TaoMedAI/RareMedData huggingface dataset:
Rare disease: Congenital cataract microcornea with corneal opacity (Orphanet code 289499)
Associated genes:
Name: peroxidasin
Symbol: PXDN
Synonyms: lang: en
text: D2S448
lang: en
text: D2S448E
lang: en
text: KIAA0230
lang: en
text: MG50
lang: en
text: PRG2
lang: en
text: PXN
GeneType: Name: gene with protein product
Name: atonal bHLH transcription factor 7
Symbol: ATOH7
Synonyms: lang: en
text: Math5
lang: en
text: bHLHa13
GeneType: Name: gene with protein product
Rare disease: 12q15q21.1 microdeletion syndrome (Orphanet code 289513)
Associated genes:
Name: CCR4-NOT transcription complex subunit 2
Symbol: CNOT2
Synonyms: lang: en
text: CC chemokine receptor 4-negative regulator of transcription 2
lang: en
text: CDC36
lang: en
text: NOT2H
GeneType: Name: gene with protein product
Rare disease: Isolated congenital adermatoglyphia (Orphanet code 289465)
Associated genes:
Name: SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
Symbol: SMARCAD1
Synonyms: lang: en
text: DKFZP762K2015
lang: en
text: DKFZp762K2015
lang: en
text: ETL1
lang: en
text: KIAA1122
GeneType: Name: gene with protein product
Rare disease: PASH syndrome (Orphanet code 289478)
Associated genes:
Name: nicastrin
Symbol: NCSTN
Synonyms: lang: en
text: APH2
lang: en
text: KIAA0253
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive hypophosphatemic rickets (Orphanet code 289176)
Associated genes:
Name: dentin matrix acidic phosphoprotein 1
Symbol: DMP1
GeneType: Name: gene with protein product
Name: ectonucleotide pyrophosphatase/phosphodiesterase 1
Symbol: ENPP1
Synonyms: lang: en
text: PC-1
lang: en
text: PCA1
GeneType: Name: gene with protein product
Rare disease: Hypocalcemic vitamin D-dependent rickets (Orphanet code 289157)
Associated genes:
Name: cytochrome P450 family 27 subfamily B member 1
Symbol: CYP27B1
Synonyms: lang: en
text: 1alpha(OH)ase
lang: en
text: 25-Hydroxyvitamin D3 1alpha-hydroxylase
lang: en
text: CYP1
lang: en
text: Calcidiol 1-monooxygenase
lang: en
text: P450c1
lang: en
text: VDDR I
GeneType: Name: gene with protein product
Name: cytochrome P450 family 2 subfamily R member 1
Symbol: CYP2R1
Synonyms: lang: en
text: Vitamin D 25-hydroxylase
GeneType: Name: gene with protein product
Rare disease: Syndromic recessive X-linked ichthyosis (Orphanet code 281090)
Associated genes:
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: Congenital reticular ichthyosiform erythroderma (Orphanet code 281190)
Associated genes:
Name: keratin 1
Symbol: KRT1
Synonyms: lang: en
text: KRT1A
GeneType: Name: gene with protein product
Name: keratin 10
Symbol: KRT10
Synonyms: lang: en
text: CK10
lang: en
text: K10
lang: en
text: cytokeratin 10
lang: en
text: epidermolytic hyperkeratosis
GeneType: Name: gene with protein product
Rare disease: Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome (Orphanet code 281201)
Associated genes:
Name: proteasome maturation protein
Symbol: POMP
Synonyms: lang: en
text: HSPC014
lang: en
text: UMP1
lang: en
text: proteassemblin
GeneType: Name: gene with protein product
Rare disease: Annular epidermolytic ichthyosis (Orphanet code 281139)
Associated genes:
Name: keratin 10
Symbol: KRT10
Synonyms: lang: en
text: CK10
lang: en
text: K10
lang: en
text: cytokeratin 10
lang: en
text: epidermolytic hyperkeratosis
GeneType: Name: gene with protein product
Name: keratin 1
Symbol: KRT1
Synonyms: lang: en
text: KRT1A
GeneType: Name: gene with protein product
Rare disease: Self-improving collodion baby (Orphanet code 281122)
Associated genes:
Name: arachidonate 12-lipoxygenase, 12R type
Symbol: ALOX12B
Synonyms: lang: en
text: 12R-LOX
lang: en
text: 12R-lipoxygenase
GeneType: Name: gene with protein product
Name: arachidonate lipoxygenase 3
Symbol: ALOXE3
Synonyms: lang: en
text: E-LOX
lang: en
text: Epidermal lipoxygenase-3
lang: en
text: eLOX3
lang: en
text: hydroperoxide isomerase
GeneType: Name: gene with protein product
Name: transglutaminase 1
Symbol: TGM1
Synonyms: lang: en
text: K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase
lang: en
text: LI
lang: en
text: LI1
lang: en
text: TGASE
lang: en
text: TGK
GeneType: Name: gene with protein product
Rare disease: Acral self-healing collodion baby (Orphanet code 281127)
Associated genes:
Name: transglutaminase 1
Symbol: TGM1
Synonyms: lang: en
text: K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase
lang: en
text: LI
lang: en
text: LI1
lang: en
text: TGASE
lang: en
text: TGK
GeneType: Name: gene with protein product
Rare disease: Familial progressive hyper- and hypopigmentation (Orphanet code 280628)
Associated genes:
Name: KIT ligand
Symbol: KITLG
Synonyms: lang: en
text: DFNA69
lang: en
text: FPH2
lang: en
text: KL-1
lang: en
text: Kitl
lang: en
text: SCF
lang: en
text: SF
lang: en
text: SLF
lang: en
text: familial progressive hyperpigmentation 2
lang: en
text: mast cell growth factor
lang: en
text: steel factor
lang: en
text: stem cell factor
GeneType: Name: gene with protein product
Rare disease: Multiple congenital anomalies-hypotonia-seizures syndrome (Orphanet code 280633)
Associated genes:
Name: phosphatidylinositol glycan anchor biosynthesis class N
Symbol: PIGN
Synonyms: lang: en
text: GPI ethanolamine phosphate transferase 1
lang: en
text: MCD4
lang: en
text: MDC4
lang: en
text: PIG-N
GeneType: Name: gene with protein product
Rare disease: Hemoglobinopathy Toms River (Orphanet code 280615)
Associated genes:
Name: hemoglobin subunit gamma 2
Symbol: HBG2
Synonyms: lang: en
text: HBG-T1
lang: en
text: fetal hemoglobin F subunit gamma 2
GeneType: Name: gene with protein product
Rare disease: Hereditary sensorimotor neuropathy with hyperelastic skin (Orphanet code 280598)
Associated genes:
Name: fibulin 5
Symbol: FBLN5
Synonyms: lang: en
text: ARMD3
lang: en
text: DANCE
lang: en
text: EVEC
lang: en
text: UP50
lang: en
text: developmental arteries and neural crest EGF-like
lang: en
text: embryonic vascular EGF-like repeat-containing protein
GeneType: Name: gene with protein product
Rare disease: Progressive myoclonic epilepsy type 6 (Orphanet code 280620)
Associated genes:
Name: golgi SNAP receptor complex member 2
Symbol: GOSR2
Synonyms: lang: en
text: Bos1
lang: en
text: GS27
GeneType: Name: gene with protein product
Rare disease: Megaconial congenital muscular dystrophy (Orphanet code 280671)
Associated genes:
Name: choline kinase beta
Symbol: CHKB
Synonyms: lang: en
text: CHETK
GeneType: Name: gene with protein product
Rare disease: Occipital pachygyria and polymicrogyria (Orphanet code 280640)
Associated genes:
Name: laminin subunit gamma 3
Symbol: LAMC3
Synonyms: lang: en
text: DKFZp434E202
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive nail dysplasia (Orphanet code 280654)
Associated genes:
Name: frizzled class receptor 6
Symbol: FZD6
Synonyms: lang: en
text: Hfz6
GeneType: Name: gene with protein product
Rare disease: Bullous diffuse cutaneous mastocytosis (Orphanet code 280785)
Associated genes:
Name: KIT proto-oncogene, receptor tyrosine kinase
Symbol: KIT
Synonyms: lang: en
text: C-Kit
lang: en
text: CD117
lang: en
text: SCFR
lang: en
text: mast/stem cell growth factor receptor Kit
GeneType: Name: gene with protein product
Rare disease: Pseudoxanthomatous diffuse cutaneous mastocytosis (Orphanet code 280794)
Associated genes:
Name: KIT proto-oncogene, receptor tyrosine kinase
Symbol: KIT
Synonyms: lang: en
text: C-Kit
lang: en
text: CD117
lang: en
text: SCFR
lang: en
text: mast/stem cell growth factor receptor Kit
GeneType: Name: gene with protein product
Rare disease: Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome (Orphanet code 280679)
Associated genes:
Name: BRCA1/BRCA2-containing complex subunit 3
Symbol: BRCC3
Synonyms: lang: en
text: BRCC36
lang: en
text: C6.1A
lang: en
text: Lys-63-specific deubiquitinase
GeneType: Name: gene with protein product
Rare disease: Severe intellectual disability and progressive spastic paraplegia (Orphanet code 280763)
Associated genes:
Name: adaptor related protein complex 4 subunit mu 1
Symbol: AP4M1
Synonyms: lang: en
text: AP-4 adapter complex mu subunit
lang: en
text: MU-4
lang: en
text: MU-ARP2
lang: en
text: SPG50
lang: en
text: adaptor-related protein complex AP-4 mu4 subunit
lang: en
text: mu subunit of AP-4
lang: en
text: mu-adaptin-related protein-2
GeneType: Name: gene with protein product
Name: adaptor related protein complex 4 subunit epsilon 1
Symbol: AP4E1
Synonyms: lang: en
text: AP-4-EPSILON
lang: en
text: SPG51
GeneType: Name: gene with protein product
Name: adaptor related protein complex 4 subunit beta 1
Symbol: AP4B1
Synonyms: lang: en
text: AP-4 complex subunit beta-1
lang: en
text: BETA-4
lang: en
text: beta 4 subunit of AP-4
GeneType: Name: gene with protein product
Name: adaptor related protein complex 4 subunit sigma 1
Symbol: AP4S1
Synonyms: lang: en
text: AP47B
lang: en
text: CLA20
lang: en
text: SPG52
GeneType: Name: gene with protein product
Rare disease: Craniosynostosis-dental anomalies (Orphanet code 284149)
Associated genes:
Name: interleukin 11 receptor subunit alpha
Symbol: IL11RA
GeneType: Name: gene with protein product
Rare disease: Larsen-like syndrome, B3GAT3 type (Orphanet code 284139)
Associated genes:
Name: beta-1,3-glucuronyltransferase 3
Symbol: B3GAT3
Synonyms: lang: en
text: GlcAT-I
lang: en
text: galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3
lang: en
text: glucuronosyltransferase I
GeneType: Name: gene with protein product
Rare disease: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (Orphanet code 284169)
Associated genes:
Name: WW domain containing adaptor with coiled-coil
Symbol: WAC
Synonyms: lang: en
text: BM-016
lang: en
text: FLJ31290
lang: en
text: MGC10753
lang: en
text: PRO1741
lang: en
text: Wwp4
GeneType: Name: gene with protein product
Rare disease: Familial retinal arterial macroaneurysm (Orphanet code 284247)
Associated genes:
Name: insulin like growth factor binding protein 7
Symbol: IGFBP7
Synonyms: lang: en
text: FSTL2
lang: en
text: IGFBP-7
lang: en
text: MAC25
lang: en
text: PSF
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant Charcot-Marie-Tooth disease type 2O (Orphanet code 284232)
Associated genes:
Name: dynein cytoplasmic 1 heavy chain 1
Symbol: DYNC1H1
Synonyms: lang: en
text: CMT2O
lang: en
text: DHC1
lang: en
text: Dnchc1
lang: en
text: HL-3
lang: en
text: p22
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive cerebellar ataxia-psychomotor delay syndrome (Orphanet code 284271)
Associated genes:
Name: synaptotagmin 14
Symbol: SYT14
Synonyms: lang: en
text: FLJ34198
lang: en
text: sytXIV
GeneType: Name: gene with protein product
Rare disease: Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (Orphanet code 284324)
Associated genes:
Name: tripeptidyl peptidase 1
Symbol: TPP1
Synonyms: lang: en
text: LPIC
lang: en
text: TPP I
lang: en
text: TPP-1
lang: en
text: lysosomal pepstatin-insensitive carboxypeptidase
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency (Orphanet code 284282)
Associated genes:
Name: WW domain containing oxidoreductase
Symbol: WWOX
Synonyms: lang: en
text: FOR
lang: en
text: SDR41C1
lang: en
text: WOX1
lang: en
text: short chain dehydrogenase/reductase family 41C, member 1
GeneType: Name: gene with protein product
Rare disease: Adult-onset autosomal recessive cerebellar ataxia (Orphanet code 284289)
Associated genes:
Name: anoctamin 10
Symbol: ANO10
Synonyms: lang: en
text: FLJ10375
lang: en
text: MGC47890
lang: en
text: SCAR10
GeneType: Name: gene with protein product
Rare disease: DICER1 tumor-predisposition syndrome (Orphanet code 284343)
Associated genes:
Name: dicer 1, ribonuclease III
Symbol: DICER1
Synonyms: lang: en
text: Dicer
lang: en
text: HERNA
lang: en
text: K12H4.8-LIKE
lang: en
text: KIAA0928
lang: en
text: dicer 1, double-stranded RNA-specific endoribonuclease
GeneType: Name: gene with protein product
Rare disease: Pontocerebellar hypoplasia type 7 (Orphanet code 284339)
Associated genes:
Name: target of EGR1, exonuclease
Symbol: TOE1
Synonyms: lang: en
text: TOE-1
lang: en
text: hCaf1z
GeneType: Name: gene with protein product
Name: multiple inositol-polyphosphate phosphatase 1
Symbol: MINPP1
Synonyms: lang: en
text: MIPP
GeneType: Name: gene with protein product
Rare disease: Glycerol kinase deficiency, juvenile form (Orphanet code 284411)
Associated genes:
Name: glycerol kinase
Symbol: GK
Synonyms: lang: en
text: GK1
lang: en
text: GKD
GeneType: Name: gene with protein product
Rare disease: Inherited Creutzfeldt-Jakob disease (Orphanet code 282166)
Associated genes:
Name: prion protein (Kanno blood group)
Symbol: PRNP
Synonyms: lang: en
text: AltPrP
lang: en
text: CD230
lang: en
text: Creutzfeldt-Jakob disease
lang: en
text: Gerstmann-Strausler-Scheinker syndrome
lang: en
text: PRP
lang: en
text: fatal familial insomnia
lang: en
text: p27-30
GeneType: Name: gene with protein product
Rare disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (Orphanet code 309854)
Associated genes:
Name: solute carrier family 30 member 10
Symbol: SLC30A10
Synonyms: lang: en
text: DKFZp547M236
lang: en
text: ZNT10
lang: en
text: ZNT8
lang: en
text: ZRC1
lang: en
text: Zinc transporter 8
lang: en
text: ZnT-10
lang: en
text: zinc resistance conferring homolog (S. cerevisiae)
lang: en
text: zinc transporter 10
lang: en
text: zinc transporter 8
GeneType: Name: gene with protein product
Rare disease: Rhizomelic chondrodysplasia punctata type 3 (Orphanet code 309803)
Associated genes:
Name: alkylglycerone phosphate synthase
Symbol: AGPS
Synonyms: lang: en
text: ADAP-S
lang: en
text: ADAS
lang: en
text: ADHAPS
lang: en
text: ADPS
lang: en
text: ALDHPSY
GeneType: Name: gene with protein product
Rare disease: Rhizomelic chondrodysplasia punctata type 1 (Orphanet code 309789)
Associated genes:
Name: peroxisomal biogenesis factor 7
Symbol: PEX7
Synonyms: lang: en
text: PTS2R
lang: en
text: RD
lang: en
text: Refsum disease
GeneType: Name: gene with protein product
Rare disease: Rhizomelic chondrodysplasia punctata type 2 (Orphanet code 309796)
Associated genes:
Name: glyceronephosphate O-acyltransferase
Symbol: GNPAT
Synonyms: lang: en
text: DAP-AT
lang: en
text: DAPAT
lang: en
text: DHAPAT
lang: en
text: dihydroxyacetone phosphate acyltransferase
lang: en
text: glycerone-phosphate O-acyltransferase
GeneType: Name: gene with protein product
Rare disease: High bone mass osteogenesis imperfecta (Orphanet code 314029)
Associated genes:
Name: collagen type I alpha 1 chain
Symbol: COL1A1
Synonyms: lang: en
text: OI4
GeneType: Name: gene with protein product
Name: collagen type I alpha 2 chain
Symbol: COL1A2
Synonyms: lang: en
text: alpha 2(I)-collagen
lang: en
text: alpha-2 collagen type I
lang: en
text: collagen I, alpha-2 polypeptide
lang: en
text: collagen of skin, tendon and bone, alpha-2 chain
lang: en
text: type I procollagen
GeneType: Name: gene with protein product
Name: bone morphogenetic protein 1
Symbol: BMP1
Synonyms: lang: en
text: BMP-1
lang: en
text: tolloid-like
GeneType: Name: gene with protein product
Rare disease: Gastric adenocarcinoma and proximal polyposis of the stomach (Orphanet code 314022)
Associated genes:
Name: APC regulator of WNT signaling pathway
Symbol: APC
Synonyms: lang: en
text: DP2
lang: en
text: DP2.5
lang: en
text: DP3
lang: en
text: PPP1R46
lang: en
text: protein phosphatase 1, regulatory subunit 46
GeneType: Name: gene with protein product
Rare disease: Developmental and speech delay due to SOX5 deficiency (Orphanet code 313892)
Associated genes:
Name: SRY-box transcription factor 5
Symbol: SOX5
Synonyms: lang: en
text: L-SOX5
lang: en
text: MGC35153
GeneType: Name: gene with protein product
Rare disease: 12p12.1 microdeletion syndrome (Orphanet code 313884)
Associated genes:
Name: SRY-box transcription factor 5
Symbol: SOX5
Synonyms: lang: en
text: L-SOX5
lang: en
text: MGC35153
GeneType: Name: gene with protein product
Rare disease: FGFR2-related bent bone dysplasia (Orphanet code 313855)
Associated genes:
Name: fibroblast growth factor receptor 2
Symbol: FGFR2
Synonyms: lang: en
text: CD332
lang: en
text: CEK3
lang: en
text: Crouzon syndrome
lang: en
text: ECT1
lang: en
text: K-SAM
lang: en
text: Pfeiffer syndrome
lang: en
text: TK14
lang: en
text: TK25
GeneType: Name: gene with protein product
Rare disease: Infantile cerebellar-retinal degeneration (Orphanet code 313850)
Associated genes:
Name: aconitase 2
Symbol: ACO2
Synonyms: lang: en
text: ACONM
lang: en
text: aconitate hydratase, mitochondrial
lang: en
text: mitochondrial aconitase
GeneType: Name: gene with protein product
Rare disease: Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (Orphanet code 313846)
Associated genes:
Name: ATR serine/threonine kinase
Symbol: ATR
Synonyms: lang: en
text: FRP1
lang: en
text: MEC1
lang: en
text: MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)
lang: en
text: SCKL
lang: en
text: SCKL1
GeneType: Name: gene with protein product
Rare disease: Coats plus syndrome (Orphanet code 313838)
Associated genes:
Name: CST telomere replication complex component 1
Symbol: CTC1
Synonyms: lang: en
text: AAF132
lang: en
text: FLJ22170
lang: en
text: alpha accessory factor 132
lang: en
text: conserved telomere capping protein 1
lang: en
text: conserved telomere maintenance component 1
GeneType: Name: gene with protein product
Name: STN1 subunit of CST complex
Symbol: STN1
Synonyms: lang: en
text: FLJ22559
lang: en
text: bA541N10.2
GeneType: Name: gene with protein product
Rare disease: Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome (Orphanet code 313800)
Associated genes:
Name: alpha kinase 1
Symbol: ALPK1
Synonyms: lang: en
text: FLJ22670
lang: en
text: KIAA1527
lang: en
text: Lak
lang: en
text: lymphocyte alpha-kinase
GeneType: Name: gene with protein product
Rare disease: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (Orphanet code 313808)
Associated genes:
Name: alanyl-tRNA synthetase 2, mitochondrial
Symbol: AARS2
Synonyms: lang: en
text: KIAA1270
lang: en
text: alanine tRNA ligase 2, mitochondrial
lang: en
text: bA444E17.1
GeneType: Name: gene with protein product
Name: colony stimulating factor 1 receptor
Symbol: CSF1R
Synonyms: lang: en
text: C-FMS
lang: en
text: CD115
lang: en
text: CSFR
GeneType: Name: gene with protein product
Rare disease: Jawad syndrome (Orphanet code 313795)
Associated genes:
Name: RB binding protein 8, endonuclease
Symbol: RBBP8
Synonyms: lang: en
text: COM1
lang: en
text: CTBP-interacting protein
lang: en
text: CtIP
lang: en
text: RIM
GeneType: Name: gene with protein product
Rare disease: Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome (Orphanet code 313772)
Associated genes:
Name: AFG3 like matrix AAA peptidase subunit 2
Symbol: AFG3L2
Synonyms: lang: en
text: SPAX5
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic ataxia with leukoencephalopathy (Orphanet code 314603)
Associated genes:
Name: methionyl-tRNA synthetase 2, mitochondrial
Symbol: MARS2
Synonyms: lang: en
text: Methionine tRNA ligase 2, mitochondrial
lang: en
text: SPAX3
lang: en
text: methionine tRNA ligase 2, mitochondrial
lang: en
text: mtMetRS
GeneType: Name: gene with protein product
Rare disease: Chudley-McCullough syndrome (Orphanet code 314597)
Associated genes:
Name: G protein signaling modulator 2
Symbol: GPSM2
Synonyms: lang: en
text: LGN
lang: en
text: Pins
GeneType: Name: gene with protein product
Rare disease: Young adult-onset distal hereditary motor neuropathy (Orphanet code 314485)
Associated genes:
Name: DnaJ heat shock protein family (Hsp40) member B2
Symbol: DNAJB2
Synonyms: lang: en
text: CMT2T
lang: en
text: HSPF3
GeneType: Name: gene with protein product
Name: von Willebrand factor A domain containing 1
Symbol: VWA1
Synonyms: lang: en
text: FLJ22215
lang: en
text: VWA-1
lang: en
text: WARP
GeneType: Name: gene with protein product
Rare disease: Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome (Orphanet code 314555)
Associated genes:
Name: iroquois homeobox 5
Symbol: IRX5
Synonyms: lang: en
text: IRX-2a
GeneType: Name: gene with protein product
Rare disease: Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome (Orphanet code 314394)
Associated genes:
Name: POC1 centriolar protein A
Symbol: POC1A
Synonyms: lang: en
text: DKFZP434C245
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant aplasia and myelodysplasia (Orphanet code 314399)
Associated genes:
Name: signal recognition particle 72
Symbol: SRP72
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome (Orphanet code 314404)
Associated genes:
Name: DNA methyltransferase 1
Symbol: DNMT1
Synonyms: lang: en
text: CXXC9
lang: en
text: MCMT
GeneType: Name: gene with protein product
Rare disease: Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (Orphanet code 314373)
Associated genes:
Name: guanylate cyclase 2C
Symbol: GUCY2C
Synonyms: lang: en
text: GC-C
lang: en
text: GCC
lang: en
text: Guanylyl cyclase C
lang: en
text: HSER
lang: en
text: STA receptor
lang: en
text: STAR
lang: en
text: heat stable enterotoxin receptor
GeneType: Name: gene with protein product
Rare disease: Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency (Orphanet code 314376)
Associated genes:
Name: guanylate cyclase 2C
Symbol: GUCY2C
Synonyms: lang: en
text: GC-C
lang: en
text: GCC
lang: en
text: Guanylyl cyclase C
lang: en
text: HSER
lang: en
text: STA receptor
lang: en
text: STAR
lang: en
text: heat stable enterotoxin receptor
GeneType: Name: gene with protein product
Rare disease: Hereditary sensory and autonomic neuropathy type 6 (Orphanet code 314381)
Associated genes:
Name: dystonin
Symbol: DST
Synonyms: lang: en
text: BP240
lang: en
text: BPA
lang: en
text: CATX-15
lang: en
text: FLJ13425
lang: en
text: FLJ21489
lang: en
text: FLJ30627
lang: en
text: FLJ32235
lang: en
text: KIAA0728
lang: en
text: MACF2
GeneType: Name: gene with protein product
Rare disease: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome (Orphanet code 314051)
Associated genes:
Name: glutamyl-tRNA synthetase 2, mitochondrial
Symbol: EARS2
Synonyms: lang: en
text: KIAA1970
lang: en
text: MSE1
lang: en
text: glutamate tRNA ligase 2, mitochondrial
lang: en
text: mtGlnRS
GeneType: Name: gene with protein product
Rare disease: Kufor-Rakeb syndrome (Orphanet code 306674)
Associated genes:
Name: ATPase cation transporting 13A2
Symbol: ATP13A2
Synonyms: lang: en
text: CLN12
lang: en
text: HSA9947
GeneType: Name: gene with protein product
Rare disease: Primary dystonia, DYT21 type (Orphanet code 306734)
Associated genes:
Name: dystonia 21, torsion (autosomal dominant)
Symbol: DYT21
GeneType: Name: Disorder-associated locus
Rare disease: Methylcobalamin deficiency type cblDv1 (Orphanet code 308380)
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: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A (Orphanet code 308386)
Associated genes:
Name: molybdenum cofactor synthesis 1
Symbol: MOCS1
Synonyms: lang: en
text: MOCOD
lang: en
text: MOCS1A
lang: en
text: MOCS1B
GeneType: Name: gene with protein product
Rare disease: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B (Orphanet code 308393)
Associated genes:
Name: molybdenum cofactor synthesis 2
Symbol: MOCS2
Synonyms: lang: en
text: MOCO1
lang: en
text: MOCS2A
lang: en
text: MOCS2B
lang: en
text: molybdopterin synthase catalytic subunit
lang: en
text: molybdopterin synthase large subunit
lang: en
text: molybdopterin synthase small subunit
GeneType: Name: gene with protein product