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.	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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