Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES
0.700 Biomarker disease GENOMICS_ENGLAND Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults. 29181510 2018
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES
0.700 Biomarker disease GENOMICS_ENGLAND Siblings with optic neuropathy and RTN4IP1 mutation. 28638143 2017
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES
0.700 GeneticVariation disease UNIPROT Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies. 26593267 2015
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES
0.700 Biomarker disease GENOMICS_ENGLAND Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies. 26593267 2015
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES
0.700 CausalMutation disease CLINVAR
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES
0.700 Biomarker disease CTD_human
CUI: C0085636
Disease: Photophobia
Photophobia
0.100 Biomarker phenotype HPO
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity
0.100 Biomarker phenotype HPO
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc
0.100 Biomarker phenotype HPO
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve
0.040 GeneticVariation group BEFREE Our results identify novel compound heterozygous mutations in RTN4IP1 which are associated with OPA10, highlighting the frequency of RTN4IP1 mutations in human autosomal recessive IONs. 31077085 2019
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve
0.040 GeneticVariation group BEFREE Recessive RTN4IP1 gene mutations have been shown to cause isolated and syndromic optic neuropathies. 29181510 2018
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve
0.040 GeneticVariation group BEFREE Siblings with optic neuropathy and RTN4IP1 mutation. 28638143 2017
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve
0.040 GeneticVariation group BEFREE Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies. 26593267 2015
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
0.020 GeneticVariation disease BEFREE RTN4IP1 has recently been identified as the third known gene associated with the autosomal recessive ION optic atrophy 10 (OPA10). 31077085 2019
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
0.020 GeneticVariation disease BEFREE A broad clinical spectrum of neurologic features, ranging from isolated optic atrophy to severe early-onset encephalopathies, is associated with RTN4IP1 biallelic mutations and should prompt RTN4IP1 screening in both syndromic neurologic presentations and nonsyndromic recessive optic neuropathies. 29181510 2018
CUI: C0036572
Disease: Seizures
Seizures
0.010 GeneticVariation phenotype BEFREE Patients with RTN4IP1 mutations show early-onset optic neuropathy that can be followed by additional neurological symptoms such as seizures, ataxia, mental retardation, or even severe encephalopathy. 31077085 2019
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms
0.010 GeneticVariation group BEFREE Patients with RTN4IP1 mutations show early-onset optic neuropathy that can be followed by additional neurological symptoms such as seizures, ataxia, mental retardation, or even severe encephalopathy. 31077085 2019
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
0.010 GeneticVariation group BEFREE A broad clinical spectrum of neurologic features, ranging from isolated optic atrophy to severe early-onset encephalopathies, is associated with RTN4IP1 biallelic mutations and should prompt RTN4IP1 screening in both syndromic neurologic presentations and nonsyndromic recessive optic neuropathies. 29181510 2018
CUI: C3887709
Disease: Optic Neuropathy
Optic Neuropathy
0.010 GeneticVariation disease BEFREE Siblings with optic neuropathy and RTN4IP1 mutation. 28638143 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 AlteredExpression group BEFREE This is the first study to characterize the expression and function of RTN4IP1 in cancer. 23393170 2013
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.010 AlteredExpression disease BEFREE Our results demonstrate RTN4IP1 is down-regulated in thyroid cancer and is associated with larger papillary thyroid cancer and that it regulates malignant cell phenotype. 23393170 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 AlteredExpression group BEFREE Small interfering RNA knockdown of RTN4IP1 expression increased cellular proliferation (2- to 4-fold) in all 3 of the cell lines tested and increased cellular invasion (1.5- to 3-fold) and migration (2- to 7.5-fold), colony formation (3- to 6-fold), and tumor spheroid formation (P < .05) in 2 of the 3 cell lines tested (FTC-133 and XTC1). 23393170 2013
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.010 AlteredExpression disease BEFREE Our results demonstrate RTN4IP1 is down-regulated in thyroid cancer and is associated with larger papillary thyroid cancer and that it regulates malignant cell phenotype. 23393170 2013
CUI: C0205642
Disease: Adenocarcinoma, Oxyphilic
Adenocarcinoma, Oxyphilic
0.010 Biomarker disease BEFREE In 3 thyroid cancer cell lines (TPC1 from a papillary thyroid cancer, FTC133 from a follicular thyroid cancer, XTC1 from a Hürthle cell carcinoma), small interfering RNA knockdown of RTN4IP1 was used to determine its role in regulating the hallmarks of malignant cell phenotype (cellular proliferation, migration, apoptosis, invasion, tumor spheroid formation, anchorage independent growth). 23393170 2013
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.010 AlteredExpression disease BEFREE Our results demonstrate RTN4IP1 is down-regulated in thyroid cancer and is associated with larger papillary thyroid cancer and that it regulates malignant cell phenotype. 23393170 2013