Phenotype: Dentinogenesis imperfecta (HP:0000703)
Associated genes and diseases:
gene_symbol: PHEX
disease_id: ORPHA:89936
disease_name: X-linked hypophosphatemia
X-linked hypophosphatemic rickets
XLH
gene_symbol: TRIP11
disease_id: ORPHA:166272
disease_name: Odontochondrodysplasia
Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome
Goldblatt chondrodysplasia
Goldblatt syndrome
ODCD
gene_symbol: TRIP11
disease_id: OMIM:184260
disease_name: ODONTOCHONDRODYSPLASIA 1
gene_symbol: B3GALT6
disease_id: ORPHA:536467
disease_name: B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
B3GALT6-related spEDS
B3GALT6-related spondylodysplastic EDS
Beta3GalT6-deficient EDS
Ehlers-Danlos syndrome progeroid type 2
spEDS-B3GALT6
gene_symbol: CCDC134
disease_id: OMIM:619795
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XXII
gene_symbol: P4HB
disease_id: OMIM:112240
disease_name: COLE-CARPENTER SYNDROME 1
gene_symbol: ZNF469
disease_id: OMIM:229200
disease_name: BRITTLE CORNEA SYNDROME 1
gene_symbol: STAT3
disease_id: ORPHA:2314
disease_name: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
AD-HIES due to STAT3 deficiency
Autosomal dominant HIES due to STAT3 deficiency
Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency
Buckley syndrome
Job syndrome
gene_symbol: DSPP
disease_id: OMIM:125500
disease_name: DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III
gene_symbol: DSPP
disease_id: OMIM:125490
disease_name: DENTINOGENESIS IMPERFECTA 1
gene_symbol: DSPP
disease_id: OMIM:605594
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1
gene_symbol: CRTAP
disease_id: OMIM:610682
disease_name: OSTEOGENESIS IMPERFECTA, TYPE VII
gene_symbol: PPIB
disease_id: OMIM:259440
disease_name: OSTEOGENESIS IMPERFECTA, TYPE IX
gene_symbol: COL1A1
disease_id: OMIM:259420
disease_name: OSTEOGENESIS IMPERFECTA, TYPE III
gene_symbol: COL1A1
disease_id: OMIM:166220
disease_name: OSTEOGENESIS IMPERFECTA, TYPE IV
gene_symbol: COL1A1
disease_id: OMIM:166200
disease_name: OSTEOGENESIS IMPERFECTA, TYPE I
gene_symbol: COL1A2
disease_id: OMIM:259420
disease_name: OSTEOGENESIS IMPERFECTA, TYPE III
gene_symbol: COL1A2
disease_id: OMIM:166220
disease_name: OSTEOGENESIS IMPERFECTA, TYPE IV
gene_symbol: SPARC
disease_id: OMIM:616507
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XVII
gene_symbol: IFITM5
disease_id: OMIM:610967
disease_name: OSTEOGENESIS IMPERFECTA, TYPE V
gene_symbol: FKBP10
disease_id: OMIM:610968
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XI
gene_symbol: MBTPS2
disease_id: OMIM:301014
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XIX
gene_symbol: SEC24D
disease_id: OMIM:616294
disease_name: COLE-CARPENTER SYNDROME 2
gene_symbol: MIA3
disease_id: OMIM:619269
disease_name: ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES
gene_symbol: TMEM38B
disease_id: OMIM:615066
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XIV
gene_symbol: SERPINF1
disease_id: OMIM:613982
disease_name: OSTEOGENESIS IMPERFECTA, TYPE VI
gene_symbol: BMP1
disease_id: OMIM:614856
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XIII
gene_symbol: SERPINH1
disease_id: OMIM:613848
disease_name: OSTEOGENESIS IMPERFECTA, TYPE X
gene_symbol: SP7
disease_id: OMIM:613849
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XII
gene_symbol: P3H1
disease_id: OMIM:610915
disease_name: OSTEOGENESIS IMPERFECTA, TYPE VIII