Gaetano T. Montelione Laboratory
CABM Protein NMR Laboratory

Lab Documents

Genes Implicated in Human Diseases

  • Disease Type links send you to NCBI decriptions of the disease.  From here you can access links to  NIH-CancerNet, American Cancer Society, and U.Penn's Oncolink.  Some diseases were found by searching the Swiss-Prot or Entrez databases for "human & disease".  These don't have links to NCBI.  Eventually, they will link to a description of the disease elsewhere.  If this is blank, it means the line describes a gene also implicated in the disease for the line above it.
  • Gene Name has information about the gene, its protein product, and possible functions.  Some of these fields say "same as the gene above".  This refers to the fact that some genes cause more than one disease, due to different types or placements of mutations.
  • Location links send you to NCBI chromosomal maps.  Unmapped genes are blank.  (Also blank are the genes found by searching Entrez and SwissProt -- these will be filled in later.)
  • Accesssion # links send you to NCBI-Entrez protein sequences.  From here you can access FASTA, DNA, Medline, Related sequences, and cross refs to similar sequences.  If this field and the Swiss Prot # field are blank, it means the gene hasn't been sequenced yet.  If only the Accession # field is blank, then the gene was found in the Swiss Prot search and hasn't been cross-referenced yet.
  •  SwissProt # links send to to SwissProt protein entries.  From here you can access Medline, submit the sequence for BLAST to EMBnet or NCBI, submit the sequence for modeling, or analyse the sequence with a variety of tools.  Some proteins that were in the NCBI database were not found in the Swiss Prot database when searched on name.  These will be searched on sequence.
Disease TypeAsthma    

Breast/Ovarian Cancer

Gene Name    

BRCA1; helps repair radiation-induced breaks in double-stranded DNA.


Cs 17

Accession #    


SwissProt #     


  BRCA2; helps repair radiation-induced breaks in double-stranded DNA. Cs 13 1161384 p51587
Burkitt Lymphoma MYC; c-myc oncogene; Cs translocation Cs 8 34816 p01106
Colon Cancer - Familial Hereditary Nonpolyposis Colon Cancer (HNPCC) - Lynch Syndrome MLH1; repairs mismatches in DNA replication; heterodimer w/ PMS2 Cs 3 631299 p40692
HNPCC MSH2; repairs mismatches in DNA replication Cs 2 2135744 p43246
HNPCC PMS1; PMS1 protein homolog 1; DNA mismatch repair protein PMS1 1709683
Lung Cancer SCLC1; small cell lung carcinoma Cs 3    
Malignant Melanoma CDKN2 - Cyclin-dependent kinase inhibitor 2; regulates DNA synthesis; CDK4 inhibitor p16; aka INK4A/MTS1 Cs 9 2134886 p42771
Multiple Endocrine Neoplasia - MEN Type 1 MEN1; menin Cs 11 1945387  
MEN Type 2, a/b  C-Ret; proto-oncogene tyrosine-protein kinase receptor; RET  547807
Hirschprung's Disease (HSCR) smae gene as above
Thyroid Papillary Caracinomas (PACT) same gene as above  
Neurofibromatosis Type 1 (NF1) - Von Recklinghausen Syndrome NF1; Neurofibromin; neurofibromatosis-related protein 548350
Watson Syndrome (WS)  same gene as above
Leopard (LS) same gene as above
Neurofibromatosis (NF2) NF2; merlin; schwannomin Cs 22 825719 p35240
p53 Tumor Suppressor phosphoprotein p53; cellular tumor antigen p53 Cs 17 625300 p04637
Pancreatic Cancer DPC4; SMAD4; signal transduction of TGF-beta; developmental regulation ? Cs 18 1163234  
Prostate Cancer HPC1; susceptibility locus, not cloned yet. Cs 1 N/A  
RAS Oncogene HRAS; c-Ha-ras1 p21 protein; transforming protein p21/h-ras-1 (c-h-ras) Cs 11 190891 p01112
