Transport of the SLBP independent Mature mRNA

Pathway network for the Transport of the SLBP independent Mature mRNA SuperPath

Sources:
  • Reactome
  • PubChem

Pathways in the Transport of the SLBP independent Mature mRNA SuperPath

#NameSourceGenes
1Transport of the SLBP independent Mature mRNAReactome
2SUMOylationReactome
3SUMO E3 ligases SUMOylate target proteinsReactome
4tRNA processingReactome
5SUMOylation of DNA damage response and repair proteinsReactome
6ISG15 antiviral mechanismReactome
7SUMOylation of chromatin organization proteinsReactome
8tRNA processing in the nucleusReactome
9snRNP AssemblyReactome
10Metabolism of non-coding RNAReactome
11Nuclear Envelope BreakdownReactome
12SUMOylation of RNA binding proteinsReactome
13tRNA modification in the nucleus and cytosolReactome
14SUMOylation of DNA replication proteinsReactome
15Viral Messenger RNA SynthesisReactome
16Transport of Mature mRNAs Derived from Intronless TranscriptsReactome
17Transport of Mature mRNA Derived from an Intronless TranscriptReactome
18NS1 Mediated Effects on Host PathwaysReactome
19SUMOylation of ubiquitinylation proteinsReactome
20Interactions of Rev with host cellular proteinsReactome
21Nuclear Pore Complex (NPC) DisassemblyReactome
22Transport of the SLBP Dependant Mature mRNAReactome
23Rev-mediated nuclear export of HIV RNAReactome
24SUMOylation of SUMOylation proteinsReactome
25Interactions of Vpr with host cellular proteinsReactome
26Nuclear import of Rev proteinReactome
27Export of Viral Ribonucleoproteins from NucleusReactome
28Vpr-mediated nuclear import of PICsReactome
29Transport of Ribonucleoproteins into the Host NucleusReactome
30Regulation of Glucokinase by Glucokinase Regulatory ProteinReactome
31Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)Reactome
32NEP/NS2 Interacts with the Cellular Export MachineryReactome
33Postmitotic nuclear pore complex (NPC) reformationReactome
34SUMOylation of transcription factorsReactome
35SUMOylation of DNA methylation proteinsReactome
36Depolymerization of the Nuclear LaminaReactome
37SUMOylation of immune response proteinsReactome
38tRNA modification in the mitochondrionReactome
39Processing and activation of SUMOReactome
40tRNA splicing IIPubChem
41Activation of NIMA Kinases NEK9, NEK6, NEK7Reactome
42SUMO is transferred from E1 to E2 (UBE2I, UBC9)Reactome
43SUMO is proteolytically processedReactome
44Synthesis of wybutosine at G37 of tRNA(Phe)Reactome
45tRNA processing in the mitochondrionReactome
46SUMO is conjugated to E1 (UBA2:SAE1)Reactome
47Inhibition of PKRReactome

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

Disorders associated with Transport of the SLBP independent Mature mRNA SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1InfluenzaDirect
2Human immunodeficiency virus infectious diseaseDirect
3Papillary carcinomaDirect
4Galloway-mowat syndromeEnrichmentGON7, LAGE3, NUP107, NUP133, OSGEP, TP53RK, TPRKB, WDR4, YRDC16.00
5Genetic steroid-resistant nephrotic syndromeEnrichmentNUP107, NUP133, NUP160, NUP205, NUP37, NUP85, NUP9316.00
6Pontocerebellar hypoplasia, type 2eEnrichmentTSEN15, TSEN2, TSEN34, TSEN5410.52
7Li-fraumeni syndromeEnrichmentCDKN2A, MDM2, TP537.26
8Galloway-mowat syndrome 1EnrichmentGON7, OSGEP, WDR46.47
9Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG, NFKBIA6.14
10Emery-dreifuss muscular dystrophy 1, x-linkedEnrichmentEMD, LMNA5.16
11Emery-dreifuss muscular dystrophyEnrichmentEMD, LMNA5.16
12Myeloma, multipleEnrichmentAURKA, CREBBP, DNMT3A, HDAC4, NCOR2, RXRA, TP535.02
13Cornelia de lange syndrome 1EnrichmentRAD21, SMC1A, SMC34.84
14Cornelia de lange syndromeEnrichmentRAD21, SMC1A, SMC34.84
15Familial infantile bilateral striatal necrosisEnrichmentNUP54, NUP624.64
16Tessadori-bicknell-van haaften neurodevelopmental syndrome 1EnrichmentH4C1, H4C34.57
17Tessadori-bicknell-van haaften neurodevelopmental syndrome 2EnrichmentH4C1, H4C114.57
18Adrenocortical carcinomaEnrichmentCDKN2A, TP534.51
19Microcephalic primordial dwarfism-insulin resistance syndromeEnrichmentNSMCE2, XRCC44.50
20B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentCDKN2A, TP534.36
21Spinal muscular atrophy, type iiiEnrichmentSMN1, SMN24.35
22Spinal muscular atrophy, type iEnrichmentSMN1, SMN24.35
23Spinal muscular atrophy, type iiEnrichmentSMN1, SMN24.35
24Spinal muscular atrophy, type ivEnrichmentSMN1, SMN24.35
25GliosarcomaEnrichmentDNMT3A, NFKBIA, PPARG, TP534.29
26Giant cell glioblastomaEnrichmentDNMT3A, NFKBIA, PPARG, TP534.18
27Pontocerebellar hypoplasiaEnrichmentTSEN2, TSEN544.13
28Tessadori-bicknell-van haaften neurodevelopmental syndrome 4EnrichmentH4C1, H4C94.09
29Tessadori-bicknell-van haaften neurodevelopmental syndrome 3EnrichmentH4C1, H4C54.09
30MelanomaEnrichmentCDKN2A, MITF4.03
31Lip and oral cavity carcinomaEnrichmentCDKN2A, TP533.87
32Spinal muscular atrophyEnrichmentSMN1, SMN23.83
33Neuromuscular diseaseEnrichmentEMD, LMNA3.76
34Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentEMD, LMNA3.71
35Ovarian cancerEnrichmentBLM, BRCA1, CDKN2A, WRN, XPC3.57
