GJB1 (gap junction protein beta 1)

Gene

• Entrez ID: 2705
• Gene name: Gap junction protein beta 1
• Gene symbol: GJB1
• Synonyms (NCBI Gene): CMTX, CMTX1, CX32
• Chromosome: X
• Chromosome location: Xq13.1
• Summary: This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequen

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894810	C>T	Pathogenic	Coding sequence variant, missense variant
rs104894811	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs104894812	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs104894813	T>C	Pathogenic	Coding sequence variant, missense variant
rs104894814	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs104894817	T>A,C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs104894818	T>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104894819	A>G	Pathogenic	Coding sequence variant, missense variant
rs104894820	G>A,T	Likely-benign, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs104894821	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs104894822	A>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs104894823	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs104894824	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs104894826	T>C	Pathogenic	Coding sequence variant, missense variant
rs116840815	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs116840816	G>C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs116840817	T>C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs116840818	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs116840819	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, missense variant
rs116840820	G>-	Pathogenic, uncertain-significance	Coding sequence variant, frameshift variant
rs116840821	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs116840822	G>A	Pathogenic, uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs116840823	CCGTCTTCA>-,CCGTCTTCACCGTCTTCA	Pathogenic, uncertain-significance, likely-pathogenic	Coding sequence variant, inframe deletion, inframe insertion
rs139643362	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs483352926	C>T	Pathogenic	Missense variant, coding sequence variant
rs587777876	C>A,G,T	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs587777877	C>G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs587777878	A>G	Pathogenic	Missense variant, coding sequence variant
rs587777879	C>T	Pathogenic	Missense variant, coding sequence variant
rs587781246	C>G,T	Likely-benign, pathogenic, benign	Missense variant, coding sequence variant
rs751230398	A>G,T	Likely-pathogenic	Splice acceptor variant
rs756000896	C>A,G,T	Uncertain-significance, pathogenic	Missense variant, synonymous variant, coding sequence variant
rs756928158	G>A,C	Likely-pathogenic, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs760123011	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs768834663	T>A,C	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs771022595	C>G,T	Likely-pathogenic, uncertain-significance, benign	Coding sequence variant, synonymous variant, missense variant
rs779696968	A>G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs786204095	C>G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs786204123	G>A	Uncertain-significance, likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs863224471	C>A,T	Uncertain-significance, likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs863224472	G>A	Pathogenic	Stop gained, coding sequence variant
rs863224612	T>C,G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs863224971	C>A,T	Pathogenic	Intron variant, 5 prime UTR variant
rs863224972	G>A,C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs863224973	C>A,T	Pathogenic	Synonymous variant, missense variant, coding sequence variant
rs863224974	G>A	Pathogenic	Missense variant, coding sequence variant
rs864622215	G>A,C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs876661119	G>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs876661143	C>G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs876661252	T>A,C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs876661269	T>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs878853697	C>G,T	Uncertain-significance, likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs879253909	G>A,C,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs879253935	G>A,C	Uncertain-significance, likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs879253946	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs879253995	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs879254012	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs879254047	G>A	Uncertain-significance, pathogenic	Intron variant, 5 prime UTR variant
rs879254096	G>A	Uncertain-significance, pathogenic	Stop gained, coding sequence variant
rs879254097	A>G	Uncertain-significance, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs879254098	T>C,G	Uncertain-significance, pathogenic	Synonymous variant, stop gained, coding sequence variant
rs879254099	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs913934445	T>C,G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1003232768	T>C	Likely-pathogenic	Genic upstream transcript variant, intron variant, upstream transcript variant
rs1057518780	T>A,C,G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1057518946	G>A,T	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1060500998	T>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1060501000	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1060501002	G>A,C	Uncertain-significance, likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1060501004	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1064793139	G>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1064794244	T>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1064795540	C>A,G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1064795785	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691258	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691322	A>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1213746899	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs1241595912	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1555936989	G>A,C	Uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant
rs1555936999	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1555937009	C>A,G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1555937015	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555937020	C>G,T	Uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant
rs1555937077	G>C,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1555937082	G>A,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1555937084	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1555937122	T>C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1555937135	GAG>-	Uncertain-significance, pathogenic	Inframe deletion, coding sequence variant
rs1555937143	->T	Uncertain-significance, likely-pathogenic	Stop gained, coding sequence variant
rs1555937150	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1555937161	A>G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1555937166	T>C,G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1555937168	TG>-	Uncertain-significance, pathogenic	Frameshift variant, coding sequence variant
rs1555937180	C>G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1555937197	T>C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1555937218	C>G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1555937221	->ACAGTGGACTGCTTCGTGTCCCGCCCCACC	Uncertain-significance, likely-pathogenic	Inframe insertion, coding sequence variant
rs1555937233	G>A,C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1555937270	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1569214985	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569215025	T>A,C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1569215061	A>G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1569215212	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569215263	T>C,G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1569215346	->A	Pathogenic, uncertain-significance	Coding sequence variant, frameshift variant
