Translational Control

No Pathway Network information available for Translational Control

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

Disorders associated with Translational Control SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1PineoblastomaEnrichmentDICER1, DROSHA6.79
2Complex neurodevelopmental disorderEnrichmentAGO1, AGO2, CNOT1, CNOT3, DDX6, EIF4A2, EIF5A, HNRNPC, SYNCRIP, UPF15.03
3Focal cortical dysplasia, type iiEnrichmentMTOR, TSC1, TSC24.97
4Isolated focal cortical dysplasia type iiEnrichmentMTOR, TSC1, TSC24.97
5Welander distal myopathyEnrichmentSQSTM1, TIA13.71
6LymphangioleiomyomatosisEnrichmentTSC1, TSC23.71
7Goiter, multinodular 1, with or without sertoli-leydig cell tumorsEnrichmentDICER1, KEAP13.71
8Erythrocytosis, familial, 3EnrichmentEGLN1, EPAS13.71
9Rhabdomyosarcoma, embryonal, 2EnrichmentDICER13.35
10Hoxha-aliu syndromeEnrichmentERI13.35
11Dicer1 syndromeEnrichmentDICER13.35
12Pleuropulmonary blastomaEnrichmentDICER13.35
13Global developmental delay, lung cysts, overgrowth, and wilms tumorEnrichmentDICER13.35
14Malignant sertoli-leydig cell tumor of ovaryEnrichmentDICER13.35
15Spondyloepimetaphyseal dysplasia, guo-campeau typeEnrichmentERI13.35
16Supratentorial primitive neuroectodermal tumorEnrichmentDICER13.35
17GynandroblastomaEnrichmentDICER13.35
18Dicer1 tumor predispositionEnrichmentDICER13.35
19Tuberous sclerosis 1EnrichmentTSC1, TSC23.24
20HamartomaEnrichmentTSC1, TSC23.24
21Myxoid liposarcomaEnrichmentDDIT3, FUS3.24
22Premature ovarian failure 3EnrichmentAGO23.05
23Vertebral anomalies and variable endocrine and t-cell dysfunctionEnrichmentDICER13.05
24Malignant granulosa cell tumor of the ovaryEnrichmentDICER13.05
25Tuberous sclerosisEnrichmentTSC1, TSC22.94
26Lessel-kreienkamp syndromeEnrichmentAGO22.88
27Embryonal rhabdomyosarcomaEnrichmentDICER12.75
28Osteogenesis imperfecta, type iEnrichmentMBTPS2, P4HB2.55
29Autosomal dominant secondary polycythemiaEnrichmentEGLN1, EPAS12.55
30NeuroblastomaEnrichmentLIN28B, SMARCA42.29
31Renal hypodysplasia/aplasia 3EnrichmentERI12.28
32Adult hepatocellular carcinomaEnrichmentTSC1, TSC22.18
33RhabdomyosarcomaEnrichmentDICER12.15
34Frontotemporal dementia and/or amyotrophic lateral sclerosis 1EnrichmentFUS, SQSTM12.09
35Myelodysplastic syndromeEnrichmentSF3B1, U2AF12.01
36Atrial heart septal defectEnrichmentRPL5, SMARCA42.01
37Interatrial communicationEnrichmentRPL5, SMARCA42.01
38Inherited cancer-predisposing syndromeEnrichmentCDC73, DICER1, FLCN, SMARCA4, TSC1, TSC21.97
39Pulmonary hypertension, primary, 1EnrichmentEIF2AK4, RPL51.86
40Diamond-blackfan anemiaEnrichmentRPL11, RPL26, RPL51.86
41Cole-carpenter syndrome 1EnrichmentP4HB1.85
42Paget disease of bone 3EnrichmentSQSTM11.85
43Pneumothorax, primary spontaneousEnrichmentFLCN1.85
44Hyperchlorhidrosis, isolatedEnrichmentCA121.85
45Intellectual developmental disorder, x-linked, syndromic, gustavson typeEnrichmentRBMX1.85
46Olmsted syndrome, x-linkedEnrichmentMBTPS21.85
47Robin sequence with cleft mandible and limb anomaliesEnrichmentEIF4A31.85
48Osteogenesis imperfecta, type xixEnrichmentMBTPS21.85
49Keratosis follicularis spinulosa decalvans, x-linkedEnrichmentMBTPS21.85
50Parathyroid carcinomaEnrichmentCDC731.85
