TaoMedAI/RareMedData huggingface dataset:
Rare disease: CHD4-related neurodevelopmental disorder (Orphanet code 653712)
Associated genes:
Name: chromodomain helicase DNA binding protein 4
Symbol: CHD4
Synonyms: lang: en
text: Mi-2b
lang: en
text: Mi2-BETA
GeneType: Name: gene with protein product
Rare disease: Digenic Alport syndrome (Orphanet code 653722)
Associated genes:
Name: collagen type IV alpha 3 chain
Symbol: COL4A3
Synonyms: lang: en
text: tumstatin
GeneType: Name: gene with protein product
Name: collagen type IV alpha 4 chain
Symbol: COL4A4
Synonyms: lang: en
text: CA44
lang: en
text: collagen of basement membrane, alpha-4 chain
GeneType: Name: gene with protein product
Name: collagen type IV alpha 5 chain
Symbol: COL4A5
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive limb-girdle muscular dystrophy, type 28 (Orphanet code 653725)
Associated genes:
Name: 3-hydroxy-3-methylglutaryl-CoA reductase
Symbol: HMGCR
Synonyms: lang: en
text: 3-hydroxy-3-methylglutaryl CoA reductase (NADPH)
lang: en
text: hydroxymethylglutaryl-CoA reductase
GeneType: Name: gene with protein product
Rare disease: Congenital insensitivity to pain syndrome, Marsili type (Orphanet code 653728)
Associated genes:
Name: zinc finger homeobox 2
Symbol: ZFHX2
Synonyms: lang: en
text: KIAA1056
lang: en
text: KIAA1762
lang: en
text: ZFH-5
GeneType: Name: gene with protein product
Rare disease: Cone rod dystrophy-short stature syndrome (Orphanet code 653709)
Associated genes:
Name: cilia and flagella associated protein 410
Symbol: CFAP410
Synonyms: lang: en
text: A2
lang: en
text: LRRC76
lang: en
text: YF5
lang: en
text: leucine rich repeat containing 76
lang: en
text: nuclear encoded mitochondrial protein
GeneType: Name: gene with protein product
Rare disease: X-linked combined immunodeficiency due to SASH3 deficiency (Orphanet code 653751)
Associated genes:
Name: SAM and SH3 domain containing 3
Symbol: SASH3
Synonyms: lang: en
text: 753P9
lang: en
text: HACS2
lang: en
text: SH3D6C
lang: en
text: SLY
GeneType: Name: gene with protein product
Rare disease: Jansen-de Vries syndrome (Orphanet code 653767)
Associated genes:
Name: protein phosphatase, Mg2+/Mn2+ dependent 1D
Symbol: PPM1D
Synonyms: lang: en
text: PP2C-DELTA
lang: en
text: Wip1
lang: en
text: protein phosphatase 2C, delta isoform
lang: en
text: wild-type p53-induced phosphatase 1
GeneType: Name: gene with protein product
Rare disease: Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (Orphanet code 653880)
Associated genes:
Name: enoyl-CoA hydratase, short chain 1
Symbol: ECHS1
Synonyms: lang: en
text: SCEH
lang: en
text: short chain enoyl-CoA hydratase
GeneType: Name: gene with protein product
Rare disease: Glycogen storage disease due to muscle beta-enolase deficiency (Orphanet code 99849)
Associated genes:
Name: enolase 3
Symbol: ENO3
Synonyms: lang: en
text: beta-enolase
lang: en
text: muscle enriched enolase
GeneType: Name: gene with protein product
Rare disease: Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome (Orphanet code 652487)
Associated genes:
Name: serine/arginine repetitive matrix 2
Symbol: SRRM2
Synonyms: lang: en
text: Cwc21
lang: en
text: KIAA0324
lang: en
text: SRL300
lang: en
text: SRm300
GeneType: Name: gene with protein product
Rare disease: Genetic recurrent myoglobinuria (Orphanet code 99845)
