TaoMedAI/RareMedData huggingface dataset:
Phenotype: Spontaneous pain sensation (HP:0010833)
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
gene_symbol: PMP22
disease_id: ORPHA:101081
disease_name: Charcot-Marie-Tooth disease type 1A
CMT1A
Microduplication 17p12
Phenotype: Thistle tube shaped pulp (HP:0033790)
Associated genes and diseases:
gene_symbol: DSPP
disease_id: OMIM:125420
disease_name: DENTIN DYSPLASIA, TYPE II
Phenotype: Acral overgrowth (HP:0033794)
Associated genes and diseases:
gene_symbol: PRKAR1A
disease_id: OMIM:160980
disease_name: CARNEY COMPLEX, TYPE 1
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: CAVIN1
disease_id: OMIM:613327
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4
gene_symbol: PLAAT3
disease_id: OMIM:620683
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9
gene_symbol: GNAS
disease_id: OMIM:617686
disease_name: PITUITARY ADENOMA 3, MULTIPLE TYPES
gene_symbol: GNAS
disease_id: OMIM:174800
disease_name: MCCUNE-ALBRIGHT SYNDROME
gene_symbol: GPR101
disease_id: ORPHA:963
disease_name: Acromegaly
gene_symbol: GPR101
disease_id: OMIM:300942
disease_name: CHROMOSOME Xq26.3 DUPLICATION SYNDROME
gene_symbol: AIP
disease_id: ORPHA:963
disease_name: Acromegaly
gene_symbol: AIP
disease_id: OMIM:102200
disease_name: PITUITARY ADENOMA 1, MULTIPLE TYPES
Phenotype: EEG with spike-wave complexes (2.5-3.5 Hz) (HP:0010848)
Associated genes and diseases:
gene_symbol: GABRB3
disease_id: ORPHA:64280
disease_name: Childhood absence epilepsy
Pyknolepsy
gene_symbol: GABRA1
disease_id: ORPHA:64280
disease_name: Childhood absence epilepsy
Pyknolepsy
gene_symbol: CACNA1H
disease_id: ORPHA:64280
disease_name: Childhood absence epilepsy
Pyknolepsy
gene_symbol: JRK
disease_id: ORPHA:64280
disease_name: Childhood absence epilepsy
Pyknolepsy
gene_symbol: GABRG2
disease_id: ORPHA:64280
disease_name: Childhood absence epilepsy
Pyknolepsy
gene_symbol: KCNA2
disease_id: OMIM:616366
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 32
gene_symbol: SETD1B
disease_id: OMIM:619000
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY
Phenotype: EEG with spike-wave complexes (>3.5 Hz) (HP:0010849)
Associated genes and diseases:
gene_symbol: SCN1A
disease_id: OMIM:619317
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B
gene_symbol: KCNMA1
disease_id: OMIM:609446
disease_name: PAROXYSMAL NONKINESIGENIC DYSKINESIA, 3, WITH OR WITHOUT GENERALIZED EPILEPSY
gene_symbol: KCNMA1
disease_id: ORPHA:79137
disease_name: Generalized epilepsy-paroxysmal dyskinesia syndrome
GEPD
gene_symbol: EFHC1
disease_id: OMIM:607631
disease_name: EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1
gene_symbol: GABRG2
disease_id: OMIM:607681
disease_name: FEBRILE SEIZURES, FAMILIAL, 8
Phenotype: EEG with persistent abnormal rhythmic activity (HP:0010846)
Associated genes and diseases:
gene_symbol: PRNP
disease_id: ORPHA:282166
disease_name: Inherited Creutzfeldt-Jakob disease
Inherited CJD
gene_symbol: GALC
disease_id: ORPHA:206443
disease_name: Late-infantile/juvenile Krabbe disease
Krabbe disease, late-onset
Phenotype: EEG with focal slow activity (HP:0010843)
Associated genes and diseases:
gene_symbol: MECP2
disease_id: ORPHA:209370
disease_name: Severe neonatal-onset encephalopathy with microcephaly
Severe congenital encephalopathy due to MECP2 mutation
gene_symbol: GNB1
disease_id: OMIM:616973
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
Phenotype: EEG with photoparoxysmal response (HP:0010852)
Associated genes and diseases:
gene_symbol: SAMD12
disease_id: OMIM:601068
disease_name: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1
gene_symbol: STARD7
disease_id: OMIM:607876
disease_name: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2
gene_symbol: FBXO28
disease_id: OMIM:619777
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100
gene_symbol: GABRA1
disease_id: OMIM:615744
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 19
gene_symbol: SHQ1
disease_id: OMIM:619922
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES
gene_symbol: CERS1
disease_id: OMIM:616230
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 8
gene_symbol: MARCHF6
disease_id: OMIM:613608
disease_name: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3
Phenotype: EEG with periodic lateralized epileptiform discharges (HP:0010853)
Associated genes and diseases:
gene_symbol: CARS2
disease_id: ORPHA:477774
disease_name: Combined oxidative phosphorylation defect type 27
COXPD27
Phenotype: Receptive language delay (HP:0010863)
Associated genes and diseases:
gene_symbol: CNTNAP2
disease_id: OMIM:610042
disease_name: PITT-HOPKINS-LIKE SYNDROME 1
gene_symbol: CNTNAP2
disease_id: ORPHA:163681
disease_name: CNTNAP2-related developmental and epileptic encephalopathy
CDFE syndrome
CDFES
CNTNAP2-related DEE
Cortical dysplasia-focal epilepsy syndrome
gene_symbol: UBB
disease_id: ORPHA:99772
disease_name: Cleft velum
Cleft soft palate
Cleft velum palatinum
gene_symbol: GRHL3
disease_id: ORPHA:99772
disease_name: Cleft velum
Cleft soft palate
Cleft velum palatinum
gene_symbol: FOXP2
disease_id: ORPHA:209908
disease_name: Isolated childhood apraxia of speech
Isolated CAS
Isolated developmental verbal dyspraxia
Pure CAS
Pure childhood apraxia of speech
Speech and language disorder with orofacial dyspraxia
Speech-language disorder type 1
gene_symbol: ALMS1
disease_id: ORPHA:64
disease_name: Alström syndrome
gene_symbol: RAI1
disease_id: OMIM:610883
disease_name: POTOCKI-LUPSKI SYNDROME
gene_symbol: FLCN
disease_id: OMIM:610883
disease_name: POTOCKI-LUPSKI SYNDROME
gene_symbol: RAP1GDS1
disease_id: OMIM:620655
disease_name: ALFADHEL SYNDROME
gene_symbol: PAK1
disease_id: OMIM:618158
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY
gene_symbol: AGO2
disease_id: OMIM:619149
disease_name: LESSEL-KREIENKAMP SYNDROME
gene_symbol: ATP9A
disease_id: OMIM:620242
disease_name: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES
gene_symbol: SH2B1
disease_id: ORPHA:261222
disease_name: Distal 16p11.2 microdeletion syndrome
Distal del(16)(p11.2)
Distal monosomy 16p11.2
gene_symbol: SH2B1
disease_id: ORPHA:261197
disease_name: Proximal 16p11.2 microdeletion syndrome
Proximal del(16)(p11.2)
Proximal monosomy 16p11.2
gene_symbol: EHMT1
disease_id: ORPHA:261652
disease_name: Kleefstra syndrome due to a point mutation
gene_symbol: KMT2C
disease_id: ORPHA:261652
disease_name: Kleefstra syndrome due to a point mutation
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: GNB1
disease_id: OMIM:616973
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
Phenotype: Oppositional defiant disorder (HP:0010865)
Associated genes and diseases:
gene_symbol: GNS
disease_id: OMIM:252940
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IIID
gene_symbol: COQ5
disease_id: OMIM:619028
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 9
Phenotype: Dyssynergia (HP:0010867)
Associated genes and diseases:
gene_symbol: ATN1
disease_id: ORPHA:101
disease_name: Dentatorubral pallidoluysian atrophy
