POMT2 (protein O-mannosyltransferase 2)

Gene

• Entrez ID: 29954
• Gene name: Protein O-mannosyltransferase 2
• Gene symbol: POMT2
• Synonyms (NCBI Gene): LGMD2N, LGMDR14, MDDGA2, MDDGB2, MDDGC2
• Chromosome: 14
• Chromosome location: 14q24.3
• Summary: The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT1 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause o

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs117173425	T>C	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs119463989	G>A,T	Pathogenic, likely-benign	Stop gained, coding sequence variant, synonymous variant, non coding transcript variant
rs141193672	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs141339355	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs142299878	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs142479943	T>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, non coding transcript variant
rs144748043	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs147845081	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, intron variant, non coding transcript variant
rs147871747	G>A,C,T	Uncertain-significance, pathogenic, likely-benign	Stop gained, synonymous variant, coding sequence variant, non coding transcript variant, intron variant, missense variant
rs150491326	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs151051452	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs190285831	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs200163818	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs200198778	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs267606963	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs267606964	A>G	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs267606965	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs267606966	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs267606967	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs267606968	C>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs267606969	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs267606970	C>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs267606971	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs267606972	A>T	Not-provided, pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs368817785	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs533916138	C>T	Pathogenic	Splice donor variant, intron variant
rs554801559	T>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs587777815	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587780422	C>T	Likely-pathogenic, uncertain-significance	Intron variant
rs587780423	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, intron variant
rs727502855	G>A,C	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs727502857	C>A	Pathogenic	Splice donor variant
rs727503873	T>C	Pathogenic	Splice acceptor variant
rs747493997	T>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs755660222	C>-	Pathogenic	Intron variant, frameshift variant, non coding transcript variant, coding sequence variant
rs759220971	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs764210532	AT>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs764878423	G>T	Pathogenic	Stop gained, intron variant, non coding transcript variant, coding sequence variant
rs765276419	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, non coding transcript variant, coding sequence variant, missense variant
rs766169193	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs774412117	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs775932206	G>A	Pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs780725241	->G	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs781093215	TACT>-	Conflicting-interpretations-of-pathogenicity	Intron variant, splice donor variant, non coding transcript variant, coding sequence variant
rs786205625	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs794727127	T>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs797045898	CTAGG>TCA	Pathogenic	Intron variant, splice acceptor variant
