TaoMedAI/RareMedData huggingface dataset:
Rare disease: Narcolepsy type 1 (Orphanet code 2073)
Associated genes:
Name: hypocretin neuropeptide precursor
Symbol: HCRT
Synonyms: lang: en
text: OX
lang: en
text: PPOX
lang: en
text: orexin
lang: en
text: prepro-orexin
GeneType: Name: gene with protein product
Name: major histocompatibility complex, class II, DR beta 1
Symbol: HLA-DRB1
GeneType: Name: gene with protein product
Name: major histocompatibility complex, class II, DQ beta 1
Symbol: HLA-DQB1
Synonyms: lang: en
text: CELIAC1
lang: en
text: IDDM1
GeneType: Name: gene with protein product
Name: myelin oligodendrocyte glycoprotein
Symbol: MOG
Synonyms: lang: en
text: BTN6
lang: en
text: BTNL11
GeneType: Name: gene with protein product
Name: TNF superfamily member 4
Symbol: TNFSF4
Synonyms: lang: en
text: CD252
lang: en
text: OX-40L
lang: en
text: gp34
GeneType: Name: gene with protein product
Name: purinergic receptor P2Y11
Symbol: P2RY11
Synonyms: lang: en
text: P2Y11
GeneType: Name: gene with protein product
Name: zinc finger protein 365
Symbol: ZNF365
Synonyms: lang: en
text: KIAA0844
lang: en
text: Su48
lang: en
text: Talanin
lang: en
text: UAN
GeneType: Name: gene with protein product
Name: cathepsin H
Symbol: CTSH
Synonyms: lang: en
text: ACC-4
lang: en
text: ACC-5
lang: en
text: ACC4
lang: en
text: ACC5
GeneType: Name: gene with protein product
Rare disease: Alpha-thalassemia-myelodysplastic syndrome (Orphanet code 231401)
Associated genes:
Name: ATRX chromatin remodeler
Symbol: ATRX
Synonyms: lang: en
text: RAD54 homolog (S. cerevisiae)
lang: en
text: XH2
lang: en
text: XNP
GeneType: Name: gene with protein product
Rare disease: Beta-thalassemia-X-linked thrombocytopenia syndrome (Orphanet code 231393)
Associated genes:
Name: GATA binding protein 1
Symbol: GATA1
Synonyms: lang: en
text: ERYF1
lang: en
text: GATA-1
lang: en
text: NF-E1
lang: en
text: NFE1
lang: en
text: nuclear factor, erythroid 1
GeneType: Name: gene with protein product
Rare disease: Medullary sponge kidney (Orphanet code 1309)
Associated genes:
Name: HNF1 homeobox B
Symbol: HNF1B
Synonyms: lang: en
text: HNF1beta
lang: en
text: HNF1ß
lang: en
text: LFB3
lang: en
text: MODY5
lang: en
text: VHNF1
lang: en
text: hepatocyte nuclear factor 1 beta
GeneType: Name: gene with protein product
Rare disease: Hemoglobin E-beta-thalassemia syndrome (Orphanet code 231249)
Associated genes:
Name: hemoglobin subunit beta
Symbol: HBB
Synonyms: lang: en
text: CD113t-C
lang: en
text: beta-globin
GeneType: Name: gene with protein product
Rare disease: Hemoglobin C-beta-thalassemia syndrome (Orphanet code 231242)
Associated genes:
Name: hemoglobin subunit beta
Symbol: HBB
Synonyms: lang: en
text: CD113t-C
lang: en
text: beta-globin
GeneType: Name: gene with protein product
Rare disease: Idiopathic hypercalciuria (Orphanet code 2197)
Associated genes:
Name: adenylate cyclase 10
Symbol: ADCY10
Synonyms: lang: en
text: HCA2
lang: en
text: Hypercalciuria, absorptive, 2
lang: en
text: RP1-313L4.2
lang: en
text: SAC
lang: en
text: SACI
lang: en
text: Sacy
lang: en
text: soluble adenylyl cyclase
GeneType: Name: gene with protein product
Rare disease: Delta-beta-thalassemia (Orphanet code 231237)
Associated genes:
Name: hemoglobin subunit beta
Symbol: HBB
Synonyms: lang: en
text: CD113t-C
lang: en
text: beta-globin
GeneType: Name: gene with protein product
Name: hemoglobin subunit gamma 1
Symbol: HBG1
Synonyms: lang: en
text: HBG-T2
lang: en
text: fetal hemoglobin F subunit gamma 1
GeneType: Name: gene with protein product
Name: hemoglobin subunit delta
Symbol: HBD
Synonyms: lang: en
text: HBK
GeneType: Name: gene with protein product
