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: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.100 Biomarker disease HPO
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		0.100 Biomarker group HPO
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: 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: C0008489
Disease: Chorea
Chorea 		0.010 Biomarker phenotype BEFREE Our study thus challenges the oligogenic inheritance model and emphasizes chorea as an essential clinical feature in RNF216-mediated neurodegeneration. 25841028 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 Biomarker disease BEFREE This makes RNF216 as a potential biomarker and novel therapeutic target for inhibiting CRC development and progression. 27203674 2016
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.010 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: C0026650
Disease: Movement Disorders
Movement Disorders 		0.010 Biomarker group BEFREE RNF216) have recently been identified in patients suffering from Gordon Holmes syndrome (GHS), characterized by cognitive decline, dementia, and movement disorders. 27995769 2017