Names of Genes on Chromosome 4

Gene Location Syndrome Category
APBB2p13Alzheimer - late onsetAlzheimer Syndrome
UCHL1p13Parkinson disease - otherParkinsonism  
RBPJp15.2Rheumatoid arthritisArthritis
SEPSECSp15.2Pontocerebellar hypoplasiaMicrocephaly
SEPSECSp15.2Thyroid disordersHypothyroidism
AB059369p16.1Autism 18 (AUTS18)Autism spectrum
DRD5p16.1ATTENTION DEFICIT-HYPERACTIVITY DISORDERAutism spectrum
MIR548I2p16.1Autism 18 (AUTS18)Autism spectrum
PPP2R2Cp16.1PROTEIN PHOSPHATASE 2 REGULATORY SUBUNIT B GAMMA ISOFORMAutism spectrum
WFS1p16.1Wolfram syndromeAtaxia spectrum
WFS1p16.1Wolfram syndrome - diabetes mellitusDiabetes
WFSLp16.1WOLFRAM-LIKE SYNDROME AUTOSOMAL DOMINANTAutism spectrum
MSX1p16.2Wolf-Hirschhorn syndromeCleft lip / cleft palate
MSX1p16.2Microcephaly - otherMicrocephaly
BC042823p16.3Autism 18 (AUTS18)Autism spectrum
DQ584669p16.3Autism 18 (AUTS18)Autism spectrum
FAM86EPp16.3Autism 18 (AUTS18)Autism spectrum
FGFR3p16.3Crouzon syndromeCleft lip / cleft palate
HTTp16.3Huntington`s diseaseHuntington`s disease spectrum
LETM1p16.3Microcephaly - otherMicrocephaly
LETM1p16.3Wolf-Hirschhorn syndromeCleft lip / cleft palate
MRT53p16.3MENTAL RETARDATION AUTOSOMAL RECESSIVE 53Autism spectrum
NSD2p16.3Microcephaly - otherMicrocephaly
OTOP1p16.3Autism 18 (AUTS18)Autism spectrum
WHSC1p16.3Wolf-Hirschhorn syndromeCleft lip / cleft palate
CEP135q12Microcephaly 08 primary autosomal recessive (MCPH8)Microcephaly
CLOCKq12Seasonal affective disorderSleep disorders
IGFBP7q12Familial retinal arterial macroaneurysmTachycardia (>100 beats/minute)
UGT2B15q13.2Autism 18 (AUTS18)Autism spectrum
UGT2B17q13.2Autism 18 (AUTS18)Autism spectrum
AFPq13.3Alpha-fetoprotein hereditary persistence (HPAFP)Copper metabolism defects
MUC7q13.3Asthma-related traits (ASRT)Asthma
SCARB2q21.1Action myoclonus renal failurePanic phobia anxiety
SCARB2q21.1Action myoclonus–renal failure syndromeEpilepsy and seizures
SHROOM3q21.1heterotaxy syndromeHeterotaxy
FRAS1q21.21Fraser syndromeCleft lip / cleft palate
COQ2Q21.22Primary coenzyme Q10 deficiencyAtaxia spectrum
COQ2q21.22Multiple system atrophyAtaxia spectrum
WDFY3q21.23Autism 18 (AUTS18)Autism spectrum
AFF1q21.3Fragile XE syndromeAutism spectrum
GFAPq21.31Alexander diseaseAtaxia spectrum
SNCAq22.1Parkinson disease - other Parkinsonism 
SNCAq22.1Multiple system atrophyAtaxia spectrum
GRID2q22.1-2Spinocerebellar ataxia autosomal recessive type 18Ataxia spectrum
ADH1Cq23Parkinson disease susceptabilityParkinsonism
AUTS19q23AUTISMAutism spectrum
EIF4Eq23Eukaryotic translation error syndromeAutism spectrum
MTTPq23AbetalipoproteinemiaAtaxia spectrum
TRMT10Aq23Microcephaly short stature and impaired glucose metabolismMicrocephaly
CISD2q24Wolfram syndrome - diabetes mellitusDiabetes
CISD2q24Wolfram syndromeAtaxia spectrum
IECEE1q24EPILEPTIC ENCEPHALOPATHY INFANTILE OR EARLY CHILDHOOD 1Autism spectrum
TBCKq24Hypotonia infantile with psychomotor retardation and characteristic facies 3Autism spectrum
CENPEq24-q25Microcephaly 13 primary autosomal recessive (MCPH13)Microcephaly
COL25A1q25Alzheimer - late onsetAlzheimer Syndrome
HADHq25Congenital hyperinsulinismDiabetes
HADHq253-hydroxyacyl-CoA dehydrogenase deficiencyReye`s Syndrome-like diseases
ANK2q25-q27Romano-Ward syndromeBradycardia (<60 beats/minute)
IL2q27Rheumatoid arthritisArthritis
IL2q27Ulcerative colitisIrritable Bowel Disorders
IL21q27Rheumatoid arthritisArthritis
PRDM5q27Autism 18 (AUTS18)Autism spectrum
MRT29q27-q28.2MENTAL RETARDATION AUTOSOMAL RECESSIVE 29Autism spectrum
PLK4q28Microcephaly and chorioretinopathy autosomal recessive 2 (MCCRP2)Microcephaly
FAT4q28.1Microcephaly - otherMicrocephaly
SPATA5q28.1Epilepsy hearing loss and mental retardation syndromeEpilepsy and seizures
MFSD8q28.2CLN7 diseaseAtaxia spectrum
PCDH10q28.3PROTOCADHERIN 10Autism spectrum
MRD50q31.1MENTAL RETARDATION AUTOSOMAL DOMINANT 50Autism spectrum
NAA15q31.1 Autism 18 (AUTS18)Autism spectrum
MMAAq31.21methylmalonic acidemiaVitamin B12 metabolism spectrum
MAB21L2q31.3MAB21 C. ELEGANS HOMOLOG-LIKE 2Autism spectrum
MCSKSq31.3MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROMEAutism spectrum
GLRBq32.1hereditary hyperekplexiaEpilepsy and seizures
LRATq32.1Leber congenital amaurosisPhotophobia - sensitivity to light
NEK1q33Short-rib thoracic dysplasia 13Cleft lip / cleft palate
SLC25A4q35.1Progressive external ophthalmoplegiaAtaxia spectrum


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