RNF216, ring finger protein 216, 54476

N. diseases: 47; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.100 Biomarker disease HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 Biomarker disease HPO
CUI: C0240735
Disease: Personality Change
Personality Change 		0.100 Biomarker phenotype HPO
CUI: C0266011
Disease: Accessory nipple
Accessory nipple 		0.100 Biomarker disease HPO
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.100 GeneticVariation disease CLINVAR
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis 		0.100 Biomarker disease HPO
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		0.100 Biomarker phenotype HPO
CUI: C0497327
Disease: Dementia
Dementia 		0.100 Biomarker disease HPO
CUI: C0520927
Disease: Decreased fertility
Decreased fertility 		0.100 Biomarker phenotype HPO
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.100 Biomarker disease HPO
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 Biomarker disease HPO
CUI: C1857627
Disease: Chorioretinal dystrophy
Chorioretinal dystrophy 		0.100 Biomarker disease HPO
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		0.100 Biomarker phenotype HPO
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		0.100 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		0.100 Biomarker phenotype HPO
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.100 Biomarker disease HPO
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		0.100 Biomarker disease HPO
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		0.100 Biomarker phenotype HPO
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		0.110 Biomarker disease BEFREE We thus have identified that RNF216 regulates the migration of GnRH neuron by suppressing Beclin1 mediated autophagy, and indicated a potential contribution of autophagy to the hypogonadotropic hypogonadism. 30733708 2019
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		0.110 Biomarker disease HPO
CUI: C1859305
Disease: Cerebellar Ataxia and Hypogonadotropic Hypogonadism
Cerebellar Ataxia and Hypogonadotropic Hypogonadism 		0.750 GeneticVariation disease BEFREE Mutations in human Rnf216 gene have been identified in Gordon Holmes syndrome, which is defined by ataxia, dementia, and hypogonadotropism. 30649198 2019
CUI: C1859305
Disease: Cerebellar Ataxia and Hypogonadotropic Hypogonadism
Cerebellar Ataxia and Hypogonadotropic Hypogonadism 		0.750 Biomarker disease BEFREE The molecular pathology of GDHS is not understood, although RNF216 has been reported to modify several substrates with K48-linked ubiquitin chains, thereby targeting them for proteasomal degradation. 31087003 2019
CUI: C1859305
Disease: Cerebellar Ataxia and Hypogonadotropic Hypogonadism
Cerebellar Ataxia and Hypogonadotropic Hypogonadism 		0.750 Biomarker disease BEFREE RNF216) have recently been identified in patients suffering from Gordon Holmes syndrome (GHS), characterized by cognitive decline, dementia, and movement disorders. 27995769 2017