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: 9939
Gene Symbol: RBM8A
RBM8A
RNA binding motif protein 8A 0.604 0.692 0.57
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3
leiomodin 3 0.700 0.423 1.6E-07
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 55325
Gene Symbol: UFSP2
UFSP2
UFM1 specific peptidase 2 0.736 0.192 3.1E-06
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 54808
Gene Symbol: DYM
DYM
dymeclin 0.563 0.769 3.6E-13
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 5251
Gene Symbol: PHEX
PHEX
phosphate regulating endopeptidase homolog X-linked 0.548 0.808 1.00
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 51715
Gene Symbol: RAB23
RAB23
RAB23, member RAS oncogene family 0.541 0.654 5.6E-03
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1
ectonucleotide pyrophosphatase/phosphodiesterase 1 0.498 0.808 5.0E-08
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
origin recognition complex subunit 1 0.595 0.654 1.7E-14
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
discoidin domain receptor tyrosine kinase 2 0.541 0.769 0.55
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 4796
Gene Symbol: TONSL
TONSL
tonsoku like, DNA repair protein 0.653 0.615 2.6E-13
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 4703
Gene Symbol: NEB
NEB
nebulin 0.608 0.692 4.6E-41
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 4507
Gene Symbol: MTAP
MTAP
methylthioadenosine phosphorylase 0.514 0.731 7.6E-08
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 579
Gene Symbol: NKX3-2
NKX3-2
NK3 homeobox 2 0.736 0.308 0.64
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
thyroid hormone receptor interactor 11 0.595 0.654 1.7E-12
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 9060
Gene Symbol: PAPSS2
PAPSS2
3'-phosphoadenosine 5'-phosphosulfate synthase 2 0.682 0.462 2.0E-10
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 8838
Gene Symbol: CCN6
CCN6
cellular communication network factor 6 0.568 0.731 6.2E-04
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 8318
Gene Symbol: CDC45
CDC45
cell division cycle 45 0.588 0.692 4.6E-05
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 79631
Gene Symbol: EFL1
EFL1
elongation factor like GTPase 1 0.638 0.577 5.1E-08
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 7421
Gene Symbol: VDR
VDR
vitamin D receptor 0.352 0.885 1.7E-05
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 7169
Gene Symbol: TPM2
TPM2
tropomyosin 2 0.530 0.654 2.4E-04
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 65992
Gene Symbol: DDRGK1
DDRGK1
DDRGK domain containing 1 0.736 0.269 3.1E-07
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0
Entrez Id: 6578
Gene Symbol: SLCO2A1
SLCO2A1
solute carrier organic anion transporter family member 2A1 0.578 0.654 2.3E-13
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype 0.100 None 0 0