MPZ (myelin protein zero)

Gene

• Entrez ID: 4359
• Gene name: Myelin protein zero
• Gene symbol: MPZ
• Synonyms (NCBI Gene): CHM, CHN2, CMT1, CMT1B, CMT2I, CMT2J, CMT4E, CMTDI3, CMTDID, DSS, HMSNIB, MPP, P0
• Chromosome: 1
• Chromosome location: 1q23.3
• Summary: This gene is specifically expressed in Schwann cells of the peripheral nervous system and encodes a type I transmembrane glycoprotein that is a major structural protein of the peripheral myelin sheath. The encoded protein contains a large hydrophobic extr

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121913583	T>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913584	G>A,C,T	Likely-pathogenic, pathogenic, uncertain-significance	Synonymous variant, coding sequence variant, missense variant
rs121913585	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913586	C>G,T	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913587	A>G	Pathogenic	Missense variant, coding sequence variant
rs121913588	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121913589	C>A,G,T	Likely-pathogenic, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs121913590	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913593	G>A	Pathogenic	Stop gained, coding sequence variant
rs121913594	T>A,C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs121913595	G>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant
rs121913596	C>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913597	T>A	Pathogenic	Missense variant, coding sequence variant
rs121913598	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913599	G>T	Pathogenic	Missense variant, coding sequence variant
rs121913600	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121913601	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913602	T>A	Pathogenic	Missense variant, coding sequence variant
rs121913603	T>C,G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121913604	C>G	Pathogenic	Missense variant, coding sequence variant
rs121913605	G>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913606	T>A	Pathogenic	Missense variant, coding sequence variant
rs121913608	C>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs121913609	G>C,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs144841836	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs201156403	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs202176679	C>G,T	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs267607241	A>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs267607242	T>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs267607243	C>T	Pathogenic, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs267607244	A>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs267607245	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs267607246	G>C,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs267607247	C>A	Pathogenic, uncertain-significance	Intron variant, missense variant, coding sequence variant
rs281865121	A>C,G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs281865122	A>T	Pathogenic	Missense variant, coding sequence variant
rs281865123	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs281865124	A>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs281865125	T>-	Pathogenic, uncertain-significance	Coding sequence variant, frameshift variant
rs281865126	C>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs281865127	T>C	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs281865128	C>G,T	Pathogenic, uncertain-significance, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs281865129	->A	Pathogenic	Coding sequence variant, frameshift variant
rs281865130	T>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs281865131	C>A	Pathogenic, uncertain-significance	Splice donor variant
rs281865132	G>A	Pathogenic, uncertain-significance	Intron variant, missense variant, coding sequence variant
rs281865133	C>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs371856018	T>C,G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs377495735	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant
rs572010627	A>C,T	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs755446743	TCT>-	Not-provided, conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance	Intron variant, coding sequence variant, inframe deletion
rs760730366	GGGAGCCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs770546306	G>A,C,T	Uncertain-significance, pathogenic	Synonymous variant, missense variant, coding sequence variant
rs786204119	T>C	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs786204215	G>A	Pathogenic	Missense variant, coding sequence variant
rs797044845	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs797044941	C>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs863224449	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs863225025	C>A,G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs863225026	TCTGGGGGAGGGGCG>-	Pathogenic	Splice acceptor variant, coding sequence variant, intron variant
rs864622732	T>A,C	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs876661257	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs876661287	C>A	Pathogenic	Missense variant, coding sequence variant
rs879253858	T>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs879254038	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs879254054	A>C	Pathogenic, uncertain-significance	Splice donor variant
rs879254109	GAG>-	Pathogenic, uncertain-significance	Coding sequence variant, inframe deletion
rs879254297	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1017715903	C>T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained
rs1057518021	C>G,T	Likely-pathogenic, pathogenic	Splice acceptor variant
rs1057518839	A>C	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1060503423	A>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1064795521	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1131691852	C>A	Likely-pathogenic	Coding sequence variant, synonymous variant
rs1182353109	A>-	Pathogenic, uncertain-significance	Frameshift variant, coding sequence variant
rs1407955132	C>A	Likely-pathogenic	Splice donor variant
rs1427063795	T>C	Pathogenic	Initiator codon variant, missense variant, coding sequence variant
rs1553259511	->T	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1553259529	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553259536	T>A	Pathogenic	Splice acceptor variant
rs1553259566	->CTGC	Pathogenic	Frameshift variant, coding sequence variant
rs1553259568	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553259643	TACA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553259647	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1553259648	G>A,C,T	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1553259651	->TCAC	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs1553259656	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1553259662	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1553259663	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1553259683	G>A	Uncertain-significance, pathogenic	Coding sequence variant, stop gained
rs1553259697	->GTCAA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553259703	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553259707	T>C,G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1553259790	G>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1553259792	CAG>-,CAGCAG	Likely-pathogenic, uncertain-significance	Coding sequence variant, inframe deletion, inframe insertion
rs1553260014	C>T	Pathogenic	Splice donor variant
rs1553260017	->CATAGCTGGGGCAGGGGCAGGGGCCCGGAGC	Pathogenic	Initiator codon variant, frameshift variant, 5 prime UTR variant
rs1558153994	G>A	Pathogenic, uncertain-significance	Coding sequence variant, synonymous variant
rs1558154010	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1558154149	C>G,T	Likely-pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs1558154193	C>T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, synonymous variant
rs1558154208	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1558154754	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571817103	CACT>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1571817544	CCT>G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1571817911	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571817966	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571818248	G>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1571819182	A>G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1571819324	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1571819906	G>T	Pathogenic	Coding sequence variant, stop gained
rs1571819946	C>T	Pathogenic	Coding sequence variant, stop gained
rs1571820100	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs1571820401	TGCAAGCAC>-	Pathogenic	Coding sequence variant, intron variant, splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT669027	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT669028	hsa-miR-4308	HITS-CLIP	23824327
MIRT669026	hsa-miR-4292	HITS-CLIP	23824327
MIRT669025	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT669024	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT669023	hsa-miR-1281	HITS-CLIP	23824327
MIRT669022	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT669021	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT669020	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT669019	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT669027	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT669028	hsa-miR-4308	HITS-CLIP	23824327
MIRT669026	hsa-miR-4292	HITS-CLIP	23824327
MIRT669025	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT669024	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT669023	hsa-miR-1281	HITS-CLIP	23824327
MIRT669022	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT669021	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT669020	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT669019	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT2045011	hsa-miR-3120-5p	CLIP-seq
MIRT2045012	hsa-miR-4279	CLIP-seq
MIRT2045013	hsa-miR-4768-5p	CLIP-seq
MIRT2045014	hsa-miR-593	CLIP-seq
MIRT2274199	hsa-miR-342-5p	CLIP-seq
MIRT2274200	hsa-miR-361-3p	CLIP-seq
MIRT2274201	hsa-miR-4286	CLIP-seq
MIRT2274202	hsa-miR-4313	CLIP-seq
MIRT2274203	hsa-miR-4447	CLIP-seq
MIRT2274204	hsa-miR-4472	CLIP-seq
MIRT2274205	hsa-miR-4651	CLIP-seq
MIRT2274206	hsa-miR-4664-5p	CLIP-seq
MIRT2274207	hsa-miR-579	CLIP-seq
MIRT2274208	hsa-miR-608	CLIP-seq
MIRT2274209	hsa-miR-625	CLIP-seq
MIRT2274210	hsa-miR-661	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
EGR2	Unknown	21179557
SOX10	Unknown	21179557

