CLCN4 (chloride voltage-gated channel 4)

Gene

• Entrez ID: 1183
• Gene name: Chloride voltage-gated channel 4
• Gene symbol: CLCN4
• Synonyms (NCBI Gene): CLC4, ClC-4, ClC-4A, MRX15, MRX49, MRXSRC
• Chromosome: X
• Chromosome location: Xp22.2
• Summary: The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. Chloride channel 4 has an evolutionary conserve

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs483352716	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs587777161	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs879255580	T>G	Pathogenic	Missense variant, coding sequence variant
rs879255581	T>C	Pathogenic	Missense variant, coding sequence variant
rs879255582	C>T	Pathogenic	Missense variant, coding sequence variant
rs879255583	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs879255584	C>T	Pathogenic	Missense variant, coding sequence variant
rs879255585	G>A,C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs879255586	->A	Pathogenic	Frameshift variant, coding sequence variant
rs879255590	G>A	Uncertain-significance, pathogenic	Intron variant
rs879255591	G>A	Uncertain-significance, likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1131691687	G>A	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs1246068842	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555973635	A>G	Likely-pathogenic	Intron variant, missense variant, initiator codon variant
rs1555976161	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555976933	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555976973	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1555977164	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1569226551	G>A	Pathogenic	Coding sequence variant, missense variant, intron variant
rs1569230006	C>G	Pathogenic	Coding sequence variant, missense variant
rs1569231897	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569233549	G>C	Pathogenic	Coding sequence variant, missense variant
rs1602159841	G>A	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT894574	hsa-miR-1252	CLIP-seq
MIRT894575	hsa-miR-1260	CLIP-seq
MIRT894576	hsa-miR-1260b	CLIP-seq
MIRT894577	hsa-miR-1276	CLIP-seq
MIRT894578	hsa-miR-1283	CLIP-seq
MIRT894579	hsa-miR-145	CLIP-seq
MIRT894580	hsa-miR-188-3p	CLIP-seq
MIRT894581	hsa-miR-300	CLIP-seq
MIRT894582	hsa-miR-3156-3p	CLIP-seq
MIRT894583	hsa-miR-3163	CLIP-seq
MIRT894584	hsa-miR-3168	CLIP-seq
MIRT894585	hsa-miR-3176	CLIP-seq
MIRT894586	hsa-miR-3202	CLIP-seq
MIRT894587	hsa-miR-320a	CLIP-seq
MIRT894588	hsa-miR-320b	CLIP-seq
MIRT894589	hsa-miR-320c	CLIP-seq
MIRT894590	hsa-miR-320d	CLIP-seq
MIRT894591	hsa-miR-3662	CLIP-seq
MIRT894592	hsa-miR-3667-3p	CLIP-seq
MIRT894593	hsa-miR-371b-5p	CLIP-seq
MIRT894594	hsa-miR-381	CLIP-seq
MIRT894595	hsa-miR-3922-3p	CLIP-seq
MIRT894596	hsa-miR-3942-5p	CLIP-seq
MIRT894597	hsa-miR-4276	CLIP-seq
MIRT894598	hsa-miR-4302	CLIP-seq
MIRT894599	hsa-miR-4311	CLIP-seq
MIRT894600	hsa-miR-4328	CLIP-seq
MIRT894601	hsa-miR-4429	CLIP-seq