36Melanoma, cutaneous malignant 1EnrichmentCDKN2A, MITF3.56
3746,xy complete gonadal dysgenesisEnrichmentAR, CBX2, NR5A13.43
38Hsd10 mitochondrial diseaseEnrichmentHSD17B103.43
39Combined oxidative phosphorylation deficiency 30EnrichmentTRMT10C3.43
40Syndromic x-linked intellectual disability type 10EnrichmentHSD17B103.43
41Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delayEnrichmentTRNT13.43
42Prostate cancer, hereditary, 2EnrichmentELAC23.43
43Combined oxidative phosphorylation deficiency 17EnrichmentELAC23.43
44Retinitis pigmentosa and erythrocytic microcytosisEnrichmentTRNT13.43
45Congenital sideroblastic anemia-b-cell immunodeficiency-periodic fever-developmental delay syndromeEnrichmentTRNT13.43
46Orofacial cleft 10EnrichmentSUMO13.43
47Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delayEnrichmentTRMT53.35
48Wiedemann-steiner syndromeEnrichmentSMC1A, SMC33.33
49Arthrogryposis, perthes disease, and upward gaze palsyEnrichmentNEK93.29
50Nevus comedonicusEnrichmentNEK93.29
51Lethal congenital contracture syndrome 10EnrichmentNEK93.29
52Nasopharyngeal carcinomaEnrichmentNFKBIA, TP533.27
53Pancreatic cancerEnrichmentCDKN2A, TP533.22
54Acute promyelocytic leukemiaEnrichmentNPM1, PML, RARA3.20
55Intellectual developmental disorder, autosomal recessive 2EnrichmentTRNT13.13
56Combined oxidative phosphorylation deficiency 54EnrichmentPRORP3.13
57Chromosome 19q13.11 deletion syndrome, distalEnrichmentUBA23.13
58Pontocerebellar hypoplasia, type 2aEnrichmentTSEN543.13
59Pontocerebellar hypoplasia, type 2bEnrichmentTSEN23.13
60Pontocerebellar hypoplasia, type 2cEnrichmentTSEN343.13
61Pontocerebellar hypoplasia, type 2fEnrichmentTSEN153.13
62Pontocerebellar hypoplasia, type 5EnrichmentTSEN543.13
63Tsen54 pontocerebellar hypoplasiaEnrichmentTSEN543.13
64Combined oxidative phosphorylation deficiency 10EnrichmentMTO13.09
65Combined oxidative phosphorylation deficiency 23EnrichmentGTPBP33.09
66Deafness, aminoglycoside-inducedEnrichmentTRMU3.09
67Myopathy, lactic acidosis, and sideroblastic anemiaEnrichmentPUS13.09
68Bladder cancerEnrichmentCDKN2A, TP533.09
69Incontinentia pigmentiEnrichmentIKBKG3.05
70Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG3.05
71Leukoencephalopathy, developmental delay, and episodic neurologic regression syndromeEnrichmentEIF2AK23.05
72Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG3.05
73Retinitis pigmentosa 31EnrichmentTOPORS3.05
74Deficiency in anterior pituitary function - variable immunodeficiency syndromeEnrichmentNFKB23.05
75Dystonia 33EnrichmentEIF2AK23.05
76Inherited cancer-predisposing syndromeEnrichmentCDKN2A, MITF, TP533.04
77Rare genetic intellectual disabilityEnrichmentCREBBP, DNMT3A, EP3003.01
78Au-kline syndromeEnrichmentHNRNPK, VHL2.97
79Aplasia cutis congenita, nonsyndromicEnrichmentUBA22.96
80Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typicalEnrichmentLMNB12.96
81Buschke-ollendorff syndromeEnrichmentLEMD32.96
82Teeth, supernumeraryEnrichmentLEMD22.96
83Marbach-rustad progeroid syndromeEnrichmentLEMD22.96
84Adult onset demyelinating leukodystrophyEnrichmentLMNB12.96
85Majeed syndromeEnrichmentLPIN22.96
86Microcephaly 26, primary, autosomal dominantEnrichmentLMNB12.96
87Atypical werner syndromeEnrichmentLMNA2.96
88Melorheostosis with osteopoikilosisEnrichmentLEMD32.96
89Mandibuloacral dysplasiaEnrichmentLMNA2.96
90Atrioventricular blockEnrichmentLMNA2.96
91Lmna-related cardiocutaneous progeria syndromeEnrichmentLMNA2.96
92Isolated osteopoikilosisEnrichmentLEMD32.96
93Autosomal semi-dominant severe lipodystrophic laminopathyEnrichmentLMNA2.96
94Autosomal recessive axonal hereditary motor and sensory neuropathyEnrichmentLMNA2.96
95LaminopathyEnrichmentLMNA2.96
96Colorectal cancerEnrichmentAURKA, BLM, BRCA1, EP300, PPARG, TP532.94
9746,xy sex reversal 5EnrichmentCBX22.90
98Microcephaly 11, primary, autosomal recessiveEnrichmentPHC12.90
99Luo-schoch-yamamoto syndromeEnrichmentRNF22.90
100Heyn-sproul-jackson syndromeEnrichmentDNMT3A2.90
101Turnpenny-fry syndromeEnrichmentPCGF22.90
102Tooth agenesisEnrichmentRANBP2, SUMO12.86
103Complex neurodevelopmental disorderEnrichmentH4C3, H4C5, H4C9, HNRNPC, NR4A2, RNF2, RORA2.84
104Hemolytic-uremic syndromeEnrichmentTSEN22.83
105Blepharophimosis, ptosis, and epicanthus inversusEnrichmentFOXL22.83
106Char syndromeEnrichmentTFAP2B2.83
107Heterochromia iridisEnrichmentMITF2.83
108Tietz albinism-deafness syndromeEnrichmentMITF2.83
109Accelerated tumor formationEnrichmentMDM22.83
110Lessel-kubisch syndromeEnrichmentMDM22.83
111Bone marrow failure syndrome 5EnrichmentTP532.83
112Papilloma of choroid plexusEnrichmentTP532.83
113Basal cell carcinoma 7EnrichmentTP532.83
114Anaplastic thyroid carcinomaEnrichmentTP532.83
115Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafnessEnrichmentMITF2.83
116Ductal carcinoma in situEnrichmentTP532.83
117Patent ductus arteriosus 2EnrichmentTFAP2B2.83
118Thyroid gland undifferentiated carcinomaEnrichmentTP532.83
119Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP532.83
