Disease Term Disease ID Gene Symbol References
Osteopenia C0029453 ALPL 26773408
ATP7A
AVP
CCND1
BRAF
CAV1
SERPINH1
SCARB2
COL1A1
COL1A2 26938784
COL7A1
CYP19A1
CYP27A1 24381012
DDOST
DHCR7 24381012
DUSP6
ELANE
ELN
ENG
ERCC2
ERCC3
ESR1 18505767
EXT2
FBN1
FBN2
FGF8
FGFR1
FGFR2
FLG
FOS
FSHR
NR5A1
FUT8
GATA1
GBA
GC 24381012
GFI1
GLI2
GNAS
GNRH1
GNRHR
GPR35
GTF2E2
GTF2I
HPGD
HRAS
HSD17B4
IGF1 11014614
ANOS1
KCNJ1
KCNMA1 21695131
KISS1
KRAS
LIFR
LIMK1
LMNA
LRP2 10052453
LRP5
MECP2
MEN1
MGAT2
MMP1
MMP2 17440987
MMP14
MST1
MTAP
NAGA
TONSL
NOTCH2
NPR2
NRAS
OTX2
P4HB
PDGFRB
PEX6
PLOD2
PLS3
PMM2
POU1F1
PPARG
PRKACA
PRKAR1A
PRLR
PROP1
PSAP
PSMB8
PTH1R
PTPN11
PURA
PYCR1
ALDH18A1
RFC2
RPL11
SKI
SLC12A1
SLC34A1
SLC20A1 26773408
SLC20A2
SMARCD2
SMPD1
SOX3
SRP54
STAT1
STAT3
TAC3
TACR3
TAF1
TCF4
TRPS1
SLC35A2 30817854
UROS
CLIP2
RNF113A
USP9X
GNPAT
DCHS1
EED
GPAA1
DPM2
HESX1
FGF17
SLC5A6 29669219
PLOD3
BAZ1B
AIP
SLC7A7
BMP15
GCM2
SLC9A3R1
COG1
HS6ST1
RECQL4
CRIPT
EIF2AK3
CHST3
ADAMTS2
GTF2IRD1
ADAMTSL2
PLEKHM1
SEC24D
MAFB
FARSB
IRX5
ZMPSTE24
TCIRG1
CRTAP
AGPAT2
AFG3L2 20725928
POLR3A
B4GALT7
EXOC6B 23422942, 25256811
SPIDR
ATP6V0A2
NSMF
PHGDH
B3GAT3
SLC17A5
BSCL2
TBL2
ANKRD11 17986521
PSMC3IP
PSAT1
SMARCAL1
GEMIN4
PDE11A
MLXIPL
SBDS
MBTPS2
PIGT
MAGEL2
RNF125
FKBP14
TMEM38B
TRPV6
CHD7
IARS2
WDR11
ADCY10
MRPS22
NUP107
PROK2
FKBP10
CDH23
SLC39A8
XYLT2
P3H1
NSD1
GZF1
GNPTAB
CDC73
EFL1
FAT4
ALG13
STN1
DCAF17
CTC1 22267198
SPRY4
TUBB6 20725928
KISS1R
COX4I2
PIGY
LHX4
RSPRY1
CREB3L1
TMEM67
SLC39A13
GORAB
ANTXR2
CYP2R1 24381012
PROKR2
DNAJC21
MPLKIP
PHOSPHO1 26773408
SGMS2
TAPT1
ANO5
CAVIN1
UNC80
SH3PXD2B
FLG-AS1
IFITM5
GTF2H5
RNU4ATAC