.81
399Mitochondrial complex iv deficiency, nuclear type 5EnrichmentLRPPRC0.81
400Proteasome-associated autoinflammatory syndrome 1EnrichmentPSMB40.81
401Uvula, bifidEnrichmentUBB0.81
402Trichothiodystrophy 1, photosensitiveEnrichmentERCC20.81
403Dyskeratosis congenita, x-linkedEnrichmentDKC10.81
404Cleft soft palateEnrichmentUBB0.81
405Congenital disorder of glycosylation, type ipEnrichmentUTP14C0.81
406Congenital heart defects, multiple types, 6EnrichmentUPF10.81
407Spinocerebellar ataxia 36EnrichmentNOP560.81
408Pontocerebellar hypoplasia, type 1bEnrichmentEXOSC30.81
409Galloway-mowat syndrome 4EnrichmentTP53RK0.81
410Wieacker-wolff syndromeEnrichmentCCNH0.81
411Hydrolethalus syndromeEnrichmentPUS30.81
412Proteosome-associated autoinflammatory syndromeEnrichmentPSMB40.81
413Coenzyme q10 deficiency, primary, 7EnrichmentTRUB20.81
414Cerebellar diseaseEnrichmentEXOSC30.81
415Al-raqad syndromeEnrichmentDCPS0.81
416Macrocytic anemiaEnrichmentRPL170.81
417Advanced sleep phase syndromeEnrichmentCSNK1D0.81
418Galloway-mowat syndrome 10EnrichmentYRDC0.81
419Thyroid hemiagenesisEnrichmentPSMD30.81
420Protein-deficiency anemiaEnrichmentRPL11, RPS260.81
421Mitochondrial dna depletion syndrome 4bEnrichmentRANBP20.81
422Semilobar holoprosencephalyEnrichmentSMC1A0.81
423Diffuse large b-cell lymphomaEnrichmentSF3A10.79
424Pontocerebellar hypoplasia, type 4EnrichmentTSEN540.70
425PhenylketonuriaEnrichmentNSUN20.70
426Methylmalonic aciduria and homocystinuria, cbld typeEnrichmentTSEN540.70
427Myopathy, lactic acidosis, and sideroblastic anemia 1EnrichmentPUS10.70
428Anauxetic dysplasia 1EnrichmentPOP10.70
429CraniopharyngiomaEnrichmentERCC20.70
430Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentYWHAZ0.70
431AnencephalyEnrichmentPUS30.70
432Transposition of the great arteriesEnrichmentUPF10.70
433Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentDKC1, TSEN540.67
43446 xx gonadal dysgenesisEnrichmentNUP1070.65
435MicrocephalyEnrichmentCTU2, EXOSC3, GEMIN4, NSRP1, NUP188, PQBP1, PRORP, PSMC3, TSEN540.65
436Acute promyelocytic leukemiaEnrichmentFIP1L10.62
437Capillary malformations, congenitalEnrichmentCCNH0.61
438Neuronopathy, distal hereditary motor, autosomal dominant 2EnrichmentHSPB10.61
439Liver failure, infantile, transientEnrichmentTRMU0.61
440AmblyopiaEnrichmentTSEN540.61
441Pervasive developmental disorderEnrichmentPUS70.61
442PolyhydramniosEnrichmentPUS30.61
443HemangiomaEnrichmentRPL50.61
444Aplasia cutis congenitaEnrichmentBMS10.61
445Mitochondrial oxidative phosphorylation disorderEnrichmentMTO10.61
446Rare pervasive developmental disorderEnrichmentPUS70.61
447Seckel syndromeEnrichmentNUP850.59
448CakutEnrichmentDHX80.56
449Developmental dysplasia of the hip 1EnrichmentPSMC30.55
450Klippel-trenaunay-weber syndromeEnrichmentCCNH0.55
451Coloboma of optic nerveEnrichmentDHX370.55
452Cerebrooculofacioskeletal syndrome 1EnrichmentERCC20.55
453Telangiectasia, hereditary hemorrhagic, type 1EnrichmentCCNH0.55
454Hemangioma, capillary infantileEnrichmentCCNH0.55
455Basal cell carcinoma 1EnrichmentCCNH0.55
456Autosomal recessive intellectual developmental disorderEnrichmentNSUN20.55
457PancytopeniaEnrichmentRPL170.55
458Patent ductus arteriosusEnrichmentPSMC30.55
459Pulmonary fibrosisEnrichmentPARN0.55
460Breast adenocarcinomaEnrichmentAKT10.55
461Kallmann syndromeEnrichmentPOLR2F0.53
462Charcot-marie-tooth diseaseEnrichmentDHX90.49
463Capillary malformation-arteriovenous malformation 1EnrichmentCCNH0.49
464Hereditary hemorrhagic telangiectasiaEnrichmentCCNH0.49
465Focal segmental glomerulosclerosisEnrichmentNUP930.46
466Isolated split hand-split foot malformationEnrichmentSEM10.44
467Tooth agenesisEnrichmentRANBP20.43
468Inflammatory bowel disease 1EnrichmentERCC20.40
