TaoMedAI/RareMedData huggingface dataset:
Rare disease: Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome (Orphanet code 166024)
Associated genes:
Name: kinesin family member 7
Symbol: KIF7
Synonyms: lang: en
text: JBTS12
GeneType: Name: gene with protein product
Rare disease: Aspartylglucosaminuria (Orphanet code 93)
Associated genes:
Name: aspartylglucosaminidase
Symbol: AGA
Synonyms: lang: en
text: ASRG
lang: en
text: N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase
lang: en
text: glycosylasparaginase
GeneType: Name: gene with protein product
Rare disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (Orphanet code 166035)
Associated genes:
Name: CWC27 spliceosome associated cyclophilin
Symbol: CWC27
Synonyms: lang: en
text: NY-CO-10
lang: en
text: SDCCAG-10
GeneType: Name: gene with protein product
Rare disease: Multiple sulfatase deficiency (Orphanet code 585)
Associated genes:
Name: sulfatase modifying factor 1
Symbol: SUMF1
Synonyms: lang: en
text: FGE
lang: en
text: UNQ3037
GeneType: Name: gene with protein product
Rare disease: Beta-mannosidosis (Orphanet code 118)
Associated genes:
Name: mannosidase beta
Symbol: MANBA
Synonyms: lang: en
text: beta-mannosidase A
GeneType: Name: gene with protein product
Rare disease: Pontocerebellar hypoplasia type 4 (Orphanet code 166063)
Associated genes:
Name: tRNA splicing endonuclease subunit 54
Symbol: TSEN54
Synonyms: lang: en
text: SEN54
lang: en
text: SEN54L
GeneType: Name: gene with protein product
Rare disease: Von Willebrand disease type 1 (Orphanet code 166078)
Associated genes:
Name: von Willebrand factor
Symbol: VWF
Synonyms: lang: en
text: Factor VIII related antigen
GeneType: Name: gene with protein product
Rare disease: Pontocerebellar hypoplasia type 6 (Orphanet code 166073)
Associated genes:
Name: arginyl-tRNA synthetase 2, mitochondrial
Symbol: RARS2
Synonyms: lang: en
text: DALRD2
lang: en
text: MGC14993
lang: en
text: MGC23778
lang: en
text: PRO1992
lang: en
text: arginine tRNA ligase 2, mitochondrial (putative)
lang: en
text: dJ382I10.6
GeneType: Name: gene with protein product
Rare disease: Von Willebrand disease type 2A (Orphanet code 166084)
Associated genes:
Name: von Willebrand factor
Symbol: VWF
Synonyms: lang: en
text: Factor VIII related antigen
GeneType: Name: gene with protein product
Rare disease: Farber disease (Orphanet code 333)
Associated genes:
Name: N-acylsphingosine amidohydrolase 1
Symbol: ASAH1
Synonyms: lang: en
text: AC
lang: en
text: ACDase
lang: en
text: FLJ21558
lang: en
text: PHP32
lang: en
text: acid ceramidase
lang: en
text: acylsphingosine deacylase
GeneType: Name: gene with protein product
Rare disease: Fucosidosis (Orphanet code 349)
Associated genes:
Name: alpha-L-fucosidase 1
Symbol: FUCA1
Synonyms: lang: en
text: a-L-fucosidase 1
lang: en
text: tissue fucosidase
GeneType: Name: gene with protein product
Rare disease: Von Willebrand disease type 2M (Orphanet code 166090)
Associated genes:
Name: von Willebrand factor
Symbol: VWF
Synonyms: lang: en
text: Factor VIII related antigen
GeneType: Name: gene with protein product
Rare disease: Von Willebrand disease type 2B (Orphanet code 166087)
Associated genes:
Name: von Willebrand factor
Symbol: VWF
Synonyms: lang: en
text: Factor VIII related antigen
GeneType: Name: gene with protein product
Rare disease: Glycogen storage disease due to glycogen debranching enzyme deficiency (Orphanet code 366)
Associated genes:
Name: amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
