job_id	locusID	org_ref_taxname	org_ref_commonname	OMIM	synonyms	genesummary	genename	phenotypes	pathways	GeneLowPoint	GeneHighPoint	ori	chr	genesymbol	build	cyto	approx
pathway-nonregistered-2015-12-11_12:11:11	3067	Homo sapiens	human	142704		This gene encodes a member of the group II decarboxylase family and forms a homodimer that converts L-histidine to histamine in a pyridoxal phosphate dependent manner. Histamine regulates several physiologic processes, including neurotransmission, gastric acid secretion,inflamation, and smooth muscle tone.[provided by RefSeq, Aug 2010]	histidine decarboxylase		KEGG pathway: Histidine metabolism--- KEGG pathway: Metabolic pathways--- Reactome Event:Metabolism	50534144	50558162	-	15	HDC	Homo sapiens Annotation Release 105	15q21.2	0
pathway-nonregistered-2015-12-11_12:11:11	6532	Homo sapiens	human	182138	HTT 5HTT OCD1 SERT 5-HTT SERT1 hSERT 5-HTTLPR	This gene encodes an integral membrane protein that transports the neurotransmitter serotonin from synaptic spaces into presynaptic neurons. The encoded protein terminates the action of serotonin and recycles it in a sodium-dependent manner. This protein is a target of psychomotor stimulants, such as amphetamines and cocaine, and is a member of the sodium:neurotransmitter symporter family. A repeat length polymorphism in the promoter of this gene has been shown to affect the rate of serotonin uptake and may play a role in sudden infant death syndrome, aggressive behavior in Alzheimer disease patients, and depression-susceptibility in people experiencing emotional trauma. [provided by RefSeq, Jul 2008]	solute carrier family 6 (neurotransmitter transporter), member 4	No evidence available (Last evaluated (2013-08-15)--- No evidence available (Last evaluated (2013-08-15)	KEGG pathway: Serotonergic synapse	28521337	28562986	-	17	SLC6A4	Homo sapiens Annotation Release 105	17q11.2	0
pathway-nonregistered-2015-12-11_12:11:11	1621	Homo sapiens	human	609312	DBM	The protein encoded by this gene is an oxidoreductase belonging to the copper type II, ascorbate-dependent monooxygenase family. It is present in the synaptic vesicles of postganglionic sympathetic neurons and converts dopamine to norepinephrine. It exists in both soluble and membrane-bound forms, depending on the absence or presence, respectively, of a signal peptide. [provided by RefSeq, Jul 2008]	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine beta-hydroxylase (DBH) deficiency is characterized by lack of sympathetic noradrenergic function but normal parasympathetic and sympathetic cholinergic function. Affected individuals exhibit profound deficits in autonomic regulation of cardiovascular function that predispose to orthostatic hypotension. Although DBH deficiency appears to be present from birth, the diagnosis is not generally recognized until late childhood. The combination of ptosis of the eyelids in infants and children, together with hypotension, is suggestive of the disease. In the perinatal period, DBH deficiency has been complicated by vomiting, dehydration, hypotension, hypothermia, and hypoglycemia requiring repeated hospitalization; children have reduced exercise capacity. By early adulthood, individuals have profound orthostatic hypotension, greatly reduced exercise tolerance, ptosis of the eyelids, and nasal stuffiness. Presyncopal symptoms include dizziness, blurred vision, dyspnea, nuchal discomfort, and chest pain. Life expectancy is unknown, but some affected individuals have lived beyond 60 years.--- The diagnosis of DBH deficiency is based on clinical findings, including poor cardiovascular regulation, other autonomic dysfunction, and intact sweating. Physiologic findings of autonomic function indicate that complete DBH deficiency encompasses sympathetic noradrenergic failure and adrenomedullary failure but intact vagal and sympathetic cholinergic function. Biochemical features unique to DBH deficiency include minimal or absent plasma norepinephrine and epinephrine AND a five- to tenfold elevation of plasma dopamine, a finding probably pathognomonic of DBH deficiency. DBH is the only gene in which mutations are known to cause DBH deficiency.--- DBH deficiency is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives is possible if both disease-causing mutations in the family are known. If the disease-causing mutations have been identified in an affected family member, prenatal testing for at-risk pregnancies is possible through laboratories offering either prenatal testing for the gene of interest or custom testing.	KEGG pathway: Tyrosine metabolism--- KEGG pathway: Metabolic pathways--- Reactome Event:Metabolism	136501485	136524466	+	9	DBH	Homo sapiens Annotation Release 105	9q34	0
pathway-nonregistered-2015-12-11_12:11:11	26468	Homo sapiens	human	608215	LHX6.1	This gene encodes a member of a large protein family that contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator and may be involved in the control of differentiation and development of neural and lymphoid cells. Two alternatively spliced transcript variants encoding distinct isoforms have been described for this gene. Alternatively spliced transcript variants have been identified, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]	LIM homeobox 6			124964856	124991166	-	9	LHX6	Homo sapiens Annotation Release 105	9q33.2	0
pathway-nonregistered-2015-12-11_12:11:11	1814	Homo sapiens	human	126451	D3DR ETM1 FET1	This gene encodes the D3 subtype of the five (D1-D5) dopamine receptors. The activity of the D3 subtype receptor is mediated by G proteins which inhibit adenylyl cyclase. This receptor is localized to the limbic areas of the brain, which are associated with cognitive, emotional, and endocrine functions. Genetic variation in this gene may be associated with susceptibility to hereditary essential tremor 1. Alternative splicing of this gene results in transcript variants encoding different isoforms, although some variants may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Jul 2008]	dopamine receptor D3		KEGG pathway: Neuroactive ligand-receptor interaction--- KEGG pathway: Dopaminergic synapse--- Reactome Event:Signal Transduction	113847499	113918254	-	3	DRD3	Homo sapiens Annotation Release 105	3q13.3	0
pathway-nonregistered-2015-12-11_12:11:11	1813	Homo sapiens	human	126450	D2R D2DR	This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing of this gene results in two transcript variants encoding different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing. [provided by RefSeq, Jul 2008]	dopamine receptor D2		KEGG pathway: Dopaminergic synapse--- KEGG pathway: Gap junction--- KEGG pathway: Rap1 signaling pathway--- KEGG pathway: Cocaine addiction--- KEGG pathway: Neuroactive ligand-receptor interaction--- KEGG pathway: Alcoholism--- Reactome Event:Signal Transduction	113280317	113346413	-	11	DRD2	Homo sapiens Annotation Release 105	11q23	0
pathway-nonregistered-2015-12-11_12:11:11	26047	Homo sapiens	human	604569	CDFE NRXN4 AUTS15 CASPR2 PTHSL1	This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons, and mediates interactions between neurons and glia during nervous system development and is also involved in localization of potassium channels within differentiating axons. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It is directly bound and regulated by forkhead box protein P2 (FOXP2), a transcription factor related to speech and language development. This gene has been implicated in multiple neurodevelopmental disorders, including Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and mental retardation.[provided by RefSeq, Mar 2010]	contactin associated protein-like 2	No evidence available (Last evaluated (2013-08-15)--- Little evidence for dosage pathogenicity (Last evaluated (2013-08-15)	KEGG pathway: Cell adhesion molecules (CAMs)	145813453	148118090	+	7	CNTNAP2	Homo sapiens Annotation Release 105	7q35	0