Associated genes:
Name: mitochondrially encoded cytochrome c oxidase I
Symbol: MT-CO1
Synonyms: lang: en
text: COI
lang: en
text: COX1
GeneType: Name: gene with protein product
Name: mitochondrially encoded cytochrome c oxidase III
Symbol: MT-CO3
Synonyms: lang: en
text: CO3
lang: en
text: COIII
lang: en
text: COX3
GeneType: Name: gene with protein product
Name: lipin 1
Symbol: LPIN1
Synonyms: lang: en
text: KIAA0188
lang: en
text: phosphatidate phosphatase LPIN1
GeneType: Name: gene with protein product
Name: obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
Symbol: OBSCN
Synonyms: lang: en
text: ARHGEF30
lang: en
text: KIAA1556
lang: en
text: KIAA1639
lang: en
text: UNC89
GeneType: Name: gene with protein product
Rare disease: Leukocyte adhesion deficiency type II (Orphanet code 99843)
Associated genes:
Name: solute carrier family 35 member C1
Symbol: SLC35C1
Synonyms: lang: en
text: FLJ11320
lang: en
text: FUCT1
lang: en
text: GDP-fucose transporter 1
GeneType: Name: gene with protein product
Rare disease: Leukocyte adhesion deficiency type III (Orphanet code 99844)
Associated genes:
Name: FERM domain containing kindlin 3
Symbol: FERMT3
Synonyms: lang: en
text: KIND3
lang: en
text: MGC10966
lang: en
text: MIG-2
lang: en
text: MIG2B
lang: en
text: UNC-112 related protein 2
lang: en
text: UNC112C
lang: en
text: URP2
lang: en
text: kindlin-3
GeneType: Name: gene with protein product
Rare disease: Ovarioleukodystrophy (Orphanet code 99853)
Associated genes:
Name: eukaryotic translation initiation factor 2B subunit alpha
Symbol: EIF2B1
Synonyms: lang: en
text: EIF-2B
lang: en
text: EIF-2Balpha
lang: en
text: EIF2BA
lang: en
text: EIF2Balpha
GeneType: Name: gene with protein product
Name: eukaryotic translation initiation factor 2B subunit beta
Symbol: EIF2B2
Synonyms: lang: en
text: EIF-2Bbeta
lang: en
text: EIF2B
lang: en
text: EIF2Bbeta
GeneType: Name: gene with protein product
Name: eukaryotic translation initiation factor 2B subunit gamma
Symbol: EIF2B3
Synonyms: lang: en
text: EIF-2B
lang: en
text: EIF2Bgamma
GeneType: Name: gene with protein product
Name: eukaryotic translation initiation factor 2B subunit delta
Symbol: EIF2B4
Synonyms: lang: en
text: DKFZP586J0119
lang: en
text: EIF-2B
lang: en
text: EIF2B
lang: en
text: EIF2Bdelta
GeneType: Name: gene with protein product
Name: eukaryotic translation initiation factor 2B subunit epsilon
Symbol: EIF2B5
Synonyms: lang: en
text: EIF-2B
lang: en
text: EIF2Bepsilon
GeneType: Name: gene with protein product
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
Rare disease: Adult-onset progressive leukoencephalopathy-early-onset deafness (Orphanet code 652532)
Associated genes:
Name: lysyl-tRNA synthetase 1
Symbol: KARS1
Synonyms: lang: en
text: KARS1
lang: en
text: KARS2
lang: en
text: lysine tRNA ligase
GeneType: Name: gene with protein product
Rare disease: Cree leukoencephalopathy (Orphanet code 99854)
Associated genes:
Name: eukaryotic translation initiation factor 2B subunit alpha
Symbol: EIF2B1
Synonyms: lang: en
text: EIF-2B
lang: en
text: EIF-2Balpha
lang: en
text: EIF2BA
lang: en
text: EIF2Balpha
GeneType: Name: gene with protein product
Name: eukaryotic translation initiation factor 2B subunit beta
Symbol: EIF2B2
Synonyms: lang: en
text: EIF-2Bbeta
lang: en
text: EIF2B