rs886042094	GCCATCCG>C,G	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs886042401	->TG	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs886043110	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs886044256	T>C,G	Pathogenic	Intron variant, splice acceptor variant
rs953851097	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1026361359	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs1060499766	A>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1064796019	C>-	Pathogenic	Intron variant, splice donor variant
rs1085307985	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1185491348	CT>-	Likely-pathogenic	Splice acceptor variant
rs1229291913	->C	Likely-pathogenic	Splice acceptor variant, coding sequence variant, non coding transcript variant
rs1452558347	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555351849	CT>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555351889	TC>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555351894	GT>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555352706	->G	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1566656247	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, frameshift variant
rs1594796439	A>-	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT041610	hsa-miR-146b-5p	CLASH	23622248
MIRT470634	hsa-miR-5190	PAR-CLIP	23592263
MIRT470633	hsa-miR-219b-3p	PAR-CLIP	23592263
MIRT470632	hsa-miR-542-3p	PAR-CLIP	23592263
MIRT470634	hsa-miR-5190	PAR-CLIP	23592263
MIRT470633	hsa-miR-219b-3p	PAR-CLIP	23592263
MIRT470632	hsa-miR-542-3p	PAR-CLIP	23592263
MIRT1250064	hsa-miR-1184	CLIP-seq
MIRT1250065	hsa-miR-1197	CLIP-seq
MIRT1250066	hsa-miR-1207-3p	CLIP-seq
MIRT1250067	hsa-miR-1288	CLIP-seq
MIRT1250068	hsa-miR-1321	CLIP-seq
MIRT1250069	hsa-miR-1343	CLIP-seq
MIRT1250070	hsa-miR-145	CLIP-seq
MIRT1250071	hsa-miR-149	CLIP-seq
MIRT1250072	hsa-miR-1976	CLIP-seq
MIRT1250073	hsa-miR-198	CLIP-seq
MIRT738959	hsa-miR-221	CLIP-seq
MIRT738958	hsa-miR-222	CLIP-seq
MIRT1250074	hsa-miR-2467-3p	CLIP-seq
MIRT1250075	hsa-miR-2682	CLIP-seq
MIRT1250076	hsa-miR-2964a-3p	CLIP-seq
MIRT738969	hsa-miR-302a	CLIP-seq
MIRT738971	hsa-miR-302b	CLIP-seq
MIRT738960	hsa-miR-302c	CLIP-seq
MIRT738968	hsa-miR-302d	CLIP-seq
MIRT738970	hsa-miR-302e	CLIP-seq
MIRT1250077	hsa-miR-3126-5p	CLIP-seq
MIRT1250078	hsa-miR-3137	CLIP-seq
MIRT1250079	hsa-miR-3153	CLIP-seq
MIRT1250080	hsa-miR-3169	CLIP-seq
MIRT1250081	hsa-miR-3201	CLIP-seq
MIRT1250082	hsa-miR-3616-3p	CLIP-seq
MIRT1250083	hsa-miR-3689a-3p	CLIP-seq
MIRT1250084	hsa-miR-3689c	CLIP-seq
MIRT1250085	hsa-miR-3692	CLIP-seq
MIRT738967	hsa-miR-372	CLIP-seq
MIRT738966	hsa-miR-373	CLIP-seq
MIRT1250086	hsa-miR-4252	CLIP-seq
MIRT1250087	hsa-miR-4267	CLIP-seq
MIRT1250088	hsa-miR-4274	CLIP-seq
MIRT1250089	hsa-miR-4419a	CLIP-seq
MIRT1250090	hsa-miR-4423-3p	CLIP-seq
MIRT1250091	hsa-miR-4436b-3p	CLIP-seq
MIRT1250092	hsa-miR-4448	CLIP-seq
MIRT1250093	hsa-miR-4468	CLIP-seq
MIRT738972	hsa-miR-4480	CLIP-seq
MIRT1250094	hsa-miR-449c	CLIP-seq
MIRT1250095	hsa-miR-4510	CLIP-seq
MIRT1250096	hsa-miR-4519	CLIP-seq
MIRT1250097	hsa-miR-4646-5p	CLIP-seq
MIRT1250098	hsa-miR-4668-5p	CLIP-seq
MIRT1250099	hsa-miR-4691-3p	CLIP-seq
MIRT1250100	hsa-miR-4728-5p	CLIP-seq
MIRT1250101	hsa-miR-4739	CLIP-seq
MIRT1250102	hsa-miR-4742-3p	CLIP-seq
MIRT1250103	hsa-miR-4743	CLIP-seq
MIRT1250104	hsa-miR-4747-5p	CLIP-seq
MIRT1250105	hsa-miR-4756-5p	CLIP-seq
MIRT738956	hsa-miR-4786-3p	CLIP-seq
MIRT1250106	hsa-miR-4791	CLIP-seq
MIRT1250107	hsa-miR-4792	CLIP-seq
MIRT1250108	hsa-miR-516a-3p	CLIP-seq
MIRT738964	hsa-miR-520a-3p	CLIP-seq
MIRT738961	hsa-miR-520b	CLIP-seq
MIRT738962	hsa-miR-520c-3p	CLIP-seq
MIRT738963	hsa-miR-520d-3p	CLIP-seq
MIRT738965	hsa-miR-520e	CLIP-seq
MIRT1250109	hsa-miR-548aa	CLIP-seq
MIRT738957	hsa-miR-548v	CLIP-seq
MIRT1250110	hsa-miR-602	CLIP-seq
MIRT1250111	hsa-miR-630	CLIP-seq
MIRT1250112	hsa-miR-637	CLIP-seq
MIRT1250113	hsa-miR-760	CLIP-seq
MIRT1250114	hsa-miR-935	CLIP-seq
MIRT1250115	hsa-miR-940	CLIP-seq