Symbol: AGL
Synonyms: lang: en
text: GDE
lang: en
text: glycogen debranching enzyme
lang: en
text: glycogen storage disease type III
GeneType: Name: gene with protein product
Rare disease: Von Willebrand disease type 2N (Orphanet code 166093)
Associated genes:
Name: von Willebrand factor
Symbol: VWF
Synonyms: lang: en
text: Factor VIII related antigen
GeneType: Name: gene with protein product
Rare disease: Glycogen storage disease due to muscle glycogen phosphorylase deficiency (Orphanet code 368)
Associated genes:
Name: glycogen phosphorylase, muscle associated
Symbol: PYGM
Synonyms: lang: en
text: GSD5
lang: en
text: McArdle syndrome
lang: en
text: glycogen phosphorylase, muscle form
lang: en
text: glycogen storage disease type V
lang: en
text: myophosphorylase
GeneType: Name: gene with protein product
Rare disease: Von Willebrand disease type 3 (Orphanet code 166096)
Associated genes:
Name: von Willebrand factor
Symbol: VWF
Synonyms: lang: en
text: Factor VIII related antigen
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant otospondylomegaepiphyseal dysplasia (Orphanet code 166100)
Associated genes:
Name: collagen type II alpha 1 chain
Symbol: COL2A1
Synonyms: lang: en
text: STL1
GeneType: Name: gene with protein product
Name: collagen type XI alpha 2 chain
Symbol: COL11A2
Synonyms: lang: en
text: HKE5
GeneType: Name: gene with protein product
Rare disease: Glycogen storage disease due to muscle phosphofructokinase deficiency (Orphanet code 371)
Associated genes:
Name: phosphofructokinase, muscle
Symbol: PFKM
Synonyms: lang: en
text: PFK-1
lang: en
text: PPP1R122
lang: en
text: protein phosphatase 1, regulatory subunit 122
GeneType: Name: gene with protein product
Rare disease: FASTKD2-related infantile mitochondrial encephalomyopathy (Orphanet code 166105)
Associated genes:
Name: FAST kinase domains 2
Symbol: FASTKD2
GeneType: Name: gene with protein product
Rare disease: Glycogen storage disease due to liver glycogen phosphorylase deficiency (Orphanet code 369)
Associated genes:
Name: glycogen phosphorylase L
Symbol: PYGL
Synonyms: lang: en
text: GSD6
lang: en
text: Hers disease
lang: en
text: glycogen phosphorylase, liver form
lang: en
text: glycogen storage disease type VI
GeneType: Name: gene with protein product
Rare disease: Paroxysmal nocturnal hemoglobinuria (Orphanet code 447)
Associated genes:
Name: phosphatidylinositol glycan anchor biosynthesis class A
Symbol: PIGA
Synonyms: lang: en
text: GPI3
lang: en
text: GPI3 (SPT14) homolog (S. cerevisiae)
lang: en
text: PIG-A
lang: en
text: Phosphatidylinositol N-acetylglucosaminyltransferase subunit A
lang: en
text: paroxysmal nocturnal hemoglobinuria
GeneType: Name: gene with protein product
Rare disease: Intellectual disability, Birk-Barel type (Orphanet code 166108)
Associated genes:
Name: potassium two pore domain channel subfamily K member 9
Symbol: KCNK9
Synonyms: lang: en
text: K2p9.1
lang: en
text: TASK-3
lang: en
text: TASK3
lang: en
text: TWIK-related acid-sensitive K+ 3
GeneType: Name: gene with protein product
Rare disease: Isolated osteopoikilosis (Orphanet code 166119)
Associated genes:
Name: LEM domain containing 3
Symbol: LEMD3
Synonyms: lang: en
text: MAN antigen 1
lang: en
text: MAN1
lang: en
text: inner nuclear membrane protein Man1
GeneType: Name: gene with protein product
Rare disease: Dentinogenesis imperfecta type 2 (Orphanet code 166260)
Associated genes:
Name: dentin sialophosphoprotein
Symbol: DSPP
Synonyms: lang: en
text: DMP3
GeneType: Name: gene with protein product
Rare disease: Dentinogenesis imperfecta type 3 (Orphanet code 166265)
Associated genes:
Name: dentin sialophosphoprotein
Symbol: DSPP
Synonyms: lang: en
text: DMP3
GeneType: Name: gene with protein product
Rare disease: Odontochondrodysplasia (Orphanet code 166272)
Associated genes:
Name: thyroid hormone receptor interactor 11
Symbol: TRIP11
Synonyms: lang: en
text: CEV14
lang: en
text: GMAP-210
lang: en
text: GMAP210
lang: en
text: Trip230
lang: en
text: golgi-microtubule-associated-protein of 210 kDa
GeneType: Name: gene with protein product
Rare disease: Mucolipidosis type II (Orphanet code 576)
Associated genes:
Name: N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
Symbol: GNPTAB
Synonyms: lang: en
text: KIAA1208
lang: en
text: MGC4170
GeneType: Name: gene with protein product
Rare disease: Sialidosis type 1 (Orphanet code 812)
Associated genes:
Name: neuraminidase 1
Symbol: NEU1
Synonyms: lang: en
text: sialidase-1
GeneType: Name: gene with protein product
Rare disease: Familial sick sinus syndrome (Orphanet code 166282)
Associated genes:
Name: sodium voltage-gated channel alpha subunit 5
Symbol: SCN5A
Synonyms: lang: en
text: CDCD2
lang: en
text: CMPD2
lang: en
text: HB1
lang: en
text: HB2
lang: en
text: HBBD
lang: en
text: HH1
lang: en
text: ICCD
lang: en
text: IVF
lang: en
text: LQT3
lang: en
text: Nav1.5
lang: en
text: PFHB1
lang: en
text: SSS1
lang: en
text: long QT syndrome 3
GeneType: Name: gene with protein product
Name: hyperpolarization activated cyclic nucleotide gated potassium channel 4
Symbol: HCN4
GeneType: Name: gene with protein product
Name: myosin heavy chain 6
Symbol: MYH6
Synonyms: lang: en
text: cardiomyopathy, hypertrophic 1
GeneType: Name: gene with protein product
Name: G protein subunit beta 2
Symbol: GNB2
Synonyms: lang: en
text: G protein, beta-2 subunit
lang: en
text: guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2
lang: en
text: signal-transducing guanine nucleotide-binding regulatory protein beta subunit
lang: en
text: transducin beta chain 2
GeneType: Name: gene with protein product
Rare disease: Mucolipidosis type IV (Orphanet code 578)
Associated genes:
Name: mucolipin TRP cation channel 1
Symbol: MCOLN1
Synonyms: lang: en
text: ML4
lang: en
text: MLIV
lang: en
text: MST080
lang: en
text: MSTP080
lang: en
text: TRPM-L1
lang: en
text: TRPML1
lang: en
text: mucolipidosis type IV
lang: en
text: transient receptor potential cation channel mucolipin subfamily member 1
lang: en
text: transient receptor potential mucolipin 1
GeneType: Name: gene with protein product
Rare disease: Porokeratotic eccrine ostial and dermal duct nevus (Orphanet code 166286)
Associated genes:
Name: gap junction protein beta 2
Symbol: GJB2
Synonyms: lang: en
text: CX26
lang: en
text: NSRD1
lang: en
text: connexin 26
GeneType: Name: gene with protein product
Rare disease: Recessive X-linked ichthyosis (Orphanet code 461)
Associated genes:
Name: filaggrin
Symbol: FLG
Synonyms: lang: en
text: FLG-1
lang: en
text: FLG1
GeneType: Name: gene with protein product
Name: steroid sulfatase
Symbol: STS
Synonyms: lang: en
text: ARSC
lang: en
text: arylsulfatase C
lang: en
text: steryl-sulfatase
GeneType: Name: gene with protein product
Rare disease: Mucopolysaccharidosis type 7 (Orphanet code 584)
Associated genes:
Name: glucuronidase beta
Symbol: GUSB
GeneType: Name: gene with protein product
