TaoMedAI/RareMedData huggingface dataset:
Phenotype: Increased axial length of the globe (HP:0007800)
Associated genes and diseases:
gene_symbol: CPSF1
disease_id: OMIM:618827
disease_name: MYOPIA 27
gene_symbol: WDR26
disease_id: ORPHA:513456
disease_name: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
Skraban-Deardorff syndrome
gene_symbol: CBS
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FBN1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: MFAP5
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: IPO8
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: THSD4
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFB2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: AEBP1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FKBP14
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFBR1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: COL3A1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SKI
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: PLOD1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: NPR3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SMAD3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: PMEPA1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EFEMP1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EFEMP2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: LTBP3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: ASPH
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FBN2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: LOX
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SLC2A10
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFB3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFBR2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: BGN
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: NPR2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: ABL1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SMAD2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SCO2
disease_id: OMIM:608908
disease_name: MYOPIA 6
gene_symbol: LRPAP1
disease_id: OMIM:615431
disease_name: MYOPIA 23, AUTOSOMAL RECESSIVE
Phenotype: Widening of cervical spinal canal (HP:0004571)
Associated genes and diseases:
gene_symbol: GLE1
disease_id: OMIM:253310
disease_name: LETHAL CONGENITAL CONTRACTURE SYNDROME 1
Phenotype: Anterior wedging of T11 (HP:0004573)
Associated genes and diseases:
gene_symbol: FZD2
disease_id: OMIM:164745
disease_name: OMODYSPLASIA 2
gene_symbol: BGN
disease_id: OMIM:300106
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED
Phenotype: Sclerotic vertebral endplates (HP:0004576)
Associated genes and diseases:
gene_symbol: SOST
disease_id: OMIM:269500
disease_name: SCLEROSTEOSIS 1
gene_symbol: DMP1
disease_id: ORPHA:289176
disease_name: Autosomal recessive hypophosphatemic rickets
ARHR
gene_symbol: ENPP1
disease_id: ORPHA:289176
disease_name: Autosomal recessive hypophosphatemic rickets
ARHR
gene_symbol: CLCN7
disease_id: OMIM:611490
disease_name: OSTEOPETROSIS,  AUTOSOMAL RECESSIVE 4
gene_symbol: CCN6
disease_id: OMIM:208230
disease_name: PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA
gene_symbol: LRRK1
disease_id: OMIM:615198
disease_name: OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA
Phenotype: Retinal nonattachment (HP:0007899)
Associated genes and diseases:
gene_symbol: ATOH7
disease_id: OMIM:221900
disease_name: PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE
gene_symbol: PRPH2
disease_id: ORPHA:99000
disease_name: Adult-onset foveomacular vitelliform dystrophy
AOFMD
AVMD
Adult-onset foveomacular dystrophy
Adult-onset foveomacular dystrophy with choroidal neovascularization
Adult-onset vitelliform macular dystrophy
Gass disease
Pseudo-Best disease
Pseudo-vitelliform macular dystrophy