51Hyperparathyroidism 2 with jaw tumorsEnrichmentCDC731.85
52Parkinson disease 18, autosomal dominantEnrichmentEIF4G11.85
53Dyskeratosis congenita, autosomal recessive 6EnrichmentPARN1.85
54Even-plus syndromeEnrichmentHSPA91.85
55Anemia, sideroblastic, 4EnrichmentHSPA91.85
56Tremor, hereditary essential, 4EnrichmentFUS1.85
57Diamond-blackfan anemia 7EnrichmentRPL111.85
58Corpus callosum, agenesis of, with facial anomalies and robin sequenceEnrichmentDDX3X1.85
59Holoprosencephaly 12 with or without pancreatic agenesisEnrichmentCNOT11.85
60Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3EnrichmentHNRNPA11.85
61Myopathy, distal, with rimmed vacuolesEnrichmentSQSTM11.85
62Growth restriction, hypoplastic kidneys, alopecia, and distinctive faciesEnrichmentZPR11.85
63Frontotemporal dementia and/or amyotrophic lateral sclerosis 3EnrichmentSQSTM11.85
64Intellectual developmental disorder with impaired language and dysmorphic faciesEnrichmentDDX61.85
65Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphismEnrichmentPUM11.85
66Leukoencephalopathy, developmental delay, and episodic neurologic regression syndromeEnrichmentEIF2AK21.85
67Birt-hogg-dube syndromeEnrichmentFLCN1.85
68Intellectual developmental disorder, x-linked, syndromic, snijders blok typeEnrichmentDDX3X1.85
69Hemoglobin, high altitude adaptationEnrichmentEGLN11.85
70Autism 19EnrichmentEIF4E1.85
71Charcot-marie-tooth disease, recessive intermediate bEnrichmentKARS11.85
72Spinocerebellar ataxia 26EnrichmentEEF21.85
73Major affective disorder 7EnrichmentXBP11.85
74Myopathy, distal, 3EnrichmentHNRNPA11.85
75Erythrocytosis, familial, 4EnrichmentEPAS11.85
76Diamond-blackfan anemia 11EnrichmentRPL261.85
77Neurodevelopmental disorder with hypotonia and speech delay, with or without seizuresEnrichmentEIF4A21.85
78Amyotrophic lateral sclerosis 20EnrichmentHNRNPA11.85
79Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 4EnrichmentPARN1.85
80Cdc73-related disordersEnrichmentCDC731.85
81Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalitiesEnrichmentHNRNPR1.85
82Smarca4-deficient sarcoma of thoraxEnrichmentSMARCA41.85
83Ovarian small cell carcinomaEnrichmentSMARCA41.85
84Ddx3x-related neurodevelopmental disorderEnrichmentDDX3X1.85
85Intellectual developmental disorder, autosomal recessive 50EnrichmentEDC31.85
86Vissers-bodmer syndromeEnrichmentCNOT11.85
87Faundes-banka syndromeEnrichmentEIF5A1.85
88Finnish upper limb-onset distal myopathyEnrichmentHNRNPA11.85
89Dystonia 33EnrichmentEIF2AK21.85
90Congenital myopathy 9b, proximal, with minicore lesionsEnrichmentFXR11.85
91Ifap syndromeEnrichmentMBTPS21.85
92Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomaliesEnrichmentCNOT21.85
93Congenital myopathy 9aEnrichmentFXR11.85
94Amyotrophic lateral sclerosis 26 with or without frontotemporal dementiaEnrichmentTIA11.85
95Leukoencephalopathy, progressive, infantile-onset, with or without deafnessEnrichmentKARS11.85
96Cerebellar ataxia type 47EnrichmentPUM11.85
97Intellectual developmental disorder, autosomal dominant 74EnrichmentHNRNPC1.85
98Multiple paragangliomas associated with polycythemiaEnrichmentEPAS11.85
99Rhabdomyolysis 2EnrichmentATP2A21.85
100Relapsing-remitting multiple sclerosisEnrichmentHNRNPA11.85
