TFR2, transferrin receptor 2, 7036

N. diseases: 92; N. variants: 50
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C0240543
Disease:
Bulbous nose 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C0038379
Disease:
Strabismus 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C4022738
Disease:
Neurodevelopmental delay 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C1840379
Disease:
Cerebellar vermis hypoplasia 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C0751093
Disease:
Dystonia, Limb 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C0557874
Disease:
Global developmental delay 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C4022748
Disease:
Focal T2 hyperintense brainstem lesion 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C0221354
Disease:
Frontal bossing 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C0476287
Disease:
Breath-holding spell 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C1445953
Disease:
Poor eye contact 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C0234133
Disease:
Extrapyramidal sign 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C0152421
Disease:
Macrotia 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C0423224
Disease:
Sunken eyes 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C1846151
Disease:
Widened subarachnoid space 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C1865916
Disease:
Bilateral ptosis 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C1273957
Disease:
Upper limb spasticity 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C4072950
Disease:
Abnormal timing of pattern reversal visual evoked potentials 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C0036572
Disease:
Seizures 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C4021219
Disease:
Multifocal epileptiform discharges 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C0240635
Disease:
Byzanthine arch palate 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C0151786
Disease:
Muscle Weakness 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C2315100
Disease:
Pediatric failure to thrive 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C4023476
Disease:
EEG with generalized epileptiform discharges 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C1859339
Disease:
Midfrontal capillary hemangioma 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C1852504
Disease:
Misalignment of teeth 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019