Retinoblastoma RB1; tumor suppressor; regulates DNA replication; Retinoblastoma susceptibility protein; retinoblastoma-associated protein (pp110) (p105-rb); nuclear phosphoprotein w/DNA binding activity Cs 13 292421 p06400
  RBL1; Retinoblastoma like protein; PRB1; p107; tumor suppressor ?     p28749 
Von Hippel-Lindau Syndrome VHL; V h-L tumor suppressor; VHL protein; pVHL; G7 protein Cs 3 2282064 p40337
Asthma Candidate Asthma gene; possibly cytokine, growth gactor or growth factor receptor Cs 5 N/A  
Autoimmune Polyglandular Syndrome APS1; APECED; AIRE-1 Cs 21 2696619 p043918
Crohn Disease Candidate Crohn Disease gene; possibly an inflamatory response gene Cs 16 N/A  
DiGeorge Syndrome DGS; DGCR2; potential adhesion receptor; IDD; KIAA0163 Cs 22 809022 p98153
Familial Mediterranea Fever FMF; pyrin Cs 16 2407316  
Hemolytic Anemia ADA1 (see gene below) Level is increased 50-70 times normal
Severe Combined Immunodeficiency Disease (SCID) ADA1; Adenosine Deaminase; Adenosine Amino hydrolase Cs 20 113339 p00813
SCID  RAG1; activatesV-D-J recombination   131827  
SCID RAG2;  V(D)J Recombination Activating Protein 2 2498830
Adrenoleukodystrophy ALD; probably a transport protein; in ATP-binding transport family; in MDR sub-family X Cs 1340149 p33897
Atherosclerosis E; apolipoprotein E; APE Cs 19 178853 p02649
Coronary Heart Disease (CAD) also linked to this gene      
Dysbetalipoproteinemia (FD) also linked to this gene      
Familial Combined Hyperlipidemia (FCHL) APOA4; Apolipoprotein A-IV; APA4   114006  
Familial Hypercholesterolemia (FH) -  LDLR; Low-Density lipoprotein receptor (LDL receptor) 126073
hypercholesterolemia - lipoproteinemia apolipoprotein b-100  2p24-p23 178812
ACAT2 deficiency ACAT2; acyl coenzyme A:  cholesterol acyltransferase 2 6q25.3-q26 3746535
Tangier Disease APOA-1 113992
Milano Varient same gene as above
Polyneuropathic Amyloidosis Type III (FAP III) - Iowa type variant same gene as above
Autosomal Dominant amyloidosis same gene as above
Hereditary non-neuropathic systemic amyloidosis - type VIII (Ostertag-type) same gene as above
Gaucher Disease GBA; GDB; glucosylceramidase precursor; acid beta-glucosidase; beta-glucocerebrosidase; D-glucosyl-N-acylsphingosine glucohydrolase; GLCM Cs 1 2144479 p04062
Gaucher Disease Saposin;  Sphingolipid activator 1360694
Tay-Sachs Disease same gene as above
Metachromatic Leukodystrophy same gene as above
Infantile neuronal  lipofuscinosis same gene as above (see Batten Disease)
Gyrate Atrophy of Choroid and Retina (GACR) OAT; ornithine ketoacid aminotransferase; mitochonrial matrix; homotetramer Cs 10 1168056 p04181
Juvenile Onset Diabetes IDDM1; near gene for antigens Cs 6    
Diabetes Mellitus - Type 2 human islet amyloid polypeptide (IAPP) gene; inhibits insulin-stimulated glucose utilization and glycogen deposition in muscle, doesn't affect adipocyte glucose metablism;     p10997
Diabetes RAD; GTP-binding protein (RAS associated with diabetes); RAD1; overexpressed in muscle of diabetics     p55042
Diabetes Insulin; INS; insulin precursor     p01308
Diabetes IDDM2 Cs 11    
Diabetes GCK; glucokinase; hxkh; hxkp; hexokinase type iIV;  Cs 7   q05810
Diabetes (Maturity Onset Diabetes of the Young (MODY)) - NIDDM TCF1; Hepatocyte Nuclear Factor 1-Alpha (HNF-1A); Liver Specific Transcription Factor LF-B1)`; LFB1; Transcription Factor-1; HNFA; 123436
Insulin resistance - noninsulin-dependent diabetes mellitus (NIDDM) INSR; IR; Insulin Receptor 124529
Donohue Syndrome - Leprechaunism same gene as above
Obesity OB; Leptin; Lipostatin;  secreted signal ? Cs 7 1407583 p41159