469Perrault syndrome 2EnrichmentPRORP0.40
470Arteriovenous malformationEnrichmentCCNH0.40
471Cowden syndromeEnrichmentAKT10.40
472Familial atrial fibrillationEnrichmentNUP1550.40
473Undetermined early-onset epileptic encephalopathyEnrichmentCELF20.39
474Leukemia, chronic lymphocyticEnrichmentRPS150.37
475Myopathy, x-linked, with excessive autophagyEnrichmentCCNH0.37
476Aplastic anemiaEnrichmentRPL50.37
477Aicardi-goutieres syndromeEnrichmentADAR0.37
478Mitochondrial encephalomyopathyEnrichmentSLIRP0.37
479Mitochondrial myopathy with reversible cytochrome c oxidase deficiencyEnrichmentTRMU0.37
480Differentiated thyroid carcinomaEnrichmentTPR0.34
481Atrial heart septal defectEnrichmentRPL50.34
48246,xy complete gonadal dysgenesisEnrichmentDHX370.34
483Interatrial communicationEnrichmentRPL50.34
484Familial colorectal cancer type xEnrichmentRPS200.34
485Benign epilepsy with centrotemporal spikesEnrichmentSNIP10.33
486Centralopathic epilepsyEnrichmentSNIP10.32
487EpicanthusEnrichmentRPL170.31
488Renal hypodysplasia/aplasia 3EnrichmentERI10.31
489MeningiomaEnrichmentAKT10.31
490Lactic acidosisEnrichmentPRORP0.31
491Primary autosomal recessive microcephalyEnrichmentNUP370.31
492Pulmonary hypertension, primary, 1EnrichmentRPL50.29
493Fetal akinesia deformation sequence 1EnrichmentNUP880.27
49446,xy partial gonadal dysgenesisEnrichmentDHX370.27
495Corpus callosum, agenesis ofEnrichmentERCC20.25
496Isolated corpus callosum agenesisEnrichmentERCC20.25
497Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentERCC20.25
498Male infertility with spermatogenesis disorderEnrichmentDHX370.25
499Perrault syndrome 1EnrichmentPRORP0.23
500Isolated congenital microcephalyEnrichmentTSEN150.23
501Nephrotic syndromeEnrichmentNUP930.22
502Interstitial lung disease 2EnrichmentPARN0.21
503Dandy-walker syndromeEnrichmentPUS30.21
504Ovarian cancerEnrichmentDICER10.21
505Congenital nervous system abnormalityEnrichmentSMC1A0.20
506Nervous system diseaseEnrichmentSMC1A0.20
507Patent foramen ovaleEnrichmentPSMC30.20
508Congenital myopathyEnrichmentEXOSC30.18
509Williams-beuren syndromeEnrichmentBUD230.17
510LissencephalyEnrichmentEXOSC30.16
511HepatoblastomaEnrichmentERCC20.16
512Rare genetic deafnessEnrichmentPOLR2F0.15
513Attention deficit-hyperactivity disorderEnrichmentRPL170.15
514Mitochondrial complex iv deficiency, nuclear type 1EnrichmentFASTKD20.15
515Myocardial infarctionEnrichmentPSMA60.15
516Inherited cancer-predisposing syndromeEnrichmentDICER10.15
517Colorectal cancerEnrichmentTCERG10.13
518Parkinson disease, late-onsetEnrichmentEIF4G10.13
519Developmental and epileptic encephalopathy 1EnrichmentCSNK1E0.12
520Autosomal dominant non-syndromic intellectual disabilityEnrichmentSET, YWHAZ0.12
521StrabismusEnrichmentUPF10.11
522Spastic ataxiaEnrichmentEXOSC8, MTPAP0.10
523Bladder cancerEnrichmentERCC20.10
524Prostate cancerEnrichmentELAC20.10
525Autism spectrum disorderEnrichmentPQBP10.09
526Myeloma, multipleEnrichmentDIS3, TRNT10.09
527Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentDHX37, RPL10L0.09
528Leigh syndrome, nuclearEnrichmentFASTKD2, FASTKD50.05
529Type 2 diabetes mellitusEnrichmentIGF2BP20.04
530AutismEnrichmentGSPT2, RPL170.04
531West syndromeEnrichmentCSNK1E0.04
532Hereditary breast carcinomaEnrichmentAKT10.04
533Leigh diseaseEnrichmentFASTKD2, FASTKD50.03
534Body mass index quantitative trait locus 11EnrichmentCDKAL10.03
535HypertelorismEnrichmentUPF10.02
536Familial isolated dilated cardiomyopathyEnrichmentRPL3L0.02
537Mitochondrial diseaseEnrichmentTRIT1, TRMT10C0.02
538Breast cancerEnrichmentAKT10.01
539Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentPNPT10.00

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