Names of Genes on Chromosome 9

Gene Location Syndrome Category
EXOSC3p11Pontocerebellar hypoplasiaMicrocephaly
TPM2p13Distal arthrogryposis type 1Arthrogryposis spectrum
PAX5p13.2Autism 18 (AUTS18)Autism spectrum
CCL21p13.3Rheumatoid arthritisArthritis
DNAI1p13.3heterotaxy syndromeHeterotaxy
FANCGp13.3Microcephaly - otherMicrocephaly
GALTp13.3Galactosemia (type I)Galactosemia
MRT61p13.3MENTAL RETARDATION AUTOSOMAL RECESSIVE 61Autism spectrum
PIGOp13.3Mabry syndromeAutism spectrum
RMRPp13.3Gluten allergyGluten intolerance
SIGMAR1p13.3ALSALS - amyotrophic lateral sclerosis
VCPp13.3ALSALS - amyotrophic lateral sclerosis
APTXp21.1Ataxia with oculomotor apraxiaAtaxia spectrum
C9orf72p21.2ALSALS - amyotrophic lateral sclerosis
IFT74p21.2ALSALS - amyotrophic lateral sclerosis
TYRP1p23Oculocutaneous albinism type 3Photophobia - sensitivity to light
MACIDp23-p22MACROCEPHALY ACQUIRED WITH IMPAIRED INTELLECTUAL DEVELOPMENTAutism spectrum
GLDCp24.1GLYCINE ENCEPHALOPATHYAutism spectrum
JAK2p24.1Crohn DiseaseIrritable Bowel Disorders
PTPRDp24.1Restless legs syndromeSleep disorders
GLIS3p24.2Congenital hypothyroidismHypothyroidism
GLIS3p24.2Diabetes mellitus neonatal with congenital hypothyroidismDiabetes
VLDLRp24.2VLDLR-associated cerebellar hypoplasiaAtaxia spectrum
DOCK8p24.3Autosomal recessive hyper-IgE syndrome (AR-HIES)Asthma
KANK1p24.3Cerebral palsy spastic quadriplegic type 2 (CPSQ2) disorderCerebral palsy
NCBRSp24.3NICOLAIDES-BARAITSER SYNDROMEAutism spectrum
SMARCA2p24.3Microcephaly - otherMicrocephaly
AK308561q13Autism 18 (AUTS18)Autism spectrum
BC080605q13Autism 18 (AUTS18)Autism spectrum
LOC642236q13Autism 18 (AUTS18)Autism spectrum
FXNq21.11Friedreich ataxiaAtaxia spectrum
EIG15q21.13EPILEPSY IDIOPATHIC GENERALIZED SUSCEPTIBILITY TO 15Autism spectrum
VPS13Aq21.2Chorea-acanthocytosisPanic phobia anxiety
EIEE58q21.33EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 58Autism spectrum
OBHDq21.33OBESITY HYPERPHAGIA AND DEVELOPMENTAL DELAYAutism spectrum
TGFBR1q22Loeys-Dietz syndromeAsthma
SECISBP2q22.2Thyroid disordersHypothyroidism
AUHq22.313-methylglutaconyl-CoA hydratase deficiencyAtaxia spectrum
PHF2q22.31 Autism 18 (AUTS18)Autism spectrum
FANCCq22.32Microcephaly - otherMicrocephaly
PTCH1q22.32Microcephaly - otherMicrocephaly
EIEE59q22.33EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 59Autism spectrum
FOXE1q22.33Thyroid disordersHypothyroidism
NDPLHSq22.33NEURODEVELOPMENTAL DISORDER 04Autism spectrum
TDRD7q22.33Cataract 36 (CTRCT36)Cataracts
ABCA1q31.1Type 2 DiabetesDiabetes
NR4A3q31.1Thyroid disordersHypothyroidism
ZNF462q31.2Mental retardation autosomal dominant 40Autism spectrum
GSNq33Lattice corneal dystrophy type IICerebral palsy
C5q33.2Rheumatoid arthritisArthritis
CDK5RAP2q33.2Autosomal recessive primary microcephalyMicrocephaly
TRAF1q33.2Rheumatoid arthritisArthritis
ADAMTS13q34Thrombotic thrombocytopenic purpuraTachycardia (>100 beats/minute)
TSC1q34Tuberous sclerosis complexAutism spectrum
ASS1q34.11CitrullinemiaAtaxia spectrum
COQ4Q34.11Primary coenzyme Q10 deficiencyAtaxia spectrum
GLE1q34.11Lethal arthrogryposis with anterior horn cell diseaseArthrogryposis spectrum
MIR2861q34.11Thyroid disordersHypothyroidism
STXBP1q34.11STXBP1 encephalopathy with epilepsyEpilepsy and seizures
WDR34q34.11Short-rib thoracic dysplasia 13Cleft lip / cleft palate
ABL1q34.12Acute lymphoblastic leukemiaLeukemia
MDDGB1q34.13MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY TYPE B 1Autism spectrum
MED27q34.13Autism 18 (AUTS18)Autism spectrum
POMT1q34.13Walker-Warburg syndromeMicrophthalmia
RAPGEF1q34.13Cerebral palsy - unassignedCerebral palsy
SETXq34.13Ataxia with oculomotor apraxiaAtaxia spectrum
SETXq34.13ALSALS - amyotrophic lateral sclerosis
RPL7Aq34.2Thyroid disordersHypothyroidism
AGPAT2q34.3Type 2 DiabetesDiabetes
EHMT1q34.3Kleefstra sndromeAutism spectrum
EHMT1q34.3Microcephaly - otherMicrocephaly
GRIN1q34.3GLUTAMATE RECEPTOR IONOTROPIC N-METHYL-D-ASPARTATE SUBUNIT 1Autism spectrum
JBTS1q34.3JOUBERT SYNDROME 1Autism spectrum
KCNT1q34.3Autosomal dominant nocturnal frontal lobe epilepsyEpilepsy and seizures
KCNT1q34.3Microcephaly - otherMicrocephaly
KLEFS1q34.3KLEEFSTRA SYNDROME 1Autism spectrum
MRT15q34.3MENTAL RETARDATION AUTOSOMAL RECESSIVE 15Autism spectrum
NDHMSDq34.3NEURODEVELOPMENTAL DISORDER 01Autism spectrum
NDHMSRq34.3NEURODEVELOPMENTAL DISORDER 02Autism spectrum
PMPCAq34.3Spinocerebellar ataxia autosomal recessive type 02Ataxia spectrum


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