MIRT894602	hsa-miR-4533	CLIP-seq
MIRT894603	hsa-miR-4540	CLIP-seq
MIRT894604	hsa-miR-4652-3p	CLIP-seq
MIRT894605	hsa-miR-4654	CLIP-seq
MIRT894606	hsa-miR-4698	CLIP-seq
MIRT894607	hsa-miR-4703-5p	CLIP-seq
MIRT894608	hsa-miR-4731-5p	CLIP-seq
MIRT894609	hsa-miR-4744	CLIP-seq
MIRT894610	hsa-miR-4769-5p	CLIP-seq
MIRT894611	hsa-miR-499a-5p	CLIP-seq
MIRT894612	hsa-miR-583	CLIP-seq
MIRT894613	hsa-miR-617	CLIP-seq
MIRT894614	hsa-miR-629	CLIP-seq
MIRT1965303	hsa-miR-1208	CLIP-seq
MIRT1965304	hsa-miR-132	CLIP-seq
MIRT1965305	hsa-miR-194	CLIP-seq
MIRT1965306	hsa-miR-204	CLIP-seq
MIRT1965307	hsa-miR-211	CLIP-seq
MIRT1965308	hsa-miR-212	CLIP-seq
MIRT1965309	hsa-miR-3591-3p	CLIP-seq
MIRT1965310	hsa-miR-3924	CLIP-seq
MIRT1965311	hsa-miR-4254	CLIP-seq
MIRT1965312	hsa-miR-4427	CLIP-seq
MIRT1965313	hsa-miR-4434	CLIP-seq
MIRT1965314	hsa-miR-4516	CLIP-seq
MIRT1965315	hsa-miR-452	CLIP-seq
MIRT1965316	hsa-miR-4531	CLIP-seq
MIRT1965317	hsa-miR-4676-3p	CLIP-seq
MIRT1965318	hsa-miR-4755-5p	CLIP-seq
MIRT1965319	hsa-miR-4793-5p	CLIP-seq
MIRT1965320	hsa-miR-490-3p	CLIP-seq
MIRT1965321	hsa-miR-548a-5p	CLIP-seq
MIRT1965322	hsa-miR-548ab	CLIP-seq
MIRT1965323	hsa-miR-548ak	CLIP-seq
MIRT1965324	hsa-miR-548b-5p	CLIP-seq
MIRT1965325	hsa-miR-548c-5p	CLIP-seq
MIRT1965326	hsa-miR-548d-5p	CLIP-seq
MIRT1965327	hsa-miR-548h	CLIP-seq
MIRT1965328	hsa-miR-548i	CLIP-seq
MIRT1965329	hsa-miR-548j	CLIP-seq
MIRT1965330	hsa-miR-548m	CLIP-seq
MIRT1965331	hsa-miR-548w	CLIP-seq
MIRT1965332	hsa-miR-548y	CLIP-seq
MIRT1965333	hsa-miR-559	CLIP-seq
MIRT1965334	hsa-miR-619	CLIP-seq
MIRT1965335	hsa-miR-623	CLIP-seq
MIRT1965336	hsa-miR-649	CLIP-seq
MIRT1965337	hsa-miR-802	CLIP-seq
MIRT2201271	hsa-miR-1323	CLIP-seq
MIRT2201272	hsa-miR-15a	CLIP-seq
MIRT2201273	hsa-miR-15b	CLIP-seq
MIRT2201274	hsa-miR-16	CLIP-seq
MIRT2201275	hsa-miR-195	CLIP-seq
MIRT894584	hsa-miR-3168	CLIP-seq
MIRT894593	hsa-miR-371b-5p	CLIP-seq
MIRT2201276	hsa-miR-424	CLIP-seq
MIRT894597	hsa-miR-4276	CLIP-seq
MIRT894598	hsa-miR-4302	CLIP-seq
MIRT2201277	hsa-miR-4524	CLIP-seq
MIRT894606	hsa-miR-4698	CLIP-seq
MIRT894608	hsa-miR-4731-5p	CLIP-seq
MIRT1965319	hsa-miR-4793-5p	CLIP-seq
MIRT2201278	hsa-miR-4803	CLIP-seq
MIRT2201279	hsa-miR-496	CLIP-seq
MIRT2201280	hsa-miR-497	CLIP-seq
MIRT2201281	hsa-miR-503	CLIP-seq
MIRT2201282	hsa-miR-545	CLIP-seq
MIRT2201283	hsa-miR-548o	CLIP-seq
MIRT2201284	hsa-miR-548p	CLIP-seq
MIRT894614	hsa-miR-629	CLIP-seq
MIRT2201285	hsa-miR-646	CLIP-seq
MIRT1965337	hsa-miR-802	CLIP-seq
MIRT1965311	hsa-miR-4254	CLIP-seq
MIRT2447127	hsa-miR-4282	CLIP-seq
MIRT1965313	hsa-miR-4434	CLIP-seq
MIRT1965314	hsa-miR-4516	CLIP-seq
MIRT1965316	hsa-miR-4531	CLIP-seq
MIRT1965320	hsa-miR-490-3p	CLIP-seq
MIRT2447128	hsa-miR-513a-3p	CLIP-seq
MIRT1965334	hsa-miR-619	CLIP-seq
MIRT1965336	hsa-miR-649	CLIP-seq
MIRT1965303	hsa-miR-1208	CLIP-seq
MIRT2504059	hsa-miR-1269	CLIP-seq
MIRT2504060	hsa-miR-1269b	CLIP-seq
MIRT2504061	hsa-miR-1301	CLIP-seq
MIRT2504062	hsa-miR-1825	CLIP-seq
