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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