Phenotype: Hemorrhage of the eye (HP:0011885)
Associated genes and diseases:
gene_symbol: GCDH
disease_id: ORPHA:25
disease_name: Glutaryl-CoA dehydrogenase deficiency
GA1
GCDHD
Glutaric acidemia type 1
Glutaric aciduria type 1
Glutaryl-coenzyme A dehydrogenase deficiency
gene_symbol: IFNG
disease_id: ORPHA:88
disease_name: Idiopathic aplastic anemia
Idiopathic bone marrow failure
gene_symbol: PRF1
disease_id: ORPHA:88
disease_name: Idiopathic aplastic anemia
Idiopathic bone marrow failure
gene_symbol: TERC
disease_id: ORPHA:88
disease_name: Idiopathic aplastic anemia
Idiopathic bone marrow failure
gene_symbol: SBDS
disease_id: ORPHA:88
disease_name: Idiopathic aplastic anemia
Idiopathic bone marrow failure
gene_symbol: TERT
disease_id: ORPHA:88
disease_name: Idiopathic aplastic anemia
Idiopathic bone marrow failure
gene_symbol: TREX1
disease_id: OMIM:192315
disease_name: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS
gene_symbol: ENPP1
disease_id: ORPHA:51608
disease_name: Generalized arterial calcification of infancy
Idiopathic infantile arterial calcification
Idiopathic obliterative arteriopathy
Infantile arteriosclerosis
Occlusive infantile arteriopathy
gene_symbol: ENPP1
disease_id: ORPHA:758
disease_name: Pseudoxanthoma elasticum
Gronblad-Strandberg-Touraine syndrome
PXE
gene_symbol: ABCC6
disease_id: ORPHA:51608
disease_name: Generalized arterial calcification of infancy
Idiopathic infantile arterial calcification
Idiopathic obliterative arteriopathy
Infantile arteriosclerosis
Occlusive infantile arteriopathy
gene_symbol: ABCC6
disease_id: OMIM:177850
disease_name: PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE
gene_symbol: ABCC6
disease_id: OMIM:264800
disease_name: PSEUDOXANTHOMA ELASTICUM
gene_symbol: ABCC6
disease_id: ORPHA:758
disease_name: Pseudoxanthoma elasticum
Gronblad-Strandberg-Touraine syndrome
PXE
gene_symbol: ERCC8
disease_id: ORPHA:90324
disease_name: Cockayne syndrome type 3
Cockayne syndrome type III
gene_symbol: ERCC6
disease_id: ORPHA:90324
disease_name: Cockayne syndrome type 3
Cockayne syndrome type III
gene_symbol: COL4A1
disease_id: OMIM:611773
disease_name: ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS
gene_symbol: COL4A1
disease_id: OMIM:175780
disease_name: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES
gene_symbol: COL4A1
disease_id: OMIM:180000
disease_name: RETINAL ARTERIES, TORTUOSITY OF
gene_symbol: LAMB2
disease_id: OMIM:609049
disease_name: PIERSON SYNDROME
gene_symbol: IKBKG
disease_id: ORPHA:464
disease_name: Incontinentia pigmenti
Bloch-Siemens syndrome
Bloch-Sulzberger syndrome
gene_symbol: IKBKG
disease_id: OMIM:308300
disease_name: INCONTINENTIA PIGMENTI
gene_symbol: MYD88
disease_id: ORPHA:33226
disease_name: Waldenström macroglobulinemia
gene_symbol: XYLT1
disease_id: OMIM:264800
disease_name: PSEUDOXANTHOMA ELASTICUM
gene_symbol: XYLT2
disease_id: OMIM:264800
disease_name: PSEUDOXANTHOMA ELASTICUM
gene_symbol: DNM2
disease_id: OMIM:615368
disease_name: LETHAL CONGENITAL CONTRACTURE SYNDROME 5
gene_symbol: DST
disease_id: OMIM:614653
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
gene_symbol: ESAM
disease_id: OMIM:620371
disease_name: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY
gene_symbol: LRP5
disease_id: OMIM:133780
disease_name: EXUDATIVE VITREORETINOPATHY 1
gene_symbol: LRP5
disease_id: ORPHA:891
disease_name: Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR
gene_symbol: LRP5
disease_id: ORPHA:90050
disease_name: Retinopathy of prematurity
ROP
Retrolental fibroplasia
gene_symbol: LRP5
disease_id: OMIM:601813
disease_name: EXUDATIVE VITREORETINOPATHY 4
gene_symbol: RS1
disease_id: ORPHA:792
disease_name: X-linked retinoschisis
X-linked juvenile retinoschisis
XLRS
gene_symbol: RS1
disease_id: OMIM:312700
disease_name: RETINOSCHISIS 1, X-LINKED, JUVENILE
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: ZNF408
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: BEST1