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005198	Function	Structural molecule activity	NAS	7693129
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	18337304
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	7693130
GO:0005886	Component	Plasma membrane	TAS	7506095
GO:0007268	Process	Chemical synaptic transmission	TAS	7693129
GO:0016020	Component	Membrane	IEA
GO:0042552	Process	Myelination	IBA
GO:0042552	Process	Myelination	IMP	10545037
GO:0043209	Component	Myelin sheath	IEA
GO:0045202	Component	Synapse	IEA
GO:0098742	Process	Cell-cell adhesion via plasma-membrane adhesion molecules	IBA
GO:0098742	Process	Cell-cell adhesion via plasma-membrane adhesion molecules	IMP	18337304
GO:0098743	Process	Cell aggregation	IMP	18337304

Other IDs

• MIM: 159440
• HGNC: 7225
• e!Ensembl: ENSG00000158887

Protein

• UniProt ID: P25189
• Protein name: Myelin protein P0 (Myelin peripheral protein) (MPP) (Myelin protein zero)
• Protein function: Is an adhesion molecule necessary for normal myelination in the peripheral nervous system. It mediates adhesion between adjacent myelin wraps and ultimately drives myelin compaction.
• PDB: 3OAI, 8IIA
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07686	V-set	33 → 147	Immunoglobulin V-set domain	Domain
  PF10570	Myelin-PO_C	184 → 248	Myelin-PO cytoplasmic C-term p65 binding region	Domain

• Tissue specificity: TISSUE SPECIFICITY: Found only in peripheral nervous system Schwann cells.
• Sequence:

  MAPGAPSSSPSPILAVLLFSSLVLSPAQAIVVYTDREVHGAVGSRVTLHCSFWSSEWVSD
  DISFTWRYQPEGGRDAISIFHYAKGQPYIDEVGTFKERIQWVGDPRWKDGSIVIHNLDYS
  DNGTFTCDVKNPPDIVGKTSQVTLYVFEKVPTRYGVVLGAVIGGVLGVVLLLLLLFYVVR
  YCWLRRQAALQRRLSAMEKGKLHKPGKDASKRGRQTPVLYAMLDHSRSTKAVSEKKAKGL
  GESRKDKK

• Sequence length: 248

Pathways

KEGG:

Cell adhesion molecules

Reactome:

EGR2 and SOX10-mediated initiation of Schwann cell myelination

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
Autosomal recessive Dejerine-Sottas syndrome	Likely pathogenic; Pathogenic	rs281865125	RCV002277116	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease	Likely pathogenic; Pathogenic	rs786204215, rs786204119, rs121913586, rs281865128, rs797044845, rs863224449, rs770546306, rs864622732, rs879253858, rs879254054, rs879254109, rs760730366, rs121913583, rs121913584, rs121913589, rs121913585, rs121913594, rs121913595, rs121913596, rs121913598, rs121913601, rs1558154193, rs267607243, rs1060503418, rs1060503420, rs572010627, rs1553259760, rs1553259663, rs1553259703, rs1553259662, rs281865123, rs281865124, rs281865125, rs267607247, rs1553259643, rs1553259683, rs1553259790, rs1553259707, rs1017715903, rs1558154149, rs1571818248, rs1182353109, rs1571817146, rs1571817154, rs1571817911, rs1571817966, rs1571818312, rs1571818632, rs1456458087, rs863225025, rs1553259648, rs1571818800, rs1571818819, rs1468741050, rs1571819182, rs573007540, rs1571819890, rs1571819906, rs201720099, rs1571819946, rs1571819964, rs1571820143, rs1571820161, rs1180998665, rs1571820186, rs281865121, rs1427063795, rs1571818339, rs1571820401, rs1670244293, rs1670284480, rs1670257221	RCV001173695 RCV000790119 RCV000789484 RCV000789471 RCV000789423 RCV000789460 RCV000789438 RCV000789432 RCV000789436 RCV000790116 RCV000790083 RCV000790073 RCV000789440 RCV000789441 RCV000790115 RCV001173692 RCV001173697 RCV000789479 RCV000192248 RCV001173698 RCV000790099 RCV001173691 RCV000790070 RCV000790098 RCV000789446 RCV000790084 RCV000789070 RCV000789485 RCV000790082 RCV000790095 RCV000789717 RCV000789483 RCV000789424 RCV000789426 RCV000789496 RCV000789486 RCV000789431 RCV000790074 RCV000789465 RCV000789497 RCV000789442 RCV000789448 RCV001173693 RCV000790075 RCV000789477 RCV000789450 RCV000790108 RCV000789428 RCV000790076 RCV000789468 RCV000790094 RCV000789498 RCV000790110 RCV000789457 RCV000789482 RCV000790100 RCV000789430 RCV000790087 RCV000789473 RCV000790097 RCV000790085 RCV000790088 RCV000789716 RCV000789443 RCV000789715 RCV000790105 RCV000790308 RCV000789464 RCV000790059 RCV000789455 RCV000790065 RCV000789461 RCV000789714 RCV000790056 RCV000790072 RCV001173696 RCV001173694 RCV001173699	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease dominant intermediate D	Likely pathogenic; Pathogenic	rs2526244215, rs121913594, rs121913595, rs121913596, rs121913603, rs281865124, rs281865125, rs1553259643, rs1553259707, rs1558154010, rs1571817146, rs1456458087	RCV003326233 RCV004795414 RCV001262744 RCV000015247 RCV005862719 RCV003335061 RCV001705641 RCV003483698 RCV000664225 RCV000787935 RCV003152732 RCV004796314	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 1B	Likely pathogenic; Pathogenic	rs1553259691, rs2102258343, rs1571818775, rs1553259536, rs121913586, rs281865128, rs797044845, rs863225025, rs371856018, rs879253858, rs879254054, rs879254109, rs760730366, rs1407955132, rs2526243073, rs121913583, rs121913584, rs2102257349, rs121913587, rs121913588, rs121913589, rs121913590, rs121913585, rs121913594, rs121913595, rs121913597, rs121913598, rs121913599, rs121913603, rs1558154193, rs1060503423, rs281865121, rs281865123, rs281865124, rs281865125, rs267607247, rs1553259643, rs1456458087, rs1571819964, rs1571819975, rs1553259649, rs1558154149	RCV002246358 RCV002249103 RCV002250120 RCV002290418 RCV000194294 RCV000193606 RCV000193325 RCV000201196 RCV004760431 RCV000235064 RCV000015261 RCV000015231 RCV005624345 RCV005240733 RCV003482911 RCV000015229 RCV000015230 RCV000015234 RCV000015235 RCV000015236 RCV000015237 RCV000015238 RCV000015239 RCV000015240 RCV000015242 RCV000015245 RCV000190346 RCV000190345 RCV000192587 RCV000015255 RCV000015264 RCV000986450 RCV000033911 RCV000033913 RCV000033914 RCV000033916 RCV000033919 RCV000033921 RCV003483698 RCV004796314 RCV002249496 RCV003230591 RCV005253644 RCV003152749 RCV003224529	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 2I	Pathogenic; Likely pathogenic	rs121913594, rs121913598, rs121913603, rs281865124, rs1553259643, rs1553259707, rs1456458087	RCV004795414 RCV000015249 RCV005862719 RCV003444056 RCV003483698 RCV005409710 RCV004796314	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 2J	Pathogenic; Likely pathogenic	rs2526238696, rs121913594, rs121913595, rs121913597, rs121913603, rs1553259643, rs1558154010, rs1456458087	RCV003327337 RCV004795414 RCV000015244 RCV000015248 RCV005862719 RCV003483698 RCV003152728 RCV004796314	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS	Likely pathogenic; Pathogenic	rs121913601, rs121913602	RCV000015252 RCV000015253	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease, type I	Likely pathogenic; Pathogenic	rs1571818614, rs1670257221, rs1553259691, rs2102257572, rs2102258958, rs2102259979, rs2102260263, rs2102259042, rs2102260015, rs2102257979, rs2102258700, rs2526238723, rs786204215, rs786204119, rs2526239029, rs121913586, rs281865128, rs797044845, rs797044941, rs1415733769, rs2526234318, rs2526236168, rs863224449, rs371856018, rs770546306, rs2526238682, rs864622732, rs879254054, rs879254109, rs760730366, rs1407955132, rs121913583, rs121913584, rs121913585, rs121913587, rs121913588, rs121913589, rs121913590, rs121913594, rs121913595, rs121913596, rs121913597, rs121913598, rs121913599, rs121913601, rs121913603, rs1558154193, rs2526236083, rs2526235908, rs1057518021, rs267607243, rs1060503423, rs1060503418, rs1060503420, rs1553259651, rs1131691852, rs1553259697, rs572010627, rs1553259760, rs1553259663, rs1553259648, rs1553259649, rs1553259703, rs1553259511, rs1553259662, rs281865121, rs281865123, rs281865124, rs281865125, rs267607247, rs1553259566, rs1553259643, rs1553259683, rs1553259790, rs1553259707, rs1017715903, rs1558154644, rs1558153994, rs1558154754, rs1558154010, rs1558154149, rs1571818248, rs1182353109, rs1571817146, rs1571817154, rs1571818632, rs1571818819, rs1468741050, rs1571819182, rs573007540, rs1571819890, rs1571819906, rs201720099, rs1571819964, rs1571820143, rs1180998665, rs1571820186, rs1427063795, rs1571818339, rs1571820100, rs879253858, rs1670264356, rs1670288801, rs1670288858, rs1670263519, rs1670284480, rs1558153783, rs1670258438, rs1558155838, rs1571819375	RCV001349555 RCV001379624 RCV001378760 RCV001390456 RCV001382904 RCV001382906 RCV005094749 RCV001954621 RCV001966876 RCV001989844 RCV001929065 RCV003741319 RCV000168337 RCV000168067 RCV002648217 RCV001053594 RCV000538322 RCV000688094 RCV001852535 RCV002837992 RCV002844038 RCV002871699 RCV000198501 RCV000206430 RCV000464045 RCV003059368 RCV003047364 RCV000204639 RCV005090191 RCV000535237 RCV001390413 RCV003581906 RCV000812845 RCV000704216 RCV000803240 RCV001851867 RCV005089261 RCV000462311 RCV000638160 RCV000548074 RCV000196172 RCV001224917 RCV001385507 RCV000638155 RCV000638171 RCV001070451 RCV000638152 RCV001060346 RCV000546842 RCV000234112 RCV000795131 RCV003740795 RCV003848054 RCV003741178 RCV000813380 RCV000465572 RCV000474970 RCV000477088 RCV000470689 RCV000470371 RCV001042393 RCV001060274 RCV000703449 RCV002525053 RCV000704378 RCV000525895 RCV000554187 RCV000535579 RCV000539811 RCV000525582 RCV001051613 RCV003581567 RCV000693764 RCV001852684 RCV000205003 RCV000700463 