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	amelogenesis imperfecta

Disease ID	666
Disease	amelogenesis imperfecta
Definition	A clinically and genetically heterogeneous group of hereditary conditions characterized by malformed DENTAL ENAMEL, usually involving DENTAL ENAMEL HYPOPLASIA and/or TOOTH HYPOMINERALIZATION.
Synonym	ai - amelogenesis imperfecta amelogenesis imperfecta (disorder) amelogenesis imperfecta [disease/finding] congenital enamel hypoplasia
Orphanet	ORPHANET:88661
DOID	DOID:2187
UMLS	C0002452
MeSH	D000567
SNOMED-CT	SNOMEDCT_US_2016_09_01:78494001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:6) C0035334 \| cone-rod dystrophy \| 3 C0031106 \| aggressive periodontitis \| 1 C0018552 \| hamartomas \| 1 C0014527 \| epidermolysis bullosa \| 1 C0011351 \| hypoplastic enamel \| 1 C0031099 \| periodontitis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:20) 5189 \| PEX1 \| UniProtKB-KW 3914 \| LAMB3 \| UniProtKB-KW;GHR 9622 \| KLK4 \| GHR;UNIPROT;UniProtKB-KW 26504 \| CNNM4 \| UniProtKB-KW 10117 \| ENAM \| CTD_human;GHR;UNIPROT;UniProtKB-KW 286077 \| FAM83H \| CTD_human;GHR;UNIPROT;UniProtKB-KW 4054 \| LTBP3 \| CTD_human;UniProtKB-KW 265 \| AMELX \| GHR;UNIPROT;UniProtKB-KW 79641 \| ROGDI \| UniProtKB-KW 1747 \| DLX3 \| UniProtKB-KW;UNIPROT 5190 \| PEX6 \| UniProtKB-KW 123041 \| SLC24A4 \| UniProtKB-KW;GHR 9313 \| MMP20 \| GHR;UNIPROT;UniProtKB-KW 54757 \| FAM20A \| UniProtKB-KW 256764 \| WDR72 \| UniProtKB-KW;GHR 93650 \| ACPT \| UniProtKB-KW 258 \| AMBN \| UniProtKB-KW 152816 \| C4orf26 \| UniProtKB-KW;GHR 8111 \| GPR68 \| UniProtKB-KW 3694 \| ITGB6 \| UniProtKB-KW;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:71) 58 \| ACTA1 \| 1.577 \| DISEASES 265 \| AMELX \| 7.436 \| DISEASES 401138 \| AMTN \| 4.859 \| DISEASES 395 \| ARHGAP6 \| 3.322 \| DISEASES 152816 \| C4orf26 \| 5.034 \| DISEASES 1183 \| CLCN4 \| 1.974 \| DISEASES 1184 \| CLCN5 \| 1.763 \| DISEASES 1186 \| CLCN7 \| 1.271 \| DISEASES 26507 \| CNNM1 \| 3.043 \| DISEASES 54805 \| CNNM2 \| 2.164 \| DISEASES 26504 \| CNNM4 \| 5.59 \| DISEASES 1308 \| COL17A1 \| 2.526 \| DISEASES 9276 \| COPB2 \| 2.68 \| DISEASES 1435 \| CSF1 \| 1.003 \| DISEASES 1544 \| CYP1A2 \| 2.288 \| DISEASES 1589 \| CYP21A2 \| 1.245 \| DISEASES 1565 \| CYP2D6 \| 4.261 \| DISEASES 51428 \| DDX41 \| 1.757 \| DISEASES 1747 \| DLX3 \| 5.64 \| DISEASES 10117 \| ENAM \| 7.465 \| DISEASES 64167 \| ERAP2 \| 1.672 \| DISEASES 54757 \| FAM20A \| 6.02 \| DISEASES 56975 \| FAM20C \| 3.924 \| DISEASES 286077 \| FAM83H \| 6.505 \| DISEASES 57818 \| G6PC2 \| 1.284 \| DISEASES 645073 \| GAGE12G \| 2.301 \| DISEASES 8111 \| GPR68 \| 2.023 \| DISEASES 3123 \| HLA-DRB1 \| 1.632 \| DISEASES 3376 \| IARS \| 1.45 \| DISEASES 100423062 \| IGLL5 \| 1.002 \| DISEASES 3601 \| IL15RA \| 2.179 \| DISEASES 3758 \| KCNJ1 \| 1.884 \| DISEASES 3804 \| KIR2DL3 \| 1.202 \| DISEASES 3811 \| KIR3DL1 \| 1.207 \| DISEASES 9622 \| KLK4 \| 4.743 \| DISEASES 3914 \| LAMB3 \| 3.41 \| DISEASES 3916 \| LAMP1 \| 1.267 \| DISEASES 64327 \| LMBR1 \| 4.038 \| DISEASES 4018 \| LPA \| 1.128 \| DISEASES 4065 \| LY75 \| 1.287 \| DISEASES 56955 \| MEPE \| 1.18 \| DISEASES 64386 \| MMP25 \| 5.564 \| DISEASES 4487 \| MSX1 \| 2.52 \| DISEASES 4512 \| MT-CO1 \| 3.626 \| DISEASES 4513 \| MT-CO2 \| 1.031 \| DISEASES 4519 \| MT-CYB \| 2.834 \| DISEASES 4536 \| MT-ND2 \| 1.129 \| DISEASES 4795 \| NFKBIL1 \| 1.835 \| DISEASES 4817 \| NIT1 \| 2.785 \| DISEASES 54959 \| ODAM \| 2.113 \| DISEASES 5083 \| PAX9 \| 1.393 \| DISEASES 5116 \| PCNT \| 1.138 \| DISEASES 5447 \| POR \| 1.458 \| DISEASES 374308 \| PTCHD3 \| 2.264 \| DISEASES 5867 \| RAB4A \| 1.403 \| DISEASES 79641 \| ROGDI \| 5.309 \| DISEASES 51091 \| SEPSECS \| 4.439 \| DISEASES 5268 \| SERPINB5 \| 1.249 \| DISEASES 284111 \| SLC13A5 \| 1.355 \| DISEASES 123041 \| SLC24A4 \| 3.798 \| DISEASES 8671 \| SLC4A4 \| 1.767 \| DISEASES 677833 \| SNORA54 \| 2.21 \| DISEASES 80320 \| SP6 \| 2.082 \| DISEASES 79718 \| TBL1XR1 \| 1.424 \| DISEASES 7009 \| TMBIM6 \| 2.666 \| DISEASES 121256 \| TMEM132D \| 1.635 \| DISEASES 8718 \| TNFRSF25 \| 2.423 \| DISEASES 162514 \| TRPV3 \| 1.693 \| DISEASES 7286 \| TUFT1 \| 5.649 \| DISEASES 7390 \| UROS \| 1.101 \| DISEASES 256764 \| WDR72 \| 5.524 \| DISEASES
Locus	(Waiting for update.)

