Source: CLINVAR ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C3150691
Disease: RETINITIS PIGMENTOSA 54
RETINITIS PIGMENTOSA 54 		disease Disease or Syndrome 1 6 0.900 None 1.000 0 6 2010 2015
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 88 420 0.440 strong 1.000 2 6 2010 2015
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group Eye Diseases Disease or Syndrome 78 218 0.100 None 1.000 1 1 2010 2010
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		disease Eye Diseases Disease or Syndrome 11 12 0.100 None 0 1
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		disease Eye Diseases Disease or Syndrome 25 52 0.100 None 0 1
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 88 257 0.100 None 0 1
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		disease Finding 5 8 0.100 None 0 1
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		disease Disease or Syndrome 28 41 0.100 None 0 1