RCV000638177 RCV000638153 RCV000638181 RCV000638180 RCV000638154 RCV000638166 RCV000638176 RCV000701835 RCV000690960 RCV000689231 RCV000700482 RCV000701482 RCV000696546 RCV000693325 RCV002532930 RCV001040610 RCV000797748 RCV002535801 RCV003581729 RCV001233191 RCV002535802 RCV001385506 RCV002536917 RCV003581717 RCV000812847 RCV003581727 RCV001869230 RCV001869231 RCV002536919 RCV001856237 RCV003581728 RCV001390412 RCV005092372 RCV001231857 RCV001044115 RCV001377519 RCV001323341 RCV003581726 RCV000818403 RCV000793801 RCV000811587 RCV001068529 RCV001036759 RCV001066303 RCV001048070 RCV001856276 RCV002558758 RCV003581779 RCV001220841 RCV001220495 RCV001215918 RCV001210626 RCV001204567	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Decreased nerve conduction velocity	Likely pathogenic; Pathogenic	rs121913589	RCV000415463	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dejerine-Sottas disease	Pathogenic; Likely pathogenic	rs121913585, rs121913586, rs2526235696, rs1553259656, rs1553259568, rs281865121, rs1553259566, rs1558153994, rs797044941, rs1571819975	RCV000789439 RCV000032123 RCV003985980 RCV000790057 RCV000578395 RCV000789434 RCV005253016 RCV000789490 RCV000789474 RCV000789445	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT	Pathogenic	rs121913585, rs121913586	RCV000015232 RCV000015233	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal hereditary motor neuropathy type 2	Pathogenic	rs121913595	RCV002245981	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal lower limb amyotrophy	Likely pathogenic; Pathogenic	rs121913589	RCV000415463	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal muscle weakness	Likely pathogenic; Pathogenic	rs121913589	RCV000415463	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EMG: neuropathic changes	Likely pathogenic	rs1057518839	RCV000414872	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary neuropathy or pain disorder	Likely pathogenic; Pathogenic	rs121913601	RCV005865182	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs1571818248	RCV000850194	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Limb muscle weakness	Likely pathogenic	rs1057518839	RCV000414872	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Motor neuron disease	Likely pathogenic	rs2102260097	RCV001795878	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MPZ-related disorder	Likely pathogenic; Pathogenic	rs371856018, rs121913587, rs121913589, rs121913601, rs121913603, rs1553259643, rs1558154149	RCV004689674 RCV005867759 RCV004528112 RCV005867760 RCV004528113 RCV004533201 RCV004533337 RCV002469277 RCV003317367	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuropathy, congenital hypomyelinating, 2	Pathogenic	rs121913590, rs121913593, rs121913603, rs121913595, rs1553259568	RCV005410885 RCV000015241 RCV005862719 RCV000015260 RCV001775133	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peripheral neuropathy	Likely pathogenic	rs2102260263, rs1670228122	RCV001814362 RCV001541897	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pes cavus	Likely pathogenic; Pathogenic	rs121913589	RCV000415463	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
	Pathogenic; Likely pathogenic	rs121913599, rs1057518839, rs2526237995	RCV000015250 RCV001196260 RCV001197014	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensorimotor neuropathy	Likely pathogenic	rs1057518839	RCV000415393	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensory neuropathy	Likely pathogenic; Pathogenic	rs121913589	RCV000415463	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tremor	Likely pathogenic	rs1057518839	RCV000414872	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2I	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2J	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE D	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE WITH NEUROPATHIC PAIN	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE TYPE 3	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease type 4E	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE IB	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth, Intermediate	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypomyelinating neuropathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL PES CAVUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEJERINE-SOTTAS SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL HEREDITARY MOTOR NEUROPATHY, TYPE II	—	Disgenet	★★☆☆☆ 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 TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPES I-IV	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary motor neuron disease	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HEREDITARY SENSORY AND MOTOR NEUROPATHY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALGESIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC NEUROPATHY OF INFANCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERONEAL MUSCULAR ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROUSSY-LEVY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tip-toe gait	no classifications from unflagged records; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	29848698		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	26588861, 30665389		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	31122284		★☆☆☆☆ Found in Text Mining only
Adrenal Hyperplasia Congenital	Congenital adrenal hyperplasia	Pubtator	36583008	Associate	★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	11231025		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	19054061		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	26830138		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	11112514		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	20008901		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	31649130		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	33082300	Associate	★☆☆☆☆ Found in Text Mining only
Aplasia of muscle	Aplasia Of Muscle	BEFREE	10716658		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	31110552		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	12845552	Associate	★☆☆☆☆ Found in Text Mining only
Auditory neuropathy	Auditory Neuropathy	BEFREE	12805115, 17765268		★☆☆☆☆ Found in Text Mining only
Auditory neuropathy	Auditory neuropathy	Pubtator	12805115, 17765268	Associate	★☆☆☆☆ Found in Text Mining only
Auditory neuropathy spectrum disorder	Auditory neuropathy	BEFREE	12805115, 17765268		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29593597		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	22490868, 31594855		★☆☆☆☆ Found in Text Mining only
Autonomic Nervous System Diseases	Autonomic nervous system disease	Pubtator	26234237	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant Charcot-Marie-Tooth disease type 2I	Charcot-Marie-Tooth Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant Charcot-Marie-Tooth disease type 2J	Charcot-Marie-Tooth Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D	Charcot-Marie-Tooth Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	29439531		★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	15377707	Associate	★☆☆☆☆ Found in Text Mining only
