Source: CLINVAR

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: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0151526
Disease: Premature Birth
Premature Birth
phenotype 0.100 None 0 1
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C0151526
Disease: Premature Birth
Premature Birth
phenotype 0.100 None 0 1
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
ATP synthase F1 subunit delta 0.674 0.500 7.4E-02
CUI: C0151526
Disease: Premature Birth
Premature Birth
phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
ATP synthase F0 subunit 6 0.541 0.731
CUI: C0151526
Disease: Premature Birth
Premature Birth
phenotype 0.100 None 0 1
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0151526
Disease: Premature Birth
Premature Birth
phenotype 0.100 None 0 1
Entrez Id: 823
Gene Symbol: CAPN1
CAPN1
calpain 1 0.539 0.808 5.9E-10
CUI: C0151526
Disease: Premature Birth
Premature Birth
phenotype 0.100 None 0 1
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0151526
Disease: Premature Birth
Premature Birth
phenotype 0.100 None 0 1
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
contactin associated protein 1 0.554 0.577 3.4E-05
CUI: C0151526
Disease: Premature Birth
Premature Birth
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 25839
Gene Symbol: COG4
COG4
component of oligomeric golgi complex 4 0.631 0.615 4.0E-09
CUI: C0151526
Disease: Premature Birth
Premature Birth
phenotype 0.100 None 0 1
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0151526
Disease: Premature Birth
Premature Birth
phenotype 0.100 None 0 1
Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11
dynein axonemal heavy chain 11 0.587 0.692 2.5E-58
CUI: C0151526
Disease: Premature Birth
Premature Birth
phenotype 0.100 None 0 2
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
dynein cytoplasmic 1 heavy chain 1 0.547 0.769 1.00
CUI: C0151526
Disease: Premature Birth
Premature Birth
phenotype 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C0151526
Disease: Premature Birth
Premature Birth
phenotype 0.100 None 0 1
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0151526
Disease: Premature Birth
Premature Birth
phenotype 0.100 None 0 1
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
G protein subunit alpha q 0.516 0.808 0.98
CUI: C0151526
Disease: Premature Birth
Premature Birth
phenotype 0.100 None 0 1
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
GNAS complex locus 0.420 0.885 0.68
CUI: C0151526
Disease: Premature Birth
Premature Birth
phenotype 0.100 None 0 1
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C0151526
Disease: Premature Birth
Premature Birth
phenotype 0.100 None 1.000 1 1 2020 2020
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
lysine methyltransferase 2B 0.529 0.808 1.00
CUI: C0151526
Disease: Premature Birth
Premature Birth
phenotype 0.100 None 0 1
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
leucine zipper like transcription regulator 1 0.547 0.808 1.0E-92
CUI: C0151526
Disease: Premature Birth
Premature Birth
phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
MAGE family member L2 0.560 0.654 0.98
CUI: C0151526
Disease: Premature Birth
Premature Birth
phenotype 0.100 None 0 1
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0151526
Disease: Premature Birth
Premature Birth
phenotype 0.100 None 0 1
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP
mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C0151526
Disease: Premature Birth
Premature Birth
phenotype 0.100 None 0 1
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0151526
Disease: Premature Birth
Premature Birth
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
myosin VB 0.641 0.731 3.4E-23
CUI: C0151526
Disease: Premature Birth
Premature Birth
phenotype 0.100 None 0 2
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
notch receptor 2 0.441 0.808 1.00
CUI: C0151526
Disease: Premature Birth
Premature Birth
phenotype 0.100 None 0 1