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: 8621
Gene Symbol: CDK13
CDK13
cyclin dependent kinase 13 0.606 0.692 0.91
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 23347
Gene Symbol: SMCHD1
SMCHD1
structural maintenance of chromosomes flexible hinge domain containing 1 0.631 0.615 1.00
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 1.000 1 2 2017 2017
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
contactin associated protein 1 0.554 0.577 3.4E-05
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
transcription factor 4 0.464 0.846 1.00
CUI: C1854114
Disease: Short nose
Short nose
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: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 1
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 1
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
ribosomal protein S6 kinase A3 0.491 0.846 1.00
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 1
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 1
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
phosphatidylinositol glycan anchor biosynthesis class V 0.636 0.615 1.5E-08
CUI: C1854114
Disease: Short nose
Short nose
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: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 1
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
nuclear factor I X 0.547 0.769 1.00
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 1
Entrez Id: 4298
Gene Symbol: MLLT1
MLLT1
MLLT1 super elongation complex subunit 0.663 0.346 0.99
CUI: C1854114
Disease: Short nose
Short nose
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: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 1
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
H3.3 histone A 0.559 0.692 0.12
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 1
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 1
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 2
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
potassium channel tetramerization domain containing 7 0.650 0.423 6.3E-04
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 2
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 1
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 1