Rare disease: Hot water reflex epilepsy (Orphanet code 166412)
Associated genes:
Name: solute carrier family 1 member 1
Symbol: SLC1A1
Synonyms: lang: en
text: EAAC1
lang: en
text: EAAT3
lang: en
text: Excitatory amino acid transporter 3
lang: en
text: excitatory amino acid carrier 1
lang: en
text: hEAAC1
GeneType: Name: gene with protein product
Rare disease: Friedreich ataxia (Orphanet code 95)
Associated genes:
Name: frataxin
Symbol: FXN
Synonyms: lang: en
text: CyaY
lang: en
text: FA
lang: en
text: FARR
lang: en
text: X25
GeneType: Name: gene with protein product
Rare disease: MELAS (Orphanet code 550)
Associated genes:
Name: mitochondrially encoded tRNA-Gln (CAA/G)
Symbol: MT-TQ
Synonyms: lang: en
text: trnQ
GeneType: Name: Non-coding RNA
Name: mitochondrially encoded cytochrome c oxidase I
Symbol: MT-CO1
Synonyms: lang: en
text: COI
lang: en
text: COX1
GeneType: Name: gene with protein product
Name: mitochondrially encoded cytochrome c oxidase II
Symbol: MT-CO2
Synonyms: lang: en
text: CO2
lang: en
text: COX2
GeneType: Name: gene with protein product
Name: mitochondrially encoded cytochrome c oxidase III
Symbol: MT-CO3
Synonyms: lang: en
text: CO3
lang: en
text: COIII
lang: en
text: COX3
GeneType: Name: gene with protein product
Name: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
Symbol: MT-ND1
Synonyms: lang: en
text: NAD1
lang: en
text: NADH-ubiquinone oxidoreductase chain 1
lang: en
text: ND1
lang: en
text: complex I ND1 subunit
GeneType: Name: gene with protein product
Name: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
Symbol: MT-ND4
Synonyms: lang: en
text: NAD4
lang: en
text: NADH-ubiquinone oxidoreductase chain 4
lang: en
text: ND4
lang: en
text: complex I ND4 subunit
GeneType: Name: gene with protein product
Name: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5
Symbol: MT-ND5
Synonyms: lang: en
text: NAD5
lang: en
text: NADH-ubiquinone oxidoreductase chain 5
lang: en
text: ND5
lang: en
text: complex I ND5 subunit
GeneType: Name: gene with protein product
Name: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
Symbol: MT-ND6
Synonyms: lang: en
text: NAD6
lang: en
text: NADH-ubiquinone oxidoreductase chain 6
lang: en
text: ND6
lang: en
text: complex I ND6 subunit
GeneType: Name: gene with protein product
Name: mitochondrially encoded tRNA-Leu (UUA/G) 1
Symbol: MT-TL1
Synonyms: lang: en
text: TRNL1
GeneType: Name: Non-coding RNA
Name: mitochondrially encoded tRNA-Trp (UGA/G)
Symbol: MT-TW
Synonyms: lang: en
text: trnW
GeneType: Name: Non-coding RNA
Name: mitochondrially encoded tRNA-His (CAU/C)
Symbol: MT-TH
Synonyms: lang: en
text: trnH
GeneType: Name: Non-coding RNA
Name: mitochondrially encoded tRNA-Ser (UCN) 1
Symbol: MT-TS1
Synonyms: lang: en
text: TRNS1
GeneType: Name: Non-coding RNA
Name: mitochondrially encoded tRNA-Ser (AGU/C) 2
Symbol: MT-TS2
Synonyms: lang: en
text: RP8
lang: en
text: TRNS2
GeneType: Name: Non-coding RNA
Name: mitochondrially encoded tRNA-Phe (UUU/C)
Symbol: MT-TF
Synonyms: lang: en
text: trnF
GeneType: Name: Non-coding RNA
Rare disease: Facioscapulohumeral dystrophy (Orphanet code 269)
Associated genes:
Name: DNA methyltransferase 3 beta
Symbol: DNMT3B
GeneType: Name: gene with protein product
Name: double homeobox 4
Symbol: DUX4
GeneType: Name: gene with protein product
Name: double homeobox 4 like 1 (pseudogene)
Symbol: DUX4L1
GeneType: Name: Non-coding RNA
Name: FSHD region gene 1
Symbol: FRG1
Synonyms: lang: en
text: FRG1A
lang: en
text: FSG1
GeneType: Name: gene with protein product