Obestity Leptin receptor; OB receptor; OJB-R; LEPR; type I membrane protein; cytokine family     p48357
Paroxysmal noctural hemoglobinuria PIG-A; PI glycan complementation class A; required for normal anchoring by glycosylphosphtidylinositol(GPI); not hereditary - acquired; n-acetylglucosaminyl (GLCNAC) -phosphatidylinositol (PI) biosynthetic protein;  X Cs 1132481 p37287
Phenylketonuria (PKU) PAH; phenylalanine hydroxylase; PH4H; PHE-4-monooxygenase Cs 12 189937 p00439;    
Hyperphyenylalaninemia (HPA) - (a severe form of PKU) GCH1; GTP Cyclohydrolase I; GTP-CH-I   399536   xxx
Progressive Dystonia  - Dopa-Responsive Dystonia (DRD) same gene as above      
Refsum Disease PAHX; phytanic acid hydrolase; peroxisomal phytanoyl-CoA alpha-hydroxylase; PTS2-targeted peroxisomal matrix protein; required for metabolism of phytanic acid Cs 10 2564671  
Duchenne Muscular Dystrophy &    
Becker Muscular Dystrophy
DMD; Dystrophin; rod-shaped cytoskeletal protein; may have role in anchoring the cytoskeleton to the plasma membrane X Cs 181857 p11532
Ellis-van Creveld Syndrome EVC; Chondroectodermal dysplasia Cs 4 N/A  
Marfan Syndrome FBN1; fibrillin 1; multidomain; calcium binding; skeletal, ocular and cardiovascular systems affected Cs 15 544279 p35555
Ectopia Lentis (EL) same gene as above, different mutation gives syndrome w/o cardiovascular involvement      
Beals Syndrome or    
Congenital Contractural Arachnodactyly (CCA)
FBN2; fibrillin 2; similar to fibrillin 2; mutations gives syndrome similar to Marfan syndrome w/o cardiovascular or ocular involvement     p35556
Myotonic Dystrophy DM; myotonin-protein kinase; MDPK; DM-kinase; DMK; DMPk; MT-PK; intracellular communication ? ; normal=5->27 copies of AGC; diseased=50 copies ->several KB Cs 19 1706450 q09013
Alzheimer Disease (AD) PS1; AD3; PSEN1; presenilin 1; intracellular signaling ?; integral membrane protein;  Cs 14 1479974 p49768
Alzheimer Disease  PS2; AD4; PSEN2; presenilin 2; STM-2; E5-1; AD3LP; AD5; intracellular signaling ? ; link chromatin to nuclear membrane ? ; integral membrane protein Cs 1 1709858 p49810
Alzheimer Disease A4; Alzheimer's disease amyloid A4 protein precursor; PN-II; APPI; CVAP, AD1; type I membrane protein; found in plaques     p05067
Down's Syndrome (Aged) above protein (A4) is found in these plaques, too.      
Alzheimer Disease and Down's Lithostathine 1 alpha; pancreatic stone protein; PSP; pancretic thread protein; PTP; islet of langerhans regenerating protein; REG; regenerating protein I alpha; islet cells regeneration factor; ICRF;  131433
Down's DCRA; Down syndrome critical region protein A; in PEP8/H58 family.     o14972
Down's DCRB; Cs 21   p56555
Down's DSR1; DSCR1; DSC1     p53805
Amyotrophic Lateral Sclerosis (ALS) - Lou Gehrig's Disease SOD1; SODC; superoxide dismutase (CU-ZN); important in removing superoxide radicals; cytoplasmic Cs 21 134611 p00441
Charcot-Marie-Tooth Disease PMP-22; MYP2; peripheral myelin protein 22; integral membrane protein; lipid transport proteins in schwann cells ?  Cs 17 266803 p02689
Dejerine-Sottas Syndrome Same as above, different mutations lead to similar but more severe symptoms. see above see above  
Essential Tremor ETM1 (FET1) Cs 3q13 N/A  
  ETM2 Cs 2 p22-p25 N/A  
Huntington Disease HD; IT15; huntingtin; cytoplasmic; microtubule-mediated transport ?; copies of triplet CAG increases with age Cs 4 p16.3 1170192 p42858
Niemann-Pick Disease NPC1; Niemann-Pick Type C Disease; important in cholesterol traffic; mutation leads to build up of cholesterol in neurons. Cs 18 2276463  
