Details of Disease

General Information of Disease (ID: DISCCEBT)

• Disease Name: Obsolete preimplantation embryonic lethality 2
• Synonyms: PREMBL2; preimplantation embryonic lethality type 2; preimplantation embryonic lethality 2; preimplantation embryonic lethality 2; PREMBL2; PADI6 preimplantation embryonic lethality; preimplantation embryonic lethality caused by mutation in PADI6
• Definition: OBSOLETE. Any preimplantation embryonic lethality in which the cause of the disease is a mutation in the PADI6 gene.
• Disease Hierarchy:
  DIS01GPL: Grass pollen hypersensitivity
  DISCCEBT: Obsolete preimplantation embryonic lethality 2

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PADI6	OTS42I3K	Strong	Autosomal recessive	[1]

References

• [1] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.