Bilateral Vestibulopathy	Bilateral vestibulopathy	Pubtator	11080236	Associate	★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	24358126	Associate	★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain Infarction	BEFREE	28095924		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29554092, 31141992, 31710991		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	27778345		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28230863		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	18520037	Inhibit	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29796607, 31543086		★☆☆☆☆ Found in Text Mining only
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome	BEFREE	19882637		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28095924, 28099557, 30827087, 31649130, 31824250		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	10071056, 10219749, 10319895, 10329755, 10502832, 10541586, 10586262, 10716658, 10737979, 10923043, 11080237, 11140841, 11182278, 11231025, 11345007, 11438991, 11489280, 11801400, 11835375, 11898586, 11935267, 12030326, 12402337, 12477701, 12497641, 12901697, 12901701, 12911457, 12940837, 12948789, 1341967, 1407588, 14638973, 14733962, 14742601, 14871449, 15036333, 15094849, 15148307, 15241803, 15261606, 15261887, 15377707, 15535039, 15549395, 15716547, 15729519, 16198109, 16543539, 16775366, 16775374, 16987171, 17052987, 17309650, 1733853, 17437620, 17765268, 17940173, 18209201, 18318003, 18563718, 18579801, 19221294, 19259128, 19293842, 19344920, 19809938, 19882637, 19893324, 20456450, 20461396, 20482598, 20537790, 20544920, 20556410, 21107784, 21256749, 21277678, 21503568, 21940171, 22222859, 22275255, 22577229, 23840650, 24028194, 24819634, 25091364, 25429913, 26135405, 26362287, 26406915, 27043305, 27584852, 27614573, 27862672, 28214652, 28286897, 28364294, 28704293, 2895983, 29034895, 29136549, 2915802, 29336362, 30373780, 30677751, 30920665, 31059078, 31769568, 7504284, 7804455, 7849745, 8033938, 8105684, 8128981, 8135298, 8215977, 8255457, 8406488, 8413376, 8800924, 8816708, 8862346, 8871588, 8881991, 9032649, 9109869, 9187667, 9418989, 9455987, 9537424, 9633821, 9678704		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	LHGDN	15326256, 16279991, 16488608, 17602703, 18663734		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	CLINVAR_DG	25614874		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 1B	Charcot-Marie-Tooth Disease	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Charcot-Marie-Tooth disease	ORPHANET_DG	10406984		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Charcot-Marie-Tooth disease	UNIPROT_DG	10406984		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Charcot-Marie-Tooth disease	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Charcot-Marie-Tooth disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Charcot-Marie-Tooth disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, Type 2I	Charcot-Marie-Tooth disease	UNIPROT_DG	11835375, 12477701, 14638973, 15241803, 9595994		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, Type 2I	Charcot-Marie-Tooth disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, Type 2I	Charcot-Marie-Tooth disease	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, Type 2I	Charcot-Marie-Tooth disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, Type 2J	Charcot-Marie-Tooth disease	UNIPROT_DG	10071056, 11080237, 15326256, 16775239		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, Type 2J	Charcot-Marie-Tooth disease	BEFREE	19629567		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, Type 2J	Charcot-Marie-Tooth disease	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, Type 2J	Charcot-Marie-Tooth disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, Type 2J	Charcot-Marie-Tooth disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth Disease, Type Ia (disorder)	Charcot-Marie-Tooth disease	BEFREE	10489052, 11325886, 7515304		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease, Type Ia (disorder)	Charcot-Marie-Tooth disease	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease, Type Ib	Charcot-Marie-Tooth disease	CLINVAR_DG	10093067, 10475757, 10737979, 10965800, 11437164, 11438991, 11835375, 12477701, 12497641, 14711881, 16844954, 17172621, 17602703, 18337304, 18422810, 19293842, 20215982, 20461396, 21840889, 22689911, 23250879, 24053775, 24444136, 25614874, 25694466, 26257172, 7527371, 7688964, 7693129, 7694726, 8644725, 8664899, 8797476, 8816708, 8990016, 9168174, 9187667, 9633821		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth Disease, Type Ib	Charcot-Marie-Tooth disease	UNIPROT_DG	10214757, 10545037, 10737979, 10965800, 11437164, 11438991, 11445635, 11835375, 12207932, 12221176, 12402337, 12477701, 12497641, 12707985, 12845552, 14711881, 15036333, 16488608, 18337304, 7504284, 7505151, 7527371, 7530774, 7550231, 7688964, 7693129, 7693130, 7694726, 8664899, 8797476, 8816708, 8835320, 8844219, 8990016, 9187667, 9217235, 9452091, 9452099, 9633821		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth Disease, Type Ib	Charcot-Marie-Tooth disease	BEFREE	10764043, 10965800, 11701152, 12450416, 12845552, 12940837, 15170620, 16414078, 16856127, 17143884, 17765268, 18663734, 19906531, 21503568, 21504504, 21940171, 22018721, 23250879, 23811036, 26310628, 27344971, 29034895, 29610440, 29687021, 30785048, 7503936, 7504284, 7515304, 7550231, 7693130, 8664899, 8881991, 9168174		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth Disease, Type Ib	Charcot-Marie-Tooth disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth Disease, Type Ib	Charcot-Marie-Tooth disease	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, X-linked, 1	Charcot-Marie-Tooth disease	BEFREE	10219749, 10716658, 11345007, 7849745		★☆☆☆☆ Found in Text Mining only
Chediak-Higashi Syndrome	Chediak-Higashi Syndrome	BEFREE	30827087		★☆☆☆☆ Found in Text Mining only
Chorioretinal atrophy	Chorioretinal atrophy	BEFREE	31181178		★☆☆☆☆ Found in Text Mining only
Chorioretinal atrophy	Chorioretinal atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chorioretinal atrophy	Chorioretinal atrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Choroideremia	Choroideremia	BEFREE	10420193, 10420196, 10447648, 11796263, 12668061, 12827496, 1302003, 14566650, 15186776, 15370541, 16410831, 16936131, 17483097, 17698759, 17935254, 18087237, 18385043, 18773267, 19597113, 19764077, 1979308, 20027300, 21905166, 22017263, 22025891, 22355242, 22965595, 23273018, 23667438, 23756766, 24358126, 24439297, 24791138, 24913019, 24962736, 25912515, 26216097, 27329764, 27739455, 27820636, 27936069, 28041643, 28055019, 28098911, 28152124, 28230863, 28271586, 28643494, 28774736, 28820183, 28911202, 29188508, 29377744, 29414605, 29555028, 29620233, 29707603, 29721931, 29932012, 29940166, 30240725, 30297895, 30308560, 30341801, 30575280, 30617669, 30689859, 30995293, 31465092, 3422216, 3481306, 7592656, 7981670, 7981671, 8294464, 8749050, 9067750, 9349950, 9678418, 9754170		★☆☆☆☆ Found in Text Mining only
Choroideremia	Choroideremia	CLINVAR_DG	10447648, 12203991, 12827496, 1302003, 16936131		★☆☆☆☆ Found in Text Mining only
Choroideremia	Choroideremia	Pubtator	12668061, 15186776, 20027300, 22355242, 23940504, 24358126, 24439297, 24672218, 24791138, 26216097, 26411914, 26720468, 27070432, 27739455, 2798422, 28098911, 28112135, 29045269, 30541579, 31855248, 32441177, 34254989, 34440285, 35040292, 35886051, 8294464	Associate	★☆☆☆☆ Found in Text Mining only
Choroideremia	Choroideremia	LHGDN	14566650, 16087855, 17698759, 18487380, 18773267		★☆☆☆☆ Found in Text Mining only
Choroideremia	Choroideremia	UNIPROT_DG	19427510, 21905166, 7951216		★☆☆☆☆ Found in Text Mining only
Choroideremia	Choroideremia	GENOMICS_ENGLAND_DG	21905166		★☆☆☆☆ Found in Text Mining only
Choroideremia	Choroideremia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Choroideremia	Choroideremia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Choroideremia	Choroideremia	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Choroideremia	Choroideremia	Orphanet			★☆☆☆☆ Found in Text Mining only
Chromosome 11p11.2 Deletion Syndrome	11p11.2 Deletion Syndrome	BEFREE	27615559		★☆☆☆☆ Found in Text Mining only
Chronic colitis	Colitis	BEFREE	30165600		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	11994483, 16437604, 18484673, 19636295, 19733697, 21041985, 22842481, 23675530, 23723167, 24339869, 24651526, 25222661, 25329334, 26019446, 26153869, 26385165, 26451047, 26548451, 26742586, 26818658, 27105524, 27116994, 27473029, 27543807, 27687530, 27709266, 27932454, 27965154, 28120846, 28199527, 28222755, 28224733, 28230865, 28263971, 28267639, 28274798, 28358365, 28439030, 28614718, 28631049, 28641125, 28701721, 28711031, 28726958, 28731213, 28752563, 28766553, 28804459, 28961808, 28979689, 29018440, 29030607, 29136951, 29167641, 29228570, 29228739, 29274006, 29383023, 29411665, 29463799, 29471162, 29535731, 29546052, 29854830, 30179653, 30210688, 30212750, 30214011, 30219846, 30251681, 30315268, 30319652, 30333822, 30386332, 30452921, 30483266, 30487795, 30524422, 30530166, 30530168, 30550872, 30590526, 30715224, 30806428, 30824734, 30873168, 30938416, 30972059, 31018047, 31094420, 31102124, 31202807, 31253778, 31351364, 31358760, 31399193, 31401159, 31417178, 31472273, 31594855, 31737179, 31843928		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	25449198, 28055019, 29442390, 29876980, 30532707, 31146002, 31182925		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	22753274, 24282287, 25820779, 27262172, 27433921		★☆☆☆☆ Found in Text Mining only
Color Vision Defects	Color vision deficiency	Pubtator	23940504	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	20885960, 25605242, 26756615, 27448759, 27863401, 28057020, 28145888, 28475173, 29197069, 29228570, 29419930, 30391747, 30700439, 31125123, 31182925, 31465837, 31473343, 31477841		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	26756615, 28222755, 29197069, 30391747		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34302946, 37728516	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	37728516	Associate	★☆☆☆☆ Found in Text Mining only
Complete hydatidiform mole	Complete Hydatidiform Mole	BEFREE	17935254, 22017263, 22025891, 28911202		★☆☆☆☆ Found in Text Mining only
Congenital hypomyelinating neuropathy	Congenital Hypomyelinating Neuropathy	BEFREE	10207934, 10764043, 15094849, 15148307, 15184631, 15261887, 16252242, 16775366, 17940173, 19344920, 20621479, 22176150, 23290023, 31777123, 9537424		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypomyelinating neuropathy	Congenital Hypomyelinating Neuropathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypoplasia of adrenal gland	Congenital adrenal hypoplasia	BEFREE	8535061		★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pes cavus	Congenital Pes Cavus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	24725463	Associate	★☆☆☆☆ Found in Text Mining only
Craniocerebral Trauma	Craniocerebral trauma	Pubtator	22275250	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	19720790	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	26564988, 28267639		★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic Neutropenia	BEFREE	30239779		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	11080237, 12805115, 15377707, 1675684	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	10084540, 10207934, 10219749, 10319895, 10371530, 10399750, 10716658, 11345007, 12242557, 12296688, 12450416, 16198109, 16775366, 17143884, 17940173, 19344920, 20456450, 20461396, 21504504, 24341417, 26135405, 28979689, 31059078, 7849745, 8033938, 8664899, 8835320, 8881991, 9187667, 9222756, 9488160, 9588852, 9633821		★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	UNIPROT_DG	11438991, 11596785, 11835375, 12497641, 7506095, 8630052, 8816708, 9187667, 9222756, 9452055, 9452091, 9633821		★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	ORPHANET_DG	12242557, 8816708		★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas syndrome	Dejerine-Sottas Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Dementia	BEFREE	29662465		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	11080236, 17940173, 19293842, 22176150, 22451207, 24053775, 31769568, 8871588	Associate	★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	11112514		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	21271299, 27745782, 28807166		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	33082300	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	28068899	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29294366		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	27448167	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	24854763, 31325604		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	20460425	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	GWASDB_DG	19252134		★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic Nephropathy	BEFREE	19922956		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	21911749, 24854763		★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	30536465		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	30723110		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	17483097, 28055019, 9067750		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal lower limb amyotrophy	Distal lower limb amyotrophy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10071056, 10406984, 10553995, 10764043, 11080237, 11835375, 14638973, 15004559, 17663472, 19293842, 21840889, 23290023, 26310628, 9595994		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	37728516	Associate	★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	10720300, 12815663		★☆☆☆☆ Found in Text Mining only
Eye Diseases Hereditary	Eye disease	Pubtator	36729443	Associate	★☆☆☆☆ Found in Text Mining only
Familial Testotoxicosis	Testotoxicosis	BEFREE	9777570		★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	BEFREE	30681631		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	BEFREE	30319652		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	31004074		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	28982295		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30145731		★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	18810797, 26442657		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	19720790	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Disorders	Headache	Pubtator	12805115	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	16844954, 17765268	Associate	★☆☆☆☆ Found in Text Mining only
Heart Block	Heart Block	BEFREE	21256749		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	35068417	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary liability to pressure palsies	Hereditary Liability To Pressure Palsies	BEFREE	10737979, 10975746, 11081809, 11140841, 18663734, 21194947, 21692910, 24819634, 26454100, 7515304, 8609929, 8800924, 9032649, 9187667, 9455987, 9678704, 9771665		★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory Neuropathies	Hereditary motor and sensory neuropathy	BEFREE	10406984, 11080236, 11231025, 12805115, 1407588, 1517763, 16844954, 1733853, 19344920, 20008656, 21107784, 25694466, 28214652, 8033938, 8255457, 9595994		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Motor and Sensory Neuropathies	Hereditary motor and sensory neuropathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Motor and Sensory Neuropathy Type I	Hereditary motor and sensory neuropathy	BEFREE	10520946, 10975746, 11080236, 11081809, 11437164, 15050444, 1517763, 1822787, 26310628, 7530774, 7891814, 8255457, 8664899		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Motor and Sensory Neuropathy Type I	Hereditary motor and sensory neuropathy	CLINVAR_DG	10581375, 10764043, 10923043, 10965800, 11182278, 11437164, 11445635, 11484669, 11545686, 11835375, 12090401, 12207153, 12207932, 12402337, 12477701, 12707985, 14711881, 15170620, 15716547, 16279991, 16488608, 16495463, 16543539, 16616847, 16844954, 17143884, 17602703, 18337304, 18347322, 18636082, 19259128, 19293842, 19475438, 19882637, 20215982, 20461396, 20571287, 20937820, 21149811, 21504504, 21840889, 22176150, 22433810, 22451207, 22689911, 23279346, 23290023, 23649551, 24028194, 24819634, 25429913, 25614874, 25694466, 26234237, 26310628, 26454100, 27088055, 27639257, 29670817, 7505151, 7506095, 7527371, 7530550, 7688964, 7693129, 7694726, 8644725, 8797476, 8800924, 8938258, 9168174, 9452091, 9588852, 9595994, 9633821, 9888385		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Motor and Sensory Neuropathy Type I	Hereditary motor and sensory neuropathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	BEFREE	11080236, 11231025, 15111691, 1517763, 16775367, 9595994		★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	Pubtator	37372933	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Motor Neuropathy	Hereditary sensory and motor neuropathy	Pubtator	10329755, 10406984, 10764043, 11080236, 12805115, 16252242, 16844954, 17940173, 29670817, 31173589, 8816708	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary, Type VII, Motor and Sensory Neuropathy	Motor and Sensory Neuropathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	BEFREE	11412856		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform Mole	BEFREE	31567274		★☆☆☆☆ Found in Text Mining only
HYDATIDIFORM MOLE, RECURRENT, 1	Hydatidiform Mole	BEFREE	31567274		★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	8855822, 8921887		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	10727485	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	26674743, 28156160, 30093940, 30550995, 30972059, 31772324		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	19720790	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	11231025		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	1675684	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	29419930		★☆☆☆☆ Found in Text Mining only
Keratoderma palmoplantar spastic paralysis	Keratoderma Palmoplantar Spastic Paralysis	ORPHANET_DG	27639257		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	24551085	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	24551085	Associate	★☆☆☆☆ Found in Text Mining only
Latent Autoimmune Diabetes in Adults	Latent autoimmune diabetes in adults	Pubtator	33391182	Associate	★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	23940504	Associate	★☆☆☆☆ Found in Text Mining only
Leigh Syndrome Due To Mitochondrial Complex I Deficiency	Leigh syndrome	Pubtator	29045269	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	29627640		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	Pubtator	26720468	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	CTD_human_DG	19233941		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	38347676	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	12716467	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29554092, 31141992, 31710991		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	27778345		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	19233941		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28230863		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of oropharynx	Malignant Neoplasm Of Oropharynx	BEFREE	29206831		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28648414		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	22753274		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21799775, 24126910, 27778345, 28055019, 28230863, 28846638, 29439531, 30083271, 30152175, 30359174, 30907395, 30971761, 31092437		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25449198, 28055019, 29442390, 29876980, 30532707, 31146002, 31182925		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15863513		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	21271299, 27745782, 28807166		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	11231025		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	11796263		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	19502386		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	10071056, 10406984, 10553995, 10764043, 11080237, 11835375, 14638973, 15004559, 17663472, 19293842, 21840889, 23290023, 26310628, 9595994		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	31355145		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	LHGDN	16279991		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	15704143		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	24725463	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18465330, 21799775, 22541662, 24516257, 24651526, 26517809, 27717282, 27941378, 28055019, 28230863, 28267439, 28686677, 29293312, 29896300, 30126367, 30310258, 30472120, 30498394, 30501625, 31122284, 31704599, 31733286, 8608515, 9777570		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	17514737		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	11080237, 16252242, 16844954, 22176150, 22704856, 22734905, 26310628, 31173589, 37581289	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	11438991, 18579801, 28922532		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	31125589		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10799759, 12710931, 12923682, 18262354, 19883732, 19962414, 24412329, 26979073, 28445933, 28849030, 30793512		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	23840650		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	1729894, 8418668		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	32154989	Associate	★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	10214757, 10219749, 10716658, 11080236, 11160475, 11345007, 12090401, 12221176, 12948789, 14608378, 14638973, 14711881, 1517763, 15261606, 16198109, 16252242, 16414078, 16519783, 16844954, 17030746, 17143884, 17172621, 18337304, 19344920, 20537790, 20556410, 20621479, 21107784, 21256749, 22176150, 22704856, 22734905, 23250879, 23279346, 23811036, 26989944, 30239779, 30481294, 30995221, 31173589, 31278453, 8128981, 8135298, 9488160		★☆☆☆☆ Found in Text Mining only