Niemann-Pick Disease ASM; Sphingomyelin Phosphodiesterase Precursor (Acid Sphingomyelinase); Sphingomyelin accumulates in lysosomes. 114258
Parkinson Disease SYUA; alpha-synuclein gene; non-A beta component of AD amyloid (NACP); cytoplasmic; neuronal plasticity ?; chaperone ?  Cs 4 586067 p37840
Spinocerebellar Atrophy  - Olivopontocerebellar Atrophy I (OPCA I) SCA1; ATX1; Spinocerebellar ataxia type 1 protein; ataxin-1; expansion of CAG triplet Cs 6 529662 p54253
Williams Syndrome Deletion of a portion of Cs 7, involving several genes.  Including at least:       
Williams ELS; ELN; elastin; tropoelastin Cs 7 119297 p15502
Williams LIMK-1; LIK1; LIM domain kinase 1; intracellular signalling ?; cytoplasmic;  see above 1708820 p53667
Williams LIMK-2; LIK2; cytoplasmic see above   p53671
Fragile X Syndrome FMR-1; fragile X mental retardation 1 protein; expansion of CGG repeat; cytoplamic and nuclear; interacts with FXR1 and FXR2;  X Cs 2135128 q06787
Fragile X FMR-2; OX19;      p51816
Fragile X FXR1; RNA binding protein ; cytoplasmic     p51114
Fragile X FXR2;  RNA binding protein; cytoplasmic     p51116
Ataxis Telangiectasia ATM; DNA repair; similar to PI-3 kinase Cs 11 1063621  
Baldness SRD5A1; S5A1; 3-oxo-5-alpha-steroid 4-dehydrogenase 1; Steroid 5-alpha-reductase; microsomal; differentiation and androgen physiology; regulated by testosterone Cs 5 338476 p18405
Pseudovaginal perineoscrotal hypospadias (PPSH) - Pseudohermaphroditism SRC5A2; highly similar to above gene.     p31213
Cockayne Syndrome CSA; DNA repair of active genes; nuclear ?  Cs 5 1362773 q13216
Cockayne  CSB; ERCC-6; Excision Repair Protein; interacts with CSA; belongs to SNF2/RAD54 Helicase Family;    416959 q03468
(this gene is also involved in : xeroderma pigmentosum - group B (XP-b)) XPB; BTF2-P89; basal transcription factor 2 - 89 KD subunit; TFIIH (subunit of RNA polymerase II); interacts with CSA   1514597 p19447
Glaucoma GLC1A Cs 1 2425157  
Complete Gonadal Dysgenesis - XY females - SWYER Syndrome SRY; Sex determining region Y gene; TDF; testis-determining factor; *** 3D cyrstal structure avail *** Y Cs (not in GeneMap) 548983 q05066
Tuberous Sclerosis TSC1;hamartin; tumor suppressor ? Cs 9 2331281  
Tuberous Sclerosis  TSC2 locus: tuberin; homologous to GAP3; (Kinesin-like protein KIF1A; Axonal Transporter of Synaptic Vesicles is within locus.) Cs 16 2497523 p49815
Waardenburg Syndrome PAX3; paired box protein; HUP2;  Cs 2 1172022 p23760
Waardenburg Syndrome - type II (WS@) ET3; Endothelin-3; vasoconstrictor 119618  
Hirschprung's Disease (HSCR) same gene as above
Craniofacial-deafness-hand syndrome (CDHS) same gene as above      
Rhabdomyosarcoma-2 (RMS2) Cs translocation involving above gene.      
Werner Syndrome WRN; predicted helicase in RecQ family Cs 8 1280208 q14191
Cystic Fibrosis CFTR; Cystic fibrosis transmembrane conductance regulator; CAMP dependent chloride channel Cs 7 1705762 p13569
Distrophic Dysplasia DTD; DTDST; sulfate transporter; integral membrane protein; Cs 5 1706534 p50443
Long-QT Syndrome     
(type 1-dominant: Romano-Ward Syndrome(RW),     
type 2-recessive: Jervell and Lange-Nielsen Syndrome (JLN))
CIK9; KCNQ1; KCNA9; KCNA8; LQT1; voltage-gated potassium channel KvLQT1; other genes may interact with it, but are only tentaviely mapped.  Cs 11; 3; 6 2076880  
Menkes Syndrome - Kinky Hair Disease ATP7A; Copper-transporting ATPase 1; copper pump 1; Menkes Disease associated protein; MNK; MC1 X Cs 1351993 q04656
Occipital Horn Syndrome (OHS) or X-Linked Cutis Laxa May be caused by same gene as above.