Rare disease: Dominant beta-thalassemia (Orphanet code 231226)
Associated genes:
Name: hemoglobin subunit beta
Symbol: HBB
Synonyms: lang: en
text: CD113t-C
lang: en
text: beta-globin
GeneType: Name: gene with protein product
Rare disease: Beta-thalassemia intermedia (Orphanet code 231222)
Associated genes:
Name: hemoglobin subunit beta
Symbol: HBB
Synonyms: lang: en
text: CD113t-C
lang: en
text: beta-globin
GeneType: Name: gene with protein product
Rare disease: Beta-thalassemia major (Orphanet code 231214)
Associated genes:
Name: hemoglobin subunit beta
Symbol: HBB
Synonyms: lang: en
text: CD113t-C
lang: en
text: beta-globin
GeneType: Name: gene with protein product
Rare disease: Hailey-Hailey disease (Orphanet code 2841)
Associated genes:
Name: ATPase secretory pathway Ca2+ transporting 1
Symbol: ATP2C1
Synonyms: lang: en
text: ATP2C1A
lang: en
text: KIAA1347
lang: en
text: PMR1
lang: en
text: SPCA1
lang: en
text: calcium-transporting ATPase type 2C member 1
lang: en
text: secretory pathway Ca2+/Mn2+ ATPase 1
GeneType: Name: gene with protein product
Rare disease: Usher syndrome type 3 (Orphanet code 231183)
Associated genes:
Name: centrosomal protein 78
Symbol: CEP78
Synonyms: lang: en
text: FLJ12643
GeneType: Name: gene with protein product
Name: arylsulfatase G
Symbol: ARSG
Synonyms: lang: en
text: KIAA1001
GeneType: Name: gene with protein product
Name: clarin 1
Symbol: CLRN1
GeneType: Name: gene with protein product
Name: mitochondrially encoded tRNA-Ser (AGU/C) 2
Symbol: MT-TS2
Synonyms: lang: en
text: RP8
lang: en
text: TRNS2
GeneType: Name: Non-coding RNA
Name: histidyl-tRNA synthetase 1
Symbol: HARS1
Synonyms: lang: en
text: HisRS
lang: en
text: Histidine tRNA ligase 1, cytoplasmic
lang: en
text: Jo-1 antigen
lang: en
text: histidine tRNA ligase 1, cytoplasmic
GeneType: Name: gene with protein product
Rare disease: Frasier syndrome (Orphanet code 347)
Associated genes:
Name: WT1 transcription factor
Symbol: WT1
Synonyms: lang: en
text: AWT1
lang: en
text: NPHS4
lang: en
text: WAGR
lang: en
text: WIT-2
lang: en
text: WT-1
GeneType: Name: gene with protein product
Rare disease: Usher syndrome type 2 (Orphanet code 231178)
Associated genes:
Name: usherin
Symbol: USH2A
Synonyms: lang: en
text: RP39
GeneType: Name: gene with protein product
Name: adhesion G protein-coupled receptor V1
Symbol: ADGRV1
Synonyms: lang: en
text: DKFZp761P0710
lang: en
text: FEB4
lang: en
text: KIAA0686
lang: en
text: VLGR1
GeneType: Name: gene with protein product
Name: myosin VIIA
Symbol: MYO7A
Synonyms: lang: en
text: NSRD2
GeneType: Name: gene with protein product
Name: whirlin
Symbol: WHRN
Synonyms: lang: en
text: CIP98
lang: en
text: PDZD7B
lang: en
text: USH2D
GeneType: Name: gene with protein product
Name: PDZ domain containing 7
Symbol: PDZD7
Synonyms: lang: en
text: FLJ23209
lang: en
text: bA108L7.8
GeneType: Name: gene with protein product
Rare disease: Combined immunodeficiency due to partial RAG1 deficiency (Orphanet code 231154)
Associated genes:
Name: recombination activating 1
Symbol: RAG1
Synonyms: lang: en
text: MGC43321
lang: en
text: RING finger protein 74
lang: en
text: RNF74
lang: en
text: V(D)J recombination-activating protein 1
lang: en
text: recombination activating protein 1
GeneType: Name: gene with protein product
Rare disease: Myopathy and diabetes mellitus (Orphanet code 2596)
Associated genes:
Name: mitochondrially encoded tRNA-Glu (GAA/G)
Symbol: MT-TE
Synonyms: lang: en
text: trnE
GeneType: Name: Non-coding RNA
Rare disease: Properdin deficiency (Orphanet code 2966)
Associated genes:
Name: complement factor properdin
Symbol: CFP
GeneType: Name: gene with protein product
