Molecular Factors Index

Molecular Factors Index
Molecular Factors Discussed

Gene

Gene Location

Official Gene Symbol and Name

Chapter Term Found

ABCA3

16p13.3

ABCA3; ATP-binding cassette, sub-family A (ABC1), member 3

Congenital Surfactant Deficiency

ABCB11

2q24

ABCB11; ATP-binding cassette, sub-family B (MDR/TAP), member 11

Idiopathic Neonatal Hepatitis; Progressive Familial Intrahepatic Cholestasis

ABCB4

7q21.1

ABCB4; ATP-binding cassette, sub-family B (MDR/TAP), member 4

Biliary Atresia; Progressive Familial Intrahepatic Cholestasis

ACE

17q23.3

ACE; angiotensin I converting enzyme

Reflux Nephropathy

ADAMTS13

9q34

ADAMTS13; ADAM metallopeptidase with thrombospondin type 1 motif, 13

Congenital Thrombotic Thrombocytopenic Purpura

AGL

1p21

AGL; amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase

Glycogen Storage Diseases

AGT

1q42.2

AGT; angiotensinogen

Primary Hyperoxaluria

AGTR2

Xq22-q23

AGTR2; angiotensin II receptor, type 2

Reflux Nephropathy

AIRE

21q22.3

AIRE; autoimmune regulator

Autoimmune Enterocolitis

ANGPTL3

1p31.3

ANGPTL3; angiopoietin-like 3

Abetalipoproteinemia

ANK1

8p11.1

ANK1; ankyrin 1, erythrocytic

Hereditary Spherocytosis

AP3B1

5q14.1

AP3B1; adaptor-related protein complex 3, beta 1 subunit

Chediak-Higashi Syndrome

APC

5q21-q22

APC; adenomatous polyposis coli

Fundic Gland Polyp

APOB

2p24-p23

APOB; apolipoprotein B

Abetalipoproteinemia

APOL1

22q13.1

APOL1; apolipoprotein L, 1

Focal Segmental Glomerulosclerosis

ATP2A2/SERCA2

12q24.11

ATP2A2; ATPase, Ca++ transporting, cardiac muscle, slow twitch 2

Darier Disease

ATP2C1

3q22.1

ATP2C1; ATPase, Ca++ transporting, type 2C, member 1

Darier Disease; Hailey-Hailey Disease;

ATP7B

13q14.3

ATP7B; ATPase, Cu++ transporting, beta polypeptide

Wilson Disease

ATP8B1

18q21.31

ATP8B1; ATPase, aminophospholipid transporter, class I, type 8B, member 1

Progressive Familial Intrahepatic Cholestasis

ATR

3q23

ATR; ataxia telangiectasia and Rad3 related

Fanconi Anemia

ATRX

Xq21.1

ATRX; alpha thalassemia/mental retardation syndrome X-linked

Thalassemia

BCL6

3q27

BCL6; B-cell CLL/lymphoma 6

Progressive Transformation of Germinal Centers

BMPR2

2q33-q34

BMPR2; bone morphogenetic protein receptor, type II

Pulmonary Venoocclusive Disease

BPGM

7q33

BPGM; 2,3-bisphosphoglycerate mutase

Congenital Erythrocytosis

BRAF

7q34

BRAF; v-raf murine sarcoma viral oncogene homolog B

Chronic Lymphocytic Thyroiditis; Reactive Paracortical Hyperplasia;

BRCA2/FANCD1

13q12.3

BRCA2; breast cancer 2, early onset

Fanconi Anemia

BRIP1/FANCJ

17q22.2

BRIP1; BRCA1 interacting protein C-terminal helicase 1

Fanconi Anemia

C3

19p13.3-p13.2

C3; complement component 3

Congenital Thrombotic Thrombocytopenic Purpura; Hemolytic Uremic Syndrome, Infection-Related and Atypical

CARD15

16q21

NOD2; nucleotide-binding oligomerization domain containing 2

Crohn Disease

CCL2

17q11.2-q12

CCL2; chemokine (C-C motif) ligand 2

Reflux Nephropathy

CCM1

7q21.2

KRIT1; KRIT1, ankyrin repeat containing

Cavernous Hemangioma

CCM2

7p13

CCM2; cerebral cavernous malformation 2

Cavernous Hemangioma

CCM3

3q26.1

PDCD10; programmed cell death 10

Cavernous Hemangioma

CCND1-IGH

t(11;14)(q13;q32.33)

