TaoMedAI/RareMedData huggingface dataset:
Phenotype: Simple ear (HP:0020206)
Associated genes and diseases:
gene_symbol: SH3PXD2B
disease_id: OMIM:249420
disease_name: FRANK-TER HAAR SYNDROME
gene_symbol: POR
disease_id: OMIM:201750
disease_name: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
gene_symbol: CCDC47
disease_id: OMIM:618268
disease_name: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME
gene_symbol: BICRA
disease_id: OMIM:619325
disease_name: COFFIN-SIRIS SYNDROME 12
gene_symbol: ASNS
disease_id: OMIM:615574
disease_name: ASPARAGINE SYNTHETASE DEFICIENCY
gene_symbol: SMARCD2
disease_id: OMIM:617475
disease_name: SPECIFIC GRANULE DEFICIENCY 2
gene_symbol: RERE
disease_id: OMIM:616975
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
gene_symbol: GJA8
disease_id: OMIM:612474
disease_name: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
gene_symbol: GJA5
disease_id: OMIM:612474
disease_name: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
gene_symbol: EP300
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: CREBBP
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: GRIP1
disease_id: OMIM:617667
disease_name: FRASER SYNDROME 3
gene_symbol: YY1
disease_id: OMIM:617557
disease_name: GABRIELE-DE VRIES SYNDROME
gene_symbol: EXTL3
disease_id: OMIM:617425
disease_name: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
gene_symbol: ATP6V1A
disease_id: OMIM:617403
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID
gene_symbol: NANS
disease_id: OMIM:610442
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE
gene_symbol: WDR35
disease_id: OMIM:613610
disease_name: CRANIOECTODERMAL DYSPLASIA 2
gene_symbol: DDB1
disease_id: OMIM:619426
disease_name: WHITE-KERNOHAN SYNDROME
gene_symbol: DHX16
disease_id: OMIM:618733
disease_name: NEUROMUSCULAR OCULOAUDITORY SYNDROME
gene_symbol: EXOC2
disease_id: OMIM:619306
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA
gene_symbol: CAPN15
disease_id: OMIM:619318
disease_name: OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME
gene_symbol: MED12
disease_id: OMIM:305450
disease_name: OPITZ-KAVEGGIA SYNDROME
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: NSRP1
disease_id: OMIM:620001
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME
gene_symbol: GSC
disease_id: OMIM:602471
disease_name: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES
Phenotype: Reflex seizure (HP:0020207)
Associated genes and diseases:
gene_symbol: KCTD7
disease_id: ORPHA:263516
disease_name: Progressive myoclonic epilepsy type 3
EPM3
PME type 3
Progressive myoclonic epilepsy due to KCTD7 deficiency
Progressive myoclonus epilepsy type 3
gene_symbol: SCN9A
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: SCN2A
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: GABRA1
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: SCN1B
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: PCDH19
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: GABRG2
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: SLC9A6
disease_id: OMIM:300243
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE
gene_symbol: EFHC1
disease_id: ORPHA:307
disease_name: Juvenile myoclonic epilepsy
JME
Juvenile myoclonus epilepsy
gene_symbol: GABRD
disease_id: ORPHA:307
disease_name: Juvenile myoclonic epilepsy
JME
Juvenile myoclonus epilepsy
gene_symbol: CLCN2
disease_id: ORPHA:307
disease_name: Juvenile myoclonic epilepsy
JME
Juvenile myoclonus epilepsy
gene_symbol: KCNQ3
disease_id: ORPHA:307
disease_name: Juvenile myoclonic epilepsy
JME
Juvenile myoclonus epilepsy
gene_symbol: CILK1
