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: 6473
Gene Symbol: SHOX
SHOX
short stature homeobox 0.561 0.654 0.67
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 64131
Gene Symbol: XYLT1
XYLT1
xylosyltransferase 1 0.581 0.731 0.92
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 4318
Gene Symbol: MMP9
MMP9
matrix metallopeptidase 9 0.305 0.923 1.9E-17
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
matrilin 3 0.644 0.385 1.4E-08
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 1300
Gene Symbol: COL10A1
COL10A1
collagen type X alpha 1 chain 0.619 0.500 3.0E-05
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 1299
Gene Symbol: COL9A3
COL9A3
collagen type IX alpha 3 chain 0.569 0.769 3.3E-12
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2
collagen type IX alpha 2 chain 0.572 0.769 1.0E-08
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1
collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
CUI: C0544755
Disease: Genu varum
Genu varum
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: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 124583
Gene Symbol: CANT1
CANT1
calcium activated nucleotidase 1 0.619 0.731 2.5E-06
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 120227
Gene Symbol: CYP2R1
CYP2R1
cytochrome P450 family 2 subfamily R member 1 0.563 0.731 3.8E-10
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 1184
Gene Symbol: CLCN5
CLCN5
chloride voltage-gated channel 5 0.593 0.577 0.99
CUI: C0544755
Disease: Genu varum
Genu varum
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: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 1073
Gene Symbol: CFL2
CFL2
cofilin 2 0.659 0.500 6.4E-05
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 10491
Gene Symbol: CRTAP
CRTAP
cartilage associated protein 0.636 0.654 5.5E-04
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 10324
Gene Symbol: KLHL41
KLHL41
kelch like family member 41 0.682 0.538 1.1E-04
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 1311
Gene Symbol: COMP
COMP
cartilage oligomeric matrix protein 0.503 0.808 1.3E-09
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 142680
Gene Symbol: SLC34A3
SLC34A3
solute carrier family 34 member 3 0.695 0.308 5.9E-14
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 1594
Gene Symbol: CYP27B1
CYP27B1
cytochrome P450 family 27 subfamily B member 1 0.502 0.769 1.9E-07
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 3835
Gene Symbol: KIF22
KIF22
kinesin family member 22 0.552 0.654 9.2E-10
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 3549
Gene Symbol: IHH
IHH
Indian hedgehog signaling molecule 0.573 0.538 0.31
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 3248
Gene Symbol: HPGD
HPGD
15-hydroxyprostaglandin dehydrogenase 0.516 0.731 1.4E-05
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 29072
Gene Symbol: SETD2
SETD2
SET domain containing 2, histone lysine methyltransferase 0.424 0.846 1.00
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 26123
Gene Symbol: TCTN3
TCTN3
tectonic family member 3 0.566 0.615 4.2E-12
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0