DRPLA
Dentatorubropallidoluysian atrophy
Naito-Oyanagi disease
Phenotype: Sensory ataxia (HP:0010871)
Associated genes and diseases:
gene_symbol: MPZ
disease_id: OMIM:618184
disease_name: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2
gene_symbol: MPZ
disease_id: OMIM:145900
disease_name: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
gene_symbol: DNAJC3
disease_id: OMIM:616192
disease_name: ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS
gene_symbol: DNAJC3
disease_id: ORPHA:445062
disease_name: Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome
Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome
gene_symbol: TWNK
disease_id: OMIM:607459
disease_name: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
gene_symbol: TWNK
disease_id: OMIM:609286
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3
gene_symbol: POLG
disease_id: OMIM:607459
disease_name: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
gene_symbol: NAGLU
disease_id: OMIM:616491
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
gene_symbol: GPI
disease_id: OMIM:613470
disease_name: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
gene_symbol: PIEZO2
disease_id: OMIM:617146
disease_name: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
gene_symbol: AARS1
disease_id: OMIM:619661
disease_name: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2
gene_symbol: PRX
disease_id: OMIM:614895
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
gene_symbol: PRX
disease_id: OMIM:145900
disease_name: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
gene_symbol: KPNA3
disease_id: OMIM:620106
disease_name: SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT
gene_symbol: SH3TC2
disease_id: ORPHA:99949
disease_name: Charcot-Marie-Tooth disease type 4C
CMT4C
gene_symbol: RNF170
disease_id: OMIM:608984
disease_name: ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT
gene_symbol: PMP22
disease_id: OMIM:145900
disease_name: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
gene_symbol: PMP22
disease_id: ORPHA:101081
disease_name: Charcot-Marie-Tooth disease type 1A
CMT1A
Microduplication 17p12
gene_symbol: EGR2
disease_id: OMIM:145900
disease_name: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
gene_symbol: UCHL1
disease_id: OMIM:620221
disease_name: SPASTIC PARAPLEGIA 79A, AUTOSOMAL DOMINANT, WITH ATAXIA
gene_symbol: FLVCR1
disease_id: OMIM:609033
disease_name: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
Phenotype: T-wave inversion (HP:0010872)
Associated genes and diseases:
gene_symbol: HCN4
disease_id: OMIM:163800
disease_name: SICK SINUS SYNDROME 2
gene_symbol: MYL2
disease_id: OMIM:608758
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
gene_symbol: JUP
disease_id: OMIM:601214
disease_name: NAXOS DISEASE
gene_symbol: JUP
disease_id: OMIM:611528
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12
gene_symbol: PRKAG2
disease_id: OMIM:261740
disease_name: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
gene_symbol: GYG1
disease_id: ORPHA:263297
disease_name: Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
GSD type 15
GSD type XV
GSD with severe cardiomyopathy due to glycogenin deficiency
Glycogen storage disease type 15
Glycogen storage disease type XV
Glycogenosis type 15
Glycogenosis type XV
Glycogenosis with severe cardiomyopathy due to glycogenin deficiency
gene_symbol: GYG1
disease_id: OMIM:613507
disease_name: GLYCOGEN STORAGE DISEASE XV
gene_symbol: MYL3
disease_id: OMIM:608751