rs1569215418	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1569215424	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1569215443	C>A	Pathogenic, uncertain-significance	Coding sequence variant, stop gained
rs1569215591	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1602348726	->CATGG	Pathogenic	Coding sequence variant, frameshift variant
rs1602348782	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1602348794	AG>-	Pathogenic, uncertain-significance	Coding sequence variant, frameshift variant
rs1602348981	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs1602349095	A>G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1602349420	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602349451	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1602349603	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1602349692	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602349779	TGTA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602349940	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602349955	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602349962	TA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602350003	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602350012	CG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1602350029	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602350059	GGCC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602350062	->G	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018652	hsa-miR-335-5p	Microarray	18185580
MIRT713553	hsa-miR-4686	HITS-CLIP	19536157
MIRT713554	hsa-miR-4469	HITS-CLIP	19536157
MIRT713552	hsa-miR-7113-3p	HITS-CLIP	19536157
MIRT713551	hsa-miR-4287	HITS-CLIP	19536157
MIRT713550	hsa-miR-4685-3p	HITS-CLIP	19536157
MIRT713549	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT713548	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT713547	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT713546	hsa-miR-942-5p	HITS-CLIP	19536157
MIRT713545	hsa-miR-4763-5p	HITS-CLIP	19536157
MIRT713544	hsa-miR-103a-2-5p	HITS-CLIP	19536157
MIRT713543	hsa-miR-6867-3p	HITS-CLIP	19536157
MIRT713542	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT713541	hsa-miR-5001-3p	HITS-CLIP	19536157
MIRT713540	hsa-miR-6894-3p	HITS-CLIP	19536157
MIRT713539	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT713538	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT657856	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT662901	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT662900	hsa-miR-6784-3p	HITS-CLIP	23824327
MIRT662899	hsa-miR-6862-3p	HITS-CLIP	23824327
MIRT662898	hsa-miR-6802-3p	HITS-CLIP	23824327
MIRT657855	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT657856	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT657855	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT455549	hsa-miR-3173-3p	PAR-CLIP	23592263
MIRT455548	hsa-miR-6891-5p	PAR-CLIP	23592263
MIRT455546	hsa-miR-4779	PAR-CLIP	23592263
MIRT455547	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT455545	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT455544	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT455543	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT455542	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT455541	hsa-miR-6085	PAR-CLIP	23592263
MIRT455540	hsa-miR-6813-5p	PAR-CLIP	23592263
MIRT455539	hsa-miR-4685-5p	PAR-CLIP	23592263
MIRT455537	hsa-miR-6837-5p	PAR-CLIP	23592263
MIRT455538	hsa-miR-1915-3p	PAR-CLIP	23592263
MIRT455536	hsa-miR-6764-5p	PAR-CLIP	23592263
MIRT455535	hsa-miR-3184-5p	PAR-CLIP	23592263
MIRT455534	hsa-miR-423-5p	PAR-CLIP	23592263
MIRT455533	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT455532	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT455531	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT455530	hsa-miR-4283	PAR-CLIP	23592263
MIRT455529	hsa-miR-6746-5p	PAR-CLIP	23592263
MIRT445693	hsa-miR-3133	PAR-CLIP	22100165
MIRT445692	hsa-miR-4511	PAR-CLIP	22100165
MIRT445691	hsa-miR-4768-3p	PAR-CLIP	22100165
MIRT445690	hsa-miR-873-5p	PAR-CLIP	22100165
MIRT445689	hsa-miR-1286	PAR-CLIP	22100165
MIRT445688	hsa-miR-4722-5p	PAR-CLIP	22100165
MIRT445687	hsa-miR-6511b-5p	PAR-CLIP	22100165
MIRT445686	hsa-miR-6811-5p	PAR-CLIP	22100165
MIRT445693	hsa-miR-3133	PAR-CLIP	22100165
MIRT445692	hsa-miR-4511	PAR-CLIP	22100165
MIRT445691	hsa-miR-4768-3p	PAR-CLIP	22100165
MIRT445690	hsa-miR-873-5p	PAR-CLIP	22100165
MIRT445689	hsa-miR-1286	PAR-CLIP	22100165
MIRT445688	hsa-miR-4722-5p	PAR-CLIP	22100165
MIRT445687	hsa-miR-6511b-5p	PAR-CLIP	22100165
MIRT445686	hsa-miR-6811-5p	PAR-CLIP	22100165
MIRT713553	hsa-miR-4686	HITS-CLIP	19536157
MIRT713554	hsa-miR-4469	HITS-CLIP	19536157
MIRT713552	hsa-miR-7113-3p	HITS-CLIP	19536157
MIRT713551	hsa-miR-4287	HITS-CLIP	19536157
MIRT713550	hsa-miR-4685-3p	HITS-CLIP	19536157
MIRT713549	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT713548	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT713547	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT713546	hsa-miR-942-5p	HITS-CLIP	19536157
MIRT713545	hsa-miR-4763-5p	HITS-CLIP	19536157
MIRT713544	hsa-miR-103a-2-5p	HITS-CLIP	19536157
MIRT713543	hsa-miR-6867-3p	HITS-CLIP	19536157
MIRT713542	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT713541	hsa-miR-5001-3p	HITS-CLIP	19536157
MIRT713540	hsa-miR-6894-3p	HITS-CLIP	19536157
MIRT713539	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT713538	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT657856	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT662901	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT662900	hsa-miR-6784-3p	HITS-CLIP	23824327
MIRT662899	hsa-miR-6862-3p	HITS-CLIP	23824327
MIRT662898	hsa-miR-6802-3p	HITS-CLIP	23824327
MIRT657855	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT657856	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT657855	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT455549	hsa-miR-3173-3p	PAR-CLIP	23592263
MIRT455548	hsa-miR-6891-5p	PAR-CLIP	23592263
MIRT455546	hsa-miR-4779	PAR-CLIP	23592263
MIRT455547	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT455545	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT455544	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT455543	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT455542	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT455541	hsa-miR-6085	PAR-CLIP	23592263
MIRT455540	hsa-miR-6813-5p	PAR-CLIP	23592263
MIRT455539	hsa-miR-4685-5p	PAR-CLIP	23592263
MIRT455537	hsa-miR-6837-5p	PAR-CLIP	23592263
MIRT455538	hsa-miR-1915-3p	PAR-CLIP	23592263
MIRT455536	hsa-miR-6764-5p	PAR-CLIP	23592263
MIRT455535	hsa-miR-3184-5p	PAR-CLIP	23592263
MIRT455534	hsa-miR-423-5p	PAR-CLIP	23592263
MIRT455533	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT455532	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT455531	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT455530	hsa-miR-4283	PAR-CLIP	23592263
MIRT455529	hsa-miR-6746-5p	PAR-CLIP	23592263
MIRT445693	hsa-miR-3133	PAR-CLIP	22100165
MIRT445692	hsa-miR-4511	PAR-CLIP	22100165
MIRT445691	hsa-miR-4768-3p	PAR-CLIP	22100165
MIRT445690	hsa-miR-873-5p	PAR-CLIP	22100165
MIRT445689	hsa-miR-1286	PAR-CLIP	22100165
MIRT445688	hsa-miR-4722-5p	PAR-CLIP	22100165
MIRT445687	hsa-miR-6511b-5p	PAR-CLIP	22100165
MIRT445686	hsa-miR-6811-5p	PAR-CLIP	22100165
MIRT445693	hsa-miR-3133	PAR-CLIP	22100165
MIRT445692	hsa-miR-4511	PAR-CLIP	22100165
MIRT445691	hsa-miR-4768-3p	PAR-CLIP	22100165
MIRT445690	hsa-miR-873-5p	PAR-CLIP	22100165
MIRT445689	hsa-miR-1286	PAR-CLIP	22100165
MIRT445688	hsa-miR-4722-5p	PAR-CLIP	22100165
MIRT445687	hsa-miR-6511b-5p	PAR-CLIP	22100165
MIRT445686	hsa-miR-6811-5p	PAR-CLIP	22100165
MIRT1019742	hsa-miR-194	CLIP-seq
MIRT1019743	hsa-miR-3143	CLIP-seq
MIRT1019744	hsa-miR-4269	CLIP-seq
MIRT1019745	hsa-miR-4514	CLIP-seq
MIRT1019746	hsa-miR-4692	CLIP-seq
MIRT1019747	hsa-miR-4742-5p	CLIP-seq
MIRT1019748	hsa-miR-543	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
EGR2	Unknown	11493034
SOX10	Activation	15470753
SOX10	Repression	16494873;21918739
SOX10	Unknown	11734543