101Xq27.3q28 duplication syndromeEnrichmentFMR11.85
102Familial spontaneous pneumothoraxEnrichmentFLCN1.85
103Bresek syndromeEnrichmentMBTPS21.85
104Pancreatic agenesis-holoprosencephaly syndromeEnrichmentCNOT11.85
105Adar-related hereditary spastic paraplegiaEnrichmentADAR1.85
106Pum1-related cerebellar ataxiaEnrichmentPUM11.85
107Tubular renal disease-cardiomyopathy syndromeEnrichmentRRAGD1.85
108X-linked intellectual disability-hypotonia-movement disorder syndromeEnrichmentDDX3X1.85
109Renal cell carcinoma, nonpapillaryEnrichmentFLCN, MTOR1.74
110Rare genetic intellectual disabilityEnrichmentDDX3X, MTOR1.74
111Hereditary breast ovarian cancer syndromeEnrichmentDROSHA1.62
112Birt-hogg-dube syndrome 1EnrichmentFLCN1.56
113Acrokeratosis verruciformisEnrichmentATP2A21.56
114Epiphyseal dysplasia, multiple, with early-onset diabetes mellitusEnrichmentEIF2AK31.56
115Pulmonary venoocclusive disease 1, autosomal dominantEnrichmentEIF2AK41.56
116Brody diseaseEnrichmentATP2A11.56
117Intellectual developmental disorder, x-linked, syndromic, shashi typeEnrichmentRBMX1.56
118Histiocytoma, angiomatoid fibrousEnrichmentEWSR11.56
119Amyotrophic lateral sclerosis 6 with or without frontotemporal dementiaEnrichmentFUS1.56
120Diamond-blackfan anemia 6EnrichmentRPL51.56
121Rhabdoid tumor predisposition syndrome 2EnrichmentSMARCA41.56
122Hyperparathyroidism 1EnrichmentCDC731.56
123Dyschromatosis symmetrica hereditariaEnrichmentADAR1.56
124Pulmonary venoocclusive disease 2, autosomal recessiveEnrichmentEIF2AK41.56
125Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitusEnrichmentDNAJC31.56
126Aicardi-goutieres syndrome 6EnrichmentADAR1.56
127Dystonia 16EnrichmentPRKRA1.56
128Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onsetEnrichmentSQSTM11.56
129Gabriele-de vries syndromeEnrichmentYY11.56
130Deafness, congenital, and adult-onset progressive leukoencephalopathyEnrichmentKARS11.56
131Hypomagnesemia 7, renal, with or without dilated cardiomyopathyEnrichmentRRAGD1.56
132Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalitiesEnrichmentSRSF11.56
133Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizuresEnrichmentAGO11.56
134Cebalid syndromeEnrichmentMTOR1.56
135Deafness, autosomal recessive 89EnrichmentKARS11.56
136Pulmonary venoocclusive disease 1EnrichmentEIF2AK41.56
137Pulmonary venoocclusive disease 2EnrichmentEIF2AK41.56
138Alopecia-intellectual disability syndrome 4EnrichmentCNOT11.56
139Rhabdoid tumor predisposition syndromeEnrichmentSMARCA41.56
140Syndromic x-linked intellectual disability shashi typeEnrichmentRBMX1.56
141Developmental and epileptic encephalopathy 78EnrichmentYY11.56
142Otosclerosis 12EnrichmentSMARCA41.56
143Coffin-siris syndrome 4EnrichmentSMARCA41.56
144InsulinomaEnrichmentYY11.56
145Paget's disease of boneEnrichmentSQSTM11.56
146Smith-kingsmore syndromeEnrichmentMTOR1.56
147Autosomal recessive sideroblastic anemiaEnrichmentHSPA91.56
148Long-olsen-distelmaier syndromeEnrichmentRRAGC1.56
149Pulmonary venoocclusive diseaseEnrichmentEIF2AK41.56
150Symmetrical dyschromatosis of extremitiesEnrichmentADAR1.56
151Desmoplastic small round cell tumorEnrichmentEWSR11.56
152Spastic paraplegia-paget disease of bone syndromeEnrichmentSQSTM11.56