MIRT2073823	hsa-miR-1193	CLIP-seq
MIRT1250066	hsa-miR-1207-3p	CLIP-seq
MIRT2073824	hsa-miR-1278	CLIP-seq
MIRT1250069	hsa-miR-1343	CLIP-seq
MIRT1250070	hsa-miR-145	CLIP-seq
MIRT2073825	hsa-miR-1972	CLIP-seq
MIRT1250073	hsa-miR-198	CLIP-seq
MIRT2073826	hsa-miR-2115	CLIP-seq
MIRT2073827	hsa-miR-3117-5p	CLIP-seq
MIRT1250078	hsa-miR-3137	CLIP-seq
MIRT1250079	hsa-miR-3153	CLIP-seq
MIRT1250081	hsa-miR-3201	CLIP-seq
MIRT2073828	hsa-miR-3622b-5p	CLIP-seq
MIRT1250085	hsa-miR-3692	CLIP-seq
MIRT2073829	hsa-miR-3913-3p	CLIP-seq
MIRT2073830	hsa-miR-425	CLIP-seq
MIRT2073831	hsa-miR-4253	CLIP-seq
MIRT1250088	hsa-miR-4274	CLIP-seq
MIRT2073832	hsa-miR-4290	CLIP-seq
MIRT1250093	hsa-miR-4468	CLIP-seq
MIRT1250096	hsa-miR-4519	CLIP-seq
MIRT2073833	hsa-miR-4645-5p	CLIP-seq
MIRT1250097	hsa-miR-4646-5p	CLIP-seq
MIRT1250098	hsa-miR-4668-5p	CLIP-seq
MIRT2073834	hsa-miR-4673	CLIP-seq
MIRT2073835	hsa-miR-4712-5p	CLIP-seq
MIRT1250102	hsa-miR-4742-3p	CLIP-seq
MIRT1250103	hsa-miR-4743	CLIP-seq
MIRT2073836	hsa-miR-4755-3p	CLIP-seq
MIRT1250106	hsa-miR-4791	CLIP-seq
MIRT2073837	hsa-miR-489	CLIP-seq
MIRT2073838	hsa-miR-512-5p	CLIP-seq
MIRT2073839	hsa-miR-515-5p	CLIP-seq
MIRT1250108	hsa-miR-516a-3p	CLIP-seq
MIRT1250110	hsa-miR-602	CLIP-seq
MIRT1250111	hsa-miR-630	CLIP-seq
MIRT2073840	hsa-miR-770-5p	CLIP-seq
MIRT1250114	hsa-miR-935	CLIP-seq
MIRT2300662	hsa-miR-150	CLIP-seq
MIRT2073825	hsa-miR-1972	CLIP-seq
MIRT2300663	hsa-miR-3157-3p	CLIP-seq
MIRT2300664	hsa-miR-3620	CLIP-seq
MIRT2073828	hsa-miR-3622b-5p	CLIP-seq
MIRT2300665	hsa-miR-3689d	CLIP-seq
MIRT2300666	hsa-miR-3909	CLIP-seq
MIRT2300667	hsa-miR-3921	CLIP-seq
MIRT2300668	hsa-miR-3928	CLIP-seq
MIRT2300669	hsa-miR-3945	CLIP-seq
MIRT2300670	hsa-miR-3973	CLIP-seq
MIRT2300671	hsa-miR-4251	CLIP-seq
MIRT2073831	hsa-miR-4253	CLIP-seq
MIRT2073832	hsa-miR-4290	CLIP-seq
MIRT2300672	hsa-miR-4312	CLIP-seq
MIRT2300673	hsa-miR-4329	CLIP-seq
MIRT2300674	hsa-miR-4530	CLIP-seq
MIRT2073833	hsa-miR-4645-5p	CLIP-seq
MIRT2300675	hsa-miR-4653-5p	CLIP-seq
MIRT2073834	hsa-miR-4673	CLIP-seq
MIRT2300676	hsa-miR-4713-5p	CLIP-seq
MIRT2300677	hsa-miR-4731-5p	CLIP-seq
MIRT2300678	hsa-miR-4768-3p	CLIP-seq
MIRT2300679	hsa-miR-4796-3p	CLIP-seq
MIRT2300680	hsa-miR-4802-5p	CLIP-seq
MIRT1250108	hsa-miR-516a-3p	CLIP-seq
MIRT2300681	hsa-miR-520g	CLIP-seq
MIRT2300682	hsa-miR-520h	CLIP-seq
MIRT2300683	hsa-miR-532-3p	CLIP-seq
MIRT2300684	hsa-miR-665	CLIP-seq
MIRT2300685	hsa-miR-765	CLIP-seq
MIRT2300686	hsa-miR-874	CLIP-seq
MIRT2392842	hsa-miR-185	CLIP-seq
MIRT2392843	hsa-miR-4306	CLIP-seq
MIRT2392844	hsa-miR-4474-5p	CLIP-seq
MIRT2392845	hsa-miR-4644	CLIP-seq
MIRT2392846	hsa-miR-516b	CLIP-seq
MIRT2597531	hsa-miR-1539	CLIP-seq
MIRT2597532	hsa-miR-3183	CLIP-seq
MIRT2597533	hsa-miR-3197	CLIP-seq
MIRT2597534	hsa-miR-331-3p	CLIP-seq
MIRT2597535	hsa-miR-3605-3p	CLIP-seq
MIRT2597536	hsa-miR-3907	CLIP-seq
MIRT2300666	hsa-miR-3909	CLIP-seq
MIRT1250089	hsa-miR-4419a	CLIP-seq
MIRT1250095	hsa-miR-4510	CLIP-seq
MIRT2597537	hsa-miR-4690-3p	CLIP-seq
MIRT2597538	hsa-miR-4723-3p	CLIP-seq
MIRT2597531	hsa-miR-1539	CLIP-seq
MIRT2597534	hsa-miR-331-3p	CLIP-seq
MIRT1250089	hsa-miR-4419a	CLIP-seq
MIRT1250095	hsa-miR-4510	CLIP-seq
MIRT2597537	hsa-miR-4690-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000030	Function	Mannosyltransferase activity	IEA
GO:0000030	Function	Mannosyltransferase activity	IMP	28512129
GO:0004169	Function	Dolichyl-phosphate-mannose-protein mannosyltransferase activity	IBA
GO:0004169	Function	Dolichyl-phosphate-mannose-protein mannosyltransferase activity	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006493	Process	Protein O-linked glycosylation	IEA
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0021542	Process	Dentate gyrus development	IEA
GO:0035269	Process	Protein O-linked glycosylation via mannose	IBA
GO:0035269	Process	Protein O-linked glycosylation via mannose	IMP	28512129
GO:0046872	Function	Metal ion binding	IEA
GO:0071711	Process	Basement membrane organization	IEA
GO:0150103	Process	Reactive gliosis	IEA

