Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84140
Gene Symbol: FAM161A
FAM161A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.500 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
Entrez Id: 84140
Gene Symbol: FAM161A
FAM161A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.500 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
Entrez Id: 84140
Gene Symbol: FAM161A
FAM161A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.500 CausalMutation CLINVAR Diverse clinical phenotypes associated with a nonsense mutation in FAM161A. 26113502

2015
Entrez Id: 84140
Gene Symbol: FAM161A
FAM161A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.500 CausalMutation CLINVAR The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice. 25999674

2015
Entrez Id: 84140
Gene Symbol: FAM161A
FAM161A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.500 CausalMutation CLINVAR A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa. 26574802

2015
Entrez Id: 84140
Gene Symbol: FAM161A
FAM161A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.500 CausalMutation CLINVAR Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. 25097241

2014
Entrez Id: 84140
Gene Symbol: FAM161A
FAM161A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.500 CausalMutation CLINVAR Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa. 20705278

2010