Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated genes and diseases:
gene_symbol: AMELX
disease_id: OMIM:301200
disease_name: AMELOGENESIS IMPERFECTA, TYPE IE
gene_symbol: ACP4
disease_id: OMIM:617297
disease_name: AMELOGENESIS IMPERFECTA, TYPE IJ
gene_symbol: DNAJC21
disease_id: OMIM:617052
disease_name: BONE MARROW FAILURE SYNDROME 3
gene_symbol: ROGDI
disease_id: OMIM:226750
disease_name: KOHLSCHUTTER-TONZ SYNDROME
gene_symbol: ROGDI
disease_id: ORPHA:1946
disease_name: Amelocerebrohypohidrotic syndrome
Epilepsy-dementia-amelogenesis imperfecta syndrome
Kohlschütter-Tönz syndrome
gene_symbol: ITGB6
disease_id: OMIM:616221
disease_name: AMELOGENESIS IMPERFECTA, TYPE IH
gene_symbol: FAM20A
disease_id: OMIM:204690
disease_name: AMELOGENESIS IMPERFECTA, TYPE IG
gene_symbol: FAM20A
disease_id: ORPHA:1031
disease_name: Enamel-renal syndrome
Amelogenesis imperfecta-nephrocalcinosis syndrome
gene_symbol: SLC10A7
disease_id: OMIM:618363
disease_name: SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS
gene_symbol: SMARCD2
disease_id: OMIM:617475
disease_name: SPECIFIC GRANULE DEFICIENCY 2
gene_symbol: RELT
disease_id: OMIM:618386
disease_name: AMELOGENESIS IMPERFECTA, TYPE IIIC
gene_symbol: WDR72
disease_id: OMIM:613211
disease_name: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3
gene_symbol: ORAI1
disease_id: OMIM:612782
disease_name: IMMUNODEFICIENCY 9
gene_symbol: GPR68
disease_id: OMIM:617217
disease_name: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6
gene_symbol: ENAM
disease_id: OMIM:204650
disease_name: AMELOGENESIS IMPERFECTA, TYPE IC
gene_symbol: ENAM
disease_id: OMIM:104500
disease_name: AMELOGENESIS IMPERFECTA, TYPE IB
gene_symbol: STIM1
disease_id: OMIM:612783
disease_name: IMMUNODEFICIENCY 10
gene_symbol: FAM83H
disease_id: OMIM:130900
disease_name: AMELOGENESIS IMPERFECTA, TYPE IIIA
gene_symbol: SP6
disease_id: OMIM:620104
disease_name: AMELOGENESIS IMPERFECTA, TYPE IK
gene_symbol: TMEM165
disease_id: OMIM:614727
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk
gene_symbol: SLC13A5
disease_id: ORPHA:1946
disease_name: Amelocerebrohypohidrotic syndrome
Epilepsy-dementia-amelogenesis imperfecta syndrome
Kohlschütter-Tönz syndrome
gene_symbol: SLC13A5
disease_id: OMIM:615905
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 25, WITH AMELOGENESIS IMPERFECTA
gene_symbol: PEX1
disease_id: OMIM:234580
disease_name: HEIMLER SYNDROME 1
gene_symbol: MMP20
disease_id: OMIM:612529
disease_name: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2
gene_symbol: AMBN
disease_id: OMIM:616270
disease_name: AMELOGENESIS IMPERFECTA, TYPE IF
gene_symbol: LTBP3
disease_id: OMIM:601216
disease_name: DENTAL ANOMALIES AND SHORT STATURE
gene_symbol: LAMA3
disease_id: OMIM:245660
disease_name: LARYNGOONYCHOCUTANEOUS SYNDROME
gene_symbol: CNNM4
disease_id: ORPHA:1873
disease_name: Jalili syndrome
Cone rod dystrophy-amelogenesis imperfecta syndrome
gene_symbol: CLDN19
disease_id: OMIM:248190
disease_name: HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT
gene_symbol: CLDN16
disease_id: OMIM:248250
disease_name: HYPOMAGNESEMIA 3, RENAL
gene_symbol: SLC24A4
disease_id: OMIM:615887
disease_name: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5
gene_symbol: SATB1
disease_id: OMIM:619229
disease_name: KOHLSCHUTTER-TONZ SYNDROME-LIKE
gene_symbol: ODAPH
disease_id: OMIM:614832
disease_name: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4
gene_symbol: KLK4
disease_id: OMIM:204700
disease_name: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1
gene_symbol: LAMB3
disease_id: OMIM:104530
disease_name: AMELOGENESIS IMPERFECTA, TYPE IA
gene_symbol: DLX3
disease_id: OMIM:104510
disease_name: AMELOGENESIS IMPERFECTA, TYPE IV
gene_symbol: AMTN
disease_id: OMIM:617607
disease_name: AMELOGENESIS IMPERFECTA, TYPE IIIB
gene_symbol: PEX6
disease_id: OMIM:616617
disease_name: HEIMLER SYNDROME 2