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: C1859305
Disease: Cerebellar Ataxia and Hypogonadotropic Hypogonadism
Cerebellar Ataxia and Hypogonadotropic Hypogonadism 		0.750 Biomarker disease GENOMICS_ENGLAND
CUI: C1859305
Disease: Cerebellar Ataxia and Hypogonadotropic Hypogonadism
Cerebellar Ataxia and Hypogonadotropic Hypogonadism 		0.750 CausalMutation disease CLINVAR
CUI: C1859305
Disease: Cerebellar Ataxia and Hypogonadotropic Hypogonadism
Cerebellar Ataxia and Hypogonadotropic Hypogonadism 		0.750 Biomarker disease CTD_human
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		0.110 Biomarker disease HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0018418
Disease: Gynecomastia
Gynecomastia 		0.100 Biomarker disease HPO
CUI: C0021359
Disease: Infertility
Infertility 		0.100 Biomarker phenotype HPO
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.100 GeneticVariation disease CLINVAR
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
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: 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