disease_id: ORPHA:307
disease_name: Juvenile myoclonic epilepsy
JME
Juvenile myoclonus epilepsy
gene_symbol: JRK
disease_id: ORPHA:307
disease_name: Juvenile myoclonic epilepsy
JME
Juvenile myoclonus epilepsy
gene_symbol: CACNB4
disease_id: ORPHA:307
disease_name: Juvenile myoclonic epilepsy
JME
Juvenile myoclonus epilepsy
gene_symbol: SYNGAP1
disease_id: ORPHA:544254
disease_name: SYNGAP1-related developmental and epileptic encephalopathy
SYNGAP1-related DEE
gene_symbol: TUBB2B
disease_id: ORPHA:467166
disease_name: Tubulinopathy-associated dysgyria
Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome
gene_symbol: TUBA1A
disease_id: ORPHA:467166
disease_name: Tubulinopathy-associated dysgyria
Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome
gene_symbol: TUBB3
disease_id: ORPHA:467166
disease_name: Tubulinopathy-associated dysgyria
Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome
gene_symbol: CHD2
disease_id: OMIM:615369
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94
gene_symbol: SCN1A
disease_id: OMIM:607208
disease_name: DRAVET SYNDROME
gene_symbol: CPA6
disease_id: OMIM:614417
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 5
Phenotype: Eating-induced seizure (HP:0020208)
Associated genes and diseases:
gene_symbol: SYNGAP1
disease_id: ORPHA:544254
disease_name: SYNGAP1-related developmental and epileptic encephalopathy
SYNGAP1-related DEE
Phenotype: Incomplete ossification of pubis (HP:0030042)
Associated genes and diseases:
gene_symbol: FGFR2
disease_id: ORPHA:313855
disease_name: FGFR2-related bent bone dysplasia
Perinatal lethal bent bone dysplasia
Phenotype: Schmorl's node (HP:0030041)
Associated genes and diseases:
gene_symbol: COL9A1
disease_id: OMIM:614135
disease_name: EPIPHYSEAL DYSPLASIA, MULTIPLE, 6
gene_symbol: COL2A1
disease_id: OMIM:604864
disease_name: OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA
Phenotype: Brain abscess (HP:0030049)
Associated genes and diseases:
gene_symbol: ACVRL1
disease_id: OMIM:600376
disease_name: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2
gene_symbol: ENG
disease_id: OMIM:187300
disease_name: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1
gene_symbol: FGFR3
disease_id: OMIM:616482
disease_name: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS
Phenotype: Elevated circulating sebacic acid concentration (HP:0033325)
Associated genes and diseases:
gene_symbol: UQCRC2
disease_id: OMIM:615160
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5
Phenotype: Startle-induced seizure (HP:0020214)
Associated genes and diseases:
gene_symbol: TUBB2B
disease_id: ORPHA:467166
disease_name: Tubulinopathy-associated dysgyria
Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome
gene_symbol: TUBA1A
disease_id: ORPHA:467166
disease_name: Tubulinopathy-associated dysgyria
Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome
gene_symbol: TUBB3
disease_id: ORPHA:467166
disease_name: Tubulinopathy-associated dysgyria
Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome
Phenotype: Visually-induced seizure (HP:0020216)
Associated genes and diseases:
gene_symbol: KCTD7
disease_id: ORPHA:263516
disease_name: Progressive myoclonic epilepsy type 3
EPM3
PME type 3
Progressive myoclonic epilepsy due to KCTD7 deficiency
Progressive myoclonus epilepsy type 3
gene_symbol: SCN9A
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: SCN2A
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: GABRA1
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: SCN1B
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: PCDH19
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: GABRG2
