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: 1184
Gene Symbol: CLCN5
CLCN5
chloride voltage-gated channel 5 0.593 0.577 0.99
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity
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: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity
phenotype 0.100 None 0 0
Entrez Id: 54
Gene Symbol: ACP5
ACP5
acid phosphatase 5, tartrate resistant 0.561 0.731 7.9E-02
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity
phenotype 0.100 None 0 0
Entrez Id: 54187
Gene Symbol: NANS
NANS
N-acetylneuraminate synthase 0.545 0.692
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity
phenotype 0.100 None 0 0
Entrez Id: 54808
Gene Symbol: DYM
DYM
dymeclin 0.563 0.769 3.6E-13
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity
phenotype 0.100 None 0 0
Entrez Id: 55699
Gene Symbol: IARS2
IARS2
isoleucyl-tRNA synthetase 2, mitochondrial 0.590 0.654 8.1E-02
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity
phenotype 0.100 None 0 0
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
parathyroid hormone 1 receptor 0.544 0.731 0.57
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity
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: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity
phenotype 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity
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: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity
phenotype 0.100 None 0 0
Entrez Id: 633
Gene Symbol: BGN
BGN
biglycan 0.484 0.808 0.45
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity
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: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity
phenotype 0.100 None 0 0
Entrez Id: 7421
Gene Symbol: VDR
VDR
vitamin D receptor 0.352 0.885 1.7E-05
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity
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: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity
phenotype 0.100 None 0 0
Entrez Id: 83452
Gene Symbol: RAB33B
RAB33B
RAB33B, member RAS oncogene family 0.821 0.192 0.68
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity
phenotype 0.100 None 0 0
Entrez Id: 846
Gene Symbol: CASR
CASR
calcium sensing receptor 0.410 0.846 4.7E-02
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity
phenotype 0.100 None 0 0
Entrez Id: 5130
Gene Symbol: PCYT1A
PCYT1A
phosphate cytidylyltransferase 1, choline, alpha 0.485 0.885 2.0E-05
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity
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: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity
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: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity
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: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity
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: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity
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: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity
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: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity
phenotype 0.100 None 0 0
Entrez Id: 23169
Gene Symbol: SLC35D1
SLC35D1
solute carrier family 35 member D1 0.736 0.385 3.6E-04
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity
phenotype 0.100 None 0 0
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
exocyst complex component 6B 0.682 0.577 0.12
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity
phenotype 0.100 None 0 0