Tables of diseases, risk factors, xenobiotic sensitivities associated with mutations in genes of the superfamily

Diseases

Disease	Gene_locus	Num of mutations	OMIM
Chanarin-Dorfman syndrome	human-ABHD5	44	275630, 604780

Congenital absence of pancreatic lipase	human-PNLIP	8	246600, 614338

Familial hypercholanemia	human-BAAT, human-EPHX1	3	602938, 607748

Galactosialidosis	human-CTSA	25	256540, 613111

Gilles de la Tourette syndrome (GTS)	human-DPP6	1	126141, 137580

Goiter, familial with hypothyroidism, autosomal recessive	human-TG	94	188450, 274700

Hatipoglu syndrome	human-DPP9	4	608258

Hepatic triglyceride lipase Deficiency	human-LIPC	12	125853, 151670, 246650, 612797, 614025

Hereditary motor and sensory neuropathy, LOM Type	human-NDRG1	8	601455, 605262

Hereditary spastic paraplegia (HSP) ABHD16A	human-ABHD16A	9	142620, 619735

Hyperlipoproteinemia TypeI	human-LPL	157	238600, 246650, 609708

Hypobetalipoproteinemia Familial 2	human-LIPC	1	151670, 605019

Hypotonia-Cystinuria Syndrome	human-PREPL	10	606407, 609557

Hypotrichosis	human-LIPH	32	604379, 607365

Infantile neuronal ceroid lipofuscinosis	human-PPT1	73	256730, 600722

Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis	human-LIPN	1	613924, 613943

Lecithin-cholesterol acyltransferase deficiency (LCATD) and fish-eye disease (FED)	human-LCAT	91	136120, 245900, 606967

Lipoatrophic diabetes	human-EPHX1	2	132810, 32810

Lipodystrophy, familial partial, type 6	human-LIPE	3	151750, 615980

MEGDEL syndrome	human-SERAC1	27	614725, 614739

Mast Syndrome	human-SPG21	7	248900, 608181

Maturity-onset diabetes of the Young, Type8, with exocrine dysfunction, MODY8	human-CEL	8	114840, 609812

Mental retardation, autosomal dominant 33	human-DPP6	3	126141, 616311

Mental retardation, autosomal recessive 42 MRT42	human-PGAP1	9	611655, 615802

NAFLD	human-ABHD5	2	604780

Neuro-ocular DAGLA-related syndrome	human-DAGLA	7	614015

Neuroligin 1 Alzheimer's disease (AD) Autism	human-NLGN1	5	600568

Neuroligin 2 Suceptibility Schizophrenia, anxiety, autism, intellectual disability, hyperphagia, and obesity	human-NLGN2	2	606479

Neuroligin 3 Autism AUTSX1 Asperger syndrome ASPGX1	human-NLGN3	3	300336, 300425

Neuroligin 4 Autism AUTSX2 Asperger syndrome ASPGX2	human-NLGN4X, human-NLGN4Y	9	300425, 300427, 300495

PHARC Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	human-ABHD12	18	612674, 613599

Parkinson disease, autosomal recessive (ARPD) early-onset (EOPD)	human-DAGLB	4	614016

Suceptibility to asthma and atopy, Platelet-activating factor acetylhydrolase (PLA2G7) deficiency (PAFAD) coronary artery disease risk factor	human-PLA2G7	9	147050, 600807, 601690, 614278

Susceptibility to Hypertriglyceridemia	human-LIPI	1	145750, 609252

Ventricular fibrillation, paroxysmal familial 2	human-DPP6	1	126141, 612956

Wolman disease WD, Cholesterol Ester Storage Disease, CESD	human-LIPA	62	278000, 613497

pulmonary atresia with ventricular septal defect (PA/VSD) and tetralogy of Fallot (TOF)	human-NDRG4	1	178370, 614463

Risk factors

Risk factor	Gene_locus	Num of mutations	OMIM
Hypercholesterolemia, familial due to LDLR defect, modifier of	human-EPHX2	1	132811

Late-onset Alzheimer disease	human-BCHE	1	104300

Non-Hodgkin lymphoma (NHL) or B-cell chronic lymphocytic leukemia (CLL)	human-CES1	0	605027

Xenobiotic sensitivity

Xenobiotic sensitivity	Gene_locus	Num of mutations	OMIM
CES-1 deficiency	human-CES1	4	114835

Defect in Suxamethonium hydrolysis	human-BCHE	83	177400, 617936

Defect in hydroxylation of diphenylhydantoin	human-EPHX1	1	132810

Hypersensitivity to acetylcholinesterase inhibitors	human-ACHE	2	100740

Send your questions or comments to :Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.

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