gene_symbol: BEST1
disease_id: ORPHA:99000
disease_name: Adult-onset foveomacular vitelliform dystrophy
AOFMD
AVMD
Adult-onset foveomacular dystrophy
Adult-onset foveomacular dystrophy with choroidal neovascularization
Adult-onset vitelliform macular dystrophy
Gass disease
Pseudo-Best disease
Pseudo-vitelliform macular dystrophy
gene_symbol: IMPG2
disease_id: ORPHA:99000
disease_name: Adult-onset foveomacular vitelliform dystrophy
AOFMD
AVMD
Adult-onset foveomacular dystrophy
Adult-onset foveomacular dystrophy with choroidal neovascularization
Adult-onset vitelliform macular dystrophy
Gass disease
Pseudo-Best disease
Pseudo-vitelliform macular dystrophy
gene_symbol: IMPG1
disease_id: ORPHA:99000
disease_name: Adult-onset foveomacular vitelliform dystrophy
AOFMD
AVMD
Adult-onset foveomacular dystrophy
Adult-onset foveomacular dystrophy with choroidal neovascularization
Adult-onset vitelliform macular dystrophy
Gass disease
Pseudo-Best disease
Pseudo-vitelliform macular dystrophy
gene_symbol: AKT1
disease_id: ORPHA:744
disease_name: Proteus syndrome
Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
Phenotype: Retinal vascular proliferation (HP:0007850)
Associated genes and diseases:
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: NF1
disease_id: ORPHA:97685
disease_name: 17q11 microdeletion syndrome
Del(17)(q11)
Monosomy 17q11
NF1 microdeletion syndrome
Neurofibromatosis type 1 microdeletion syndrome
Phenotype: Glaucomatous visual field defect (HP:0007854)
Associated genes and diseases:
gene_symbol: EFEMP1
disease_id: ORPHA:98977
disease_name: Juvenile glaucoma
gene_symbol: CYP1B1
disease_id: ORPHA:98977
disease_name: Juvenile glaucoma
gene_symbol: MYOC
disease_id: ORPHA:98977
disease_name: Juvenile glaucoma
gene_symbol: ASB10
disease_id: OMIM:603383
disease_name: GLAUCOMA 1, OPEN ANGLE, F
Phenotype: Irregularity of vertebral bodies (HP:0004582)
Associated genes and diseases:
gene_symbol: CCN6
disease_id: ORPHA:1159
disease_name: Progressive pseudorheumatoid dysplasia
PPD
Progressive pseudorheumatoid arthropathy of childhood
Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome
gene_symbol: COG4
disease_id: ORPHA:85172
disease_name: Microcephalic osteodysplastic dysplasia, Saul-Wilson type
gene_symbol: COG1
disease_id: ORPHA:263508
disease_name: COG1-CDG
CDG syndrome type IIg
CDG-IIg
CDG2G
Carbohydrate deficient glycoprotein syndrome type IIg
Congenital disorder of glycosylation type 2g
Congenital disorder of glycosylation type IIg
Phenotype: Congenital horizontal nystagmus (HP:0007859)
Associated genes and diseases:
gene_symbol: GRIK2
disease_id: OMIM:619580
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES
gene_symbol: ITPR1
disease_id: OMIM:117360
disease_name: SPINOCEREBELLAR ATAXIA 29
Phenotype: Retinal infarction (HP:0007866)
Associated genes and diseases:
gene_symbol: ACTA2
disease_id: OMIM:613834
disease_name: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
Phenotype: Hypoplastic sacrum (HP:0004590)
Associated genes and diseases:
gene_symbol: ROR2
disease_id: OMIM:268310
disease_name: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1
gene_symbol: ROR2
disease_id: OMIM:113000
disease_name: BRACHYDACTYLY, TYPE B1
gene_symbol: TRIP11
disease_id: OMIM:200600
disease_name: ACHONDROGENESIS, TYPE IA
gene_symbol: POC1A
disease_id: OMIM:614813
disease_name: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS
gene_symbol: FANCL
disease_id: OMIM:614083
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP L
gene_symbol: TP63
disease_id: OMIM:604292
disease_name: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
gene_symbol: RPS19
disease_id: OMIM:105650
disease_name: DIAMOND-BLACKFAN ANEMIA 1
Phenotype: Disc-like vertebral bodies (HP:0004591)
Associated genes and diseases:
gene_symbol: COL2A1
disease_id: OMIM:151210
disease_name: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE
Phenotype: Thoracic platyspondyly (HP:0004592)
Associated genes and diseases:
gene_symbol: RSPRY1
disease_id: ORPHA:457395
disease_name: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
gene_symbol: MAX
disease_id: OMIM:620712
disease_name: POLYDACTYLY-MACROCEPHALY SYNDROME
gene_symbol: PRKG2
disease_id: OMIM:619636
disease_name: ACROMESOMELIC DYSPLASIA 4
gene_symbol: LBR
disease_id: OMIM:618019
disease_name: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
gene_symbol: PLCB3
disease_id: OMIM:618961
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY
gene_symbol: FLNB
disease_id: OMIM:108720
disease_name: ATELOSTEOGENESIS, TYPE I
Phenotype: Hump-shaped mound of bone in central and posterior portions of vertebral endplate (HP:0004594)
Associated genes and diseases:
gene_symbol: TRAPPC2
disease_id: ORPHA:93284
disease_name: Spondyloepiphyseal dysplasia tarda
gene_symbol: TRAPPC2
disease_id: OMIM:313400
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED
Phenotype: Supernumerary vertebral ossification centers (HP:0004598)
Associated genes and diseases:
gene_symbol: LBR
disease_id: OMIM:215140
disease_name: GREENBERG DYSPLASIA
gene_symbol: LFNG
disease_id: OMIM:609813
disease_name: SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE
Phenotype: Absent or minimally ossified vertebral bodies (HP:0004599)
Associated genes and diseases:
gene_symbol: LBR
disease_id: OMIM:215140
disease_name: GREENBERG DYSPLASIA
gene_symbol: BMPER
disease_id: ORPHA:66637
disease_name: Diaphanospondylodysostosis
DSD
gene_symbol: DYNC2I1
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: IFT80
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: WDR35
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: DYNC2H1
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: DYNC2I2
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: SLC26A2
disease_id: OMIM:600972
disease_name: ACHONDROGENESIS, TYPE IB
gene_symbol: FLNB
disease_id: ORPHA:1190
disease_name: Atelosteogenesis type I
AO1
AOI
Atelosteogenesis type 1
Giant cell chondrodysplasia
Spondylo-humero-femoral dysplasia
gene_symbol: COL2A1
disease_id: OMIM:200610
disease_name: ACHONDROGENESIS, TYPE II
gene_symbol: COL2A1
disease_id: ORPHA:93296
disease_name: Achondrogenesis type 2
Achondrogenesis, Langer-Saldino type
gene_symbol: TRIP11
disease_id: OMIM:200600
disease_name: ACHONDROGENESIS, TYPE IA
gene_symbol: ALPL
disease_id: OMIM:241500
disease_name: HYPOPHOSPHATASIA, INFANTILE
gene_symbol: SOX9
disease_id: ORPHA:140
disease_name: Campomelic dysplasia
Campomelic dwarfism
gene_symbol: SOX9
disease_id: OMIM:114290
disease_name: CAMPOMELIC DYSPLASIA
gene_symbol: VPS35L
disease_id: OMIM:619135
disease_name: RITSCHER-SCHINZEL SYNDROME 3
Phenotype: Choroidal hemangioma (HP:0007872)
Associated genes and diseases:
gene_symbol: GNAQ
disease_id: OMIM:185300
disease_name: STURGE-WEBER SYNDROME
gene_symbol: GNAQ
disease_id: ORPHA:3205
disease_name: Sturge-Weber syndrome
Encephalofacial angiomatosis
Encephalotrigeminal angiomatosis
SWS
Sturge-Weber-Dimitri syndrome
Sturge-Weber-Krabbe angiomatosis
Sturge-Weber-Krabbe syndrome
gene_symbol: PDCD10
disease_id: ORPHA:221061
disease_name: Familial cerebral cavernous malformation
Familial brain cavernous angioma
Familial cerebral cavernoma
Hereditary brain cavernous angioma
Hereditary cerebral cavernoma
Hereditary cerebral cavernous malformation
gene_symbol: PIK3CA
disease_id: ORPHA:221061
disease_name: Familial cerebral cavernous malformation
Familial brain cavernous angioma
Familial cerebral cavernoma
Hereditary brain cavernous angioma
Hereditary cerebral cavernoma
Hereditary cerebral cavernous malformation