CCND1-IGH

Hyaline Vascular Castleman Disease

CD46

1q32

CD46; CD46 molecule, complement regulatory protein

Congenital Thrombotic Thrombocytopenic Purpura

CFB

6p21.3

CFB; complement factor B

Congenital Thrombotic Thrombocytopenic Purpura; Hemolytic Uremic Syndrome, Infection-Related and Atypical;

CFH

1q32

CFH; complement factor H

Congenital Thrombotic Thrombocytopenic Purpura; Hemolytic Uremic Syndrome, Infection-Related and Atypical

CFI

4q25

CFI; complement factor I

Congenital Thrombotic Thrombocytopenic Purpura; Hemolytic Uremic Syndrome, Infection-Related and Atypical

CFTR

7q31.2

CFTR; cystic fibrosis transmembrane conductance regulator

Biliary Atresia; Cystic Fibrosis; Cystic Fibrosis, Hepatic; Cystic Fibrosis, Pancreas

CMOAT/MRP2/ABCC2

10q24

ABCC2; ATP-binding cassette, sub-family C (CFTR/MRP), member 2

Dubin-Johnson Syndrome

COL1A1

17q21.33

COL1A1; collagen, type I, alpha 1

Osteogenesis Imperfecta

COL1A2

7q22.1

COL1A2; collagen, type I, alpha 2

Osteogenesis Imperfecta

COL4A3

2q36-q37

COL4A3; collagen, type IV, alpha 3 (Goodpasture antigen)

Alport Syndrome; Thin Basement Membrane Nephropathy

COL4A4

2q35-q37

COL4A4; collagen, type IV, alpha 4

Alport Syndrome; Thin Basement Membrane Nephropathy

COL4A5

Xq22

COL4A5; collagen, type IV, alpha 5

Alport Syndrome; Thin Basement Membrane Nephropathy

COL4A6

Xq22

COL4A6; collagen, type IV, alpha 6

Alport Syndrome

CPT2

1p32

CPT2; carnitine palmitoyltransferase 2

Fatty Acid Metabolic Disorders

CSF3R

1p35-p34.3

CSF3R; colony stimulating factor 3 receptor (granulocyte)

Severe Congenital Neutropenia and Cyclic Neutropenia

DAX1

Xp21.3

NR0B1; nuclear receptor subfamily 0, group B, member 1

Adrenal Cytomegaly; Adrenal Hypoplasia and Malformations

DCX

Xq22.3-q23

DCX; doublecortin

Periventricular Leukomalacia

DSAP2

15q25.1-q26.1

DSAP2; disseminated superficial actinic porokeratosis 2

Porokeratosis

EDN3

20q13.2-q13.3

EDN3; endothelin 3

Hirschsprung Disease

EDNRB

13q22

EDNRB; endothelin receptor type B

Hirschsprung Disease

EGF

4q25

EGF; epidermal growth factor

Reflux Nephropathy

EGLN1/PHD2

1q42.1

EGLN1; egl-9 family hypoxia-inducible factor 1

Congenital Erythrocytosis

ELANE/ELA2/NE

19p13.3

ELANE; elastase, neutrophil expressed

Severe Congenital Neutropenia and Cyclic Neutropenia; Shwachman-Diamond Syndrome

EPAS1/HIF2A

2p21-p16

EPAS1; endothelial PAS domain protein 1

Congenital Erythrocytosis

EPB42

15q15-q21

EPB42; erythrocyte membrane protein band 4.2

Hereditary Spherocytosis

EPCAM

2p21

EPCAM; epithelial cell adhesion molecule

Tufting Enteropathy

EPO

7q22

EPO; erythropoietin

Congenital Erythrocytosis

EPOR

9p13.3-p13.2

EPOR; erythropoietin receptor

Congenital Erythrocytosis

EVI1

3q26.2

MECOM; MDS1 and EVI1 complex locus

Fanconi Anemia

FAH

15q25.1

FAH; fumarylacetoacetate hydrolase (fumarylacetoacetase)