pathway-nonregistered-2015-12-11_12:11:11	9378	Homo sapiens	human	600565	PTHSL2 SCZD17 Hs.22998	Neurexins function in the vertebrate nervous system as cell adhesion molecules and receptors. Two neurexin genes are among the largest known in human (NRXN1 and NRXN3). By using alternate promoters, splice sites and exons, predictions of hundreds or even thousands of distinct mRNAs have been made. Most transcripts use the upstream promoter and encode alpha-neurexin isoforms; fewer transcripts are produced from the downstream promoter and encode beta-neurexin isoforms. Alpha-neurexins contain epidermal growth factor-like (EGF-like) sequences and laminin G domains, and they interact with neurexophilins. Beta-neurexins lack EGF-like sequences and contain fewer laminin G domains than alpha-neurexins. The RefSeq Project has decided to create only a few representative transcript variants of the multitude that are possible. [provided by RefSeq, Oct 2008]	neurexin 1	No evidence available (Last evaluated (2013-09-11)--- Sufficient evidence for dosage pathogenicity (Last evaluated (2013-09-11)	KEGG pathway: Cell adhesion molecules (CAMs)--- Reactome Event:Extracellular matrix organization	50145643	51259674	-	2	NRXN1	Homo sapiens Annotation Release 105	2p16.3	0
pathway-nonregistered-2015-12-11_12:11:11	114781	Homo sapiens	human	611237	dJ322I12.1	This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011]	BTB (POZ) domain containing 9			38136227	38608202	-	6	BTBD9	Homo sapiens Annotation Release 105	6p21	0
pathway-nonregistered-2015-12-11_12:11:11	114798	Homo sapiens	human	609678	TTM LRRC12	This gene encodes a member of the SLITRK protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with trk neurotrophin receptors. However, the protein encoded by this gene lacks the region of homology to neurotrophin receptors. This protein is thought to be involved in neurite outgrowth. Mutations in this gene may be associated with Tourette syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]	SLIT and NTRK-like family, member 1			84451340	84456528	-	13	SLITRK1	Homo sapiens Annotation Release 105	13q31.1	0
pathway-nonregistered-2015-12-11_12:11:11	121278	Homo sapiens	human	607478	NTPH ADHD7	This gene encodes a member of the pterin-dependent aromatic acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neurotransmitter. The human genome contains two related tryptophan hydroxylases, one on chromosome 11p15-p14 and one on chromosome 12q21. This gene is expressed predominantly in the brain stem. Mutations in this gene may be associated with psychiatric diseases such as bipolar affective disorder and major depression. [provided by RefSeq, Jul 2008]	tryptophan hydroxylase 2		KEGG pathway: Serotonergic synapse--- KEGG pathway: Tryptophan metabolism--- KEGG pathway: Metabolic pathways--- Reactome Event:Metabolism	72332626	72426221	+	12	TPH2	Homo sapiens Annotation Release 105	12q21.1	0
pathway-nonregistered-2015-12-11_12:11:11	1812	Homo sapiens	human	126449	DADR DRD1A	This gene encodes the D1 subtype of the dopamine receptor. The D1 subtype is the most abundant dopamine receptor in the central nervous system. This G-protein coupled receptor stimulates adenylyl cyclase and activates cyclic AMP-dependent protein kinases. D1 receptors regulate neuronal growth and development, mediate some behavioral responses, and modulate dopamine receptor D2-mediated events. Alternate transcription initiation sites result in two transcript variants of this gene. [provided by RefSeq, Jul 2008]	dopamine receptor D1		KEGG pathway: Neuroactive ligand-receptor interaction--- KEGG pathway: Calcium signaling pathway--- KEGG pathway: Gap junction--- KEGG pathway: Dopaminergic synapse--- KEGG pathway: Amphetamine addiction--- KEGG pathway: Alcoholism--- KEGG pathway: Cocaine addiction--- KEGG pathway: Morphine addiction--- Reactome Event:Signal Transduction	174867675	174871163	-	5	DRD1	Homo sapiens Annotation Release 105	5q35.1	0
