Phenotype: Vitreoretinopathy (HP:0007773)
Associated genes and diseases:
gene_symbol: COL18A1
disease_id: OMIM:267750
disease_name: KNOBLOCH SYNDROME 1
gene_symbol: COL18A1
disease_id: ORPHA:1571
disease_name: Knobloch syndrome
Knobloch-Layer syndrome
Retinal detachment-occipital encephalocele syndrome
gene_symbol: COL2A1
disease_id: ORPHA:485
disease_name: Kniest dysplasia
gene_symbol: COL2A1
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL2A1
disease_id: OMIM:183900
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
gene_symbol: COL2A1
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: COL2A1
disease_id: OMIM:108300
disease_name: STICKLER SYNDROME, TYPE I
gene_symbol: NR2E3
disease_id: OMIM:268100
disease_name: ENHANCED S-CONE SYNDROME
gene_symbol: SLC26A2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: SLC26A2
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: XYLT2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: XYLT2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: XYLT2
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: PLOD3
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: PLOD3
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: PLOD3
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: VCAN
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: VCAN
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: GZF1
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: GZF1
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: COL9A1
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL9A1
disease_id: ORPHA:250984
disease_name: Autosomal recessive Stickler syndrome
gene_symbol: COL9A1
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: COL9A2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL9A2
disease_id: OMIM:614284
disease_name: STICKLER SYNDROME, TYPE V
gene_symbol: COL9A2
disease_id: ORPHA:250984
disease_name: Autosomal recessive Stickler syndrome
gene_symbol: COL9A2
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: COL9A3
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL9A3
disease_id: ORPHA:250984
disease_name: Autosomal recessive Stickler syndrome
gene_symbol: COL9A3
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: COL11A1
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL11A1
disease_id: ORPHA:560
disease_name: Marshall syndrome
gene_symbol: COL11A1
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: COL11A2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL11A2
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: KCNJ13
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: KCNJ13
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: LRP2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: LRP2
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: BMP4
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: BMP4
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: SLITRK6
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: SLITRK6
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: P3H2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: P3H2
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: LOXL3
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: LOXL3
disease_id: ORPHA:250984
disease_name: Autosomal recessive Stickler syndrome
gene_symbol: LOXL3
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: NDP
disease_id: ORPHA:891
disease_name: Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR
gene_symbol: CTNNB1
disease_id: ORPHA:891
disease_name: Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR
gene_symbol: TSPAN12
disease_id: ORPHA:891
disease_name: Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR
gene_symbol: LRP5
disease_id: ORPHA:891
disease_name: Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR
gene_symbol: LRP5
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: ZNF408
disease_id: ORPHA:891
disease_name: Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR
gene_symbol: FZD4
disease_id: ORPHA:891
disease_name: Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR
gene_symbol: CAPN5
disease_id: OMIM:193235
disease_name: VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY
gene_symbol: CRB1
disease_id: OMIM:172870
disease_name: PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY
gene_symbol: PAK2
disease_id: OMIM:618458
disease_name: KNOBLOCH SYNDROME 2
gene_symbol: PAK2
disease_id: ORPHA:1571
disease_name: Knobloch syndrome
Knobloch-Layer syndrome
Retinal detachment-occipital encephalocele syndrome
gene_symbol: BMP1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SERPINF1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: COL1A2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: NBAS
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: MESD
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: MIA3
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: KIF5B
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: PHLDB1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: CREB3L1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: P4HB
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: COL1A1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: WNT11
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SLC10A7
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SPARC
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SEC16B
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SEC24D
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: PLOD2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: P3H1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: ALPL
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: P4HA1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SERPINH1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: IFITM5
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: CCDC134
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: CRTAP
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: PLS3
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: B3GAT3
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: B4GALT7
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: TENT5A
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: GORAB
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: TAPT1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SGMS2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: FKBP10
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: XYLT1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: COPB2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SP7
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: AMBN
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: KDELR2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: LIFR
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: DSPP
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: TMEM38B
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: WNT1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: B3GALT6
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: MBTPS2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: CHST3
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: PPIB
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: ERBB3
disease_id: OMIM:607598
disease_name: LETHAL CONGENITAL CONTRACTURE SYNDROME 2
gene_symbol: BAP1
disease_id: OMIM:619762
disease_name: KURY-ISIDOR SYNDROME