| Symbol |
Title/Gene |
OMIM |
Locus |
Size (Kb) |
Other related diseases |
| ADHD1 |
Attention deficit-hyperactivity disorder, susceptibility to, 1 |
608903 |
16p13 |
|
|
| ADHD2 |
Attention deficit-hyperactivity disorder, susceptibility to, 2 |
608904 |
17p11 |
|
|
| ADHD3 |
Attention deficit-hyperactivity disorder, susceptibility to, 3 |
608905 |
6q12 |
|
|
| ADHD4 |
Attention deficit-hyperactivity disorder, susceptibility to, 4 |
608906 |
5p13 |
|
|
| ADHD5 |
Attention deficit-hyperactivity disorder, susceptibility to, 5 |
612311 |
2q21.1 |
|
|
| ADHD6 |
Attention deficit-hyperactivity disorder, susceptibility to, 6 |
612312 |
13q12.11 |
|
|
| ADORA2A |
Adenosine A2a receptor |
102776 |
22q11.23 |
14.80 kb |
|
| ADRA1A |
Adrenergic, alpha-1A-, receptor |
104221 |
8p21.2 |
117.26 kb |
|
| ADRA2A |
Adrenergic, alpha-2A-, receptor |
104210 |
10q25.2 |
3.65 kb |
• Susceptibility to type 2 diabetes |
| ADRA2C |
Adrenergic, alpha-2C-, receptor |
104250 |
4p16 |
1.00 kb |
• Susceptibility to congestive heart failure |
| ADRB2 |
Adrenoceptor beta 2, surface |
109690 |
5q31-q32 |
2.04 kb |
• Susceptibility to asthma, nocturnal
• Susceptibility to obesity |
| ANK3 |
Ankyrin 3, node of Ranvier (ankyrin G) |
600465 |
10q21.2 |
707.23 kb |
• Mental retardation, autosomal recessive, 37 |
| APOE |
Apolipoprotein E |
107741 |
19q13.32 |
3.61 kb |
• Alzheimer disease
• Familial dysbetalipoproteinemia, hyperlipoproteinemia type III
• Age related macular dystrophy, 2
• Sea-blue histiocyte disease |
| AS3MT |
Arsenic (+3 oxidation state) methyltransferase |
611806 |
10q24.32 |
32.45 kb |
• Susceptibility to arsenic-dependent carcinogenesis |
| ASTN1 |
Astrotactin 1 |
600904 |
1q25.2 |
303.00 kb |
|
| ASTN2 |
Astrotactin 2 |
612856 |
9q33.1 |
990.00 kb |
• Susceptibility to schizophrenia |
| BAIAP2 |
BAI1-associated protein 2 |
605475 |
17q25.3 |
82.29 kb |
|
| BCHE |
Butyrylcholinesterase |
177400 |
3q26.1 |
64.56 kb |
• Apnea, postanesthetic, suxamethonium sensitivity |
| BDNF
|
Brain-derived neurotrophic factor |
113505 |
11p14.1 |
67.16 kb |
• WAGR complex
• Central hypoventilation syndrome (congenital)
• Susceptibility to anorexia nervosa and bulimia nervosa.
• Susceptibility to memory impairment. |
| CADM2 |
Cell adhesion molecule 2 |
609938 |
3p12.1 |
342.00 kb |
|
| CAMTA1 |
Calmodulin binding transcription activator 1 |
611501 |
1p36.31 |
984.38 kb |
• Cerebellar ataxia, nonprogressive, with mental retardation |
| CES1 |
Carboxylesterase 1 (monocyte/macrophage serine esterase 1) |
114835 |
16q12.2 |
30.31 kb |
• Carboxylesterase 1 deficiency
• Susceptibility to alteration of pharmacokinetics and drug response |
| CDH13 |
Cadherin 13, H-cadherin |
601364 |
16q23.3 |
1169.62 kb |
|
| CHRNA4 |
Cholinergic receptor, nicotinic, alpha polypeptide 4 |
118504 |
20q13.33 |
18.09 kb |
• Epilepsy, nocturnal frontal lobe, type 1
• Susceptibility to nicotine addiction |
| CHRNA7 |
Cholinergic receptor, nicotinic, alpha 7 (neuronal) |
118511 |
15q13.3 |
139.70 kb |
• Chromosome 15q13.3 microdeletion |
| CLOCK |
Clock circadian regulator |
601851 |
4q12 |
|
• Susceptibility to obesity
• Susceptibility to metabolic syndrome
• Susceptibility to behavioral disorders |
| COMT |
Catechol-O-methyltransferase |
116790 |
22q11.21 |
28.24 kb |
• Susceptibility to schizophrenia
• Susceptibility to panic disorder |
| CYFIP1 |
Cytoplasmic FMR1 interacting protein 1 |
606322 |
15q11.2 |
110.92 kb |
• Angelman syndrome |
| DAB2 |
Disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) |
601236 |
5p13.1 |
53.56 kb |
|
| DBH |
Dopamine beta-hydroxylase (dopamine beta-monooxygenase) |
609312 |
9q34 |
22.98 kb |
• Dopamine beta-hydroxylase deficiency |
| DDC |
Dopa decarboxylase (aromatic L-amino acid decarboxylase) |
107930 |
7p12.1 |
107.02 kb |
• Aromatic L-amino acid decarboxylase deficiency |
| DISC1 |
Disrupted in schizophrenia 1 |
605210 |
1q42.2 |
414.46 kb |
• Susceptibility to schizophrenia
• Susceptibility to schizoaffective disorder |
| DRD1 |
Dopamine receptor D1 |
126449 |
5q35.2 |
3.49 kb |
|
| DRD2 |
Dopamine receptor d2 |
126450 |
11q23.2 |
65.68 kb |
• Dystonia myoclonic |
| DRD4 |
Dopamine receptor d4 |
126452 |
11p15.5 |
3.40 kb |
• Autonomic nervous system dysfunction
• Novelty seeking personality |
| DRD5 |
Dopamine receptor d5 |
126453 |
4p16.1 |
2.38 kb |
• Primary cervical dystonia
• Blepharospasm, primary benign |
| ELK3 |
ELK3, ETS-domain protein (SRF accessory protein 2) |
600247 |
12q23 |
72.00 kb |
|
| FADS2 |
Fatty acid desaturase 2 |
606149 |
11q12.2 |
39.00 kb |
|
| FBXO33 |
F-box only protein 33 |
609103 |
14q21.1 |
34.00 kb |
• Susceptibility to osteoporosis |
| FMR1 |
Fragile X mental retardation 1 |
309550 |
Xq27.3 |
39.18 kb |
• Fragile X syndrome
• Premature ovarian failure, fragile X-associated
• Fragile-X tremor ataxia syndrome |
| FTO |
Fat mass and obesity associated |
610966 |
16q12.2 |
410.50 kb |
• Growth retardation, psychomotor delay, early death
• Severe obesity |
| GDNF |
Glial cell derived neurotrophic factor |
600837 |
5p13.2 |
24.03 kb |
• Central hypoventilation syndrome
• Susceptibility to Hirschsprung disease |
| GNPDA2 |
Glucosamine-6-phosphate deaminase 2 |
613222 |
4p12 |
24.45 kb |
• Susceptibility to obesity |
| GPRC5B |
G protein-coupled receptor, family C, group 5, member B |
605948 |
16p12.3 |
27.08 kb |
|
| GPR139 |
