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: 23512
Gene Symbol: SUZ12
SUZ12
SUZ12 polycomb repressive complex 2 subunit 0.529 0.577 1.00
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
phenotype 0.400 None 1.000 0 0 2019 2019
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
parathyroid hormone 1 receptor 0.544 0.731 0.57
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
phenotype 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
phenotype 0.100 None 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.401 0.846 1.00
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
phenotype 0.100 None 0 0
Entrez Id: 5468
Gene Symbol: PPARG
PPARG
peroxisome proliferator activated receptor gamma 0.358 0.885 2.9E-02
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
phenotype 0.100 None 0 0
Entrez Id: 5447
Gene Symbol: POR
POR
cytochrome p450 oxidoreductase 0.502 0.769 3.4E-10
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
phenotype 0.100 None 0 0
Entrez Id: 5144
Gene Symbol: PDE4D
PDE4D
phosphodiesterase 4D 0.519 0.846 1.00
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
phenotype 0.100 None 0 0
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
nuclear factor I X 0.547 0.769 1.00
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
phenotype 0.100 None 0 0
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
phenotype 0.100 None 0 0
Entrez Id: 4158
Gene Symbol: MC2R
MC2R
melanocortin 2 receptor 0.582 0.654 3.1E-04
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
phenotype 0.100 None 0 0
Entrez Id: 3973
Gene Symbol: LHCGR
LHCGR
luteinizing hormone/choriogonadotropin receptor 0.528 0.692 5.3E-08
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
phenotype 0.100 None 0 0
Entrez Id: 3953
Gene Symbol: LEPR
LEPR
leptin receptor 0.433 0.808 0.99
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
phenotype 0.100 None 0 0
Entrez Id: 3952
Gene Symbol: LEP
LEP
leptin 0.349 0.846 0.46
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
phenotype 0.100 None 0 0
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
potassium voltage-gated channel subfamily Q member 1 0.485 0.769 4.5E-08
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
phenotype 0.100 None 0 0
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
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: C0545053
Disease: Advanced bone age
Advanced bone age
phenotype 0.100 None 0 0
Entrez Id: 64131
Gene Symbol: XYLT1
XYLT1
xylosyltransferase 1 0.581 0.731 0.92
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
phenotype 0.100 None 0 0
Entrez Id: 8726
Gene Symbol: EED
EED
embryonic ectoderm development 0.588 0.615 1.00
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
phenotype 0.100 None 0 0
Entrez Id: 857
Gene Symbol: CAV1
CAV1
caveolin 1 0.388 0.885 8.3E-03
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
phenotype 0.100 None 0 0
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
SH3 and multiple ankyrin repeat domains 3 0.550 0.731 1.00
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
phenotype 0.100 None 0 0
Entrez Id: 84282
Gene Symbol: RNF135
RNF135
ring finger protein 135 0.686 0.500 2.2E-09
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
phenotype 0.100 None 0 0
Entrez Id: 84068
Gene Symbol: SLC10A7
SLC10A7
solute carrier family 10 member 7 0.711 0.269 2.0E-05
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
phenotype 0.100 None 0 0
Entrez Id: 83550
Gene Symbol: GPR101
GPR101
G protein-coupled receptor 101 0.631 0.538 0.70
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
phenotype 0.100 None 0 0
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
phenotype 0.100 None 0 0
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
ALMS1 centrosome and basal body associated protein 0.559 0.808 4.5E-60
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
phenotype 0.100 None 0 0