Disease Term Disease ID Gene Symbol References
Familial mitral valve prolapse C0340364 DCHS1 26258302
Mitral Valve Prolapse Syndrome C0026267 AEBP1
ANK1
ABCC6
ATP6V1E1
BRAF
CBS
CLIC2
COL1A1
COL1A2
COL2A1
COL3A1
COL5A1
COL5A2
COX7B
ELN
FBN1
FBN2
FLNA
FMR1
GTF2I
HCCS
HRAS
KRAS
LIMK1
LMNA
LTBP3 25899461
SMAD3
MMP2
MMP14
MYH7
ENPP1
PLD1
PLOD1
POLG
PTPN11
RAF1
RFC2
RPL5
RPS6KA3
RYR1
SKI
SLC6A2 10684912
MAP3K7
TGFB2
TGFBR1
TNXB
TPM2
TPM3
TRPS1
TTN
VWF
CLIP2
PCGF2
DCHS1
BAZ1B
FIBP
CHST3
GTF2IRD1
MED12
PRDM5
TAB2
SMG6 26301497
B3GAT3
SACS
TBL2
DSE
LMCD1 26301497
NDUFB11
BCOR
PACS1
SELENON
XYLT1
XYLT2
ZNF469
MYPN
GLIS1 26301497
VPS13B
SH3PXD2B
LMCD1-AS1 26301497
MITRAL VALVE PROLAPSE, MYXOMATOUS 2 C1843003 DCHS1 26258302