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
Phenotype: Cervical spinal cord atrophy (HP:0010873)
Associated genes and diseases:
gene_symbol: SPG7
disease_id: ORPHA:35689
disease_name: Primary lateral sclerosis
Adult-onset PLS
Adult-onset primary lateral sclerosis
PLS
gene_symbol: GFAP
disease_id: ORPHA:363722
disease_name: Alexander disease type II
AxD type II
gene_symbol: NEFL
disease_id: ORPHA:101085
disease_name: Charcot-Marie-Tooth disease type 1F
CMT1F
gene_symbol: PI4KA
disease_id: OMIM:619621
disease_name: SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE
gene_symbol: FXN
disease_id: ORPHA:95
disease_name: Friedreich ataxia
FA
FRDA
Phenotype: Tendon xanthomatosis (HP:0010874)
Associated genes and diseases:
gene_symbol: CYP27A1
disease_id: ORPHA:909
disease_name: Cerebrotendinous xanthomatosis
CTX
Sterol 27-hydroxylase deficiency
gene_symbol: CYP27A1
disease_id: OMIM:213700
disease_name: CEREBROTENDINOUS XANTHOMATOSIS
gene_symbol: LDLR
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: LDLR
disease_id: OMIM:143890
disease_name: HYPERCHOLESTEROLEMIA, FAMILIAL, 1
gene_symbol: PCSK9
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: PCSK9
disease_id: OMIM:603776
disease_name: HYPERCHOLESTEROLEMIA, FAMILIAL, 3
gene_symbol: LDLRAP1
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: LDLRAP1
disease_id: OMIM:603813
disease_name: HYPERCHOLESTEROLEMIA, FAMILIAL, 4
gene_symbol: APOB
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: ABCG5
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: ABCG5
disease_id: OMIM:618666
disease_name: SITOSTEROLEMIA 2
gene_symbol: ABCG8
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: APOA2
disease_id: OMIM:143890
disease_name: HYPERCHOLESTEROLEMIA, FAMILIAL, 1
gene_symbol: EPHX2
disease_id: OMIM:143890
disease_name: HYPERCHOLESTEROLEMIA, FAMILIAL, 1
gene_symbol: PPP1R17
disease_id: OMIM:143890
disease_name: HYPERCHOLESTEROLEMIA, FAMILIAL, 1
gene_symbol: GHR
disease_id: OMIM:143890
disease_name: HYPERCHOLESTEROLEMIA, FAMILIAL, 1
gene_symbol: TTPA
disease_id: OMIM:277460
disease_name: ATAXIA WITH VITAMIN 3 DEFICIENCY
gene_symbol: APOE
disease_id: ORPHA:412
disease_name: Dysbetalipoproteinemia
Broad-beta disease
Familial dyslipidemia type 3
HLP type 3
Hyperlipidemia type 3
Hyperlipoproteinemia type 3
Remnant hyperlipoproteinemia
gene_symbol: APOA1
disease_id: OMIM:618463
disease_name: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2
Phenotype: Chaddock reflex (HP:0010875)
Associated genes and diseases:
gene_symbol: LRP12
disease_id: OMIM:620452
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 28
gene_symbol: BSCL2
disease_id: OMIM:619112
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC
Phenotype: Monocular strabismus (HP:0010877)
Associated genes and diseases:
gene_symbol: H4C5
disease_id: OMIM:619950
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3
Phenotype: Pulmonary valve atresia (HP:0010882)
Associated genes and diseases:
gene_symbol: POLA1
disease_id: OMIM:301030
disease_name: VAN ESCH-O'DRISCOLL SYNDROME
gene_symbol: FOXF1
disease_id: OMIM:265380
disease_name: ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS
gene_symbol: FOXF1
disease_id: ORPHA:210122
disease_name: Congenital alveolar capillary dysplasia
ACDMPV
Alveolar capillary dysplasia with misalignment of pulmonary veins
Alveolar capillary dysplasia with misalignment of pulmonary vessels
gene_symbol: SMAD2
disease_id: OMIM:619657
disease_name: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY
gene_symbol: PIGL
disease_id: ORPHA:3474
disease_name: CHIME syndrome
Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome
Congenital disorder of glycosylation due to PIGL deficiency
Neuroectodermal dysplasia, CHIME type
Neuroectodermal syndrome, Zunich type
PIGL-CDG
Zunich-Kaye syndrome
Phenotype: Aortic valve atresia (HP:0010883)
Associated genes and diseases:
gene_symbol: LRPPRC
disease_id: OMIM:220111
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5
gene_symbol: NKX2-5
disease_id: OMIM:614435
disease_name: HYPOPLASTIC LEFT HEART SYNDROME 2
gene_symbol: PLCH1
disease_id: OMIM:619895
disease_name: HOLOPROSENCEPHALY 14
Phenotype: Acromelia (HP:0010884)
Associated genes and diseases:
gene_symbol: WNT3
disease_id: ORPHA:3301
disease_name: Tetraamelia-multiple malformations syndrome
PAPPA syndrome
PAPPAS
Zimmer phocomelia
gene_symbol: RSPO2
disease_id: ORPHA:3301
disease_name: Tetraamelia-multiple malformations syndrome
PAPPA syndrome
PAPPAS
Zimmer phocomelia
gene_symbol: TBX4
disease_id: ORPHA:3301
disease_name: Tetraamelia-multiple malformations syndrome
PAPPA syndrome
PAPPAS
Zimmer phocomelia
gene_symbol: CTSK
disease_id: ORPHA:763
disease_name: Pycnodysostosis
Pyknodysostosis
gene_symbol: TBCK
disease_id: OMIM:616900
disease_name: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
Phenotype: Osteochondritis dissecans (HP:0010886)
Associated genes and diseases:
gene_symbol: SMAD3
disease_id: ORPHA:284984
disease_name: Aneurysm-osteoarthritis syndrome
gene_symbol: SMAD3
disease_id: OMIM:613795
disease_name: LOEYS-DIETZ SYNDROME 3
gene_symbol: LMX1B
disease_id: ORPHA:2614
disease_name: Nail-patella syndrome
Onychoosteodysplasia
Turner-Kieser syndrome
gene_symbol: SMAD2
disease_id: OMIM:619656
disease_name: LOEYS-DIETZ SYNDROME 6
gene_symbol: COL9A2
disease_id: OMIM:600204
disease_name: EPIPHYSEAL DYSPLASIA, MULTIPLE, 2
gene_symbol: MMP13
disease_id: OMIM:250400
disease_name: METAPHYSEAL DYSPLASIA, SPAHR TYPE
gene_symbol: ORC1
disease_id: OMIM:224690
disease_name: MEIER-GORLIN SYNDROME 1
gene_symbol: ACAN
disease_id: OMIM:165800
disease_name: SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS
Phenotype: Intracranial meningioma (HP:0100009)
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: 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: 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
Phenotype: Malignant mesothelioma (HP:0100001)
Associated genes and diseases:
gene_symbol: BCL10
disease_id: OMIM:156240
disease_name: MESOTHELIOMA, MALIGNANT
gene_symbol: WT1
disease_id: OMIM:156240
disease_name: MESOTHELIOMA, MALIGNANT
gene_symbol: BAP1
disease_id: OMIM:614327
disease_name: TUMOR PREDISPOSITION SYNDROME
Phenotype: Morbus Scheuermann (HP:0010891)
Associated genes and diseases:
gene_symbol: PHF6
disease_id: OMIM:301900
disease_name: BORJESON-FORSSMAN-LEHMANN SYNDROME
gene_symbol: COL2A1
disease_id: OMIM:108300
disease_name: STICKLER SYNDROME, TYPE I
Phenotype: Abnormal circulating branched chain amino acid concentration (HP:0010892)
Associated genes and diseases:
gene_symbol: MCCC1
disease_id: ORPHA:6
disease_name: 3-methylcrotonyl-CoA carboxylase deficiency
3-methylcrotonylglycinuria
MCC deficiency
MCCD
gene_symbol: MCCC2
disease_id: ORPHA:6
disease_name: 3-methylcrotonyl-CoA carboxylase deficiency
3-methylcrotonylglycinuria
MCC deficiency
MCCD
gene_symbol: DLD
disease_id: ORPHA:2394
disease_name: Pyruvate dehydrogenase E3 deficiency
DLD deficiency
Dihydrolipoamide dehydrogenase deficiency
