ESTHER database
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Disease
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1
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Anti-Dipeptidyl-Peptidase-Like Protein 6 (DPPX) Encephalitis Progressive Encephalomyelitis with Rigidity and Myoclonus
2
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Chanarin-Dorfman syndrome
3
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Combined oxidative phosphorylation deficiency-53 (COXPD53)
4
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Congenital absence of pancreatic lipase
5
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Craniotubular dysplasia, Ikegawa type (CTDI)
6
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Familial hypercholanemia
7
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Galactosialidosis
8
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Gilles de la Tourette syndrome (GTS)
9
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Goiter, familial with hypothyroidism, autosomal recessive
10
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Hatipoglu syndrome
11
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Hepatic triglyceride lipase Deficiency
12
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Hereditary motor and sensory neuropathy, LOM Type
13
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Hereditary spastic paraplegia (HSP) ABHD16A
14
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Hyperalphalipoproteinemia
15
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Hyperlipoproteinemia TypeI
16
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Hypobetalipoproteinemia Familial 2
17
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Hypotonia-Cystinuria Syndrome
18
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Hypotrichosis
19
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Infantile neuronal ceroid lipofuscinosis
20
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Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis
21
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Lecithin-cholesterol acyltransferase deficiency (LCATD) and fish-eye disease (FED)
22
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Lipoatrophic diabetes
23
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Lipodystrophy, familial partial, type 6
24
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Mast Syndrome
25
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Maturity-onset diabetes of the Young, Type8, with exocrine dysfunction, MODY8
26
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MEGDEL syndrome
27
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Mental retardation, autosomal dominant 33
28
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Mental retardation, autosomal recessive 42 MRT42
29
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Myasthenic syndrome, congenital, 22\; CMS22
30
-
NAFLD
31
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Neuro-ocular DAGLA-related syndrome
32
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Neuroligin 1 Alzheimer's disease (AD) Autism
33
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Neuroligin 2 Suceptibility Schizophrenia, anxiety, autism, intellectual disability, hyperphagia, and obesity
34
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Neuroligin 3 Autism AUTSX1 Asperger syndrome ASPGX1
35
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Neuroligin 4 Autism AUTSX2 Asperger syndrome ASPGX2
36
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Parkinson disease, autosomal recessive (ARPD) early-onset (EOPD)
37
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PHARC Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
38
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pulmonary atresia with ventricular septal defect (PA\/VSD) and tetralogy of Fallot (TOF)
39
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Suceptibility to asthma and atopy, Platelet-activating factor acetylhydrolase (PLA2G7) deficiency (PAFAD) coronary artery disease risk factor
40
-
Susceptibility to Hypertriglyceridemia
1
2