120Cdkn2a cancer predispositionEnrichmentCDKN2A2.83
121Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP532.83
122Choroid plexus cancerEnrichmentTP532.83
123Pleomorphic xanthoastrocytomaEnrichmentTP532.83
124Familial isolated dilated cardiomyopathyEnrichmentLMNA, TMPO2.82
125Combined oxidative phosphorylation deficiency 35EnrichmentTRIT12.79
126Immunodeficiency 33EnrichmentIKBKG2.75
127Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA2.75
128Immunodeficiency, common variable, 10EnrichmentNFKB22.75
129Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA2.75
130Rela fusion-positive ependymomaEnrichmentRELA2.75
131Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG2.75
132Gastric cancerEnrichmentCDKN2A, TP532.75
133Aplasia cutis congenitaEnrichmentUBA22.73
134Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrimaEnrichmentNDC12.70
135Atrial fibrillation, familial, 15EnrichmentNUP1552.70
136Dystonia 37, early-onset, with striatal lesionsEnrichmentNUP542.70
137Nephrotic syndrome, type 19EnrichmentNUP1602.70
138Galloway-mowat syndrome 8EnrichmentNUP1332.70
139Nephrotic syndrome, type 13EnrichmentNUP2052.70
140Microcephaly 24, primary, autosomal recessiveEnrichmentNUP372.70
141Galloway-mowat syndrome 7EnrichmentNUP1072.70
142Nephrotic syndrome, type 12EnrichmentNUP932.70
143Nephrotic syndrome, type 11EnrichmentNUP1072.70
144Sandestig-stefanova syndromeEnrichmentNUP1882.70
145Ovarian dysgenesis 6EnrichmentNUP1072.70
146Nephrotic syndrome, type 18EnrichmentNUP1332.70
147Infection-induced acute-onset axonal neuropathyEnrichmentRCC12.70
148Diffuse large b-cell lymphomaEnrichmentCREBBP, DNMT3A, TP532.70
149Leukemia, acute myeloidEnrichmentDNMT3A, NPM1, NUP214, TP532.70
150Mitochondrial diseaseEnrichmentTRIT1, TRMT10C2.67
151Cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathyEnrichmentLEMD22.66
152Mandibuloacral dysplasia with type a lipodystrophyEnrichmentLMNA2.66
153Myopathy, x-linked, with postural muscle atrophyEnrichmentEMD2.66
154Heart-hand syndrome, slovenian typeEnrichmentLMNA2.66
155Charcot-marie-tooth disease, axonal, type 2b1EnrichmentLMNA2.66
156Cardiomyopathy, dilated, with hypergonadotropic hypogonadismEnrichmentLMNA2.66
157Cardiomyopathy, dilated, 1dEnrichmentLMNA2.66
158Restrictive dermopathy 2EnrichmentLMNA2.66
159Emery-dreifuss muscular dystrophy 3, autosomal recessiveEnrichmentLMNA2.66
160Cataract 46 juvenile-onsetEnrichmentLEMD22.66
161Lipodystrophy, familial partial, type 1EnrichmentLMNA2.66
162OsteopoikilosisEnrichmentLEMD32.66
163Autosomal dominant primary microcephalyEnrichmentLMNB12.66
164Familial partial lipodystrophyEnrichmentLMNA2.66
16512q14 microdeletion syndromeEnrichmentLEMD32.66
166Charcot-marie-tooth disease type 2b1EnrichmentLMNA2.66
167X-linked emery-dreifuss muscular dystrophyEnrichmentEMD2.66
168Maturity-onset diabetes of the young, type 2EnrichmentGCK2.64
169Fetal akinesia deformation sequence 4EnrichmentNUP882.64
170Hyperinsulinemic hypoglycemia, familial, 3EnrichmentGCK2.64
171Fasting plasma glucose level quantitative trait locus 5EnrichmentGCKR2.64
172Encephalopathy, acute, infection-induced 9EnrichmentNUP2142.64
173Intellectual developmental disorder, autosomal recessive 79EnrichmentTPR2.64
174Gestational diabetesEnrichmentGCK2.64
175Familial acute necrotizing encephalopathyEnrichmentRANBP22.64
176Galloway-mowat syndrome 10EnrichmentYRDC2.61
177Immunodeficiency-centromeric instability-facial anomalies syndrome 1EnrichmentDNMT3B2.60
178Facioscapulohumeral muscular dystrophy 4, digenicEnrichmentDNMT3B2.60
179Cerebellar ataxia, deafness, and narcolepsy, autosomal dominantEnrichmentDNMT12.60
180Tatton-brown-rahman syndromeEnrichmentDNMT3A2.60
181Autism 19EnrichmentEIF4E2.60
182Goldberg-shprintzen syndromeEnrichmentNEK92.59
183Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3002.58
184Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3002.58
185Sporadic pheochromocytoma/secreting paragangliomaEnrichmentDNMT3A, VHL2.58
186Torsion dystonia 1EnrichmentEIF2AK22.58
187Retinal hemangioblastomaEnrichmentVHL2.55
188Hereditary breast carcinomaEnrichmentBLM, BRCA1, ESR1, TP532.54
189Hereditary breast ovarian cancer syndromeEnrichmentMITF, TP532.53
190Pontocerebellar hypoplasia, type 4EnrichmentTSEN542.53
191Methylmalonic aciduria and homocystinuria, cbld typeEnrichmentTSEN542.53
192Melanoma-astrocytoma syndromeEnrichmentCDKN2A2.53
193Adrenocortical carcinoma, hereditaryEnrichmentTP532.53
194Cervical cancerEnrichmentTP532.53
195Premature ovarian failure 3EnrichmentFOXL22.53
196Melanoma, cutaneous malignant 2EnrichmentCDKN2A2.53
197Lymphoma, hodgkin, classicEnrichmentTP532.53
198Melanoma, cutaneous malignant 8EnrichmentMITF2.53
199Microcephaly and chorioretinopathy, autosomal recessive, 3EnrichmentTP53BP12.53
200Melanoma-pancreatic cancer syndromeEnrichmentCDKN2A2.53
201Papillary renal cell carcinomaEnrichmentMITF2.53
202Congenital fibrosarcomaEnrichmentTP532.53
203Li-fraumeni syndrome 1EnrichmentTP532.53
204SarcomaEnrichmentTP532.53
205Cervix carcinomaEnrichmentTP532.53
206Hodgkin's lymphomaEnrichmentTP532.53
