Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	57502
Gene name	Neuroligin 4 X-linked
Gene symbol	NLGN4X
Synonyms (NCBI Gene)	ASPGX2AUTSX2HLNXHNL4XNLGN4
Chromosome	X
Chromosome location	Xp22.32-p22.31
Summary	This gene encodes a member of the type-B carboxylesterase/lipase protein family. The encoded protein belongs to a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involv

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs398124367	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs756651509	G>A	Pathogenic	Coding sequence variant, stop gained
rs1555913640	G>A	Pathogenic	Missense variant, coding sequence variant
rs1569118680	TC>-	Pathogenic, risk-factor	Coding sequence variant, frameshift variant
rs1569118853	->A	Risk-factor	Coding sequence variant, stop gained

224

Show/Hide all (224)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019360	hsa-miR-148b-3p	Microarray	17612493
MIRT029196	hsa-miR-26b-5p	Microarray	19088304
MIRT574576	hsa-miR-8066	HITS-CLIP	21572407
MIRT515781	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT574575	hsa-miR-6831-3p	HITS-CLIP	21572407
MIRT515780	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT515779	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT515778	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT515776	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT515775	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT623106	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT623105	hsa-miR-1248	HITS-CLIP	23824327
MIRT623104	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT623103	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT623102	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT623101	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT623100	hsa-miR-139-3p	HITS-CLIP	23824327
MIRT623099	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT623098	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT623097	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT623096	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT623095	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT623094	hsa-miR-5003-3p	HITS-CLIP	23824327
MIRT623093	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT623092	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT623091	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT623090	hsa-miR-550b-3p	HITS-CLIP	23824327
MIRT574576	hsa-miR-8066	PAR-CLIP	20371350
MIRT515781	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT574575	hsa-miR-6831-3p	PAR-CLIP	20371350
MIRT515780	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT515779	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT515778	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT515776	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT515775	hsa-miR-574-5p	PAR-CLIP	20371350
MIRT515783	hsa-miR-4797-5p	PAR-CLIP	21572407
MIRT515781	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT515780	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT515779	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT515778	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT515777	hsa-miR-6083	PAR-CLIP	21572407
MIRT515776	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT515775	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT503995	hsa-miR-6507-5p	PAR-CLIP	22012620
MIRT503994	hsa-miR-203b-5p	PAR-CLIP	22012620
MIRT503993	hsa-miR-6718-5p	PAR-CLIP	22012620
MIRT503990	hsa-miR-5011-3p	PAR-CLIP	22012620
MIRT503989	hsa-miR-4666b	PAR-CLIP	22012620
MIRT503988	hsa-miR-6843-3p	PAR-CLIP	22012620
MIRT503987	hsa-miR-6848-3p	PAR-CLIP	22012620
MIRT535676	hsa-miR-23c	PAR-CLIP	22012620
MIRT535675	hsa-miR-130a-5p	PAR-CLIP	22012620
MIRT535674	hsa-miR-23a-3p	PAR-CLIP	22012620
MIRT535673	hsa-miR-23b-3p	PAR-CLIP	22012620
MIRT535672	hsa-miR-7-1-3p	PAR-CLIP	22012620
MIRT535671	hsa-miR-7-2-3p	PAR-CLIP	22012620
