TaoMedAI/RareMedData huggingface dataset:
Phenotype: Reduced amplitude of dark-adapted bright flash electroretinogram a-wave (HP:0030483)
Associated genes and diseases:
gene_symbol: CFAP418
disease_id: OMIM:617406
disease_name: BARDET-BIEDL SYNDROME 21
gene_symbol: TRPM1
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: CABP4
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: LRIT3
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: CACNA2D4
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: GRM6
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: PDE6B
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: GPR179
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: GRK1
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: CACNA1F
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: RHO
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: SLC24A1
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: SAG
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: GNB3
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: GNAT1
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: NYX
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
Phenotype: Death in middle age (HP:0033764)
Associated genes and diseases:
gene_symbol: MYH6
disease_id: OMIM:613251
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14
gene_symbol: TNNI3
disease_id: OMIM:613286
disease_name: CARDIOMYOPATHY, DILATED, 1FF
Phenotype: Fundic gland polyposis (HP:0033769)
Associated genes and diseases:
gene_symbol: APC
disease_id: OMIM:619182
disease_name: GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH
gene_symbol: AXIN2
disease_id: OMIM:608615
disease_name: OLIGODONTIA-COLORECTAL CANCER SYNDROME
Phenotype: Epidermal nevus (HP:0010816)
Associated genes and diseases:
gene_symbol: BRAF
disease_id: ORPHA:840
disease_name: Syringocystadenoma papilliferum
Fistulous vegetative verrucous hydradenoma
Naevus syringocystadenomatosus papilliferus
Papillary syringocystadenoma
SCAP
Syringadenoma papilliferum
gene_symbol: NRAS
disease_id: OMIM:163200
disease_name: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME
gene_symbol: HRAS
disease_id: OMIM:163200
disease_name: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME
gene_symbol: SMO
disease_id: OMIM:601707
disease_name: CURRY-JONES SYNDROME
gene_symbol: NSDHL
disease_id: OMIM:308050
disease_name: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
gene_symbol: AKT1
disease_id: OMIM:176920
disease_name: PROTEUS SYNDROME
gene_symbol: AKT1
disease_id: ORPHA:744
disease_name: Proteus syndrome
Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
gene_symbol: PIK3CA
disease_id: ORPHA:314662
disease_name: Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
gene_symbol: PIK3CA
disease_id: ORPHA:140944
disease_name: CLOVES syndrome
Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome
Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome
gene_symbol: PIK3CA
disease_id: OMIM:182000
disease_name: KERATOSIS, SEBORRHEIC
gene_symbol: PTEN
disease_id: ORPHA:2969
disease_name: Proteus-like syndrome
gene_symbol: KRAS
disease_id: OMIM:600268
disease_name: OCULOECTODERMAL SYNDROME
gene_symbol: LEMD3
disease_id: OMIM:166700
disease_name: BUSCHKE-OLLENDORFF SYNDROME
gene_symbol: NEK9
disease_id: OMIM:617025
disease_name: NEVUS COMEDONICUS
gene_symbol: XPA
disease_id: OMIM:278700
disease_name: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A
Phenotype: Nevus sebaceous (HP:0010815)
Associated genes and diseases:
gene_symbol: BRAF
disease_id: ORPHA:840
disease_name: Syringocystadenoma papilliferum
Fistulous vegetative verrucous hydradenoma
Naevus syringocystadenomatosus papilliferus
Papillary syringocystadenoma
SCAP
Syringadenoma papilliferum
gene_symbol: NRAS
disease_id: OMIM:163200
disease_name: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME
gene_symbol: KRAS
disease_id: OMIM:163200
disease_name: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME
gene_symbol: HRAS
disease_id: OMIM:163200
disease_name: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME
gene_symbol: SMO
disease_id: OMIM:601707
disease_name: CURRY-JONES SYNDROME
Phenotype: Abnormal position of hair whorl (HP:0010814)
Associated genes and diseases:
gene_symbol: MAN1B1
disease_id: ORPHA:397941
disease_name: MAN1B1-CDG
Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency
Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency
Congenital disorder of glycosylation type II due to MAN1B1 deficiency
Intellectual disability-truncal obesity syndrome
Phenotype: Abnormal number of hair whorls (HP:0010813)
Associated genes and diseases:
gene_symbol: TRAF7
disease_id: OMIM:618164
disease_name: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY
gene_symbol: IRX5
disease_id: OMIM:611174
disease_name: HAMAMY SYNDROME
Phenotype: Linear nevus sebaceous (HP:0010817)
Associated genes and diseases:
gene_symbol: NRAS
disease_id: OMIM:163200
disease_name: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME
gene_symbol: KRAS
disease_id: OMIM:163200
disease_name: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME
gene_symbol: HRAS
disease_id: OMIM:163200
disease_name: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME
gene_symbol: HRAS
disease_id: ORPHA:2874
disease_name: Phakomatosis pigmentokeratotica
Phenotype: Short uvula (HP:0010812)
Associated genes and diseases:
gene_symbol: PRR12
disease_id: OMIM:619539
disease_name: NEUROOCULAR SYNDROME 1
gene_symbol: WDR35
disease_id: OMIM:614091
disease_name: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
gene_symbol: SPTBN1
disease_id: OMIM:619475
disease_name: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
gene_symbol: FBXO11
disease_id: OMIM:618089
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
Phenotype: Narrow uvula (HP:0010811)
Associated genes and diseases:
gene_symbol: EFEMP1
disease_id: OMIM:620780
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID
Phenotype: Long uvula (HP:0010810)
Associated genes and diseases:
gene_symbol: AEBP1
disease_id: ORPHA:536532
disease_name: Classical-like Ehlers-Danlos syndrome type 2
AEBP1-related EDS
AEBP1-related Ehlers-Danlos syndrome
Classical-like EDS type 2
clEDS type 2
gene_symbol: AEBP1
disease_id: OMIM:618000
disease_name: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2
Phenotype: Abnormality of foveal pigmentation (HP:0030493)
Associated genes and diseases:
gene_symbol: SLC38A8
disease_id: OMIM:609218
disease_name: FOVEAL HYPOPLASIA 2
gene_symbol: IMPG1
disease_id: OMIM:153870
disease_name: MACULAR DYSTROPHY, CONCENTRIC ANNULAR
gene_symbol: CTNNA1
disease_id: OMIM:608970
disease_name: MACULAR DYSTROPHY, PATTERNED, 2
gene_symbol: RAB28
disease_id: OMIM:615374
disease_name: CONE-ROD DYSTROPHY 18
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
Phenotype: Choriocapillaris atrophy (HP:0030491)
Associated genes and diseases:
gene_symbol: ACVRL1
disease_id: OMIM:600376
disease_name: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2
gene_symbol: CDH3
disease_id: OMIM:601553
disease_name: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY
gene_symbol: CYP4V2
disease_id: ORPHA:41751
disease_name: Bietti crystalline dystrophy
BCD
Bietti crystalline corneoretinal dystrophy
Bietti crystalline retinopathy
gene_symbol: TIMP3
disease_id: ORPHA:59181
disease_name: Sorsby pseudoinflammatory fundus dystrophy
gene_symbol: CRB1
disease_id: OMIM:613835
disease_name: LEBER CONGENITAL AMAUROSIS 8
gene_symbol: GUCY2D
disease_id: OMIM:215500
disease_name: CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 1
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: PRPH2
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: Exudative vitreoretinopathy (HP:0030490)
Associated genes and diseases:
gene_symbol: LRP5
disease_id: ORPHA:2788
disease_name: Osteoporosis-pseudoglioma syndrome
OPPG
Ocular form of osteogenesis imperfecta
gene_symbol: LRP5
disease_id: OMIM:133780
disease_name: EXUDATIVE VITREORETINOPATHY 1
gene_symbol: LRP5
disease_id: OMIM:601813
disease_name: EXUDATIVE VITREORETINOPATHY 4
gene_symbol: TSPAN12
disease_id: OMIM:613310
disease_name: EXUDATIVE VITREORETINOPATHY 5
gene_symbol: FZD4
disease_id: OMIM:133780
disease_name: EXUDATIVE VITREORETINOPATHY 1
gene_symbol: ZNF408
disease_id: OMIM:616468
disease_name: EXUDATIVE VITREORETINOPATHY 6
gene_symbol: CTNNB1
disease_id: OMIM:617572
disease_name: EXUDATIVE VITREORETINOPATHY 7
gene_symbol: CTNNB1
disease_id: OMIM:615075
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS
gene_symbol: BAP1
disease_id: OMIM:619762
disease_name: KURY-ISIDOR SYNDROME
gene_symbol: SLC26A2
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: XYLT2
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: PLOD3
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: VCAN
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: GZF1
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: COL9A1
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: COL9A2
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: COL9A3
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: COL11A1
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: COL11A2
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: KCNJ13
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: COL2A1
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: LRP2
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: BMP4
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: SLITRK6
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: P3H2
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: LOXL3
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: NDP
disease_id: OMIM:305390
disease_name: EXUDATIVE VITREORETINOPATHY 2, X-LINKED
Phenotype: Macular drusen (HP:0030499)
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: UNC119
disease_id: OMIM:620342
disease_name: CONE-ROD DYSTROPHY 24
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
Phenotype: Macular exudate (HP:0030496)
Associated genes and diseases:
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: 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
Phenotype: Abnormality morphology of the macular vasculature (HP:0030495)
Associated genes and diseases:
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: 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
Phenotype: Gastric adenocarcinoma (HP:0033770)
Associated genes and diseases:
gene_symbol: APC
disease_id: OMIM:619182
disease_name: GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH
gene_symbol: MSH3
disease_id: OMIM:617100
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 4
Phenotype: Supernumerary cusp (HP:0033777)
Associated genes and diseases:
gene_symbol: EP300
disease_id: OMIM:613684
disease_name: RUBINSTEIN-TAYBI SYNDROME 2
gene_symbol: EP300
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: EP300
disease_id: ORPHA:353284
disease_name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
gene_symbol: CREBBP
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: CREBBP
disease_id: ORPHA:353277
disease_name: Rubinstein-Taybi syndrome due to CREBBP mutations
gene_symbol: CREBBP
disease_id: ORPHA:353281
disease_name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
gene_symbol: NEK1
disease_id: ORPHA:2751
disease_name: Orofaciodigital syndrome type 2
Mohr syndrome
OFD2
Oral-facial-digital syndrome type 2
gene_symbol: CHSY1
disease_id: OMIM:605282
disease_name: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME
gene_symbol: CHSY1
disease_id: ORPHA:363417
disease_name: Temtamy preaxial brachydactyly syndrome
gene_symbol: NHS
disease_id: OMIM:302350
disease_name: NANCE-HORAN SYNDROME
Phenotype: Abnormality of the twelfth cranial nerve (HP:0010826)
Associated genes and diseases:
gene_symbol: DKK1
disease_id: ORPHA:268882
disease_name: Arnold-Chiari malformation type I
Arnold-Chiari malformation type 1
Chiari malformation type 1
Chiari malformation type I
Phenotype: Abnormality of the eleventh cranial nerve (HP:0010825)
Associated genes and diseases:
gene_symbol: DKK1
disease_id: ORPHA:268882
disease_name: Arnold-Chiari malformation type I
Arnold-Chiari malformation type 1
Chiari malformation type 1
Chiari malformation type I
Phenotype: Hemifacial spasm (HP:0010828)
Associated genes and diseases:
gene_symbol: BAP1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: NF2
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMARCB1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: PDGFB
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: TRAF7
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMO
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: AKT1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: PIK3CA
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: TERT
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SUFU
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMARCE1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: INPP5E
disease_id: OMIM:213300
disease_name: JOUBERT SYNDROME 1
Phenotype: Ridged cranial sutures (HP:0010823)
Associated genes and diseases:
gene_symbol: BICRA
disease_id: OMIM:619325
disease_name: COFFIN-SIRIS SYNDROME 12
Phenotype: Focal emotional seizure with crying (HP:0010820)
Associated genes and diseases:
gene_symbol: SMO
disease_id: OMIM:241800
disease_name: PALLISTER-HALL-LIKE SYNDROME
Phenotype: Enamel agenesis (HP:0033785)
Associated genes and diseases:
gene_symbol: RAD21
disease_id: OMIM:614701
disease_name: CORNELIA DE LANGE SYNDROME 4 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
gene_symbol: CNNM4
disease_id: OMIM:217080
disease_name: JALILI SYNDROME
Phenotype: Hypomature enamel (HP:0033786)
Associated genes and diseases:
gene_symbol: CLDN16
disease_id: OMIM:248250
disease_name: HYPOMAGNESEMIA 3, RENAL
gene_symbol: MMP20
disease_id: OMIM:612529
disease_name: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2
Phenotype: Decreased circulating ceruloplasmin concentration (HP:0010837)
Associated genes and diseases:
gene_symbol: COG2
disease_id: ORPHA:435934
disease_name: COG2-CDG
COG2-related congenital disorder of glycosylation
gene_symbol: COG2
disease_id: OMIM:617395
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq
gene_symbol: AP1B1
disease_id: ORPHA:171851
disease_name: MEDNIK syndrome
Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome
Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome
gene_symbol: AP1B1
disease_id: OMIM:242150
disease_name: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE
gene_symbol: AP1S1
disease_id: ORPHA:171851
disease_name: MEDNIK syndrome
Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome
Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome
gene_symbol: SLC33A1
disease_id: OMIM:614482
disease_name: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION
gene_symbol: CP
disease_id: ORPHA:48818
disease_name: Aceruloplasminemia
Hereditary ceruloplasmin deficiency
gene_symbol: ATP7B
disease_id: ORPHA:905
disease_name: Wilson disease
Hepatolenticular degeneration
gene_symbol: ATP7B
disease_id: OMIM:277900
disease_name: WILSON DISEASE
gene_symbol: ATP7A
disease_id: OMIM:309400
disease_name: MENKES DISEASE
gene_symbol: ATP7A
disease_id: OMIM:304150
disease_name: OCCIPITAL HORN SYNDROME
gene_symbol: VMA12
disease_id: OMIM:616829
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp
gene_symbol: VMA22
disease_id: OMIM:616828
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo
Phenotype: High nonceruloplasmin-bound serum copper (HP:0010838)
Associated genes and diseases:
gene_symbol: AFG2A
disease_id: ORPHA:457351
disease_name: Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome
gene_symbol: ATP6V0A2
disease_id: ORPHA:2834
disease_name: Wrinkly skin syndrome
WSS
Wrinkled skin syndrome
gene_symbol: ATP7B
disease_id: OMIM:277900
disease_name: WILSON DISEASE
Phenotype: Abnormal circulating copper concentration (HP:0010836)
Associated genes and diseases:
gene_symbol: SLC31A1
disease_id: OMIM:620306
disease_name: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT
gene_symbol: SCO2
disease_id: ORPHA:521411
disease_name: Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
Autosomal recessive axonal CMT due to copper metabolism defect
gene_symbol: FTH1
disease_id: OMIM:615517
disease_name: HEMOCHROMATOSIS, TYPE 5
gene_symbol: AFG2A
disease_id: ORPHA:457351
disease_name: Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome
gene_symbol: ATP6V0A2
disease_id: ORPHA:2834
disease_name: Wrinkly skin syndrome
WSS
Wrinkled skin syndrome
gene_symbol: ATP7B
disease_id: OMIM:277900
disease_name: WILSON DISEASE
gene_symbol: CP
disease_id: ORPHA:48818
disease_name: Aceruloplasminemia
Hereditary ceruloplasmin deficiency
gene_symbol: COG2
disease_id: ORPHA:435934
disease_name: COG2-CDG
COG2-related congenital disorder of glycosylation
gene_symbol: COG2
disease_id: OMIM:617395
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq
gene_symbol: VMA12
disease_id: OMIM:616829
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp
gene_symbol: ATP7A
disease_id: OMIM:304150
disease_name: OCCIPITAL HORN SYNDROME
gene_symbol: AP1B1
disease_id: ORPHA:171851
disease_name: MEDNIK syndrome
Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome
Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome
gene_symbol: AP1B1
disease_id: OMIM:242150
disease_name: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE
gene_symbol: AP1S1
disease_id: ORPHA:171851
disease_name: MEDNIK syndrome
Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome
Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome
gene_symbol: ATP6AP1
disease_id: OMIM:300972
disease_name: IMMUNODEFICIENCY 47
gene_symbol: SLC33A1
disease_id: OMIM:614482
disease_name: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION
Phenotype: Dissociated sensory loss (HP:0010835)
Associated genes and diseases:
gene_symbol: CACNA1A
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: PRRT2
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: SCN1A
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: ATP1A2
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
Phenotype: Increased urinary copper concentration (HP:0010839)
Associated genes and diseases:
gene_symbol: ATP7B
disease_id: OMIM:277900
disease_name: WILSON DISEASE
Phenotype: Trophic changes related to pain (HP:0010834)
Associated genes and diseases:
gene_symbol: NTRK1
disease_id: ORPHA:642
disease_name: Hereditary sensory and autonomic neuropathy type 4
CIPA
Congenital insensitivity to pain with anhidrosis
HSAN4
Hereditary sensory and autonomic neuropathy type IV
gene_symbol: SPTLC1
disease_id: ORPHA:36386
disease_name: Hereditary sensory and autonomic neuropathy type 1
HSAN1
Hereditary sensory and autonomic neuropathy type I
gene_symbol: ATL3
disease_id: ORPHA:36386
disease_name: Hereditary sensory and autonomic neuropathy type 1
HSAN1
Hereditary sensory and autonomic neuropathy type I
gene_symbol: SPTLC2
disease_id: ORPHA:36386
disease_name: Hereditary sensory and autonomic neuropathy type 1
HSAN1
Hereditary sensory and autonomic neuropathy type I
gene_symbol: ATL1
disease_id: ORPHA:36386
disease_name: Hereditary sensory and autonomic neuropathy type 1
HSAN1
Hereditary sensory and autonomic neuropathy type I