Other IDs

• MIM: 607439
• HGNC: 19743
• e!Ensembl: ENSG00000009830

Protein

• UniProt ID: Q9UKY4
• Protein name: Protein O-mannosyl-transferase 2 (EC 2.4.1.109) (Dolichyl-phosphate-mannose--protein mannosyltransferase 2)
• Protein function: Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient (PubMed:14699049, PubMed:28512129
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02366	PMT	62 → 306	Dolichyl-phosphate-mannose-protein mannosyltransferase	Family
  PF02815	MIR	353 → 514	MIR domain	Domain
  PF16192	PMT_4TMC	538 → 748	C-terminal four TMM region of protein-O-mannosyltransferase	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in testis; detected at low levels in most tissues.
• Sequence:

  MPPATGGGLAESELRPRRGRCGPQAARAAGRDVAAEAVARSPKRPAWGSRRFEAVGWWAL
  LALVTLLSFATRFHRLDEPPHICWDETHFGKMGSYYINRTFFFDVHPPLGKMLIGLAGYL
  SGYDGTFLFQKPGDKYEHHSYMGMRGFCAFLGSWLVPFAYLTVLDLSKSLSAALLTAALL
  TFDTGCLTLSQYILLDPILMFFIMAAMLSMVKYNSCADRPFSAPWWFWLSLTGVSLAGAL
  GVKFVGLFIILQVGLNTIADLWYLFGDLSLSLVTVGKHLTARVLCLIVLPLALYTATFAV
  HFMVLSKSGPGDGFFSSAFQARLSGNNLHNASIPEHLAYGSVITVKNLRMAIGYLHSHRH
  LYPEGIGARQQQVTTYLHKDYNNLWIIKKHNTNSDPLDPSFPVEFVRHGDIIRLEHKETS
  RNLHSHYHEAPMTRKHYQVTGYGINGTGDSNDFWRIEVVNRKFGNRIKVLRSRIRFIHLV
  TGCVLGSSGKVLPKWGWEQLEVTCTPYLKETLNSIWNVEDHINPKLPNISLDVLQPSFPE
  ILLESHMVMIRGNSGLKPKDNEFTSKPWHWPINYQGLRFSGVNDTDFRVYLLGNPVVWWL
  NLLSIALYLLSGSIIAVAMQRGARLPAEVAGLSQVLLRGGGQVLLGWTLHYFPFFLMGRV
  LYFHHYFPAMLFSSMLTGILWDTLLRLCAWGLASWPLARGIHVAGILSLLLGTAYSFYLF
  HPLAYGMVGPLAQDPQSPMAGLRWLDSWDF