Name: structural maintenance of chromosomes flexible hinge domain containing 1
Symbol: SMCHD1
Synonyms: lang: en
text: FSHD2
lang: en
text: KIAA0650
GeneType: Name: gene with protein product
Name: structural maintenance of chromosomes flexible hinge domain containing 1
Symbol: SMCHD1
Synonyms: lang: en
text: FSHD2
lang: en
text: KIAA0650
GeneType: Name: gene with protein product
Rare disease: Kearns-Sayre syndrome (Orphanet code 480)
Associated genes:
Name: mitochondrially encoded ATP synthase membrane subunit 8
Symbol: MT-ATP8
Synonyms: lang: en
text: A6L
lang: en
text: ATP8
lang: en
text: URFA6L
lang: en
text: mitochondrially encoded ATP synthase membrane subunit A6L
GeneType: Name: gene with protein product
Name: ribonucleotide reductase regulatory TP53 inducible subunit M2B
Symbol: RRM2B
Synonyms: lang: en
text: p53R2
GeneType: Name: gene with protein product
Name: mitochondrially encoded tRNA-Leu (UUA/G) 1
Symbol: MT-TL1
Synonyms: lang: en
text: TRNL1
GeneType: Name: Non-coding RNA
Rare disease: MERRF (Orphanet code 551)
Associated genes:
Name: mitochondrially encoded tRNA-Pro (CCN)
Symbol: MT-TP
Synonyms: lang: en
text: trnP
GeneType: Name: Non-coding RNA
Name: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5
Symbol: MT-ND5
Synonyms: lang: en
text: NAD5
lang: en
text: NADH-ubiquinone oxidoreductase chain 5
lang: en
text: ND5
lang: en
text: complex I ND5 subunit
GeneType: Name: gene with protein product
Name: mitochondrially encoded tRNA-Leu (UUA/G) 1
Symbol: MT-TL1
Synonyms: lang: en
text: TRNL1
GeneType: Name: Non-coding RNA
Name: mitochondrially encoded tRNA-Lys (AAA/G)
Symbol: MT-TK
Synonyms: lang: en
text: trnK
GeneType: Name: Non-coding RNA
Name: mitochondrially encoded 12S rRNA
Symbol: MT-RNR1
Synonyms: lang: en
text: 12S
lang: en
text: MOTS-c
lang: en
text: mitochondrial open-reading-frame of the twelve S rRNA type-c
lang: en
text: mitochondrially encoded 12S ribosomal RNA
GeneType: Name: Non-coding RNA
Name: mitochondrially encoded tRNA-Gln (CAA/G)
Symbol: MT-TQ
Synonyms: lang: en
text: trnQ
GeneType: Name: Non-coding RNA
Name: mitochondrially encoded tRNA-His (CAU/C)
Symbol: MT-TH
Synonyms: lang: en
text: trnH
GeneType: Name: Non-coding RNA
Name: mitochondrially encoded tRNA-Ser (UCN) 1
Symbol: MT-TS1
Synonyms: lang: en
text: TRNS1
GeneType: Name: Non-coding RNA
Name: mitochondrially encoded tRNA-Ser (AGU/C) 2
Symbol: MT-TS2
Synonyms: lang: en
text: RP8
lang: en
text: TRNS2
GeneType: Name: Non-coding RNA
Name: mitochondrially encoded tRNA-Phe (UUU/C)
Symbol: MT-TF
Synonyms: lang: en
text: trnF
GeneType: Name: Non-coding RNA
Rare disease: Central core disease (Orphanet code 597)
Associated genes:
Name: ryanodine receptor 1
Symbol: RYR1
Synonyms: lang: en
text: PPP1R137
lang: en
text: RYR
lang: en
text: protein phosphatase 1, regulatory subunit 137
GeneType: Name: gene with protein product
Rare disease: Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (Orphanet code 163746)
Associated genes:
Name: SRY-box transcription factor 10
Symbol: SOX10
Synonyms: lang: en
text: DOM
lang: en
text: SOX-10
lang: en
text: WS2E
lang: en
text: WS4
lang: en
text: dominant megacolon, mouse, human homolog of
GeneType: Name: gene with protein product
Rare disease: Paramyotonia congenita of Von Eulenburg (Orphanet code 684)
Associated genes:
Name: sodium voltage-gated channel alpha subunit 4
Symbol: SCN4A
Synonyms: lang: en
text: HYPP
lang: en
text: Nav1.4
lang: en
text: SkM1
