Genetic map of human chromosomes

a1-AT (AAT) — 14q32.1

— alpha-1 antitrypsin deficiency

AB0 — 9q34

— ABO Blood Groups

ACTH — 2p23.3

— adrenocorticotropic hormone deficiency

ADA — 20q 13.11

— severe combined immunodeficiency (SCID), adenosine deaminase (ADA) deficiency

ALAD — 9q34

— acute hepatic porphyria

HMBS — 11q 23.3

— acute intermittent porphyria

AKU — 3q21-q23

— alkaptonuria

ALD — Xq28

— adrenoleukodystrophy

PKD1 — 16p 13.3-p 13.12

— Polycystic Kidney Disease, adult type 1

PKD2 — 4q21-q23

— polycystic kidney disease, adult type 2

APOB — 2p24

— abetalipoproteinemia

APOC2 — 19q 13.2

— hyperlipoproteinemia, type Ib

ARG1 — 6q23

— argininemia

ARSB — 5q11-13

— mucopolysaccharidosis, type VI, Maroteaux–Lamy syndrome

ANCR — 15q 11-q13

— Angelman syndrome

ATA — 11q22.3

— ataxia-telangiectasia

AT3 — 1q23-q25

— antithrombin III deficiency

ATRX — Xq13

— alpha-thalassemia/mental retardation syndrome

AZF1 — Yq11

— azoospermia factor, azoospermia ( Sertoli Cell-only syndrome )

BBS2 — 16q21

— Bardet–Biedl syndrome 2

BLM — 15q26.1

— Bloom syndrome

BRCA1 — 17 q21

— familial breast/Ovarian Cancer 1

BRCA2 — 13q12.3

— familial breast/ovarian cancer 2

BWS — 11p 15.5

— Beckwith–Wiedemann syndrome

C3 — 19p 13.2-13.3

— Complement component 3 deficiency

C5 — 9q34.1

— complement component 5 deficiency

C6 — 5p13

— complement component 6 deficiency

C7 — 5p13

— complement component 7 deficiency

C9 — 5p13

— complement component 9 deficiency

CA21H — 6p21.3

— congenital adrenal hyperplasia due to 21-hydroxylase deficiency

CBS — 21q22.3

— homocystinuria

UROS — 10q25.2-q26.3

— congenital erythropoietic porphyria

CFTR — 7q31.2

— cystic fibrosis

CKN2 — 10q 11

— Cockayne syndrome 2, late onset

CMH1 — 14q12

— familial hypertrophic cardiomyopathy, type 1

CMH2 — 1q32

— familial hypertrophic cardiomyopathy, type 2

CMH3 — 15q22.1

— familial hypertrophic cardiomyopathy, type 3

CMT1A — 17p 11.2

— Charcot–Marie–Tooth disease, type 1A

CMT1B — 1q22

— Charcot–Marie–Tooth disease, type 1B

CMT2A — 1p36.2

— Charcot–Marie–Tooth disease, types 2A1 and 2A2

COL1A1 — 17 q21.31-q22

— Collagen type I alpha₁ chain, Osteogenesis Imperfecta

COL1A2 — 7q22.1

— collagen type I alpha₂ chain, osteogenesis imperfecta

COL2A1 — 12q13.11-q13.2

— collagen type II, Stickler syndrome

COL3A1 — 2q31

— collagen type III alpha₁ chain, Ehlers–Danlos syndrome type III and IV

CYP11B1 — 8q21

— congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

DAZ — Yq11

— deleted in azoospermia (Sertoli cell-only syndrome)

DFNB1/A3 — 13q11-q 12

— nonsyndromic sensorineural deafness, autosomal dominant

DM - 19q13.2-q13.3

— myotonic dystrophy

DMD/BMD — Xp21.2

— dystrophin, Duchenne and Becker muscular dystrophy

DRPLA — 12p13.3

— dentatorubral-pallidoluysian atrophy

PLOD — 1p36.3-p36.2

— Ehlers–Danlos syndrome, type VI

EYA1 — 8q13.3

— branchio-oto-renal syndrome

F5 — 1q23

— coagulation factor V, hemorrhagic diathesis

F7 — 13q34

— coagulation factor VII, factor VII deficiency

F8 — Xq28

— coagulation factor VIII, hemophilia A

F9 — Xq27.1-q27.2

— coagulation factor IX, Christmas disease, hemophilia B

F10 — 13q34

— coagulation factor X, factor X deficiency

F11 — 4q3.5

— coagulation factor XI, factor XI deficiency

F12 — 5q33-qter

— coagulation factor XII, factor XII deficiency

FPC — 5q21-q22

— familial adenomatous polyposis of the colon, Gardner syndrome

FBN1 — 15q21.1

— fibrillin-1, Marfan Syndrome

FBN2 — 5q23-q31

— fibrillin-2, congenital contractural arachnodactyly

FGFR1 — 8p 11.2-p 11.1

— fibroblast growth factor receptor 1, Pfeiffer syndrome

FGFR2 — 10q26

— fibroblast growth factor receptor 2, Crouzon, Pfeiffer, and Apert syndromes

FGFR3 — 4p16.3

— fibroblast growth factor receptor 3, Achondroplasia, Thanatophoric Dysplasia, Hypochondroplasia

FH — 19p 13.2

— familial hypercholesterolemia

FRAXA (FRM1) — Xq27.3

— fragile X syndrome

FRDA — 9q13

— Friedreich ataxia

FSHMD1A — 4q35

— facioscapulohumeral muscular dystrophy

GALT — 9p 13

— galactosemia

BCNS — 9q31

— basal cell nevus syndrome, Gorlin syndrome

GLB1 — 3p21.33

— GM1-gangliosidosis

G6PD — Xq28

— glucose-6-phosphate dehydrogenase, glucose-6-phosphate dehydrogenase deficiency