Tyrosinemia

FANCA

16q24.3

FANCA; Fanconi anemia, complementation group A

Fanconi Anemia

FANCB

Xp22.2

FANCB; Fanconi anemia, complementation group B

Fanconi Anemia

FANCC

9q22.3

FANCC; Fanconi anemia, complementation group C

Fanconi Anemia

FANCD2

3p26

FANCD2; Fanconi anemia, complementation group D2

Fanconi Anemia

FANCE

6p22-p21

FANCE; Fanconi anemia, complementation group E

Fanconi Anemia

FANCF

11p15

FANCF; Fanconi anemia, complementation group F

Fanconi Anemia

FANCG

9p13

FANCG; Fanconi anemia, complementation group G

Fanconi Anemia

FANCI

15q26.1

FANCI; Fanconi anemia, complementation group I

Fanconi Anemia

FANCL

2p16.1

FANCL; Fanconi anemia, complementation group L

Fanconi Anemia

FANCM

14q21.2

FANCM; Fanconi anemia, complementation group M

Fanconi Anemia

FANCN

16p12.2

PALB2; partner and localizer of BRCA2

Fanconi Anemia

FGFR3

4p16.3

FGFR3; fibroblast growth factor receptor 3

Thanatophoric Dysplasia

FIC1

18q21.31

ATP8B1; ATPase, aminophospholipid transporter, class I, type 8B, member 1

Progressive Familial Intrahepatic Cholestasis

FOXC2

16q24.1

FOXC2; forkhead box C2

Primary Intestinal Lymphangiectasia

FOXF1

16q24

FOXF1; forkhead box F1

Congenital Alveolar Capillary Dysplasia

FOXP3

Xp11.23

FOXP3; forkhead box P3

Autoimmune Enterocolitis

G6PC

17q21

G6PC; glucose-6-phosphatase, catalytic subunit

Glycogen Storage Diseases

G6PC3

17q21.31

G6PC3; glucose 6 phosphatase, catalytic, 3

Severe Congenital Neutropenia and Cyclic Neutropenia

G6PT1

11q23.3

SLC37A4; solute carrier family 37 (glucose-6-phosphate transporter), member 4

Glycogen Storage Diseases

GAA

17q25.2-q25.3

GAA; glucosidase, alpha; acid

Glycogen Storage Diseases

GASC1

9p24.1

KDM4C; lysine (K)-specific demethylase 4C

Adrenal Cortical Hyperplasia

GATA1

Xp11.23

GATA1; GATA binding protein 1

Diamond-Blackfan Anemia

GBA

1q21

GBA; glucosidase, beta, acid

Gaucher Disease

GBE1

3p12.3

GBE1; glucan (1,4-alpha-), branching enzyme 1

Glycogen Storage Diseases

GDNF

5p13.1-p12

GDNF; glial cell derived neurotrophic factor

Hirschsprung Disease

GFI1

1p22

GFI1; growth factor independent 1 transcription repressor

Severe Congenital Neutropenia and Cyclic Neutropenia

GLA

Xq22

GLA; galactosidase, alpha

Fabry Disease

GNB3

12p13

GNB3; guanine nucleotide binding protein (G protein), beta polypeptide 3

Reflux Nephropathy

GR

5q31.3

NR3C1; nuclear receptor subfamily 3, group C, member 1

Primary Hyperoxaluria

GYS2

12p12.2

GYS2; glycogen synthase 2

Glycogen Storage Diseases

HAX1

1q21.3

HAX1; HCLS1 associated protein X-1

Severe Congenital Neutropenia and Cyclic Neutropenia

HMGIC

12q15

HMGIC; high-mobility group (nonhistone chromosomal) protein isoform I-C

Hyaline Vascular Castleman Disease

HOGA1

10q24.2

HOGA1; 4-hydroxy-2-oxoglutarate aldolase 1

Primary Hyperoxaluria

IBD2

12p13.2-q24.1

IBD2; inflammatory bowel disease 2

Ulcerative Colitis

IBD3

6p

IBD3; inflammatory bowel disease 3

Ulcerative Colitis

IGF1

12q23.2

IGF1; insulin-like growth factor 1

Reflux Nephropathy

IGF1R

15q26.3

IGFR1; insulin-like growth factor 1 receptor

Reflux Nephropathy

IGH

14q32.33

IGH; immunoglobulin heavy locus

Reactive Follicular Hyperplasia; Reactive Paracortical Hyperplasia

IGH-BCL2

t(14;18)(q32;q21)