MIRT2504063	hsa-miR-199a-5p	CLIP-seq
MIRT2504064	hsa-miR-199b-5p	CLIP-seq
MIRT2504065	hsa-miR-3125	CLIP-seq
MIRT2504066	hsa-miR-3148	CLIP-seq
MIRT2504067	hsa-miR-3161	CLIP-seq
MIRT2504068	hsa-miR-3183	CLIP-seq
MIRT2504069	hsa-miR-3200-5p	CLIP-seq
MIRT2504070	hsa-miR-3667-5p	CLIP-seq
MIRT2504071	hsa-miR-3912	CLIP-seq
MIRT2504072	hsa-miR-3916	CLIP-seq
MIRT2504073	hsa-miR-4324	CLIP-seq
MIRT2504074	hsa-miR-4420	CLIP-seq
MIRT2504075	hsa-miR-4504	CLIP-seq
MIRT2504076	hsa-miR-4520b-3p	CLIP-seq
MIRT2504077	hsa-miR-4529-3p	CLIP-seq
MIRT2504078	hsa-miR-4633-5p	CLIP-seq
MIRT2504079	hsa-miR-4660	CLIP-seq
MIRT2504080	hsa-miR-4723-3p	CLIP-seq
MIRT2504081	hsa-miR-4749-3p	CLIP-seq
MIRT1965319	hsa-miR-4793-5p	CLIP-seq
MIRT2504082	hsa-miR-5047	CLIP-seq
MIRT2504083	hsa-miR-511	CLIP-seq
MIRT2504084	hsa-miR-532-5p	CLIP-seq
MIRT2504085	hsa-miR-549	CLIP-seq
MIRT2504086	hsa-miR-562	CLIP-seq
MIRT1965337	hsa-miR-802	CLIP-seq
MIRT2504087	hsa-miR-892a	CLIP-seq
MIRT2504068	hsa-miR-3183	CLIP-seq
MIRT2504070	hsa-miR-3667-5p	CLIP-seq
MIRT2504071	hsa-miR-3912	CLIP-seq
MIRT2504078	hsa-miR-4633-5p	CLIP-seq
MIRT2504080	hsa-miR-4723-3p	CLIP-seq
MIRT1965319	hsa-miR-4793-5p	CLIP-seq
MIRT2504084	hsa-miR-532-5p	CLIP-seq
MIRT2504085	hsa-miR-549	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005247	Function	Voltage-gated chloride channel activity	IBA
GO:0005247	Function	Voltage-gated chloride channel activity	IEA
GO:0005247	Function	Voltage-gated chloride channel activity	TAS	8069296
GO:0005254	Function	Chloride channel activity	IDA	10564087
GO:0005254	Function	Chloride channel activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005524	Function	ATP binding	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IDA	28972156
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	17023393, 27550844, 28972156
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005886	Component	Plasma membrane	IBA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IDA	10564087
GO:0006821	Process	Chloride transport	IEA
GO:0006821	Process	Chloride transport	IMP	23647072, 25644381
GO:0008021	Component	Synaptic vesicle	IBA
GO:0010008	Component	Endosome membrane	IDA	28972156
GO:0010008	Component	Endosome membrane	TAS
GO:0015108	Function	Chloride transmembrane transporter activity	IEA
GO:0015297	Function	Antiporter activity	IDA	28972156
GO:0015297	Function	Antiporter activity	IEA
GO:0015297	Function	Antiporter activity	IMP	23647072, 27550844
GO:0015297	Function	Antiporter activity	TAS
GO:0016020	Component	Membrane	IEA
GO:0031901	Component	Early endosome membrane	IEA
GO:0031902	Component	Late endosome membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0055037	Component	Recycling endosome	IDA	28972156
GO:0055038	Component	Recycling endosome membrane	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0097546	Component	Ciliary base	IEA
GO:1902476	Process	Chloride transmembrane transport	IEA
GO:1905515	Process	Non-motile cilium assembly	IEA