gene_symbol: CCM2
disease_id: ORPHA:221061
disease_name: Familial cerebral cavernous malformation
Familial brain cavernous angioma
Familial cerebral cavernoma
Hereditary brain cavernous angioma
Hereditary cerebral cavernoma
Hereditary cerebral cavernous malformation
gene_symbol: KRIT1
disease_id: ORPHA:221061
disease_name: Familial cerebral cavernous malformation
Familial brain cavernous angioma
Familial cerebral cavernoma
Hereditary brain cavernous angioma
Hereditary cerebral cavernoma
Hereditary cerebral cavernous malformation
Phenotype: Abnormally prominent line of Schwalbe (HP:0007873)
Associated genes and diseases:
gene_symbol: PITX2
disease_id: OMIM:180500
disease_name: AXENFELD-RIEGER SYNDROME, TYPE 1
Phenotype: Marginal corneal dystrophy (HP:0007880)
Associated genes and diseases:
gene_symbol: CYP4V2
disease_id: OMIM:210370
disease_name: BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
Phenotype: Central corneal dystrophy (HP:0007881)
Associated genes and diseases:
gene_symbol: TGFBI
disease_id: ORPHA:98960
disease_name: Thiel-Behnke corneal dystrophy
Anterior limiting membrane dystrophy type 2
Anterior limiting membrane dystrophy type II
Corneal dystrophy of Bowman layer type 2
Corneal dystrophy of Bowman layer type II
Curly fiber corneal dystrophy
Honeycomb corneal dystrophy
TBCD
Waardenburg-Jonker corneal dystrophy
gene_symbol: TGFBI
disease_id: ORPHA:98962
disease_name: Granular corneal dystrophy type I
Classic GCD
Classic granular corneal dystrophy
Corneal dystrophy Groenouw type I
GCD1
GCDI
Granular corneal dystrophy type 1
Phenotype: Slowed horizontal saccades (HP:0007885)
Associated genes and diseases:
gene_symbol: GBA1
disease_id: OMIM:231005
disease_name: GAUCHER DISEASE, TYPE IIIC
gene_symbol: GBA1
disease_id: ORPHA:77261
disease_name: Gaucher disease type 3
Cerebral juvenile and adult form of Gaucher disease
Chronic neuronopathic Gaucher disease
Gaucher disease, subacute neuronopathic type
gene_symbol: ITPR1
disease_id: OMIM:117360
disease_name: SPINOCEREBELLAR ATAXIA 29
gene_symbol: MAPT
disease_id: ORPHA:240103
disease_name: Progressive supranuclear palsy-corticobasal syndrome
PSP-CBS
PSP-corticobasal syndrome
Phenotype: Iridescent posterior subcapsular cataract (HP:0007889)
Associated genes and diseases:
gene_symbol: CNBP
disease_id: OMIM:602668
disease_name: MYOTONIC DYSTROPHY 2
Phenotype: Hypoplasia of the lacrimal punctum (HP:0007892)
Associated genes and diseases:
gene_symbol: PPP2R3C
disease_id: OMIM:618419
disease_name: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY
gene_symbol: FGFR2
disease_id: OMIM:149730
disease_name: LACRIMOAURICULODENTODIGITAL SYNDROME
gene_symbol: FGFR2
disease_id: ORPHA:2363
disease_name: Lacrimoauriculodentodigital syndrome
LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
gene_symbol: FGFR3
disease_id: ORPHA:2363
disease_name: Lacrimoauriculodentodigital syndrome
LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
gene_symbol: FGF10
disease_id: ORPHA:2363
disease_name: Lacrimoauriculodentodigital syndrome
LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
Phenotype: Broad medial eyebrow (HP:0034003)
Associated genes and diseases:
gene_symbol: DDB1
disease_id: OMIM:619426
disease_name: WHITE-KERNOHAN SYNDROME
Phenotype: Parosmia (HP:0034004)
Associated genes and diseases:
gene_symbol: TRANK1
disease_id: ORPHA:33543
disease_name: Kleine-Levin syndrome
Phenotype: Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio (HP:0034006)
Associated genes and diseases:
gene_symbol: PLOD1
disease_id: OMIM:225400
disease_name: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1
Phenotype: Posterior atrophy of corpus callosum (HP:0034007)
Associated genes and diseases:
gene_symbol: ATG7
disease_id: OMIM:619422