IGH-BCL2

Hyaline Vascular Castleman Disease; Reactive Follicular Hyperplasia

IKBKG/NEMO

Xq28

IKBKG; inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma

Incontinentia Pigmenti

JAG1

20p12.1-p11.23

JAG1; jagged 1

Biliary Atresia; Paucity of Intrahepatic Bile Ducts (Nonsyndromic); Paucity of Intrahepatic Bile Ducts (Syndromic)

JAK2

9p24

JAK2; Janus kinase 2

Congenital Erythrocytosis

JBTS11

2q24.3

TTC21B; tetratricopeptide repeat domain 21B

Polycystic Kidney Disease, Autosomal Dominant

JBTS3

6q23.3

AHI1; Abelson helper integration site 1

Polycystic Kidney Disease, Autosomal Dominant

JBTS9

4p15.32

CC2D2A; coiled-coil and C2 domain containing 2A

Polycystic Kidney Disease, Autosomal Dominant

KRIT1

7q21.2

KRIT1; KRIT1, ankyrin repeat containing

Cavernous Hemangioma

KRT5

12q13.13

KRT5; keratin 5

Darier Disease

LAMB2

3p21

LAMB2; laminin, beta 2

Congenital Nephrotic Syndrome; Diffuse Mesangial Sclerosis

LYST/CHS1

1q42.1-q42.2

LYST; lysosomal trafficking regulator

Chediak-Higashi Syndrome; Hemophagocytic Lymphohistiocytosis

MC2R

18p11.2

MC2R; melanocortin 2 receptor

Adrenal Hypoplasia and Malformations

MCKD1

1q21

MCKD1; medullary cystic kidney disease 1

Medullary Cystic Kidney Disease/Nephronophthisis

MCKD2

16p12.3

UMOD; uromodulin

Medullary Cystic Kidney Disease/Nephronophthisis

MCP

1q32

MCP; CD46 molecule, complement regulatory protein

Hemolytic Uremic Syndrome, Infection-Related and Atypical

MEN1

11q13

MEN1; multiple endocrine neoplasia I

Adrenal Cortical Hyperplasia

MKS1

17q22

MKS1; Meckel syndrome, type 1

Encephalocele

MKS2/JBTS2

11q13.1

TMEM216; transmembrane protein 216

Encephalocele; Polycystic Kidney Disease, Autosomal Dominant

MPL

1p34

MPL; myeloproliferative leukemia virus oncogene

Congenital Amegakaryocytic Thrombocytopenia

MRAP

21q22.1

MRAP; melanocortin 2 receptor accessory protein

Adrenal Hypoplasia and Malformations

MTP

4q24

MTTP; microsomal triglyceride transfer protein

Abetalipoproteinemia

MT-TK

Mt

MT-TK; tRNA

Mitochondrial Myopathies

MT-TL1

Mt

MT-TL1; tRNA

Mitochondrial Myopathies

MUNC13-4

17q25.1

UNC13D; unc-13 homolog D

Hemophagocytic Lymphohistiocytosis

MYB

6q22-q23

MYB; v-myb avian myeloblastosis viral oncogene homolog

Accessory Breast Tissue

MYBPC3

11p11.2

MYBPC3; myosin binding protein C, cardiac

Hypertrophic Cardiomyopathy

MYH7

14q12

MYH7; myosin, heavy chain 7, cardiac muscle, beta

Hypertrophic Cardiomyopathy

MYO5B

18q21

MYO5B; myosin VB

Microvillus Inclusion Disease; Tufting Enteropathy

NBS1

8q21

NBN; nibrin

Fanconi Anemia

ND4

Mt

MT-ND4; NADH dehydrogenase, subunit 4

Mitochondrial Myopathies

NF2

22q12.2

NF2; neurofibromin 2

Meningioangiomatosis

NKX2-1

14q13

NKX2-1; NK2 homeobox 1

Congenital Surfactant Deficiency

NOD2/IBD1

16q21

NOD2; nucleotide-binding oligomerization domain containing 2

Crohn Disease

NOTCH2

1p13-p11

NOTCH2; notch 2

Biliary Atresia; Paucity of Intrahepatic Bile Ducts (Syndromic)