Disease ID	666
Disease	amelogenesis imperfecta
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:10) HP:0010807 \| Open bite between upper and lower teeth \| 4 HP:0000679 \| Taurodont \| 3 HP:0200095 \| Anterior open bite \| 2 HP:0012531 \| Pain \| 1 HP:0006283 \| Failure of eruption of multiple teeth \| 1 HP:0000212 \| Gingival overgrowth \| 1 HP:0000164 \| Abnormality of the teeth \| 1 HP:0001289 \| Confusion \| 1 HP:0000704 \| Pyorrhea \| 1 HP:0001571 \| Impacted teeth \| 1

Disease ID	666
Disease	amelogenesis imperfecta
Manually Symptom	UMLS \| Name(Total Manually Symptoms:2) C0035334 \| cone-rod dystrophy C0011430 \| dentin dysplasia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0035334 \| cone-rod dystrophy \| 3 C0011430 \| dentin dysplasia \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs387906406	18362318	1747	DLX3	umls:C0002452	BeFree	Recently, another DLX3 gene mutation (c.561_562delCT) was reported to cause amelogenesis imperfecta with taurodontism (AIHHT).	0.001085767	2008	DLX3	17	49991819	AG	-
rs387906406	18203197	1747	DLX3	umls:C0002452	BeFree	Previously, the DLX3 c.561_562delCT mutation was associated with autosomal dominant amelogenesis imperfecta with taurodontism.	0.001085767	2008	DLX3	17	49991819	AG	-

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	666
Disease	amelogenesis imperfecta
Case	(Waiting for update.)

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