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: SLC9A6
disease_id: OMIM:300243
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE
gene_symbol: EFHC1
disease_id: ORPHA:307
disease_name: Juvenile myoclonic epilepsy
JME
Juvenile myoclonus epilepsy
gene_symbol: GABRD
disease_id: ORPHA:307
disease_name: Juvenile myoclonic epilepsy
JME
Juvenile myoclonus epilepsy
gene_symbol: CLCN2
disease_id: ORPHA:307
disease_name: Juvenile myoclonic epilepsy
JME
Juvenile myoclonus epilepsy
gene_symbol: KCNQ3
disease_id: ORPHA:307
disease_name: Juvenile myoclonic epilepsy
JME
Juvenile myoclonus epilepsy
gene_symbol: CILK1
disease_id: ORPHA:307
disease_name: Juvenile myoclonic epilepsy
JME
Juvenile myoclonus epilepsy
gene_symbol: JRK
disease_id: ORPHA:307
disease_name: Juvenile myoclonic epilepsy
JME
Juvenile myoclonus epilepsy
gene_symbol: CACNB4
disease_id: ORPHA:307
disease_name: Juvenile myoclonic epilepsy
JME
Juvenile myoclonus epilepsy
gene_symbol: CHD2
disease_id: OMIM:615369
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94
gene_symbol: SCN1A
disease_id: OMIM:607208
disease_name: DRAVET SYNDROME
gene_symbol: CPA6
disease_id: OMIM:614417
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 5
Phenotype: Focal aware motor seizure (HP:0020217)
Associated genes and diseases:
gene_symbol: KCNH5
disease_id: OMIM:620537
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112
gene_symbol: ALDH7A1
disease_id: ORPHA:3006
disease_name: Pyridoxine-dependent epilepsy
Antiquitin deficiency
Vitamin B6-dependent seizures
gene_symbol: PLPBP
disease_id: ORPHA:3006
disease_name: Pyridoxine-dependent epilepsy
Antiquitin deficiency
Vitamin B6-dependent seizures
Phenotype: Abnormal postural reflex (HP:0033329)
Associated genes and diseases:
gene_symbol: COASY
disease_id: OMIM:615643
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6
gene_symbol: WDR45
disease_id: OMIM:300894
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
Phenotype: Type II pneumocyte hyperplasia (HP:0033328)
Associated genes and diseases:
gene_symbol: SFTPC
disease_id: OMIM:610913
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2
gene_symbol: KMT2D
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: KDM6A
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
Phenotype: Mitochondrial depletion (HP:0030059)
Associated genes and diseases:
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: MGME1
disease_id: OMIM:615084
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 11
gene_symbol: LIG3
disease_id: OMIM:619780
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE)
gene_symbol: DNA2
disease_id: OMIM:615156
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6
gene_symbol: RRM2B
disease_id: OMIM:613077
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5
gene_symbol: RRM1
disease_id: OMIM:620647
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 6
gene_symbol: TYMP
disease_id: OMIM:603041
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
gene_symbol: POLG2
disease_id: OMIM:618528
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE)
gene_symbol: DGUOK
disease_id: OMIM:251880
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
gene_symbol: SUCLG1
disease_id: OMIM:245400
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)
gene_symbol: SLC25A10
disease_id: OMIM:618972
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 19
gene_symbol: SLC25A4
disease_id: OMIM:617184
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT
gene_symbol: TOP3A
disease_id: OMIM:618097
disease_name: MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2