Ehlers-Danlos Syndrome May be caused by same gene as above.      
Ehlers-Danlos Syndrome type VII-A2 Procollagen Alpha 2(I) Chain; CA21 1705534
Osteogenesis Imperfecta Types II (Lethal perinatal), III (Severe) and IV (causes deformed dwarfism if survive) same gene as above
Pendred Syndrome Pendrin; related to sulfate transporters; PDS Cs 7 2654005
Polycystic Kidney Disease PKD1; polycystin precursor; integral membrane protein involved in cell-cell and cell-matrix interactions; possible link to microtubule-mediated functions; CPK mouse=model. Cs 16 904223 p98161
Wilsons's Disease ATP7B; WND; PWD; WC1; similar to P-type ATPase copper transport proteins; Long-Evans Cinnamon (LED) rat =model. Cs 13 1947035 p35670
Hereditary Hemolytic Anemia GSH0; GLCLR; GCS light chain; Gamma-ECS; Glutamate-cysteine ligase regulatory subunit; gamma-glutamylcysteine synthetase; first and rate limiting step in de novo glutathione biosynthesis     p48507
Hereditary Hemolytic Anemia GSH1; GLCLC; GCS heavy chain; Gamma-ECS; Glutamate-cysteine ligase catalytic subunit; see above     p48506
Hereditary Hemolytic Anemia TPI; triose phosphate isomerase (TIM) 136060
Carbohydrate-deficient glycoprotein syndrome II (CDGS2) GNT2; GLCNAC-T II; MGAT; alpha-1,6-mannosyl-glycoprotein beta-1,2-n-acetylglucosaminyltransferase     q10469
Bartter's Syndrome - Gitelman's Syndrome (GS) TSCC; Thiazide-sensitive sodium-chloride cotransporter (Na-Cl symporter); SLC12A3;     p55017
Optic nerve colobomas, vesicoureteric reflux, renal anomalies PAX2; paired box protein PAX-2; transcription factor ?     q02962
Aniridia type II (AN) PAX6; AN2; Oculorhombin; paired box protein PAX-6;     p26367
Peter's anomaly see above gene    
Wagr syndrome see above gene; also associated with submicroscopic deletions of Cs 11q13.    
Wilms tumor see above gene; also caused by PAX8; paired box protein PAX-8; isoforms 8a/8b and isoforms 8c/8d     q06710 (a/b)    
q09155 (c/d)
Batten Disease (BD) - Juvenial-onset Neuronal ceroid lipofuscinosis type 3 (JNCL) CLN3;      q13286
Machado-Joseph Disease MJD1; Poly-gln region (normal=14-40 repeats) is expanded (68-82 repeats).     p54252
IG MU Heavy Chain Disease MUCB; BOT     p04220
Chronic Granulomatous Disease (CGD) NCF1; neutrophil cytosol factor 2; neutrophil NADPH oxidase factor 1; P47-PHOX; NCF-47K;      p14598
Norrie Disease (ND) NDP     q00604
X-Linked Familial exudative vitreoretinopathy (XLFEVR) same gene as above    
Bloom's Syndrome (BS) BLM; helicase ? nuclear;      p54132
Lambert-Eaton Myasthenic Syndrome CCB2; Dihydropyridine sensitive L-type calcium channel beta-2 subunit; MYSB; CACNB2; CACNLB2     q08289
Hermansky-Pudlak Syndrome HPS; component of multiple cytoplasmic organelles     q92902
Kallmann Syndrome Kal1; KAL; ADMLX; KALIG1; Adhesion molecule-like X-linked; secreted adhesion-like w/ anti-protease activity ?   125183 ? p23352
Lupus - Sjogren Syndrome LA; Sjogren Sydrome type B antigen (SS-b) LA ribonucleoprotein; LA autoantigen     p05455
Lupus - Sjogren Syndrome SSA1; Ro52; 52 KD RO protein; Sjogren syndrome type A Antigen (SS-a)     p19474
Lupus - Sjogren Syndrome SSA2; Ro60; 60 KD RO protein; RORNP     p10155
Lupus - Systemic Lupus Erythematosus Small Nuclear Ribonucleoprotein SM D1; SNRNP Core Protein D1; SMD1; SMD Autoantigen 134039