153Williams-beuren syndromeEnrichmentEIF4H, GTF2I1.50
154Diamond-blackfan anemia 1EnrichmentRPL11, RPL51.39
155Precursor t-cell acute lymphoblastic leukemiaEnrichmentCNOT3, DDX3X1.39
156Darier-white diseaseEnrichmentATP2A21.38
157Oculopharyngeal muscular dystrophy 1EnrichmentPABPN11.38
158Right atrial isomerismEnrichmentUPF11.38
159Spinal muscular atrophy, type iiiEnrichmentSMN11.38
160Spinal muscular atrophy, type iEnrichmentSMN11.38
161Spinal muscular atrophy, type iiEnrichmentSMN11.38
162Ifap syndrome 1, with or without bresheck syndromeEnrichmentMBTPS21.38
163Polycystic kidney disease, infantile severe, with tuberous sclerosisEnrichmentTSC21.38
164Menkes diseaseEnrichmentEIF2AK31.38
165Spinal muscular atrophy, type ivEnrichmentSMN11.38
166Myoglobinuria, acute recurrent, autosomal recessiveEnrichmentLPIN11.38
167Tuberous sclerosis 2EnrichmentTSC21.38
168Congenital heart defects, multiple types, 6EnrichmentUPF11.38
169Keratosis follicularis spinulosa decalvansEnrichmentMBTPS21.38
170Distal myopathyEnrichmentHNRNPA11.38
171Inclusion body myopathy with paget disease of bone and frontotemporal dementiaEnrichmentHNRNPA11.38
172Torsion dystonia 1EnrichmentEIF2AK21.38
173Mutilating palmoplantar keratoderma with periorificial keratotic plaquesEnrichmentMBTPS21.38
174Potocki-lupski syndromeEnrichmentFLCN1.38
175Xanthinuria, type iiEnrichmentTSC21.38
176Chromophobe renal cell carcinomaEnrichmentFLCN1.38
177Parathyroid adenomaEnrichmentCDC731.38
178Familial isolated hyperparathyroidismEnrichmentCDC731.38
179Cole-carpenter syndromeEnrichmentP4HB1.38
180MyxofibrosarcomaEnrichmentFUS1.38
181Melanoma of soft tissueEnrichmentEWSR11.38
182Myelodysplastic syndrome with ring sideroblastsEnrichmentSF3B11.38
183EnchondromatosisEnrichmentHIF1A1.38
184Ovarian cancerEnrichmentDICER11.36
185Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentFUS, HNRNPA1, SQSTM11.32
186Hypertriglyceridemia 1EnrichmentZPR11.26
187Paget disease of bone 2, early-onsetEnrichmentSQSTM11.26
188Fragile x tremor/ataxia syndromeEnrichmentFMR11.26
189Au-kline syndromeEnrichmentHNRNPK1.26
190Intellectual developmental disorder with speech delay, autism, and dysmorphic faciesEnrichmentCNOT31.26
191Fragile x-associated tremor/ataxia syndromeEnrichmentFMR11.26
192Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentSF3B11.26
193Pilocytic astrocytomaEnrichmentFLCN1.26
194Hereditary recurrent myoglobinuriaEnrichmentLPIN11.26
195Paget's disease of bone 2EnrichmentSQSTM11.26
196Transposition of the great arteriesEnrichmentUPF11.26
197Familial infantile bilateral striatal necrosisEnrichmentADAR1.26
198Enchondromatosis, multiple, ollier typeEnrichmentHIF1A1.17
199Premature ovarian failure 1EnrichmentFMR11.17
200Fragile x syndromeEnrichmentFMR11.17
201Chondrosarcoma, extraskeletal myxoidEnrichmentEWSR11.17
202HemangiomaEnrichmentRPL51.17
203Spinal muscular atrophyEnrichmentSMN11.17
204HemimegalencephalyEnrichmentMTOR1.17
205Melanoma, uvealEnrichmentSF3B11.09
206KeratoconusEnrichmentTSC11.09
207Pulmonary fibrosisEnrichmentPARN1.09
208Hoyeraal-hreidarsson syndromeEnrichmentPARN1.09
209Sporadic pheochromocytoma/secreting paragangliomaEnrichmentEPAS11.09
210Polycystic kidney disease 1 with or without polycystic liver diseaseEnrichmentTSC21.03