E3-deficient maple syrup urine disease
gene_symbol: BCKDHA
disease_id: OMIM:248600
disease_name: MAPLE SYRUP URINE DISEASE
gene_symbol: MICU1
disease_id: OMIM:615673
disease_name: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS
gene_symbol: PPM1K
disease_id: OMIM:615135
disease_name: MAPLE SYRUP URINE DISEASE, MILD VARIANT
gene_symbol: BCKDHB
disease_id: OMIM:620698
disease_name: MAPLE SYRUP URINE DISEASE, TYPE IB
gene_symbol: BCAT2
disease_id: OMIM:618850
disease_name: HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA
gene_symbol: ATP5F1B
disease_id: OMIM:620085
disease_name: HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2
gene_symbol: BCKDK
disease_id: OMIM:614923
disease_name: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY
Phenotype: Abnormal circulating phenylalanine concentration (HP:0010893)
Associated genes and diseases:
gene_symbol: FTCD
disease_id: OMIM:229100
disease_name: GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY
gene_symbol: PAH
disease_id: OMIM:261600
disease_name: PHENYLKETONURIA
gene_symbol: PAH
disease_id: ORPHA:79254
disease_name: Classic phenylketonuria
Classic PKU
gene_symbol: PCBD1
disease_id: OMIM:264070
disease_name: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D
gene_symbol: PCBD1
disease_id: ORPHA:1578
disease_name: Pterin-4 alpha-carbinolamine dehydratase deficiency
Hyperphenylalaninemia due to dehydratase deficiency
Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency
Hyperphenylalaninemia with primapterinuria
gene_symbol: GCH1
disease_id: OMIM:233910
disease_name: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B
gene_symbol: PTS
disease_id: OMIM:261640
disease_name: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A
gene_symbol: QDPR
disease_id: OMIM:261630
disease_name: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C
gene_symbol: SPR
disease_id: OMIM:612716
disease_name: DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
gene_symbol: NR4A2
disease_id: ORPHA:98808
disease_name: Autosomal dominant dopa-responsive dystonia
Autosomal dominant Segawa syndrome
DYT5a
GTPCH1-deficient DRD
GTPCH1-deficient dopa-responsive dystonia
HPD with marked diurnal fluctuation
Hereditary progressive dystonia with marked diurnal fluctuation
gene_symbol: IMPDH2
disease_id: ORPHA:98808
disease_name: Autosomal dominant dopa-responsive dystonia
Autosomal dominant Segawa syndrome
DYT5a
GTPCH1-deficient DRD
GTPCH1-deficient dopa-responsive dystonia
HPD with marked diurnal fluctuation
Hereditary progressive dystonia with marked diurnal fluctuation
Phenotype: Hypersarcosinemia (HP:0010896)
Associated genes and diseases:
gene_symbol: SARDH
disease_id: ORPHA:3129
disease_name: Sarcosinemia
Sarcosine dehydrogenase complex deficiency
gene_symbol: SARDH
disease_id: OMIM:268900
disease_name: SARCOSINEMIA
Phenotype: Hypersarcosinuria (HP:0010897)
Associated genes and diseases:
gene_symbol: SARDH
disease_id: ORPHA:3129
disease_name: Sarcosinemia
Sarcosine dehydrogenase complex deficiency
Phenotype: Abnormal circulating sarcosine concentration (HP:0010898)
Associated genes and diseases:
gene_symbol: SARDH
disease_id: ORPHA:3129
disease_name: Sarcosinemia
Sarcosine dehydrogenase complex deficiency
gene_symbol: SARDH
disease_id: OMIM:268900
disease_name: SARCOSINEMIA
Phenotype: Spinal meningioma (HP:0100010)
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: 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: 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