TaoMedAI/RareMedData huggingface dataset:
Phenotype: Polycoria (HP:0011500)
Associated genes and diseases:
gene_symbol: COL4A1
disease_id: OMIM:175780
disease_name: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES
gene_symbol: PITX2
disease_id: OMIM:180500
disease_name: AXENFELD-RIEGER SYNDROME, TYPE 1
Phenotype: Anterior lenticonus (HP:0011501)
Associated genes and diseases:
gene_symbol: COL4A4
disease_id: OMIM:203780
disease_name: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
gene_symbol: COL4A4
disease_id: OMIM:301050
disease_name: ALPORT SYNDROME 1, X-LINKED
gene_symbol: COL4A3
disease_id: OMIM:301050
disease_name: ALPORT SYNDROME 1, X-LINKED
gene_symbol: COL4A5
disease_id: OMIM:301050
disease_name: ALPORT SYNDROME 1, X-LINKED
gene_symbol: COL4A5
disease_id: ORPHA:1018
disease_name: X-linked Alport syndrome-diffuse leiomyomatosis
Xq22.3 microdeletion syndrome
gene_symbol: COL4A6
disease_id: ORPHA:1018
disease_name: X-linked Alport syndrome-diffuse leiomyomatosis
Xq22.3 microdeletion syndrome
Phenotype: Posterior lenticonus (HP:0011502)
Associated genes and diseases:
gene_symbol: LAMB2
disease_id: OMIM:609049
disease_name: PIERSON SYNDROME
Phenotype: Bull's eye maculopathy (HP:0011504)
Associated genes and diseases:
gene_symbol: MFSD8
disease_id: OMIM:616170
disease_name: MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
gene_symbol: ABCA4
disease_id: OMIM:604116
disease_name: CONE-ROD DYSTROPHY 3
gene_symbol: ABCA4
disease_id: OMIM:248200
disease_name: STARGARDT DISEASE 1
gene_symbol: TLCD3B
disease_id: OMIM:619531
disease_name: CONE-ROD DYSTROPHY 22
gene_symbol: MAK
disease_id: OMIM:614181
disease_name: RETINITIS PIGMENTOSA 62
gene_symbol: RAX2
disease_id: OMIM:610381
disease_name: CONE-ROD DYSTROPHY 11
gene_symbol: HARS1
disease_id: OMIM:614504
disease_name: USHER SYNDROME, TYPE IIIB
gene_symbol: PROM1
disease_id: OMIM:612657
disease_name: CONE-ROD DYSTROPHY 12
gene_symbol: RPGRIP1
disease_id: OMIM:613826
disease_name: LEBER CONGENITAL AMAUROSIS 6
gene_symbol: TMCO1
disease_id: OMIM:213980
disease_name: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME
gene_symbol: RP2
disease_id: OMIM:312600
disease_name: RETINITIS PIGMENTOSA 2
gene_symbol: CRLS1
disease_id: OMIM:620167
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57
gene_symbol: IMPDH1
disease_id: OMIM:180105
disease_name: RETINITIS PIGMENTOSA 10
gene_symbol: VPS13B
disease_id: OMIM:216550
disease_name: COHEN SYNDROME
Phenotype: Macular flecks (HP:0011507)
Associated genes and diseases:
gene_symbol: ELOVL4
disease_id: OMIM:600110
disease_name: STARGARDT DISEASE 3
Phenotype: Macular hole (HP:0011508)
Associated genes and diseases:
gene_symbol: HLA-A
disease_id: ORPHA:179
disease_name: Birdshot chorioretinopathy
Birdshot chorioretinitis
Birdshot retinochoroiditis
Birdshot retinochoroidopathy
Vitiliginous choroiditis
gene_symbol: PRPH2
disease_id: ORPHA:75377
disease_name: Central areolar choroidal dystrophy
Areolar atrophy of the macula
CACD
Central areolar choroidal sclerosis
gene_symbol: GUCY2D
disease_id: ORPHA:75377
disease_name: Central areolar choroidal dystrophy
Areolar atrophy of the macula
CACD
Central areolar choroidal sclerosis
gene_symbol: GUCA1A
disease_id: ORPHA:75377
disease_name: Central areolar choroidal dystrophy
Areolar atrophy of the macula
CACD
Central areolar choroidal sclerosis
Phenotype: Macular hyperpigmentation (HP:0011509)
Associated genes and diseases:
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: CDH3
disease_id: OMIM:601553
disease_name: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY
gene_symbol: ADAR
disease_id: ORPHA:41
disease_name: Dyschromatosis symmetrica hereditaria
Acropigmentation of Dohi
gene_symbol: CRX
disease_id: OMIM:120970
disease_name: CONE-ROD DYSTROPHY 2
gene_symbol: PAX2
disease_id: OMIM:120330
disease_name: PAPILLORENAL SYNDROME
Phenotype: Erythema migrans (HP:0031180)
Associated genes and diseases:
gene_symbol: KRT5
disease_id: ORPHA:158681
disease_name: Epidermolysis bullosa simplex with circinate migratory erythema
EBS with circinate migratory erythema
EBS-migr
gene_symbol: KRT5
disease_id: OMIM:609352
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA
Phenotype: Necrolytic migratory erythema (HP:0031181)
Associated genes and diseases:
gene_symbol: GCGR
disease_id: ORPHA:438274
disease_name: GCGR-related hyperglucagonemia
Mahvash disease
Phenotype: Increased circulating NT-proBNP concentration (HP:0031185)
Associated genes and diseases:
gene_symbol: TTR
disease_id: ORPHA:85451
disease_name: ATTRV122I amyloidosis
ATTRV122I-related amyloidosis
gene_symbol: GAA
disease_id: OMIM:232300
disease_name: GLYCOGEN STORAGE DISEASE II
gene_symbol: CAPNS1
disease_id: OMIM:620777
disease_name: PULMONARY HYPERTENSION, PRIMARY, 6
gene_symbol: HADHB
disease_id: OMIM:620300
disease_name: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2
gene_symbol: MYZAP
disease_id: OMIM:620894
disease_name: OMIM:620894
gene_symbol: PSMB9
disease_id: OMIM:620796
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6
gene_symbol: LMNA
disease_id: OMIM:151660
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
Phenotype: Abnormal circulating pregnenolone concentration (HP:0031187)
Associated genes and diseases:
gene_symbol: POR
disease_id: ORPHA:95699
disease_name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital adrenal hyperplasia due to cytochrome POR deficiency
POR deficiency
PORD
gene_symbol: HSD3B2
disease_id: OMIM:201810
disease_name: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY
Phenotype: Genital edema (HP:0031188)
Associated genes and diseases:
gene_symbol: PIEZO1
disease_id: OMIM:616843
disease_name: LYMPHATIC MALFORMATION 6
gene_symbol: GJC2
disease_id: ORPHA:568051
disease_name: GJC2-related late-onset primary lymphedema
gene_symbol: IKBKG
disease_id: ORPHA:98813
disease_name: Hypohidrotic ectodermal dysplasia with immunodeficiency
Anhidrotic ectodermal dysplasia with immunodeficiency
EDA-ID
HED-ID
gene_symbol: NFKBIA
disease_id: ORPHA:98813
disease_name: Hypohidrotic ectodermal dysplasia with immunodeficiency
Anhidrotic ectodermal dysplasia with immunodeficiency
EDA-ID
HED-ID
Phenotype: Wrist drop (HP:0031189)
Associated genes and diseases:
gene_symbol: MORC2
disease_id: OMIM:616688
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z
gene_symbol: ACTA1
disease_id: OMIM:616852
disease_name: MYOPATHY, SCAPULOHUMEROPERONEAL
gene_symbol: CADM3
disease_id: OMIM:619519
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF
gene_symbol: NF2
disease_id: ORPHA:637
disease_name: Full NF2-related schwannomatosis
Full NF2
Full neurofibromatosis type 2
Nonmosaic NF2-related schwannomatosis
Nonmosaic neurofibromatosis type 2
gene_symbol: LDB3
disease_id: ORPHA:98912
disease_name: Late-onset distal myopathy, Markesbery-Griggs type
ZASP-related myofibrillar myopathy
gene_symbol: PLOD1
disease_id: ORPHA:1900
disease_name: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
Cutis hyperelastica
EDS VIA
Ehlers-Danlos syndrome type 6A
Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency
Lysyl hydroxylase-deficient EDS
Ocular-scoliotic EDS
kEDS-PLOD1
gene_symbol: REEP1
disease_id: OMIM:620011
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6
Phenotype: Arachnoid granulation (HP:0034454)
Associated genes and diseases:
gene_symbol: ALKBH8
disease_id: OMIM:618504
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
Phenotype: Elevated urinary phenylpyruvic acid level (HP:0034458)
Associated genes and diseases:
gene_symbol: PAH
disease_id: OMIM:261600
disease_name: PHENYLKETONURIA
Phenotype: Hawkinsinuria (HP:0034457)
Associated genes and diseases:
gene_symbol: HPD
disease_id: OMIM:140350
disease_name: HAWKINSINURIA
Phenotype: Hyperpigmentation of the fundus (HP:0011512)
Associated genes and diseases:
gene_symbol: MUTYH
disease_id: ORPHA:247798
disease_name: MUTYH-related attenuated familial adenomatous polyposis
MUTYH-related AFAP
MUTYH-related attenuated FAP
MUTYH-related attenuated familial polyposis coli
gene_symbol: APC
disease_id: ORPHA:220460
disease_name: Attenuated familial adenomatous polyposis
AFAP
Attenuated FAP
Attenuated familial polyposis coli
gene_symbol: APC
disease_id: OMIM:175100
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 1
gene_symbol: APC
disease_id: ORPHA:261584
disease_name: Familial adenomatous polyposis due to 5q22.2 microdeletion
Colorectal adenomatous polyposis due to monosomy 5q22.2
FAP due to monosomy 5q22.2
Familial adenomatous polyposis due to del(5)(q22.2)
Familial adenomatous polyposis due to monosomy 5q22.2
Familial polyposis coli due to monosomy 5q22.2
gene_symbol: CAPN5
disease_id: OMIM:193235
disease_name: VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY
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: EFEMP1
disease_id: OMIM:126600
disease_name: DOYNE HONEYCOMB RETINAL DYSTROPHY
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: POU3F4
disease_id: ORPHA:1435
disease_name: Xq21 microdeletion syndrome
Ayazi syndrome
Del(X)(q21)
Monosomy Xq21
Phenotype: Achromatopsia (HP:0011516)
Associated genes and diseases:
gene_symbol: ATF6
disease_id: OMIM:616517
disease_name: ACHROMATOPSIA 7
gene_symbol: NBAS
disease_id: OMIM:614800
disease_name: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
gene_symbol: CNGA3
disease_id: OMIM:216900
disease_name: ACHROMATOPSIA 2
gene_symbol: CNGB3
disease_id: OMIM:262300
disease_name: ACHROMATOPSIA 3
gene_symbol: GNAT2
disease_id: OMIM:613856
disease_name: ACHROMATOPSIA 4
Phenotype: Cone monochromacy (HP:0011517)
Associated genes and diseases:
gene_symbol: OPN1MW
disease_id: ORPHA:16
disease_name: Blue cone monochromatism
Atypical X-linked achromatopsia
Blue cone monochromacy
Color blindness, blue monocone monochromatic type
S cone monochromacy
S cone monochromatism
X-linked incomplete achromatopsia
gene_symbol: OPN1MW
disease_id: OMIM:303700
disease_name: BLUE CONE MONOCHROMACY
gene_symbol: OPN1LW
disease_id: ORPHA:16
disease_name: Blue cone monochromatism
Atypical X-linked achromatopsia
Blue cone monochromacy
Color blindness, blue monocone monochromatic type
S cone monochromacy
S cone monochromatism
X-linked incomplete achromatopsia
gene_symbol: OPN1LW
disease_id: OMIM:303700
disease_name: BLUE CONE MONOCHROMACY
Phenotype: Dichromacy (HP:0011518)
Associated genes and diseases:
gene_symbol: CACNA1F
disease_id: OMIM:300600
disease_name: ALAND ISLAND EYE DISEASE
Phenotype: Anomalous trichromacy (HP:0011519)
Associated genes and diseases:
gene_symbol: POC1B
disease_id: OMIM:615973
disease_name: CONE-ROD DYSTROPHY 20
gene_symbol: NR2E3
disease_id: OMIM:611131
disease_name: RETINITIS PIGMENTOSA 37
gene_symbol: DNM1L
disease_id: OMIM:610708
disease_name: OPTIC ATROPHY 5
gene_symbol: OPN1SW
disease_id: OMIM:190900
disease_name: TRITANOPIA
gene_symbol: OPN1SW
disease_id: ORPHA:88629
disease_name: Tritanopia
Blue colour blindness
Congenital tritanopia
Tritan colour blindness
gene_symbol: RBP4
disease_id: OMIM:615147
disease_name: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME
gene_symbol: OPA1
disease_id: OMIM:125250
disease_name: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
gene_symbol: OPA1
disease_id: OMIM:165500
disease_name: OPTIC ATROPHY 1
gene_symbol: C1QTNF5
disease_id: ORPHA:67042
disease_name: Late-onset retinal degeneration
Autosomal dominant late-onset retinal degeneration
LORD
gene_symbol: GUCY2D
disease_id: OMIM:618555
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I
gene_symbol: OPA3
disease_id: ORPHA:67036
disease_name: Autosomal dominant optic atrophy and cataract
Autosomal dominant optic atrophy type 3
OPA3, autosomal dominant
gene_symbol: OPN1MW
disease_id: OMIM:303800
disease_name: COLORBLINDNESS, PARTIAL, DEUTAN SERIES
gene_symbol: OPN1LW
disease_id: OMIM:303900
disease_name: COLORBLINDNESS, PARTIAL, PROTAN SERIES
Phenotype: Deep dermal perivascular inflammatory infiltrate (HP:0031191)
Associated genes and diseases:
gene_symbol: NLRP3
disease_id: OMIM:191900
disease_name: MUCKLE-WELLS SYNDROME
Phenotype: Abnormal morphology of left ventricular trabeculae (HP:0031192)
Associated genes and diseases:
gene_symbol: HCN4
disease_id: OMIM:163800
disease_name: SICK SINUS SYNDROME 2
gene_symbol: MIB1
disease_id: OMIM:615092
disease_name: LEFT VENTRICULAR NONCOMPACTION 7
gene_symbol: DTNA
disease_id: OMIM:604169
disease_name: LEFT VENTRICULAR NONCOMPACTION 1
gene_symbol: NONO
disease_id: OMIM:300967
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 34
gene_symbol: PRDM16
disease_id: OMIM:615373
disease_name: LEFT VENTRICULAR NONCOMPACTION 8
gene_symbol: MYBPC3
disease_id: OMIM:615396
disease_name: LEFT VENTRICULAR NONCOMPACTION 10
gene_symbol: SDHD
disease_id: OMIM:619167
disease_name: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3
gene_symbol: CALM2
disease_id: OMIM:616249
disease_name: LONG QT SYNDROME 15
gene_symbol: MIPEP
disease_id: OMIM:617228
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31
gene_symbol: COA6
disease_id: OMIM:616501
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 13
gene_symbol: SCN5A
disease_id: ORPHA:1344
disease_name: Atrial standstill
Atrial cardiomyopathy with heart block
gene_symbol: NPPA
disease_id: ORPHA:1344
disease_name: Atrial standstill
Atrial cardiomyopathy with heart block
gene_symbol: SDHA
disease_id: OMIM:613642
disease_name: CARDIOMYOPATHY, DILATED, 1GG
gene_symbol: SDHA
disease_id: OMIM:252011
disease_name: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: ACTC1
disease_id: OMIM:613424
disease_name: CARDIOMYOPATHY, DILATED, 1R
gene_symbol: ACTN2
disease_id: OMIM:612158
disease_name: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION
gene_symbol: MYH7
disease_id: OMIM:613426
disease_name: CARDIOMYOPATHY, DILATED, 1S
gene_symbol: LDB3
disease_id: OMIM:601493
disease_name: CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION
gene_symbol: TNNT2
disease_id: OMIM:601494
disease_name: CARDIOMYOPATHY, DILATED, 1D
gene_symbol: VARS2
disease_id: OMIM:615917
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
Phenotype: Abnormal morphology of right ventricular trabeculae (HP:0031193)
Associated genes and diseases:
gene_symbol: JUP
disease_id: OMIM:601214
disease_name: NAXOS DISEASE
Phenotype: Superficial dermal perivascular inflammatory infiltrate (HP:0031190)
Associated genes and diseases:
gene_symbol: LDHA
disease_id: ORPHA:284426
disease_name: Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
GSD due to lactate dehydrogenase M-subunit deficiency
Glycogenosis due to lactate dehydrogenase M-subunit deficiency
LDH-M subunit deficiency
Lactate dehydrogenase A deficiency
gene_symbol: RNF31
disease_id: OMIM:620632
disease_name: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION
gene_symbol: SLURP1
disease_id: ORPHA:87503
disease_name: Mal de Meleda
Keratosis palmoplantaris transgrediens of Siemens
Meleda disease
Transgrediens palmoplantar keratoderma of Siemens
gene_symbol: TRPM4
disease_id: OMIM:618531
disease_name: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6
Phenotype: 2-hydroxyadipic aciduria (HP:0034465)
Associated genes and diseases:
gene_symbol: DHTKD1
disease_id: OMIM:204750
disease_name: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
Phenotype: Homocitrullinuria (HP:0034464)
Associated genes and diseases:
gene_symbol: AASS
disease_id: OMIM:238700
disease_name: HYPERLYSINEMIA, TYPE I
gene_symbol: SLC25A15
disease_id: OMIM:238970
disease_name: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME
Phenotype: Elevated stool chloride content (HP:0034470)
Associated genes and diseases:
gene_symbol: SLC9A3
disease_id: OMIM:616868
disease_name: DIARRHEA 8, SECRETORY SODIUM, CONGENITAL
gene_symbol: SLC26A3
disease_id: OMIM:214700
disease_name: DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL
Phenotype: Increased fecal coproporphyrin III:coproporphyrin I ratio (HP:0034471)
Associated genes and diseases:
gene_symbol: CPOX
disease_id: OMIM:121300
disease_name: COPROPORPHYRIA, HEREDITARY
Phenotype: Increased fecal harderoporphyrin (HP:0034472)
Associated genes and diseases:
gene_symbol: CPOX
disease_id: OMIM:618892
disease_name: HARDEROPORPHYRIA
Phenotype: Deuteranomaly (HP:0011520)
Associated genes and diseases:
gene_symbol: OPN1MW
disease_id: OMIM:303800
disease_name: COLORBLINDNESS, PARTIAL, DEUTAN SERIES
Phenotype: Protanopia (HP:0011522)
Associated genes and diseases:
gene_symbol: CACNA1F
disease_id: OMIM:300600
disease_name: ALAND ISLAND EYE DISEASE
Phenotype: Iris cyst (HP:0011523)
Associated genes and diseases:
gene_symbol: HMX1
disease_id: OMIM:612109
disease_name: OCULOAURICULAR SYNDROME
gene_symbol: MTSS2
disease_id: OMIM:620086
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OCULAR ANOMALIES AND DISTINCTIVE FACIAL FEATURES
Phenotype: Iris melanoma (HP:0011524)
Associated genes and diseases:
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
Phenotype: Lentiglobus (HP:0011527)
Associated genes and diseases:
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: OCRL
disease_id: ORPHA:534
disease_name: Oculocerebrorenal syndrome of Lowe
Lowe disease
Lowe oculo-cerebro-renal dystrophy
Lowe oculo-cerebro-renal syndrome
Lowe oculocerebrorenal dystrophy
Lowe syndrome
OCRL
Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency
Phenotype: Retinal hole (HP:0011530)
Associated genes and diseases:
gene_symbol: FZD4
disease_id: OMIM:133780
disease_name: EXUDATIVE VITREORETINOPATHY 1
gene_symbol: LRP5
disease_id: OMIM:133780
disease_name: EXUDATIVE VITREORETINOPATHY 1
gene_symbol: ZNF408
disease_id: OMIM:616468
disease_name: EXUDATIVE VITREORETINOPATHY 6
gene_symbol: BMP4
disease_id: ORPHA:828
disease_name: Stickler syndrome
Hereditary progressive arthroophthalmopathy
gene_symbol: CTNNB1
disease_id: OMIM:617572
disease_name: EXUDATIVE VITREORETINOPATHY 7
gene_symbol: COL2A1
disease_id: OMIM:108300
disease_name: STICKLER SYNDROME, TYPE I
gene_symbol: NDP
disease_id: OMIM:305390
disease_name: EXUDATIVE VITREORETINOPATHY 2, X-LINKED
Phenotype: Vitritis (HP:0011531)
Associated genes and diseases:
gene_symbol: HLA-A
disease_id: ORPHA:179
disease_name: Birdshot chorioretinopathy
Birdshot chorioretinitis
Birdshot retinochoroiditis
Birdshot retinochoroidopathy
Vitiliginous choroiditis
gene_symbol: RB1
disease_id: OMIM:180200
disease_name: RETINOBLASTOMA
gene_symbol: NDUFB11
disease_id: ORPHA:2556
disease_name: Microphthalmia with linear skin defects syndrome
MCOPS7
MIDAS syndrome
MLS syndrome
Microphthalmia-dermal aplasia-sclerocornea syndrome
Syndromic microphthalmia type 7
gene_symbol: COX7B
disease_id: ORPHA:2556
disease_name: Microphthalmia with linear skin defects syndrome
MCOPS7
MIDAS syndrome
MLS syndrome
Microphthalmia-dermal aplasia-sclerocornea syndrome
Syndromic microphthalmia type 7
gene_symbol: HCCS
disease_id: ORPHA:2556
disease_name: Microphthalmia with linear skin defects syndrome
MCOPS7
MIDAS syndrome
MLS syndrome
Microphthalmia-dermal aplasia-sclerocornea syndrome
Syndromic microphthalmia type 7
Phenotype: Subretinal exudate (HP:0011532)
Associated genes and diseases:
gene_symbol: NDP
disease_id: OMIM:305390
disease_name: EXUDATIVE VITREORETINOPATHY 2, X-LINKED
Phenotype: Snowflake vitreoretinal degeneration (HP:0011533)
Associated genes and diseases:
gene_symbol: KCNJ13
disease_id: OMIM:193230
disease_name: VITREORETINAL DEGENERATION, SNOWFLAKE TYPE
Phenotype: Right atrial isomerism (HP:0011536)
Associated genes and diseases:
gene_symbol: ZIC3
disease_id: OMIM:306955
disease_name: HETEROTAXY, VISCERAL, 1, X-LINKED
gene_symbol: NODAL
disease_id: OMIM:270100
disease_name: HETEROTAXY, VISCERAL, 5, AUTOSOMAL
gene_symbol: GDF1
disease_id: OMIM:208530
disease_name: RIGHT ATRIAL ISOMERISM
Phenotype: Left atrial isomerism (HP:0011537)
Associated genes and diseases:
gene_symbol: CFC1
disease_id: OMIM:605376
disease_name: HETEROTAXY, VISCERAL, 2, AUTOSOMAL
Phenotype: Atrial situs inversus (HP:0011538)
Associated genes and diseases:
gene_symbol: PKD1L1
disease_id: OMIM:617205
disease_name: HETEROTAXY, VISCERAL, 8, AUTOSOMAL
gene_symbol: ODAD1
disease_id: OMIM:615067
disease_name: CILIARY DYSKINESIA, PRIMARY, 20
Phenotype: Myocardial necrosis (HP:0001700)
Associated genes and diseases:
gene_symbol: LAMP2
disease_id: OMIM:300257
disease_name: DANON DISEASE
gene_symbol: SRP54
disease_id: OMIM:260400
disease_name: SHWACHMAN-DIAMOND SYNDROME 1
gene_symbol: SBDS
disease_id: OMIM:260400
disease_name: SHWACHMAN-DIAMOND SYNDROME 1
gene_symbol: DNAJC21
disease_id: OMIM:260400
disease_name: SHWACHMAN-DIAMOND SYNDROME 1
Phenotype: Congenitally corrected transposition of the great arteries (HP:0011540)
Associated genes and diseases:
gene_symbol: PKD1L1
disease_id: OMIM:617205
disease_name: HETEROTAXY, VISCERAL, 8, AUTOSOMAL
gene_symbol: CIROP
disease_id: OMIM:619702
disease_name: HETEROTAXY, VISCERAL, 12, AUTOSOMAL
gene_symbol: DNAH9
disease_id: OMIM:618300
disease_name: CILIARY DYSKINESIA, PRIMARY, 40