| Amelogenesis Imperfecta |
C0002452 |
ACP4
|
Causal
Pathogenic evidence from ClinVar
|
28513613 |
ClinVar |
|
AMBN
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
AMELX
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
COL17A1
|
Causal
Pathogenic evidence from ClinVar
|
8669466 |
ClinVar |
|
ENAM
|
Causal
Pathogenic evidence from ClinVar
|
15649948, 17652207, 28334996 |
ClinVar |
|
FAM20A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
FAM83H
|
Causal
Pathogenic evidence from ClinVar
|
18484629, 19407157 |
ClinVar |
|
ITGB6
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KLK4
|
Causal
Pathogenic evidence from ClinVar
|
28611678 |
ClinVar |
|
LAMB3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MMP20
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ODAPH
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
RELT
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SLC10A7
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SLC24A4
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
WDR72
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
AMTN
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
27412008 |
- |
| Amelogenesis imperfecta local hypoplastic form |
C0399367 |
ACP4
|
Causal
Pathogenic evidence from ClinVar
|
27843125 |
ClinVar |
|
AMBN
|
Causal
Pathogenic evidence from ClinVar
|
24858907 |
ClinVar |
|
ENAM
|
Causal
Pathogenic evidence from ClinVar
|
11978766, 14684688 |
ClinVar |
|
ITGB6
|
Causal
Pathogenic evidence from ClinVar
|
24305999 |
ClinVar |
|
LAMB3
|
Causal
Pathogenic evidence from ClinVar
|
23632796 |
ClinVar |
|
RELT
|
Causal
Pathogenic evidence from ClinVar
|
30506946 |
ClinVar |
| AMELOGENESIS IMPERFECTA, TYPE IJ |
C4310630 |
ACP4
|
Causal
Pathogenic evidence from ClinVar
|
27843125, 28513613 |
ClinVar |
| AMELOGENESIS IMPERFECTA, TYPE IF |
C4225394 |
AMBN
|
Causal
Pathogenic evidence from ClinVar
|
26502894 |
ClinVar |
| Amelogenesis Imperfecta hypomaturation type |
C0399372 |
AMELX
|
Causal
Pathogenic evidence from ClinVar
|
23251683 |
ClinVar |
|
GPR68
|
Causal
Pathogenic evidence from ClinVar
|
27693231 |
ClinVar |
|
KLK4
|
Causal
Pathogenic evidence from ClinVar
|
21597265 |
ClinVar |
|
MMP20
|
Causal
Pathogenic evidence from ClinVar
|
15744043 |
ClinVar |
|
ODAPH
|
Causal
Pathogenic evidence from ClinVar
|
22901946 |
ClinVar |
|
SLC24A4
|
Causal
Pathogenic evidence from ClinVar
|
24621671 |
ClinVar |
|
WDR72
|
Causal
Pathogenic evidence from ClinVar
|
19853237 |
ClinVar |
|
AMTN
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
27412008 |
- |
| Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth |
C1845053 |
AMELX
|
Causal
Pathogenic evidence from ClinVar
|
7599636, 7782077, 8406474, 9188994, 10669095, 15111628 |
ClinVar |
| Amelogenesis Imperfecta, Type IB |
C0399368 |
ENAM
|
Causal
Pathogenic evidence from ClinVar
|
11487571, 11978766, 20439930, 25789606, 28334996 |
ClinVar |
| Amelogenesis Imperfecta, Type Ic |
C2673923 |
ENAM
|
Causal
Pathogenic evidence from ClinVar
|
14684688, 20439930, 21597265, 25789606, 28334996 |
ClinVar |
| Amelogenesis imperfecta nephrocalcinosis |
C2931783 |
FAM20A
|
Causal
Pathogenic evidence from ClinVar
|
21549343, 21990045, 22732358, 23434854, 23468644, 23697977, 24196488, 24259279, 24756937, 25636655, 25789606, 25827751 |
ClinVar |
| Amelogenesis Imperfecta, Type III |
C0399376 |
FAM83H
|
Causal
Pathogenic evidence from ClinVar
|
18252228, 26142250 |
ClinVar |
|
ITGB6
|
Causal
Pathogenic evidence from ClinVar
|
24319098 |
ClinVar |
|
SLC24A4
|
Causal
Pathogenic evidence from ClinVar
|
23375655 |
ClinVar |
|
AMTN
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
27412008 |
- |
| AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6 |
C4310665 |
GPR68
|
Causal
Pathogenic evidence from ClinVar
|
27693231 |
ClinVar |
| AMELOGENESIS IMPERFECTA, TYPE IH |
C4015557 |
ITGB6
|
Causal
Pathogenic evidence from ClinVar
|
24305999, 24319098, 26695873 |
ClinVar |
| Amelogenesis imperfecta pigmented hypomaturation type |
C1290537 |
KLK4
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
C2673922 |
KLK4
|
Causal
Pathogenic evidence from ClinVar
|
28611678 |
ClinVar |
| AMELOGENESIS IMPERFECTA, TYPE IA |
C4011403 |
LAMB3
|
Causal
Pathogenic evidence from ClinVar
|
27220909 |
ClinVar |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
C2675858 |
MMP20
|
Causal
Pathogenic evidence from ClinVar
|
23625376, 28473773, 28659819 |
ClinVar |
| AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4 |
C3553830 |
ODAPH
|
Causal
Pathogenic evidence from ClinVar
|
22901946 |
ClinVar |
| AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5 |
C4014578 |
SLC24A4
|
Causal
Pathogenic evidence from ClinVar
|
23375655, 24621671, 27129268 |
ClinVar |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
C2750771 |
WDR72
|
Causal
Pathogenic evidence from ClinVar
|
19853237, 27259663, 30028003 |
ClinVar |
