Disease Term Disease ID Gene Symbol References
Amelogenesis Imperfecta C0002452 AMBN
AMELX
COL17A1 8669466
DLX3
ITGB4
ITGB6
KCNJ1 23341834
LAMA3
LAMB3
LAMC2 26956061
LTBP3 28084688, 25669657
PEX1 27633571
STIM1
TUFT1 7919663
MMP20
KLK4 28611678
ENAM 28334996, 17652207, 15649948
CNNM4
FAM20A
PEX26 28944237
TMEM165 22683087
ROGDI
SLC10A7
ORAI1
RELT
ACP4 28513613
SLC24A4
DNAJC21
ODAPH
WDR72
SLC13A5
FAM83H 18484629, 19407157
AMTN 27412008
Amelogenesis imperfecta local hypoplastic form C0399367 AMBN 24858907
ITGB6 24305999
LAMA3 27827380
LAMB3 23632796
ENAM 11978766, 14684688
RELT 30506946
ACP4 27843125
AMELOGENESIS IMPERFECTA, TYPE IF C4225394 AMBN 26502894
Amelogenesis Imperfecta hypomaturation type C0399372 AMELX 23251683
GPR68 27693231
MMP20 15744043
KLK4 21597265
SLC24A4 24621671
ODAPH 22901946
WDR72 19853237
AMTN 27412008
Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth C1845053 AMELX 7599636, 9188994, 7782077, 10669095, 15111628, 8406474
ARHGAP6
Amelogenesis Imperfecta, Type IV C1863012 DLX3 23949819, 15666299, 26762616
Amelogenesis Imperfecta, Type III C0399376 ITGB6 24319098
SLC24A4 23375655
FAM83H 18252228, 26142250
AMTN 27412008
AMELOGENESIS IMPERFECTA, TYPE IH C4015557 ITGB6 24305999, 26695873, 24319098
AMELOGENESIS IMPERFECTA, TYPE IA C4011403 LAMB3 27220909
Amelogenesis imperfecta nephrocalcinosis C2931783 PRKAR1A
FAM20A 23468644, 24259279, 25827751, 22732358, 24196488, 23434854, 21549343, 25636655, 24756937, 21990045, 25789606, 23697977
LINC01482
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6 C4310665 GPR68 27693231
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 C2675858 MMP20 28659819, 23625376, 28473773
Amelogenesis imperfecta pigmented hypomaturation type C1290537 KLK4
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 C2673922 KLK4 28611678
Amelogenesis Imperfecta, Type IB C0399368 ENAM 25789606, 11487571, 28334996, 11978766, 20439930
Amelogenesis Imperfecta, Type Ic C2673923 ENAM 20439930, 28334996, 14684688, 25789606, 21597265
AMELOGENESIS IMPERFECTA, TYPE IJ C4310630 ACP4 27843125, 28513613
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5 C4014578 SLC24A4 23375655, 24621671, 27129268
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4 C3553830 ODAPH 22901946
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 C2750771 WDR72 30028003, 27259663, 19853237
AMELOGENESIS IMPERFECTA, TYPE IIIB C4539891 AMTN 27412008