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE	Neuropathy	GENOMICS_ENGLAND_DG	26310628		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE	Neuropathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, CONGENITAL HYPOMYELINATING, 2	Neuropathy	UNIPROT_DG	10319895, 15184631, 8816708		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEUROPATHY, CONGENITAL HYPOMYELINATING, 2	Neuropathy	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuropathy, Painful	Neuropathy	BEFREE	16616847		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	28068899	Associate	★☆☆☆☆ Found in Text Mining only
Oropharyngeal Carcinoma	Oropharyngeal Carcinoma	BEFREE	29206831		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	18520037	Inhibit	★☆☆☆☆ Found in Text Mining only
Ostium secundum atrial septal defect	Secundum atrial septal defect	BEFREE	30681631		★☆☆☆☆ Found in Text Mining only
Other and unspecified reactive psychosis	Reactive Psychosis	GWASCAT_DG	24132900		★☆☆☆☆ Found in Text Mining only
Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome	Palmoplantar Keratoderma-Hereditary Motor And Sensory Neuropathy Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	29566662		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	27491318		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	10720300, 10972966, 11356310, 11751692, 12493604, 12710931, 12815663, 14583385, 14718715, 16250025, 16460685, 16604306, 16896109, 17872362, 18210157, 18262354, 18322262, 18404644, 18485051, 18495557, 19047559, 19196539, 19369384, 19412953, 19498036, 19890971, 19962414, 20060621, 20399833, 20664293, 21060011, 21856379, 22275250, 23736218, 23939307, 24055409, 24217228, 24412329, 24578302, 24656894, 24863655, 24989254, 25232110, 25623333, 26979073, 27470562, 27745782, 28922532, 29631008, 29662465, 29730780, 29859327, 29920520, 29940559, 30165626, 30259276, 30536337, 30686998, 31004074, 31234238, 31299185, 31756288, 31816026		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	17531291, 19196539, 19834617, 21060011, 22275250, 23736218, 24656894, 29730780, 33082300, 35068417	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	20664293	Inhibit	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	31234238		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	17077307, 19369384, 19857570, 22275250, 24656894		★☆☆☆☆ Found in Text Mining only
PEELING SKIN SYNDROME	Peeling Skin Syndrome	BEFREE	27615559		★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	BEFREE	10219749, 10463363, 10586225, 10716658, 10965800, 11345007, 14711881, 15170620, 16198109, 16775374, 16856127, 17602703, 17940173, 18337304, 18663734, 21256749, 21277678, 21940171, 22018721, 22176150, 29120605, 29961519, 31760652, 31769568, 7849745, 8033938, 8871588, 8882569, 9595994		★☆☆☆☆ Found in Text Mining only
Peripheral motor neuropathy	Motor nerve neuritis	BEFREE	20350294, 22222859, 27344971		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	10371530, 10586252, 14742601, 16519783, 19541485, 22490868, 23279346, 26310628, 29136549, 30920665, 31059078, 8862346, 9032649		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	14742601, 16252242, 17940173, 26310628	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	14742601, 22490868, 30920665		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peripheral Neuropathy	Peripheral Neuropathy	LHGDN	16414078		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pineal Gland Neoplasm	Pineal Gland Neoplasm	BEFREE	9349950		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	31325604		★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	11876747, 17940173, 27164712, 30677751	Associate	★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	11080236, 16616847, 20556410		★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	LHGDN	18209201		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	29662465		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28648414		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	GWASCAT_DG	24132900		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	16844954, 23704315, 24863655, 29033051, 31004074		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Willis-ekbom disease	Pubtator	16844954	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	8294464	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	BEFREE	28152124		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	LHGDN	16936131		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	28112135, 32423767, 35621151	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	LHGDN	18487380		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	23940504, 26216097, 33946315, 35040292	Associate	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	24913019, 26216097, 29377744		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG	30718709		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	29198077		★☆☆☆☆ Found in Text Mining only
	Roussy-Levy Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Roussy-Levy Syndrome (disorder)	Roussy-Levy Syndrome	ORPHANET_DG	10553995		★☆☆☆☆ Found in Text Mining only
Roussy-Levy Syndrome (disorder)	Roussy-Levy Syndrome	UNIPROT_DG	10553995		★☆☆☆☆ Found in Text Mining only
Roussy-Levy Syndrome (disorder)	Roussy-Levy Syndrome	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Roussy-Levy Syndrome (disorder)	Roussy-Levy Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Roussy-Levy Syndrome (disorder)	Roussy-Levy Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28981898		★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	26310628	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	BEFREE	11701152		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensorimotor neuropathy	Sensorimotor neuropathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	BEFREE	10214757		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensory neuropathy	Sensory neuropathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Septicemia	Septicemia	BEFREE	20727424		★☆☆☆☆ Found in Text Mining only
Sex Differentiation Disorders	Sex Differentiation Disorders	BEFREE	10219749, 10716658, 11345007		★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs Inversus	BEFREE	28687795		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	23704315		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	37876534	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	23887627, 27615559		★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	19369384		★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	Pubtator	30920665	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	26564988, 26818658, 28267639, 29772233, 30175139, 30241336, 30334065, 30530166, 31115770, 31214921, 31399193, 31408067, 31533201, 31553906, 31694526, 31710674		★☆☆☆☆ Found in Text Mining only
Usher Syndromes	Usher syndrome	Pubtator	23940504	Associate	★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	22355242, 35621151	Associate	★☆☆☆☆ Found in Text Mining only
X-linked Adrenal Hypoplasia	Adrenal Hypoplasia, X-Linked	BEFREE	8535061, 8855822, 8921887, 9360549		★☆☆☆☆ Found in Text Mining only