207EsotropiaEnrichmentTFAP2A2.53
208Microcephaly and chorioretinopathy 3EnrichmentTP53BP12.53
209Malignant granulosa cell tumor of the ovaryEnrichmentFOXL22.53
210Lens subluxationEnrichmentTFAP2A2.53
211Familial patent arterial ductEnrichmentTFAP2B2.53
212Pleomorphic rhabdomyosarcomaEnrichmentTP532.53
213Differentiated thyroid carcinomaEnrichmentTPR, TRIM272.53
214Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizuresEnrichmentCPSF32.52
215Myopathy, lactic acidosis, and sideroblastic anemia 1EnrichmentPUS12.49
216Perrault syndrome 2EnrichmentPRORP2.48
217Restrictive dermopathy 1EnrichmentLMNA2.48
218Myoglobinuria, acute recurrent, autosomal recessiveEnrichmentLPIN12.48
219Lipodystrophy, familial partial, type 2EnrichmentLMNA2.48
220Muscular dystrophy, congenital, lmna-relatedEnrichmentLMNA2.48
221Restrictive dermopathyEnrichmentLMNA2.48
222Intellectual developmental disorder, x-linked 9EnrichmentFTSJ12.48
223Microcephaly, short stature, and impaired glucose metabolism 1EnrichmentTRMT10A2.48
224Intellectual developmental disorder, autosomal recessive 71EnrichmentALKBH82.48
225Intellectual developmental disorder with abnormal behavior, microcephaly, and short statureEnrichmentPUS72.48
226Microcephaly, growth deficiency, seizures, and brain malformationsEnrichmentWDR42.48
227Galloway-mowat syndrome 6EnrichmentWDR42.48
228Intellectual developmental disorder, autosomal recessive 68EnrichmentTRMT12.48
229Intellectual developmental disorder, autosomal recessive 82EnrichmentNSUN62.48
230Galloway-mowat syndrome 5EnrichmentTPRKB2.48
231Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndromeEnrichmentCTU22.48
232Leukodystrophy, hypomyelinating, 15EnrichmentEPRS12.48
233Galloway-mowat syndrome 9EnrichmentGON72.48
234B-cell immunodeficiency, distal limb anomalies, and urogenital malformationsEnrichmentTOP2B2.48
235Ataxia-telangiectasia-like disorder 2EnrichmentPCNA2.48
236Dilated cardiomyopathyEnrichmentEMD, LMNA2.46
237Intellectual developmental disorder, autosomal dominant 74EnrichmentHNRNPC2.46
238Immunodeficiency, common variable, 1EnrichmentNFKB22.45
239Autism spectrum disorderEnrichmentDNMT3A, NR3C2, NR4A2, SATB2, SMC3, TOP2B2.45
240AmblyopiaEnrichmentTSEN542.43
241Neuropathy, hereditary sensory, type ieEnrichmentDNMT12.43
242Nestor-guillermo progeria syndromeEnrichmentBANF12.42
243Neuronopathy, distal hereditary motor, autosomal recessive 10EnrichmentVRK12.42
244Microcephaly-complex motor and sensory axonal neuropathy syndromeEnrichmentVRK12.42
245Neurodevelopmental disorder with cerebellar atrophy and motor dysfunctionEnrichmentGEMIN52.41
246Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalitiesEnrichmentGEMIN42.41
247Muscular dystrophy, limb-girdle, autosomal recessive 29EnrichmentSNUPN2.41
248Striatonigral degeneration, infantileEnrichmentNUP622.40
249Nephronophthisis-like nephropathy 1EnrichmentRANGAP12.40
250Nephrotic syndrome, type 17EnrichmentNUP852.40
251Liver failure, infantile, transientEnrichmentTRMU2.39
252Mitochondrial oxidative phosphorylation disorderEnrichmentMTO12.39
253Intellectual developmental disorder, x-linked 113EnrichmentCSTF22.38
254Anauxetic dysplasia 2EnrichmentPOP12.38
255Pontocerebellar hypoplasia, type 10EnrichmentCLP12.38
256Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG2.35
257Lactic acidosisEnrichmentPRORP2.35
258Hutchinson-gilford progeria syndromeEnrichmentLMNA2.35
259Microtia-anotiaEnrichmentLMNA2.35
260Hereditary recurrent myoglobinuriaEnrichmentLPIN12.35
261Sick sinus syndromeEnrichmentLMNA2.35
262Waardenburg syndrome, type 2aEnrichmentMITF2.35
263Osteogenic sarcomaEnrichmentTP532.35
264Miller-dieker lissencephaly syndromeEnrichmentHIC12.35
265Dedifferentiated liposarcomaEnrichmentMDM22.35
266Atypical teratoid rhabdoid tumorEnrichmentTP532.35
267Anaplastic astrocytomaEnrichmentTP532.35
268Squamous cell carcinomaEnrichmentTP532.35
269AdenocarcinomaEnrichmentTP532.35
270Bone osteosarcomaEnrichmentTP532.35
271Well-differentiated liposarcomaEnrichmentMDM22.35
272Maturity-onset diabetes of the young, type 1EnrichmentGCK2.34
273Camptodactyly-arthropathy-coxa vara-pericarditis syndromeEnrichmentTPR2.34
274Diabetes mellitus, permanent neonatal, 1EnrichmentGCK2.34
275Bone marrow failure syndrome 2EnrichmentGCK2.34
276Acute myeloid leukemia with t(6;9) (p23;q34.1)EnrichmentNUP2142.34
277Acute necrotizing encephalopathy of childhoodEnrichmentRANBP22.34
278Semilobar holoprosencephalyEnrichmentSMC1A, STAG22.34
279Difference of sex developmentEnrichmentAR, NR5A12.32
280Developmental delay with dysmorphic facies and dental anomaliesEnrichmentSATB12.28
281Chromosome 2q37 deletion syndromeEnrichmentHDAC42.28
282Imagawa-matsumoto syndromeEnrichmentSUZ122.28
283Neurodevelopmental disorder with central hypotonia and dysmorphic faciesEnrichmentHDAC42.28
284Den hoed-de boer-voisin syndromeEnrichmentSATB12.28
285Intellectual disability-acpilepsy-dental anomalies-facial dysmorphism syndromeEnrichmentSATB12.28
286Boomerang dysplasiaEnrichmentFLNB2.27
287Robin sequence with cleft mandible and limb anomaliesEnrichmentEIF4A32.27
