TaoMedAI/RareMedData huggingface dataset:
Rare disease: Oculocutaneous albinism type 2 (Orphanet code 79432)
Associated genes:
Name: OCA2 melanosomal transmembrane protein
Symbol: OCA2
Synonyms: lang: en
text: BEY
lang: en
text: BEY1
lang: en
text: BEY2
lang: en
text: EYCL
lang: en
text: P-protein
lang: en
text: melanocyte-specific transporter protein
GeneType: Name: gene with protein product
Name: melanocortin 1 receptor
Symbol: MC1R
Synonyms: lang: en
text: MSH-R
lang: en
text: alpha melanocyte stimulating hormone receptor
GeneType: Name: gene with protein product
Rare disease: Oculocutaneous albinism type 1A (Orphanet code 79431)
Associated genes:
Name: tyrosinase
Symbol: TYR
Synonyms: lang: en
text: OCA1
lang: en
text: OCA1A
lang: en
text: OCAIA
lang: en
text: oculocutaneous albinism IA
GeneType: Name: gene with protein product
Rare disease: Pseudopseudohypoparathyroidism (Orphanet code 79445)
Associated genes:
Name: GNAS complex locus
Symbol: GNAS
Synonyms: lang: en
text: G protein subunit alpha S
lang: en
text: GNASXL
lang: en
text: GPSA
lang: en
text: NESP
lang: en
text: NESP55
lang: en
text: SCG6
lang: en
text: SgVI
lang: en
text: secretogranin VI
GeneType: Name: gene with protein product
Rare disease: Pseudohypoparathyroidism type 1C (Orphanet code 79444)
Associated genes:
Name: GNAS complex locus
Symbol: GNAS
Synonyms: lang: en
text: G protein subunit alpha S
lang: en
text: GNASXL
lang: en
text: GPSA
lang: en
text: NESP
lang: en
text: NESP55
lang: en
text: SCG6
lang: en
text: SgVI
lang: en
text: secretogranin VI
GeneType: Name: gene with protein product
Rare disease: Pseudohypoparathyroidism type 1A (Orphanet code 79443)
Associated genes:
Name: GNAS complex locus
Symbol: GNAS
Synonyms: lang: en
text: G protein subunit alpha S
lang: en
text: GNASXL
lang: en
text: GPSA
lang: en
text: NESP
lang: en
text: NESP55
lang: en
text: SCG6
lang: en
text: SgVI
lang: en
text: secretogranin VI
GeneType: Name: gene with protein product
Rare disease: Phakomatosis cesioflammea (Orphanet code 79483)
Associated genes:
Name: G protein subunit alpha q
Symbol: GNAQ
Synonyms: lang: en
text: G-ALPHA-q
lang: en
text: GAQ
GeneType: Name: gene with protein product
Name: G protein subunit alpha 11
Symbol: GNA11
Synonyms: lang: en
text: FBH
lang: en
text: FBH2
lang: en
text: FHH2
GeneType: Name: gene with protein product
Rare disease: Phakomatosis cesiomarmorata (Orphanet code 79484)
Associated genes:
Name: G protein subunit alpha 11
Symbol: GNA11
Synonyms: lang: en
text: FBH
lang: en
text: FBH2
lang: en
text: FHH2
GeneType: Name: gene with protein product
Rare disease: Griscelli syndrome type 3 (Orphanet code 79478)
Associated genes:
Name: melanophilin
Symbol: MLPH
Synonyms: lang: en
text: SLAC2-A
lang: en
text: Slac-2a
lang: en
text: exophilin-3
lang: en
text: l(1)-3Rk
lang: en
text: l1Rk3
lang: en
text: ln
lang: en
text: synaptotagmin-like protein homologue lacking C2 domains-a
GeneType: Name: gene with protein product
Name: myosin VA
Symbol: MYO5A
Synonyms: lang: en
text: GS1
lang: en
text: MYO5
lang: en
text: MYR12
lang: en
text: Unconventional myosin-Va
lang: en
text: myosin V
lang: en
text: myosin heavy chain 12
lang: en
text: myosin, heavy polypeptide kinase
lang: en
text: myoxin
GeneType: Name: gene with protein product
Rare disease: Atypical Werner syndrome (Orphanet code 79474)
Associated genes:
