Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 10464
Gene Symbol: PIBF1
PIBF1 		progesterone immunomodulatory binding factor 1 0.670 0.462 1.9E-11
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		disease 0.620 limited 0.667 1 0 2015 2019
Entrez Id: 10464
Gene Symbol: PIBF1
PIBF1 		progesterone immunomodulatory binding factor 1 0.670 0.462 1.9E-11
CUI: C4540389
Disease: JOUBERT SYNDROME 33
JOUBERT SYNDROME 33 		disease 0.600 None 1.000 1 0 2015 2018
Entrez Id: 10464
Gene Symbol: PIBF1
PIBF1 		progesterone immunomodulatory binding factor 1 0.670 0.462 1.9E-11
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype 0.400 limited 1.000 1 0 2015 2015
Entrez Id: 10464
Gene Symbol: PIBF1
PIBF1 		progesterone immunomodulatory binding factor 1 0.670 0.462 1.9E-11
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 limited 1.000 1 0 2015 2015
Entrez Id: 10464
Gene Symbol: PIBF1
PIBF1 		progesterone immunomodulatory binding factor 1 0.670 0.462 1.9E-11
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 limited 1.000 1 0 2015 2015
Entrez Id: 10464
Gene Symbol: PIBF1
PIBF1 		progesterone immunomodulatory binding factor 1 0.670 0.462 1.9E-11
CUI: C4313693
Disease: Vermis hypoplasia
Vermis hypoplasia 		phenotype 0.300 limited 1.000 1 0 2015 2015