lang: en
text: EIF2Bbeta
GeneType: Name: gene with protein product
Name: eukaryotic translation initiation factor 2B subunit gamma
Symbol: EIF2B3
Synonyms: lang: en
text: EIF-2B
lang: en
text: EIF2Bgamma
GeneType: Name: gene with protein product
Name: eukaryotic translation initiation factor 2B subunit delta
Symbol: EIF2B4
Synonyms: lang: en
text: DKFZP586J0119
lang: en
text: EIF-2B
lang: en
text: EIF2B
lang: en
text: EIF2Bdelta
GeneType: Name: gene with protein product
Name: eukaryotic translation initiation factor 2B subunit epsilon
Symbol: EIF2B5
Synonyms: lang: en
text: EIF-2B
lang: en
text: EIF2Bepsilon
GeneType: Name: gene with protein product
Rare disease: Ravine syndrome (Orphanet code 99852)
Associated genes:
Name: SLC7A2 intronic transcript 1
Symbol: SLC7A2-IT1
GeneType: Name: Non-coding RNA
Rare disease: Periodic fever-immunodeficiency-thrombocytopenia syndrome (Orphanet code 652522)
Associated genes:
Name: WD repeat domain 1
Symbol: WDR1
Synonyms: lang: en
text: AIP1
lang: en
text: actin-interacting protein 1
GeneType: Name: gene with protein product
Rare disease: Resistance to thyrotropin-releasing hormone syndrome (Orphanet code 99832)
Associated genes:
Name: thyrotropin releasing hormone receptor
Symbol: TRHR
GeneType: Name: gene with protein product
Rare disease: Leukocyte adhesion deficiency type I (Orphanet code 99842)
Associated genes:
Name: integrin subunit beta 2
Symbol: ITGB2
Synonyms: lang: en
text: LFA-1
lang: en
text: MAC-1
lang: en
text: complement component 3 receptor 3 and 4 subunit
GeneType: Name: gene with protein product
Rare disease: Genetic central precocious puberty in male (Orphanet code 650097)
Associated genes:
Name: makorin ring finger protein 3
Symbol: MKRN3
Synonyms: lang: en
text: MGC88288
lang: en
text: RNF63
lang: en
text: ZFP127
lang: en
text: zinc finger protein 127
GeneType: Name: gene with protein product
Name: delta like non-canonical Notch ligand 1
Symbol: DLK1
Synonyms: lang: en
text: Delta1
lang: en
text: FA1
lang: en
text: Pref-1
lang: en
text: ZOG
lang: en
text: pG2
GeneType: Name: gene with protein product
Name: KISS1 receptor
Symbol: KISS1R
Synonyms: lang: en
text: AXOR12
lang: en
text: HOT7T175
GeneType: Name: gene with protein product
Name: KiSS-1 metastasis suppressor
Symbol: KISS1
Synonyms: lang: en
text: kisspeptin
lang: en
text: prepro-kisspeptin
GeneType: Name: gene with protein product
Rare disease: Genetic central precocious puberty in female (Orphanet code 650077)
Associated genes:
Name: makorin ring finger protein 3
Symbol: MKRN3
Synonyms: lang: en
text: MGC88288
lang: en
text: RNF63
lang: en
text: ZFP127
lang: en
text: zinc finger protein 127
GeneType: Name: gene with protein product
Name: delta like non-canonical Notch ligand 1
Symbol: DLK1
Synonyms: lang: en
text: Delta1
lang: en
text: FA1
lang: en
text: Pref-1
lang: en
text: ZOG
lang: en
text: pG2
GeneType: Name: gene with protein product
Name: KISS1 receptor
Symbol: KISS1R
Synonyms: lang: en
text: AXOR12
lang: en
text: HOT7T175
GeneType: Name: gene with protein product
Rare disease: Neuronal intestinal pseudoobstruction (Orphanet code 99811)
Associated genes:
Name: filamin A
Symbol: FLNA
Synonyms: lang: en
text: ABP-280
lang: en
text: actin binding protein 280
lang: en
text: alpha filamin
GeneType: Name: gene with protein product
