KEGG    Network variation - IgSF CAM signaling
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ENTRYnt06546
NameIgSF CAM signaling
CategoryPathway view; Cellular process
Pathwayhsa04517 IgSF CAM signaling
hsa04514 Cell adhesion molecules
hsa04360 Axon guidance
hsa04520 Adherens junction
hsa04530 Tight junction
Display drug-target relation   disease type
N01933    (NRCAM,NFASC,CNTN1..=NRCAM(ANK2/3+SPTAN1+SPT..
N01934    (L1CAM,CNTN1/2)=L1CAM(ANK2/3+SPTAN1+SPT..
N01935    (GLDN,NRCAM,(CNTN1..=NFASC(ANK2/3+SPTAN1+SPT..
    LCCS11 GLDN*
    NEDNMS   NRCAM*
    SPG1/MASA/HSAS   L1CAM*
    NEDCPMD   NFASC*
    LQT4     ANK2*
    MRT37     ANK3*
    SPG91/DEE5/HMND11/DEVEP     SPTAN1*
    DDISBA     SPTBN1*
    SCA5/SCAR14     SPTBN2*
    CMND     SPTBN4*
    DEE7/BFNS1     KCNQ2*
    BFNS2     KCNQ3*
    BFIS5/MYOCL2/CIAT     SCN8A*
    DEE13     SCN8A*
 
N01936    (CNTN1,NFASC,L1CAM..=CNTN1+CNTNAP1(EPB41L3+SPTAN1+SP..
N01937    (CNTN2,L1CAM,NRCAM..=CNTN2+CNTNAP2(EPB41L3+SPTAN1+SP..
    AD1/CAA APP*
    CMYO12   CNTN1*
    LCCS7/CHN3   CNTNAP1*
    FAME5   CNTN2*
    PTHSL1/AUTS15   CNTNAP2*
    EA1     KCNA1*
    DEE32     KCNA2*
    DEE32     KCNA2*
    MCIDDS     KCNA4*
 
N01938    MPZ=MPZ(PMP22,PMP2,MBP)
    CMT1B/2I/2J/4E/RLS/CHN2/DSD   MPZ*
    CMT1B   MPZ*
    CMT1E/RLS/HNPP/GBS/DSD     PMP22*
    CMT1A     PMP22*
    CMT1G     PMP2*
 
N01939    Ganglioside=MAG(TUBA+TUBB),DYNLL1
    SPG75   MAG*
 
N01940    NTN1=DCC(PTK2,PLCG,(NCK1,P..
N01941    NTN1=(UNC5+DCC)PTPN11
    MRMV4 NTN1*
    ESCC/CRC/MRMV1/HGPPS2   DCC*
    NS1/JMML/LPRD1     PTPN11*
 
N01942    SLIT1/2=ROBO1/2(SRGAP,ABL1,AKT)
N01943    SLIT2=ROBO2(NPHS1+NCK1)(WASL+PAK)(ACTB,ACTG1)
N01944    SLIT2=ROBO2SRGAP1(MYH9/10/14+MYL9/1..
N01945    SLIT2/3=ROBO1/4(CDC42,(PXN,GIT1),..
    NYS8/CPHD8/NORS   ROBO1*
    VUR2   ROBO2*
      ROBO4*
    NMTC2     SRGAP1*
    CHDSKM     ABL1*
    TKS     CDC42*
    IDDMSSD       PAK1*
    KNO2       PAK2*
    XLID30       PAK3*
    MATINS/DFNA17       MYH9*
    DFNA4A/PNMHH       MYH14*
    MMIHS4       MYL9*
 
N01961    (NPHS1,NEPH1/2)=(NPHS1,NEPH1/2)(NPHS2,CD2AP,TRPC6..
    NPHS1   NPHS1*
    NPHS23   NEPH1*
    NPHS2     NPHS2*
    FSGS3     CD2AP*
    FSGS2     TRPC6*
 