pathway-nonregistered-2015-12-11_12:11:11	1815	Homo sapiens	human	126452	D4DR	This gene encodes the D4 subtype of the dopamine receptor. The D4 subtype is a G-protein coupled receptor which inhibits adenylyl cyclase. It is a target for drugs which treat schizophrenia and Parkinson disease. Mutations in this gene have been associated with various behavioral phenotypes, including autonomic nervous system dysfunction, attention deficit/hyperactivity disorder, and the personality trait of novelty seeking. This gene contains a polymorphic number (2-10 copies) of tandem 48 nt repeats; the sequence shown contains four repeats. [provided by RefSeq, Jul 2008]	dopamine receptor D4		KEGG pathway: Neuroactive ligand-receptor interaction--- KEGG pathway: Dopaminergic synapse	637305	640706	+	11	DRD4	Homo sapiens Annotation Release 105	11p15.5	0
pathway-nonregistered-2015-12-11_12:11:11	3358	Homo sapiens	human	312861	HTR1C 5-HT2C 5-HTR2C	Serotonin (5-hydroxytryptamine, 5-HT), a neurotransmitter, elicits a wide array of physiological effects by binding to several receptor subtypes, including the 5-HT2 family of seven-transmembrane-spanning, G-protein-coupled receptors, which activate phospholipase C and D signaling pathways. This gene encodes the 2C subtype of serotonin receptor and its mRNA is subject to multiple RNA editing events, where genomically encoded adenosine residues are converted to inosines. RNA editing is predicted to alter amino acids within the second intracellular loop of the 5-HT2C receptor and generate receptor isoforms that differ in their ability to interact with G proteins and the activation of phospholipase C and D signaling cascades, thus modulating serotonergic neurotransmission in the central nervous system. Studies in humans have reported abnormalities in patterns of 5-HT2C editing in depressed suicide victims. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled		KEGG pathway: Calcium signaling pathway--- KEGG pathway: Gap junction--- KEGG pathway: Serotonergic synapse--- KEGG pathway: Neuroactive ligand-receptor interaction--- Reactome Event:Signal Transduction	113818551	114144624	+	X	HTR2C	Homo sapiens Annotation Release 105	Xq24	0
pathway-nonregistered-2015-12-11_12:11:11	431707	Homo sapiens	human	604425	LHX7	The protein encoded by this gene is a member of the LIM homeobox family of proteins, which are involved in patterning and differentiation of various tissue types. These proteins contain two tandemly repeated cysteine-rich double-zinc finger motifs known as LIM domains, in addition to a DNA-binding homeodomain. This family member is a transcription factor that plays a role in tooth morphogenesis. It is also involved in oogenesis and in neuronal differentiation. This gene is a candidate gene for cleft palate, and it is also associated with odontoma formation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]	LIM homeobox 8			75594119	75627218	+	1	LHX8	Homo sapiens Annotation Release 105	1p31.1	0
pathway-nonregistered-2015-12-11_12:11:11	59277	Homo sapiens	human	610401	PRO3091	NTN4 belongs to a family of proteins related to laminins (see LAMA1, MIM 150320) Koch et al. (2000) [PubMed 11038171].[supplied by OMIM, Mar 2008]	netrin 4		KEGG pathway: Axon guidance--- Reactome Event:Developmental Biology--- Reactome Event:Extracellular matrix organization	96051583	96184565	-	12	NTN4	Homo sapiens Annotation Release 105	12q22	0
pathway-nonregistered-2015-12-11_12:11:11	83943	Homo sapiens	human	605977	IMP2 IMP2-LIKE	This gene encodes a protein involved in processing the signal peptide sequences used to direct mitochondrial proteins to the mitochondria. The encoded protein resides in the mitochondria and is one of the necessary proteins for the catalytic activity of the mitochondrial inner membrane peptidase (IMP) complex. Two variants that encode the same protein have been described for this gene. [provided by RefSeq, Sep 2011]	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)		KEGG pathway: Protein export	110303106	111202588	-	7	IMMP2L	Homo sapiens Annotation Release 105	7q31	0