211Multiple endocrine neoplasia, type iEnrichmentCDC731.03
212Leukoencephalopathy with vanishing white matter 1EnrichmentEIF2B51.03
213Leukemia, chronic myeloidEnrichmentSF3B11.03
214Renal cell carcinoma, papillary, 1EnrichmentMTOR1.03
215Multiple enchondromatosis, maffucci typeEnrichmentHIF1A1.03
216Polycystic kidney disease 1EnrichmentTSC21.03
217Renal cell carcinoma with mit translocationsEnrichmentTFEB1.03
218Overgrowth syndromeEnrichmentMTOR1.03
219Hereditary clear cell renal cell carcinomaEnrichmentFLCN1.03
220Ewing sarcomaEnrichmentEWSR10.97
221Leukoencephalopathy with vanishing white matter 5EnrichmentEIF2B50.97
222Chromosome y microdeletion syndromeEnrichmentDAZ10.97
223Neurofibromatosis, type iEnrichmentEWSR10.92
224Leukoencephalopathy with vanishing white matterEnrichmentEIF2B50.92
225Ventricular septal defectEnrichmentSMARCA40.92
226Behavioral variant of frontotemporal dementiaEnrichmentSQSTM10.92
227Aicardi-goutiares syndromeEnrichmentADAR0.92
228Juvenile amyotrophic lateral sclerosisEnrichmentFUS0.92
229Aplastic anemiaEnrichmentRPL50.88
230Aicardi-goutieres syndromeEnrichmentADAR0.88
231Optic nerve diseaseEnrichmentKARS10.88
232Heritable pulmonary arterial hypertensionEnrichmentEIF2AK40.84
233Lactic acidosisEnrichmentKARS10.81
234Hypercholesterolemia, familial, 1EnrichmentSMARCA40.78
235Osteogenesis imperfecta, type ivEnrichmentMBTPS20.78
236Protein-deficiency anemiaEnrichmentRPL110.78
237Coffin-siris syndrome 1EnrichmentSMARCA40.72
238Osteogenesis imperfecta, type iiiEnrichmentMBTPS20.72
239Familial hypercholesterolemiaEnrichmentSMARCA40.72
240Autosomal dominant polycystic kidney diseaseEnrichmentTSC20.72
241Kidney diseaseEnrichmentTSC10.72
242Primary ovarian insufficiencyEnrichmentKHDRBS1, RICTOR0.70
243Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentDDX3X0.69
244Cleft palate, isolatedEnrichmentSMARCA40.67
245Interstitial lung disease 2EnrichmentPARN0.67
246Dyskeratosis congenitaEnrichmentPARN0.63
247LeukodystrophyEnrichmentKARS10.61
248Parkinson disease, late-onsetEnrichmentEIF4G10.54
249StrabismusEnrichmentUPF10.50
250Bladder cancerEnrichmentTSC10.47
251Colorectal cancerEnrichmentADAR, FLCN0.46
252Male infertilityEnrichmentPIWIL10.42
253Non-syndromic genetic deafnessEnrichmentKARS10.40
254Cerebral palsyEnrichmentSMARCA40.37
255Leukemia, acute myeloidEnrichmentSF3B10.36
256Type 2 diabetes mellitusEnrichmentIGF2BP20.35
257Nonsyndromic hearing lossEnrichmentKARS10.35
258West syndromeEnrichmentTSC20.33
259Hereditary breast carcinomaEnrichmentCDC730.33
260Sensorineural hearing lossEnrichmentKARS10.31
261MicrocephalyEnrichmentDDX3X, KARS10.29
262HypertelorismEnrichmentUPF10.28
263Spastic ataxiaEnrichmentPUM10.28
264Autosomal recessive non-syndromic intellectual disabilityEnrichmentEDC30.25
265Deafness, autosomal recessiveEnrichmentKARS10.23
266Autosomal recessive nonsyndromic deafnessEnrichmentKARS10.23
267Breast cancerEnrichmentCDC730.18
268Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentKARS10.14
269Congenital nervous system abnormalityEnrichmentTSC20.11
270Nervous system diseaseEnrichmentTSC20.11
271Autism spectrum disorderEnrichmentTSC20.10

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