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: 9321
Gene Symbol: TRIP11
TRIP11
thyroid hormone receptor interactor 11 0.595 0.654 1.7E-12
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
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: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
phenotype 0.100 None 0 0
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
WD repeat domain 19 0.554 0.769 4.6E-11
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
phenotype 0.100 None 0 0
Entrez Id: 56172
Gene Symbol: ANKH
ANKH
ANKH inorganic pyrophosphate transport regulator 0.606 0.692 0.28
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
phenotype 0.100 None 0 0
Entrez Id: 54808
Gene Symbol: DYM
DYM
dymeclin 0.563 0.769 3.6E-13
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
phenotype 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
phenotype 0.100 None 0 0
Entrez Id: 5307
Gene Symbol: PITX1
PITX1
paired like homeodomain 1 0.561 0.654 0.88
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
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: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
phenotype 0.100 None 0 0
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
SBDS ribosome maturation factor 0.601 0.692 6.2E-05
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
phenotype 0.100 None 0 0
Entrez Id: 64131
Gene Symbol: XYLT1
XYLT1
xylosyltransferase 1 0.581 0.731 0.92
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
phenotype 0.100 None 0 0
Entrez Id: 6424
Gene Symbol: SFRP4
SFRP4
secreted frizzled related protein 4 0.524 0.654 9.3E-05
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
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: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
phenotype 0.100 None 0 0
Entrez Id: 91252
Gene Symbol: SLC39A13
SLC39A13
solute carrier family 39 member 13 0.666 0.538 2.5E-03
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
phenotype 0.100 None 0 0
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
activin A receptor type 1 0.535 0.731 0.33
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
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: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
phenotype 0.100 None 0 0
Entrez Id: 79796
Gene Symbol: ALG9
ALG9
ALG9 alpha-1,2-mannosyltransferase 0.644 0.654 6.4E-04
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
phenotype 0.100 None 0 0
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
dynein cytoplasmic 2 heavy chain 1 0.555 0.731 1.1E-44
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
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: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
phenotype 0.100 None 0 0
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
phenotype 0.100 None 0 0
Entrez Id: 6729
Gene Symbol: SRP54
SRP54
signal recognition particle 54 0.612 0.769 1.00
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
phenotype 0.100 None 0 0
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
phenotype 0.100 None 0 0
Entrez Id: 4318
Gene Symbol: MMP9
MMP9
matrix metallopeptidase 9 0.305 0.923 1.9E-17
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
phenotype 0.100 None 0 0
Entrez Id: 4313
Gene Symbol: MMP2
MMP2
matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
phenotype 0.100 None 0 0
Entrez Id: 1497
Gene Symbol: CTNS
CTNS
cystinosin, lysosomal cystine transporter 0.628 0.538 3.1E-04
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
phenotype 0.100 None 0 0
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
colony stimulating factor 1 receptor 0.448 0.808 0.13
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
phenotype 0.100 None 0 0