Lowe's Oculocerebrorenal Syndrome OCRL; involved in inositol phosphate metabolism     q01968
Treacher Collins Syndrome (TCS) TCOF1; TCOF; Treacle Protein     q13428
Wiskott-Aldrich Syndrome (x-linked) WASP; WAS; IMD2; regulates lymphocyte and platelet function ?     p42768
Wiskott-Aldrich Syndrome (X-linked, so this is not primary genetic defect) Sialophorin CS 16 338231
Von Willebrand Disease (VWD) VWF   401413  
Pseudo-Von-Willebrand Disease - (VWD) GP1BA 121531  
Bernard-Soulier Syndrome (BSS) same gene as above
Bernard-Soulier Syndrome Platelet Glycoprotein IX (GPIX); CD42A 2822110
Familial Amyloidotic Polyneuropathy (FAP) TTHY; TBPA; TTR; ATTR; Transthyretin; thyroid hormone (thyroxine ?) binding protein; functions to transport from blood to brain ?   136464  
     Senile Systemic Amyloidosis (SSA) same gene as above      
Autosomal Dominant Retinitis Pigmentosa (ADRP) RDS; w/ missense or in-frame deletions in large intradiscal loop between 3rd and 4th tm domains.      
Progressive Macular Degeneration same gene as above, w/ missense or in-frame deletions in large intradiscal loop between 3rd and 4th tm domains.      
Pattern Type Dystrophies: Pattern Dystrophy (PD),    
Macular Dystrophy (MD),    
Adult Vitelliform MD (AVMD),    
Butterfly Dystrophy (BD),    
Cone Rod Dystrophy (CRD),    
Punctata Albescens,    
Central Areolar Choroidal Dystrophy (CACD),    
Foveomacular Dystrophy (FD),    
Bulls-Eye Maculopathy (BEM)
same gene as above, but with scattered nonsense mutations      
Retinitis Pigmentosa Digenic (RPD) same gene as above, but with  scattered nonsense mutations      
Thrombophilia - Recurrent Venous Thrombosis - Purpurs Fulminans PROC; Autoprothrombin IIa; Vitamin-K  dependent protein C; Anticoagulant protein C   131067  
Dysprothrombinemia THRB; Prothrombin; coagulation factor II 135807
Methylmalonic aciduria (MMA) MUT; Methylmalonyl-CoA Mutase Precursor MCM   547946  
Primary Lactic Acidosis PDHEI-A Type I; Pyruvate Dehydrogenase E1 Component, Alpha subunit, Somatic Form; ODPA   129063  
Leigh's Encephalomyelopathy - Leigh's Syndrome same gene as above      
Pompe's Disease - Glycogen Storage Disease (GSD - II) GAA; Lysosomal Alpha-Glucosidease (Acid Maltase)   126590  
VonGierke Disease - Glycogen Storage Disease (GSD - IA) GSD; Glucose-6-phosphatase (G6Pase) 544361
Tarui's Disease - Glydogen Storage Disease (GSD-VII) 6-phosphofructokinase, muscle type (phosphofructokinase 1); phosphohexokinase;  125126
Leukocytic Adhesion Deficiency (LAD) ITGB2; Cell Surface Adhsion Glycoproteins LFA-1/CR3/P150,95 Beta-subunit; Integrin beta-2; CD18 Antigen; Complement receptor;   124966  
Hypoglycemia - Fructose Bisphosphate deficiency (FBPD) FBP; D-Fructose 1,6-Bisphosphase   1352403  
Metabolic Acidosis - lactacidemia same gene as above
Hypoglycemia HADHB; mitochondrial trifunctional enzyme beta subunit (TP-beta); 3-ketoacyl-coA thiolase; acetyl-coA acyltranferase; beta-ketothiolase 11q22.3-q23.1 1706566  
3-hydroxydicarboxylic aciduria same gene as above
mild liver dysfunction same gene as above
hyperammonemia same gene as above
Erythropoietic Protoprophyria (EPP) HEMZ; Ferrochelatase; protoheme ferro-lyase; heme synthetase   123052  
