Disease Term Disease ID Gene Symbol References
Nephrolithiasis C0392525 ACVRL1
AGXT 28893421
APRT
AR
ABCC6
ATP6V1B1 28893421
ATP7B
BRCA2
CACNA1D
CASR
SERPINH1
CDKN1C
CLCN5
CTH
CTNS
CYP24A1 22337913
CYP27A1
ELN
ENG
FBN1
FOXG1
G6PC1
SLC37A4
GDF2
GNAS
GTF2I
HGD
HLA-DRB1
HPRT1
HSPG2
IGF2
KCNQ1
KRT17
LIMK1
SMAD4
MECP2
OCRL
PLCD1
PLG
PPM1B
RFC2
SI
SLC1A1
SLC3A1 28893421
SLC12A1 28893421
SLC34A1 28893421
CDKL5
STXBP1
HNF1B
VDR
CLIP2
BAZ1B
AIP
USP8
SLC9A3R1
GRHPR 28893421
GABBR2
GTF2IRD1
PREPL
AGPAT2
RGS14 22396660
CLDN16 28893421
KCNQ1OT1
SLC7A9
NTNG1
VAX2 28893421
SETBP1
BSCL2
TBL2
CYFIP2
BTNL2
CDH23
NOD2
CDC73
ARMC5
CAMKMT
ANTXR1
MGME1
ADAMTSL1
CLDN19 28893421
DGKH 22396660
H19
H19-ICR