Name: lamin A/C
Symbol: LMNA
Synonyms: lang: en
text: HGPS
lang: en
text: MADA
lang: en
text: mandibuloacral dysplasia type A
lang: en
text: progerin
GeneType: Name: gene with protein product
Rare disease: Griscelli syndrome type 2 (Orphanet code 79477)
Associated genes:
Name: RAB27A, member RAS oncogene family
Symbol: RAB27A
Synonyms: lang: en
text: GS2
lang: en
text: HsT18676
lang: en
text: RAB27
lang: en
text: RAM
GeneType: Name: gene with protein product
Rare disease: Griscelli syndrome type 1 (Orphanet code 79476)
Associated genes:
Name: myosin VA
Symbol: MYO5A
Synonyms: lang: en
text: GS1
lang: en
text: MYO5
lang: en
text: MYR12
lang: en
text: Unconventional myosin-Va
lang: en
text: myosin V
lang: en
text: myosin heavy chain 12
lang: en
text: myosin, heavy polypeptide kinase
lang: en
text: myoxin
GeneType: Name: gene with protein product
Rare disease: Variegate porphyria (Orphanet code 79473)
Associated genes:
Name: protoporphyrinogen oxidase
Symbol: PPOX
Synonyms: lang: en
text: PPO
GeneType: Name: gene with protein product
Rare disease: Sanfilippo syndrome type A (Orphanet code 79269)
Associated genes:
Name: N-sulfoglucosamine sulfohydrolase
Symbol: SGSH
Synonyms: lang: en
text: HSS
lang: en
text: MPS3A
lang: en
text: SFMD
lang: en
text: mucopolysaccharidosis type IIIA
lang: en
text: sulfamidase
GeneType: Name: gene with protein product
Rare disease: GM1 gangliosidosis type 3 (Orphanet code 79257)
Associated genes:
Name: galactosidase beta 1
Symbol: GLB1
Synonyms: lang: en
text: EBP
lang: en
text: elastin binding protein
GeneType: Name: gene with protein product
Rare disease: GM1 gangliosidosis type 2 (Orphanet code 79256)
Associated genes:
Name: galactosidase beta 1
Symbol: GLB1
Synonyms: lang: en
text: EBP
lang: en
text: elastin binding protein
GeneType: Name: gene with protein product
Rare disease: GM1 gangliosidosis type 1 (Orphanet code 79255)
Associated genes:
Name: galactosidase beta 1
Symbol: GLB1
Synonyms: lang: en
text: EBP
lang: en
text: elastin binding protein
GeneType: Name: gene with protein product
Rare disease: Classic phenylketonuria (Orphanet code 79254)
Associated genes:
Name: phenylalanine hydroxylase
Symbol: PAH
Synonyms: lang: en
text: PH
lang: en
text: phenylalanine 4-monooxygenase
GeneType: Name: gene with protein product
Rare disease: Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib (Orphanet code 79259)
Associated genes:
Name: solute carrier family 37 member 4
Symbol: SLC37A4
Synonyms: lang: en
text: G6PT
lang: en
text: GSD1b
lang: en
text: GSD1c
lang: en
text: GSD1d
lang: en
text: Glucose-6-phosphate exchanger SLC37A4
lang: en
text: SPX4
lang: en
text: glucose-6-phosphatase transporter
lang: en
text: sugar-phosphate exchange protein 4
GeneType: Name: gene with protein product
Rare disease: Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia (Orphanet code 79258)
Associated genes:
Name: glucose-6-phosphatase catalytic subunit 1
Symbol: G6PC1
Synonyms: lang: en
text: G6PC1
lang: en
text: GSD1a
lang: en
text: glycogen storage disease type I, von Gierke disease
GeneType: Name: gene with protein product
Rare disease: Pyruvate dehydrogenase phosphatase deficiency (Orphanet code 79246)
Associated genes:
Name: pyruvate dehydrogenase phosphatase catalytic subunit 1
Symbol: PDP1
Synonyms: lang: en
text: PDH
lang: en
text: PDP
lang: en
text: PPM2A
lang: en