Jaundice and Cyanosis HBG; Hemoglobin Gamma-A and Gamma-G chains   122761  
beta o-thalassemia beta-globin 1066762
Hemophilia B FA9; Coagulation Factor IX; Christmas Factor   119772  
Hemophilia  F13B; Coagulation Factor XIII B chain; protein-glutamine gamma-glutamyltransferase B chain; transglutaminase B chain 119721
Hereditary Non-Syndromic Sensorineural Deafness (DFNA3 & DFNB1) GJB2; CXB2; Gap Junction Beta-2; Connexin 26; CX26   585020  
Adrenal Hyperplasia type V (AH-V) CYP17; Cytochrome P450 XVIIA1 (P450-C17); Steroid 17 alpha hydroxylase/17,20 lyase   117283  
X-linked Adrenal Hypoplasia Congenita (AHC) DAX-1; Orphan Nuclear Receptor 1706303
Hypogonadotrophic Hypogonadism (HH or HHG) same gene as above
Chronic Obstructive Pulmonary Disease ATT; Alpha-1-Antitrypsin; protease inhibitor; antiproteinase; protects against proteolytic destruction by Human Leukocyte Elastase (HLE) of lower respiratory tract   1703025  
Chronic and Acute Respiratory Disease ALK1; MPI; Antileukoproteinase 1; ALP; HUSI-1; Seminal proteinase inhibitor; secretory leukocyte protease inhibitor; BLPI; Mucos proteinase inhibitor 113636
Chronic Emphysema same gene as above      
Infantile Liver Cirrhosis same gene as above      
Bleeding Diathesis same gene as above      
Marble Brain Disease CA2; Carbonic Anhydrase II; Carbonate Dehydratase II; CAH2; also causes osteopetrosis, renal tubular acidosis, mental retardation   115456  
Maroteaux-Lamy Syndrome - Mucopolysaccharidosis Type VI (MPS-VI) G4S; ARSB; Arylsulfatase B (ASB) ; N-acetylgalactosamine-4-sulfatase;   114223  
Multiple Sulfatase Deficiency (MSD) - metachromatic Leukodystrophy a decrease in all sulfatase activity - including gene above      
familial dysalbuminemic hyperthyroxinemia (FDH) - Euthyroid hyperthyroxinemia ALB; ALBU; Serum albumin  113576
Pseudohypoaldosteronism type 1 (PHA1) PHA1; SCNEB; Amiloride-sensitive sodium channel beta-subunit; epithelial NA+ channel beta subunit; beta ENAC; non-voltage-gated sodium-channel 1 beta subunit; beta NACH 1710870
Liddle Syndrome same gene as above
Transmissible Spongiform Encephalopathies - Prion Diseases:   
Creutafeldt-Jakob Disease (CJD),   
Gerstmann-Straussler Syndrome (GSS),   
Fatal Familial Insomnia (FFI),   
Major Prion Protein Precursor (PRP) ; PRP27-30; PRP33-35C; ASCR   130912
Myoglobinuria - exercise intolerance - myopathy PGAMM; Phosphoglycerate Mutase, muscle form (PGAM_M); BPG-dependent PGAMM; PMGM 130353
Exertional Myoglobinuria LDH-A; L-Lactate dehydrogenase M Chain (LDH-A); LDHM 126047
Lesch-Nyhan Syndrome Hypoxanthine-guanine phosphoribosyltransferase (HGPRT); HPRT; HGPRTase; complete lack
Gout same gene as above, partial lack 123408
Digestive tract cancers AP3A Hydrolase; AP3AASE; Fragile histidine triad protein; Bis(5'-adenosyl)-triphosphatase; diadenosine-triphosphate hydrolase; dinucleosidetriphosphatase 1706794
Emery-Dreifuss Muscular Dystrophy (EDMD)   
Emerin; EMD 1706639
Alport Syndrome (similar to canine x-linked hereditary nephritis (HN)) Collagen Alpha 5 (IV) Chain;  Type IV Collagen;  2493785 
Limb-Girdle Muscular Dystrophy type 2A (LGMDsA) CAN3; Calpain p94; large catalytic subunit - calcium-activated neutral proteinase; CANP; p94 protein; muscle-specific calcium-activated neutral protease 3    1345664. 