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005243	Function	Gap junction channel activity	IBA
GO:0005243	Function	Gap junction channel activity	TAS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005921	Component	Gap junction	IEA
GO:0005922	Component	Connexin complex	IBA
GO:0005922	Component	Connexin complex	IEA
GO:0005922	Component	Connexin complex	TAS	2875078
GO:0007154	Process	Cell communication	IEA
GO:0007267	Process	Cell-cell signaling	IBA
GO:0007267	Process	Cell-cell signaling	TAS	8266101
GO:0007399	Process	Nervous system development	TAS	8266101
GO:0016020	Component	Membrane	IEA
GO:0016264	Process	Gap junction assembly	TAS
GO:0042802	Function	Identical protein binding	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070161	Component	Anchoring junction	IEA

Other IDs

• MIM: 304040
• HGNC: 4283
• e!Ensembl: ENSG00000169562

Protein

• UniProt ID: P08034
• Protein name: Gap junction beta-1 protein (Connexin-32) (Cx32) (GAP junction 28 kDa liver protein)
• Protein function: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
• PDB: 5KK9, 7ZXM, 7ZXN, 7ZXO, 7ZXP, 7ZXQ, 7ZXT, 8QJF, 8QJH, 8QK6, 8QKI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00029	Connexin	2 → 214	Connexin	Family

• Sequence:

  MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGC
  NSVCYDQFFPISHVRLWSLQLILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEV
  KRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGYAMVRLVKCDVYPCPNTVDCF
  VSRPTEKTVFTVFMLAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLS
  PEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC

• Sequence length: 283

Pathways

Reactome:

Oligomerization of connexins into connexons
Gap junction assembly

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
Charcot-Marie-Tooth disease	Likely pathogenic; Pathogenic	rs786204095, rs786204123, rs863224613, rs779696968, rs863224471, rs863224971, rs863224972, rs116840821, rs879254012, rs879253935, rs879254096, rs756000896, rs879253909, rs879254099, rs104894812, rs104894821, rs104894823, rs104894824, rs116840818, rs116840819, rs116840815, rs116840822, rs1060501002, rs1060500998, rs1064794244, rs1131691322, rs1555937009, rs1555937020, rs1555937122, rs1555937197, rs1555937233, rs1555937270, rs1555937180, rs1555936999, rs1555937135, rs1555937194, rs1555937218, rs587777876, rs1555937143, rs1555937168, rs1555936989, rs1555937082, rs1241595912, rs1569215351, rs771022595, rs1569215061, rs1569215346, rs1555937166, rs1569215443, rs1602348530, rs1602348610, rs1602348650, rs1602348658, rs104894817, rs1602348737, rs863224612, rs1602348786, rs1602348794, rs1602348801, rs1602348820, rs1602348897, rs1602348907, rs1602348917, rs1602348981, rs876661143, rs1602349017, rs1602349021, rs1602349066, rs1602349087, rs1602349095, rs1602349112, rs1602349131, rs1602349137, rs1602349248, rs1602349264, rs1602349293, rs1602349302, rs1602349369, rs1602349383, rs1602349451, rs104894811, rs1602349535, rs1602349572, rs1602349603, rs1602349628, rs1602349655, rs1555937259, rs1602349716, rs1602349730, rs1064795540, rs1602349940, rs1057518946	RCV000789271 RCV000789950 RCV000789860 RCV000790300 RCV000789836 RCV001276387 RCV001276388 RCV000789222 RCV000789918 RCV000789296 RCV000789171 RCV000789853 RCV000789192 RCV000789850 RCV000789810 RCV000789817 RCV000789235 RCV000789872 RCV000789665 RCV000789309 RCV000789234 RCV000789199 RCV000789812 RCV000789225 RCV000789955 RCV000789819 RCV000789185 RCV000512762 RCV000789221 RCV000789233 RCV000789189 RCV000789837 RCV000789848 RCV000789935 RCV000789811 RCV000789859 RCV000789250 RCV000789937 RCV000789319 RCV000789256 RCV000789280 RCV000789800 RCV000789055 RCV000789839 RCV000789941 RCV000789922 RCV000789244 RCV000789813 RCV000789284 RCV000789956 RCV000789206 RCV000789875 RCV000789834 RCV000789252 RCV000789282 RCV000789889 RCV000789237 RCV000789265 RCV000789808 RCV000789795 RCV000789851 RCV000789920 RCV000789867 RCV000789801 RCV000789315 RCV000789180 RCV000789273 RCV000789876 RCV000789184 RCV000789901 RCV000789842 RCV000789828 RCV000789804 RCV000789300 RCV000789948 RCV000789868 RCV000789169 RCV000789283 RCV000789259 RCV000789931 RCV000789276 RCV000789882 RCV000789805 RCV000789217 RCV000789306 RCV000789220 RCV000790237 RCV000789929 RCV000789833 RCV000789892 RCV000789224 RCV000789909 RCV000789822 RCV000789861 RCV000789823 RCV000789213 RCV001173557 RCV001173558	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease X-linked dominant 1	Pathogenic; Likely pathogenic	rs2092543877, rs483352926, rs2147946493, rs11551260, rs2147946914, rs587777877, rs587777878, rs587777876, rs2147946047, rs1602349468, rs2092541958, rs863224974, rs786204123, rs879254098, rs756928158, rs863224613, rs779696968, rs863224471, rs1555937012, rs863224971, rs863224972, rs863224973, rs139643362, rs864622215, rs116840821, rs2519797719, rs2519797709, rs2519797700, rs769450739, rs1555937019, rs1270518681, rs1602348517, rs1602349050, rs751230398, rs879254047, rs879254096, rs879253909, rs879254099, rs104894810, rs104894811, rs104894812, rs104894813, rs104894814, rs104894817, rs104894818, rs104894819, rs104894820, rs104894821, rs104894822, rs104894823, rs104894824, rs2147944334, rs104894826, rs2519798469, rs1602349388, rs116840818, rs116840819, rs116840815, rs116840822, rs1057520778, rs1060501002, rs1555937020, rs1555937233, rs1555937180, rs1555937135, rs1555937194, rs1555937143, rs1555937168, rs1555936989, rs1555937082, rs1241595912, rs1569215351, rs1569215346, rs1555937166, rs1569215443, rs1602348610, rs1602348737, rs1602348794, rs1602348801, rs879253935, rs1602348820, rs1602348907, rs1602348981, rs1602349087, rs1602349095, rs1602349248, rs1602349293, rs1602349302, rs1602349369, rs1602349383, rs1602349535, rs1602349572, rs1602349603, rs1602349628, rs1555937259, rs1602349716, rs1602349940, rs1602348782, rs1602349420, rs1602349955, rs1262031967, rs1057518946	RCV001329667 RCV000083303 RCV001799555 RCV003336450 RCV003447328 RCV000143793 RCV000143794 RCV000143795 RCV002250015 RCV002250016 RCV002288368 RCV002289183 RCV000714875 RCV004556862 RCV001249761 RCV005252809 RCV003633486 RCV000754745 RCV005050678 RCV000201088 RCV003447516 RCV000201183 RCV000201004 RCV000201175 RCV002466254 RCV003447126 RCV003129583 RCV003129584 RCV003129585 RCV003129586 RCV003129587 RCV003129588 RCV003129589 RCV003152859 RCV000235072 RCV001249760 RCV003447129 RCV002272191 RCV003388834 RCV000011176 RCV000011177 RCV000011178 RCV000011179 RCV000011180 RCV000011181 RCV000011182 RCV000011183 RCV000011184 RCV000011186 RCV000011187 RCV000011189 RCV000011191 RCV000011194 RCV000011196 RCV003320013 RCV003388962 RCV003445450 RCV000020171 RCV000020172 RCV000020174 RCV000020175 RCV000020176 RCV001782902 RCV000853377 RCV000763633 RCV002248750 RCV003993995 RCV000011193 RCV004787898 RCV003447150 RCV000990864 RCV003447153 RCV003447152 RCV002289943 RCV005231278 RCV003447155 RCV002249416 RCV003447160 RCV001353154 RCV003447219 RCV005409740 RCV003447274 RCV002249493 RCV003447278 RCV003517267 RCV003447273 RCV003447201 RCV005251222 RCV000990863 RCV003447200 RCV003447214 RCV003447296 RCV002470980 RCV003447285 RCV001706707 RCV001353158 RCV004669115 RCV000990866 RCV003985824 RCV002290041 RCV003387929 RCV002290040 RCV003447208 RCV000984885 RCV000990865 RCV000995551 RCV001310077 RCV006257328 RCV001253189	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth Neuropathy X	Pathogenic; Likely pathogenic	rs2092543877, rs1602348519, rs2147946234, rs2147945690, rs2147945283, rs2147946194, rs11551260, rs2147945660, rs2147946105, rs2147946319, rs2147946914, rs2147945853, rs587777877, rs587777878, rs587777876, rs786204095, rs786204123, rs2519797482, rs1602348524, rs756928158, rs1602349322, rs2519797987, rs2147945443, rs1602348895, rs863224472, rs863224613, rs779696968, rs863224471, rs1555937012, rs863224971, rs863224974, rs863224972, rs863224973, rs139643362, rs2519798825, rs2519797920, rs864622215, rs876661252, rs876661269, rs1602348517, rs879254047, rs879254012, rs879253935, rs879254096, rs756000896, rs879253946, rs879254098, rs879253909, rs879254099, rs104894810, rs104894811, rs104894812, rs104894814, rs104894818, rs104894819, rs104894821, rs104894822, rs104894824, rs2519798541, rs2519798270, rs2519798675, rs2519799076, rs2519797837, rs1602348932, rs2519798559, rs2519798088, rs2519798509, rs2519798386, rs1555937063, rs2519798339, rs2519799110, rs2519797436, rs116840818, rs116840819, rs116840815, rs116840821, rs1057520778, rs1060501002, rs1060500998, rs1555937150, rs1060501004, rs1060501000, rs1064794244, rs1131691322, rs1555937020, rs1555937122, rs1555937197, rs1555937233, rs1555937270, rs1555936999, rs1555937084, rs1555937135, rs1555937194, rs1555937218, rs1555937015, rs1555937223, rs1555937168, rs1555936989, rs1555937082, rs1241595912, rs1569215025, rs1569215351, rs771022595, rs1569215061, rs1569215346, rs1569214985, rs1555937166, rs1602348650, rs1602348658, rs104894817, rs863224612, rs1602348786, rs1602348794, rs1602348897, rs1602348907, rs1602348917, rs1602348981, rs876661143, rs1602349017, rs1602349066, rs1602349087, rs1602349112, rs1602349131, rs1602349137, rs1602349248, rs1602349293, rs1602349383, rs1602349451, rs1602349603, rs1602349655, rs1602349730, rs1064795540, rs1602349940, rs1602348726, rs1602349029, rs1602349341, rs1602350012, rs1262031967, rs2092542190, rs2092543211, rs1602349045, rs757808220, rs2092546039, rs2092542575, rs1602349166, rs2092545291, rs2092545247, rs2092546021, rs2092544789	RCV005094410 RCV001388320 RCV001389524 RCV001931693 RCV001988871 RCV001870424 RCV001863851 RCV001879384 RCV001948014 RCV001906781 RCV001951516 RCV001979845 RCV001042343 RCV002512552 RCV000460808 RCV000168011 RCV000168077 RCV003050621 RCV003064736 RCV000461635 RCV002824268 RCV002843908 RCV002858558 RCV002881128 RCV000199286 RCV000200595 RCV000200289 RCV000197033 RCV002979199 RCV000228634 RCV000234336 RCV000691748 RCV001044069 RCV000793229 RCV003035711 RCV003059216 RCV000205076 RCV000654849 RCV000471605 RCV003581890 RCV000470682 RCV000793260 RCV001068519 RCV001388434 RCV001854850 RCV001234751 RCV000822814 RCV000804182 RCV000688999 RCV000474456 RCV001053029 RCV000545060 RCV000466155 RCV000463876 RCV001245963 RCV000168221 RCV000537008 RCV001851787 RCV003582224 RCV003581952 RCV003581953 RCV003582421 RCV003581444 RCV003581476 RCV003582925 RCV003582085 RCV003582049 RCV003741553 RCV003742107 RCV003742128 RCV003742167 RCV003742259 RCV001064548 RCV000654844 RCV000167902 RCV000654837 RCV001057812 RCV000475257 RCV000467465 RCV000476759 RCV000456635 RCV000468413 RCV000809132 RCV000704995 RCV000796941 RCV000552811 RCV000544254 RCV000654852 RCV000805747 RCV000552022 RCV000549070 RCV000541816 RCV000529489 RCV000559484 RCV000547989 RCV000535675 RCV000537790 RCV001855312 RCV000654851 RCV000654836 RCV000654841 RCV000705914 RCV000691854 RCV000701205 RCV000684965 RCV000688157 RCV000685646 RCV000698825 RCV001056787 RCV001370664 RCV001061206 RCV001856232 RCV001040086 RCV000799767 RCV003581722 RCV001065214 RCV001388385 RCV002536914 RCV000819010 RCV001869217 RCV001873223 RCV003581724 RCV001377073 RCV001869218 RCV002535810 RCV001869228 RCV005092369 RCV005092371 RCV001856241 RCV005092374 RCV003581731 RCV001869215 RCV001070375 RCV000805388 RCV001058334 RCV000808788 RCV000796042 RCV000823732 RCV000819796 RCV001058722 RCV001066555 RCV001043520 RCV001055661 RCV001050378 RCV001039712 RCV001051168 RCV002559664 RCV001220843 RCV001214227 RCV001220122 RCV001217905 RCV001213124 RCV001228242 RCV001248661	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dejerine-Sottas disease	Pathogenic	rs104894826	RCV000011197	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GJB1-related disorder	Pathogenic	rs1060500998	RCV003401459	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hand muscle atrophy	Likely pathogenic	rs2147945859	RCV001824097	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peripheral neuropathy	Likely pathogenic; Pathogenic	rs2147944895, rs2519798879, rs1241595912	RCV001814518 RCV003126286 RCV001814206	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar ataxia	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL PES CAVUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Decreased nerve conduction velocity	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal lower limb muscle weakness	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal muscle weakness	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hammertoe	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPES I-IV	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC NEUROPATHY OF INFANCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroneal muscle atrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PERONEAL MUSCULAR ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pes cavus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROUSSY-LEVY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensory neuropathy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SPINOCEREBELLAR ATAXIA, X-LINKED 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 1	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED PROGRESSIVE CEREBELLAR ATAXIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	12118378, 17016607, 21082351		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	17016607, 17569045		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	CTD_human_DG	16926031		★☆☆☆☆ Found in Text Mining only
