TaoMedAI/RareMedData huggingface dataset:
Rare disease: Rh deficiency syndrome (Orphanet code 71275)
Associated genes:
Name: Rh blood group CcEe antigens
Symbol: RHCE
Synonyms: lang: en
text: CD240CE
lang: en
text: SLC42A4
GeneType: Name: gene with protein product
Name: Rh blood group D antigen
Symbol: RHD
Synonyms: lang: en
text: CD240D
lang: en
text: DIIIc
lang: en
text: Rh30a
lang: en
text: Rh4
lang: en
text: RhII
lang: en
text: RhPI
lang: en
text: SLC42A5
GeneType: Name: gene with protein product
Name: Rh associated glycoprotein
Symbol: RHAG
Synonyms: lang: en
text: Ammonium transporter Rh type A
lang: en
text: CD241
lang: en
text: RH50A
lang: en
text: SLC42A1
GeneType: Name: gene with protein product
Rare disease: Classic glucose transporter type 1 deficiency syndrome (Orphanet code 71277)
Associated genes:
Name: solute carrier family 2 member 1
Symbol: SLC2A1
Synonyms: lang: en
text: DYT18
lang: en
text: DYT9
lang: en
text: GLUT-1
lang: en
text: dystonia gene 18
lang: en
text: dystonia gene 9
GeneType: Name: gene with protein product
Rare disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency (Orphanet code 71212)
Associated genes:
Name: hydroxyacyl-CoA dehydrogenase
Symbol: HADH
Synonyms: lang: en
text: HADH1
lang: en
text: SCHAD
GeneType: Name: gene with protein product
Rare disease: Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency (Orphanet code 70592)
Associated genes:
Name: interleukin 1 receptor associated kinase 4
Symbol: IRAK4
Synonyms: lang: en
text: NY-REN-64
GeneType: Name: gene with protein product
Rare disease: Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (Orphanet code 70595)
Associated genes:
Name: DNA polymerase gamma, catalytic subunit
Symbol: POLG
Synonyms: lang: en
text: POLG1
lang: en
text: POLGA
GeneType: Name: gene with protein product
Name: twinkle mtDNA helicase
Symbol: TWNK
Synonyms: lang: en
text: FLJ21832
lang: en
text: PEO
lang: en
text: PEO1
lang: en
text: T7 helicase-related protein with intramitochondrial nucleoid localization
lang: en
text: TWINKLE
lang: en
text: TWINL
GeneType: Name: gene with protein product
Rare disease: Dopa-responsive dystonia due to sepiapterin reductase deficiency (Orphanet code 70594)
Associated genes:
Name: sepiapterin reductase
Symbol: SPR
Synonyms: lang: en
text: SDR38C1
lang: en
text: Sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming)
lang: en
text: short chain dehydrogenase/reductase family 38C, member 1
GeneType: Name: gene with protein product
Rare disease: Small cell lung cancer (Orphanet code 70573)
Associated genes:
Name: RB transcriptional corepressor 1
Symbol: RB1
Synonyms: lang: en
text: PPP1R130
lang: en
text: RB
lang: en
text: prepro-retinoblastoma-associated protein
lang: en
text: protein phosphatase 1, regulatory subunit 130
GeneType: Name: gene with protein product
Name: tumor protein p53
Symbol: TP53
Synonyms: lang: en
text: LFS1
lang: en
text: Li-Fraumeni syndrome
lang: en
text: P53
lang: en
text: p53
GeneType: Name: gene with protein product
Name: tumor protein p73
Symbol: TP73
Synonyms: lang: en
text: P73
GeneType: Name: gene with protein product
Rare disease: Infant acute respiratory distress syndrome (Orphanet code 70587)
Associated genes:
Name: surfactant protein B
Symbol: SFTPB
Synonyms: lang: en
text: SP-B
GeneType: Name: gene with protein product
Name: surfactant protein C
