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: 57178
Gene Symbol: ZMIZ1
ZMIZ1 		zinc finger MIZ-type containing 1 0.588 0.615 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.410 None 1.000 2 0 2015 2019
Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1 		zinc finger MIZ-type containing 1 0.588 0.615 1.00
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype 0.400 None 1.000 2 0 2015 2019
Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1 		zinc finger MIZ-type containing 1 0.588 0.615 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.320 None 1.000 2 0 2015 2020
Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1 		zinc finger MIZ-type containing 1 0.588 0.615 1.00
CUI: C4021817
Disease: Abnormality of head or neck
Abnormality of head or neck 		phenotype 0.300 None 1.000 2 0 2015 2016
Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1 		zinc finger MIZ-type containing 1 0.588 0.615 1.00
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease 0.300 None 1.000 2 0 2015 2016
Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1 		zinc finger MIZ-type containing 1 0.588 0.615 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.300 None 1.000 2 0 2015 2016
Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1 		zinc finger MIZ-type containing 1 0.588 0.615 1.00
CUI: C0262361
Disease: Growth abnormality
Growth abnormality 		phenotype 0.300 None 1.000 2 0 2015 2016
Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1 		zinc finger MIZ-type containing 1 0.588 0.615 1.00
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		group 0.300 None 1.000 2 0 2015 2016
Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1 		zinc finger MIZ-type containing 1 0.588 0.615 1.00
CUI: C4021821
Disease: Abnormality of the urinary system
Abnormality of the urinary system 		disease 0.300 None 1.000 2 0 2015 2016
Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1 		zinc finger MIZ-type containing 1 0.588 0.615 1.00
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.300 moderate 1.000 1 0 2015 2015