Epidermolytic Hyperkeratosis (EHK) - Bullous Congenital Ichthyosiform Erythroderma (BIE) KRT10; KRT1; K1CJ; Keratin, Type I Cytoskeletal 10; Cytokeratin 10, K10, CK10 547749
Epidermolysis Bullosa (EB) - simplex (EBS); Junctional (EBJ); Dystrophic (EBD); Koebner (EBS-K);  Weber-Cockayne (WBS-WC); Dowling-Meara (EBS-DM) K2C5; Keratin, Type II Cytoskeletal 5; Cytokeratin 5;  K5; CK5; 58KD Cytokeratin; 125105  
Epidermolysis Bullosa (EB) - see above K1CN; Keratin, Type I Cytoskeletal 14; K14; CK14; 125080
Epidermolysis Bullosa Acquisita (EBA) (caused by autoantibodies to:) COL7A1; Type VII Collagen  1345650
Dystrophic  Epidermolysis Bullosa (DEB) - Dominant (DDEB) or recessive (RDEB)  COL7A1; Type VII Collagen 
Hallopeau-Siemens DEB (HS-RDEB) same gene as above
Mitis DEB (M-RDEB) same gene as above
Cockayne-Touraine DEB (CT-DDEB) same gene as above
Pasini DEB (P-DDEB) same gene as above
Barth DEB (P-DDEB) same gene as above
Pretibial EB (PEB-DDEB) same gene as above
Nocturnal Asthma ADRB2; Beta 2 adrenergic receptor 114765
Mevalonicaciduria MVK; Mevalonate Kinase (MK) 417215
Wernicke-Korsakoff Syndrome (WKS) TKT; Transketolase (TK) 1729976
LiverDiseases DRN1; Deoxyribonuclease I Precursor (DNase I) 118919
Gilbert's Syndrome UDP-Glucuronosyltransferase 1-1; UGT-1A;  UGT1-01;  Bilirubin Specific isozyme 1; HUG-BR1;  136729
Crigler-Najjar (CN) same gene as above
GM1-Gangliosidosis GLB1; GM1; beta-galactosidease; lactase; acid beta-balactosidase; BGAL 114940
Morquio B Syndrome same gene as above
Acute Hepatic Porphyria ALADH; Delta-aminolevulinic acid dehydratase; porphobilinogen synthase; 122833
Piebaldism Mast/stem cell growth factor receptor (SCFR); proto-oncogene tyrosine-protein kinase; KIT; C-KIT; CD117 Antigen 125472
Argininemia ARGI; Arginase 1; liver-type arginase 114145
Norum LCAT; phosphatidylcholine-sterol acyltransferase; lecithin-cholesterol acyltransferase; phopholipid-cholesterol acyltransferase 125993
Fish-eye disease same gene as above
Wolman Disease Lysosomal acid lipase/cholesteryl esterase (LIPA) 460143
Pelizaeus-Merzbacher Disease proteolipid protein 1109632
Giant cell arteritis human leucocyte antigen beta chain DR molecule; HLA-DRB1; DRB1 allele 0701 262377
Giant cell arteritis human leucocyte antigen beta chain DR molecule; HLA-DRB1; DRB1 allele 0101 262376
Vascular Disease methylenetetrahydrofolate reductase 945023
Glanzmann Thrombasthenia (GTA) Platelet Membrane Glycoprotein IIIA; GPIIIA; Integrin Beta-3; CD61 124968
6-mercaptopurine sensitivity TPMT; thiopurine S-methyltransferase 2623564
3-beta-hydroxysteroid dehydrogenase, type II deficiency 3B-HSD; 3-beta hydroxysteroid dehydrogenase/delta-5-delta-4-isomerase. 179468
Aarskog-Scott Syndrome FGD1; faciogenital dysplasia;  rho/rac guanine nucleotide sxchange factor ? Xp11.21 595425
Acute Leukemia ALL1; MLL;  - translocations with 11q23 1490271
Acute Leukemia ARP1a,1b,1c - targets for ALL1 4q24-q25 3078007  
Japanese type acatalasemia catalase 11p13 1839577
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