Other IDs

• MIM: 302910
• HGNC: 2022
• e!Ensembl: ENSG00000073464

Protein

• UniProt ID: P51793
• Protein name: H(+)/Cl(-) exchange transporter 4 (Chloride channel protein 4) (ClC-4) (Chloride transporter ClC-4)
• Protein function: Strongly outwardly rectifying, electrogenic H(+)/Cl(-)exchanger which mediates the exchange of chloride ions against protons (PubMed:18063579, PubMed:23647072, PubMed:25644381, PubMed:27550844, PubMed:28972156). The CLC channel family contains b
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00654	Voltage_CLC	162 → 565	Voltage gated chloride channel	Family
  PF00571	CBS	596 → 660	CBS domain	Domain
  PF00571	CBS	693 → 748	CBS domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Abundant in skeletal muscle and also detectable in brain and heart.
• Sequence:

  MVNAGAMSGSGNLMDFLDEPFPDVGTYEDFHTIDWLREKSRDTDRHRKITSKSKESIWEF
  IKSLLDAWSGWVVMLLIGLLAGTLAGVIDLAVDWMTDLKEGVCLSAFWYSHEQCCWTSNE
  TTFEDRDKCPLWQKWSELLVNQSEGASAYILNYLMYILWALLFAFLAVSLVRVFAPYACG
  SGIPEIKTILSGFIIRGYLGKWTLLIKTVTLVLVVSSGLSLGKEGPLVHVACCCGNFFSS
  LFSKYSKNEGKRREVLSAAAAAGVSVAFGAPIGGVLFSLEEVSYYFPLKTLWRSFFAALV
  AAFTLRSINPFGNSRLVLFYVEYHTPWYMAELFPFILLGVFGGLWGTLFIRCNIAWCRRR
  KTTRLGKYPVLEVIVVTAITAIIAYPNPYTRQSTSELISELFNDCGALESSQLCDYINDP
  NMTRPVDDIPDRPAGVGVYTAMWQLALALIFKIVVTIFTFGMKIPSGLFIPSMAVGAIAG
  RMVGIGVEQLAYHHHDWIIFRNWCRPGADCVTPGLYAMVGAAACLGGVTRMTVSLVVIMF
  ELTGGLEYIVPLMAAAVTSKWVADAFGKEGIYEAHIHLNGYPFLDVKDEFTHRTLATDVM
  RPRRGEPPLSVLTQDSMTVEDVETLIKETDYNGFPVVVSRDSERLIGFAQRRELILAIKN
  ARQRQEGIVSNSIMYFTEEPPELPANSPHPLKLRRILNLSPFTVTDHTPMETVVDIFRKL
  GLRQCLVTRSGRLLGIITKKDVLRHMAQMANQDPESIMFN