gene_symbol: TK2
disease_id: OMIM:617069
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3
gene_symbol: TK2
disease_id: OMIM:609560
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
gene_symbol: ATP5F1A
disease_id: OMIM:616045
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22
gene_symbol: TFAM
disease_id: OMIM:617156
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE)
gene_symbol: POLG
disease_id: OMIM:613662
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
gene_symbol: OPA1
disease_id: OMIM:616896
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE)
gene_symbol: AGK
disease_id: OMIM:212350
disease_name: SENGERS SYNDROME
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: FBXL4
disease_id: OMIM:615471
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
gene_symbol: NEB
disease_id: OMIM:256030
disease_name: NEMALINE MYOPATHY 2
gene_symbol: TTN
disease_id: OMIM:611705
disease_name: SALIH MYOPATHY
Phenotype: Sickled erythrocytes (HP:0030058)
Associated genes and diseases:
gene_symbol: HBB
disease_id: ORPHA:90039
disease_name: Hemoglobin D disease
Phenotype: Uncombable hair (HP:0030056)
Associated genes and diseases:
gene_symbol: HRURF
disease_id: OMIM:146550
disease_name: HYPOTRICHOSIS 4
gene_symbol: SKIC3
disease_id: ORPHA:84064
disease_name: Syndromic diarrhea
Phenotypic diarrhea
SD/THE
Syndromic diarrhea/Tricho-hepato-enteric syndrome
Tricho-hepato-enteric syndrome
Trichohepatoenteric syndrome
gene_symbol: SKIC2
disease_id: ORPHA:84064
disease_name: Syndromic diarrhea
Phenotypic diarrhea
SD/THE
Syndromic diarrhea/Tricho-hepato-enteric syndrome
Tricho-hepato-enteric syndrome
Trichohepatoenteric syndrome
gene_symbol: SKIC2
disease_id: OMIM:614602
disease_name: TRICHOHEPATOENTERIC SYNDROME 2
gene_symbol: PADI3
disease_id: OMIM:191480
disease_name: UNCOMBABLE HAIR SYNDROME 1
gene_symbol: TP63
disease_id: OMIM:129400
disease_name: RAPP-HODGKIN SYNDROME
gene_symbol: TCHH
disease_id: OMIM:617252
disease_name: UNCOMBABLE HAIR SYNDROME 3
gene_symbol: TGM3
disease_id: OMIM:617251
disease_name: UNCOMBABLE HAIR SYNDROME 2
Phenotype: Perifollicular fibrosis (HP:0030054)
Associated genes and diseases:
gene_symbol: MBTPS2
disease_id: OMIM:308800
disease_name: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED
Phenotype: Stiff skin (HP:0030053)
Associated genes and diseases:
gene_symbol: ADA2
disease_id: OMIM:615688
disease_name: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
gene_symbol: LMNA
disease_id: ORPHA:1662
disease_name: Restrictive dermopathy
Lethal hyperkeratosis-contracture syndrome
Lethal restrictive dermopathy
Lethal tight skin-contracture syndrome
gene_symbol: ZMPSTE24
disease_id: ORPHA:1662
disease_name: Restrictive dermopathy
Lethal hyperkeratosis-contracture syndrome
Lethal restrictive dermopathy
Lethal tight skin-contracture syndrome
gene_symbol: SLC29A3
disease_id: ORPHA:168569
disease_name: H syndrome
gene_symbol: PSMB8
disease_id: OMIM:256040
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
gene_symbol: SMAD4
disease_id: OMIM:139210
disease_name: MYHRE SYNDROME
gene_symbol: FBN1
disease_id: OMIM:184900
disease_name: STIFF SKIN SYNDROME
Phenotype: Inguinal freckling (HP:0030052)
Associated genes and diseases:
gene_symbol: NF1
disease_id: OMIM:601321
disease_name: NEUROFIBROMATOSIS-NOONAN SYNDROME
gene_symbol: NF1
disease_id: OMIM:162200
disease_name: NEUROFIBROMATOSIS, TYPE I
gene_symbol: NF1
disease_id: OMIM:193520
disease_name: WATSON SYNDROME
gene_symbol: NF1
disease_id: ORPHA:363700
disease_name: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