Adenoma, Basal Cell	Adenoma	CTD_human_DG	16926031		★☆☆☆☆ Found in Text Mining only
Adenoma, Microcystic	Adenoma	CTD_human_DG	16926031		★☆☆☆☆ Found in Text Mining only
Adenoma, Monomorphic	Adenoma	CTD_human_DG	16926031		★☆☆☆☆ Found in Text Mining only
Adenoma, Trabecular	Adenoma	CTD_human_DG	16926031		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	16401743		★☆☆☆☆ Found in Text Mining only
Adrenomyeloneuropathy	Adrenomyeloneuropathy	BEFREE	16401743		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	15704143		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	23773993	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	23773993		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	19794823	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25383624		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32918981	Associate	★☆☆☆☆ Found in Text Mining only
Broca Aphasia	Broca Aphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23351380, 25206281	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	2173931		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	11833073, 12717835, 15633210, 34830068	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	15334670	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17569045, 9659581		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	15699574	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30664215, 31322234		★☆☆☆☆ Found in Text Mining only
Central nervous system demyelination	Central Nervous System Demyelination	BEFREE	25524707		★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	28071741, 28469099, 39232641	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	28492539, 28901517, 28902345		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	28492539, 28901517, 28902345		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	10071100, 10220155, 10541586, 10586262, 10587015, 10646523, 10737979, 10767631, 10891594, 10923043, 10931843, 10938190, 11271367, 11295246, 11325342, 11404117, 11499640, 11562788, 11571214, 11734543, 11835375, 11891346, 12111842, 12207932, 12477701, 12497641, 12614935, 12707076, 14607795, 14680548, 14960772, 15006706, 15241803, 15470753, 15703409, 15947997, 16373087, 16442804, 16476939, 16775370, 16775375, 17159110, 17200131, 17502546, 18717720, 18949782, 19259128, 19335535, 19691535, 20039784, 20472869, 20591826, 20607661, 20730878, 21291455, 21404297, 21871435, 21918739, 22771394, 23209285, 23279425, 23827825, 23838279, 23912496, 24170412, 24724718, 24768312, 24863494, 25326399, 25370202, 25449862, 25595958, 26362287, 27043305, 27098783, 27367520, 27544631, 27804109, 27863451, 28334782, 28364294, 28469099, 28601552, 28677541, 29077882, 29111421, 29153916, 29236290, 29998508, 30042657, 30737405, 30881289, 30896807, 31119804, 31323543, 31760652, 7580242, 7870103, 8004109, 8076700, 8162049, 8737658, 8800924, 8816997, 8862346, 8881991, 8882569, 9018031, 9187667, 9272161, 9361298, 9401007, 9418989, 9466597, 9469571, 9592087, 9633821, 9818870, 9856562		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	LHGDN	11891346, 12362307, 12536289, 12775342, 15470753, 16096811, 17646144, 18379723, 18714809		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth Disease, Axonal, Type 2n	Charcot-Marie-Tooth Disease	BEFREE	30569560		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease, Type Ia (disorder)	Charcot-Marie-Tooth disease	BEFREE	23649551, 9818870		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth disease, X-linked, 1	Charcot-Marie-Tooth disease	UNIPROT_DG	10071100, 10220155, 10234007, 10586284, 10732813, 10737979, 10873293, 10894999, 10923043, 10938190, 11030070, 11140841, 11180613, 11437164, 11438991, 11562788, 11571214, 11723288, 11835375, 11891346, 12185164, 12207932, 12325071, 12402337, 12477701, 12497641, 12536289, 12707076, 14627639, 15241803, 15468313, 15852376, 27234031, 7477983, 7833935, 8004109, 8162049, 8266101, 8628473, 8698335, 8733054, 8737658, 8807343, 8829637, 8889588, 8956046, 8990008, 9018031, 9099841, 9187667, 9272161, 9361298, 9452025, 9452099, 9469569, 9633821, 9818870, 9856562		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, X-linked, 1	Charcot-Marie-Tooth disease	CLINVAR_DG	10093067, 10586261, 10737979, 10873293, 10931843, 11325342, 11437164, 11438991, 11571214, 12402337, 12460545, 12499506, 15006706, 16301507, 17353473, 19259128, 19335535, 23209285, 23827825, 26257172, 26392352, 28283593, 28492532, 28768847, 7580242, 8162049, 8733054, 8737658, 8757034, 8829637, 9018031, 9187667, 9272161, 9364054, 9401007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, X-linked, 1	Charcot-Marie-Tooth disease	BEFREE	10102421, 10639608, 10848620, 10931843, 11140841, 11266688, 11271367, 11393532, 11571214, 11734543, 11891346, 12111842, 12185164, 12325071, 12460545, 14680548, 15006706, 16442804, 20039784, 20443038, 21282593, 21291455, 21607969, 25595958, 25771809, 25947624, 26385972, 27544631, 28448691, 28677541, 28768847, 29077882, 29236290, 29998508, 30196252, 7912286, 8004109, 8162049, 8698335, 8881991, 9272161, 9354338, 9364054, 9401007, 9418989, 9541114, 9566397, 9592087, 9760211, 9818870		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, X-linked, 1	Charcot-Marie-Tooth disease	GENOMICS_ENGLAND_DG	24357685, 26385972, 27564080, 8266101		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, X-linked, 1	Charcot-Marie-Tooth disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	18264126		★☆☆☆☆ Found in Text Mining only
