TaoMedAI/RareMedData huggingface dataset:
Rare disease: Congenital non-communicating hydrocephalus (Orphanet code 269510)
Associated genes:
Name: coiled-coil domain containing 88C
Symbol: CCDC88C
Synonyms: lang: en
text: DAPLE
lang: en
text: Dvl-associating protein with a high frequency of leucine residues
lang: en
text: HkRP2
lang: en
text: SCA40
lang: en
text: spinocerebellar ataxia 40
GeneType: Name: gene with protein product
Rare disease: Intellectual disability-developmental delay-contractures syndrome (Orphanet code 3454)
Associated genes:
Name: zinc finger C4H2-type containing
Symbol: ZC4H2
Synonyms: lang: en
text: HCA127
GeneType: Name: gene with protein product
Rare disease: Wiedemann-Rautenstrauch syndrome (Orphanet code 3455)
Associated genes:
Name: RNA polymerase III subunit A
Symbol: POLR3A
Synonyms: lang: en
text: C160
lang: en
text: RPC1
lang: en
text: RPC155
lang: en
text: hRPC155
GeneType: Name: gene with protein product
Rare disease: Congenital communicating hydrocephalus (Orphanet code 269505)
Associated genes:
Name: tripartite motif containing 71
Symbol: TRIM71
Synonyms: lang: en
text: LIN-41
lang: en
text: LIN41
GeneType: Name: gene with protein product
Name: multiple PDZ domain crumbs cell polarity complex component
Symbol: MPDZ
Synonyms: lang: en
text: MUPP1
GeneType: Name: gene with protein product
Rare disease: Isolated Dandy-Walker malformation without hydrocephalus (Orphanet code 269215)
Associated genes:
Name: Zic family member 4
Symbol: ZIC4
GeneType: Name: gene with protein product
Name: nidogen 1
Symbol: NID1
Synonyms: lang: en
text: entactin
GeneType: Name: gene with protein product
Name: Zic family member 1
Symbol: ZIC1
Synonyms: lang: en
text: ZIC
lang: en
text: ZNF201
GeneType: Name: gene with protein product
Rare disease: Isolated Dandy-Walker malformation with hydrocephalus (Orphanet code 269212)
Associated genes:
Name: Zic family member 1
Symbol: ZIC1
Synonyms: lang: en
text: ZIC
lang: en
text: ZNF201
GeneType: Name: gene with protein product
Name: Zic family member 4
Symbol: ZIC4
GeneType: Name: gene with protein product
Rare disease: Spondyloperipheral dysplasia-short ulna syndrome (Orphanet code 1856)
Associated genes:
Name: collagen type II alpha 1 chain
Symbol: COL2A1
Synonyms: lang: en
text: STL1
GeneType: Name: gene with protein product
Rare disease: Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 (Orphanet code 280333)
Associated genes:
Name: dystroglycan 1
Symbol: DAG1
Synonyms: lang: en
text: 156DAG
lang: en
text: A3a
lang: en
text: AGRNR
lang: en
text: DAG
lang: en
text: alpha-dystroglycan
lang: en
text: beta-dystroglycan
lang: en
text: dystrophin-associated glycoprotein-1
GeneType: Name: gene with protein product
Rare disease: Distal deletion 12p (Orphanet code 280325)
Associated genes:
Name: ELKS/RAB6-interacting/CAST family member 1
Symbol: ERC1
Synonyms: lang: en
text: CAST2
lang: en
text: ELKS
lang: en
text: KIAA1081
lang: en
text: MGC12974
GeneType: Name: gene with protein product
Rare disease: Pelizaeus-Merzbacher-like disease due to AIMP1 mutation (Orphanet code 280293)
Associated genes:
Name: aminoacyl tRNA synthetase complex interacting multifunctional protein 1
Symbol: AIMP1
Synonyms: lang: en
text: ARS-interacting multifunctional protein 1
lang: en
text: EMAP II
lang: en
text: EMAP-2
lang: en
text: EMAPII
lang: en
text: multisynthetase complex auxiliary component p43