Rare disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation (Orphanet code 660012)
Associated genes:
Name: nuclear receptor subfamily 4 group A member 2
Symbol: NR4A2
Synonyms: lang: en
text: HZF-3
lang: en
text: NOT
lang: en
text: RNR1
lang: en
text: TINUR
GeneType: Name: gene with protein product
Rare disease: LIG4 syndrome (Orphanet code 99812)
Associated genes:
Name: X-ray repair cross complementing 4
Symbol: XRCC4
Synonyms: lang: en
text: DNA repair protein XRCC4
lang: en
text: X-ray repair, complementing defective, repair in Chinese hamster
lang: en
text: hXRCC4
GeneType: Name: gene with protein product
Name: DNA ligase 4
Symbol: LIG4
Synonyms: lang: en
text: DNA joinase
lang: en
text: DNA ligase IV
lang: en
text: DNA repair enzyme
lang: en
text: polydeoxyribonucleotide synthase [ATP] 4
lang: en
text: polynucleotide ligase
lang: en
text: sealase
GeneType: Name: gene with protein product
Rare disease: Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome (Orphanet code 660021)
Associated genes:
Name: angiomotin like 1
Symbol: AMOTL1
Synonyms: lang: en
text: JEAP
lang: en
text: junction-enriched and associated protein
GeneType: Name: gene with protein product
Rare disease: Turcot syndrome with polyposis (Orphanet code 99818)
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: Phelan-McDermid syndrome due to SHANK3 mutation (Orphanet code 662172)
Associated genes:
Name: SH3 and multiple ankyrin repeat domains 3
Symbol: SHANK3
Synonyms: lang: en
text: KIAA1650
lang: en
text: PSAP2
lang: en
text: SPANK-2
lang: en
text: proline rich synapse associated protein 2
lang: en
text: prosap2
lang: en
text: shank postsynaptic density protein
lang: en
text: shank3 postsynaptic density protein
GeneType: Name: gene with protein product
Rare disease: Familial gestational hyperthyroidism (Orphanet code 99819)
Associated genes:
Name: thyroid stimulating hormone receptor
Symbol: TSHR
Synonyms: lang: en
text: LGR3
GeneType: Name: gene with protein product
Rare disease: Phelan-McDermid syndrome due to 22q13.3 deletion (Orphanet code 662169)
Associated genes:
Name: SH3 and multiple ankyrin repeat domains 3
Symbol: SHANK3
Synonyms: lang: en
text: KIAA1650
lang: en
text: PSAP2
lang: en
text: SPANK-2
lang: en
text: proline rich synapse associated protein 2
lang: en
text: prosap2
lang: en
text: shank postsynaptic density protein
lang: en
text: shank3 postsynaptic density protein
GeneType: Name: gene with protein product
Rare disease: Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome (Orphanet code 662179)
Associated genes:
Name: speckle type BTB/POZ protein
Symbol: SPOP
Synonyms: lang: en
text: BTBD32
lang: en
text: TEF2
GeneType: Name: gene with protein product
Rare disease: Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome (Orphanet code 662175)
Associated genes:
Name: speckle type BTB/POZ protein
Symbol: SPOP
Synonyms: lang: en
text: BTBD32
lang: en
text: TEF2
GeneType: Name: gene with protein product
Rare disease: Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome (Orphanet code 662189)
Associated genes:
Name: heterogeneous nuclear ribonucleoprotein R
Symbol: HNRNPR
Synonyms: lang: en
text: hnRNP-R
GeneType: Name: gene with protein product
Rare disease: Congenital muscular dystrophy-cataract-intellectual disability syndrome (Orphanet code 662184)