Chronic progressive external ophthalmoplegia	Progressive External Ophthalmoplegia	BEFREE	16715201		★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	BEFREE	24119489		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	18264126		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	12118378		★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	BEFREE	29174527		★☆☆☆☆ Found in Text Mining only
Congenital pes cavus	Congenital Pes Cavus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	12690227, 15142671, 15699574, 15792837, 17015938, 17565422, 18058801, 18264126, 20510207, 24335094		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	18264126		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	24119489		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	12185164	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	11523566, 9187667, 9488160		★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	UNIPROT_DG	15947997		★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	16481890, 17603245, 24053775	Associate	★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	30042657		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	31465542		★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal lower limb amyotrophy	Distal lower limb amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal upper limb amyotrophy	Distal upper limb amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	LHGDN	18714809		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	25438677	Inhibit	★☆☆☆☆ Found in Text Mining only
Encephalomyelitis Acute Disseminated	Acute disseminated encephalomyelitis	Pubtator	29245364	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	11433394		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial Hyperplasia	BEFREE	11433394		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	35383424	Associate	★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	CTD_human_DG	16926031		★☆☆☆☆ Found in Text Mining only
Gastritis Atrophic	Gastritis	Pubtator	25206281	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	36931032	Associate	★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome	Guillain-Barre Syndrome	BEFREE	11438177		★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	15719046	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	21254920	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary liability to pressure palsies	Hereditary Liability To Pressure Palsies	BEFREE	10737979, 16481890, 8800924, 9187667		★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory Neuropathies	Hereditary motor and sensory neuropathy	BEFREE	20008656, 20039784, 23384994, 30042657, 31323543, 7541290, 9541114		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Motor and Sensory Neuropathy Type I	Hereditary motor and sensory neuropathy	BEFREE	10648431, 10975746, 11437164, 9856562		★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	BEFREE	15111691		★☆☆☆☆ Found in Text Mining only
Hereditary Motor Neuronopathy	Distal hereditary motor neuronopathy	BEFREE	23931818		★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	Pubtator	20491857	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Motor Neuropathy	Hereditary sensory and motor neuropathy	Pubtator	34169998	Associate	★☆☆☆☆ Found in Text Mining only
Hypokalemic periodic paralysis	Hypokalemic Periodic Paralysis	BEFREE	11723288		★☆☆☆☆ Found in Text Mining only
Hypokalemic periodic paralysis type 1	Hypokalemic Periodic Paralysis	BEFREE	11723288		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	23279342, 25101702		★☆☆☆☆ Found in Text Mining only
Inherited Peripheral Neuropathy	Inherited Peripheral Neuropathy	BEFREE	11325342, 11891346, 14627639, 28545922, 30268116		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	25206281	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	29728112, 29790387		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	15699574	Associate	★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	21685710	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	34539009	Associate	★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	25524707		★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	14516671		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11576997, 11833073, 12849984, 15334670, 15633210, 20209499, 2154741, 25426556, 26935255, 28260043, 28498415, 28968929, 30947731, 31213923		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	12717835, 15334670		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	17978847		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	40024757	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	11576997, 12849984, 2154741, 2173931, 26935255, 8262683, 8824538		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver neoplasms	Liver neoplasms	CTD_human_DG	2559087		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	15492231, 16926031		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	LHGDN	17569045		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32918981	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	11433394		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	15792837		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	2559087		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	15492231, 16926031		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17569045		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	30664215, 31322234		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	21388975		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12205082		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23351380		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17015938, 17275998, 20209499, 28498415		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	28492539, 28901517, 28902345		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	