lang: en
text: p43
GeneType: Name: gene with protein product
Rare disease: Pelizaeus-Merzbacher-like disease due to HSPD1 mutation (Orphanet code 280288)
Associated genes:
Name: heat shock protein family D (Hsp60) member 1
Symbol: HSPD1
Synonyms: lang: en
text: GROEL
lang: en
text: GroEL
lang: en
text: HSP60
GeneType: Name: gene with protein product
Rare disease: Autosomal semi-dominant severe lipodystrophic laminopathy (Orphanet code 280365)
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: Hereditary hyperekplexia (Orphanet code 3197)
Associated genes:
Name: ATPase family AAA domain containing 1
Symbol: ATAD1
Synonyms: lang: en
text: FLJ14600
lang: en
text: Msp1
lang: en
text: Outer mitochondrial transmembrane helix translocase
lang: en
text: thorase
GeneType: Name: gene with protein product
Name: glycine receptor alpha 1
Symbol: GLRA1
Synonyms: lang: en
text: stiff person syndrome
GeneType: Name: gene with protein product
Name: glycine receptor beta
Symbol: GLRB
GeneType: Name: gene with protein product
Name: gephyrin
Symbol: GPHN
Synonyms: lang: en
text: GEPH
lang: en
text: GPH
lang: en
text: KIAA1385
GeneType: Name: gene with protein product
Name: solute carrier family 6 member 5
Symbol: SLC6A5
Synonyms: lang: en
text: GLYT2
lang: en
text: GlyT-2
lang: en
text: Sodium- and chloride-dependent glycine transporter 2
lang: en
text: glycine transporter 2
GeneType: Name: gene with protein product
Rare disease: Supravalvular aortic stenosis (Orphanet code 3193)
Associated genes:
Name: elastin
Symbol: ELN
Synonyms: lang: en
text: SVAS
lang: en
text: WBS
lang: en
text: WS
lang: en
text: Williams-Beuren syndrome
lang: en
text: supravalvular aortic stenosis
lang: en
text: tropoelastin
GeneType: Name: gene with protein product
Rare disease: PLIN1-related familial partial lipodystrophy (Orphanet code 280356)
Associated genes:
Name: perilipin 1
Symbol: PLIN1
GeneType: Name: gene with protein product
Rare disease: Familial steroid-resistant nephrotic syndrome with sensorineural deafness (Orphanet code 280406)
Associated genes:
Name: coenzyme Q6, monooxygenase
Symbol: COQ6
Synonyms: lang: en
text: CGI-10
GeneType: Name: gene with protein product
Rare disease: Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome (Orphanet code 280384)
Associated genes:
Name: ER lipid raft associated 2
Symbol: ERLIN2
Synonyms: lang: en
text: Erlin-2
lang: en
text: NET32
GeneType: Name: gene with protein product
Rare disease: Familial Alzheimer-like prion disease (Orphanet code 280397)
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: Nestor-Guillermo progeria syndrome (Orphanet code 280576)
Associated genes:
Name: BAF nuclear assembly factor 1
Symbol: BANF1
Synonyms: lang: en
text: BAF
GeneType: Name: gene with protein product
Rare disease: Deafness-enamel hypoplasia-nail defects syndrome (Orphanet code 3220)
Associated genes:
Name: peroxisomal biogenesis factor 1
Symbol: PEX1
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 6
Symbol: PEX6
Synonyms: lang: en
text: PAF-2
lang: en
text: PXAAA1
GeneType: Name: gene with protein product
Rare disease: Chondrodysplasia with joint dislocations, gPAPP type (Orphanet code 280586)
Associated genes:
Name: 3'(2'), 5'-bisphosphate nucleotidase 2
Symbol: BPNT2
Synonyms: lang: en
text: FLJ20421
lang: en
text: Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase
lang: en
text: IMPA3
lang: en
text: gPAPP
lang: en
text: golgi-resident nucleotide phosphatase
GeneType: Name: gene with protein product
Rare disease: Fatal infantile hypertonic myofibrillar myopathy (Orphanet code 280553)
Associated genes:
Name: crystallin alpha B
Symbol: CRYAB
Synonyms: lang: en
text: HSPB5
GeneType: Name: gene with protein product
Rare disease: Warsaw breakage syndrome (Orphanet code 280558)
Associated genes:
Name: DEAD/H-box helicase 11
Symbol: DDX11
Synonyms: lang: en
text: CHL1
lang: en
text: CHL1-like helicase homolog (S. cerevisiae)
lang: en
text: CHLR1
lang: en
text: ChlR1
lang: en
text: KRG-2
lang: en
text: KRG2
lang: en
text: Keratinocyte growth factor-regulated gene 2
lang: en
text: WABS
lang: en
text: Warsaw Breakage Syndrome
GeneType: Name: gene with protein product
Rare disease: Nijmegen breakage syndrome (Orphanet code 647)
Associated genes:
Name: nibrin
Symbol: NBN
Synonyms: lang: en
text: AT-V1
lang: en
text: AT-V2
lang: en
text: ATV
GeneType: Name: gene with protein product
Rare disease: Hereditary neutrophilia (Orphanet code 279943)
Associated genes:
Name: colony stimulating factor 3 receptor
Symbol: CSF3R
Synonyms: lang: en
text: G-CSF-R
lang: en
text: GCSFR
lang: en
text: granulocyte colony-stimulating factor receptor
GeneType: Name: gene with protein product
Rare disease: Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency (Orphanet code 279934)
Associated genes:
Name: deoxyguanosine kinase
Symbol: DGUOK
Synonyms: lang: en
text: dGK
GeneType: Name: gene with protein product
Rare disease: Sclerosteosis (Orphanet code 3152)
Associated genes:
Name: sclerostin
Symbol: SOST
Synonyms: lang: en
text: DAND6
lang: en
text: VBCH
GeneType: Name: gene with protein product
Name: LDL receptor related protein 4
Symbol: LRP4
Synonyms: lang: en
text: CLSS
lang: en
text: LRP-4
lang: en
text: MEGF7
lang: en
text: SOST2
lang: en
text: multiple EGF like domains 7
GeneType: Name: gene with protein product
Rare disease: Severe combined immunodeficiency due to LCK deficiency (Orphanet code 280142)
Associated genes:
Name: LCK proto-oncogene, Src family tyrosine kinase
Symbol: LCK
GeneType: Name: gene with protein product
Rare disease: Complement component 3 deficiency (Orphanet code 280133)
Associated genes:
Name: complement C3
Symbol: C3
Synonyms: lang: en
text: ARMD9
lang: en
text: C3a
lang: en
text: C3a anaphylatoxin
lang: en
text: C3b
lang: en
text: CPAMD1
lang: en
text: complement component C3a
lang: en
text: complement component C3b
lang: en
text: prepro-C3
GeneType: Name: gene with protein product
Rare disease: SHORT syndrome (Orphanet code 3163)
Associated genes:
Name: phosphoinositide-3-kinase regulatory subunit 1
Symbol: PIK3R1
Synonyms: lang: en
text: GRB1
lang: en
text: PI3 kinase-associated p85
lang: en
text: growth factor receptor bound 1
lang: en
text: p85
lang: en
text: p85-ALPHA
lang: en
text: p85alpha
lang: en
text: phosphoinositide-3-kinase regulatory subunit alpha
GeneType: Name: gene with protein product
Rare disease: Atrial septal defect-atrioventricular conduction defects syndrome (Orphanet code 1479)
Associated genes:
Name: NK2 homeobox 5
Symbol: NKX2-5
Synonyms: lang: en
text: CSX1
lang: en
text: NKX2.5
lang: en
text: NKX4-1
lang: en
text: tinman (Drosophila) homolog
lang: en
text: tinman paralog (Drosophila)
GeneType: Name: gene with protein product
