Genes Implicated in Human Diseases
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Disease TypeAsthma    

Breast/Ovarian Cancer

 Gene Name    

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

 Location    

Cs 17

 Accession #    

728984

 SwissProt #     

p38398

 . 
  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;    
q16717
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),   
KURU		 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  
3078009 
3078011
Japanese type acatalasemia catalase 11p13 1839577
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