G protein-coupled receptor 139 |
|
16p13.11 |
41.00 kb |
|
| GRM5 |
Glutamate receptor, metabotropic 5 |
604102 |
11q14.3 |
559.07 kb |
|
| GRM7 |
Glutamate receptor, metabotropic 7 |
604101 |
3p26.1-p25.1 |
880.29 kb |
• Susceptibility to age-related hearing impairment |
| GUCY2C |
Guanylate cyclase 2C (heat stable enterotoxin receptor) |
601330 |
12p12.3 |
83.95 kb |
• Diarrhea
• Meconium ileus |
| HTR1A |
5-hydroxytryptamine (serotonin) receptor 1A |
109760 |
5q11.2-q13 |
1.00 kb |
• Periodic fever, menstrual cycle dependent |
| HTR1B |
5-hydroxytryptamine (serotonin) receptor 1B |
182131 |
6q13 |
1.00 kb |
|
| HTR1E |
5-hydroxytryptamine (serotonin) receptor 1E |
182132 |
6q14-q15 |
78.00 kb |
|
| HTR2A |
5-hydroxytryptamine (serotonin) receptor 2A |
182135 |
13q14.2 |
63.48 kb |
• Susceptibility to alcohol dependence
• Susceptibility to anorexia nervosa
• Susceptibility to obsessive-compulsive disorder
• Susceptibility to schizophrenia
• Susceptibility to seasonal affective disorder |
| HTR2C |
5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled |
312861 |
Xq24 |
358.68 kb |
• Susceptibility to obesity
• Susceptibility to behavioral disorders |
| ITIH3 |
Inter-alpha (globulin) inhibitor H3 |
146650 |
3p21.1 |
14.24 kb |
|
| KALRN |
Kalirin, RhoGEF kinase |
604605 |
3q21.2 |
626.48 kb |
• Susceptibility to coronary heart disease |
| KCNJ5 |
Potassium inwardly-rectifying channel, subfamily J, member 5 |
600734 |
11q24.3 |
26.65 kb |
• Hyperaldosteronism, familial, type III
• Long QT syndrome 13 |
| KLF13 |
Kruppel-like factor 13 |
605328 |
15q13.3 |
51.02 kb |
|
| LPHN3 |
Latrophilin 3 |
|
4q13.1 |
575.00 kb |
|
| MAOA |
Monoamine oxidase A |
309850 |
Xp11.3 |
90.00 kb |
• Brunner síndrome
• MAOA/B deletion syndrome
• Susceptibility to antisocial behavior |
| MAP2K5 |
Mitogen-activated protein kinase kinase 5 |
602520 |
15q23 |
264.43 kb |
|
| MTHFR |
Methylenetetrahydrofolate reductase (NAD(P)H) |
607093 |
1p36.22 |
20.33 kb |
• Homocystinuria due to MTHFR deficiency
• Susceptibility to vascular disease
• Susceptibility to thromboembolism
• Susceptibility to schizophrenia
• Susceptibility to neural tube defects |
| MTMR10 |
Myotubularin related protein 10 |
|
15q13.3 |
46.00 kb |
|
| NCAM1 |
Neural cell adhesion molecule 1 |
116930 |
11q23.2 |
317.19 kb |
• Susceptibility to neural tube defects
• Susceptibility to alcohol dependence
• Susceptibility to left ventricular wall thickness and relative wall thickness in hypertensive families |
| NGF |
Nerve growth factor (beta polypeptide) |
162030 |
1p13.1 |
52.32 kb |
• Neuropathy, hereditary sensory and autonomic, type V |
| NGF |
Nerve growth factor (beta polypeptide) |
162030 |
1p13.1 |
52.32 kb |
• Neuropathy, hereditary sensory and autonomic, type V |
| NIPA1 |
Non-imprinted in Prader-Willi/Angelman syndrome 1 |
608145 |
15q11.2 |
43.16 kb |
• Spastic paraplegia 6 |
| NIPA2 |
Non-imprinted in Prader-Willi/Angelman syndrome 2 |
608146 |
15q11.2 |
29.74 kb |
Susceptibility to childhood absence epilepsy |
| NPSR1 |
Neuropeptide S receptor 1 |
608595 |
7p14.3 |
220.00 kb |
• Susceptibility to Asthma |
| NTF3 |
Neurotrophin 3 |
162660 |
12p13.31 |
63.19 kb |
• Severe movement defects of the limbs |
| NTF4 |
Neurotrophin 4 |
162662 |
19q13.33 |
3.84 kb |
• Glaucoma, primary open angle, O |
| NTRK1 |
Neurotrophic tyrosine kinase, receptor, type 1 |
191315 |
1q23.1 |
66.10 kb |
• Hereditary sensory and autonomic neuropathy, type IV |
| NTRK3 |
Neurotrophic tyrosine kinase, receptor, type 3 |
191316 |
15q25.3 |
379.67 kb |
• Susceptibility to tumour development |
| NUDT3 |
Nudix (nucleoside diphosphate linked moiety X)-type motif 3 |
609228 |
6p21.2 |
104.00 kb |
|
| PARK2 |
Parkinson protein 2, E3 ubiquitin protein ligase (parkin) |
602544 |
6q26 |
1380.25 kb |
• Parkinson disease 2, juvenile |
| PON1 |
Paraoxonase 1 |
168820 |
7q21.3 |
26.21 kb |
• Susceptibility to coronary artery disease
• Susceptibility to coronary artery spasm 2
• Microvascular complications of diabetes 5
• Sensitivity to organophosphate poisoning |
| PTGER4 |
Prostaglandin E receptor 4 (subtype EP4) |
601586 |
5p13.1 |
1380.25 kb |
• Susceptibility to Crohn disease |
| PTPRD |
Protein tyrosine phosphatase, receptor type, D |
601598 |
9p23 |
2298.26 kb |
• Restless legs syndrome 3 |
| SLC6A2 |
Solute carrier family 6 (neurotransmitter transporter), member 2 |
163970 |
16q12.2 |
50.56 kb |
• Orthostatic intolerance |
| SLC6A3 |
Solute carrier family 6 (neurotransmitter transporter), member 3 |
126455 |
5p15.33 |
52.64 kb |
• Parkinsonism-dystonia, infantile
• Idiopathic epilepsy
• Dependence on alcohol and cocaine |
| SLC6A4 |
Solute carrier family 6 (neurotransmitter transporter), member 4 |
182138 |
17q11.2 |
39.58 kb |
• Anxiety-related personality traits
• Obsessive-compulsive disorder
• Susceptibility to sudden infant death |
| SLC9A9 |
Solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 |
608396 |
3q24 |
583.28 kb |
• Autism susceptibility 16 |
| SNAP25 |
Synaptosomal-associated protein, 25kDa |
600322 |
20p12-p11.2 |
88.60 kb |
|
| STX1A |
Syntaxin 1A (brain) |
186590 |
7q11.23 |
20.48 kb |
|
| SYP |
Synaptophysin |
313475 |
Xp11.23 |
12.40 kb |
• Mental retardation, X-linked 96 |
| SYT1 |
Synaptotagmin I |
185605 |
12q21.2 |
588.02 kb |
|
| TACR1 |
tachykinin receptor 1 |
162323 |
2p13.1 |
153.06 kb |
|
| TPH2 |
Tryptophan hydroxylase 2 |
607478 |
12q21.1 |
93.00 kb |
• Susceptibility to bipolar disorder
• Susceptibility to major depression |
| TRIM32 |
Tripartite motif-containing 32 |
602290 |
9q33.1 |
26.65 kb |
• Bardet-Biedl syndrome 11
• Muscular dystrophy, limb-girdle, type 2H |
| TSHR |
Thyroid stimulating hormone receptor |
603372 |
14q31.1 |
190.80 kb |
• Hyperthyroidism, familial gestational
• Hyperthyroidism, nonautoimmune
• Hypothyroidism, congenital, nongoitrous, 1
• Thyroid adenoma, hyperfunctioning, somatic
• Thyroid carcinoma with thyrotoxicosis |
| TUBGCP5 |
Tubulin, gamma complex associated protein 5 |
608147 |
15q11.2 |
40.49 kb |
|
| UPF3B |
UPF3 regulator of nonsense transcripts homolog B (yeast) |
300298 |
Xq24-q26 |
18.00 kb |
• FG syndrome 6
• Lujan-Fryns syndrome 1
• Mental retardation, 27 |
| VAMP2 |
Vesicle-associated membrane protein 2 (synaptobrevin 2) |
185881 |
17p13.1 |
3.83 kb |
|
| XKR4 |
XK, Kell blood group complex subunit-related family, member 4 |
|
8q12.1 |
|
|