Von Recklinghausen disease due to NF1 mutation or intragenic deletion
gene_symbol: SPRED1
disease_id: OMIM:611431
disease_name: LEGIUS SYNDROME
gene_symbol: SPRED1
disease_id: ORPHA:137605
disease_name: Legius syndrome
NF1-like syndrome
Neurofibromatosis 1-like syndrome
Nonmosaic LGSS
Nonmosaic Legius syndrome
gene_symbol: POGLUT1
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: KRT5
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: POFUT1
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: PSENEN
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: NF2
disease_id: OMIM:101000
disease_name: NEUROFIBROMATOSIS, TYPE II
Phenotype: Narcolepsy (HP:0030050)
Associated genes and diseases:
gene_symbol: HCRT
disease_id: OMIM:161400
disease_name: NARCOLEPSY 1
gene_symbol: DNMT1
disease_id: ORPHA:314404
disease_name: Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
ADCA-DN syndrome
Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome
gene_symbol: DNMT1
disease_id: OMIM:604121
disease_name: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
gene_symbol: MOG
disease_id: OMIM:614250
disease_name: NARCOLEPSY 7
Phenotype: Elevated circulating amyloid A concentration (HP:0033332)
Associated genes and diseases:
gene_symbol: MEFV
disease_id: OMIM:249100
disease_name: FAMILIAL MEDITERRANEAN FEVER
gene_symbol: IL6ST
disease_id: OMIM:619750
disease_name: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES
Phenotype: Jaw contracture (HP:0033333)
Associated genes and diseases:
gene_symbol: CNTN1
disease_id: OMIM:612540
disease_name: MYOPATHY, CONGENITAL, COMPTON-NORTH
Phenotype: Abnormal embryonic development (HP:0033334)
Associated genes and diseases:
gene_symbol: PADI6
disease_id: OMIM:617234
disease_name: PREIMPLANTATION EMBRYONIC LETHALITY 2
gene_symbol: FBXO43
disease_id: OMIM:619697
disease_name: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 12
gene_symbol: BTG4
disease_id: OMIM:619009
disease_name: OOCYTE MATURATION DEFECT 8
gene_symbol: CHEK1
disease_id: OMIM:620610
disease_name: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 21
gene_symbol: TRIP13
disease_id: OMIM:619011
disease_name: OOCYTE MATURATION DEFECT 9
gene_symbol: IQCN
disease_id: OMIM:620170
disease_name: SPERMATOGENIC FAILURE 78
gene_symbol: ZFP36L2
disease_id: OMIM:620154
disease_name: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 13
gene_symbol: REC114
disease_id: OMIM:619176
disease_name: OOCYTE MATURATION DEFECT 10
Phenotype: Abnormal preimplantation embryonic development (HP:0033335)
Associated genes and diseases:
gene_symbol: PADI6
disease_id: OMIM:617234
disease_name: PREIMPLANTATION EMBRYONIC LETHALITY 2
gene_symbol: FBXO43
disease_id: OMIM:619697
disease_name: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 12
gene_symbol: BTG4
disease_id: OMIM:619009
disease_name: OOCYTE MATURATION DEFECT 8
gene_symbol: CHEK1
disease_id: OMIM:620610
disease_name: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 21
gene_symbol: TRIP13
disease_id: OMIM:619011
disease_name: OOCYTE MATURATION DEFECT 9
gene_symbol: IQCN
disease_id: OMIM:620170
disease_name: SPERMATOGENIC FAILURE 78
gene_symbol: ZFP36L2
disease_id: OMIM:620154
disease_name: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 13
gene_symbol: REC114
disease_id: OMIM:619176
disease_name: OOCYTE MATURATION DEFECT 10
Phenotype: Hypohomocysteinemia (HP:0020222)
Associated genes and diseases:
gene_symbol: NFE2L2
disease_id: OMIM:617744
disease_name: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA
Phenotype: Dermal sinus tract (HP:0020223)
Associated genes and diseases:
gene_symbol: VANGL1
disease_id: OMIM:600145
disease_name: SACRAL DEFECT WITH ANTERIOR MENINGOCELE
gene_symbol: FOXI3
disease_id: OMIM:620444
disease_name: CRANIOFACIAL MICROSOMIA 2
Phenotype: Zygotic cleavage failure (HP:0033336)
Associated genes and diseases:
gene_symbol: BTG4
disease_id: OMIM:619009
disease_name: OOCYTE MATURATION DEFECT 8
gene_symbol: CHEK1
disease_id: OMIM:620610
disease_name: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 21
gene_symbol: TRIP13
disease_id: OMIM:619011
disease_name: OOCYTE MATURATION DEFECT 9
Phenotype: Abnormal female meiosis (HP:0033338)
Associated genes and diseases:
gene_symbol: PATL2
disease_id: OMIM:617743
disease_name: OOCYTE MATURATION DEFECT 4
gene_symbol: PATL2
disease_id: ORPHA:488191
disease_name: Female infertility due to oocyte meiotic arrest
gene_symbol: TUBB8
disease_id: OMIM:616780
disease_name: OOCYTE MATURATION DEFECT 2
gene_symbol: TUBB8
disease_id: ORPHA:488191
disease_name: Female infertility due to oocyte meiotic arrest
gene_symbol: TRIP13
disease_id: OMIM:619011
disease_name: OOCYTE MATURATION DEFECT 9
gene_symbol: PANX1
disease_id: ORPHA:488191
disease_name: Female infertility due to oocyte meiotic arrest
gene_symbol: TLE6
disease_id: ORPHA:488191
disease_name: Female infertility due to oocyte meiotic arrest
gene_symbol: WEE2
disease_id: OMIM:617996
disease_name: OOCYTE MATURATION DEFECT 5
gene_symbol: CDC20
disease_id: OMIM:620276
disease_name: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 14
Phenotype: Abnormal gametogenesis (HP:0033337)
Associated genes and diseases:
gene_symbol: PANX1
disease_id: ORPHA:488191
disease_name: Female infertility due to oocyte meiotic arrest
gene_symbol: WEE2
disease_id: ORPHA:488191
disease_name: Female infertility due to oocyte meiotic arrest
gene_symbol: PATL2
disease_id: ORPHA:488191
disease_name: Female infertility due to oocyte meiotic arrest
gene_symbol: TUBB8
disease_id: ORPHA:488191
disease_name: Female infertility due to oocyte meiotic arrest
gene_symbol: TLE6
disease_id: ORPHA:488191
disease_name: Female infertility due to oocyte meiotic arrest
gene_symbol: TRIP13
disease_id: OMIM:619011
disease_name: OOCYTE MATURATION DEFECT 9
gene_symbol: CDC20
disease_id: OMIM:620276
disease_name: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 14
Phenotype: Increased circulating inosine concentration (HP:0033339)
Associated genes and diseases:
gene_symbol: PNP
disease_id: OMIM:613179
disease_name: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
Phenotype: Craniopharyngioma (HP:0030062)
Associated genes and diseases:
gene_symbol: IGF2
disease_id: OMIM:180860
disease_name: SILVER-RUSSELL SYNDROME 1
Phenotype: Increased circulating guanosine concentration (HP:0033340)
Associated genes and diseases:
gene_symbol: PNP
disease_id: OMIM:613179
disease_name: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
Phenotype: Elevated circulating sitosterol concentration (HP:0033341)
Associated genes and diseases:
gene_symbol: ABCG5
disease_id: OMIM:618666
disease_name: SITOSTEROLEMIA 2
gene_symbol: ABCG5
disease_id: ORPHA:2882
disease_name: Sitosterolemia
Phytosterolemia
gene_symbol: ABCG8
disease_id: ORPHA:2882
disease_name: Sitosterolemia
Phytosterolemia
gene_symbol: ABCG8
disease_id: OMIM:210250
disease_name: SITOSTEROLEMIA 1
Phenotype: Anti-aquaporin 4 antibody positivity (HP:0033342)
Associated genes and diseases:
gene_symbol: TLR7
disease_id: OMIM:301080
disease_name: SYSTEMIC LUPUS ERYTHEMATOSUS 17
Phenotype: Mucoid diarrhea (HP:0033343)
Associated genes and diseases:
gene_symbol: IL21
disease_id: OMIM:615767
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 11