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31
Phenotype: Opto-chiasmatic atrophy (HP:0034008)
Associated genes and diseases:
gene_symbol: LETM1
disease_id: OMIM:620089
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION
gene_symbol: UCHL1
disease_id: OMIM:615491
disease_name: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
Phenotype: Increased megakaryocyte colony forming unit count (HP:0034010)
Associated genes and diseases:
gene_symbol: ANKRD26
disease_id: OMIM:188000
disease_name: THROMBOCYTOPENIA 2
Phenotype: Reduced progressive sperm motility (HP:0034011)
Associated genes and diseases:
gene_symbol: SPACA1
disease_id: OMIM:620490
disease_name: SPERMATOGENIC FAILURE 85
gene_symbol: USP26
disease_id: OMIM:301101
disease_name: SPERMATOGENIC FAILURE, X-LINKED, 6
gene_symbol: SSX1
disease_id: OMIM:301099
disease_name: SPERMATOGENIC FAILURE, X-LINKED, 5
gene_symbol: CYLC1
disease_id: OMIM:301119
disease_name: SPERMATOGENIC FAILURE, X-LINKED, 8
gene_symbol: FBXO43
disease_id: OMIM:619696
disease_name: SPERMATOGENIC FAILURE 64
gene_symbol: CFAP61
disease_id: OMIM:620409
disease_name: SPERMATOGENIC FAILURE 84
gene_symbol: CCIN
disease_id: OMIM:620838
disease_name: SPERMATOGENIC FAILURE 91
gene_symbol: STK33
disease_id: OMIM:620849
disease_name: OMIM:620849
gene_symbol: IFT74
disease_id: OMIM:619585
disease_name: SPERMATOGENIC FAILURE 58
gene_symbol: LRRC23
disease_id: OMIM:620848
disease_name: SPERMATOGENIC FAILURE 92
gene_symbol: BRWD1
disease_id: OMIM:620438
disease_name: CILIARY DYSKINESIA, PRIMARY, 51
gene_symbol: CFAP45
disease_id: OMIM:619608
disease_name: HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY
gene_symbol: RPL10L
disease_id: OMIM:619689
disease_name: SPERMATOGENIC FAILURE 63
gene_symbol: ARMC12
disease_id: OMIM:620744
disease_name: SPERMATOGENIC FAILURE 90
gene_symbol: DNHD1
disease_id: OMIM:619712
disease_name: SPERMATOGENIC FAILURE 65
gene_symbol: DNAH10
disease_id: OMIM:619515
disease_name: SPERMATOGENIC FAILURE 56
gene_symbol: WDR19
disease_id: OMIM:619867
disease_name: SPERMATOGENIC FAILURE 72
gene_symbol: CCDC146
disease_id: OMIM:620850
disease_name: OMIM:620850
gene_symbol: DNAH7
disease_id: OMIM:620356
disease_name: CILIARY DYSKINESIA, PRIMARY, 50
gene_symbol: AKAP3
disease_id: OMIM:620353
disease_name: SPERMATOGENIC FAILURE 82
gene_symbol: DRC1
disease_id: OMIM:620222
disease_name: SPERMATOGENIC FAILURE 80
gene_symbol: DNALI1
disease_id: OMIM:620354
disease_name: SPERMATOGENIC FAILURE 83
gene_symbol: TEKT3
disease_id: OMIM:620277
disease_name: SPERMATOGENIC FAILURE 81
Phenotype: Palmoplantar hypohidrosis (HP:0034012)
Associated genes and diseases:
gene_symbol: SMARCAD1
disease_id: OMIM:129200
disease_name: BASAN SYNDROME
Phenotype: Tubulonodular pericallosal lipoma (HP:0034014)
Associated genes and diseases:
gene_symbol: ZSWIM6
disease_id: OMIM:603671
disease_name: ACROMELIC FRONTONASAL DYSOSTOSIS
Phenotype: Anti-HLA antibody positivity (HP:0034016)
Associated genes and diseases:
gene_symbol: GNE
disease_id: OMIM:620757
disease_name: THROMBOCYTOPENIA 12 WITH OR WITHOUT MYOPATHY
Phenotype: Abnormal circulating GABA concentration (HP:0034025)
Associated genes and diseases:
gene_symbol: ABAT
disease_id: ORPHA:2066
disease_name: Gamma-aminobutyric acid transaminase deficiency
GABA transaminase deficiency
gene_symbol: USP53
disease_id: OMIM:619658
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS
gene_symbol: ALDH5A1
disease_id: OMIM:271980
disease_name: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
gene_symbol: MPO
disease_id: OMIM:104300
disease_name: ALZHEIMER DISEASE
gene_symbol: NOS3
disease_id: OMIM:104300
disease_name: ALZHEIMER DISEASE
gene_symbol: PLAU
disease_id: OMIM:104300
disease_name: ALZHEIMER DISEASE
gene_symbol: APP
disease_id: OMIM:104300
