TaoMedAI/RareMedData huggingface dataset:
Rare disease: Familial hypocalciuric hypercalcemia type 1 (Orphanet code 93372)
Associated genes:
Name: calcium sensing receptor
Symbol: CASR
Synonyms: lang: en
text: FHH
lang: en
text: GPRC2A
lang: en
text: NSHPT
lang: en
text: severe neonatal hyperparathyroidism
GeneType: Name: gene with protein product
Rare disease: Brachydactyly type E (Orphanet code 93387)
Associated genes:
Name: homeobox D13
Symbol: HOXD13
Synonyms: lang: en
text: synpolydactyly
GeneType: Name: gene with protein product
Name: parathyroid hormone like hormone
Symbol: PTHLH
Synonyms: lang: en
text: HHM
lang: en
text: PLP
lang: en
text: PTHR
lang: en
text: PTHRP
lang: en
text: osteostatin
lang: en
text: parathyroid hormone-like hormone preproprotein
lang: en
text: parathyroid hormone-related protein preproprotein
GeneType: Name: gene with protein product
Rare disease: Brachydactyly type A1 (Orphanet code 93388)
Associated genes:
Name: bone morphogenetic protein receptor type 1B
Symbol: BMPR1B
Synonyms: lang: en
text: ALK6
lang: en
text: CDw293
GeneType: Name: gene with protein product
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
Name: Indian hedgehog signaling molecule
Symbol: IHH
Synonyms: lang: en
text: BDA1
lang: en
text: HHG2
GeneType: Name: gene with protein product
Rare disease: Brachydactyly type C (Orphanet code 93384)
Associated genes:
Name: bone morphogenetic protein receptor type 1B
Symbol: BMPR1B
Synonyms: lang: en
text: ALK6
lang: en
text: CDw293
GeneType: Name: gene with protein product
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
Rare disease: Brachydactyly type A2 (Orphanet code 93396)
Associated genes:
Name: bone morphogenetic protein 2
Symbol: BMP2
GeneType: Name: gene with protein product
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
Name: bone morphogenetic protein receptor type 1B
Symbol: BMPR1B
Synonyms: lang: en
text: ALK6
lang: en
text: CDw293
GeneType: Name: gene with protein product
Rare disease: FG syndrome type 1 (Orphanet code 93932)
Associated genes:
Name: mediator complex subunit 12
Symbol: MED12
Synonyms: lang: en
text: ARC240
lang: en
text: CAGH45
lang: en
text: HOPA
lang: en
text: KIAA0192
lang: en
text: Kohtalo homolog
lang: en
text: Kto
lang: en
text: OKS
lang: en
text: OPA1
lang: en
text: TRAP230
GeneType: Name: gene with protein product
Rare disease: Bladder exstrophy (Orphanet code 93930)
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
Name: ISL LIM homeobox 1
Symbol: ISL1
Synonyms: lang: en
text: ISLET1
lang: en
text: Isl-1
GeneType: Name: gene with protein product
Rare disease: Midline interhemispheric variant of holoprosencephaly (Orphanet code 93926)
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: Lobar holoprosencephaly (Orphanet code 93924)
Associated genes:
Name: STIL centriolar assembly protein
Symbol: STIL
Synonyms: lang: en
text: MCPH7
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: 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: Alobar holoprosencephaly (Orphanet code 93925)
Associated genes:
Name: STIL centriolar assembly protein
Symbol: STIL
Synonyms: lang: en
text: MCPH7
GeneType: Name: gene with protein product
Name: phospholipase C eta 1
Symbol: PLCH1
Synonyms: lang: en
text: 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1
lang: en
text: DKFZp434C1372
lang: en
text: KIAA1069
lang: en
text: MGC117152
lang: en
text: PLCeta1
GeneType: Name: gene with protein product
Name: STAG2 cohesin complex component
Symbol: STAG2
Synonyms: lang: en
text: Cohesin subunit SA-2
lang: en
text: SA-2
lang: en
text: SA2
lang: en
text: SA2 stromalin
lang: en
text: SCC3B
lang: en
text: sister chromatid cohesion 3 homolog (S. cerevisiae) B
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: Full schwannomatosis (Orphanet code 93921)
Associated genes:
Name: NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
Symbol: NF2
Synonyms: lang: en
text: ACN
lang: en
text: BANF
lang: en
text: Merlin
lang: en
text: SCH
lang: en
text: bilateral acoustic neurofibromatosis
lang: en
text: merlin
lang: en
text: merlin-1
lang: en
text: moesin-ezrin-radixin like
lang: en
text: schwannomin
GeneType: Name: gene with protein product
Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Symbol: SMARCB1
Synonyms: lang: en
text: BAF47
lang: en
text: INI-1
lang: en
text: Ini1
lang: en
text: PPP1R144
lang: en
text: RDT
lang: en
text: SNF5
lang: en
text: Sfh1p
lang: en
text: Snr1
lang: en
text: hSNFS
lang: en
text: integrase interactor 1
lang: en
text: malignant rhabdoid tumor suppressor
lang: en
text: protein phosphatase 1, regulatory subunit 144
lang: en
text: sucrose nonfermenting, yeast, homolog-like 1
GeneType: Name: gene with protein product
Name: coenzyme Q6, monooxygenase
Symbol: COQ6
Synonyms: lang: en
text: CGI-10
GeneType: Name: gene with protein product
Name: leucine zipper like post translational regulator 1
Symbol: LZTR1
Synonyms: lang: en
text: BTBD29
lang: en
text: LZTR-1
GeneType: Name: gene with protein product
Rare disease: X-linked intellectual disability, Hedera type (Orphanet code 93952)
Associated genes:
Name: ATPase H+ transporting accessory protein 2
Symbol: ATP6AP2
Synonyms: lang: en
text: APT6M8-9
lang: en
text: ATP6M8-9
lang: en
text: M8-9
lang: en
text: PRR
lang: en
text: RENR
lang: en
text: V-ATPase M8.9 subunit
lang: en
text: prorenin receptor
lang: en
text: renin receptor
GeneType: Name: gene with protein product
Rare disease: Atypical Timothy syndrome (Orphanet code 595109)
Associated genes:
Name: calcium voltage-gated channel subunit alpha1 C
Symbol: CACNA1C
Synonyms: lang: en
text: CACH2
lang: en
text: CACN2
lang: en
text: Cav1.2
lang: en
text: LQT8
lang: en
text: TS
GeneType: Name: gene with protein product
Rare disease: X-linked intellectual disability, Sutherland-Haan type (Orphanet code 93950)
Associated genes:
Name: polyglutamine binding protein 1
Symbol: PQBP1
GeneType: Name: gene with protein product
Rare disease: Timothy syndrome type 1 (Orphanet code 595098)
Associated genes:
Name: calcium voltage-gated channel subunit alpha1 C
Symbol: CACNA1C
Synonyms: lang: en
text: CACH2
lang: en
text: CACN2
lang: en
text: Cav1.2
lang: en
text: LQT8
lang: en
text: TS
GeneType: Name: gene with protein product
Rare disease: X-linked intellectual disability, Golabi-Ito-Hall type (Orphanet code 93947)
Associated genes:
Name: polyglutamine binding protein 1
Symbol: PQBP1
GeneType: Name: gene with protein product
Rare disease: Timothy syndrome type 2 (Orphanet code 595105)
Associated genes:
Name: calcium voltage-gated channel subunit alpha1 C
Symbol: CACNA1C
Synonyms: lang: en
text: CACH2
lang: en
text: CACN2
lang: en
text: Cav1.2
lang: en
text: LQT8
lang: en
text: TS
GeneType: Name: gene with protein product
Rare disease: Hamel cerebro-palato-cardiac syndrome (Orphanet code 93946)
Associated genes:
Name: polyglutamine binding protein 1
Symbol: PQBP1
GeneType: Name: gene with protein product
Rare disease: X-linked intellectual disability, Porteous type (Orphanet code 93945)
Associated genes:
Name: polyglutamine binding protein 1
Symbol: PQBP1
GeneType: Name: gene with protein product
Rare disease: Hemoglobin H disease (Orphanet code 93616)
Associated genes:
Name: hemoglobin subunit alpha 2
Symbol: HBA2
Synonyms: lang: en
text: HBA-T2
GeneType: Name: gene with protein product
Name: hemoglobin subunit alpha 1
Symbol: HBA1
Synonyms: lang: en
text: HBA-T3
GeneType: Name: gene with protein product
Rare disease: Dent disease type 1 (Orphanet code 93622)
Associated genes:
Name: chloride voltage-gated channel 5
Symbol: CLCN5
Synonyms: lang: en
text: CLC5
lang: en
text: ClC-5
lang: en
text: DENTS
lang: en
text: Dent disease
lang: en
text: XLRH
lang: en
text: XRN
lang: en
text: hCIC-K2
lang: en
text: hClC-K2
GeneType: Name: gene with protein product
Rare disease: Dent disease type 2 (Orphanet code 93623)
Associated genes:
Name: OCRL inositol polyphosphate-5-phosphatase
Symbol: OCRL
Synonyms: lang: en
text: Dent disease 2
lang: en
text: Dent-2
lang: en
text: OCRL1
GeneType: Name: gene with protein product
Rare disease: Infantile nephronophthisis (Orphanet code 93591)
Associated genes:
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: inversin
Symbol: INVS
Synonyms: lang: en
text: nephrocystin 2
GeneType: Name: gene with protein product
Name: NIMA related kinase 8
Symbol: NEK8
Synonyms: lang: en
text: NPHP9
GeneType: Name: gene with protein product
Name: tetratricopeptide repeat domain 21B
Symbol: TTC21B
Synonyms: lang: en
text: CFAP60
lang: en
text: FAP60
lang: en
text: FLA17
lang: en
text: FLJ11457
lang: en
text: IFT139
lang: en
text: IFT139B
lang: en
text: JBTS11
lang: en
text: NPHP12
lang: en
text: Nephronophthisis type12
lang: en
text: THM1
lang: en
text: intraflagellar transport 139 homolog
lang: en
text: tetratricopeptide repeat-containing hedgehog modulator-1
GeneType: Name: gene with protein product
Name: ankyrin repeat and sterile alpha motif domain containing 6
Symbol: ANKS6
Synonyms: lang: en
text: FLJ36928
lang: en
text: NPHP16
GeneType: Name: gene with protein product
Name: centrosomal protein 83
Symbol: CEP83
Synonyms: lang: en
text: NPHP18
lang: en
text: NY-REN-58
GeneType: Name: gene with protein product
Name: zinc finger protein 423
Symbol: ZNF423
Synonyms: lang: en
text: Early B-cell factor associated zinc finger protein
lang: en
text: Ebfaz
lang: en
text: JBTS19
lang: en
text: KIAA0760
lang: en
text: NPHP14
lang: en
text: OAZ
lang: en
text: OLF-1/EBF associated zinc finger gene
lang: en
text: Roaz
lang: en
text: Smad- and Olf-interacting zinc finger protein
lang: en
text: Zfp104
lang: en
text: early B-cell factor associated zinc finger protein
lang: en
text: hOAZ
GeneType: Name: gene with protein product
Rare disease: Juvenile nephronophthisis (Orphanet code 93592)
Associated genes:
Name: nephrocystin 1
Symbol: NPHP1
Synonyms: lang: en
text: JBTS4
lang: en
text: SLSN1
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: GLIS family zinc finger 2
Symbol: GLIS2
Synonyms: lang: en
text: Gli-similar 2
lang: en
text: NPHP7
lang: en
text: nephrocystin-7
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: ankyrin repeat and sterile alpha motif domain containing 6
Symbol: ANKS6
Synonyms: lang: en
text: FLJ36928
lang: en
text: NPHP16
GeneType: Name: gene with protein product
Name: mitogen-activated protein kinase binding protein 1
Symbol: MAPKBP1
Synonyms: lang: en
text: KIAA0596
lang: en
text: NPHP20
GeneType: Name: gene with protein product
Name: ADAM metallopeptidase with thrombospondin type 1 motif 9
Symbol: ADAMTS9
Synonyms: lang: en
text: KIAA1312
GeneType: Name: gene with protein product
Rare disease: Late-onset nephronophthisis (Orphanet code 93589)
Associated genes:
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: X-prolyl aminopeptidase 3
Symbol: XPNPEP3
Synonyms: lang: en
text: APP3
lang: en
text: ICP55
lang: en
text: Intermediate Cleaving Peptidase 55
lang: en
text: NPHPL1
GeneType: Name: gene with protein product
Name: mitogen-activated protein kinase binding protein 1
Symbol: MAPKBP1
Synonyms: lang: en
text: KIAA0596
lang: en
text: NPHP20
GeneType: Name: gene with protein product
Rare disease: Primary hyperoxaluria type 1 (Orphanet code 93598)
Associated genes:
Name: alanine--glyoxylate aminotransferase
Symbol: AGXT
Synonyms: lang: en
text: AGT
lang: en
text: AGT1
lang: en
text: AGXT1
lang: en
text: L-alanine: glyoxylate aminotransferase 1
lang: en
text: PH1
lang: en
text: SPT
lang: en
text: Ser-PyrAT
lang: en
text: TLH6
lang: en
text: glycolicaciduria
lang: en
text: oxalosis I
lang: en
text: primary hyperoxaluria type 1
lang: en
text: serine:pyruvate aminotransferase
GeneType: Name: gene with protein product
Rare disease: Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis (Orphanet code 596008)
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: Congenital thrombotic thrombocytopenic purpura (Orphanet code 93583)
Associated genes:
Name: ADAM metallopeptidase with thrombospondin type 1 motif 13
Symbol: ADAMTS13
Synonyms: lang: en
text: DKFZp434C2322
lang: en
text: FLJ42993
lang: en
text: MGC118899
lang: en
text: MGC118900
lang: en
text: TTP
lang: en
text: VWFCP
lang: en
text: vWF-CP
GeneType: Name: gene with protein product
Rare disease: Distal renal tubular acidosis with anemia (Orphanet code 93610)
Associated genes:
Name: solute carrier family 4 member 1 (Diego blood group)
Symbol: SLC4A1
Synonyms: lang: en
text: Band 3 anion transport protein
lang: en
text: CD233
lang: en
text: EMPB3
lang: en
text: FR
lang: en
text: Froese blood group
lang: en
text: RTA1A
lang: en
text: SW
lang: en
text: Swann blood group
lang: en
text: WR
lang: en
text: Wright blood group
GeneType: Name: gene with protein product
Rare disease: Combined immunodeficiency due to RELA haploinsufficiency (Orphanet code 596759)
Associated genes:
Name: RELA proto-oncogene, NF-kB subunit
Symbol: RELA
Synonyms: lang: en
text: p65
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant distal renal tubular acidosis (Orphanet code 93608)
Associated genes:
Name: solute carrier family 4 member 1 (Diego blood group)
Symbol: SLC4A1
Synonyms: lang: en
text: Band 3 anion transport protein
lang: en
text: CD233
lang: en
text: EMPB3
lang: en
text: FR
lang: en
text: Froese blood group
lang: en
text: RTA1A
lang: en
text: SW
lang: en
text: Swann blood group
lang: en
text: WR
lang: en
text: Wright blood group
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive proximal renal tubular acidosis (Orphanet code 93607)
Associated genes:
Name: solute carrier family 4 member 4
Symbol: SLC4A4
Synonyms: lang: en
text: Electrogenic sodium bicarbonate cotransporter 1
lang: en
text: HNBC1
lang: en
text: KNBC
lang: en
text: NBC1
lang: en
text: NBC2
lang: en
text: NBCe1
lang: en
text: hhNMC
lang: en
text: kNBC1
lang: en
text: kidney type Na+/HCO3- cotransporter
lang: en
text: pNBC
lang: en
text: pancreatic sodium bicarbonate cotransporter
GeneType: Name: gene with protein product
Rare disease: Cystinuria type B (Orphanet code 93613)
Associated genes:
Name: solute carrier family 7 member 9
Symbol: SLC7A9
Synonyms: lang: en
text: BAT1
lang: en
text: b(0,+)-type amino acid transporter 1
GeneType: Name: gene with protein product
Rare disease: Cystinuria type A (Orphanet code 93612)
Associated genes:
Name: solute carrier family 3 member 1
Symbol: SLC3A1
Synonyms: lang: en
text: ATR1
lang: en
text: CSNU1
lang: en
text: D2H
lang: en
text: NBAT
lang: en
text: RBAT
lang: en
text: amino acid transporter 1
lang: en
text: neutral and basic amino acid transport protein rBAT
GeneType: Name: gene with protein product
Rare disease: Xanthinuria type II (Orphanet code 93602)
Associated genes:
Name: molybdenum cofactor sulfurase
Symbol: MOCOS
Synonyms: lang: en
text: FLJ20733
lang: en
text: HMCS
lang: en
text: MCS
lang: en
text: MOS
lang: en
text: human molybdenum cofactor sulfurase
GeneType: Name: gene with protein product
Rare disease: Xanthinuria type I (Orphanet code 93601)
Associated genes:
Name: xanthine dehydrogenase
Symbol: XDH
Synonyms: lang: en
text: XO
lang: en
text: XOR
GeneType: Name: gene with protein product