MIRT535670	hsa-miR-200b-3p	PAR-CLIP	22012620
MIRT535669	hsa-miR-200c-3p	PAR-CLIP	22012620
MIRT535668	hsa-miR-429	PAR-CLIP	22012620
MIRT535667	hsa-miR-323a-3p	PAR-CLIP	22012620
MIRT535666	hsa-miR-3654	PAR-CLIP	22012620
MIRT535665	hsa-miR-1243	PAR-CLIP	22012620
MIRT535664	hsa-miR-6504-3p	PAR-CLIP	22012620
MIRT535663	hsa-miR-1324	PAR-CLIP	22012620
MIRT535662	hsa-miR-6128	PAR-CLIP	22012620
MIRT515783	hsa-miR-4797-5p	PAR-CLIP	23446348
MIRT515782	hsa-miR-6501-3p	PAR-CLIP	23446348
MIRT515781	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT515780	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT515779	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT515778	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT515777	hsa-miR-6083	PAR-CLIP	23446348
MIRT515776	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT515775	hsa-miR-574-5p	PAR-CLIP	23446348
MIRT503995	hsa-miR-6507-5p	PAR-CLIP	23446348
MIRT503994	hsa-miR-203b-5p	PAR-CLIP	23446348
MIRT503993	hsa-miR-6718-5p	PAR-CLIP	23446348
MIRT503990	hsa-miR-5011-3p	PAR-CLIP	23446348
MIRT503989	hsa-miR-4666b	PAR-CLIP	23446348
MIRT503988	hsa-miR-6843-3p	PAR-CLIP	23446348
MIRT503987	hsa-miR-6848-3p	PAR-CLIP	23446348
MIRT503995	hsa-miR-6507-5p	PAR-CLIP	23446348
MIRT503994	hsa-miR-203b-5p	PAR-CLIP	23446348
MIRT503993	hsa-miR-6718-5p	PAR-CLIP	23446348
MIRT503992	hsa-miR-501-3p	PAR-CLIP	23446348
MIRT503991	hsa-miR-502-3p	PAR-CLIP	23446348
MIRT503990	hsa-miR-5011-3p	PAR-CLIP	23446348
MIRT503989	hsa-miR-4666b	PAR-CLIP	23446348
MIRT503988	hsa-miR-6843-3p	PAR-CLIP	23446348
MIRT503987	hsa-miR-6848-3p	PAR-CLIP	23446348
MIRT574576	hsa-miR-8066	HITS-CLIP	21572407
MIRT515781	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT574575	hsa-miR-6831-3p	HITS-CLIP	21572407
MIRT515780	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT515779	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT515778	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT515776	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT515775	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT623106	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT623105	hsa-miR-1248	HITS-CLIP	23824327
MIRT623104	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT623103	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT623102	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT623101	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT623100	hsa-miR-139-3p	HITS-CLIP	23824327
MIRT623099	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT623098	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT623097	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT623096	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT623095	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT623094	hsa-miR-5003-3p	HITS-CLIP	23824327
MIRT623093	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT623092	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT623091	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT623090	hsa-miR-550b-3p	HITS-CLIP	23824327
MIRT574576	hsa-miR-8066	PAR-CLIP	20371350
MIRT515781	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT574575	hsa-miR-6831-3p	PAR-CLIP	20371350
MIRT515780	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT515779	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT515778	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT515776	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT515775	hsa-miR-574-5p	PAR-CLIP	20371350
MIRT515783	hsa-miR-4797-5p	PAR-CLIP	21572407
MIRT515781	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT515780	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT515779	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT515778	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT515777	hsa-miR-6083	PAR-CLIP	21572407
