RDH12, retinol dehydrogenase 12, 145226

N. diseases: 56; N. variants: 24
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.500 GeneticVariation disease CLINVAR
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.500 CausalMutation disease CLINVAR
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.460 Biomarker group HPO
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.460 GeneticVariation group CLINVAR
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0456909
Disease: Blindness
Blindness 		0.120 Biomarker phenotype HPO
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		0.120 GeneticVariation disease CLINVAR
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.100 Biomarker disease HPO
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		0.100 Biomarker disease HPO
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.100 Biomarker disease HPO
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		0.100 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.100 Biomarker disease HPO
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		0.100 Biomarker disease HPO
CUI: C0022578
Disease: Keratoconus
Keratoconus 		0.100 Biomarker disease HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0028754
Disease: Obesity
Obesity 		0.100 Biomarker disease HPO
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		0.100 Biomarker phenotype HPO
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0085636
Disease: Photophobia
Photophobia 		0.100 Biomarker phenotype HPO
CUI: C0086543
Disease: Cataract
Cataract 		0.100 Biomarker disease HPO