Rare disease: Familial cerebral saccular aneurysm (Orphanet code 231160)
Associated genes:
Name: angiopoietin like 6
Symbol: ANGPTL6
Synonyms: lang: en
text: AGF
lang: en
text: ARP5
lang: en
text: angiopoietin-related protein 5
GeneType: Name: gene with protein product
Name: collagen type III alpha 1 chain
Symbol: COL3A1
GeneType: Name: gene with protein product
Name: endoglin
Symbol: ENG
Synonyms: lang: en
text: CD105
lang: en
text: END
lang: en
text: HHT1
GeneType: Name: gene with protein product
Name: transforming growth factor beta receptor 3
Symbol: TGFBR3
Synonyms: lang: en
text: BGCAN
lang: en
text: betaglycan
lang: en
text: betaglycan proteoglycan
GeneType: Name: gene with protein product
Name: thrombospondin type 1 domain containing 1
Symbol: THSD1
Synonyms: lang: en
text: TMTSP
GeneType: Name: gene with protein product
Rare disease: Usher syndrome type 1 (Orphanet code 231169)
Associated genes:
Name: Usher syndrome 1K (autosomal recessive)
Symbol: USH1K
GeneType: Name: Disorder-associated locus
Name: cadherin related 23
Symbol: CDH23
Synonyms: lang: en
text: CDHR23
lang: en
text: cadherin-related family member 23
GeneType: Name: gene with protein product
Name: USH1 protein network component harmonin
Symbol: USH1C
Synonyms: lang: en
text: AIE-75
lang: en
text: NY-CO-37
lang: en
text: NY-CO-38
lang: en
text: PDZ-73
lang: en
text: PDZ73
lang: en
text: PDZD7C
lang: en
text: harmonin
GeneType: Name: gene with protein product
Name: USH1 protein network component sans
Symbol: USH1G
Synonyms: lang: en
text: ANKS4A
lang: en
text: FLJ33924
lang: en
text: Sans
GeneType: Name: gene with protein product
Name: myosin VIIA
Symbol: MYO7A
Synonyms: lang: en
text: NSRD2
GeneType: Name: gene with protein product
Name: protocadherin related 15
Symbol: PCDH15
Synonyms: lang: en
text: CDHR15
lang: en
text: cadherin-related family member 15
GeneType: Name: gene with protein product
Name: Usher syndrome 1E (autosomal recessive, severe)
Symbol: USH1E
GeneType: Name: Disorder-associated locus
Name: Usher syndrome 1H (autosomal recessive)
Symbol: USH1H
GeneType: Name: Disorder-associated locus
Name: calcium and integrin binding family member 2
Symbol: CIB2
Synonyms: lang: en
text: KIP2
lang: en
text: kinase interacting protein 2
GeneType: Name: gene with protein product
Name: espin
Symbol: ESPN
GeneType: Name: gene with protein product
Rare disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (Orphanet code 231140)
Associated genes:
Name: insulin like growth factor 2
Symbol: IGF2
Synonyms: lang: en
text: FLJ44734
lang: en
text: IGF-II
lang: en
text: preptin
lang: en
text: somatomedin A
GeneType: Name: gene with protein product
Name: H19 imprinted maternally expressed transcript
Symbol: H19
Synonyms: lang: en
text: ASM
lang: en
text: ASM1
lang: en
text: D11S813E
lang: en
text: LINC00008
lang: en
text: MIR675 host gene
lang: en
text: MIR675HG
lang: en
text: NCRNA00008
lang: en
text: adult skeletal muscle
lang: en
text: long intergenic non-protein coding RNA 8
lang: en
text: non-protein coding RNA 8
GeneType: Name: Non-coding RNA
Rare disease: Silver-Russell syndrome due to 11p15 microduplication (Orphanet code 231144)
Associated genes:
Name: H19 imprinted maternally expressed transcript
Symbol: H19
Synonyms: lang: en
text: ASM
lang: en
text: ASM1
lang: en
text: D11S813E
lang: en
text: LINC00008
lang: en
text: MIR675 host gene
lang: en
text: MIR675HG
lang: en
text: NCRNA00008
lang: en
text: adult skeletal muscle
lang: en
text: long intergenic non-protein coding RNA 8
lang: en
text: non-protein coding RNA 8
GeneType: Name: Non-coding RNA
Name: insulin like growth factor 2
Symbol: IGF2
Synonyms: lang: en
text: FLJ44734
lang: en
text: IGF-II
lang: en
text: preptin
lang: en
text: somatomedin A
GeneType: Name: gene with protein product
Rare disease: Beckwith-Wiedemann syndrome due to CDKN1C mutation (Orphanet code 231120)
Associated genes:
Name: cyclin dependent kinase inhibitor 1C
Symbol: CDKN1C
Synonyms: lang: en
text: KIP2
lang: en
text: P57
GeneType: Name: gene with protein product
Rare disease: Beckwith-Wiedemann syndrome due to 11p15 microdeletion (Orphanet code 231127)
Associated genes:
Name: H19 imprinted maternally expressed transcript
Symbol: H19
Synonyms: lang: en
text: ASM
lang: en
text: ASM1
lang: en
text: D11S813E
lang: en
text: LINC00008
lang: en
text: MIR675 host gene
lang: en
text: MIR675HG
lang: en
text: NCRNA00008
lang: en
text: adult skeletal muscle
lang: en
text: long intergenic non-protein coding RNA 8
lang: en
text: non-protein coding RNA 8
GeneType: Name: Non-coding RNA
Rare disease: Rhabdoid tumor predisposition syndrome (Orphanet code 231108)
Associated genes:
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: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
Symbol: SMARCA4
Synonyms: lang: en
text: ATP-dependent helicase SMARCA4
lang: en
text: BAF190
lang: en
text: BRG1
lang: en
text: BRM/SWI2-related gene 1
lang: en
text: FLJ39786
lang: en
text: SNF2
lang: en
text: SNF2-BETA
lang: en
text: SNF2-like 4
lang: en
text: SNF2LB
lang: en
text: SWI2
lang: en
text: brahma protein-like 1
lang: en
text: global transcription activator homologous sequence
lang: en
text: hSNF2b
lang: en
text: homeotic gene regulator
lang: en
text: mitotic growth and transcription activator
lang: en
text: nuclear protein GRB1
lang: en
text: sucrose nonfermenting-like 4
GeneType: Name: gene with protein product
Rare disease: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 (Orphanet code 231117)
Associated genes:
Name: H19 imprinted maternally expressed transcript
Symbol: H19
Synonyms: lang: en
text: ASM
lang: en
text: ASM1
lang: en
text: D11S813E
lang: en
text: LINC00008
lang: en
text: MIR675 host gene
lang: en
text: MIR675HG
lang: en
text: NCRNA00008
lang: en
text: adult skeletal muscle
lang: en
text: long intergenic non-protein coding RNA 8
lang: en
text: non-protein coding RNA 8
GeneType: Name: Non-coding RNA
Name: KCNQ1 opposite strand/antisense transcript 1
Symbol: KCNQ1OT1
Synonyms: lang: en
text: KCNQ1 antisense RNA 2 (non-protein coding)
lang: en
text: KCNQ1 overlapping transcript 1 (non-protein coding)
lang: en
text: KCNQ1-AS2
lang: en
text: KvDMR1
lang: en
text: KvLQT1-AS
lang: en
text: LIT1
lang: en
text: NCRNA00012
lang: en
text: non-protein coding RNA 12
GeneType: Name: Non-coding RNA
Name: insulin like growth factor 2
Symbol: IGF2
Synonyms: lang: en
text: FLJ44734
lang: en
text: IGF-II
lang: en
text: preptin
lang: en
text: somatomedin A
GeneType: Name: gene with protein product
Rare disease: Familial generalized lentiginosis (Orphanet code 231040)
Associated genes:
Name: SAM and SH3 domain containing 1
Symbol: SASH1
Synonyms: lang: en
text: KIAA0790
lang: en
text: SH3D6A
lang: en
text: dJ323M4.1
GeneType: Name: gene with protein product
Rare disease: Essential thrombocythemia (Orphanet code 3318)
Associated genes:
Name: tet methylcytosine dioxygenase 2
Symbol: TET2
Synonyms: lang: en
text: FLJ20032
lang: en
text: ten-eleven translocation 2
GeneType: Name: gene with protein product
Name: Janus kinase 2
Symbol: JAK2
Synonyms: lang: en
text: JTK10
GeneType: Name: gene with protein product
Name: MPL proto-oncogene, thrombopoietin receptor
Symbol: MPL
Synonyms: lang: en
text: CD110
lang: en
text: THPOR
lang: en
text: TPOR
GeneType: Name: gene with protein product
Name: calreticulin
Symbol: CALR
Synonyms: lang: en
text: CALR1
lang: en
text: CRT
lang: en
text: FLJ26680
lang: en
text: RO
lang: en
text: SSA
lang: en
text: Sicca syndrome antigen A (autoantigen Ro; calreticulin)
lang: en
text: autoantigen Ro
lang: en
text: cC1qR
lang: en
text: calregulin
GeneType: Name: gene with protein product
Name: SH2B adaptor protein 3
Symbol: SH2B3
Synonyms: lang: en
text: IDDM20
lang: en
text: LNK
lang: en
text: lymphocyte adaptor protein
GeneType: Name: gene with protein product
Name: tumor protein p53
Symbol: TP53
Synonyms: lang: en
text: LFS1
lang: en
text: Li-Fraumeni syndrome
lang: en
text: P53
lang: en
text: p53
GeneType: Name: gene with protein product
Rare disease: Ehlers-Danlos/osteogenesis imperfecta syndrome (Orphanet code 230857)
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
Rare disease: Cardiac-valvular Ehlers-Danlos syndrome (Orphanet code 230851)
Associated genes:
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
Rare disease: Hereditary thrombophilia due to congenital antithrombin deficiency (Orphanet code 82)
Associated genes:
Name: serpin family C member 1
Symbol: SERPINC1
Synonyms: lang: en
text: ATIII
lang: en
text: MGC22579
lang: en
text: antithrombin (aa 375-432)
lang: en
text: antithrombin III
lang: en
text: coding sequence signal peptide antithrombin part 1
lang: en
text: signal peptide antithrombin part 1
GeneType: Name: gene with protein product
Rare disease: Classical-like Ehlers-Danlos syndrome type 1 (Orphanet code 230839)
Associated genes:
Name: tenascin XB
Symbol: TNXB
Synonyms: lang: en
text: HXBL
lang: en
text: Hexabrachion-like protein
lang: en
text: TN-X
lang: en
text: TNX
lang: en
text: TNXBS
lang: en
text: XB
lang: en
text: XBS
lang: en
text: tenascin-X
GeneType: Name: gene with protein product
Rare disease: AApoAII amyloidosis (Orphanet code 238269)
Associated genes:
Name: apolipoprotein A2
Symbol: APOA2
GeneType: Name: gene with protein product
Rare disease: 15q11q13 microduplication syndrome (Orphanet code 238446)
Associated genes:
Name: ubiquitin protein ligase E3A
Symbol: UBE3A
Synonyms: lang: en
text: ANCR
lang: en
text: AS
lang: en
text: Angelman syndrome
lang: en
text: E6-AP
lang: en
text: FLJ26981
GeneType: Name: gene with protein product
Rare disease: Severe X-linked mitochondrial encephalomyopathy (Orphanet code 238329)
Associated genes:
Name: apoptosis inducing factor mitochondria associated 1
Symbol: AIFM1
Synonyms: lang: en
text: AIF
lang: en
text: CMTX4
lang: en
text: DFNX5
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant generalized dystrophic epidermolysis bullosa (Orphanet code 231568)
Associated genes:
Name: collagen type VII alpha 1 chain
Symbol: COL7A1
Synonyms: lang: en
text: LC collagen
lang: en
text: collagen VII, alpha-1 polypeptide
GeneType: Name: gene with protein product
Rare disease: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency (Orphanet code 1900)
Associated genes:
Name: procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
Symbol: PLOD1
Synonyms: lang: en
text: LH1
lang: en
text: lysyl hydroxlase 1
lang: en
text: procollagen lysyl hydroxylase 1
GeneType: Name: gene with protein product
Rare disease: Isolated growth hormone deficiency type IB (Orphanet code 231671)
Associated genes:
Name: growth hormone 1
Symbol: GH1
Synonyms: lang: en
text: GH
lang: en
text: GH-N
lang: en
text: GHN
lang: en
text: hGH-N
lang: en
text: pituitary growth hormone
lang: en
text: somatotropin
GeneType: Name: gene with protein product
Name: growth hormone releasing hormone receptor
Symbol: GHRHR
GeneType: Name: gene with protein product
Rare disease: Vascular Ehlers-Danlos syndrome (Orphanet code 286)
Associated genes:
Name: collagen type III alpha 1 chain
Symbol: COL3A1
GeneType: Name: gene with protein product
Rare disease: Isolated growth hormone deficiency type II (Orphanet code 231679)
Associated genes:
Name: growth hormone 1
Symbol: GH1
Synonyms: lang: en
text: GH
lang: en
text: GH-N
lang: en
text: GHN
lang: en
text: hGH-N
lang: en
text: pituitary growth hormone
lang: en
text: somatotropin
GeneType: Name: gene with protein product
Name: POU class 1 homeobox 1
Symbol: POU1F1
Synonyms: lang: en
text: GHF-1
lang: en
text: PIT-1
lang: en
text: POU1F1a
lang: en
text: growth hormone factor 1
lang: en
text: pituitary transcript factor 1
GeneType: Name: gene with protein product
Rare disease: Isolated growth hormone deficiency type IA (Orphanet code 231662)
Associated genes:
Name: growth hormone 1
Symbol: GH1
Synonyms: lang: en
text: GH
lang: en
text: GH-N
lang: en
text: GHN
lang: en
text: hGH-N
lang: en
text: pituitary growth hormone
lang: en
text: somatotropin
GeneType: Name: gene with protein product
Name: RNA binding region (RNP1, RRM) containing 3
Symbol: RNPC3
Synonyms: lang: en
text: FLJ20008
lang: en
text: KIAA1839
lang: en
text: RBM40
lang: en
text: SNRNP65
lang: en
text: U11/U12 snRNP 65K
GeneType: Name: gene with protein product
Rare disease: Epidermolysis bullosa simplex with muscular dystrophy (Orphanet code 257)
Associated genes:
Name: plectin
Symbol: PLEC
Synonyms: lang: en
text: PCN
lang: en
text: PLTN
GeneType: Name: gene with protein product
Rare disease: Dermatosparaxis Ehlers-Danlos syndrome (Orphanet code 1901)
Associated genes:
Name: ADAM metallopeptidase with thrombospondin type 1 motif 2
Symbol: ADAMTS2
Synonyms: lang: en
text: ADAM-TS2
lang: en
text: ADAMTS-3
lang: en
text: NPI
lang: en
text: PCINP
lang: en
text: hPCPNI
lang: en
text: procollagen I N-proteinase
lang: en
text: procollagen N-endopeptidase
GeneType: Name: gene with protein product
Name: ADAMTS like 2
Symbol: ADAMTSL2
Synonyms: lang: en
text: KIAA0605
GeneType: Name: gene with protein product
Rare disease: Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome (Orphanet code 231720)
Associated genes:
Name: LIM homeobox 3
Symbol: LHX3
GeneType: Name: gene with protein product
Rare disease: Arthrochalasia Ehlers-Danlos syndrome (Orphanet code 1899)
Associated genes:
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: collagen type I alpha 1 chain
Symbol: COL1A1
Synonyms: lang: en
text: OI4
GeneType: Name: gene with protein product
Rare disease: Congenital nephrotic syndrome, Finnish type (Orphanet code 839)
Associated genes:
Name: NPHS1 adhesion molecule, nephrin
Symbol: NPHS1
Synonyms: lang: en
text: CNF
lang: en
text: NPHN
GeneType: Name: gene with protein product
Rare disease: Miller-Dieker syndrome (Orphanet code 531)
Associated genes:
Name: HIC ZBTB transcriptional repressor 1
Symbol: HIC1
Synonyms: lang: en
text: ZBTB29
lang: en
text: ZNF901
GeneType: Name: gene with protein product
Name: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
Symbol: YWHAE
Synonyms: lang: en
text: 14-3-3 epsilon
lang: en
text: FLJ45465
GeneType: Name: gene with protein product
Name: platelet activating factor acetylhydrolase 1b regulatory subunit 1
Symbol: PAFAH1B1
Synonyms: lang: en
text: LIS1
lang: en
text: NudF
lang: en
text: PAFAH
lang: en
text: lissencephaly-1
GeneType: Name: gene with protein product
Rare disease: X-linked lissencephaly with abnormal genitalia (Orphanet code 452)
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: Glaucoma secondary to spherophakia/ectopia lentis and megalocornea (Orphanet code 238763)
Associated genes:
Name: latent transforming growth factor beta binding protein 2
Symbol: LTBP2
GeneType: Name: gene with protein product