N01962    (LFA1,MAC1,FG)=ICAM1(ERM+ACTN+(ACTB,AC..
N01965    (LFA1,MAC1,CD209)=ICAM2(ERM+ACTN+(ACTB,AC..
N01966    (LFA1,CD209)=ICAM3(ERM+ACTN+(ACTB,AC..
    Afibrinogenemia/Amyloidosis/AMYLD2 FGA*
    Afibrinogenemia FGB*
    Afibrinogenemia FGG*
    TB/HIV susceptibility CD209*
    Malaria susceptibility   ICAM1*
    DFNB24     RDX*
    IMD50     MSN*
    BDPLT15     ACTN1*
    CMD1AA/CMH23/MPD6/CMYO8     ACTN2*
    FSGS1     ACTN4*
 
N01967    SLAMF=SLAMF((SH2D1A,SH2D1B)+(..
    RA   SLAMF4*
    XLP1     SH2D1A*
    OPS     SHIP2*
    BCC1/CMAVM1     RASA1*
 
N01956    (JAM1,(ITGA5+ITGB3..=JAM1(AFDN,RAPGEF2/6),(..
N01957    (JAM2/3,VLA4)=JAM2(PARD3/6+PRKCI),TJ..
N01958    (JAM2/3,CXADR,MAC1..=JAM3(PARD3/6+PRKCI),TJ..
N01959    ESAM=ESAMMAGI1
N01960    CLMP=CLMPTJP1
    GT2 ITGB3*
    BDPLT24 ITGB3*
    LAD1 ITGB2*
    IBGC8   JAM2*
    HDBSCC   JAM3*
    NEDIHSS   ESAM*
    CSBS   CLMP*
    PFIC4/FHCA1     TJP2*
 
N01946    (HSPG,PTPRF/D/S,NG..=PTPRF(PPFIA,CASKIN+CASK..
N01947    (HSPG,PTPRF/D/S,NG..=PTPRS(PPFIA,CASKIN+CASK..
N01948    (HSPG,PTPRF/D/S,NG..=PTPRD(PPFIA,CASKIN+CASK..
    SGBS1 GPC3*
    KPTS GPC4*
    OMOD1 GPC6*
    SJS/DDSH HSPG2*
    TS/TTM SLITRK1*
    XLID111 SLITRK2*
    DFNMYP SLITRK6*
    XLID21 IL1RAPL1*
    AS/AUTSX1 NLGN3*
    BNAH   PTPRF*
    NEDPACH     PPFIA3*
    FGS4/MICPCH     CASK*
    MRD44     TRIO*
    MRD63     TRIO*
 
N01949    (NECTIN1/3/4,CD96)=NECTIN1AFDN
N01950    (NECTIN2/3,PVRIG,T..=NECTIN2AFDN
N01951    (NECTIN1/2/3,NECL5..=NECTIN3AFDN
N01952    NECTIN1/4=NECTIN4AFDN
N01953    (NECTIN1,NECL1/2/3..=NECL1(MPP3,PALS2,EPB41L..(ACTB,ACTG1)
N01954    (NECTIN3,NECL1/2/3..=NECL2(MPP3,PALS2,EPB41L..(ACTB,ACTG1)
N01955    (NECTIN1,NECL5)=CD96
    OFC7/CLPED1   NECTIN1*
    EDSS   NECTIN4*
    CMT2FF   NECL1*
    C Syndrome   CD96*
    MRD11     EPB41L1*

Disease nameDisease category
LCCS11H00865Lethal congenital contractural syndromeCongenital malformation
NEDNMSH02397Neurodevelopmental disorder with movement abnormalities or hypotoniaCongenital malformation
SPG1/MASA/HSASH00266Hereditary spastic paraplegiaNervous system disease
H01034L1 syndromeCongenital malformation
H02178MASA syndromeNervous system disease
H02458Hydrocephalus due to congenital stenosis of aqueduct of SylviusCongenital malformation
NEDCPMDH02459Syndromic neurodevelopmental disorderCongenital malformation
LQT4H00720Long QT syndromeCardiovascular disease
MRT37H00768Autosomal recessive intellectual developmental disorderMental and behavioural disorder
SPG91/DEE5/HMND11/DEVEPH00266Hereditary spastic paraplegiaNervous system disease
H00606Early infantile epileptic encephalopathyNervous system disease
H00856Distal hereditary motor neuropathiesNervous system disease
H02989Developmental delay with or without epilepsyNervous system disease
DDISBAH02685Developmental delay with neuropsychiatric disordersCongenital malformation
SCA5/SCAR14H00063Spinocerebellar ataxia (SCA)Neurodegenerative disease
H01891Autosomal recessive spinocerebellar ataxiasNeurodegenerative disease
CMNDH01810Congenital myopathyNervous system disease
DEE7/BFNS1H00606Early infantile epileptic encephalopathyNervous system disease
H00806Benign familial neonatal seizureNervous system disease
BFNS2H00806Benign familial neonatal seizureNervous system disease
BFIS5/MYOCL2/CIATH02362Benign familial infantile seizureNervous system disease
H02789Familial myoclonusNervous system disease
H02980Cognitive impairment with or without cerebellar ataxiaNervous system disease
DEE13H00606Early infantile epileptic encephalopathyNervous system disease
AD1/CAAH00056Alzheimer diseaseNeurodegenerative disease
H01185Cerebral amyloid angiopathyNeurodegenerative disease
CMYO12H01810Congenital myopathyNervous system disease
LCCS7/CHN3H00865Lethal congenital contractural syndromeCongenital malformation
H02357Congenital hypomyelinating neuropathyNervous system disease
FAME5H02213Familial adult myoclonic epilepsyNervous system disease
PTHSL1/AUTS15H00756Pitt-Hopkins syndromeCongenital malformation
H02111AutismMental and behavioural disorder
EA1H00749Episodic ataxiasNervous system disease
DEE32H00606Early infantile epileptic encephalopathyNervous system disease
MCIDDSH02132Microcephaly syndromeCongenital malformation
CMT1B/2I/2J/4E/RLS/CHN2/DSDH00264Charcot-Marie-Tooth diseaseNeurodegenerative disease
H01155Roussy-Levy syndromeNervous system disease
H02357Congenital hypomyelinating neuropathyNervous system disease
H02359Dejerine-Sottas diseaseNervous system disease
CMT1BH00264Charcot-Marie-Tooth diseaseNeurodegenerative disease
CMT1E/RLS/HNPP/GBS/DSDH00264Charcot-Marie-Tooth diseaseNeurodegenerative disease
H01155Roussy-Levy syndromeNervous system disease
H01296Hereditary neuropathy with liability to pressure palsiesNervous system disease
H01436Guillain-Barre syndromeNervous system disease
H02359Dejerine-Sottas diseaseNervous system disease
CMT1AH00264Charcot-Marie-Tooth diseaseNeurodegenerative disease
CMT1GH00264Charcot-Marie-Tooth diseaseNeurodegenerative disease
SPG75H00266Hereditary spastic paraplegiaNervous system disease
MRMV4H01287Congenital mirror movementsNervous system disease
ESCC/CRC/MRMV1/HGPPS2H00017Esophageal cancerCancer
H00020Colorectal cancerCancer
H01287Congenital mirror movementsNervous system disease
H02450Horizontal gaze palsy with progressive scoliosisNervous system disease
NS1/JMML/LPRD1H01738Noonan syndromeCongenital malformation
H02541Juvenile myelomonocytic leukemiaCancer
H01984Leopard syndromeCongenital malformation
NYS8/CPHD8/NORSH00776Congenital motor nystagmus (CMN)Nervous system disease
H02036Combined pituitary hormone deficiencyEndocrine and metabolic disease
H02981Neurooculorenal syndromeCongenital malformation
VUR2H01037Vesicoureteral refluxUrinary system disease
AOVD3H00554Aortic valve diseaseCongenital malformation
NMTC2H00032Thyroid cancerCancer
CHDSKMH02982Congenital heart defects and skeletal malformations syndromeCongenital malformation
TKSH02667Takenouchi-Kosaki syndromeCongenital malformation
IDDMSSDH02463Syndromic intellectual developmental disorderMental and behavioural disorder
KNO2H02074Knobloch syndromeCongenital malformation
XLID30H00480X-linked intellectual developmental disorderMental and behavioural disorder
MATINS/DFNA17H00233MYH9-related diseaseCardiovascular disease
H00604Deafness, autosomal dominantNervous system disease
DFNA4A/PNMHHH00604Deafness, autosomal dominantNervous system disease
H02817Peripheral neuropathy, myopathy, hoarseness, and hearing lossNervous system disease
MMIHS4H01869Megacystis microcolon intestinal hypoperistalsis syndromeCongenital malformation
NPHS1H01657Nephrotic syndromeUrinary system disease
NPHS23H01657Nephrotic syndromeUrinary system disease
NPHS2H01657Nephrotic syndromeUrinary system disease
FSGS3H00626Focal segmental glomerulosclerosisUrinary system disease
FSGS2H00626Focal segmental glomerulosclerosisUrinary system disease
Afibrinogenemia/Amyloidosis/AMYLD2H00222Congenital fibrinogen deficiencyHematologic disease
H00845Familial amyloidosisNervous system disease
AfibrinogenemiaH00222Congenital fibrinogen deficiencyHematologic disease
TB/HIV susceptibilityH00342TuberculosisBacterial infectious disease
H01563HIV infectionViral infectious disease
Malaria susceptibilityH00361MalariaParasitic infectious disease
DFNB24H00605Deafness, autosomal recessiveNervous system disease
IMD50H00093Combined immunodeficiencyPrimary immunodeficiency
BDPLT15H01235Bleeding disorder platelet-typeHematologic disease
CMD1AA/CMH23/MPD6/CMYO8H00292Hypertrophic cardiomyopathyCardiovascular disease
H00294Dilated cardiomyopathyCardiovascular disease
H00594Distal myopathyNervous system disease
H01810Congenital myopathyNervous system disease
FSGS1H00626Focal segmental glomerulosclerosisUrinary system disease
RAH00630Rheumatoid arthritisImmune system disease
XLP1H01969X-linked lymphoproliferative syndromePrimary immunodeficiency
OPSH01828OpsismodysplasiaCongenital malformation
BCC1/CMAVM1H00039Basal cell carcinomaCancer
H02043Capillary malformation-arteriovenous malformationCongenital malformation
GT2H00226Glanzmann thrombastheniaHematologic disease
BDPLT24H01235Bleeding disorder platelet-typeHematologic disease
LAD1H00099Leukocyte adhesion deficiencyPrimary immunodeficiency
IBGC8H01574Familial idiopathic basal ganglia calcificationNervous system disease
HDBSCCH01301Hemorrhagic destruction of the brain, subependymal calcification, and cataractsNervous system disease
NEDIHSSH02988Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticityCongenital malformation
CSBSH01477Congenital short bowel syndromeCongenital malformation
PFIC4/FHCA1H00624Progressive familial intrahepatic cholestasisInherited metabolic disorder
H01935Familial hypercholanemiaInherited metabolic disorder
SGBS1H01215Simpson-Golabi-Behmel syndromeCongenital malformation
KPTSH02326Keipert syndromeCongenital malformation
OMOD1H02154OmodysplasiaCongenital malformation
SJS/DDSHH01777Schwartz-Jampel syndromeNervous system disease
H02155Dyssegmental dysplasiaCongenital malformation
TS/TTMH00862Tourette syndromeMental and behavioural disorder
H00864TrichotillomaniaMental and behavioural disorder
XLID111H00480X-linked intellectual developmental disorderMental and behavioural disorder
DFNMYPH02355Deafness and myopiaNervous system disease
XLID21H00480X-linked intellectual developmental disorderMental and behavioural disorder
AS/AUTSX1H01882Asperger syndromeMental and behavioural disorder
H02111AutismMental and behavioural disorder
BNAHH02811Aplasia or hypoplasia of the breasts and/or nipplesCongenital malformation
NEDPACHH02911Paul-Chao neurodevelopmental syndromeCongenital malformation
FGS4/MICPCHH00894FG syndromeCongenital malformation
H01921MICPCH syndromeCongenital malformation
MRD44H00773Autosomal dominant intellectual developmental disorderMental and behavioural disorder
MRD63H00773Autosomal dominant intellectual developmental disorderMental and behavioural disorder
OFC7/CLPED1H00516Cleft lip and/or cleft palateCongenital malformation
H02456Ectodermal dysplasiaCongenital malformation
EDSSH00647Ectodermal dysplasia-syndactyly syndromeCongenital malformation
CMT2FFH00264Charcot-Marie-Tooth diseaseNeurodegenerative disease
C SyndromeH01008C syndromeCongenital malformation
MRD11H00773Autosomal dominant intellectual developmental disorderMental and behavioural disorder