NOTCH4

6p21.3

NOTCH4; notch 4

Paucity of Intrahepatic Bile Ducts (Syndromic)

NPHP1

2q13

NPHP1; nephronophthisis 1

Medullary Cystic Kidney Disease/Nephronophthisis; Polycystic Kidney Disease, Autosomal Dominant

NPHP10

1q43

SDCCAG8; serologically defined colon cancer antigen 8

Medullary Cystic Kidney Disease/Nephronophthisis

NPHP11/MKS3

8q22.1

TMEM67; transmembrane protein 67

Encephalocele; Medullary Cystic Kidney Disease/Nephronophthisis; Polycystic Kidney Disease, Autosomal Dominant

NPHP2

9q31

INVS; inversin

Medullary Cystic Kidney Disease/Nephronophthisis

NPHP3

3q22.1

NPHP3; nephronophthisis 3

Medullary Cystic Kidney Disease/Nephronophthisis

NPHP4

1p36

NPHP4; nephronophthisis 4

Medullary Cystic Kidney Disease/Nephronophthisis

NPHP5

3q21.1

IQCB1; IQ motif containing B1

Medullary Cystic Kidney Disease/Nephronophthisis

NPHP6

12q21.32

CEP290; centrosomal protein 290kDa

Medullary Cystic Kidney Disease/Nephronophthisis

NPHP7

16p13.3

GLIS2; GLIS family zinc finger 2

Medullary Cystic Kidney Disease/Nephronophthisis

NPHP8

16q12.2

RPGRIP1L; RPGRIP1-like

Medullary Cystic Kidney Disease/Nephronophthisis

NPHP9

17q11.1

NEK8; NIMA-related kinase 8

Medullary Cystic Kidney Disease/Nephronophthisis

NPHPL1

22q13.2

XPNPEP3; X-prolyl aminopeptidase (aminopeptidase P) 3, putative

Medullary Cystic Kidney Disease/Nephronophthisis

NPHS1

19q13.1

NPHS1; nephrosis 1, congenital, Finnish type

Congenital Nephrotic Syndrome

NPHS2

1q25.2

NPHS2; nephrosis 2, idiopathic, steroid-resistant

Congenital Nephrotic Syndrome

PCSK9

1p32.3

PCSK9; proprotein convertase subtilisin/kexin type 9

Abetalipoproteinemia

PDCD10

3q26.1

PDCD10; programmed cell death 10

Cavernous Hemangioma

PDE11A

2q31-2q35

PDE11A; phosphodiesterase 11A

Adrenal Cortical Hyperplasia

PHKA2

Xp22.2-p22.1

PHKA2; phosphorylase kinase, alpha 2

Glycogen Storage Diseases

PHKB

16q12-q13

PHKB; phosphorylase kinase, beta

Glycogen Storage Diseases

PHKG2

16p11.2

PHKG2; phosphorylase kinase, gamma 2

Glycogen Storage Diseases

PKD1

16p13.3

PKD1; polycystic kidney disease 1

Medullary Cystic Kidney Disease/Nephronophthisis; Polycystic Kidney Disease, Autosomal Dominant

PKD2

4q22.1

PKD2; polycystic kidney disease 2

Polycystic Kidney Disease, Autosomal Dominant

PKHD1

6p12.2

PKHD1; polycystic kidney and hepatic disease 1

Caroli Disease; Congenital Hepatic Fibrosis; Medullary Cystic Kidney Disease/Nephronophthisis; Polycystic Kidney Disease, Autosomal Recessive

PKLR

1q21

PKLR; pyruvate kinase, liver and RBC

Pyruvate Kinase Deficiency

PLCE1

10q23

PLCE1; phospholipase C, epsilon 1

Congenital Nephrotic Syndrome; Diffuse Mesangial Sclerosis

POMC

2p23.3

POMC; proopiomelanocortin

Adrenal Hypoplasia and Malformations

PRF1

10q22

PRF1; perforin 1

Hemophagocytic Lymphohistiocytosis

PRKAR1A

17q23-q24

PRKAR1A; protein kinase, cAMP-dependent, regulatory, type I, alpha

Adrenal Cortical Hyperplasia

PROX1

1q41

PROX1; prospero homeobox 1

Primary Intestinal Lymphangiectasia

PTGS2

1q25.2-q25.3

PTGS2; prostaglandin-endoperoxide synthase 2

Reflux Nephropathy

PYGL

14q21-q22

PYGL; phosphorylase, glycogen, liver

Glycogen Storage Diseases

RAB27A

15q15-q21.1

RAB27A; member RAS oncogene family

Chediak-Higashi Syndrome

RAR

17q21

RAR; retinoic acid receptor, alpha

Tracheoesophageal Fistula/Esophageal Atresia

RET/PTC

2p13-p12

RET; v-rel reticuloendotheliosis viral oncogene homolog

Chronic Lymphocytic Thyroiditis; Hirschsprung Disease

ROBO2

3p12.3

ROBO2; roundabout, axon guidance receptor, homolog 2

Reflux Nephropathy

RPL11

1p36.1-p35

RPL11; ribosomal protein L11

Diamond-Blackfan Anemia

RPL35A

3q29

RPL35A; ribosomal protein L35a

Diamond-Blackfan Anemia

RPL36

19p13.3

RPL36; ribosomal protein L36

Diamond-Blackfan Anemia

RPL5

1p22.1

RPL5; ribosomal protein L5

Diamond-Blackfan Anemia

RPS10

6p21.31

RPS10; ribosomal protein S10

Diamond-Blackfan Anemia

RPS15

19p13.3

RPS15; ribosomal protein S15

Diamond-Blackfan Anemia

RPS17

15q

RPS17; ribosomal protein S17

Diamond-Blackfan Anemia

RPS19

19q13.2

RPS19; ribosomal protein S19

Diamond-Blackfan Anemia

RPS24

10q22

RPS24; ribosomal protein S24

Diamond-Blackfan Anemia

RPS26

12q13

RPS26; ribosomal protein S26

Diamond-Blackfan Anemia

RPS27A

2p16

RPS27A; ribosomal protein S27a

Diamond-Blackfan Anemia

RPS7

2p25

RPS7; ribosomal protein S7

Diamond-Blackfan Anemia

SALL4

20q13.2

SALL4; spalt-like transcription factor 4

Fanconi Anemia

SAR1B

5q31.1

SAR1B; SAR1 homolog B

Abetalipoproteinemia

SART3/DSAP1

12q24.1

SART3; squamous cell carcinoma antigen recognized by T-cells 3

Porokeratosis

SBDS

7q11.21

SBDS; Shwachman-Bodian-Diamond syndrome

Severe Congenital Neutropenia and Cyclic Neutropenia; Shwachman-Diamond Syndrome

SBDSP

7q11.23

SBDSP1; Shwachman-Bodian-Diamond syndrome pseudogene 1

Shwachman-Diamond Syndrome

SF1

11q13

SF1; splicing factor 1

Gonadal Dysgenesis

SFTPB

2p12-p11.2

SFTPB; surfactant protein B

Congenital Surfactant Deficiency

SFTPC

8p21

SFTPC; surfactant protein C

Congenital Surfactant Deficiency

SH2D1A

Xq25

SH2D1A; SH2 domain containing 1A

Hemophagocytic Lymphohistiocytosis

SHH

7q36

SHH; sonic hedgehog

Tracheoesophageal Fistula/Esophageal Atresia

SLC22A5

5q23.3

SLC22A5; solute carrier family 22 (organic cation/carnitine transporter), member 5

Fatty Acid Metabolic Disorders

SLC26A4/PDS

7q31

SLC26A4; solute carrier family 26 (anion exchanger), member 4

Dyshormonogenetic Goiter

SLC29A3

10q22.1

SLC29A3; solute carrier family 29 (equilibrative nucleoside transporter), member 3

