Details of Disease | DrugMAP

General Information of Disease (ID: DISFL9N4)

Disease Name	Ataxia-telangiectasia-like disorder 2
Synonyms	ATLD2; PCNA-related progressive neurodegenerative photosensitivity syndrome; ataxia-telangiectasia-like disorder type 2; ataxia-telangiectasia-like disorder 2
Disease Hierarchy	DIS98DFM: Ataxia-telangiectasia-like disorder DISN7YWO: DNA repair disease DISFL9N4: Ataxia-telangiectasia-like disorder 2
Disease Identifiers	MONDO ID MONDO_0014399 UMLS CUI C4014676 OMIM ID 615919 MedGen ID 863113 Orphanet ID 438134 SNOMED CT ID 1228871002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PCNA	TTLG1PD	Supportive	Autosomal recessive	[1]
PCNA	TTLG1PD	Strong	GermlineCausalMutation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PCNA	OTHZ1RIA	Supportive	Autosomal recessive	[1]
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References

1	Hypomorphic PCNA mutation underlies a human DNA repair disorder. J Clin Invest. 2014 Jul;124(7):3137-46. doi: 10.1172/JCI74593. Epub 2014 Jun 9.