disease_name: ALZHEIMER DISEASE
Phenotype: Abnormal urinary non-proteinogenic amino acid level (HP:0034027)
Associated genes and diseases:
gene_symbol: KYNU
disease_id: OMIM:236800
disease_name: HYDROXYKYNURENINURIA
gene_symbol: HPD
disease_id: OMIM:140350
disease_name: HAWKINSINURIA
Phenotype: Hepatic foam cells (HP:0034029)
Associated genes and diseases:
gene_symbol: LIPA
disease_id: OMIM:278000
disease_name: LYSOSOMAL ACID LIPASE DEFICIENCY
Phenotype: Facial cyanosis (HP:0034031)
Associated genes and diseases:
gene_symbol: KCNQ2
disease_id: ORPHA:1949
disease_name: Self-limited neonatal epilepsy
BFNS
Benign familial neonatal convulsions
Benign familial neonatal epilepsy
Benign familial neonatal seizures
SeLNE
gene_symbol: KCNQ3
disease_id: ORPHA:1949
disease_name: Self-limited neonatal epilepsy
BFNS
Benign familial neonatal convulsions
Benign familial neonatal epilepsy
Benign familial neonatal seizures
SeLNE
Phenotype: Central cyanosis (HP:0034032)
Associated genes and diseases:
gene_symbol: ADAMTS19
disease_id: OMIM:620067
disease_name: CARDIAC VALVULAR DYSPLASIA 2
Phenotype: Ventricular couplet (HP:0034039)
Associated genes and diseases:
gene_symbol: CASQ2
disease_id: OMIM:604772
disease_name: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
gene_symbol: TRDN
disease_id: OMIM:604772
disease_name: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
gene_symbol: RYR2
disease_id: OMIM:604772
disease_name: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
Phenotype: Bidirectional ventricular tachycardia (HP:0034040)
Associated genes and diseases:
gene_symbol: CASQ2
disease_id: OMIM:604772
disease_name: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
gene_symbol: TRDN
disease_id: OMIM:604772
disease_name: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
gene_symbol: RYR2
disease_id: OMIM:604772
disease_name: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
gene_symbol: TECRL
disease_id: OMIM:614021
disease_name: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3
Phenotype: Dorsal hirsutism (HP:0034042)
Associated genes and diseases:
gene_symbol: RPL10
disease_id: OMIM:300998
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35
gene_symbol: WASHC4
disease_id: OMIM:615817
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43
Phenotype: Increased fecal bile acid (HP:0034043)
Associated genes and diseases:
gene_symbol: SLC10A2
disease_id: OMIM:613291
disease_name: BILE ACID MALABSORPTION, PRIMARY
Phenotype: Trident pelvis (HP:0034044)
Associated genes and diseases:
gene_symbol: TCTN3
disease_id: OMIM:614815
disease_name: JOUBERT SYNDROME 18
gene_symbol: KIAA0753
disease_id: OMIM:619479
disease_name: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY
Phenotype: Angulated muscle fibers (HP:0034045)
Associated genes and diseases:
gene_symbol: TPM2
disease_id: OMIM:609285
disease_name: NEMALINE MYOPATHY 4
gene_symbol: ANXA11
disease_id: OMIM:619733
disease_name: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES
gene_symbol: SMN1
disease_id: OMIM:271150
disease_name: SPINAL MUSCULAR ATROPHY, TYPE IV
gene_symbol: TRIP4
disease_id: OMIM:617066
disease_name: MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE
gene_symbol: LRIF1
disease_id: OMIM:619477
disease_name: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC
gene_symbol: PABPN1
disease_id: ORPHA:270
disease_name: Oculopharyngeal muscular dystrophy
OPMD
gene_symbol: SPTLC1
disease_id: OMIM:620285
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE
gene_symbol: GDAP1
disease_id: OMIM:608340
disease_name: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A
Phenotype: Mandibular osteolysis (HP:0034046)
Associated genes and diseases:
gene_symbol: BANF1
disease_id: OMIM:614008
disease_name: NESTOR-GUILLERMO PROGERIA SYNDROME