GeneType: Name: gene with protein product
Rare disease: Acrodermatitis continua of Hallopeau (Orphanet code 163931)
Associated genes:
Name: interleukin 36 receptor antagonist
Symbol: IL36RN
Synonyms: lang: en
text: FIL1
lang: en
text: FIL1(DELTA)
lang: en
text: FIL1D
lang: en
text: IL-1 related protein 3
lang: en
text: IL-1F5
lang: en
text: IL1HY1
lang: en
text: IL1L1
lang: en
text: IL1RP3
lang: en
text: IL36RA
lang: en
text: MGC29840
lang: en
text: family of interleukin 1-delta
lang: en
text: interleukin-1 HY1
lang: en
text: interleukin-1 receptor antagonist homolog 1
GeneType: Name: gene with protein product
Name: adaptor related protein complex 1 subunit sigma 3
Symbol: AP1S3
Synonyms: lang: en
text: AP-1 complex subunit sigma 3
lang: en
text: sigma1C
GeneType: Name: gene with protein product
Rare disease: Pustulosis palmaris et plantaris (Orphanet code 163927)
Associated genes:
Name: interleukin 36 receptor antagonist
Symbol: IL36RN
Synonyms: lang: en
text: FIL1
lang: en
text: FIL1(DELTA)
lang: en
text: FIL1D
lang: en
text: IL-1 related protein 3
lang: en
text: IL-1F5
lang: en
text: IL1HY1
lang: en
text: IL1L1
lang: en
text: IL1RP3
lang: en
text: IL36RA
lang: en
text: MGC29840
lang: en
text: family of interleukin 1-delta
lang: en
text: interleukin-1 HY1
lang: en
text: interleukin-1 receptor antagonist homolog 1
GeneType: Name: gene with protein product
Name: adaptor related protein complex 1 subunit sigma 3
Symbol: AP1S3
Synonyms: lang: en
text: AP-1 complex subunit sigma 3
lang: en
text: sigma1C
GeneType: Name: gene with protein product
Rare disease: X-linked intellectual disability, Najm type (Orphanet code 163937)
Associated genes:
Name: calcium/calmodulin dependent serine protein kinase
Symbol: CASK
Synonyms: lang: en
text: CAGH39
lang: en
text: FGS4
lang: en
text: LIN2
GeneType: Name: gene with protein product
Rare disease: Thomsen and Becker disease (Orphanet code 614)
Associated genes:
Name: chloride voltage-gated channel 1
Symbol: CLCN1
Synonyms: lang: en
text: CLC1
lang: en
text: ClC-1
lang: en
text: Thomsen disease, autosomal dominant
GeneType: Name: gene with protein product
Rare disease: X-linked dominant chondrodysplasia, Chassaing-Lacombe type (Orphanet code 163966)
Associated genes:
Name: histone deacetylase 6
Symbol: HDAC6
Synonyms: lang: en
text: FLJ16239
lang: en
text: HD6
lang: en
text: JM21
lang: en
text: KDAC6
lang: en
text: KIAA0901
lang: en
text: PPP1R90
lang: en
text: alpha-tubulin deacetylase HDAC6
lang: en
text: protein phosphatase 1, regulatory subunit 90
GeneType: Name: gene with protein product
Rare disease: X-linked intellectual disability, Van Esch type (Orphanet code 163976)
Associated genes:
Name: DNA polymerase alpha 1, catalytic subunit
Symbol: POLA1
Synonyms: lang: en
text: p180
GeneType: Name: gene with protein product
Rare disease: X-linked intellectual disability, Nascimento type (Orphanet code 163956)
Associated genes:
Name: ubiquitin conjugating enzyme E2 A
Symbol: UBE2A
Synonyms: lang: en
text: HHR6A
lang: en
text: HR6A
lang: en
text: RAD6A
lang: en
text: UBC2
GeneType: Name: gene with protein product
Rare disease: Fabry disease (Orphanet code 324)
Associated genes:
Name: galactosidase alpha
Symbol: GLA
Synonyms: lang: en
text: GALA
GeneType: Name: gene with protein product
Rare disease: Hyperekplexia-epilepsy syndrome (Orphanet code 163985)
Associated genes:
Name: Cdc42 guanine nucleotide exchange factor 9
Symbol: ARHGEF9
Synonyms: lang: en
text: KIAA0424
lang: en
text: PEM-2
