Genes, Locations and Genetic Disorders on Chromosome 12

Last Updated: Sun Aug 6 22:00:02 EDT 2000
GeneGDB AccessionIDLocationOMIM Link
A2M GDB:11963912p13.3-12p12.3 ALPHA-2-MACROGLOBULIN; A2M
AAA GDB:995449812q13-12q13 GLUCOCORTICOID DEFICIENCY AND ACHALASIA
ACADS GDB:11895912q22-12qter ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS
ACLS GDB:13634612p13.3-12p11.2 ACROCALLOSAL SYNDROME; ACLS
ACVRL1 GDB:23024012q11-12q14 12cen-12qter ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRL1
ADHR GDB:995448812p13.3-12p13.3 VITAMIN D-RESISTANT RICKETS, AUTOSOMAL DOMINANT
ALDH2 GDB:11966812q24.2-12q24.2 ALDEHYDE DEHYDROGENASE-2; ALDH2
AMHR2 GDB:69621012q13-12q13 ANTI-MULLERIAN HORMONE TYPE II RECEPTOR; AMHR2
AOM GDB:11899812q12-12q13.1 STICKLER SYNDROME, TYPE I; STL1
AQP2 GDB:14185312q13-12q13 AQUAPORIN-2; AQP2
DIABETES INSIPIDUS, RENAL TYPE
DIABETES INSIPIDUS, RENAL TYPE, AUTOSOMAL RECESSIVE
ATD GDB:69635312p12.2-12p11.21 ASPHYXIATING THORACIC DYSTROPHY; ATD
ATP2A2 GDB:11971712q23-12q24.1 12q24.1-12q24.1 ATPase, Ca(2+)-TRANSPORTING, SLOW-TWITCH; ATP2A2
DARIER-WHITE DISEASE; DAR
BDC GDB:558435912q24-12q24 BRACHYDACTYLY, TYPE C; BDC
C1R GDB:11972912p13-12p13 COMPLEMENT COMPONENT-C1r, DEFICIENCY OF
CD4 GDB:11976712p12-12p12 12pter-12p12 T-CELL ANTIGEN T4/LEU3; CD4
CDK4 GDB:20402212q13-12q13 CYCLIN-DEPENDENT KINASE 4; CDK4
CNA1 GDB:25211912q21.31-12q21.32 CORNEA PLANA 1; CNA1
CNA2 GDB:25212112q21-12q21 12q21.31-12q21.32 CORNEA PLANA 2; CNA2
COL2A1 GDB:11906312q12-12q13.2 12q13.11-12q13.2 STICKLER SYNDROME, TYPE I; STL1
COLLAGEN, TYPE II, ALPHA-1 CHAIN; COL2A1
ACHONDROGENESIS, TYPE II; ACG2
CYP27B1 GDB:983573012q12-12q13 12q13.3-12q14 PSEUDOVITAMIN D DEFICIENCY RICKETS; PDDR
DRPLA GDB:27033612p13.31-12p13.31 12p-12p DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA
ENUR2 GDB:66642212q13-12q21 ENURESIS, NOCTURNAL, 2; ENUR2
FEOM GDB:34503712p11.2-12q12 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL; FEOM
FPF GDB:984888012p13-12p13 PERIODIC FEVER, AUTOSOMAL DOMINANT
GNB3 GDB:12000512p13-12p13 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA POLYPEPTIDE-3; GNB3
GNS GDB:12000612q14-12q14 MUCOPOLYSACCHARIDOSIS TYPE IIID
HAL GDB:12074612q22-12q23 12q22-12q24.1 HISTIDINEMIA
HBP1 GDB:70188912q13-12q13 BRACHYDACTYLY WITH HYPERTENSION
HMGIC GDB:36265812q15-12q15 HIGH MOBILITY GROUP PROTEIN ISOFORM I-C; HMGIC
HMN2 GDB:995450812q24-12q24 MUSCULAR ATROPHY, ADULT SPINAL
HPD GDB:13597812q14-12qter 12q24-12qter TYROSINEMIA, TYPE III
IGF1 GDB:12008112q22-12q23 INSULINLIKE GROWTH FACTOR 1; IGF1
KCNA1 GDB:12790312p13-12p13 POTASSIUM VOLTAGE-GATED CHANNEL, SHAKER-RELATED SUBFAMILY, MEMBER
KRAS2 GDB:12012012p12.1-12p12.1 V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG; KRAS2
KRT1 GDB:12819812q11-12q13 KERATIN 1; KRT1
KRT2A GDB:40764012q11-12q13 ICHTHYOSIS, BULLOUS TYPE
KERATIN 2A; KRT2A
KRT3 GDB:13627612q12-12q13 KERATIN 3; KRT3
KRT4 GDB:12069712p12.2-12q11 12p11.2-12q11 KERATIN 4; KRT4
KRT5 GDB:12811012q-12q 12q11-12q13 EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE
KERATIN 5; KRT5
KRT6A GDB:12811112q12-12q21 KERATIN 6A; KRT6A
KRTHB6 GDB:70207812q13-12q13 MONILETHRIX
KERATIN, HAIR BASIC (TYPE II) 6
LDHB GDB:12014712p12.2-12p12.1 12p12.1-12p12.1 LACTATE DEHYDROGENASE-B; LDHB
LYZ GDB:12016012pter-12qter LYSOZYME; LYZ
MGCT GDB:995450412q22-12q22 TESTICULAR TUMORS
MODY3 GDB:59369812q22-12qter 12q24.1-12q24.33 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE III; MODY3
MPE GDB:12019112p13-12p13 MALIGNANT PROLIFERATION OF
MVK GDB:13418912pter-12qter MEVALONICACIDURIA
MYL2 GDB:12882912q23-12q24.3 MYOSIN, LIGHT CHAIN, REGULATORY VENTRICULAR; MYL2
NS1 GDB:43938812q22-12qter 12q24-12q24 NOONAN SYNDROME 1; NS1
OAP GDB:12024512q12-12q13.1 OSTEOARTHROSIS, PRECOCIOUS; OAP
ORW2 GDB:57958012cen-12qter 12q11-12q12 12q13.12-12q13.13 OSLER-RENDU-WEBER SYNDROME 2; ORW2
PAH GDB:11947012q22-12q24.2 12q24.1-12q24.1 PHENYLKETONURIA; PKU1
PPKB GDB:69635212q11-12q13 PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB
PRB3 GDB:11951312p13.2-12p13.2 PAROTID SALIVARY GLYCOPROTEIN; G1
PXR1 GDB:43373912p13-12p13 PEROXISOME RECEPTOR 1; PXR1
RSN GDB:13915812q24.3-12q24.3 RESTIN; RSN
SAS GDB:12805412q13-12q14 SARCOMA AMPLIFIED SEQUENCE; SAS
SCA2 GDB:12803412q24-12q24 12q23-12q24.1 12q24.1-12q24.1 SPINOCEREBELLAR ATAXIA 2; SCA2
ATAXIN-2; ATX2
SCNN1A GDB:36659612p13-12p13 SODIUM CHANNEL, NONVOLTAGE-GATED, 1; SCNN1A
SMAL GDB:995450612q23-12q24 SPINAL MUSCULAR ATROPHY, CONGENITAL NONPROGRESSIVE, OF LOWER LIMBS
SPPM GDB:995450212q13.3-12q15 SCAPULOPERONEAL MYOPATHY; SPM
SPSMA GDB:995451012q24.1-12q24.31 SCAPULOPERONEAL AMYOTROPHY, NEUROGENIC, NEW ENGLAND TYPE
TBX3 GDB:68196912q23-12q24.1 ULNAR-MAMMARY SYNDROME; UMS
T-BOX 3; TBX3
TBX5 GDB:617591712q21-12qter 12q23-12q24.1 12q24.1-12q24.1 HOLT-ORAM SYNDROME; HOS
T-BOX 5; TBX5
TCF1 GDB:12529712q24.3-12q24.3 12q24.2-12q24.2 TRANSCRIPTION FACTOR 1, HEPATIC; TCF1
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE III; MODY3
TPI1 GDB:11961712p13-12p13 TRIOSEPHOSPHATE ISOMERASE 1; TPI1
TSC3 GDB:12793012q22-12q24.2 SCLEROSIS-3; TSC3
ULR GDB:59408912q14-12q15 UTERINE
VDR GDB:12048712q12-12q14 VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL
VITAMIN D RECEPTOR; VDR
VWF GDB:11912512p13.3-12p13.2 VON WILLEBRAND DISEASE; VWD