Rare disease: Senior-Loken syndrome (Orphanet code 3156)
Associated genes:
Name: centrosomal protein 290
Symbol: CEP290
Synonyms: lang: en
text: 3H11Ag
lang: en
text: BBS14
lang: en
text: Bardet-Biedl syndrome 14
lang: en
text: CT87
lang: en
text: FLJ13615
lang: en
text: JBTS5
lang: en
text: Joubert syndrome 5
lang: en
text: KIAA0373
lang: en
text: LCA10
lang: en
text: MKS4
lang: en
text: Meckel syndrome, type 4
lang: en
text: NPHP6
lang: en
text: POC3
lang: en
text: POC3 centriolar protein homolog (Chlamydomonas)
lang: en
text: SLSN6
lang: en
text: cancer/testis antigen 87
lang: en
text: nephrocystin-6
lang: en
text: rd16
GeneType: Name: gene with protein product
Name: inversin
Symbol: INVS
Synonyms: lang: en
text: nephrocystin 2
GeneType: Name: gene with protein product
Name: IQ motif containing B1
Symbol: IQCB1
Synonyms: lang: en
text: KIAA0036
lang: en
text: NPHP5
lang: en
text: SLSN5
lang: en
text: nephrocystin-5
GeneType: Name: gene with protein product
Name: nephrocystin 1
Symbol: NPHP1
Synonyms: lang: en
text: JBTS4
lang: en
text: SLSN1
GeneType: Name: gene with protein product
Name: nephrocystin 3
Symbol: NPHP3
Synonyms: lang: en
text: CFAP31
lang: en
text: FLJ30691
lang: en
text: FLJ36696
lang: en
text: KIAA2000
lang: en
text: MKS7
lang: en
text: Meckel syndrome, type 7
lang: en
text: NPH3
lang: en
text: SLSN3
lang: en
text: cilia and flagella associated protein 31
GeneType: Name: gene with protein product
Name: nephrocystin 4
Symbol: NPHP4
Synonyms: lang: en
text: KIAA0673
lang: en
text: POC10
lang: en
text: POC10 centriolar protein homolog (Chlamydomonas)
lang: en
text: SLSN4
lang: en
text: nephroretinin
GeneType: Name: gene with protein product
Name: SHH signaling and ciliogenesis regulator SDCCAG8
Symbol: SDCCAG8
Synonyms: lang: en
text: BBS16
lang: en
text: Bardet-Biedl syndrome 16
lang: en
text: CCCAP
lang: en
text: NPHP10
lang: en
text: NY-CO-8
lang: en
text: SLSN7
lang: en
text: Senior-Loken syndrome 7
lang: en
text: centrosomal colon cancer autoantigen protein
lang: en
text: nephrocystin 10
GeneType: Name: gene with protein product
Name: WD repeat domain 19
Symbol: WDR19
Synonyms: lang: en
text: CFAP66
lang: en
text: DYF-2
lang: en
text: FAP66
lang: en
text: FLJ23127
lang: en
text: IFT144
lang: en
text: KIAA1638
lang: en
text: NPHP13
lang: en
text: ORF26
lang: en
text: Oseg6
lang: en
text: Pwdmp
lang: en
text: intraflagellar transport 144 homolog (Chlamydomonas)
GeneType: Name: gene with protein product
Name: centrosomal protein 164
Symbol: CEP164
Synonyms: lang: en
text: KIAA1052
lang: en
text: NPHP15
GeneType: Name: gene with protein product
Name: TRAF3 interacting protein 1
Symbol: TRAF3IP1
Synonyms: lang: en
text: CFAP116
lang: en
text: DKFZP434F124
lang: en
text: FAP116
lang: en
text: IFT54
lang: en
text: MIP-T3
lang: en
text: MIPT3
lang: en
text: microtubule interacting protein that associates with TRAF3
GeneType: Name: gene with protein product
Rare disease: ALG11-CDG (Orphanet code 280071)
Associated genes:
Name: ALG11 alpha-1,2-mannosyltransferase
Symbol: ALG11
Synonyms: lang: en
text: CDG1P
lang: en
text: GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase
lang: en
text: KIAA0266
GeneType: Name: gene with protein product
Rare disease: Septo-optic dysplasia spectrum (Orphanet code 3157)
Associated genes:
Name: prokineticin receptor 2
Symbol: PROKR2
Synonyms: lang: en
text: GPR73b
lang: en
text: GPRg2
lang: en
text: PKR2
lang: en
text: dJ680N4.3
GeneType: Name: gene with protein product
Name: SRY-box transcription factor 2
Symbol: SOX2
GeneType: Name: gene with protein product
Name: fibroblast growth factor receptor 1
Symbol: FGFR1
Synonyms: lang: en
text: BFGFR
lang: en
text: CD331
lang: en
text: CEK
lang: en
text: FLG
lang: en
text: H2
lang: en
text: H3
lang: en
text: H4
lang: en
text: H5
lang: en
text: N-SAM
lang: en
text: Pfeiffer syndrome
GeneType: Name: gene with protein product
Name: HESX homeobox 1
Symbol: HESX1
Synonyms: lang: en
text: ANF
lang: en
text: RPX
lang: en
text: Rathke's pouch homeobox
GeneType: Name: gene with protein product
Name: orthodenticle homeobox 2
Symbol: OTX2
GeneType: Name: gene with protein product
Name: SRY-box transcription factor 3
Symbol: SOX3
GeneType: Name: gene with protein product
Name: aryl hydrocarbon receptor nuclear translocator 2
Symbol: ARNT2
Synonyms: lang: en
text: KIAA0307
lang: en
text: bHLHe1
GeneType: Name: gene with protein product
Rare disease: Pelizaeus-Merzbacher disease, connatal form (Orphanet code 280210)
Associated genes:
Name: proteolipid protein 1
Symbol: PLP1
Synonyms: lang: en
text: GPM6C
lang: en
text: Pelizaeus-Merzbacher disease
GeneType: Name: gene with protein product
Rare disease: Pelizaeus-Merzbacher disease, classic form (Orphanet code 280219)
Associated genes:
Name: proteolipid protein 1
Symbol: PLP1
Synonyms: lang: en
text: GPM6C
lang: en
text: Pelizaeus-Merzbacher disease
GeneType: Name: gene with protein product
Rare disease: Microform holoprosencephaly (Orphanet code 280200)
Associated genes:
Name: fibroblast growth factor receptor 1
Symbol: FGFR1
Synonyms: lang: en
text: BFGFR
lang: en
text: CD331
lang: en
text: CEK
lang: en
text: FLG
lang: en
text: H2
lang: en
text: H3
lang: en
text: H4
lang: en
text: H5
lang: en
text: N-SAM
lang: en
text: Pfeiffer syndrome
GeneType: Name: gene with protein product
Name: SUFU negative regulator of hedgehog signaling
Symbol: SUFU
Synonyms: lang: en
text: PRO1280
lang: en
text: SUFUH
lang: en
text: SUFUXL
GeneType: Name: gene with protein product
Name: patched 1
Symbol: PTCH1
Synonyms: lang: en
text: BCNS
GeneType: Name: gene with protein product
Name: SIX homeobox 3
Symbol: SIX3
GeneType: Name: gene with protein product
Name: TGFB induced factor homeobox 1
Symbol: TGIF1
GeneType: Name: gene with protein product
Name: Zic family member 2
Symbol: ZIC2
Synonyms: lang: en
text: HPE5
lang: en
text: Zinc finger protein of the cerebellum 2
GeneType: Name: gene with protein product
Name: GLI family zinc finger 2
Symbol: GLI2
Synonyms: lang: en
text: HPE9
lang: en
text: THP1
lang: en
text: THP2
lang: en
text: tax helper protein 1
lang: en
text: tax helper protein 2
lang: en
text: tax-responsive element-2 holding protein
GeneType: Name: gene with protein product
Name: cripto, EGF-CFC family member
Symbol: CRIPTO
Synonyms: lang: en
text: CR
lang: en
text: CR-1
lang: en
text: Cripto-1
GeneType: Name: gene with protein product
Name: forkhead box H1
Symbol: FOXH1
Synonyms: lang: en
text: FAST1
lang: en
text: forkhead activin signal transducer-1
GeneType: Name: gene with protein product
Name: fibroblast growth factor 8
Symbol: FGF8
Synonyms: lang: en
text: AIGF
lang: en
text: androgen-induced growth factor
GeneType: Name: gene with protein product
Name: dispatched RND transporter family member 1
Symbol: DISP1
Synonyms: lang: en
text: DISPA
lang: en
text: DKFZP434I0428
lang: en
text: MGC13130
lang: en
text: MGC16796
GeneType: Name: gene with protein product
Name: cell adhesion associated, oncogene regulated
Symbol: CDON
Synonyms: lang: en
text: CDO
lang: en
text: CDON1
lang: en
text: Ihog
lang: en
text: ORCAM
lang: en
text: cell adhesion molecule-related/down-regulated by oncogenes
GeneType: Name: gene with protein product
Name: nodal growth differentiation factor
Symbol: NODAL
GeneType: Name: gene with protein product
Name: delta like canonical Notch ligand 1
Symbol: DLL1
GeneType: Name: gene with protein product
Name: growth arrest specific 1
Symbol: GAS1
Synonyms: lang: en
text: Growth arrest-specific gene-1
GeneType: Name: gene with protein product
Name: sonic hedgehog signaling molecule
Symbol: SHH
Synonyms: lang: en
text: HHG1
lang: en
text: MCOPCB5
lang: en
text: SMMCI
lang: en
text: TPT
lang: en
text: TPTPS
GeneType: Name: gene with protein product
Rare disease: X-linked spasticity-intellectual disability-epilepsy syndrome (Orphanet code 3175)
Associated genes:
Name: aristaless related homeobox
Symbol: ARX
Synonyms: lang: en
text: CT121
lang: en
text: EIEE1
lang: en
text: ISSX
lang: en
text: cancer/testis antigen 121
GeneType: Name: gene with protein product
Rare disease: Septopreoptic holoprosencephaly (Orphanet code 280195)
Associated genes:
Name: STIL centriolar assembly protein
Symbol: STIL
Synonyms: lang: en
text: MCPH7
GeneType: Name: gene with protein product
Name: patched 1
Symbol: PTCH1
Synonyms: lang: en
text: BCNS
GeneType: Name: gene with protein product
Name: sonic hedgehog signaling molecule
Symbol: SHH
Synonyms: lang: en
text: HHG1
lang: en
text: MCOPCB5
lang: en
text: SMMCI
lang: en
text: TPT
lang: en
text: TPTPS
GeneType: Name: gene with protein product
Name: SIX homeobox 3
Symbol: SIX3
GeneType: Name: gene with protein product
Name: TGFB induced factor homeobox 1
Symbol: TGIF1
GeneType: Name: gene with protein product
Name: Zic family member 2
Symbol: ZIC2
Synonyms: lang: en
text: HPE5
lang: en
text: Zinc finger protein of the cerebellum 2
GeneType: Name: gene with protein product
Name: GLI family zinc finger 2
Symbol: GLI2
Synonyms: lang: en
text: HPE9
lang: en
text: THP1
lang: en
text: THP2
lang: en
text: tax helper protein 1
lang: en
text: tax helper protein 2
lang: en
text: tax-responsive element-2 holding protein
GeneType: Name: gene with protein product
Name: cripto, EGF-CFC family member
Symbol: CRIPTO
Synonyms: lang: en
text: CR
lang: en
text: CR-1
lang: en
text: Cripto-1
GeneType: Name: gene with protein product
Name: forkhead box H1
Symbol: FOXH1
Synonyms: lang: en
text: FAST1
lang: en
text: forkhead activin signal transducer-1
GeneType: Name: gene with protein product
Name: fibroblast growth factor 8
Symbol: FGF8
Synonyms: lang: en
text: AIGF
lang: en
text: androgen-induced growth factor
GeneType: Name: gene with protein product
Name: dispatched RND transporter family member 1
Symbol: DISP1
Synonyms: lang: en
text: DISPA
lang: en
text: DKFZP434I0428
lang: en
text: MGC13130
lang: en
text: MGC16796
GeneType: Name: gene with protein product
Name: cell adhesion associated, oncogene regulated
Symbol: CDON
Synonyms: lang: en
text: CDO
lang: en
text: CDON1
lang: en
text: Ihog
lang: en
text: ORCAM
lang: en
text: cell adhesion molecule-related/down-regulated by oncogenes
GeneType: Name: gene with protein product
Name: nodal growth differentiation factor
Symbol: NODAL
GeneType: Name: gene with protein product
Name: delta like canonical Notch ligand 1
Symbol: DLL1
GeneType: Name: gene with protein product
Name: growth arrest specific 1
Symbol: GAS1
Synonyms: lang: en
text: Growth arrest-specific gene-1
GeneType: Name: gene with protein product
Rare disease: Methylmalonic aciduria due to transcobalamin receptor defect (Orphanet code 280183)
Associated genes:
Name: CD320 molecule
Symbol: CD320
Synonyms: lang: en
text: 8D6
lang: en
text: 8D6 antigen
lang: en
text: 8D6A
lang: en
text: TCII-R
lang: en
text: TCN2R
lang: en
text: TCblR
lang: en
text: Transcobalamin receptor
lang: en
text: sCD320
lang: en
text: soluble CD320
lang: en
text: transcobalamin 2 receptor
GeneType: Name: gene with protein product
Rare disease: Pelizaeus-Merzbacher-like disease due to GJC2 mutation (Orphanet code 280282)
Associated genes:
Name: gap junction protein gamma 2
Symbol: GJC2
Synonyms: lang: en
text: CX46.6
lang: en
text: CX47
lang: en
text: SPG44
lang: en
text: connexin 47
GeneType: Name: gene with protein product
Rare disease: Pelizaeus-Merzbacher-like disease (Orphanet code 280270)
Associated genes:
Name: mal, T cell differentiation protein
Symbol: MAL
Synonyms: lang: en
text: MVP17
lang: en
text: VIP17
lang: en
text: myelin and lymphocyte protein
GeneType: Name: gene with protein product
Rare disease: Null syndrome (Orphanet code 280234)
Associated genes:
Name: proteolipid protein 1
Symbol: PLP1
Synonyms: lang: en
text: GPM6C
lang: en
text: Pelizaeus-Merzbacher disease
GeneType: Name: gene with protein product
Rare disease: Spondyloenchondrodysplasia (Orphanet code 1855)
Associated genes:
Name: acid phosphatase 5, tartrate resistant
Symbol: ACP5
Synonyms: lang: en
text: HPAP
lang: en
text: TRAP
lang: en
text: TRAcP
lang: en
text: human purple acid phosphatase
lang: en
text: tartrate-resistant acid phosphatase
GeneType: Name: gene with protein product
Rare disease: Pelizaeus-Merzbacher disease, transitional form (Orphanet code 280224)
Associated genes:
Name: proteolipid protein 1
Symbol: PLP1
Synonyms: lang: en
text: GPM6C
lang: en
text: Pelizaeus-Merzbacher disease
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant spondylocostal dysostosis (Orphanet code 1797)
Associated genes:
Name: T-box transcription factor 6
Symbol: TBX6
GeneType: Name: gene with protein product
Rare disease: Pelizaeus-Merzbacher disease in female carriers (Orphanet code 280229)
Associated genes:
Name: proteolipid protein 1
Symbol: PLP1
Synonyms: lang: en
text: GPM6C
lang: en
text: Pelizaeus-Merzbacher disease
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (Orphanet code 276580)
Associated genes:
Name: potassium inwardly rectifying channel subfamily J member 11
Symbol: KCNJ11
Synonyms: lang: en
text: ATP-sensitive inward rectifier potassium channel 11
lang: en
text: BIR
lang: en
text: Kir6.2
lang: en
text: beta-cell inward rectifier
GeneType: Name: gene with protein product
Rare disease: Cenani-Lenz syndrome (Orphanet code 3258)
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
Name: LDL receptor related protein 4
Symbol: LRP4
Synonyms: lang: en
text: CLSS
lang: en
text: LRP-4
lang: en
text: MEGF7
lang: en
text: SOST2
lang: en
text: multiple EGF like domains 7
GeneType: Name: gene with protein product