GENE SYMBOL # PUBMED REF # CANCER LIT DESCRIPTION
CANCER FUSIONS
BCL6 3842 3708 B-CELL LYMPHOMA 6; BCL6, BCL6/H4FM FUSION GENE, INCLUDED
PPARG 1394 263 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, PAX8/PPARG FUSION
LPP 456 26 LIM DOMAIN-CONTAINING PREFERRED TRANSLOCATION PARTNER IN LIPOMA, LPP/MLL FUSION, LPP/HMGIC FUSION
EVI1 98 70 ECOTROPIC VIRAL INTEGRATION SITE 1, AML1 in the 3;21 translocations: EVI1, EAP (180474), and MDS1 (600049). TEL--EAP--MDS1--
MDS1 60 39 MDS1/AML1 FUSION GENE, AML1 and EVI1 oncogenic components are required for the cooperation of AML1/MDS1/EVI1 with BCR/ABL
CANCER GENES
MLF1 3627 3416 MYELOID LEUKEMIA FACTOR 1
CTNNB1 3524 1737 BETA-CATENIN
VHL 1302 1066 VON HIPPEL-LINDAU SYNDROME
MLH1 1059 890 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2
XPC 529 461 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
TERC 422 215 TELOMERASE RNA COMPONENT
TP73L 201 100 TUMOR PROTEIN p73-LIKE
THRB 921 98 THYROID HORMONE RECEPTOR, BETA
FANCD2 68 42 FANCONI ANEMIA, COMPLEMENTATION GROUP D2
ATR 137 35 ATAXIA-TELANGIECTASIA AND RAD3-RELATED
PIK3CA 92 27 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, ALPHA
ARMET 65 17 ARGININE-RICH, MUTATED IN EARLY STAGE TUMORS
TDGF1 18 11 TERATOCARCINOMA-DERIVED GROWTH FACTOR 1
RAB7 217 8 RAS-ASSOCIATED PROTEIN RAB7
DIRC2 6 6 DISRUPTED IN RENAL CARCINOMA 2
MOVEMENT DISORDERS
EGI3 2312 69 EPILEPSY, JUVENILE ABSENCE
DRD3 1393 16 DOPAMINE RECEPTOR D3, SCHIZOPHRENIA SUSEPTIBILITY
SPG14 435 44 SPASTIC PARAPLEGIA 14, AUTOSOMAL RECESSIVE
DM2 248 0 MYOTONIC MYOPATHY PROXIMAL
SCA7 117 1 SPINOCEREBELLAR ATAXIA 7
HMSNO 33 0 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE
ETM1 26 0 TREMOR FAMILIAL ESSNTIAL 1
HSN1B 2 0 NEUROPATHY, HEREDITARY SENSORY, TYPE IB
MENTAL DISORDERS
AUTS3 67 3 AUTISM SUSCEPTIBILITY TO, 3
DMT1 6 0 DEMENTIA, FAMILIAL, NONSPECIFIC
MRT2A 1 0 MENTAL RETARDATION, NONSYNDROMIC, AUTOSOMAL RECESSIVE, 2A
SYNDROMES AND MALFORMATIONS
VHL 1302 1066 VON HIPPEL-LINDAU SYNDROME
SLC2A2 444 53 SOLUTE CARRIER FAMILY 2, GLUCOSE TRANSPORTER, LIVER/ISLET, Diabetes mellitus, noninsulin-dependent; Fanconi-Bickel syndrome
CCM3 268 104 CEREBRAL CAVERNOUS MALFORMATIONS-3
AOMS1 244 30 ABDOMINAL OBESITY-METABOLIC SYNDROME QUANTITATIVE TRAIT LOCUS 1
MHS4 181 2 MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 4
DYX5 92 1 DYSLEXIA, SPECIFIC 5
BBS3 61 4 BARDET-BIEDL SYNDROME 3
MFS2 59 5 MARFAN SYNDROME, TYPE II
MBS2 34 1 Moebius syndrome-2
HSCRS2 27 2 HIRSCHSPRUNG DISEASE, SHORT SEGMENT, 2
LRS1 24 0 LARSEN SYNDROME, AUTOSOMAL DOMINANT
ACAA1 17 0 Pseudo-Zellweger syndrome
SLSN3 10 4 Senior-Loken syndrome 3
USH3A 7 0 USHER SYNDROME
USH2B 6 0 USHER SYNDROME, TYPE IIB
AGS1 4 0 Aicardi-Goutieres syndrome 1
CHEMOKINE RECEPTOR CLUSTER ON 3p
CCR5 5333 203 CHEMOKINE, CC MOTIF, RECEPTOR 5, AIDS-SUSCEPTIBILITY/RESISTENCE TO HIV INFECTION
CCR1 585 34  
CCR3 554 24  
CCR2 523 32 SUSCEPTIBILITY/RESISTENCE TO HIV INFECTION
CX3CR1 475 48 CHEMOKINE, CX3C MOTIF, RECEPTOR 1
CCR4 352 28  
CCR8 133 12  
CCR9 46 5  
XCR1 13 2  
CCRL2 1 0  
CCBP2 1 0  
DEVELOPMENTAL GENES AND TRANSCRIPTION FACTORS
TRH 12420 1401 THYROTROPIN-RELEASING HORMONE
CTNNB1 3524 1737 BETA-CATENIN
THRB 921 98 THYROID HORMONE RECEPTOR, BETA
PTHR1 353 49 PARATHYROID HORMONE RECEPTOR 1
MITF 283 66 MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR
SOX2 75 6 SRY-BOX 2
DAZL 62 1 DELETED IN AZOOSPERMIA-LIKE
HESX1 53 0 HOMEOBOX GENE EXPRESSED IN ES CELLS
POU1F1 28 1 POU DOMAIN, CLASS 1, TRANSCRIPTION FACTOR 1
FOXL2 28 0 FORKHEAD TRANSCRIPTION FACTOR FOXL2
HEARING DISORDERS
DFNA18 4 0 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 18
DFNB15 3 0 DEAFNESS AUTOSOMAL RECESSIVE 15
TMIE 2 0 TRANSMEMBRANE INNER EAR-EXPRESSED GENE
DFNA44 1 0 DEAFNESS AUTOSOMAL DOMINANT 44
SKIN DISORDERS
ATOD 8116 224 DERMATITIS, ATOPIC
PSORS5 119 15 PSORIASIS SUSCEPTIBILITY 5
ILVASC 1 0 ICHTHYOSIS, LEUKOCYTE VACOULES, ALOPECIA AND SCLEROSING >CHOLANGITIS
CARDIAC DISEASES
ARVD5 637 5 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA
CMD1E 1 0 CARDIOMYOPATHY, DILATED, 1E
DIABETES
SLC2A2 444 53 SOLUTE CARRIER FAMILY 2, GLUCOSE TRANSPORTER, LIVER/ISLET, DIABETES MELLITUS, NONINSULIN DEPENDENT; FANCONI-BICKEL SYNDROME
GLC1C 6 0 GLAUCOMA 1C, PRIMARY OPEN ANGEL
Supplementary Figure 7. The most referenced chromosome 3 disease phenotypes and causitive genes sorted by function.