PhenoModifier-Disease Detail

Disorder "Alagille syndrome"

Found 1 record

Disorder information

Disorder name:

Alagille syndrome

Disoder ID:

DOID_9245

OMIM entry:

OMIM:610205 ,OMIM:118450

Synonyms:

Alagille-Watson syndrome, Arteriohepatic dysplasia

Definition:

A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts.

Modifier statisitcs

Record:

1

Gene:

1

Variant:

1

Reference:

1

Effect type:

Expressivity(1)

Modifier effect:

Altered severity(1)

Modifier gene	Variant	Effect type	Modifier effect	Evidence	Effect	PubMed ID
SOX9	SOX9	Expressivity	Altered severity	Gene activity study	Sox9 is a dosage-sensitive modifier of Jag1+/- liver phenotypes with a permissive role in biliary developmentmore	31469182 more

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