288Atelosteogenesis, type iiiEnrichmentFLNB2.27
289Atelosteogenesis, type iEnrichmentFLNB2.27
290Parkinson disease 18, autosomal dominantEnrichmentEIF4G12.27
291Immunodeficiency 38 with basal ganglia calcificationEnrichmentISG152.27
292Encephalopathy, acute, infection-induced 7EnrichmentIRF32.27
293Oocyte/zygote/embryo maturation arrest 17EnrichmentKPNA72.27
294Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG12.27
295Immunodeficiency 31aEnrichmentSTAT12.27
296Neurodevelopmental disorder with hypotonia and speech delay, with or without seizuresEnrichmentEIF4A22.27
297Immunodeficiency 31bEnrichmentSTAT12.27
298Singleton-merten syndrome 2EnrichmentRIGI2.27
299Pseudo-torch syndrome 2EnrichmentUSP182.27
300Spastic paraplegia 88, autosomal dominantEnrichmentKPNA32.27
301Flnb-related disordersEnrichmentFLNB2.27
302Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiencyEnrichmentJAK12.27
303Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndromeEnrichmentKPNA72.27
304Primary autosomal recessive microcephalyEnrichmentNUP37, PHC12.26
305Cataract 6, multiple typesEnrichmentLEMD22.26
306Autosomal recessive limb-girdle muscular dystrophy type 2bEnrichmentLMNA2.26
307Histiocytoid hemangiomaEnrichmentLMNA2.26
308Acute leukemia of ambiguous lineageEnrichmentVHL2.25
309Palmoplantar keratoderma, punctate type iiEnrichmentBRCA12.25
310Bloom syndromeEnrichmentBLM2.25
311Developmental and epileptic encephalopathy 85 with or without midline brain defectsEnrichmentSMC1A2.25
312Holoprosencephaly 13, x-linkedEnrichmentSTAG22.25
313Cornelia de lange syndrome 3 with or without midline brain defectsEnrichmentSMC32.25
314Seckel syndrome 10EnrichmentNSMCE22.25
315Cornelia de lange syndrome 4 with or without midline brain defectsEnrichmentRAD212.25
316Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 6EnrichmentRPA12.25
317Mullegama-klein-martinez syndromeEnrichmentSTAG22.25
318Infant-type hemispheric gliomaEnrichmentBRCA12.25
319Riddle syndromeEnrichmentRNF1682.25
320Intellectual developmental disorder, autosomal dominant 47EnrichmentSTAG12.25
321Mungan syndromeEnrichmentRAD212.25
322Intellectual developmental disorder, autosomal recessive 38EnrichmentHERC22.25
323Xq25 microduplication syndromeEnrichmentSTAG22.25
324Atelis syndrome 2EnrichmentSMC52.25
325Primary peritoneal carcinomaEnrichmentBRCA12.25
326Perrault syndrome 1EnrichmentPRORP2.23
327Branchiooculofacial syndromeEnrichmentTFAP2A2.23
328Small cell cancer of the lungEnrichmentTP532.23
329Thyroid cancer, nonmedullary, 1EnrichmentTP532.23
330BlepharophimosisEnrichmentFOXL22.23
331Lung sarcomatoid carcinomaEnrichmentTP532.23
332Embryonal rhabdomyosarcomaEnrichmentTP532.23
333Autosomal recessive chorioretinopathy-microcephaly syndromeEnrichmentTP53BP12.23
334Clear cell papillary renal cell carcinomaEnrichmentMITF2.23
335Neurodevelopmental disorder with hypotonia, microcephaly, and seizuresEnrichmentCPSF32.22
336Myopia 27, autosomal dominantEnrichmentCPSF12.22
337Chronic eosinophilic leukemiaEnrichmentFIP1L12.22
338Primary hyperaldosteronismEnrichmentNR3C1, TP532.21
339Common variable immunodeficiencyEnrichmentNFKB22.21
340Endometrial cancerEnrichmentBLM, BRCA12.21
341Myeloproliferative neoplasmEnrichmentDNMT3A2.20
342GlioblastomaEnrichmentDNMT3A2.20
343Emery-dreifuss muscular dystrophy 2, autosomal dominantEnrichmentLMNA2.18
344Galloway-mowat syndrome 2, x-linkedEnrichmentLAGE32.18
345Intellectual developmental disorder, autosomal recessive 5EnrichmentNSUN22.18
346Dubowitz syndromeEnrichmentNSUN22.18
347Hydrolethalus syndrome 1EnrichmentPUS32.18
348Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic faciesEnrichmentADAT32.18
349Neurodevelopmental disorder with microcephaly and gray scleraeEnrichmentPUS32.18
350Spinocerebellar ataxia, autosomal recessive 28EnrichmentTHG1L2.18
351Galloway-mowat syndrome 3EnrichmentOSGEP2.18
352Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeEnrichmentTRMT10A2.18
353Prostate cancerEnrichmentAR, BRCA1, TP532.17
354Nijmegen breakage syndromeEnrichmentGCK2.16
355Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentRANBP22.16
356Rhabdomyosarcoma 2EnrichmentTP532.13
357LymphomaEnrichmentTP532.13
358Acute megakaryocytic leukemiaEnrichmentTP532.13
359Precursor t-cell acute lymphoblastic leukemiaEnrichmentCDKN2A, NUP2142.13
360Facioscapulohumeral muscular dystrophy 1EnrichmentDNMT3B2.13
361Immunodeficiency-centromeric instability-facial anomalies syndromeEnrichmentDNMT3B2.13
362Pontocerebellar hypoplasia, type 1aEnrichmentVRK12.12
363Congenital pontocerebellar hypoplasia type 1EnrichmentVRK12.12
364Bethlem myopathy 1aEnrichmentLMNA2.11
365Cerebrocostomandibular syndromeEnrichmentSNRPB2.11
366Hypotrichosis 11EnrichmentSNRPE2.11
367Coronary heart disease 5EnrichmentIKBKG2.10
368Mitochondrial myopathy with reversible cytochrome c oxidase deficiencyEnrichmentTRMU2.09
369Rare mitochondrial non-syndromic sensorineural deafnessEnrichmentTRMU2.09
370Myasthenic syndrome, congenital, 6, presynapticEnrichmentVHL2.08