text: protein phosphatase, Mg2+/Mn2+ dependent 2A
GeneType: Name: gene with protein product
Rare disease: Mild phenylketonuria (Orphanet code 79253)
Associated genes:
Name: phenylalanine hydroxylase
Symbol: PAH
Synonyms: lang: en
text: PH
lang: en
text: phenylalanine 4-monooxygenase
GeneType: Name: gene with protein product
Rare disease: Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (Orphanet code 79240)
Associated genes:
Name: phosphorylase kinase regulatory subunit beta
Symbol: PHKB
GeneType: Name: gene with protein product
Rare disease: Biotinidase deficiency (Orphanet code 79241)
Associated genes:
Name: biotinidase
Symbol: BTD
Synonyms: lang: en
text: biotinase
GeneType: Name: gene with protein product
Rare disease: Classic galactosemia (Orphanet code 79239)
Associated genes:
Name: galactose-1-phosphate uridylyltransferase
Symbol: GALT
GeneType: Name: gene with protein product
Rare disease: Pyruvate dehydrogenase E2 deficiency (Orphanet code 79244)
Associated genes:
Name: dihydrolipoamide S-acetyltransferase
Symbol: DLAT
Synonyms: lang: en
text: E2
lang: en
text: E2 component of pyruvate dehydrogenase complex
lang: en
text: PDC-E2
lang: en
text: dihydrolipoyllysine-residue acetyltransferase
GeneType: Name: gene with protein product
Rare disease: Holocarboxylase synthetase deficiency (Orphanet code 79242)
Associated genes:
Name: holocarboxylase synthetase
Symbol: HLCS
Synonyms: lang: en
text: HCS
lang: en
text: biotin--protein ligase
GeneType: Name: gene with protein product
Rare disease: Pyruvate dehydrogenase E1-alpha deficiency (Orphanet code 79243)
Associated genes:
Name: pyruvate dehydrogenase E1 subunit alpha 1
Symbol: PDHA1
Synonyms: lang: en
text: E1alpha
lang: en
text: pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
GeneType: Name: gene with protein product
Name: lon peptidase 1, mitochondrial
Symbol: LONP1
Synonyms: lang: en
text: LonHS
lang: en
text: Mitochondrial ATP-dependent protease Lon
lang: en
text: PIM1
lang: en
text: hLON
GeneType: Name: gene with protein product
Rare disease: Congenital glucokinase-related hyperinsulinism (Orphanet code 79299)
Associated genes:
Name: glucokinase
Symbol: GCK
Synonyms: lang: en
text: HK4
lang: en
text: hexokinase 4
GeneType: Name: gene with protein product
Rare disease: Congenital bile acid synthesis defect type 1 (Orphanet code 79301)
Associated genes:
Name: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
Symbol: HSD3B7
Synonyms: lang: en
text: C(27)-3BETA-HSD
lang: en
text: SDR11E3
lang: en
text: short chain dehydrogenase/reductase family 11E, member 3
GeneType: Name: gene with protein product
Rare disease: Familial LCAT deficiency (Orphanet code 79293)
Associated genes:
Name: lecithin-cholesterol acyltransferase
Symbol: LCAT
Synonyms: lang: en
text: phosphatidylcholine--sterol O-acyltransferase
GeneType: Name: gene with protein product
Rare disease: Fish-eye disease (Orphanet code 79292)
Associated genes:
Name: lecithin-cholesterol acyltransferase
Symbol: LCAT
Synonyms: lang: en
text: phosphatidylcholine--sterol O-acyltransferase
GeneType: Name: gene with protein product
Rare disease: Autosomal erythropoietic protoporphyria (Orphanet code 79278)
Associated genes:
Name: ferrochelatase
Symbol: FECH
Synonyms: lang: en
text: protoporphyria
GeneType: Name: gene with protein product
Rare disease: Alpha-N-acetylgalactosaminidase deficiency type 1 (Orphanet code 79279)