• Sequence length: 750

Pathways

KEGG:

Other types of O-glycan biosynthesis
Mannose type O-glycan biosynthesis
Metabolic pathways

Reactome:

Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2
Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1
O-linked glycosylation

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
Abnormal brain morphology	Likely pathogenic	rs1060499766	RCV000454201	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive limb-girdle muscular dystrophy	Likely pathogenic; Pathogenic	rs727502855, rs119463989, rs267606971, rs200542239, rs2503276780, rs886044256	RCV001731484 RCV003230345 RCV004700184 RCV003123477 RCV003155780 RCV004586753	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive limb-girdle muscular dystrophy type 2N	Pathogenic; Likely pathogenic	rs368817785, rs1566648219, rs1379963762, rs773017813, rs1890825132, rs1475161693, rs2140188352, rs1594884932, rs1471500386, rs2140161850, rs778947923, rs752440109, rs1890013661, rs370529777, rs727502855, rs119463989, rs533916138, rs200198778, rs267606969, rs267606964, rs267606971, rs587777816, rs918556979, rs2503156505, rs1450297382, rs1280088838, rs1455013590, rs2503227296, rs2503285522, rs2503155393, rs755660222, rs2503171526, rs727502857, rs1382987890, rs2503372158, rs764210532, rs200542239, rs1318210394, rs886042401, rs886043110, rs775932206, rs886044256, rs961440747, rs751984732, rs2503166655, rs748900993, rs2503203792, rs1281781442, rs2503371405, rs2503171373, rs2503227032, rs2503151447, rs2503155838, rs2503156182, rs886042094, rs1206233497, rs1890320711, rs1566644166, rs754755294, rs1349494437, rs2503152623, rs2503167151, rs2503370932, rs1343361571, rs2503267774, rs2503193443, rs2503197148, rs2503197133, rs2503155551, rs2503155082, rs2503308246, rs2503308679, rs2503203091, rs766169193, rs774412117, rs764878423, rs1555351894, rs1555352706, rs147871747, rs1185491348, rs1566656247, rs1566644018, rs1594796439, rs1229291913, rs780725241, rs1891020302	RCV000705738 RCV001377042 RCV001387185 RCV001386284 RCV001383100 RCV002046466 RCV001933393 RCV001966588 RCV001906161 RCV002015359 RCV001971921 RCV001944385 RCV002023852 RCV002251056 RCV001004950 RCV005003320 RCV001203685 RCV000648175 RCV005222664 RCV000551490 RCV000003385 RCV003764520 RCV001851613 RCV002628828 RCV002647894 RCV003118851 RCV002706450 RCV002717359 RCV002766755 RCV002881630 RCV003765233 RCV002944078 RCV003007507 RCV003020609 RCV003053916 RCV003765463 RCV003778672 RCV003226131 RCV001228238 RCV003765630 RCV000648179 RCV001230047 RCV005012968 RCV004577041 RCV005012970 RCV005012971 RCV005356446 RCV003779076 RCV005012972 RCV003785399 RCV003783556 RCV003783838 RCV003782992 RCV003783137 RCV003781331 RCV003781730 RCV003789751 RCV003793154 RCV003780520 RCV003788653 RCV003796418 RCV003793971 RCV003791874 RCV003808049 RCV003791188 RCV003805710 RCV003802661 RCV003800747 RCV003808949 RCV003804827 RCV003801891 RCV003815760 RCV003805037 RCV003810390 RCV003766201 RCV005010483 RCV000822848 RCV003767385 RCV000648178 RCV000648183 RCV000648174 RCV000702634 RCV000703321 RCV002535223 RCV003768426 RCV000804444 RCV001004949 RCV003769416 RCV001207741	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies	Likely pathogenic	rs1555356398	RCV000503458	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs267606971	RCV001252357	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular dystrophy	Likely pathogenic; Pathogenic	rs200198778, rs797045898, rs755660222	RCV000193219 RCV000192561 RCV000194245	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Likely pathogenic	rs1890013661, rs961440747	RCV005361924 RCV005356446	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	Pathogenic; Likely pathogenic	rs368817785, rs1566648219, rs1379963762, rs773017813, rs1890825132, rs1475161693, rs2140188352, rs1594884932, rs1471500386, rs2140161850, rs778947923, rs752440109, rs1890013661, rs2140169285, rs727502855, rs119463989, rs533916138, rs587777815, rs200198778, rs267606969, rs267606964, rs267606965, rs267606971, rs267606970, rs587777816, rs918556979, rs2503156505, rs1450297382, rs1280088838, rs1455013590, rs2503227296, rs2503285522, rs2503155393, rs755660222, rs2503171526, rs727502857, rs1382987890, rs2503372158, rs764210532, rs200542239, rs1318210394, rs886042401, rs886043110, rs775932206, rs886044256, rs961440747, rs751984732, rs2503170895, rs2503166655, rs2503370241, rs755650000, rs2503370602, rs989901764, rs2503226690, rs748900993, rs1257697617, rs2503203792, rs2503333418, rs1281781442, rs2503371405, rs2503171373, rs2503227032, rs2503151447, rs2503155838, rs2503156182, rs886042094, rs1206233497, rs1890320711, rs1566644166, rs754755294, rs1349494437, rs2503152623, rs2503167151, rs2503370932, rs1343361571, rs2503267774, rs2503193443, rs2503197148, rs2503197133, rs2503155551, rs2503155082, rs2503308246, rs2503308679, rs2503203091, rs2503165018, rs760676697, rs2503372461, rs2503151406, rs2503372046, rs2503155683, rs766169193, rs774412117, rs764878423, rs1326631351, rs1555351894, rs1555352706, rs147871747, rs1185491348, rs1566656247, rs1566644018, rs1594796439, rs1229291913, rs780725241, rs1891020302, rs1891449262	