TaoMedAI/RareMedData huggingface dataset:
Phenotype: Broad lateral eyebrow (HP:0007933)
Associated genes and diseases:
gene_symbol: CASP2
disease_id: OMIM:620653
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY
gene_symbol: SON
disease_id: ORPHA:500150
disease_name: Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
ZTTK syndrome
Zhu-Tokita-Takenouchi-Kim syndrome
gene_symbol: KMT2A
disease_id: OMIM:605130
disease_name: WIEDEMANN-STEINER SYNDROME
Phenotype: Reticular retinal dystrophy (HP:0007913)
Associated genes and diseases:
gene_symbol: PRPH2
disease_id: OMIM:169150
disease_name: MACULAR DYSTROPHY, PATTERNED, 1
Phenotype: Polymorphous posterior corneal dystrophy (HP:0007915)
Associated genes and diseases:
gene_symbol: OVOL2
disease_id: OMIM:122000
disease_name: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1
Phenotype: Vitreous hemorrhage (HP:0007902)
Associated genes and diseases:
gene_symbol: FZD4
disease_id: OMIM:133780
disease_name: EXUDATIVE VITREORETINOPATHY 1
gene_symbol: FZD4
disease_id: ORPHA:891
disease_name: Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR
gene_symbol: FZD4
disease_id: ORPHA:90050
disease_name: Retinopathy of prematurity
ROP
Retrolental fibroplasia
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: NDP
disease_id: ORPHA:891
disease_name: Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR
gene_symbol: NDP
disease_id: ORPHA:90050
disease_name: Retinopathy of prematurity
ROP
Retrolental fibroplasia
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: ESAM
disease_id: OMIM:620371
disease_name: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY
gene_symbol: SMC5
disease_id: OMIM:620185
disease_name: ATELIS SYNDROME 2
Phenotype: Paravenous chorioretinal atrophy (HP:0007903)
Associated genes and diseases:
gene_symbol: CRB1
disease_id: OMIM:172870
disease_name: PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY
Phenotype: Abnormal iris vasculature (HP:0007905)
Associated genes and diseases:
gene_symbol: MYOC
disease_id: OMIM:137750
disease_name: GLAUCOMA 1, OPEN ANGLE, A
gene_symbol: FOXC1
disease_id: OMIM:601631
disease_name: ANTERIOR SEGMENT DYSGENESIS 3
gene_symbol: LOXL1
disease_id: OMIM:177650
disease_name: EXFOLIATION SYNDROME
Phenotype: Hypoplastic lacrimal duct (HP:0007900)
Associated genes and diseases:
gene_symbol: FGFR2
disease_id: OMIM:149730
disease_name: LACRIMOAURICULODENTODIGITAL SYNDROME
gene_symbol: COL3A1
disease_id: ORPHA:286
disease_name: Vascular Ehlers-Danlos syndrome
Arterial-ecchymotic EDS
EDS IV
Ehlers-Danlos syndrome type 4
Sack-Barabas syndrome
Vascular EDS
vEDS
Phenotype: Intraretinal exudate (HP:0007989)
Associated genes and diseases:
gene_symbol: NDP
disease_id: OMIM:305390
disease_name: EXUDATIVE VITREORETINOPATHY 2, X-LINKED
Phenotype: Absent retinal pigment epithelium (HP:0007980)
Associated genes and diseases:
gene_symbol: GGCX
disease_id: ORPHA:436274
disease_name: Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
PXE-like syndrome with retinitis pigmentosa
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: Electronegative electroretinogram (HP:0007984)
Associated genes and diseases:
gene_symbol: LRIT3
disease_id: OMIM:615058
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F
gene_symbol: LRIT3
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: GRK1
disease_id: ORPHA:75382
disease_name: Oguchi disease
Congenital stationary night blindness, Oguchi type
Oguchi syndrome
gene_symbol: GRK1
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: SAG
disease_id: ORPHA:75382
disease_name: Oguchi disease
Congenital stationary night blindness, Oguchi type
Oguchi syndrome
gene_symbol: SAG
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
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: CACNA2D4
disease_id: OMIM:610478
disease_name: RETINAL CONE DYSTROPHY 4
gene_symbol: CACNA2D4
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: ABCA4
disease_id: OMIM:604116
disease_name: CONE-ROD DYSTROPHY 3
gene_symbol: RLBP1
disease_id: ORPHA:85128
disease_name: Bothnia retinal dystrophy
Västerbotten dystrophy
gene_symbol: CABP4
disease_id: OMIM:610427
disease_name: CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE
gene_symbol: CABP4
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: TRPM1
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: CACNA1F
disease_id: ORPHA:215
disease_name: Congenital stationary night blindness
Congenital essential nyctalopia
gene_symbol: CACNA1F
disease_id: OMIM:300071
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
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: 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: Retinal arteriolar occlusion (HP:0007985)
Associated genes and diseases:
gene_symbol: F12
disease_id: ORPHA:330
disease_name: Congenital factor XII deficiency
Congenital Hageman factor deficiency
gene_symbol: BEST1
disease_id: OMIM:193220
disease_name: VITREORETINOCHOROIDOPATHY
Phenotype: Progressive visual field defects (HP:0007987)
Associated genes and diseases:
gene_symbol: PRPF3
disease_id: OMIM:601414
disease_name: RETINITIS PIGMENTOSA 18
gene_symbol: PRPH2
disease_id: ORPHA:52427
disease_name: Retinitis punctata albescens
RPA
gene_symbol: RLBP1
disease_id: ORPHA:52427
disease_name: Retinitis punctata albescens
RPA
gene_symbol: RHO
disease_id: ORPHA:52427
disease_name: Retinitis punctata albescens
RPA
gene_symbol: RDH5
disease_id: ORPHA:52427
disease_name: Retinitis punctata albescens
RPA
gene_symbol: CTNNB1
disease_id: ORPHA:54595
disease_name: Craniopharyngioma
gene_symbol: BRAF
disease_id: ORPHA:54595
disease_name: Craniopharyngioma
Phenotype: Macular hypopigmentation (HP:0007988)
Associated genes and diseases:
gene_symbol: ADAR
disease_id: ORPHA:41
disease_name: Dyschromatosis symmetrica hereditaria
Acropigmentation of Dohi
gene_symbol: IFT74
disease_id: OMIM:617119
disease_name: BARDET-BIEDL SYNDROME 20
gene_symbol: NMNAT1
disease_id: OMIM:608553
disease_name: LEBER CONGENITAL AMAUROSIS 9
gene_symbol: MC1R
disease_id: ORPHA:79432
disease_name: Oculocutaneous albinism type 2
OCA2
gene_symbol: OCA2
disease_id: ORPHA:79432
disease_name: Oculocutaneous albinism type 2
OCA2
Phenotype: Lattice retinal degeneration (HP:0007992)
Associated genes and diseases:
gene_symbol: COL2A1
disease_id: ORPHA:485
disease_name: Kniest dysplasia
gene_symbol: COL2A1
disease_id: OMIM:619248
disease_name: VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA
gene_symbol: BMP4
disease_id: ORPHA:828
disease_name: Stickler syndrome
Hereditary progressive arthroophthalmopathy
gene_symbol: COL9A1
disease_id: ORPHA:250984
disease_name: Autosomal recessive Stickler syndrome
gene_symbol: COL9A2
disease_id: ORPHA:250984
disease_name: Autosomal recessive Stickler syndrome
gene_symbol: COL9A3
disease_id: ORPHA:250984
disease_name: Autosomal recessive Stickler syndrome
gene_symbol: LOXL3
disease_id: ORPHA:250984
disease_name: Autosomal recessive Stickler syndrome
gene_symbol: P3H2
disease_id: OMIM:614292
disease_name: MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION
Phenotype: Malformed lacrimal duct (HP:0007993)
Associated genes and diseases:
gene_symbol: FREM2
disease_id: ORPHA:2052
disease_name: Fraser syndrome
Cryptophthalmos-syndactyly syndrome
gene_symbol: FRAS1
disease_id: ORPHA:2052
disease_name: Fraser syndrome
Cryptophthalmos-syndactyly syndrome
gene_symbol: FRAS1
disease_id: OMIM:219000
disease_name: FRASER SYNDROME 1
gene_symbol: GRIP1
disease_id: ORPHA:2052
disease_name: Fraser syndrome
Cryptophthalmos-syndactyly syndrome
Phenotype: Remnants of the hyaloid vascular system (HP:0007968)
Associated genes and diseases:
gene_symbol: ATOH7
disease_id: OMIM:221900
disease_name: PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE
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: COL11A1
disease_id: OMIM:604841
disease_name: STICKLER SYNDROME, TYPE II
gene_symbol: BCOR
disease_id: OMIM:300166
disease_name: MICROPHTHALMIA, SYNDROMIC 2
gene_symbol: PRR12
disease_id: OMIM:619539
disease_name: NEUROOCULAR SYNDROME 1
gene_symbol: CRPPA
disease_id: OMIM:614643
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
gene_symbol: PAX6
disease_id: OMIM:165550
disease_name: OPTIC NERVE HYPOPLASIA, BILATERAL
gene_symbol: PAX6
disease_id: OMIM:120200
disease_name: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT
gene_symbol: LAMB2
disease_id: ORPHA:2670
disease_name: Pierson syndrome
Microcoria-congenital nephrosis syndrome
gene_symbol: LAMB2
disease_id: OMIM:609049
disease_name: PIERSON SYNDROME
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: 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: NDP
disease_id: ORPHA:649
disease_name: Norrie disease
Atrophia bulborum hereditaria
Episkopi blindness
Norrie-Warburg disease
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: ZSWIM6
disease_id: OMIM:603671
disease_name: ACROMELIC FRONTONASAL DYSOSTOSIS
gene_symbol: SIX3
disease_id: OMIM:157170
disease_name: HOLOPROSENCEPHALY 2
gene_symbol: SMC5
disease_id: OMIM:620185
disease_name: ATELIS SYNDROME 2
Phenotype: Congenital ptosis (HP:0007970)
Associated genes and diseases:
gene_symbol: IGF1
disease_id: ORPHA:73272
disease_name: Growth delay due to insulin-like growth factor type 1 deficiency
Growth delay-deafness-intellectual disability syndrome
Growth delay-hearing loss-intellectual disability syndrome
IGF-1 deficiency
Primary insulin-like growth factor deficiency
gene_symbol: DNA2
disease_id: ORPHA:352470
disease_name: DNA2-related mitochondrial DNA deletion syndrome
Mitochondrial DNA deletion syndrome with limb-girdle weakness
Mitochondrial DNA deletion syndrome with progressive myopathy
mtDNA deletion syndrome with limb-girdle weakness
mtDNA deletion syndrome with progressive myopathy
gene_symbol: BRCC3
disease_id: ORPHA:280679
disease_name: Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism
gene_symbol: TRIO
disease_id: ORPHA:476126
disease_name: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
Phenotype: Lamellar cataract (HP:0007971)
Associated genes and diseases:
gene_symbol: HSF4
disease_id: OMIM:116800
disease_name: CATARACT 5, MULTIPLE TYPES
gene_symbol: CRYBA4
disease_id: OMIM:610425
disease_name: CATARACT 23, MULTIPLE TYPES
gene_symbol: CRYGS
disease_id: OMIM:116100
disease_name: CATARACT 20, MULTIPLE TYPES
gene_symbol: CRYGB
disease_id: OMIM:615188
disease_name: CATARACT 39, MULTIPLE TYPES
gene_symbol: BFSP1
disease_id: OMIM:611391
disease_name: CATARACT 33, MULTIPLE TYPES
gene_symbol: MIP
disease_id: OMIM:615274
disease_name: CATARACT 15, MULTIPLE TYPES
Phenotype: Hypometric horizontal saccades (HP:0007975)
Associated genes and diseases:
gene_symbol: GBA1
disease_id: OMIM:231005
disease_name: GAUCHER DISEASE, TYPE IIIC
Phenotype: Cerulean cataract (HP:0007976)
Associated genes and diseases:
gene_symbol: RTN4IP1
disease_id: OMIM:616732
disease_name: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES
gene_symbol: MAF
disease_id: OMIM:610202
disease_name: CATARACT 21, MULTIPLE TYPES
gene_symbol: CRYBB2
disease_id: OMIM:601547
disease_name: CATARACT 3, MULTIPLE TYPES
gene_symbol: OPA3
disease_id: ORPHA:67036
disease_name: Autosomal dominant optic atrophy and cataract
Autosomal dominant optic atrophy type 3
OPA3, autosomal dominant
Phenotype: Anti-neutrophil elastase antibody positivity (HP:0034104)
Associated genes and diseases:
gene_symbol: CTLA4
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: PTPN22
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: HLA-DPB1
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: PRTN3
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: HLA-DPA1
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
Phenotype: Anti-thyroid-stimulating hormone receptor antibody positivity (HP:0034189)
Associated genes and diseases:
gene_symbol: THRB
disease_id: OMIM:274300
disease_name: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE
gene_symbol: FCGR2C
disease_id: ORPHA:3002
disease_name: Immune thrombocytopenia
ITP
Immune thrombocytopenic purpura
gene_symbol: AIRE
disease_id: OMIM:240300
disease_name: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA
Phenotype: Anti-beta-2-Glycoprotein I IgG antibody positivity (HP:0034156)
Associated genes and diseases:
gene_symbol: POMP
disease_id: OMIM:618048
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2
Phenotype: Paget disease of bone (HP:0034159)
Associated genes and diseases:
gene_symbol: HNRNPA2B1
disease_id: OMIM:615422
disease_name: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2
gene_symbol: VCP
disease_id: OMIM:167320
disease_name: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1
Phenotype: EEG with continuous slow activity (HP:0011204)
Associated genes and diseases:
gene_symbol: CHMP2B
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: CHMP2B
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: PSEN1
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: PSEN1
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: GRN
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: GRN
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: TMEM106B
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: TMEM106B
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: SQSTM1
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: MAPT
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: MAPT
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: TREM2
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: TREM2
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: VCP
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: VCP
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
Phenotype: EEG with changes in voltage (HP:0011201)
Associated genes and diseases:
gene_symbol: PAFAH1B1
disease_id: ORPHA:95232
disease_name: Lissencephaly due to LIS1 mutation
PAFAH1B1-related lissencephaly
Phenotype: Abnormal circulating interleukin 10 concentration (HP:0034162)
Associated genes and diseases:
gene_symbol: FAS
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: FASLG
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: CASP10
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: PSMB9
disease_id: OMIM:620796
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6
gene_symbol: CBLB
disease_id: OMIM:620430
disease_name: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3
gene_symbol: FADD
disease_id: OMIM:613759
disease_name: INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS
gene_symbol: CARD10
disease_id: OMIM:619632
disease_name: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY
Phenotype: Reduced circulating interleukin 10 concentration (HP:0034163)
Associated genes and diseases:
gene_symbol: CARD10
disease_id: OMIM:619632
disease_name: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY
Phenotype: Abnormal circulating interleukin 21 concentration (HP:0034164)
Associated genes and diseases:
gene_symbol: CARD10
disease_id: OMIM:619632
disease_name: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY
Phenotype: Reduced circulating interleukin 21 concentration (HP:0034165)
Associated genes and diseases:
gene_symbol: CARD10
disease_id: OMIM:619632
disease_name: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY
Phenotype: Abnormal circulating interleukin 22 concentration (HP:0034167)
Associated genes and diseases:
gene_symbol: CARD10
disease_id: OMIM:619632
disease_name: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY
Phenotype: Reduced circulating interleukin 22 concentration (HP:0034168)
Associated genes and diseases:
gene_symbol: CARD10
disease_id: OMIM:619632
disease_name: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY
Phenotype: Hemihypsarrhythmia (HP:0011215)
Associated genes and diseases:
gene_symbol: PIK3CA
disease_id: ORPHA:99802
disease_name: Hemimegalencephaly
Unilateral megalencephaly
gene_symbol: MTOR
disease_id: ORPHA:99802
disease_name: Hemimegalencephaly
Unilateral megalencephaly
gene_symbol: AKT3
disease_id: ORPHA:99802
disease_name: Hemimegalencephaly
Unilateral megalencephaly