Rosai-Dorfman Disease

SLC4A1

17q21.31

SLC4A1; solute carrier family 4 (anion exchanger), member 1

Hereditary Spherocytosis

SMN1

5q13.2

SMN1; survival of motor neuron 1, telomeric

Spinal Muscular Atrophy

SMPD1

11p15.4-p15.1

SMPD1; sphingomyelin phosphodiesterase 1, acid lysosomal

Niemann-Pick Disease

SOX10

22q13.1

SOX10; SRY (sex determining region Y)-box 10

Hirschsprung Disease

SOX18

20q13.33

SOX18; SRY (sex determining region Y)-box 18

Primary Intestinal Lymphangiectasia

SOX9

17q23

SRY (sex determining region Y)-box 9

Gonadal Dysgenesis

SPTA1

1q21

SPTA1; spectrin, alpha, erythrocytic 1 (elliptocytosis 2)

Hereditary Spherocytosis

SPTB

14q23-q24.2

SPTB; spectrin, beta, erythrocytic

Hereditary Spherocytosis

SRY

Yp11.3

SRY; sex determining region Y

Gonadal Dysgenesis

STRA6

15q24.1

STRA6; stimulated by retinoic acid 6

Congenital Alveolar Capillary Dysplasia

TBK1

12q14.1

TBK1; TANK-binding kinase 1

Viral Meningoencephalitis

TBX5

12q24.1

TBX5; T-box 5

Fanconi Anemia

TCOF1

5q32

TCOF1; Treacher Collins-Franceschetti syndrome 1

Diamond-Blackfan Anemia

TCR

Multiple

T-cell receptor

Dermatopathic Lymphadenitis; Hyaline Vascular Castleman Disease; Reactive Paracortical Hyperplasia; Rosai-Dorfman Disease

TGFB1

19q13.1

TGFB1; transforming growth factor, beta 1

Reflux Nephropathy

THBD

20p11.2

THBD; thrombomodulin

Hemolytic Uremic Syndrome, Infection-Related and Atypical

THPO

3q27

THPO; thrombopoietin

Congenital Amegakaryocytic Thrombocytopenia

TLR3

4q35

TLR3; toll-like receptor 3

Viral Meningoencephalitis

TNFA

6p21.3

TNF; tumor necrosis factor

Reflux Nephropathy

TNNT2

1q32

TNNT2; troponin T type 2

Hypertrophic Cardiomyopathy

TSLP

5q22.1

TSLP; thymic stromal lymphopoietin

Eosinophilic Esophagitis

TTF1

9q34.13

TTF1; transcription termination factor, RNA polymerase I

Congenital Surfactant Deficiency

TTN

1q23-q24

TNN; tenascin N

Dilated Cardiomyopathy

UGT1A1

2q37

UGT1A1; UDP glucuronosyltransferase 1 family, polypeptide A1

Gilbert Disease

UNC-93B1

11q13

UNC93B1; unc-93 homolog B1

Viral Meningoencephalitis

UPK1A

19q13.13

UPK1A; uroplakin 1A

Reflux Nephropathy

UPK3A

22q13.31

UPK3A; uroplakin 3A

Reflux Nephropathy

VEGFR3

5q35.3

FLT4; fms-related tyrosine kinase 4

Primary Intestinal Lymphangiectasia

VEGFRC

4q34.3

VEGFC; vascular endothelial growth factor C

Primary Intestinal Lymphangiectasia

VHL

3p25.3

VHL; von Hippel-Lindau tumor suppressor

Congenital Erythrocytosis

WAS

Xp11.4-p11.21

WAS; Wiskott-Aldrich syndrome

Severe Congenital Neutropenia and Cyclic Neutropenia

WT1

11p13

WT1; Wilms tumor 1

Congenital Nephrotic Syndrome; Diffuse Mesangial Sclerosis; Gonadal Dysgenesis; Membranoproliferative Glomerulonephritis

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Jul 8, 2016 | Posted by in PATHOLOGY & LABORATORY MEDICINE | Comments Off on Molecular Factors Index

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