RCV000705738 RCV001377042 RCV001387185 RCV001386284 RCV001383100 RCV002046466 RCV001933393 RCV001966588 RCV001906161 RCV002015359 RCV001971921 RCV001944385 RCV002023852 RCV002251169 RCV000699248 RCV000003373 RCV000003374 RCV000003375 RCV000003377 RCV000030874 RCV000551490 RCV000003382 RCV001203060 RCV000003387 RCV003764520 RCV000003391 RCV002628828 RCV002647894 RCV003118851 RCV002706450 RCV002717359 RCV002766755 RCV002881630 RCV003765233 RCV002944078 RCV003007507 RCV003020609 RCV003053916 RCV003765463 RCV003475531 RCV004572856 RCV005012815 RCV001228238 RCV003475908 RCV000648179 RCV001230047 RCV003472501 RCV003472502 RCV003472503 RCV003472504 RCV003472505 RCV003472506 RCV003472507 RCV003472508 RCV003472509 RCV003472510 RCV003472511 RCV003472512 RCV003472513 RCV003472514 RCV003472515 RCV003785399 RCV003783556 RCV003783838 RCV003782992 RCV003783137 RCV003781331 RCV003781730 RCV003789751 RCV003793154 RCV003780520 RCV003788653 RCV003796418 RCV003793971 RCV003791874 RCV003808049 RCV003791188 RCV003805710 RCV003802661 RCV003800747 RCV003808949 RCV003804827 RCV003801891 RCV004573337 RCV003805037 RCV003810390 RCV004574611 RCV004574612 RCV004574613 RCV004574614 RCV004574616 RCV004574617 RCV003476014 RCV005010483 RCV000822848 RCV003767385 RCV003471961 RCV000648178 RCV000648183 RCV000648174 RCV000702634 RCV000703321 RCV002535223 RCV003768426 RCV000804444 RCV005012437 RCV003769416 RCV001207741 RCV001283772	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2	Pathogenic; Likely pathogenic	rs368817785, rs1566648219, rs1379963762, rs773017813, rs1890825132, rs1475161693, rs2140188352, rs1594884932, rs1471500386, rs2140161850, rs778947923, rs752440109, rs1890013661, rs727502855, rs119463989, rs533916138, rs200198778, rs267606969, rs267606963, rs267606964, rs267606966, rs267606971, rs267606970, rs587777816, rs918556979, rs2503156505, rs1450297382, rs1280088838, rs1455013590, rs2503227296, rs2503285522, rs2503155393, rs755660222, rs2503171526, rs727502857, rs1382987890, rs2503372158, rs764210532, rs200542239, rs1318210394, rs886042401, rs886043110, rs775932206, rs886044256, rs961440747, rs751984732, rs2503166655, rs748900993, rs2503203792, rs1281781442, rs2503371405, rs2503171373, rs2503227032, rs2503151447, rs2503155838, rs2503156182, rs886042094, rs1206233497, rs1890320711, rs1566644166, rs754755294, rs1349494437, rs2503152623, rs2503167151, rs2503370932, rs1343361571, rs2503267774, rs2503193443, rs2503197148, rs2503197133, rs2503155551, rs2503155082, rs2503308246, rs2503308679, rs2503203091, rs766169193, rs774412117, rs764878423, rs1555351894, rs1555352706, rs147871747, rs1185491348, rs1566656247, rs1566644018, rs1594796439, rs1229291913, rs780725241, rs1891020302	RCV000705738 RCV001377042 RCV001387185 RCV001386284 RCV001383100 RCV002046466 RCV001933393 RCV001966588 RCV001906161 RCV002015359 RCV001971921 RCV001944385 RCV002023852 RCV000699248 RCV005003320 RCV001203685 RCV000003376 RCV000003378 RCV000003379 RCV000003380 RCV000003384 RCV001203060 RCV000030875 RCV000003390 RCV001851613 RCV002628828 RCV002647894 RCV003118851 RCV002706450 RCV002717359 RCV002766755 RCV002881630 RCV003765233 RCV002944078 RCV003007507 RCV003020609 RCV003053916 RCV003765463 RCV003778672 RCV005012815 RCV001228238 RCV003765630 RCV000648179 RCV001230047 RCV005012968 RCV005012969 RCV005012970 RCV005012971 RCV005356446 RCV003779076 RCV005012972 RCV003785399 RCV003783556 RCV003783838 RCV003782992 RCV003783137 RCV003781331 RCV003781730 RCV003789751 RCV003793154 RCV003780520 RCV003788653 RCV003796418 RCV003793971 RCV003791874 RCV003808049 RCV003791188 RCV003805710 RCV003802661 RCV003800747 RCV003808949 RCV003804827 RCV003801891 RCV003815760 RCV003805037 RCV003810390 RCV003766201 RCV005010483 RCV000822848 RCV003767385 RCV000648178 RCV000648183 RCV000648174 RCV000702634 RCV000703321 RCV002535223 RCV003768426 RCV000804444 RCV005012437 RCV003769416 RCV001207741	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
POMT2-related disorder	Pathogenic; Likely pathogenic	rs752440109, rs200198778, rs267606970, rs780725241	RCV005868463 RCV003398429 RCV003415634 RCV003411949	★★★★☆ 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
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital muscular dystrophy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MUSCULAR DYSTROPHY WITH CEREBELLAR INVOLVEMENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MUSCULAR DYSTROPHY WITH INTELLECTUAL DISABILITY	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Elevated circulating creatine kinase concentration	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMB-GIRDLE MUSCULAR DYSTROPHY AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-girdle muscular dystrophy, recessive	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LISSENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LISSENCEPHALY TYPE 2 WITH MUSCULAR AND OCULAR INVOLVEMENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACROGYRIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCLE EYE BRAIN DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCLE-EYE-BRAIN DISEASE	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy caused by variation in POMT2	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POMGNT1-related disorder	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WALKER-WARBURG CONGENITAL MUSCULAR DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WALKER-WARBURG SYNDROME	—	CTD, Orphanet CTD, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	17634419	Associate	★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agyria	Agyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
alpha-Dystroglycanopathies	alpha-Dystroglycanopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30760814	Associate	★☆☆☆☆ Found in Text Mining only
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	BEFREE	18513969, 19138766, 24556424		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	24002165	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	17634419, 24002165	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	BEFREE	17923109, 18513969		★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cobblestone Lissencephaly	Cobblestone Lissencephaly	BEFREE	22323514		★☆☆☆☆ Found in Text Mining only
Cobblestone Lissencephaly	Cobblestone Lissencephaly	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Cobblestone Lissencephaly	Cobblestone Lissencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	34565739	Associate	★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	19019316		★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital contracture	Congenital contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital keratoglobus	Congenital Keratoglobus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital meningocele	Congenital Meningocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	BEFREE	17634419, 17923109, 18513969, 18804929, 19019316, 19138766, 24002165		★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy with cerebellar involvement	Congenital Muscular Dystrophy With Cerebellar Involvement	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital muscular dystrophy with intellectual disability	Congenital Muscular Dystrophy With Intellectual Disability	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniometaphyseal Dysplasia Autosomal Dominant	Craniometaphyseal dysplasia	Pubtator	17634419	Associate	★☆☆☆☆ Found in Text Mining only
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	Craniometaphyseal Dysplasia	BEFREE	18513969, 19138766, 24556424		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	BEFREE	28815891		★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	18804929	Associate	★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fukuyama Type Congenital Muscular Dystrophy	Fukuyama Type Congenital Muscular Dystrophy	BEFREE	19019316		★☆☆☆☆ Found in Text Mining only
Fukuyama Type Congenital Muscular Dystrophy	Fukuyama Type Congenital Muscular Dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	24002165	Associate	★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	35595449	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Glaucoma, congenital	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29175898		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	LHGDN	17634419		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	17634419, 24002165, 34565739	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	17878207, 18513969, 19138766, 24556424		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Irido-corneo-trabecular dysgenesis (disorder)	Anterior segment dysgenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Left ventricular systolic dysfunction	Ventricular Systolic Dysfunction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30760814		★☆☆☆☆ Found in Text Mining only
Meningoencephalocele	Meningoencephalocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	17878207, 18513969, 19138766, 24556424		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	LHGDN	17634419		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	17634419	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	17923109, 18513969		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscle eye brain disease	Muscle Eye Brain Disease	BEFREE	17634419, 19019316, 29759639		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscle eye brain disease	Muscle Eye Brain Disease	ORPHANET_DG	17878207, 19299310		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscle eye brain disease	Muscle Eye Brain Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscle-eye-brain disease	Muscle Eye Brain Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	17878207, 17923109, 19019316, 19138766, 21496628, 24002165, 24183756, 24556424, 29175898, 29759639		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	LHGDN	17923109		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	18490429, 19067344, 20234391, 20816175		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular Dystrophy	Muscular dystrophy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K	Limb-girdle muscular dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1	Muscular Dystrophy-Dystroglycanopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1	Muscular Dystrophy-Dystroglycanopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2	Muscular Dystrophy-Dystroglycanopathy	UNIPROT_DG	15894594, 16701995, 17878207, 19138766, 22958903		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2	Muscular Dystrophy-Dystroglycanopathy	GENOMICS_ENGLAND_DG	15894594, 17559086, 17878207, 22700954, 27421908, 27604308, 28815891		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2	Muscular Dystrophy-Dystroglycanopathy	CLINVAR_DG	15894594, 17634419, 17878297, 18752264, 24002165, 26495167, 28980384		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	Muscular Dystrophy-Dystroglycanopathy	CLINVAR_DG	15894594, 17634419, 17878207, 17878297, 18752264, 19138766, 19299310, 24002165, 26495167, 27854218, 28980384		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	Muscular Dystrophy-Dystroglycanopathy	GENOMICS_ENGLAND_DG	15894594, 17559086, 27421908, 27604308		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	Muscular Dystrophy-Dystroglycanopathy	UNIPROT_DG	17634419, 19299310		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	Muscular Dystrophy-Dystroglycanopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy	CLINVAR_DG	15894594, 17634419, 17878297, 18752264, 24002165, 26495167, 27854218, 28980384		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy	GENOMICS_ENGLAND_DG	15894594, 17559086, 27421908, 27604308		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy	UNIPROT_DG	17878207, 17923109		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy	BEFREE	29759639		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Occipital Encephalocele	Occipital Encephalocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
POMT2-related limb-girdle muscular dystrophy R14	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Proximal amyotrophy	Amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dysplasia	Retinal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Right bundle branch block	Bundle Branch Block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	17634419		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 29	Spinocerebellar ataxia	Pubtator	17634419	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Submucous cleft of hard palate	Submucosal cleft palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	40312703	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	24002165	Associate	★☆☆☆☆ Found in Text Mining only
von Willebrand Disease Type 2	Von willebrand disorder	Pubtator	34565739	Associate	★☆☆☆☆ Found in Text Mining only
Walker-Warburg congenital muscular dystrophy	Walker-Warburg Congenital Muscular Dystrophy	BEFREE	15894594, 17634419, 18490429, 18513969, 19019316, 19138766, 24002165, 24183756, 24556424, 28815891, 29759639		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Walker-Warburg congenital muscular dystrophy	Walker-Warburg Congenital Muscular Dystrophy	ORPHANET_DG	19880378		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Walker-Warburg congenital muscular dystrophy	Walker-Warburg Congenital Muscular Dystrophy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Walker-Warburg syndrome	Walker-Warburg Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations