Source: HPO

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: 1717
Gene Symbol: DHCR7
DHCR7 		7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2 		ADAM metallopeptidase with thrombospondin type 1 motif 2 0.579 0.808 0.97
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 100
Gene Symbol: ADA
ADA 		adenosine deaminase 0.440 0.885 2.9E-12
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1 		ASXL transcriptional regulator 1 0.482 0.808 1.3E-14
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT 		beta 3-glucosyltransferase 0.554 0.731 7.1E-17
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 650
Gene Symbol: BMP2
BMP2 		bone morphogenetic protein 2 0.432 0.846 0.99
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B 		bone morphogenetic protein receptor type 1B 0.573 0.615 1.00
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 1513
Gene Symbol: CTSK
CTSK 		cathepsin K 0.497 0.808 3.1E-05
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 113246
Gene Symbol: C12orf57
C12orf57 		chromosome 12 open reading frame 57 0.641 0.500 5.2E-05
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 64421
Gene Symbol: DCLRE1C
DCLRE1C 		DNA cross-link repair 1C 0.544 0.808 2.5E-07
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 3981
Gene Symbol: LIG4
LIG4 		DNA ligase 4 0.478 0.846 4.2E-06
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		DNA methyltransferase 3 alpha 0.445 0.846 7.4E-39
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 2313
Gene Symbol: FLI1
FLI1 		Fli-1 proto-oncogene, ETS transcription factor 0.468 0.692 0.99
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		gap junction protein alpha 1 0.393 0.885 0.16
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 23426
Gene Symbol: GRIP1
GRIP1 		glutamate receptor interacting protein 1 0.581 0.769 0.51
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 2879
Gene Symbol: GPX4
GPX4 		glutathione peroxidase 4 0.516 0.808 4.8E-05
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 2719
Gene Symbol: GPC3
GPC3 		glypican 3 0.466 0.808 1.00
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 2239
Gene Symbol: GPC4
GPC4 		glypican 4 0.547 0.769 0.93
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 8200
Gene Symbol: GDF5
GDF5 		growth differentiation factor 5 0.511 0.692 0.67
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0