NLGN4X (neuroligin 4 X-linked)

Gene

• Entrez ID: 57502
• Gene name: Neuroligin 4 X-linked
• Gene symbol: NLGN4X
• Synonyms (NCBI Gene): ASPGX2, AUTSX2, HLNX, HNL4X, NLGN4
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 300427
• HGNC: 14287
• e!Ensembl: ENSG00000146938

Protein

• UniProt ID: 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

Pathways

KEGG:

Cell adhesion molecules

Reactome:

Neurexins and neuroligins

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autism, susceptibility to, X-linked 2	Likely pathogenic; Pathogenic	rs2518474197, rs1569118680, rs756651509	RCV003226059 RCV000032596 RCV000415088	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked intellectual disability	Pathogenic	rs1569118680	RCV002470708	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asperger syndrome, X-linked, susceptibility to, 2	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Uncertain significance	ClinVar CTD	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NLGN4X-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	27209355		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	12669065, 16648374, 18252227, 18555979, 21569590, 22892527, 22952857, 23710042, 32155636, 32243781	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	12669065, 16077734, 16508939, 18189281, 18252227, 18555979, 19545860, 19726642, 21569590, 22723984, 23393157, 23468870, 23710042, 25675530, 26055424, 28841651, 29106499, 29428674		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	18252227		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	BEFREE	14963808, 19645625		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	12669065, 14963808, 15274046, 15389766, 16077734, 16470742, 16508939, 16648374, 18189281, 18194880, 18231125, 18413370, 18628683, 19160128, 19545860, 19645625, 19726642, 21278334, 21642956, 22106001, 23851596, 24570023, 25452430, 27865048, 29339486, 29724786, 31257103		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	12669065		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	12669065, 16648374, 18555979, 24204716, 27782075, 29244827, 31852540, 32155636, 32243781, 33268543, 36747195	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	LHGDN	16077734, 16508939, 16648374		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Diseases	Brain disease	Pubtator	18555979	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29244827		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29244827	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	28122887		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33268543	Associate	★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	18231125		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	29622757	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	BEFREE	28122887		★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	18413370		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	14963808, 16470742, 17391250, 18231125, 18628683, 19125102, 19160128, 19545860, 22106001, 26055424		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	32243781	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Learning Disabilities	Learning Disorders	BEFREE	18194880		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29244827		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29244827		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	20714171, 23851596		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	14963808, 16470742, 18231125, 18628683, 19160128, 19545860		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	14963808		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked Nonsyndromic	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	BEFREE	18194880		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27209355		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	23393157		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental disorder	Pubtator	23710042	Associate	★☆☆☆☆ Found in Text Mining only
Night blindness congenital stationary	Night blindness, congenital stationary	Pubtator	33268543	Associate	★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Asperger syndrome	Asperger Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Autism	Autism	Orphanet			★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	27209355		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	14963808, 18189281, 22723984		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	22952857	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	25056061, 29483656		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	27865048		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only