371Primary polycythemiaEnrichmentVHL2.08
372Hereditary sensory and autonomic neuropathy type 1EnrichmentDNMT12.06
373Congenital muscular dystrophyEnrichmentLMNA2.05
374MyocarditisEnrichmentLMNA2.05
375Branchiootorenal syndrome 1EnrichmentTFAP2A2.05
376Waardenburg syndrome, type 4aEnrichmentMITF2.05
377Intestinal pseudo-obstructionEnrichmentTFAP2B2.05
378Breast adenocarcinomaEnrichmentTP532.05
379Lung squamous cell carcinomaEnrichmentCDKN2A2.05
380Waardenburg syndromeEnrichmentMITF2.05
381Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentRANBP22.04
382Achalasia-addisonianism-alacrima syndromeEnrichmentAAAS2.04
383Maturity-onset diabetes of the young, type 3EnrichmentGCK2.04
384Ectodermal dysplasiaEnrichmentRANBP22.04
385Orofaciodigital syndrome viEnrichmentTOPORS2.01
386Arrhythmogenic right ventricular dysplasia, familial, 9EnrichmentLMNA2.00
387Galloway-mowat syndrome 4EnrichmentTP53RK2.00
388Hydrolethalus syndromeEnrichmentPUS32.00
389Esophageal cancerEnrichmentTP531.99
390Waardenburg syndrome, type 1EnrichmentMITF1.99
391Squamous cell carcinoma, head and neckEnrichmentTP531.99
392Waardenburg syndrome, type 2eEnrichmentMITF1.99
393Branchiootorenal syndromeEnrichmentTFAP2A1.99
394Essential thrombocythemiaEnrichmentTP531.99
395Gallbladder cancerEnrichmentTP531.99
396Hyperaldosteronism, familial, type iiEnrichmentSATB11.98
397Snijders blok-campeau syndromeEnrichmentCHD31.98
398Immunodeficiency 31cEnrichmentSTAT11.97
399Spastic paraplegia 37, autosomal dominantEnrichmentKPNA31.97
400Autoinflammation, immune dysregulation, and eosinophiliaEnrichmentJAK11.97
401Singleton-merten syndromeEnrichmentRIGI1.97
402Submucosal cleft palateEnrichmentUBB1.97
403Cleft hard palateEnrichmentUBB1.97
40446 xx gonadal dysgenesisEnrichmentNR5A1, NUP1071.96
405Erythrocytosis, familial, 2EnrichmentVHL1.95
406Skin/hair/eye pigmentation, variation in, 1EnrichmentHERC21.95
407Xeroderma pigmentosum, complementation group cEnrichmentXPC1.95
408Cornelia de lange syndrome 2EnrichmentSMC1A1.95
409Lig4 syndromeEnrichmentXRCC41.95
410Lung disease, immunodeficiency, and chromosome breakage syndromeEnrichmentNSMCE31.95
411Xeroderma pigmentosum, complementation group aEnrichmentXPC1.95
412Fanconi anemia, complementation group sEnrichmentBRCA11.95
413Werner syndromeEnrichmentWRN1.95
414Pancreatic cancer 4EnrichmentBRCA11.95
415Short stature, microcephaly, and endocrine dysfunctionEnrichmentXRCC41.95
416Inflammatory breast carcinomaEnrichmentBRCA11.95
417Xeroderma pigmentosum group cEnrichmentXPC1.95
418Peritoneum cancerEnrichmentBRCA11.95
419Bilateral breast cancerEnrichmentBRCA11.95
420Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominantEnrichmentRANBP21.94
421Autosomal recessive hypohidrotic ectodermal dysplasia syndromeEnrichmentRANBP21.94
422Pontocerebellar hypoplasia, type 1bEnrichmentVRK11.94
423Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentTSEN541.93
424Isolated congenital microcephalyEnrichmentTSEN151.93
425Glioma susceptibility 1EnrichmentTP531.93
426Lymphoma, non-hodgkin, familialEnrichmentTP531.93
427Autosomal recessive non-syndromic intellectual disabilityEnrichmentALKBH8, NSUN2, TPR1.93
428Cardiac conduction defectEnrichmentLMNA1.88
429Muscular dystrophy, limb-girdle, autosomal recessive 2EnrichmentLMNA1.88
430Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentLMNA1.88
431Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentLMNA1.88
432Adult hepatocellular carcinomaEnrichmentTP531.88
433PhenylketonuriaEnrichmentNSUN21.88
434AnencephalyEnrichmentPUS31.88
435Prostate cancer, hereditary, x-linked 3EnrichmentAR1.87
436Androgen insensitivity, partialEnrichmentAR1.87
437Glucocorticoid resistance, generalizedEnrichmentNR3C11.87
43846,xx sex reversal 4EnrichmentNR5A11.87
439Spermatogenic failure 8EnrichmentNR5A11.87
440Progesterone resistanceEnrichmentPGR1.87
441Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancyEnrichmentNR3C21.87
442Parkinson disease 7, autosomal recessive early-onsetEnrichmentPARK71.87
443Premature ovarian failure 7EnrichmentNR5A11.87
444Cholestasis, progressive familial intrahepatic, 5EnrichmentNR1H41.87
445Congenital anomalies of kidney and urinary tract 3EnrichmentNRIP11.87
446Menke-hennekam syndrome 1EnrichmentCREBBP1.87
447Intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonismEnrichmentNR4A21.87
448Pparg-associated congenital generalized lipodystrophyEnrichmentPPARG1.87
449Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP1.87
450RicketsEnrichmentVDR1.87
451Chromosome 15q24 deletion syndromeEnrichmentSIN3A1.87
452Pseudohyperaldosteronism type 2EnrichmentNR3C21.87
453Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alphaEnrichmentTHRA1.87
454Acute myeloid leukemia with multilineage dysplasiaEnrichmentNPM11.87
455Acute myeloid leukemia with npm1 somatic mutationsEnrichmentNPM11.87
456Wilms tumor 7EnrichmentTRIM281.87
457Complete androgen insensitivity syndromeEnrichmentAR1.87
458Menke-hennekam syndromeEnrichmentCREBBP1.87
459Resistance to thyroid hormone due to a mutation in thyroid hormone receptor betaEnrichmentTHRB1.87
460Generalized resistance to thyroid hormoneEnrichmentTHRB1.87
461Hyperinsulinemic hypoglycemia, familial, 1EnrichmentGCK1.87
462Inflammatory myofibroblastic tumorEnrichmentRANBP21.87
463Nonsyndromic genetic hyperinsulinismEnrichmentGCK1.87
464Specific learning disabilityEnrichmentDNMT3A1.86
465Fanconi anemia, complementation group d2EnrichmentVHL1.86
466Von hippel-lindau syndromeEnrichmentVHL1.86
467Cat eye syndromeEnrichmentTFAP2A1.83
468Leukemia, chronic lymphocyticEnrichmentTP531.83
469Familial colorectal cancerEnrichmentTP531.83
470Primary hypereosinophilic syndromeEnrichmentFIP1L11.82
471Charcot-marie-tooth hereditary neuropathyEnrichmentVRK11.82
472Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentLMNA1.81
473Weaver syndromeEnrichmentSUZ121.81
474Glass syndromeEnrichmentSATB21.81
475Mitochondrial dna depletion syndrome 4aEnrichmentRANBP21.80
476Larsen syndromeEnrichmentFLNB1.79
477Uvula, bifidEnrichmentUBB1.79
478Spondylocarpotarsal synostosis syndromeEnrichmentFLNB1.79
479Cleft soft palateEnrichmentUBB1.79
480Heparin cofactor ii deficiencyEnrichmentEIF4G31.79
481Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK11.79
482Leukemia, acute lymphoblasticEnrichmentCDKN2A1.79
483Myelodysplastic syndromeEnrichmentTP531.79
484Pervasive developmental disorderEnrichmentPUS71.78
485PolyhydramniosEnrichmentPUS31.78
486Rare pervasive developmental disorderEnrichmentPUS71.78
487Anauxetic dysplasia 1EnrichmentPOP11.78
488Pituitary stalk interruption syndromeEnrichmentDNMT11.76
489Arrhythmogenic right ventricular cardiomyopathyEnrichmentLMNA1.76
490EpicanthusEnrichmentTFAP2A1.76
491Mitochondrial dna depletion syndrome 4bEnrichmentRANBP21.74
492Permanent neonatal diabetes mellitusEnrichmentGCK1.74
493MicrocephalyEnrichmentCTU2, NUP188, PRORP, TSEN541.74
494Breast cancerEnrichmentBLM, BRCA1, ESR1, TP531.73
495Cardiomyopathy, dilated, 1eEnrichmentLMNA1.73
496Cataract 44EnrichmentLEMD21.73
497RhabdomyosarcomaEnrichmentBRCA1, TP531.72
498Renal cell carcinoma, papillary, 1EnrichmentVHL1.71
499Multiple enchondromatosis, maffucci typeEnrichmentVHL1.71
500Autosomal recessive intellectual developmental disorderEnrichmentNSUN21.70
501MalariaEnrichmentIKBKG1.70
502Lung cancer susceptibility 3EnrichmentTP531.69
503Arteriovenous malformations of the brainEnrichmentLEMD31.68
5042p21 microdeletion syndromeEnrichmentPPM1B1.67
505Trichorhinophalangeal syndrome, type iiEnrichmentRAD211.65
506Polyposis syndrome, hereditary mixed, 1EnrichmentBRCA11.65
507CholangiocarcinomaEnrichmentBRCA11.65
508Pontocerebellar hypoplasia, type 1eEnrichmentVRK11.64
509Cardiomyopathy, dilated, 1aEnrichmentLMNA1.64
510Pierre robin syndromeEnrichmentSNRPB1.63
511Diabetes mellitusEnrichmentGCK1.60
512Endometrial stromal sarcomaEnrichmentSUZ121.59
513Cardiomyopathy, familial hypertrophic, 1EnrichmentLMNA1.58
514Autoinflammatory diseaseEnrichmentLPIN21.58
515Muscular dystrophyEnrichmentLMNA1.58
516Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1EnrichmentPARK71.57
517Thyroid hormone resistance, selective pituitaryEnrichmentTHRB1.57
518Galactosemia iiEnrichmentNR3C11.57
519Thyroid hormone resistance, generalized, autosomal dominantEnrichmentTHRB1.57
520Thumb deformityEnrichmentCREBBP1.57
521Spinal and bulbar muscular atrophy, x-linked 1EnrichmentAR1.57
522Carotid intimal medial thickness 1EnrichmentPPARG1.57
523Thyroid hormone resistance, generalized, autosomal recessiveEnrichmentTHRB1.57
524Pseudohypoaldosteronism, type i, autosomal dominantEnrichmentNR3C21.57
525Hypothyroidism, congenital, nongoitrous, 6EnrichmentTHRA1.57
526Hypotonia, ataxia, developmental delay, and tooth enamel defect syndromeEnrichmentCTBP11.57
52746,xy sex reversal 1EnrichmentAR1.57
528Androgen insensitivity syndromeEnrichmentAR1.57
529Immunodeficiency 66EnrichmentMRTFA1.57
530Menke-hennekam syndrome 2EnrichmentEP3001.57
531Thyroid hormone resistance syndromeEnrichmentTHRB1.57
532Hypospadias 1, x-linkedEnrichmentAR1.57
533Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP1.57
53446,xy sex reversal 3EnrichmentNR5A11.57
535Witteveen-kolk syndromeEnrichmentSIN3A1.57
536Intellectual developmental disorder with or without epilepsy or cerebellar ataxiaEnrichmentRORA1.57
537Acute myeloid leukemia without maturationEnrichmentNPM11.57
538Lymphomatoid papulosisEnrichmentNPM11.57
539Posterior hypospadiasEnrichmentAR1.57
540Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletionEnrichmentNR4A21.57
541PseudohypoaldosteronismEnrichmentNR3C21.57
542Primary cutaneous anaplastic large cell lymphomaEnrichmentNPM11.57
543Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)EnrichmentMRTFA1.57
544Seckel syndromeEnrichmentNUP851.56
545Breast-ovarian cancer, familial 2EnrichmentBRCA11.55
546Brugada syndromeEnrichmentLMNA1.55
547CraniosynostosisEnrichmentTFAP2B1.54
548HepatoblastomaEnrichmentTP531.52
549Chronic mucocutaneous candidiasisEnrichmentSTAT11.50
550Hepatocellular carcinomaEnrichmentTP531.50
551MicrophthalmiaEnrichmentTFAP2A1.50
552Diamond-blackfan anemia 1EnrichmentTP531.48
553Long qt syndromeEnrichmentLMNA1.47
554Juvenile amyotrophic lateral sclerosisEnrichmentVRK11.47
555Hypotrichosis simplexEnrichmentSNRPE1.46
556Ear malformationEnrichmentMITF1.46
557Peripheral nervous system diseaseEnrichmentLMNA1.46
558NeuropathyEnrichmentLMNA1.46
559Left ventricular noncompactionEnrichmentLMNA1.42
560PheochromocytomaEnrichmentVHL1.41
561Prader-willi syndromeEnrichmentHERC21.41
562Focal segmental glomerulosclerosisEnrichmentNUP931.41
56346,xx sex reversal 1EnrichmentNR5A11.40
564Estrogen resistanceEnrichmentESR11.40
565Tethered spinal cord syndromeEnrichmentCREBBP1.40
566Intraocular pressure quantitative trait locusEnrichmentCREBBP1.40
567Migraine without auraEnrichmentESR11.40
568Gtp cyclohydrolase 1-deficient dopa-responsive dystoniaEnrichmentNR4A21.40
569Renal cell carcinoma, nonpapillaryEnrichmentVHL1.38
570Nk-cell enteropathyEnrichmentAURKB1.37
571MyopathyEnrichmentEMD1.36
572Charcot-marie-tooth diseaseEnrichmentLMNA1.35
573Isolated growth hormone deficiency, type iaEnrichmentXRCC41.35
574Rett syndrome, congenital variantEnrichmentSMC1A1.35
575Maturity-onset diabetes of the youngEnrichmentGCK1.35
576Familial atrial fibrillationEnrichmentNUP1551.33
577NephronophthisisEnrichmentPIAS11.32
578Diamond-blackfan anemiaEnrichmentTP531.29
579Non-syndromic genetic deafnessEnrichmentMITF1.29
580Lipodystrophy, familial partial, type 3EnrichmentPPARG1.28
581Spermatogenic failure 1EnrichmentNR5A11.28
582Leptin deficiency or dysfunctionEnrichmentPPARG1.28
583Congenital generalized lipodystrophyEnrichmentPPARG1.28
584Arthrogryposis multiplex congenita 3, myogenic typeEnrichmentESR11.28
585Intrahepatic cholestasis of pregnancyEnrichmentNR1H41.28
586Dandy-walker syndromeEnrichmentPUS31.26
587Congenital nervous system abnormalityEnrichmentAAAS, CREBBP, DNMT3A, SMC1A1.26
588Nervous system diseaseEnrichmentAAAS, CREBBP, DNMT3A, SMC1A1.26
589Hirschsprung disease 1EnrichmentNUP981.25
590Hereditary paraganglioma-pheochromocytoma syndromesEnrichmentVHL1.24
591Nonsyndromic hearing lossEnrichmentMITF1.22
592Xeroderma pigmentosum, variant typeEnrichmentXPC1.22
593Uterine corpus cancerEnrichmentBRCA11.22
594Body mass index quantitative trait locus 11EnrichmentDNMT3A1.22
595Spastic ataxiaEnrichmentDNMT11.19
596Vitamin d-dependent rickets, type 2aEnrichmentVDR1.18
597Rubinstein-taybi syndrome 2EnrichmentEP3001.18
598Acute myeloid leukemia with maturationEnrichmentNPM11.18
599Nonsyndromic 46,xx testicular disorders/differences of sex developmentEnrichmentNR5A11.18
600Breast-ovarian cancer, familial 1EnrichmentBRCA11.15
601HypertelorismEnrichmentTFAP2A1.13
602Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentMITF1.13
603MedulloblastomaEnrichmentWRN1.12
604Periventricular nodular heterotopiaEnrichmentBRCA11.12
605CataractEnrichmentWRN1.12
606Male infertilityEnrichmentAR, NR5A11.12
607Wolf-hirschhorn syndromeEnrichmentCTBP11.11
608Cholestasis, progressive familial intrahepatic, 1EnrichmentNR1H41.11
609Wilms tumor 5EnrichmentTRIM281.11
610Parkinson disease 6, autosomal recessive early-onsetEnrichmentPARK71.11
611HypertrichosisEnrichmentCREBBP1.11
61246,xy disorder of sex developmentEnrichmentNR5A11.11
613Fanconi anemia, complementation group aEnrichmentBRCA1, VHL1.09
614Fetal akinesia deformation sequence 1EnrichmentNUP881.09
615Nephrotic syndromeEnrichmentNUP931.08
616Cleft palate, isolatedEnrichmentSATB21.07
617Type 2 diabetes mellitusEnrichmentGCK1.04
618Alobar holoprosencephalyEnrichmentSTAG21.03
619Hereditary retinal dystrophyEnrichmentTRNT10.99
620Fundus dystrophyEnrichmentTRNT10.99
621CakutEnrichmentCTU20.97
622Rare genetic deafnessEnrichmentMITF0.96
623Multisystem inflammatory syndrome in childrenEnrichmentIRF30.95
624Non-syndromic x-linked intellectual disabilityEnrichmentFTSJ10.95
625Charge syndromeEnrichmentEP3000.94
626Parkinson disease, late-onsetEnrichmentEIF4G10.92
627Migraine with or without aura 1EnrichmentESR10.86
628Early-onset parkinson's diseaseEnrichmentPARK70.82
629Connective tissue diseaseEnrichmentFLNB0.80
630Pulmonary disease, chronic obstructiveEnrichmentVDR0.79
631Lung cancerEnrichmentBRCA10.78
632DystoniaEnrichmentSATB20.77
633Retinitis pigmentosaEnrichmentTOPORS0.76
634Multiple sclerosisEnrichmentNR1H30.76
635Heart diseaseEnrichmentCREBBP0.76
63646,xy partial gonadal dysgenesisEnrichmentNR5A10.76
637Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentAR, NR5A10.76
638Polydactyly, postaxial, type a1EnrichmentEP3000.73
639Wilms tumor 1EnrichmentTRIM280.73
640Corpus callosum, agenesis ofEnrichmentCREBBP0.73
641Isolated corpus callosum agenesisEnrichmentCREBBP0.73
642Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP0.73
643Parkinson's diseaseEnrichmentNR4A20.64
644Dyskeratosis congenitaEnrichmentNPM10.64
645Myocardial infarctionEnrichmentESR10.59
646ScoliosisEnrichmentCREBBP0.56
647EpilepsyEnrichmentNR4A20.38
648Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentPPARGC1A0.26
649Primary ovarian insufficiencyEnrichmentNR5A20.26
650AutismEnrichmentCREBBP0.20

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