ADD3, adducin 3, 120

N. diseases: 54; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310767
Disease: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3
CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3 		0.600 Biomarker disease CTD_human
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.110 CausalMutation disease CLINVAR
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 Biomarker group HPO
CUI: C0015310
Disease: Exotropia
Exotropia 		0.100 Biomarker disease HPO
CUI: C0023882
Disease: Little's Disease
Little's Disease 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		0.100 Biomarker phenotype HPO
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 Biomarker disease HPO
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C1720037
Disease: Supranuclear gaze palsy
Supranuclear gaze palsy 		0.100 Biomarker phenotype HPO
CUI: C1848207
Disease: Poor speech
Poor speech 		0.100 Biomarker phenotype HPO
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		0.100 Biomarker phenotype HPO
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		0.100 Biomarker phenotype HPO
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		0.100 CausalMutation phenotype CLINVAR
CUI: C4021584
Disease: Frontotemporal cerebral atrophy
Frontotemporal cerebral atrophy 		0.100 CausalMutation disease CLINVAR
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		0.100 Biomarker phenotype HPO
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.200 Biomarker group RGD A hypertension-linked decrease of gamma-adducin was confirmed by demonstrating a decrease in gamma-adducin expression in hypothalamic/brainstem neuronal cultures from prehypertensive SH rats. 12364392 2002
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.030 GeneticVariation disease BEFREE NUP98 is fused to adducin 3 in a patient with T-cell acute lymphoblastic leukemia and myeloid markers, with a new translocation t(10;11)(q25;p15). 12810632 2003
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 Biomarker disease BEFREE ADDL concentrations for the subjects diagnosed with AD were consistently higher than the levels in the CSF taken from nondemented age-matched controls. 15695586 2005
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 GeneticVariation group BEFREE The sclerosing perineuriomas showed 46,XY,t(2;10)(p23;q24) and 47,XX,add(3)(q23),add(6)(q21),-5,-9,-10,-22,+mar1,+mar2,+mars; the intraneural tumor showed 46,XX,add(2)(q11.2),add(3)(q12); and the abdominal soft tissue perineurioma showed 46,XX,t(8;9)(q13;q22). 16096405 2005
CUI: C0751691
Disease: Perineurioma
Perineurioma 		0.010 GeneticVariation disease BEFREE The sclerosing perineuriomas showed 46,XY,t(2;10)(p23;q24) and 47,XX,add(3)(q23),add(6)(q21),-5,-9,-10,-22,+mar1,+mar2,+mars; the intraneural tumor showed 46,XX,add(2)(q11.2),add(3)(q12); and the abdominal soft tissue perineurioma showed 46,XX,t(8;9)(q13;q22). 16096405 2005
CUI: C1370657
Disease: Soft tissue perineurioma
Soft tissue perineurioma 		0.010 GeneticVariation disease BEFREE The sclerosing perineuriomas showed 46,XY,t(2;10)(p23;q24) and 47,XX,add(3)(q23),add(6)(q21),-5,-9,-10,-22,+mar1,+mar2,+mars; the intraneural tumor showed 46,XX,add(2)(q11.2),add(3)(q12); and the abdominal soft tissue perineurioma showed 46,XX,t(8;9)(q13;q22). 16096405 2005
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.030 Biomarker disease BEFREE Involvement of ADD3 and C6ORF80 genes were detected, respectively, in myeloid disorders and in T-cell acute lymphoblastic leukemia (T-ALL), whereas the RAP1GDS1 gene was fused to NUP98 in T-ALL. 16467868 2006