GUSB — 7q21.11

— mucopolysaccharidosis type VII, Sly syndrome

HBB — 11p15.5

— beta-globin Gene, beta-thalassemia

HD — 4p16.3

— Huntington's chorea

HEXA — 15q23-q24

— hexosaminidase A, GM2-gangliosidosis (Tay–Sachs disease)

HEXB — 5q13

— hexosaminidase B, Sandhoff disease

HFE — 6p21.3

— hemochromatosis

HPRT — Xq26-q27.2

— hypoxanthine-guanine phosphoribosyltransferase, Lesch–Nyhan syndrome

HLA — 6p21.3

— Major Histocompatibility Complex

HPE3 — 7q36

— holoprosencephaly 3

IDUA — 4p16.3

— mucopolysaccharidosis type I, Hurler syndrome

IGKC — 2p12

— immunoglobulin kappa light chain, kappa light chain deficiency

DGCR — 22q 11.2

— DiGeorge syndrome

INS — 11p15.5

— Insulin-dependent Diabetes Mellitus, rare form

KRT5 — 12q13

— epidermolysis bullosa simplex, Köbner type

LGMD7 — 5q31

— limb-girdle muscular dystrophy

MCAD — 1p3

— medium-chain acyl-CoA dehydrogenase, medium-chain acyl-CoA dehydrogenase deficiency

MDS — 17р 13.3

— Miller–Dieker lissencephaly syndrome

MEN1 — 11q13

— multiple endocrine neoplasia type 1

MHS — 19q13.1

— malignant hyperthermia 1

MITF — 3p14.1-р12.3

— Waardenburg syndrome, type 2A

MJD — 14q24.3-q31

— Machado–Joseph disease, spinocerebellar ataxia type 3

MPS6 — 5q11—q 13

— Maroteaux–Lamy syndrome, several forms

MSH2 — 2p22-p21

— hereditary nonpolyposis Colorectal Cancer, type 1

NCF2 — 1q25

— chronic granulomatous disease due to NCF2 deficiency

NF1 — 17q11.2

— neurofibromatosis type 1, von Recklinghausen disease

NF2 — 22q12.2

— neurofibromatosis type 2, bilateral acoustic neuroma

NPD — 11p15.4—p 15.1

— Niemann–Pick disease, types A and B

NPC — 18q11-q12

— Niemann–Pick disease, types C and D

NPS1 — 9q34.1

— nail-Patella syndrome

OTC — Xp21.1

— Ornithine transcarbamylase, ornithine transcarbamylase deficiency

Р53 — 17p 13.1

— p53 protein, Li–Fraumeni syndrome

PKU1 — 12q24.1

— phenylketonuria

PROC — 2q13-q14

— protein C, Thrombophilia due to protein C deficiency

PROS1 — 3p 11.1—q11.2

— protein S, coagulopathy

PRNP — 20p12-pter

— prion protein, Creutzfeldt–Jakob disease

PWS — 15q11

— Prader–Willi syndrome

PXMP1 — 1p22-p21

— Zellweger syndrome, type 2

RB1 — 13q14.1-q14.2

— retinoblastoma

RET — 10q 11.2

— medullary thyroid carcinoma, multiple endocrine neoplasia 2A and 2B, familial Hirschsprung disease

RHCE — 1p36.2-p34

— Rhesus factor, Rh-null syndrome (amorphic type)

RP1 — 8q11-q13

— retinitis pigmentosa 1

RP2 — Xp11.3

— retinitis pigmentosa 2

RP3 — Xp21.1

— retinitis pigmentosa 3

rRNA

— ribosomal RNA

SCA1 — 6p23

— spinocerebellar ataxia 1

SCA2 — 12q24

— spinocerebellar ataxia 2

SPTB — 14q22 -q23.2

— spherocytosis, type 1

SMN — 5q12.2-q13.3

— spinal muscular atrophy, types 1-4

SOD1 — 21q22.1

— AMYOTROPHIC LATERAL SCLEROSIS due to superoxide dismutase deficiency, familial form

SRY — Yp11.3

— Testis-determining factor, gonadal dysgenesis, XY type

TBX5 — 12q24.1

— Holt–Oram syndrome

TCOF1 — 5q32-q33.1

— Treacher Collins syndrome (Franceschetti syndrome)

TRPS1 — 8q24.12

— tricho-rhino-phalangeal syndrome, types I and III

TSC1 — 9q34

— tuberous sclerosis 1

TSC2 — 16p13.3

— tuberous sclerosis 2

TYR — 11q14-q21

— oculocutaneous albinism, types 1A and 1B

USH1A — 14q32

— Usher syndrome, type 1A

USH1B — 11q13.5

— Usher syndrome, type 1B

USH1C — 11p 15.1

— Usher syndrome, type 1C

USH2 — 1q41

— Usher syndrome, type 2A

VWS — 1q32-q41

— Van der Woude syndrome

VHL — 3p26-p25

— von Hippel–Lindau syndrome

VWF — 12p13.3

— von Willebrand disease

WND — 13q14.3-q21.1

— Wilson disease

WRN — 8p12—p 11.2

— Werner syndrome

WS1 — 2q35

— Waardenburg syndrome, type 1

WT1 — 11p13

— Wilms Tumor 1

ZWS1 — 7q21-q22

— Zellweger syndrome, type 1