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: 4054
Gene Symbol: LTBP3
LTBP3
latent transforming growth factor beta binding protein 3 0.564 0.846 0.69
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
disease 0.620 strong 1.000 1 0 2015 2017
Entrez Id: 401138
Gene Symbol: AMTN
AMTN
amelotin 0.792 0.192 8.1E-11
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
disease 0.420 moderate 1.000 1 0 2016 2019
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
disease 0.400 strong 1.000 1 0 2016 2016
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
collagen type XVII alpha 1 chain 0.545 0.769 2.3E-27
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
disease 0.330 strong 1.000 1 0 1996 2016
Entrez Id: 7286
Gene Symbol: TUFT1
TUFT1
tuftelin 1 0.682 0.385 1.1E-04
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
disease 0.330 None 1.000 1 0 1994 1998
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
laminin subunit gamma 2 0.389 0.923 2.9E-12
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
disease 0.300 moderate 1.000 1 0 2017 2017
Entrez Id: 3758
Gene Symbol: KCNJ1
KCNJ1
potassium inwardly rectifying channel subfamily J member 1 0.619 0.577 4.6E-05
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 55670
Gene Symbol: PEX26
PEX26
peroxisomal biogenesis factor 26 0.584 0.615 0.93
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
disease 0.300 moderate 1.000 1 0 2017 2017
Entrez Id: 55858
Gene Symbol: TMEM165
TMEM165
transmembrane protein 165 0.711 0.385 0.28
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
integrin subunit beta 4 0.525 0.731 9.5E-19
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
disease 0.300 moderate 0 0