• Sequence length: 760

Pathways

KEGG:

Neutrophil extracellular trap formation

Reactome:

Stimuli-sensing channels

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
CLCN4-related disorder	Pathogenic; Likely pathogenic	rs879255580, rs879255581, rs879255582, rs879255583, rs879255584, rs879255585, rs879255586, rs587777161, rs1131691687	RCV000239752 RCV000239766 RCV000239736 RCV000239763 RCV000239734 RCV000239756 RCV000239738 RCV000239727 RCV000509195	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs1064796023	RCV001260685	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, X-linked 49	Pathogenic; Likely pathogenic	rs587777161, rs2147179499, rs2147178526, rs2147167432, rs2518884246, rs2518885322, rs2518892925, rs2518884516, rs2518884524, rs879255583, rs879255584, rs1923775114, rs1569233549, rs1569230006, rs1569231897, rs2518889391, rs2518889369, rs2518885361, rs1064796023, rs1602159841, rs1924061524, rs1924631837, rs1924399093, rs1924450715	RCV000087143 RCV001788508 RCV001775348 RCV002226896 RCV003333787 RCV003333796 RCV003333797 RCV003333800 RCV003333801 RCV003333742 RCV000721130 RCV000239554 RCV000239467 RCV000239579 RCV000239489 RCV003883297 RCV003883369 RCV004555074 RCV003333750 RCV000995508 RCV001253343 RCV001253788 RCV001263498 RCV001270442	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CLCN4-RELATED X-LINKED INTELLECTUAL DISABILITY SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 81	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability, X-linked 81	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED NONSYNDROMIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-syndromic X-linked intellectual disability	Uncertain significance	ClinVar ClinGen, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nonpapillary renal cell carcinoma	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rare genetic intellectual disability	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Albinism, Ocular	Ocular albinism	BEFREE	18194880		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	29314583	Associate	★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chondrodysplasia Punctata	Chondrodysplasia Punctata	BEFREE	10232745		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Classical Lissencephaly	Lissencephaly	BEFREE	29338612		★☆☆☆☆ Found in Text Mining only
CLCN4-related X-linked intellectual disability syndrome	Mental Retardation, X-Linked	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon Carcinoma	Colon Carcinoma	BEFREE	20087350		★☆☆☆☆ Found in Text Mining only
Complex partial seizure with impairment of consciousness	Dyscognitive seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	10232745, 18194880		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	37671947	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	29314583	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	23647072, 27550844, 28972156		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	28972156	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Absence	Absence epilepsy	Pubtator	36842888	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	36842888	Associate	★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	37271660	Associate	★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Focal Tonic Seizures	Focal Tonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	25246152		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	10232745, 11186896, 18194880, 27550844, 28972156		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	28972156, 34479510	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukomalacia, Periventricular	Periventricular Leukomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	20087350		★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	10232745, 11186896, 18194880		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	8826458, 9415477		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 1	Mental Retardation, X-Linked	ORPHANET_DG	25644381		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 15	Mental retardation	GENOMICS_ENGLAND_DG	23647072, 25644381		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 15	Mental retardation	UNIPROT_DG	23647072, 25644381		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 15	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 15	Mental retardation	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked Nonsyndromic	Mental retardation	CLINGEN_DG	23647072, 25644381, 27550844		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, SYNDROMIC 7	Syndromic microphthalmia	BEFREE	7759088		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild neurosensory hearing impairment	Neurosensory Hearing impairment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	BEFREE	9415477		★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy Juvenile	Myoclonic epilepsy	Pubtator	36842888	Associate	★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	BEFREE	8826458		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	25246152		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ocular albinism, type I	Ocular albinism	BEFREE	7759088, 8661129		★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	29314583	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
X-linked non-syndromic intellectual disability	Non-Syndromic Intellectual Disability, X-Linked	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations