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: 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: 51322
Gene Symbol: WAC
WAC
WW domain containing adaptor with coiled-coil 0.686 0.615 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: 9772
Gene Symbol: TMEM94
TMEM94
transmembrane protein 94 0.628 0.654 2.8E-14
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: 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: 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: 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: 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: 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
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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