Associated genes:
Name: inositol polyphosphate-5-phosphatase K
Symbol: INPP5K
Synonyms: lang: en
text: SKIP
lang: en
text: skeletal muscle and kidney enriched inositol phosphatase
GeneType: Name: gene with protein product
Rare disease: Neurodevelopmental delay-intellectual disability-skeletal defects syndrome (Orphanet code 662198)
Associated genes:
Name: heterogeneous nuclear ribonucleoprotein H2
Symbol: HNRNPH2
Synonyms: lang: en
text: FTP3
lang: en
text: HNRPH'
lang: en
text: hnRNPH'
GeneType: Name: gene with protein product
Rare disease: Subcortical band heterotopia (Orphanet code 99796)
Associated genes:
Name: doublecortin
Symbol: DCX
Synonyms: lang: en
text: DBCN
lang: en
text: DC
lang: en
text: LISX
lang: en
text: SCLH
lang: en
text: XLIS
lang: en
text: doublecortex
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
Name: EMAP like 1
Symbol: EML1
Synonyms: lang: en
text: ELP79
lang: en
text: EMAP
lang: en
text: HuEMAP
GeneType: Name: gene with protein product
Rare disease: Oligodontia (Orphanet code 99798)
Associated genes:
Name: small ubiquitin like modifier 1
Symbol: SUMO1
Synonyms: lang: en
text: GMP1
lang: en
text: OFC10
lang: en
text: PIC1
lang: en
text: SMT3C
lang: en
text: SMT3H3
lang: en
text: SUMO-1
GeneType: Name: gene with protein product
Name: axin 2
Symbol: AXIN2
Synonyms: lang: en
text: DKFZp781B0869
lang: en
text: MGC126582
lang: en
text: axil
lang: en
text: conductin
GeneType: Name: gene with protein product
Name: ectodysplasin A
Symbol: EDA
Synonyms: lang: en
text: ED1-A1
lang: en
text: ED1-A2
lang: en
text: EDA-A1
lang: en
text: EDA-A2
lang: en
text: EDA1
lang: en
text: HED
lang: en
text: XHED
lang: en
text: XLHED
GeneType: Name: gene with protein product
Name: EDAR associated via death domain
Symbol: EDARADD
Synonyms: lang: en
text: CR
lang: en
text: Ectodysplasin-A receptor-associated adapter protein
lang: en
text: crinkled
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: interferon regulatory factor 6
Symbol: IRF6
Synonyms: lang: en
text: OFC6
lang: en
text: VWS1
GeneType: Name: gene with protein product
Name: Wnt family member 10A
Symbol: WNT10A
GeneType: Name: gene with protein product
Name: msh homeobox 1
Symbol: MSX1
Synonyms: lang: en
text: HYD1
lang: en
text: OFC5
GeneType: Name: gene with protein product
Name: paired box 9
Symbol: PAX9
GeneType: Name: gene with protein product
Name: transforming growth factor alpha
Symbol: TGFA
GeneType: Name: gene with protein product
Name: LDL receptor related protein 6
Symbol: LRP6
Synonyms: lang: en
text: ADCAD2
GeneType: Name: gene with protein product
Name: Wnt family member 10B
Symbol: WNT10B
Synonyms: lang: en
text: SHFM6
lang: en
text: WNT-12
GeneType: Name: gene with protein product
Rare disease: Hemimegalencephaly (Orphanet code 99802)
Associated genes:
Name: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
Symbol: PIK3CA
Synonyms: lang: en
text: PI3K
GeneType: Name: gene with protein product
Name: AKT serine/threonine kinase 3
Symbol: AKT3
Synonyms: lang: en
text: PKBG
lang: en
text: PRKBG
lang: en
text: RAC-gamma
lang: en
text: protein kinase B, gamma
GeneType: Name: gene with protein product
Name: mechanistic target of rapamycin kinase
Symbol: MTOR
Synonyms: lang: en
text: FK506 binding protein 12-rapamycin associated protein 2
lang: en
text: FKBP-rapamycin associated protein
lang: en
text: FKBP12-rapamycin complex-associated protein 1
lang: en
text: FLJ44809
lang: en
text: RAFT1
lang: en
text: RAPT1
lang: en
text: dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)
lang: en
text: mammalian target of rapamycin
lang: en
text: rapamycin and FKBP12 target 1
lang: en
text: rapamycin associated protein FRAP2
lang: en
text: rapamycin target protein
GeneType: Name: gene with protein product
Rare disease: Wormian bones-micrognathia-abnormal dentition-progeroid syndrome (Orphanet code 659873)
Associated genes:
Name: LEM domain nuclear envelope protein 2
Symbol: LEMD2
Synonyms: lang: en
text: LEM2
lang: en
text: NET25
lang: en
text: dJ482C21.1
lang: en
text: lamina-associated polypeptide-emerin-MAN1 domain containing 2
GeneType: Name: gene with protein product
Rare disease: Haddad syndrome (Orphanet code 99803)
Associated genes:
Name: paired like homeobox 2B
Symbol: PHOX2B
Synonyms: lang: en
text: NBPhox
lang: en
text: Phox2b
GeneType: Name: gene with protein product
Name: ret proto-oncogene
Symbol: RET
Synonyms: lang: en
text: CDHF12
lang: en
text: CDHR16
lang: en
text: PTC
lang: en
text: RET receptor tyrosine kinase
lang: en
text: RET51
lang: en
text: cadherin-related family member 16
lang: en
text: rearranged during transfection
GeneType: Name: gene with protein product
Name: achaete-scute family bHLH transcription factor 1
Symbol: ASCL1
Synonyms: lang: en
text: ASH1
lang: en
text: HASH1
lang: en
text: bHLHa46
GeneType: Name: gene with protein product
Rare disease: Oculootodental syndrome (Orphanet code 99806)
Associated genes:
Name: fibroblast growth factor 3
Symbol: FGF3
Synonyms: lang: en
text: HBGF-3
lang: en
text: INT-2 proto-oncogene protein
lang: en
text: V-INT2 murine mammary tumor virus integration site oncogene homolog
lang: en
text: murine mammary tumor virus integration site 2, mouse
lang: en
text: oncogene INT2
GeneType: Name: gene with protein product
Name: Fas associated via death domain
Symbol: FADD
Synonyms: lang: en
text: Fas-associating death domain-containing protein
lang: en
text: Fas-associating protein with death domain
lang: en
text: GIG3
lang: en
text: Growth-inhibiting gene 3 protein
lang: en
text: MORT1
lang: en
text: Mediator of receptor-induced toxicity
lang: en
text: growth-inhibiting gene 3 protein
lang: en
text: mediator of receptor-induced toxicity
GeneType: Name: gene with protein product
Rare disease: Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome (Orphanet code 659904)
Associated genes:
Name: proline rich 12
Symbol: PRR12
GeneType: Name: gene with protein product
Rare disease: PEHO-like syndrome (Orphanet code 99807)
Associated genes:
Name: coiled-coil domain containing 88A
Symbol: CCDC88A
Synonyms: lang: en
text: APE
lang: en
text: Akt-phosphorylation enhancer
lang: en
text: FLJ10392
lang: en
text: GIV
lang: en
text: GRDN
lang: en
text: Galpha-interacting vesicle-associated protein
lang: en
text: HkRP1
lang: en
text: girders of actin filaments
lang: en
text: girdin
GeneType: Name: gene with protein product
Rare disease: Familial porencephaly (Orphanet code 99810)
Associated genes:
Name: collagen type IV alpha 1 chain
Symbol: COL4A1
GeneType: Name: gene with protein product
Name: collagen type IV alpha 2 chain
Symbol: COL4A2
Synonyms: lang: en
text: Canstatin
lang: en
text: Collagen type IV alpha 2
lang: en
text: DKFZp686I14213
lang: en
text: FLJ22259
lang: en
text: canstatin
GeneType: Name: gene with protein product
Name: collagen beta(1-O)galactosyltransferase 1
Symbol: COLGALT1
Synonyms: lang: en
text: FLJ22329
lang: en
text: Hydroxylysine galactosyltransferase
lang: en
text: Procollagen galactosyltransferase
GeneType: Name: gene with protein product
Rare disease: Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome (Orphanet code 659975)
Associated genes:
Name: AFG2 AAA ATPase homolog B
Symbol: AFG2B
Synonyms: lang: en
text: FLJ12286
lang: en
text: MGC5347
GeneType: Name: gene with protein product
Rare disease: Cohen-Gibson syndrome (Orphanet code 659396)
Associated genes:
Name: embryonic ectoderm development
Symbol: EED
Synonyms: lang: en
text: HEED
lang: en
text: WAIT-1
lang: en
text: WD protein associating with integrin cytoplasmic tails 1
GeneType: Name: gene with protein product
Rare disease: PRC-2 complex-related overgrowth spectrum (Orphanet code 659387)
Associated genes:
Name: embryonic ectoderm development
Symbol: EED
Synonyms: lang: en
text: HEED
lang: en
text: WAIT-1
lang: en
text: WD protein associating with integrin cytoplasmic tails 1
GeneType: Name: gene with protein product
Name: enhancer of zeste 2 polycomb repressive complex 2 subunit
Symbol: EZH2
Synonyms: lang: en
text: ENX-1
lang: en
text: EZH1
lang: en
text: KMT6
lang: en
text: KMT6A
GeneType: Name: gene with protein product
Name: SUZ12 polycomb repressive complex 2 subunit
Symbol: SUZ12
Synonyms: lang: en
text: CHET9
lang: en
text: JJAZ1
lang: en
text: KIAA0160
GeneType: Name: gene with protein product
Rare disease: Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome (Orphanet code 659609)
Associated genes:
Name: Rac family small GTPase 3
Symbol: RAC3
GeneType: Name: gene with protein product
Rare disease: Imagawa-Matsumoto syndrome (Orphanet code 659463)
Associated genes:
Name: SUZ12 polycomb repressive complex 2 subunit
Symbol: SUZ12
Synonyms: lang: en
text: CHET9
lang: en
text: JJAZ1
lang: en
text: KIAA0160
GeneType: Name: gene with protein product
Rare disease: Harderoporphyria (Orphanet code 659672)
Associated genes:
Name: coproporphyrinogen oxidase
Symbol: CPOX
Synonyms: lang: en
text: CPX
lang: en
text: HCP
lang: en
text: coproporphyria
lang: en
text: homozygous coproporphyria
GeneType: Name: gene with protein product
Rare disease: Dentin dysplasia type I (Orphanet code 99789)
Associated genes:
Name: ssu-2 homolog
Symbol: SSUH2
Synonyms: lang: en
text: fls485
lang: en
text: ssu-2
GeneType: Name: gene with protein product
Name: dentin sialophosphoprotein
Symbol: DSPP
Synonyms: lang: en
text: DMP3
GeneType: Name: gene with protein product
Name: vacuolar protein sorting 4 homolog B
Symbol: VPS4B
Synonyms: lang: en
text: SKD1B
lang: en
text: VPS4-2
GeneType: Name: gene with protein product
Rare disease: Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome (Orphanet code 659702)
Associated genes:
Name: archain 1
Symbol: ARCN1
Synonyms: lang: en
text: COPI coat complex subunit delta
GeneType: Name: gene with protein product
Rare disease: Dentin dysplasia type II (Orphanet code 99791)
Associated genes:
Name: dentin sialophosphoprotein
Symbol: DSPP
Synonyms: lang: en
text: DMP3
GeneType: Name: gene with protein product