lang: en
text: collybistin
GeneType: Name: gene with protein product
Rare disease: Rett syndrome (Orphanet code 778)
Associated genes:
Name: methyl-CpG binding protein 2
Symbol: MECP2
GeneType: Name: gene with protein product
Rare disease: Juvenile myoclonic epilepsy (Orphanet code 307)
Associated genes:
Name: ciliogenesis associated kinase 1
Symbol: CILK1
Synonyms: lang: en
text: KIAA0936
lang: en
text: LCK2
lang: en
text: MAK-related kinase
lang: en
text: MGC46090
lang: en
text: MRK
lang: en
text: serine/threonine-protein kinase ICK
GeneType: Name: gene with protein product
Name: calcium voltage-gated channel auxiliary subunit beta 4
Symbol: CACNB4
Synonyms: lang: en
text: EJM4
GeneType: Name: gene with protein product
Name: EF-hand domain containing 1
Symbol: EFHC1
Synonyms: lang: en
text: FLJ10466
lang: en
text: POC9
lang: en
text: RIB72
lang: en
text: myoclonin-1
GeneType: Name: gene with protein product
Name: gamma-aminobutyric acid type A receptor subunit alpha1
Symbol: GABRA1
Synonyms: lang: en
text: EJM5
lang: en
text: GABA(A) receptor, alpha 1
GeneType: Name: gene with protein product
Name: gamma-aminobutyric acid type A receptor subunit delta
Symbol: GABRD
Synonyms: lang: en
text: GABA(A) receptor, delta
lang: en
text: GABAARdelta
GeneType: Name: gene with protein product
Name: potassium voltage-gated channel subfamily Q member 3
Symbol: KCNQ3
Synonyms: lang: en
text: Kv7.3
GeneType: Name: gene with protein product
Name: Jrk helix-turn-helix protein
Symbol: JRK
Synonyms: lang: en
text: JH8
lang: en
text: jerky
GeneType: Name: gene with protein product
Name: chloride voltage-gated channel 2
Symbol: CLCN2
Synonyms: lang: en
text: CLC2
lang: en
text: ClC-2
lang: en
text: EJM6
GeneType: Name: gene with protein product
Rare disease: Juvenile absence epilepsy (Orphanet code 1941)
Associated genes:
Name: EF-hand domain containing 1
Symbol: EFHC1
Synonyms: lang: en
text: FLJ10466
lang: en
text: POC9
lang: en
text: RIB72
lang: en
text: myoclonin-1
GeneType: Name: gene with protein product
Rare disease: Von Hippel-Lindau disease (Orphanet code 892)
Associated genes:
Name: cyclin D1
Symbol: CCND1
Synonyms: lang: en
text: B-cell CLL/lymphoma 1
lang: en
text: G1/S-specific cyclin D1
lang: en
text: U21B31
lang: en
text: parathyroid adenomatosis 1
GeneType: Name: gene with protein product
Name: von Hippel-Lindau tumor suppressor
Symbol: VHL
Synonyms: lang: en
text: VHL1
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive polycystic kidney disease (Orphanet code 731)
Associated genes:
Name: DAZ interacting zinc finger protein 1 like
Symbol: DZIP1L
Synonyms: lang: en
text: DZIP2
lang: en
text: FLJ32844
GeneType: Name: gene with protein product
Name: PKHD1 ciliary IPT domain containing fibrocystin/polyductin
Symbol: PKHD1
Synonyms: lang: en
text: ARPKD
lang: en
text: FCYT
lang: en
text: FPC
lang: en
text: fibrocystin
lang: en
text: fibrocystin/polyductin complex
lang: en
text: polyductin
lang: en
text: tigmin
GeneType: Name: gene with protein product
Rare disease: Familial advanced sleep-phase syndrome (Orphanet code 164736)
Associated genes:
Name: period circadian regulator 3
Symbol: PER3
GeneType: Name: gene with protein product
Name: casein kinase 1 delta
Symbol: CSNK1D
Synonyms: lang: en
text: CKID
lang: en
text: CKIdelta
lang: en
text: HCKID
GeneType: Name: gene with protein product
Name: period circadian regulator 2
Symbol: PER2
Synonyms: lang: en
text: KIAA0347
GeneType: Name: gene with protein product