PRPF6, pre-mRNA processing factor 6, 24148

N. diseases: 76; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151434
Disease: RETINITIS PIGMENTOSA 60
RETINITIS PIGMENTOSA 60
0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3151434
Disease: RETINITIS PIGMENTOSA 60
RETINITIS PIGMENTOSA 60
0.700 CausalMutation disease CLINVAR
CUI: C3151434
Disease: RETINITIS PIGMENTOSA 60
RETINITIS PIGMENTOSA 60
0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3151434
Disease: RETINITIS PIGMENTOSA 60
RETINITIS PIGMENTOSA 60
0.700 Biomarker disease CTD_human
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.420 GeneticVariation disease CLINVAR
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.420 Biomarker disease GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.300 Biomarker group GENOMICS_ENGLAND
Diabetes Mellitus, Non-Insulin-Dependent
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
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: 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: C0030232
Disease: Pallor
Pallor
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
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
0.100 Biomarker phenotype HPO
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity
0.100 Biomarker phenotype HPO