Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.400 GermlineCausalMutation ORPHANET A primary role of the ABCA4 gene in STGD1/FFM and AR CRD, together with the gene's involvement in an as-yet-unknown proportion of cases with AR RP, strengthens the idea that mutations in the ABCA4 gene could be the most frequent cause of inherited retinal dystrophy in humans. 10958761

2000
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.400 GermlineCausalMutation ORPHANET Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes. 23776498

2013
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.400 GermlineCausalMutation ORPHANET Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands. 26992781

2016