Associated genes:
Name: alpha-N-acetylgalactosaminidase
Symbol: NAGA
Synonyms: lang: en
text: D22S674
lang: en
text: alpha-galactosidase B
GeneType: Name: gene with protein product
Rare disease: Alpha-N-acetylgalactosaminidase deficiency type 2 (Orphanet code 79280)
Associated genes:
Name: alpha-N-acetylgalactosaminidase
Symbol: NAGA
Synonyms: lang: en
text: D22S674
lang: en
text: alpha-galactosidase B
GeneType: Name: gene with protein product
Rare disease: Alpha-N-acetylgalactosaminidase deficiency type 3 (Orphanet code 79281)
Associated genes:
Name: alpha-N-acetylgalactosaminidase
Symbol: NAGA
Synonyms: lang: en
text: D22S674
lang: en
text: alpha-galactosidase B
GeneType: Name: gene with protein product
Rare disease: Methylmalonic acidemia with homocystinuria, type cblC (Orphanet code 79282)
Associated genes:
Name: metabolism of cobalamin associated C
Symbol: MMACHC
Synonyms: lang: en
text: DKFZP564I122
lang: en
text: cblC
GeneType: Name: gene with protein product
Rare disease: Methylmalonic acidemia with homocystinuria, type cblD (Orphanet code 79283)
Associated genes:
Name: metabolism of cobalamin associated D
Symbol: MMADHC
Synonyms: lang: en
text: CL25022
lang: en
text: cblD
GeneType: Name: gene with protein product
Rare disease: Methylmalonic acidemia with homocystinuria type cblF (Orphanet code 79284)
Associated genes:
Name: LMBR1 domain containing 1
Symbol: LMBRD1
Synonyms: lang: en
text: FLJ11240
lang: en
text: bA810I22.1
lang: en
text: cblF
GeneType: Name: gene with protein product
Rare disease: Sanfilippo syndrome type B (Orphanet code 79270)
Associated genes:
Name: N-acetyl-alpha-glucosaminidase
Symbol: NAGLU
Synonyms: lang: en
text: NAG
lang: en
text: Sanfilippo disease IIIB
GeneType: Name: gene with protein product
Rare disease: Sanfilippo syndrome type C (Orphanet code 79271)
Associated genes:
Name: heparan-alpha-glucosaminide N-acetyltransferase
Symbol: HGSNAT
Synonyms: lang: en
text: FLJ32731
lang: en
text: HGNAT
GeneType: Name: gene with protein product
Rare disease: Sanfilippo syndrome type D (Orphanet code 79272)
Associated genes:
Name: glucosamine (N-acetyl)-6-sulfatase
Symbol: GNS
Synonyms: lang: en
text: N-acetylglucosamine-6-sulfatase
lang: en
text: Sanfilippo disease IIID
GeneType: Name: gene with protein product
Rare disease: Hereditary coproporphyria (Orphanet code 79273)
Associated genes:
Name: coproporphyrinogen oxidase
Symbol: CPOX
Synonyms: lang: en
text: CPX
lang: en
text: HCP
lang: en
text: coproporphyria
lang: en
text: homozygous coproporphyria
GeneType: Name: gene with protein product
Rare disease: Acute intermittent porphyria (Orphanet code 79276)
Associated genes:
Name: hydroxymethylbilane synthase
Symbol: HMBS
GeneType: Name: gene with protein product
Rare disease: Congenital erythropoietic porphyria (Orphanet code 79277)
Associated genes:
Name: uroporphyrinogen III synthase
Symbol: UROS
Synonyms: lang: en
text: congenital erythropoietic porphyria
GeneType: Name: gene with protein product
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: COG7-CDG (Orphanet code 79333)
Associated genes:
Name: component of oligomeric golgi complex 7
Symbol: COG7
GeneType: Name: gene with protein product
Rare disease: B4GALT1-CDG (Orphanet code 79332)
Associated genes:
Name: beta-1,4-galactosyltransferase 1
Symbol: B4GALT1
Synonyms: lang: en
text: Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase
lang: en
text: N-acetyllactosamine synthase
lang: en
text: beta4Gal-T1
lang: en
text: lactose synthase A
GeneType: Name: gene with protein product
Rare disease: MOGS-CDG (Orphanet code 79330)
Associated genes:
Name: mannosyl-oligosaccharide glucosidase
Symbol: MOGS
Synonyms: lang: en
text: CWH41
lang: en
text: DER7
lang: en
text: GCS1
lang: en
text: glucosidase I
lang: en
text: processing A-glucosidase I
GeneType: Name: gene with protein product
Rare disease: MGAT2-CDG (Orphanet code 79329)
Associated genes:
Name: alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
Symbol: MGAT2
Synonyms: lang: en
text: GNT-II
GeneType: Name: gene with protein product
Rare disease: ALG9-CDG (Orphanet code 79328)
Associated genes:
Name: ALG9 alpha-1,2-mannosyltransferase
Symbol: ALG9
Synonyms: lang: en
text: dol-P-Man dependent alpha-1,2-mannosyltransferase
lang: en
text: dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase
lang: en
text: dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase
GeneType: Name: gene with protein product
Rare disease: ALG1-CDG (Orphanet code 79327)
Associated genes:
Name: ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase
Symbol: ALG1
Synonyms: lang: en
text: CDG1K
lang: en
text: HMAT1
lang: en
text: HMT-1
lang: en
text: Mat-1
GeneType: Name: gene with protein product
Rare disease: ALG2-CDG (Orphanet code 79326)
Associated genes:
Name: ALG2 alpha-1,3/1,6-mannosyltransferase
Symbol: ALG2
Synonyms: lang: en
text: CDG1I
lang: en
text: CDGIi
lang: en
text: FLJ14511
lang: en
text: NET38
lang: en
text: hALPG2
GeneType: Name: gene with protein product
Rare disease: ALG8-CDG (Orphanet code 79325)
Associated genes:
Name: ALG8 alpha-1,3-glucosyltransferase
Symbol: ALG8
Synonyms: lang: en
text: MGC2840
lang: en
text: dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase
GeneType: Name: gene with protein product
Rare disease: ALG12-CDG (Orphanet code 79324)
Associated genes:
Name: ALG12 alpha-1,6-mannosyltransferase
Symbol: ALG12
Synonyms: lang: en
text: CDG1G
lang: en
text: ECM39
lang: en
text: dol-P-Man dependent alpha-1,6-mannosyltransferase
lang: en
text: dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase
GeneType: Name: gene with protein product
Rare disease: MPDU1-CDG (Orphanet code 79323)
Associated genes:
Name: mannose-P-dolichol utilization defect 1
Symbol: MPDU1
Synonyms: lang: en
text: CDGIf
lang: en
text: Lec35
lang: en
text: PQLC5
lang: en
text: SL15
lang: en
text: SLC66A5
GeneType: Name: gene with protein product
Rare disease: DPM1-CDG (Orphanet code 79322)
Associated genes:
Name: dolichyl-phosphate mannosyltransferase subunit 1, catalytic
Symbol: DPM1
Synonyms: lang: en
text: CDGIE
lang: en
text: DPM synthase complex, catalytic subunit
lang: en
text: MPDS
GeneType: Name: gene with protein product
Rare disease: ALG3-CDG (Orphanet code 79321)
Associated genes:
Name: ALG3 alpha-1,3- mannosyltransferase
Symbol: ALG3
Synonyms: lang: en
text: CDGS4
lang: en
text: D16Ertd36e
lang: en
text: NOT56L
lang: en
text: Not56
lang: en
text: carbohydrate deficient glycoprotein syndrome type IV
lang: en
text: dol-P-Man dependent alpha-1,3- mannosyltransferase
lang: en
text: dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase
GeneType: Name: gene with protein product
Rare disease: ALG6-CDG (Orphanet code 79320)
Associated genes:
Name: ALG6 alpha-1,3-glucosyltransferase
Symbol: ALG6
Synonyms: lang: en
text: dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase
GeneType: Name: gene with protein product
Rare disease: MPI-CDG (Orphanet code 79319)
Associated genes:
Name: mannose phosphate isomerase
Symbol: MPI
Synonyms: lang: en
text: mannose-6-phosphate isomerase
GeneType: Name: gene with protein product
Rare disease: PMM2-CDG (Orphanet code 79318)
Associated genes:
Name: phosphomannomutase 2
Symbol: PMM2
Synonyms: lang: en
text: CDG1a
lang: en
text: CDGS
lang: en
text: Congenital disorder of glycosylation, type Ia
lang: en
text: PMI
lang: en
text: PMI1
lang: en
text: mannose-6-phosphate isomerase
lang: en
text: phosphomannose isomerase 1
GeneType: Name: gene with protein product
Rare disease: L-2-hydroxyglutaric aciduria (Orphanet code 79314)
Associated genes:
Name: L-2-hydroxyglutarate dehydrogenase
Symbol: L2HGDH
Synonyms: lang: en
text: 2-hydroxyglutarate dehydrogenase
lang: en
text: FLJ12618
GeneType: Name: gene with protein product
Rare disease: D-2-hydroxyglutaric aciduria (Orphanet code 79315)
Associated genes:
Name: D-2-hydroxyglutarate dehydrogenase
Symbol: D2HGDH
Synonyms: lang: en
text: D2HGD
lang: en
text: FLJ42195
lang: en
text: MGC25181
GeneType: Name: gene with protein product
Name: isocitrate dehydrogenase (NADP(+)) 2
Symbol: IDH2
Synonyms: lang: en
text: IDH-2
GeneType: Name: gene with protein product
Rare disease: Vitamin B12-unresponsive methylmalonic acidemia type mut- (Orphanet code 79312)
Associated genes:
Name: methylmalonyl-CoA mutase
Symbol: MMUT
Synonyms: lang: en
text: MCM
lang: en
text: Methylmalonyl-CoA mutase, mitochondrial
GeneType: Name: gene with protein product
Rare disease: Vitamin B12-responsive methylmalonic acidemia type cblA (Orphanet code 79310)
Associated genes:
Name: metabolism of cobalamin associated A
Symbol: MMAA
Synonyms: lang: en
text: cblA
GeneType: Name: gene with protein product
Rare disease: Vitamin B12-responsive methylmalonic acidemia type cblB (Orphanet code 79311)
Associated genes:
Name: metabolism of cobalamin associated B
Symbol: MMAB
Synonyms: lang: en
text: ATP:cob(I)alamin adenosyltransferase
lang: en
text: CFAP23
lang: en
text: cblB
lang: en
text: cilia and flagella associated protein 23
GeneType: Name: gene with protein product
Rare disease: Progressive familial intrahepatic cholestasis type 1 (Orphanet code 79306)
Associated genes:
Name: myosin VB
Symbol: MYO5B
Synonyms: lang: en
text: KIAA1119
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: Progressive familial intrahepatic cholestasis type 2 (Orphanet code 79304)
Associated genes:
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
Rare disease: Progressive familial intrahepatic cholestasis type 3 (Orphanet code 79305)
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: Congenital bile acid synthesis defect type 3 (Orphanet code 79302)
Associated genes:
Name: cytochrome P450 family 7 subfamily B member 1
Symbol: CYP7B1
GeneType: Name: gene with protein product
Rare disease: Congenital bile acid synthesis defect type 2 (Orphanet code 79303)
Associated genes:
Name: aldo-keto reductase family 1 member D1
Symbol: AKR1D1
Synonyms: lang: en
text: delta 4-3-ketosteroid-5-beta-reductase
GeneType: Name: gene with protein product
Rare disease: 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (Orphanet code 79351)
Associated genes:
Name: phosphoglycerate dehydrogenase
Symbol: PHGDH
Synonyms: lang: en
text: D-3-phosphoglycerate dehydrogenase
lang: en
text: PDG
lang: en
text: PGDH
lang: en
text: SERA
GeneType: Name: gene with protein product
Rare disease: 3-phosphoserine phosphatase deficiency, infantile/juvenile form (Orphanet code 79350)
Associated genes:
Name: phosphoserine phosphatase
Symbol: PSPH
GeneType: Name: gene with protein product
Rare disease: Brachytelephalangic chondrodysplasia punctata (Orphanet code 79345)
Associated genes:
Name: arylsulfatase L
Symbol: ARSL
Synonyms: lang: en
text: chondrodysplasia punctata 1
GeneType: Name: gene with protein product
Rare disease: Singleton-Merten dysplasia (Orphanet code 85191)
Associated genes:
Name: interferon induced with helicase C domain 1
Symbol: IFIH1
Synonyms: lang: en
text: Hlcd
lang: en
text: IDDM19
lang: en
text: MDA-5
lang: en
text: MDA5
lang: en
text: helicard
lang: en
text: melanoma differentiation-associated gene 5
GeneType: Name: gene with protein product
Name: RNA sensor RIG-I
Symbol: RIGI
Synonyms: lang: en
text: Antiviral innate immune response receptor RIG-I
lang: en
text: DKFZp434J1111
lang: en
text: FLJ13599
lang: en
text: RIG-1
lang: en
text: RIG-I
lang: en
text: RIG1
lang: en
text: RNA helicase RIG-I
lang: en
text: retinoic acid inducible gene I
GeneType: Name: gene with protein product
Rare disease: Idiopathic juvenile osteoporosis (Orphanet code 85193)
Associated genes:
Name: Wnt family member 3A
Symbol: WNT3A
GeneType: Name: gene with protein product
Name: dickkopf WNT signaling pathway inhibitor 1
Symbol: DKK1
Synonyms: lang: en
text: DKK-1
lang: en
text: SK
GeneType: Name: gene with protein product
Name: Wnt family member 1
Symbol: WNT1
GeneType: Name: gene with protein product
Rare disease: Familial expansile osteolysis (Orphanet code 85195)
Associated genes:
Name: TNF receptor superfamily member 11a
Symbol: TNFRSF11A
Synonyms: lang: en
text: CD265
lang: en
text: FEO
lang: en
text: ODFR
lang: en
text: RANK
lang: en
text: TRANCE receptor
lang: en
text: TRANCE-R
lang: en
text: familial expansile osteolysis
lang: en
text: osteoclast differentiation factor receptor
lang: en
text: receptor activator of nuclear factor kappa B
GeneType: Name: gene with protein product
Rare disease: Spondylo-ocular syndrome (Orphanet code 85194)
Associated genes:
Name: xylosyltransferase 2
Symbol: XYLT2
Synonyms: lang: en
text: PXYLT2
lang: en
text: XT-II
lang: en
text: protein xylosyltransferase 2
GeneType: Name: gene with protein product
Rare disease: Craniosynostosis-anal anomalies-porokeratosis syndrome (Orphanet code 85199)
Associated genes:
Name: RNA, U12 small nuclear
Symbol: RNU12
Synonyms: lang: en
text: RNA, U12 small nuclear 1
lang: en
text: RNU12-1
GeneType: Name: Non-coding RNA
Rare disease: Dysspondyloenchondromatosis (Orphanet code 85198)
Associated genes:
Name: collagen type II alpha 1 chain
Symbol: COL2A1
Synonyms: lang: en
text: STL1
GeneType: Name: gene with protein product
Rare disease: Genitopatellar syndrome (Orphanet code 85201)
Associated genes:
Name: lysine acetyltransferase 6B
Symbol: KAT6B
Synonyms: lang: en
text: MOZ-related factor
lang: en
text: MOZ2
lang: en
text: Morf
lang: en
text: ZC2HC6B
lang: en
text: qkf
lang: en
text: querkopf
GeneType: Name: gene with protein product