MIRT515776	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT515775	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT503995	hsa-miR-6507-5p	PAR-CLIP	22012620
MIRT503994	hsa-miR-203b-5p	PAR-CLIP	22012620
MIRT503993	hsa-miR-6718-5p	PAR-CLIP	22012620
MIRT503990	hsa-miR-5011-3p	PAR-CLIP	22012620
MIRT503989	hsa-miR-4666b	PAR-CLIP	22012620
MIRT503988	hsa-miR-6843-3p	PAR-CLIP	22012620
MIRT503987	hsa-miR-6848-3p	PAR-CLIP	22012620
MIRT535676	hsa-miR-23c	PAR-CLIP	22012620
MIRT535675	hsa-miR-130a-5p	PAR-CLIP	22012620
MIRT535674	hsa-miR-23a-3p	PAR-CLIP	22012620
MIRT535673	hsa-miR-23b-3p	PAR-CLIP	22012620
MIRT535672	hsa-miR-7-1-3p	PAR-CLIP	22012620
MIRT535671	hsa-miR-7-2-3p	PAR-CLIP	22012620
MIRT535670	hsa-miR-200b-3p	PAR-CLIP	22012620
MIRT535669	hsa-miR-200c-3p	PAR-CLIP	22012620
MIRT535668	hsa-miR-429	PAR-CLIP	22012620
MIRT535667	hsa-miR-323a-3p	PAR-CLIP	22012620
MIRT535666	hsa-miR-3654	PAR-CLIP	22012620
MIRT535665	hsa-miR-1243	PAR-CLIP	22012620
MIRT535664	hsa-miR-6504-3p	PAR-CLIP	22012620
MIRT535663	hsa-miR-1324	PAR-CLIP	22012620
MIRT535662	hsa-miR-6128	PAR-CLIP	22012620
MIRT515783	hsa-miR-4797-5p	PAR-CLIP	23446348
MIRT515782	hsa-miR-6501-3p	PAR-CLIP	23446348
MIRT515781	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT515780	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT515779	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT515778	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT515777	hsa-miR-6083	PAR-CLIP	23446348
MIRT515776	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT515775	hsa-miR-574-5p	PAR-CLIP	23446348
MIRT503995	hsa-miR-6507-5p	PAR-CLIP	23446348
MIRT503994	hsa-miR-203b-5p	PAR-CLIP	23446348
MIRT503993	hsa-miR-6718-5p	PAR-CLIP	23446348
MIRT503990	hsa-miR-5011-3p	PAR-CLIP	23446348
MIRT503989	hsa-miR-4666b	PAR-CLIP	23446348
MIRT503988	hsa-miR-6843-3p	PAR-CLIP	23446348
MIRT503987	hsa-miR-6848-3p	PAR-CLIP	23446348
MIRT503995	hsa-miR-6507-5p	PAR-CLIP	23446348
MIRT503994	hsa-miR-203b-5p	PAR-CLIP	23446348
MIRT503993	hsa-miR-6718-5p	PAR-CLIP	23446348
MIRT503992	hsa-miR-501-3p	PAR-CLIP	23446348
MIRT503991	hsa-miR-502-3p	PAR-CLIP	23446348
MIRT503990	hsa-miR-5011-3p	PAR-CLIP	23446348
MIRT503989	hsa-miR-4666b	PAR-CLIP	23446348
MIRT503988	hsa-miR-6843-3p	PAR-CLIP	23446348
MIRT503987	hsa-miR-6848-3p	PAR-CLIP	23446348
MIRT1186776	hsa-miR-1237	CLIP-seq
MIRT1186777	hsa-miR-1290	CLIP-seq
MIRT1186778	hsa-miR-147	CLIP-seq
MIRT1186779	hsa-miR-205	CLIP-seq
MIRT1186780	hsa-miR-208a	CLIP-seq
MIRT1186781	hsa-miR-208b	CLIP-seq
MIRT1186782	hsa-miR-23a	CLIP-seq
MIRT1186783	hsa-miR-23b	CLIP-seq
MIRT1186784	hsa-miR-3124-3p	CLIP-seq
MIRT1186785	hsa-miR-3167	CLIP-seq
MIRT1186786	hsa-miR-3173-3p	CLIP-seq
MIRT1186787	hsa-miR-320e	CLIP-seq
MIRT1186788	hsa-miR-323-3p	CLIP-seq
MIRT1186789	hsa-miR-3658	CLIP-seq
MIRT1186790	hsa-miR-3920	CLIP-seq
MIRT1186791	hsa-miR-412	CLIP-seq
MIRT1186792	hsa-miR-4428	CLIP-seq
MIRT1186793	hsa-miR-4432	CLIP-seq
MIRT1186794	hsa-miR-4463	CLIP-seq
MIRT1186795	hsa-miR-4477b	CLIP-seq
MIRT1186796	hsa-miR-4522	CLIP-seq
MIRT1186797	hsa-miR-4659a-3p	CLIP-seq
MIRT1186798	hsa-miR-4659b-3p	CLIP-seq
MIRT1186799	hsa-miR-4777-5p	CLIP-seq
MIRT1186800	hsa-miR-499-5p	CLIP-seq
MIRT1186801	hsa-miR-518d-5p	CLIP-seq
MIRT1186802	hsa-miR-519b-5p	CLIP-seq
MIRT1186803	hsa-miR-519c-5p	CLIP-seq
MIRT1186804	hsa-miR-520c-5p	CLIP-seq
MIRT1186805	hsa-miR-526a	CLIP-seq
MIRT1186806	hsa-miR-593	CLIP-seq
MIRT1186807	hsa-miR-599	CLIP-seq
MIRT1186808	hsa-miR-876-5p	CLIP-seq
MIRT1186809	hsa-miR-942	CLIP-seq
MIRT1551775	hsa-miR-200b	CLIP-seq
MIRT1551776	hsa-miR-200c	CLIP-seq
MIRT1186782	hsa-miR-23a	CLIP-seq
MIRT1186783	hsa-miR-23b	CLIP-seq
MIRT1186788	hsa-miR-323-3p	CLIP-seq
MIRT1186779	hsa-miR-205	CLIP-seq
MIRT1186787	hsa-miR-320e	CLIP-seq
MIRT2283281	hsa-miR-382	CLIP-seq
MIRT1186790	hsa-miR-3920	CLIP-seq
MIRT2283282	hsa-miR-4307	CLIP-seq
MIRT2283283	hsa-miR-4639-5p	CLIP-seq
MIRT2283284	hsa-miR-549	CLIP-seq

Show/Hide all (55)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003360	Process	Brainstem development	ISS	18227507
GO:0005515	Function	Protein binding	IPI	11368788, 17292328, 20543817
GO:0005886	Component	Plasma membrane	IDA	11368788, 19726642
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0007158	Process	Neuron cell-cell adhesion	TAS	18923512
GO:0007612	Process	Learning	IMP	12669065
GO:0009986	Component	Cell surface	IDA	15150161, 17292328, 19726642
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	16377159
GO:0016020	Component	Membrane	TAS	21838267
GO:0021549	Process	Cerebellum development	ISS	18227507
GO:0030182	Process	Neuron differentiation	NAS	21278334
GO:0030425	Component	Dendrite	IDA	19726642
GO:0030534	Process	Adult behavior	IMP	12669065
GO:0031404	Function	Chloride ion binding	IDA	18093521
GO:0035176	Process	Social behavior	IMP	12669065, 19726642
GO:0035265	Process	Organ growth	ISS	18227507
GO:0042043	Function	Neurexin family protein binding	IDA	19726642
GO:0042043	Function	Neurexin family protein binding	IEA
GO:0042043	Function	Neurexin family protein binding	IPI	18093521
GO:0042803	Function	Protein homodimerization activity	IDA	18093521
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	ISS	18227507
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045216	Process	Cell-cell junction organization	NAS	11368788
GO:0050804	Process	Modulation of chemical synaptic transmission	IDA	31257103
GO:0050804	Process	Modulation of chemical synaptic transmission	IMP	31257103
GO:0050808	Process	Synapse organization	IMP	15150161
GO:0050808	Process	Synapse organization	NAS	11368788
GO:0050839	Function	Cell adhesion molecule binding	TAS	18923512
GO:0051963	Process	Regulation of synapse assembly	IDA	31257103
GO:0051963	Process	Regulation of synapse assembly	IMP	31257103
GO:0060076	Component	Excitatory synapse	IDA	15620359
GO:0071625	Process	Vocalization behavior	IMP	12669065, 19726642
GO:0071625	Process	Vocalization behavior	ISS	18227507
GO:0090394	Process	Negative regulation of excitatory postsynaptic potential	IDA	19726642
GO:0097105	Process	Presynaptic membrane assembly	IDA	19726642
GO:0097110	Function	Scaffold protein binding	IPI	11368788, 17292328
GO:0098839	Component	Postsynaptic density membrane	IDA	31257103
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098839	Component	Postsynaptic density membrane	IMP	31257103
GO:0098978	Component	Glutamatergic synapse	IDA	31257103
GO:0098978	Component	Glutamatergic synapse	IMP	31257103
GO:0098982	Component	GABA-ergic synapse	IDA	31257103
GO:0098982	Component	GABA-ergic synapse	IMP	31257103
GO:0098983	Component	Symmetric, GABA-ergic, inhibitory synapse	TAS	21838267
GO:0098984	Component	Neuron to neuron synapse	IEA
GO:0098985	Component	Asymmetric, glutamatergic, excitatory synapse	TAS	21838267
GO:0099054	Process	Presynapse assembly	IEA
GO:0099054	Process	Presynapse assembly	TAS	21838267
GO:0099634	Component	Postsynaptic specialization membrane	IBA
GO:0099634	Component	Postsynaptic specialization membrane	IDA	31257103
GO:0099634	Component	Postsynaptic specialization membrane	IMP	31257103

MIM	HGNC	e!Ensembl
300427	14287	ENSG00000146938

Q8N0W4

Protein name

Neuroligin-4, X-linked (Neuroligin X) (HNLX)

Protein function

Cell surface protein involved in cell-cell-interactions via its interactions with neurexin family members.

PDB

2WQZ , 2XB6 , 3BE8

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00135	COesterase	44 → 590	Carboxylesterase family	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed at highest levels in heart. Expressed at lower levels in liver, skeletal muscle and pancreas and at very low levels in brain. {ECO:0000269|PubMed:11368788}.

Sequence

MSRPQGLLWLPLLFTPVCVMLNSNVLLWLTALAIKFTLIDSQAQYPVVNTNYGKIRGLRT
PLPNEILGPVEQYLGVPYASPPTGERRFQPPEPPSSWTGIRNTTQFAAVCPQHLDERSLL
HDMLPIWFTANLDTLMTYVQDQNEDCLYLNIYVPTEDDIHDQNSKKPVMVYIHGGSYMEG
TGNMIDGSILASYGNVIVITINYRLGILGFLSTGDQAAKGNYGLLDQIQALRWIEENVGA
FGGDPKRVTIFGSGAGASCVSLLTLSHYSEGLFQKAIIQSGTALSSWAVNYQPAKYTRIL
ADKVGCNMLDTTDMVECLRNKNYKELIQQTITPATYHIAFGPVIDGDVIPDDPQILMEQG
EFLNYDIMLGVNQGEGLKFVDGIVDNEDGVTPNDFDFSVSNFVDNLYGYPEGKDTLRETI
KFMYTDWADKENPETRRKTLVALFTDHQWVAPAVATADLHAQYGSPTYFYAFYHHCQSEM
KPSWADSAHGDEVPYVFGIPMIGPTELFSCNFSKNDVMLSAVVMTYWTNFAKTGDPNQPV
PQDTKFIHTKPNRFEEVAWSKYNPKDQLYLHIGLKPRVRDHYRATKVAFWLELVPHLHNL
NEIFQYVSTTTKVPPPDMTSFPYGTRRSPAKIWPTTKRPAITPANNPKHSKDPHKTGPED
TTVLIETKRDYSTELSVTIAVGASLLFLNILAFAALYYKKDKRRHETHRRPSPQRNTTND
IAHIQNEEIMSLQMKQLEHDHECESLQAHDTLRLTCPPDYTLTLRRSPDDIPLMTPNTIT
MIPNTLTGMQPLHTFNTFSGGQNSTNLPHGHSTTRV

Sequence length

816

Interactions

View interactions

	KEGG		Reactome
	Cell adhesion molecules		Neurexins and neuroligins

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism, susceptibility to, X-linked 2	Likely pathogenic; Pathogenic	rs2518474197, rs1569118680, rs756651509	RCV003226059 RCV000032596 RCV000415088
X-linked intellectual disability	Pathogenic	rs1569118680	RCV002470708

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Asperger syndrome, X-linked, susceptibility to, 2	Uncertain significance; Benign; Likely benign	rs150566193, rs2031968875, rs149003627, rs886042929	RCV002496053 RCV002289407 RCV002503682 RCV000678276
Autism spectrum disorder	Uncertain significance	rs1016216590	RCV003128023
Colon adenocarcinoma	Uncertain significance	rs398124364	RCV005887628
History of neurodevelopmental disorder	Uncertain significance	rs199525017	RCV000721069
Intellectual disability	Uncertain significance	rs1226379186, rs764361221	RCV001257610 RCV001030828
NLGN4X-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs75350246, rs398124365, rs398124366, rs370784839, rs779110176, rs149003627, rs541646409, rs141662515, rs2519423008, rs748640243, rs750325986, rs777508939, rs995583516, rs144614029, rs768267134 View all (12 more)	RCV003935065 RCV003964943 RCV003915098 RCV004746444 RCV003960992 RCV003927643 RCV003947883 RCV003910008 RCV003399539 RCV003399593 RCV003408548 RCV003954212 RCV003919235 RCV003981195 RCV003907250 RCV003974506 RCV003902162 RCV003894394 RCV003904411 RCV003901478 RCV003901853 RCV003892292 RCV003947077 RCV003954529 RCV003920827 RCV003923244 RCV003960404
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs1406591773	RCV005901194

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Autism Spectrum Disorder	Associate	12669065, 16648374, 18252227, 18555979, 21569590, 22892527, 22952857, 23710042, 32155636, 32243781
Autistic Disorder	Associate	12669065, 16648374, 18555979, 24204716, 27782075, 29244827, 31852540, 32155636, 32243781, 33268543, 36747195
Brain Diseases	Associate	18555979
Breast Neoplasms	Stimulate	29244827
Developmental Disabilities	Associate	33268543
Hirschsprung Disease	Associate	29622757
Intellectual Disability	Associate	32243781
Neurodevelopmental Disorders	Associate	23710042
Night blindness congenital stationary	Associate	33268543
Schizophrenia	Associate	22952857

NLGN4X (neuroligin 4 X-linked)