12118378		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	23524428	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	12477701, 15852376, 17353473, 21282593, 21692908, 22771394, 23773993, 26385972, 27844031, 28097225		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	22484441, 25101702		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	15704143		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	19794823	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15142671, 15699574, 15782139, 15792837, 16596211, 1660148, 17016607, 17569045, 18264126, 21082351, 25426556, 28492539, 30947731, 8824538		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	17620124, 20532933, 28071741	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28677541		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	15704143		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	10873293, 10891594, 12207932, 12497641, 12614935, 16373087, 16775375, 17159110, 17353473, 17514737, 19335535, 20039784, 20532933, 23384994, 23827825, 25449862, 31119804, 7580242, 8004109, 8737658, 9469571, 9566397, 9818870		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31152452		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	17259707		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	30664215, 31322234		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	21388975		★☆☆☆☆ Found in Text Mining only
Papillary adenoma	Papillary Adenoma	CTD_human_DG	16926031		★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	18264126		★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	39232641	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30976973		★☆☆☆☆ Found in Text Mining only
Partial Paralysis (Paresis) Vocal Cords	Partial Paralysis Vocal Cords	BEFREE	20942588		★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	BEFREE	12325071, 12707076, 15006706, 15703409, 16051098, 16775370, 16775378, 19369543, 20472869, 22771394, 23279425, 27035961, 29077882, 31760652, 7559122, 9361298		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	10980526, 11309368, 12325071, 12542510, 12609493, 14960772, 15006706, 25771809, 27367520, 27863451, 28071741, 29111421, 29153916, 8881422, 9760211		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	28071741, 31842800, 39639332	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	10980526, 11309368, 12325071, 12542510, 14960772, 15006706, 25771809, 27367520, 27863451, 28071741, 29111421, 29153916, 9760211		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peripheral Neuropathy	Peripheral Neuropathy	LHGDN	12542510		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peroneal muscle atrophy	Peroneal muscle atrophy	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Polyneuropathy	Polyneuropathy	BEFREE	16476939, 20120209		★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progressive distal muscular atrophy	Distal Muscular Atrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Progressive hearing loss stapes fixation	Hearing loss with stapes fixation	Pubtator	27098783	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12205082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	12205082, 25548281, 26087186	Associate	★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	15792837		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	12690227, 15142671, 15699574, 15792837, 17015938, 17565422, 18058801, 18264126, 20510207, 24335094		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	18058801		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	18264126		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	31465542		★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	18264126		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	10102421, 21254920		★☆☆☆☆ Found in Text Mining only
Sensory Disorders	Sensory Disorders	BEFREE	11266688, 12542510		★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	BEFREE	24724718		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sensory neuropathy	Sensory neuropathy	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sensory neuropathy	Sensory neuropathy	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	39232641	Associate	★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	11198505, 15704143		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 11	Spinocerebellar ataxia	Pubtator	23773993	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar tract degeneration	Spinocerebellar Degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	23524428	Associate	★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	30056318		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23351380, 28839434		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	23351380	Inhibit	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	25206281	Associate	★☆☆☆☆ Found in Text Mining only
Tomaculous neuropathy	Hereditary neuropathy with liability to pressure palsies	Pubtator	16481890	Associate	★☆☆☆☆ Found in Text Mining only
Tooth Diseases	Tooth Diseases	BEFREE	11437164		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	21483740	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28492539	Associate	★☆☆☆☆ Found in Text Mining only
X-linked Charcot-Marie-Tooth disease type 1	Charcot-Marie-Tooth Disease, X-Linked	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked Charcot-Marie-Tooth disease type 1	Charcot-Marie-Tooth Disease, X-Linked	BEFREE	24290847, 28448691		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked Charcot-Marie-Tooth disease type 1	Charcot-Marie-Tooth Disease, X-Linked	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked progressive cerebellar ataxia	Cerebellar Ataxia, X-Linked	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations