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: 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: 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: 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: 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: 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: 6016
Gene Symbol: RIT1
RIT1
Ras like without CAAX 1 0.527 0.808 0.13
CUI: C0151526
Disease: Premature Birth
Premature Birth
phenotype 0.100 None 0 3
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0151526
Disease: Premature Birth
Premature Birth
phenotype 0.100 None 0 1
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: 57479
Gene Symbol: PRR12
PRR12
proline rich 12 0.716 0.385 1.00
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: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
zinc metallopeptidase STE24 0.517 0.731 8.9E-16
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: 7275
Gene Symbol: TUB
TUB
TUB bipartite transcription factor 0.659 0.385 3.1E-03
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: 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: 93627
Gene Symbol: TBCK
TBCK
TBC1 domain containing kinase 0.650 0.654 2.1E-15
CUI: C0151526
Disease: Premature Birth
Premature Birth
phenotype 0.100 None 0 1
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: 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: 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: 5373
Gene Symbol: PMM2
PMM2
phosphomannomutase 2 0.535 0.769 1.4E-17
CUI: C0151526
Disease: Premature Birth
Premature Birth
phenotype 0.100 None 0 2
Entrez Id: 103091864
Gene Symbol: SNHG22
SNHG22
small nucleolar RNA host gene 22 0.861 0.346
CUI: C0151526
Disease: Premature Birth
Premature Birth
phenotype 0.100 None 0 2
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: 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