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 |