disease_id: OMIM:193220
disease_name: VITREORETINOCHOROIDOPATHY
gene_symbol: PROC
disease_id: OMIM:612304
disease_name: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
gene_symbol: RB1
disease_id: OMIM:180200
disease_name: RETINOBLASTOMA
gene_symbol: BAP1
disease_id: ORPHA:39044
disease_name: Uveal melanoma
Choroid melanoma
Choroidal and ciliary body melanomas
Melanoma of choroid
Melanoma of uvea
gene_symbol: CYSLTR2
disease_id: ORPHA:39044
disease_name: Uveal melanoma
Choroid melanoma
Choroidal and ciliary body melanomas
Melanoma of choroid
Melanoma of uvea
gene_symbol: GNAQ
disease_id: ORPHA:39044
disease_name: Uveal melanoma
Choroid melanoma
Choroidal and ciliary body melanomas
Melanoma of choroid
Melanoma of uvea
gene_symbol: GNA11
disease_id: ORPHA:39044
disease_name: Uveal melanoma
Choroid melanoma
Choroidal and ciliary body melanomas
Melanoma of choroid
Melanoma of uvea
gene_symbol: SF3B1
disease_id: ORPHA:39044
disease_name: Uveal melanoma
Choroid melanoma
Choroidal and ciliary body melanomas
Melanoma of choroid
Melanoma of uvea
gene_symbol: SMC5
disease_id: OMIM:620185
disease_name: ATELIS SYNDROME 2
gene_symbol: NDP
disease_id: ORPHA:91495
disease_name: Persistent hyperplastic primary vitreous
Congenital retinal detachment
NCRNA disease
Non-syndromic congenital retinal non-attachment
PFVS
PHPV
Persistent fetal vasculature syndrome
gene_symbol: ATOH7
disease_id: ORPHA:91495
disease_name: Persistent hyperplastic primary vitreous
Congenital retinal detachment
NCRNA disease
Non-syndromic congenital retinal non-attachment
PFVS
PHPV
Persistent fetal vasculature syndrome
gene_symbol: FZD4
disease_id: ORPHA:91495
disease_name: Persistent hyperplastic primary vitreous
Congenital retinal detachment
NCRNA disease
Non-syndromic congenital retinal non-attachment
PFVS
PHPV
Persistent fetal vasculature syndrome
gene_symbol: FCGR2C
disease_id: ORPHA:3002
disease_name: Immune thrombocytopenia
ITP
Immune thrombocytopenic purpura
gene_symbol: HBB
disease_id: ORPHA:232
disease_name: Sickle cell anemia
gene_symbol: ZEB2
disease_id: ORPHA:261552
disease_name: Mowat-Wilson syndrome due to a ZEB2 point mutation
Hirschsprung disease and intellectual disability due to a ZEB2 point mutation
gene_symbol: RANBP2
disease_id: ORPHA:88619
disease_name: Familial acute necrotizing encephalopathy
ADANE
Recurrent acute necrotizing encephalopathy
gene_symbol: ARPC1B
disease_id: OMIM:617718
disease_name: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA
gene_symbol: ATP6V0A2
disease_id: ORPHA:357074
disease_name: Autosomal recessive cutis laxa type 2, classic type
ARCL2, Debré type
ARCL2, classic type
Autosomal recessive cutis laxa type 2, Debré type
gene_symbol: ATP6V1A
disease_id: ORPHA:357074
disease_name: Autosomal recessive cutis laxa type 2, classic type
ARCL2, Debré type
ARCL2, classic type
Autosomal recessive cutis laxa type 2, Debré type
gene_symbol: ATP6V1E1
disease_id: ORPHA:357074
disease_name: Autosomal recessive cutis laxa type 2, classic type
ARCL2, Debré type
ARCL2, classic type
Autosomal recessive cutis laxa type 2, Debré type
gene_symbol: EFEMP1
disease_id: ORPHA:75376
disease_name: Familial drusen
DHRD
Dominant drusen
Dominant radial drusen
Doyne honeycomb retinal dystrophy
Malattia leventinese
gene_symbol: CFH
disease_id: ORPHA:75376
disease_name: Familial drusen
DHRD
Dominant drusen
Dominant radial drusen
Doyne honeycomb retinal dystrophy
Malattia leventinese
gene_symbol: CFI
disease_id: ORPHA:75376
disease_name: Familial drusen
DHRD
Dominant drusen
Dominant radial drusen
Doyne honeycomb retinal dystrophy
Malattia leventinese
gene_symbol: APOE
disease_id: OMIM:603075
disease_name: MACULAR DEGENERATION, AGE-RELATED, 1
gene_symbol: CFHR3
disease_id: OMIM:603075
disease_name: MACULAR DEGENERATION, AGE-RELATED, 1
gene_symbol: HMCN1
disease_id: OMIM:603075
disease_name: MACULAR DEGENERATION, AGE-RELATED, 1
gene_symbol: CFHR1
disease_id: OMIM:603075
disease_name: MACULAR DEGENERATION, AGE-RELATED, 1