Symbol: SFTPC
Synonyms: lang: en
text: BRICD6
lang: en
text: BRICHOS domain containing 6
lang: en
text: PSP-C
lang: en
text: SMDP2
lang: en
text: SP-C
GeneType: Name: gene with protein product
Name: ATP binding cassette subfamily A member 3
Symbol: ABCA3
Synonyms: lang: en
text: ABC-C
lang: en
text: EST111653
lang: en
text: LBM180
GeneType: Name: gene with protein product
Rare disease: Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type (Orphanet code 70472)
Associated genes:
Name: leucine rich pentatricopeptide repeat containing
Symbol: LRPPRC
Synonyms: lang: en
text: GP130
lang: en
text: LRP130
GeneType: Name: gene with protein product
Rare disease: Cholangiocarcinoma (Orphanet code 70567)
Associated genes:
Name: BRCA1 DNA repair associated
Symbol: BRCA1
Synonyms: lang: en
text: BRCA1/BRCA2-containing complex, subunit 1
lang: en
text: BRCC1
lang: en
text: FANCS
lang: en
text: Fanconi anemia, complementation group S
lang: en
text: PPP1R53
lang: en
text: RNF53
lang: en
text: protein phosphatase 1, regulatory subunit 53
GeneType: Name: gene with protein product
Name: BRCA2 DNA repair associated
Symbol: BRCA2
Synonyms: lang: en
text: BRCA1/BRCA2-containing complex, subunit 2
lang: en
text: BRCC2
lang: en
text: FAD
lang: en
text: FAD1
lang: en
text: XRCC11
GeneType: Name: gene with protein product
Name: ROS proto-oncogene 1, receptor tyrosine kinase
Symbol: ROS1
GeneType: Name: gene with protein product
Name: protein tyrosine phosphatase non-receptor type 3
Symbol: PTPN3
Synonyms: lang: en
text: PTPH1
GeneType: Name: gene with protein product
Rare disease: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (Orphanet code 69735)
Associated genes:
Name: SRY-box transcription factor 18
Symbol: SOX18
GeneType: Name: gene with protein product
Rare disease: Bosley-Salih-Alorainy syndrome (Orphanet code 69737)
Associated genes:
Name: homeobox A1
Symbol: HOXA1
GeneType: Name: gene with protein product
Rare disease: Athabaskan brainstem dysgenesis syndrome (Orphanet code 69739)
Associated genes:
Name: homeobox A1
Symbol: HOXA1
GeneType: Name: gene with protein product
Rare disease: Low phospholipid-associated cholelithiasis (Orphanet code 69663)
Associated genes:
Name: ATP binding cassette subfamily B member 4
Symbol: ABCB4
Synonyms: lang: en
text: GBD1
lang: en
text: MDR2
lang: en
text: PFIC-3
GeneType: Name: gene with protein product
Rare disease: Intrahepatic cholestasis of pregnancy (Orphanet code 69665)
Associated genes:
Name: nuclear receptor subfamily 1 group H member 4
Symbol: NR1H4
Synonyms: lang: en
text: FXR
lang: en
text: HRR-1
lang: en
text: HRR1
lang: en
text: RIP14
lang: en
text: bile acid receptor
lang: en
text: farnesoid X receptor
GeneType: Name: gene with protein product
Name: ATP binding cassette subfamily B member 11
Symbol: ABCB11
Synonyms: lang: en
text: ABC member 16, MDR/TAP subfamily
lang: en
text: ABC16
lang: en
text: PFIC-2
lang: en
text: PGY4
lang: en
text: SPGP
GeneType: Name: gene with protein product
Name: ATP binding cassette subfamily B member 4
Symbol: ABCB4
Synonyms: lang: en
text: GBD1
lang: en
text: MDR2
lang: en
text: PFIC-3
GeneType: Name: gene with protein product
Name: ATPase phospholipid transporting 8B1
Symbol: ATP8B1
Synonyms: lang: en
text: ATPIC
lang: en
text: PFIC
GeneType: Name: gene with protein product
Rare disease: Tyrosinemia type 3 (Orphanet code 69723)
Associated genes:
Name: 4-hydroxyphenylpyruvate dioxygenase
Symbol: HPD
Synonyms: lang: en
text: 4-HPPD
lang: en
text: 4HPPD
lang: en
text: GLOD3
lang: en
text: HPPD
lang: en
text: glyoxalase domain containing 3
GeneType: Name: gene with protein product
Rare disease: PAPA syndrome (Orphanet code 69126)
Associated genes:
Name: proline-serine-threonine phosphatase interacting protein 1
Symbol: PSTPIP1
Synonyms: lang: en
text: CD2 antigen-binding protein 1
lang: en
text: CD2 cytoplasmic tail-binding protein
lang: en
text: CD2BP1
lang: en
text: CD2BP1L
lang: en
text: CD2BP1S
lang: en
text: H-PIP
lang: en
text: PAPAS
lang: en
text: PEST phosphatase-interacting protein 1
lang: en
text: PSTPIP
GeneType: Name: gene with protein product
Rare disease: Naegeli-Franceschetti-Jadassohn syndrome (Orphanet code 69087)
Associated genes:
Name: keratin 14
Symbol: KRT14
Synonyms: lang: en
text: epidermolysis bullosa simplex, Dowling-Meara, Koebner
GeneType: Name: gene with protein product
Rare disease: Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome (Orphanet code 69088)
Associated genes:
Name: inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
Symbol: IKBKG
Synonyms: lang: en
text: 14.7K (adenovirus E3 protein) interacting protein 3
lang: en
text: FIP-3
lang: en
text: FIP3
lang: en
text: Fip3p
lang: en
text: I-kappa-B kinase subunit gamma
lang: en
text: IKK-gamma
lang: en
text: IKKAP1
lang: en
text: IKKG
lang: en
text: IkB kinase subunit gamma
lang: en
text: IkB kinase-associated protein 1
lang: en
text: NEMO
lang: en
text: NF-kappa-B essential modulator
lang: en
text: ZC2HC9
GeneType: Name: gene with protein product
Rare disease: Limb-mammary syndrome (Orphanet code 69085)
Associated genes:
Name: tumor protein p63
Symbol: TP63
Synonyms: lang: en
text: EEC3
lang: en
text: KET
lang: en
text: NBP
lang: en
text: OFC8
lang: en
text: SHFM4
lang: en
text: p40
lang: en
text: p51
lang: en
text: p53CP
lang: en
text: p63
lang: en
text: p73H
lang: en
text: p73L
GeneType: Name: gene with protein product
Rare disease: Pure hair and nail ectodermal dysplasia (Orphanet code 69084)
Associated genes:
Name: keratin 85
Symbol: KRT85
Synonyms: lang: en
text: Hb-5
lang: en
text: hard keratin type II
GeneType: Name: gene with protein product
Name: keratin 74
Symbol: KRT74
Synonyms: lang: en
text: K6IRS4
lang: en
text: KRT5C
lang: en
text: KRT6IRS4
GeneType: Name: gene with protein product
Name: homeobox C13
Symbol: HOXC13
GeneType: Name: gene with protein product
Rare disease: Familial renal glucosuria (Orphanet code 69076)
Associated genes:
Name: solute carrier family 5 member 2
Symbol: SLC5A2
GeneType: Name: gene with protein product
Rare disease: Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization (Orphanet code 69063)
Associated genes:
Name: membrane metalloendopeptidase
Symbol: MME
Synonyms: lang: en
text: CALLA
lang: en
text: CD10
lang: en
text: NEP
lang: en
text: enkephalinase
lang: en
text: neprilysin
lang: en
text: neutral endopeptidase
GeneType: Name: gene with protein product
Rare disease: 3-methylglutaconic aciduria type 1 (Orphanet code 67046)
Associated genes:
Name: AU RNA binding methylglutaconyl-CoA hydratase
Symbol: AUH
GeneType: Name: gene with protein product
Rare disease: 3-methylglutaconic aciduria type 3 (Orphanet code 67047)
Associated genes:
Name: mitochondrial contact site and cristae organizing system subunit 13
Symbol: MICOS13
Synonyms: lang: en
text: MIC12
lang: en
text: MIC13
lang: en
text: P117
lang: en
text: QIL1
GeneType: Name: gene with protein product
Name: outer mitochondrial membrane lipid metabolism regulator OPA3
Symbol: OPA3
Synonyms: lang: en
text: 3-methylglutaconic aciduria type III
lang: en
text: FLJ22187
lang: en
text: MGA3
GeneType: Name: gene with protein product
Rare disease: Thrombocytopenia with congenital dyserythropoietic anemia (Orphanet code 67044)
Associated genes:
Name: GATA binding protein 1
Symbol: GATA1
Synonyms: lang: en
text: ERYF1
lang: en
text: GATA-1
lang: en
text: NF-E1
lang: en
text: NFE1
lang: en
text: nuclear factor, erythroid 1
GeneType: Name: gene with protein product
Rare disease: X-linked intellectual disability with isolated growth hormone deficiency (Orphanet code 67045)
Associated genes:
Name: SRY-box transcription factor 3
Symbol: SOX3
GeneType: Name: gene with protein product
Rare disease: Late-onset retinal degeneration (Orphanet code 67042)
Associated genes:
Name: C1q and TNF related 5
Symbol: C1QTNF5
Synonyms: lang: en
text: CTRP5
lang: en
text: DKFZp586B0621
lang: en
text: LORD
lang: en
text: complement-c1q tumor necrosis factor-related protein 5
lang: en
text: myonectin
GeneType: Name: gene with protein product
Rare disease: Hyaluronidase deficiency (Orphanet code 67041)
Associated genes:
Name: hyaluronidase 1
Symbol: HYAL1
Synonyms: lang: en
text: FUS2
lang: en
text: HYAL-1
lang: en
text: LUCA1
lang: en
text: NAT6
GeneType: Name: gene with protein product
Rare disease: B-cell chronic lymphocytic leukemia (Orphanet code 67038)
Associated genes:
Name: purinergic receptor P2X 7
Symbol: P2RX7
Synonyms: lang: en
text: MGC20089
lang: en
text: P2X7
GeneType: Name: gene with protein product
Name: immunoglobulin heavy variable 3-21
Symbol: IGHV3-21
GeneType: Name: gene with protein product
Name: ATM serine/threonine kinase
Symbol: ATM
Synonyms: lang: en
text: TEL1
lang: en
text: TEL1, telomere maintenance 1, homolog (S. cerevisiae)
lang: en
text: TELO1
GeneType: Name: gene with protein product
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: tumor protein p53
Symbol: TP53
Synonyms: lang: en
text: LFS1
lang: en
text: Li-Fraumeni syndrome
lang: en
text: P53
lang: en
text: p53
GeneType: Name: gene with protein product
Name: ADP ribosylation factor like GTPase 11
Symbol: ARL11
Synonyms: lang: en
text: ADP-ribosylation factor-like tumor suppressor gene 1
lang: en
text: ARLTS1
lang: en
text: FLJ33930
GeneType: Name: gene with protein product
Name: immunoglobulin heavy constant gamma 1 (G1m marker)
Symbol: IGHG1
GeneType: Name: gene with protein product
Name: protection of telomeres 1
Symbol: POT1
Synonyms: lang: en
text: DKFZp586D211
lang: en
text: hPot1
GeneType: Name: gene with protein product
Name: ribosomal protein S15
Symbol: RPS15
Synonyms: lang: en
text: 40S ribosomal protein S15
lang: en
text: MGC111130
lang: en
text: RIG
lang: en
text: S15
lang: en
text: homolog of rat insulinoma
lang: en
text: insulinoma protein
lang: en
text: uS19
GeneType: Name: gene with protein product
Name: IKAROS family zinc finger 3
Symbol: IKZF3
Synonyms: lang: en
text: Aiolos
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant optic atrophy and cataract (Orphanet code 67036)
Associated genes:
Name: outer mitochondrial membrane lipid metabolism regulator OPA3
Symbol: OPA3
Synonyms: lang: en
text: 3-methylglutaconic aciduria type III
lang: en
text: FLJ22187
lang: en
text: MGA3
GeneType: Name: gene with protein product
Rare disease: Diaphanospondylodysostosis (Orphanet code 66637)
Associated genes:
Name: BMP binding endothelial regulator
Symbol: BMPER
Synonyms: lang: en
text: CRIM3
lang: en
text: Cv2
lang: en
text: crossveinless-2
GeneType: Name: gene with protein product
Rare disease: Dilated cardiomyopathy with ataxia (Orphanet code 66634)
Associated genes:
Name: DnaJ heat shock protein family (Hsp40) member C19
Symbol: DNAJC19
Synonyms: lang: en
text: Pam18
lang: en
text: TIMM14
lang: en
text: Tim14
lang: en
text: mitochondrial import inner membrane translocase subunit TIM14
GeneType: Name: gene with protein product
Rare disease: CEDNIK syndrome (Orphanet code 66631)
Associated genes:
Name: synaptosome associated protein 29
Symbol: SNAP29
Synonyms: lang: en
text: CEDNIK
lang: en
text: SNAP-29
lang: en
text: cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome
lang: en
text: soluble 29 kDa NSF attachment protein
GeneType: Name: gene with protein product
Rare disease: Goldberg-Shprintzen megacolon syndrome (Orphanet code 66629)
Associated genes:
Name: kinesin family binding protein
Symbol: KIFBP
Synonyms: lang: en
text: DKFZP586B0923
lang: en
text: KBP
lang: en
text: TTC20
lang: en
text: kinesin binding protein
GeneType: Name: gene with protein product
Rare disease: Obesity due to congenital leptin deficiency (Orphanet code 66628)
Associated genes:
Name: leptin
Symbol: LEP
GeneType: Name: gene with protein product
Rare disease: Carvajal syndrome (Orphanet code 65282)
Associated genes:
Name: desmoplakin
Symbol: DSP
Synonyms: lang: en
text: DPI
lang: en
text: DPII
lang: en
text: KPPS2
lang: en
text: PPKS2
GeneType: Name: gene with protein product
Rare disease: Lhermitte-Duclos disease (Orphanet code 65285)
Associated genes:
Name: phosphatase and tensin homolog
Symbol: PTEN
Synonyms: lang: en
text: MMAC1
lang: en
text: PTEN1
lang: en
text: Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN
lang: en
text: TEP1
lang: en
text: mutated in multiple advanced cancers 1
GeneType: Name: gene with protein product
Rare disease: Biotin-thiamine-responsive basal ganglia disease (Orphanet code 65284)
Associated genes:
Name: solute carrier family 19 member 3
Symbol: SLC19A3
Synonyms: lang: en
text: THTR2
lang: en
text: hTHTR2
lang: en
text: thTr-2
lang: en
text: thiamine transporter 2
GeneType: Name: gene with protein product
Rare disease: Beta-ureidopropionase deficiency (Orphanet code 65287)
Associated genes:
Name: beta-ureidopropionase 1
Symbol: UPB1
Synonyms: lang: en
text: BUP1
GeneType: Name: gene with protein product
Rare disease: Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome (Orphanet code 65288)
Associated genes:
Name: pancreas associated transcription factor 1a
Symbol: PTF1A
Synonyms: lang: en
text: PTF1-p48
lang: en
text: bHLHa29
lang: en
text: p48
GeneType: Name: gene with protein product
Rare disease: Monomelic amyotrophy (Orphanet code 65684)
Associated genes:
Name: ciliogenesis and planar polarity effector complex subunit 1
Symbol: CPLANE1
Synonyms: lang: en
text: FLJ13231
lang: en
text: Heart Under Glass
lang: en
text: Hug
lang: en
text: JBTS17
GeneType: Name: gene with protein product
Name: centrosomal protein 126
Symbol: CEP126
GeneType: Name: gene with protein product
Rare disease: Multiple self-healing squamous epithelioma (Orphanet code 65748)
Associated genes:
Name: transforming growth factor beta receptor 1
Symbol: TGFBR1
Synonyms: lang: en
text: ACVRLK4
lang: en
text: ALK-5
lang: en
text: ALK5
lang: en
text: TBR-i
lang: en
text: TBRI
lang: en
text: activin A receptor type II-like kinase, 53kDa
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant multiple pterygium syndrome (Orphanet code 65743)
Associated genes:
Name: myosin heavy chain 3
Symbol: MYH3
Synonyms: lang: en
text: HEMHC
lang: en
text: MYHC-EMB
lang: en
text: MYHSE1
lang: en
text: SMHCE
lang: en
text: muscle embryonic myosin heavy chain 3
lang: en
text: myosin, skeletal, heavy chain, embryonic 1
GeneType: Name: gene with protein product
Rare disease: Carpenter syndrome (Orphanet code 65759)
Associated genes:
Name: multiple EGF like domains 8
Symbol: MEGF8
Synonyms: lang: en
text: FLJ22365
lang: en
text: HBV pre s2 binding protein 1
lang: en
text: SBP1
GeneType: Name: gene with protein product
Name: RAB23, member RAS oncogene family
Symbol: RAB23
GeneType: Name: gene with protein product
Rare disease: Dejerine-Sottas syndrome (Orphanet code 64748)
Associated genes:
Name: peripheral myelin protein 22
Symbol: PMP22
Synonyms: lang: en
text: GAS3
lang: en
text: HMSNIA
lang: en
text: HNPP
lang: en
text: Sp110
GeneType: Name: gene with protein product
Name: periaxin
Symbol: PRX
Synonyms: lang: en
text: KIAA1620
GeneType: Name: gene with protein product
Name: early growth response 2
Symbol: EGR2
Synonyms: lang: en
text: Krox-20 homolog, Drosophila
GeneType: Name: gene with protein product
Name: myelin protein zero
Symbol: MPZ
Synonyms: lang: en
text: CMT2I
lang: en
text: CMT2J
lang: en
text: HMSNIB
lang: en
text: P0
GeneType: Name: gene with protein product
Rare disease: Hereditary motor and sensory neuropathy type 5 (Orphanet code 64751)
Associated genes:
Name: mitofusin 2
Symbol: MFN2
Synonyms: lang: en
text: CMT2A2
lang: en
text: CPRP1
lang: en
text: KIAA0214
lang: en
text: MARF
GeneType: Name: gene with protein product
Rare disease: Heme oxygenase-1 deficiency (Orphanet code 562509)
Associated genes:
Name: heme oxygenase 1
Symbol: HMOX1
Synonyms: lang: en
text: HO-1
lang: en
text: bK286B10
GeneType: Name: gene with protein product
Rare disease: Hereditary sensory and autonomic neuropathy type 5 (Orphanet code 64752)
Associated genes:
Name: neurotrophic receptor tyrosine kinase 1
Symbol: NTRK1
Synonyms: lang: en
text: MTC
lang: en
text: TRK
lang: en
text: TRKA
lang: en
text: high affinity nerve growth factor receptor
lang: en
text: tropomyosin receptor kinase A
GeneType: Name: gene with protein product
Name: nerve growth factor
Symbol: NGF
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia with axonal neuropathy type 2 (Orphanet code 64753)
Associated genes:
Name: senataxin
Symbol: SETX
Synonyms: lang: en
text: AOA2
lang: en
text: KIAA0625
lang: en
text: STEX
lang: en
text: Sen1
GeneType: Name: gene with protein product
Name: phosphoinositide-3-kinase regulatory subunit 5
Symbol: PIK3R5
Synonyms: lang: en
text: P101-PI3K
lang: en
text: p101
GeneType: Name: gene with protein product
Rare disease: Nevus comedonicus syndrome (Orphanet code 64754)
Associated genes:
Name: NIMA related kinase 9
Symbol: NEK9
Synonyms: lang: en
text: DKFZp434D0935
lang: en
text: MGC16714
lang: en
text: NERCC
lang: en
text: NERCC1
lang: en
text: Nek8
GeneType: Name: gene with protein product
Rare disease: Congenital limbs-face contractures-hypotonia-developmental delay syndrome (Orphanet code 562528)
Associated genes:
Name: sodium leak channel, non-selective
Symbol: NALCN
Synonyms: lang: en
text: CanIon
lang: en
text: bA430M15.1
GeneType: Name: gene with protein product
Rare disease: Becker nevus syndrome (Orphanet code 64755)
Associated genes:
Name: actin beta
Symbol: ACTB
Synonyms: lang: en
text: ß-actin
GeneType: Name: gene with protein product
Rare disease: Anterior maxillary protrusion-strabismus-intellectual disability syndrome (Orphanet code 562559)
Associated genes:
Name: sine oculis binding protein homolog
Symbol: SOBP
Synonyms: lang: en
text: FLJ10159
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive extra-oral halitosis (Orphanet code 562538)
Associated genes:
Name: selenium binding protein 1
Symbol: SELENBP1
Synonyms: lang: en
text: LPSB
lang: en
text: hSBP
lang: en
text: hSP56
lang: en
text: methanethiol oxidase
GeneType: Name: gene with protein product
Rare disease: TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome (Orphanet code 562569)
Associated genes:
Name: transmembrane protein 94
Symbol: TMEM94
GeneType: Name: gene with protein product
Rare disease: Childhood absence epilepsy (Orphanet code 64280)
Associated genes:
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 gamma2
Symbol: GABRG2
Synonyms: lang: en
text: GABA(A) receptor, gamma 2
GeneType: Name: gene with protein product
Name: solute carrier family 2 member 1
Symbol: SLC2A1
Synonyms: lang: en
text: DYT18
lang: en
text: DYT9
lang: en
text: GLUT-1
lang: en
text: dystonia gene 18
lang: en
text: dystonia gene 9
GeneType: Name: gene with protein product
Name: gamma-aminobutyric acid type A receptor subunit beta3
Symbol: GABRB3
Synonyms: lang: en
text: GABA(A) receptor, beta 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: calcium voltage-gated channel subunit alpha1 H
Symbol: CACNA1H
Synonyms: lang: en
text: Cav3.2
GeneType: Name: gene with protein product
Rare disease: Ovarian hyperstimulation syndrome (Orphanet code 64739)
Associated genes:
Name: follicle stimulating hormone receptor
Symbol: FSHR
Synonyms: lang: en
text: FSHRO
lang: en
text: LGR1
GeneType: Name: gene with protein product
Rare disease: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis (Orphanet code 63269)
Associated genes:
Name: cytochrome p450 oxidoreductase
Symbol: POR
Synonyms: lang: en
text: CYPOR
lang: en
text: FLJ26468
lang: en
text: NADPH--hemoprotein reductase
GeneType: Name: gene with protein product
Rare disease: Craniorachischisis (Orphanet code 63260)
Associated genes:
Name: dishevelled binding antagonist of beta catenin 1
Symbol: DACT1
Synonyms: lang: en
text: DAPPER
lang: en
text: DAPPER1
lang: en
text: FRODO
lang: en
text: HDPR1
lang: en
text: THYEX3
GeneType: Name: gene with protein product
Rare disease: Angel-shaped phalango-epiphyseal dysplasia (Orphanet code 63442)
Associated genes:
Name: growth differentiation factor 5
Symbol: GDF5
Synonyms: lang: en
text: BMP14
lang: en
text: CDMP1
lang: en
text: cartilage-derived morphogenetic protein-1
GeneType: Name: gene with protein product