TaoMedAI/RareMedData huggingface dataset:
Rare disease: Dysosteosclerosis (Orphanet code 1782)
Associated genes:
Name: TNF receptor superfamily member 11a
Symbol: TNFRSF11A
Synonyms: lang: en
text: CD265
lang: en
text: FEO
lang: en
text: ODFR
lang: en
text: RANK
lang: en
text: TRANCE receptor
lang: en
text: TRANCE-R
lang: en
text: familial expansile osteolysis
lang: en
text: osteoclast differentiation factor receptor
lang: en
text: receptor activator of nuclear factor kappa B
GeneType: Name: gene with protein product
Name: T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
Symbol: TCIRG1
Synonyms: lang: en
text: ATP6N1C
lang: en
text: ATP6V0A3
lang: en
text: Atp6i
lang: en
text: OC-116
lang: en
text: OC116
lang: en
text: T-cell immune response cDNA 7
lang: en
text: TIRC7
lang: en
text: V-ATPase subunit a3
lang: en
text: a3
GeneType: Name: gene with protein product
Name: solute carrier family 29 member 3
Symbol: SLC29A3
Synonyms: lang: en
text: ENT3
lang: en
text: FLJ11160
lang: en
text: hENT3
GeneType: Name: gene with protein product
Rare disease: Acrofacial dysostosis, Rodríguez type (Orphanet code 1788)
Associated genes:
Name: splicing factor 3b subunit 4
Symbol: SF3B4
Synonyms: lang: en
text: Hsh49
lang: en
text: SAP49
lang: en
text: SF3b49
GeneType: Name: gene with protein product
Rare disease: Transcobalamin deficiency (Orphanet code 859)
Associated genes:
Name: transcobalamin 2
Symbol: TCN2
Synonyms: lang: en
text: D22S676
lang: en
text: D22S750
lang: en
text: TC2
lang: en
text: macrocytic anemia
GeneType: Name: gene with protein product
Rare disease: Hypomyelination with atrophy of basal ganglia and cerebellum (Orphanet code 139441)
Associated genes:
Name: tubulin beta 4A class IVa
Symbol: TUBB4A
Synonyms: lang: en
text: beta-5
lang: en
text: class IVa beta-tubulin
GeneType: Name: gene with protein product
Name: ubiquitin fold modifier 1
Symbol: UFM1
Synonyms: lang: en
text: bA131P10.1
GeneType: Name: gene with protein product
Rare disease: Progressive cavitating leukoencephalopathy (Orphanet code 139447)
Associated genes:
Name: NADH:ubiquinone oxidoreductase core subunit V2
Symbol: NDUFV2
Synonyms: lang: en
text: CI-24k
lang: en
text: NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial
lang: en
text: complex I 24kDa subunit
GeneType: Name: gene with protein product
Rare disease: Hypotrichosis with juvenile macular degeneration (Orphanet code 1573)
Associated genes:
Name: cadherin 3
Symbol: CDH3
Synonyms: lang: en
text: CDHP
lang: en
text: P-cadherin
lang: en
text: PCAD
GeneType: Name: gene with protein product
Rare disease: Alpers-Huttenlocher syndrome (Orphanet code 726)
Associated genes:
Name: DNA polymerase gamma, catalytic subunit
Symbol: POLG
Synonyms: lang: en
text: POLG1
lang: en
text: POLGA
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive bestrophinopathy (Orphanet code 139455)
Associated genes:
Name: bestrophin 1
Symbol: BEST1
Synonyms: lang: en
text: BEST
lang: en
text: BMD
lang: en
text: Best disease
lang: en
text: RP50
GeneType: Name: gene with protein product
Rare disease: SERKAL syndrome (Orphanet code 139466)
Associated genes:
Name: Wnt family member 4
Symbol: WNT4
Synonyms: lang: en
text: WNT-4
GeneType: Name: gene with protein product
Rare disease: Distal deletion 15q (Orphanet code 1596)
Associated genes:
Name: multiple C2 and transmembrane domain containing 2
Symbol: MCTP2
Synonyms: lang: en
text: FLJ11175
lang: en
text: FLJ33303
GeneType: Name: gene with protein product
Rare disease: Microphthalmia with brain and digit anomalies (Orphanet code 139471)
Associated genes:
Name: bone morphogenetic protein 4
Symbol: BMP4
GeneType: Name: gene with protein product
Rare disease: 17q11.2 microduplication syndrome (Orphanet code 139474)
Associated genes:
Name: neurofibromin 1
Symbol: NF1
Synonyms: lang: en
text: Watson disease
lang: en
text: neurofibromatosis
lang: en
text: von Recklinghausen disease
GeneType: Name: gene with protein product
Rare disease: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion (Orphanet code 1617)
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
Name: T-box brain transcription factor 1
Symbol: TBR1
GeneType: Name: gene with protein product
Rare disease: 1p36 deletion syndrome (Orphanet code 1606)
Associated genes:
Name: arginine-glutamic acid dipeptide repeats
Symbol: RERE
Synonyms: lang: en
text: ARG
lang: en
text: ARP
lang: en
text: ATN2
lang: en
text: DNB1
lang: en
text: KIAA0458
lang: en
text: atrophin 2
GeneType: Name: gene with protein product
Name: protein kinase C zeta
Symbol: PRKCZ
Synonyms: lang: en
text: PKC2
GeneType: Name: gene with protein product
Name: ubiquitination factor E4B
Symbol: UBE4B
Synonyms: lang: en
text: E4
lang: en
text: KIAA0684
lang: en
text: UBOX3
lang: en
text: UFD2
GeneType: Name: gene with protein product
Name: matrix metallopeptidase 23B
Symbol: MMP23B
Synonyms: lang: en
text: MIFR
lang: en
text: MIFR-1
lang: en
text: femalysin
lang: en
text: matrix metalloproteinase 22
lang: en
text: matrix metalloproteinase in the female reproductive tract
GeneType: Name: gene with protein product
Name: gamma-aminobutyric acid type A receptor subunit delta
Symbol: GABRD
Synonyms: lang: en
text: GABA(A) receptor, delta
lang: en
text: GABAARdelta
GeneType: Name: gene with protein product
Name: SKI proto-oncogene
Symbol: SKI
Synonyms: lang: en
text: Sloan-Kettering Institute proto-oncogene
GeneType: Name: gene with protein product
Name: potassium voltage-gated channel subfamily A regulatory beta subunit 2
Symbol: KCNAB2
Synonyms: lang: en
text: AKR6A5
lang: en
text: HKvbeta2.1
lang: en
text: HKvbeta2.2
lang: en
text: KCNA2B
GeneType: Name: gene with protein product
Name: PR/SET domain 16
Symbol: PRDM16
Synonyms: lang: en
text: KIAA1675
lang: en
text: KMT8F
lang: en
text: MDS1/EVI1-like
lang: en
text: MEL1
lang: en
text: MGC166915
lang: en
text: PFM13
lang: en
text: PR-domain zinc finger protein 16
lang: en
text: Transcription factor MEL1
lang: en
text: transcription factor MEL1
GeneType: Name: gene with protein product
Name: castor zinc finger 1
Symbol: CASZ1
Synonyms: lang: en
text: FLJ20321
lang: en
text: SRG
lang: en
text: ZNF693
lang: en
text: castor
lang: en
text: cst
lang: en
text: survival related gene
lang: en
text: zinc finger protein 693
GeneType: Name: gene with protein product
Name: spen family transcriptional repressor
Symbol: SPEN
Synonyms: lang: en
text: KIAA0929
lang: en
text: MINT
lang: en
text: RBM15C
lang: en
text: SHARP
GeneType: Name: gene with protein product
Name: podoplanin
Symbol: PDPN
Synonyms: lang: en
text: D2-40
lang: en
text: GP40
lang: en
text: Gp38
lang: en
text: PA2.26
lang: en
text: T1A-2
lang: en
text: aggrus
lang: en
text: lung type I cell membrane associated glycoprotein
GeneType: Name: gene with protein product
Name: leucine zipper protein 1
Symbol: LUZP1
Synonyms: lang: en
text: LUZP
GeneType: Name: gene with protein product
Name: heparan sulfate proteoglycan 2
Symbol: HSPG2
Synonyms: lang: en
text: PRCAN
lang: en
text: endorepellin
lang: en
text: perlecan
lang: en
text: perlecan proteoglycan
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 39 (Orphanet code 139480)
Associated genes:
Name: patatin like phospholipase domain containing 6
Symbol: PNPLA6
Synonyms: lang: en
text: NTE
lang: en
text: SPG39
lang: en
text: SWS
lang: en
text: iPLA2delta
lang: en
text: neuropathy target esterase
lang: en
text: sws
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive ataxia due to ubiquinone deficiency (Orphanet code 139485)
Associated genes:
Name: coenzyme Q8A
Symbol: COQ8A
Synonyms: lang: en
text: COQ8
lang: en
text: SCAR9
lang: en
text: coenzyme Q8 homolog (yeast)
GeneType: Name: gene with protein product
Rare disease: Charcot-Marie-Tooth disease type 4J (Orphanet code 139515)
Associated genes:
Name: FIG4 phosphoinositide 5-phosphatase
Symbol: FIG4
Synonyms: lang: en
text: ALS11
lang: en
text: CMT4J
lang: en
text: SAC3
lang: en
text: dJ249I4.1
lang: en
text: hSac3
GeneType: Name: gene with protein product
Rare disease: Neuropathy with hearing impairment (Orphanet code 139512)
Associated genes:
Name: gap junction protein beta 3
Symbol: GJB3
Synonyms: lang: en
text: CX31
lang: en
text: connexin 31
GeneType: Name: gene with protein product
Rare disease: Distal hereditary motor neuropathy type 2 (Orphanet code 139525)
Associated genes:
Name: heat shock protein family B (small) member 1
Symbol: HSPB1
Synonyms: lang: en
text: CMT2F
lang: en
text: HSP27
lang: en
text: HSP28
lang: en
text: Hs.76067
lang: en
text: Hsp25
GeneType: Name: gene with protein product
Name: heat shock protein family B (small) member 8
Symbol: HSPB8
Synonyms: lang: en
text: CMT2L
lang: en
text: E2IG1
lang: en
text: H11
lang: en
text: HSP22
lang: en
text: HspB8
GeneType: Name: gene with protein product
Name: heat shock protein family B (small) member 3
Symbol: HSPB3
Synonyms: lang: en
text: HSPL27
GeneType: Name: gene with protein product
Name: F-box protein 38
Symbol: FBXO38
Synonyms: lang: en
text: FLJ13962
lang: en
text: Fbx38
lang: en
text: MOKA
lang: en
text: SP329
GeneType: Name: gene with protein product
Rare disease: Absence of fingerprints-congenital milia syndrome (Orphanet code 1658)
Associated genes:
Name: SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
Symbol: SMARCAD1
Synonyms: lang: en
text: DKFZP762K2015
lang: en
text: DKFZp762K2015
lang: en
text: ETL1
lang: en
text: KIAA1122
GeneType: Name: gene with protein product
Rare disease: Distal hereditary motor neuropathy type 5 (Orphanet code 139536)
Associated genes:
Name: receptor accessory protein 1
Symbol: REEP1
Synonyms: lang: en
text: FLJ13110
lang: en
text: SPG31
lang: en
text: Yip2a
lang: en
text: receptor expression enhancing protein 1
GeneType: Name: gene with protein product
Name: BSCL2 lipid droplet biogenesis associated, seipin
Symbol: BSCL2
Synonyms: lang: en
text: seipin
GeneType: Name: gene with protein product
Name: glycyl-tRNA synthetase 1
Symbol: GARS1
Synonyms: lang: en
text: DSMAV
lang: en
text: GlyRS
lang: en
text: SMAD1
lang: en
text: glycine tRNA ligase
GeneType: Name: gene with protein product
Rare disease: X-linked distal spinal muscular atrophy type 3 (Orphanet code 139557)
Associated genes:
Name: ATPase copper transporting alpha
Symbol: ATP7A
Synonyms: lang: en
text: copper pump 1
lang: en
text: copper-transporting ATPase 1
GeneType: Name: gene with protein product
Rare disease: Restrictive dermopathy (Orphanet code 1662)
Associated genes:
Name: zinc metallopeptidase STE24
Symbol: ZMPSTE24
Synonyms: lang: en
text: CAAX prenyl protease 1 homolog
lang: en
text: FACE-1
lang: en
text: HGPS
lang: en
text: Hutchinson-Gilford progeria syndrome
lang: en
text: PRO1
lang: en
text: STE24
lang: en
text: Ste24p
GeneType: Name: gene with protein product
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: Distal hereditary motor neuropathy, Jerash type (Orphanet code 139552)
Associated genes:
Name: sigma non-opioid intracellular receptor 1
Symbol: SIGMAR1
Synonyms: lang: en
text: SR-BP1
GeneType: Name: gene with protein product
Rare disease: X-linked hereditary sensory and autonomic neuropathy with deafness (Orphanet code 139583)
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: Wolcott-Rallison syndrome (Orphanet code 1667)
Associated genes:
Name: eukaryotic translation initiation factor 2 alpha kinase 3
Symbol: EIF2AK3
Synonyms: lang: en
text: PEK
lang: en
text: PERK
lang: en
text: PKR-like ER kinase
lang: en
text: PRKR-like endoplasmic reticulum kinase
lang: en
text: pancreatic eIF-2alpha kinase
GeneType: Name: gene with protein product
Rare disease: Mutilating hereditary sensory neuropathy with spastic paraplegia (Orphanet code 139578)
Associated genes:
Name: chaperonin containing TCP1 subunit 5
Symbol: CCT5
Synonyms: lang: en
text: CCT-epsilon
lang: en
text: CCTE
lang: en
text: KIAA0098
GeneType: Name: gene with protein product
Rare disease: Distal hereditary motor neuropathy type 7 (Orphanet code 139589)
Associated genes:
Name: dynactin subunit 1
Symbol: DCTN1
Synonyms: lang: en
text: p150 glued homolog (Drosophila)
GeneType: Name: gene with protein product
Name: solute carrier family 5 member 7
Symbol: SLC5A7
Synonyms: lang: en
text: CHT1
lang: en
text: ChT
lang: en
text: High affinity choline transporter 1
lang: en
text: hCHT
GeneType: Name: gene with protein product
Rare disease: Stapes ankylosis with broad thumbs and toes (Orphanet code 140917)
Associated genes:
Name: noggin
Symbol: NOG
GeneType: Name: gene with protein product
Rare disease: Titin-related limb-girdle muscular dystrophy R10 (Orphanet code 140922)
Associated genes:
Name: titin
Symbol: TTN
Synonyms: lang: en
text: CMH9
lang: en
text: CMPD4
lang: en
text: FLJ32040
lang: en
text: LGMD2J
lang: en
text: MYLK5
lang: en
text: TMD
GeneType: Name: gene with protein product
Rare disease: Crisponi syndrome (Orphanet code 1545)
Associated genes:
Name: cytokine receptor like factor 1
Symbol: CRLF1
Synonyms: lang: en
text: CISS
lang: en
text: CISS1
lang: en
text: CLF
lang: en
text: CLF-1
lang: en
text: cold-induced sweating syndrome
GeneType: Name: gene with protein product
Name: cardiotrophin like cytokine factor 1
Symbol: CLCF1
Synonyms: lang: en
text: B-cell stimulating factor 3
lang: en
text: BSF-3
lang: en
text: BSF3
lang: en
text: CISS2
lang: en
text: CLC
lang: en
text: NNT-1
lang: en
text: NNT1
lang: en
text: NR6
lang: en
text: cold-induced sweating syndrome 2
lang: en
text: novel neurotrophin-1
GeneType: Name: gene with protein product
Rare disease: Hyperlipidemia due to hepatic triacylglycerol lipase deficiency (Orphanet code 140905)
Associated genes:
Name: lipase C, hepatic type
Symbol: LIPC
Synonyms: lang: en
text: HL
lang: en
text: HTGL
lang: en
text: Triacylglycerol lipase
GeneType: Name: gene with protein product
Rare disease: Jackson-Weiss syndrome (Orphanet code 1540)
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: Brachydactyly type B2 (Orphanet code 140908)
Associated genes:
Name: noggin
Symbol: NOG
GeneType: Name: gene with protein product
Rare disease: Syndactyly-telecanthus-anogenital and renal malformations syndrome (Orphanet code 140952)
Associated genes:
Name: cyclin Q
Symbol: CCNQ
Synonyms: lang: en
text: CycM
lang: en
text: cyclin M
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant macrothrombocytopenia (Orphanet code 140957)
Associated genes:
Name: tubulin alpha 8
Symbol: TUBA8
GeneType: Name: gene with protein product
Name: glycoprotein Ib platelet subunit alpha
Symbol: GP1BA
Synonyms: lang: en
text: CD42b
lang: en
text: GPIbalpha
lang: en
text: platelet glycoprotein Ib alpha chain
GeneType: Name: gene with protein product
Name: transient receptor potential cation channel subfamily M member 7
Symbol: TRPM7
Synonyms: lang: en
text: CHAK1
lang: en
text: LTRPC7
lang: en
text: TRP-PLIK
GeneType: Name: gene with protein product
Name: growth factor independent 1B transcriptional repressor
Symbol: GFI1B
Synonyms: lang: en
text: ZNF163B
GeneType: Name: gene with protein product
Name: glycoprotein Ib platelet subunit beta
Symbol: GP1BB
Synonyms: lang: en
text: CD42c
lang: en
text: GPIbbeta
lang: en
text: platelet glycoprotein Ib beta chain
GeneType: Name: gene with protein product
Name: tropomyosin 4
Symbol: TPM4
GeneType: Name: gene with protein product
Name: integrin subunit alpha 2b
Symbol: ITGA2B
Synonyms: lang: en
text: CD41
lang: en
text: CD41B
lang: en
text: GPIIb
lang: en
text: Integrin alpha-IIb
lang: en
text: PPP1R93
lang: en
text: platelet glycoprotein IIb of IIb/IIIa complex
lang: en
text: protein phosphatase 1, regulatory subunit 93
GeneType: Name: gene with protein product
Name: integrin subunit beta 3
Symbol: ITGB3
Synonyms: lang: en
text: CD61
lang: en
text: GPIIIa
lang: en
text: antigen CD61
lang: en
text: platelet glycoprotein IIIa
GeneType: Name: gene with protein product
Name: tubulin beta 1 class VI
Symbol: TUBB1
Synonyms: lang: en
text: Class VI beta-tubulin
lang: en
text: class VI beta-tubulin
lang: en
text: dJ543J19.4
GeneType: Name: gene with protein product
Name: actinin alpha 1
Symbol: ACTN1
GeneType: Name: gene with protein product
Rare disease: CLOVES syndrome (Orphanet code 140944)
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
Rare disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome (Orphanet code 1555)
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: Short stature due to primary acid-labile subunit deficiency (Orphanet code 140941)
Associated genes:
Name: insulin like growth factor binding protein acid labile subunit
Symbol: IGFALS
Synonyms: lang: en
text: ALS
GeneType: Name: gene with protein product
Rare disease: Curry-Jones syndrome (Orphanet code 1553)
Associated genes:
Name: smoothened, frizzled class receptor
Symbol: SMO
Synonyms: lang: en
text: FZD11
lang: en
text: frizzled family member 11
GeneType: Name: gene with protein product
Rare disease: Benign familial neonatal-infantile seizures (Orphanet code 140927)
Associated genes:
Name: sodium voltage-gated channel alpha subunit 2
Symbol: SCN2A
Synonyms: lang: en
text: HBSCI
lang: en
text: HBSCII
lang: en
text: Nav1.2
GeneType: Name: gene with protein product
Name: potassium voltage-gated channel subfamily Q member 2
Symbol: KCNQ2
Synonyms: lang: en
text: BFNC
lang: en
text: ENB1
lang: en
text: HNSPC
lang: en
text: KCNA11
lang: en
text: Kv7.2
GeneType: Name: gene with protein product
Rare disease: RHYNS syndrome (Orphanet code 140976)
Associated genes:
Name: transmembrane protein 67
Symbol: TMEM67
Synonyms: lang: en
text: JBTS6
lang: en
text: MGC26979
lang: en
text: Meckelin
lang: en
text: NPHP11
GeneType: Name: gene with protein product
Rare disease: Saldino-Mainzer syndrome (Orphanet code 140969)
Associated genes:
Name: intraflagellar transport 140
Symbol: IFT140
Synonyms: lang: en
text: KIAA0590
lang: en
text: gs114
GeneType: Name: gene with protein product
Name: intraflagellar transport 172
Symbol: IFT172
Synonyms: lang: en
text: BBS20
lang: en
text: NPHP17
lang: en
text: SLB
lang: en
text: osm-1
lang: en
text: wim
lang: en
text: wimple homolog
GeneType: Name: gene with protein product
Rare disease: Palmoplantar keratoderma, Nagashima type (Orphanet code 140966)
Associated genes:
Name: serpin family B member 7
Symbol: SERPINB7
Synonyms: lang: en
text: MEGSIN
lang: en
text: megsin
GeneType: Name: gene with protein product
Rare disease: Bilateral microtia-deafness-cleft palate syndrome (Orphanet code 140963)
Associated genes:
Name: homeobox A2
Symbol: HOXA2
GeneType: Name: gene with protein product
Rare disease: Guanidinoacetate methyltransferase deficiency (Orphanet code 382)
Associated genes:
Name: guanidinoacetate N-methyltransferase
Symbol: GAMT
Synonyms: lang: en
text: PIG2
lang: en
text: TP53I2
GeneType: Name: gene with protein product
Rare disease: Prolidase deficiency (Orphanet code 742)
Associated genes:
Name: peptidase D
Symbol: PEPD
Synonyms: lang: en
text: Xaa-Pro dipeptidase
lang: en
text: imidodipeptidase
lang: en
text: prolidase
GeneType: Name: gene with protein product
Rare disease: Knobloch syndrome (Orphanet code 1571)
Associated genes:
Name: p21 (RAC1) activated kinase 2
Symbol: PAK2
Synonyms: lang: en
text: PAK65
lang: en
text: PAKgamma
lang: en
text: S6/H4 kinase
GeneType: Name: gene with protein product
Name: collagen type XVIII alpha 1 chain
Symbol: COL18A1
Synonyms: lang: en
text: KNO1
lang: en
text: KS
lang: en
text: endostatin
GeneType: Name: gene with protein product
Rare disease: X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome (Orphanet code 1568)
Associated genes:
Name: adaptor related protein complex 1 subunit sigma 2
Symbol: AP1S2
Synonyms: lang: en
text: SIGMA1B
GeneType: Name: gene with protein product
Rare disease: X-linked complicated corpus callosum dysgenesis (Orphanet code 1497)
Associated genes:
Name: L1 cell adhesion molecule
Symbol: L1CAM
Synonyms: lang: en
text: CAML1
lang: en
text: CD171
lang: en
text: NCAM-L1
lang: en
text: neural cell adhesion molecule L1
GeneType: Name: gene with protein product
Rare disease: Primary intraosseous venous malformation (Orphanet code 140436)
Associated genes:
Name: engulfment and cell motility 2
Symbol: ELMO2
Synonyms: lang: en
text: CED-12
lang: en
text: CED12
lang: en
text: ELMO-2
lang: en
text: FLJ11656
lang: en
text: KIAA1834
GeneType: Name: gene with protein product
Rare disease: Vici syndrome (Orphanet code 1493)
Associated genes:
Name: ectopic P-granules 5 autophagy tethering factor
Symbol: EPG5
Synonyms: lang: en
text: hEPG5
GeneType: Name: gene with protein product
Rare disease: Coxopodopatellar syndrome (Orphanet code 1509)
Associated genes:
Name: T-box transcription factor 4
Symbol: TBX4
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive Robinow syndrome (Orphanet code 1507)
Associated genes:
Name: receptor tyrosine kinase like orphan receptor 2
Symbol: ROR2
GeneType: Name: gene with protein product
Name: nucleoredoxin
Symbol: NXN
Synonyms: lang: en
text: FLJ12614
lang: en
text: NRX
GeneType: Name: gene with protein product
Rare disease: Cantú syndrome (Orphanet code 1517)
Associated genes:
Name: ATP binding cassette subfamily C member 9
Symbol: ABCC9
Synonyms: lang: en
text: CMD1O
lang: en
text: SUR2
lang: en
text: sulfonylurea receptor 2
GeneType: Name: gene with protein product
Name: potassium inwardly rectifying channel subfamily J member 8
Symbol: KCNJ8
Synonyms: lang: en
text: Kir6.1
GeneType: Name: gene with protein product
Rare disease: SPECC1L-related hypertelorism syndrome (Orphanet code 1519)
Associated genes:
Name: sperm antigen with calponin homology and coiled-coil domains 1 like
Symbol: SPECC1L
Synonyms: lang: en
text: CYTSA
lang: en
text: KIAA0376
lang: en
text: cytokinesis and spindle organization A
GeneType: Name: gene with protein product
Rare disease: Craniofrontonasal dysplasia (Orphanet code 1520)
Associated genes:
Name: ephrin B1
Symbol: EFNB1
Synonyms: lang: en
text: EPH-related receptor tyrosine kinase ligand 2
lang: en
text: Elk-L
lang: en
text: LERK2
GeneType: Name: gene with protein product
Rare disease: Craniodiaphyseal dysplasia (Orphanet code 1513)
Associated genes:
Name: sclerostin
Symbol: SOST
Synonyms: lang: en
text: DAND6
lang: en
text: VBCH
GeneType: Name: gene with protein product
Name: Sp7 transcription factor
Symbol: SP7
Synonyms: lang: en
text: OSX
lang: en
text: osterix
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant slowed nerve conduction velocity (Orphanet code 140481)
Associated genes:
Name: Rho guanine nucleotide exchange factor 10
Symbol: ARHGEF10
Synonyms: lang: en
text: Gef10
lang: en
text: KIAA0294
GeneType: Name: gene with protein product