POMT1 (protein O-mannosyltransferase 1)

Gene

• Entrez ID: 10585
• Gene name: Protein O-mannosyltransferase 1
• Gene symbol: POMT1
• Synonyms (NCBI Gene): LGMD2K, LGMDR11, MDDGA1, MDDGB1, MDDGC1, RT
• Chromosome: 9
• Chromosome location: 9q34.13
• Summary: The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 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
rs28941782	G>A	Pathogenic	Intron variant, missense variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs119462981	C>T	Pathogenic	Non coding transcript variant, 5 prime UTR variant, stop gained, coding sequence variant, missense variant
rs119462982	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs119462983	G>A	Pathogenic	Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs119462986	G>A,C	Pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, missense variant
rs119462987	G>A	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs138064523	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, synonymous variant, 5 prime UTR variant, intron variant, coding sequence variant
rs138902646	C>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic, likely-benign, uncertain-significance	Coding sequence variant, non coding transcript variant, synonymous variant, stop gained
rs140553130	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs147143094	G>A,C	Conflicting-interpretations-of-pathogenicity	Terminator codon variant, synonymous variant, non coding transcript variant, stop lost
rs148887050	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, 5 prime UTR variant, stop gained, synonymous variant, non coding transcript variant, coding sequence variant
rs149682171	C>T	Likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs150937126	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	5 prime UTR variant, intron variant, synonymous variant, non coding transcript variant, coding sequence variant
rs200056620	C>G,T	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, stop gained, missense variant, 5 prime UTR variant
rs200465419	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, non coding transcript variant, synonymous variant, coding sequence variant, 5 prime UTR variant
rs201533471	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, 5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant
rs202095070	A>G	Benign-likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs202121299	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, non coding transcript variant, coding sequence variant
rs368975092	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs371653610	C>A,G,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs376373313	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs397514501	A>G	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant, intron variant, non coding transcript variant
rs397515400	C>T	Pathogenic	Intron variant, non coding transcript variant, missense variant, coding sequence variant
rs398124243	AG>TC	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs398124244	A>C,G	Likely-pathogenic	Synonymous variant, 5 prime UTR variant, missense variant, coding sequence variant, intron variant, non coding transcript variant
rs398124245	->G	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs398124247	C>G,T	Pathogenic	5 prime UTR variant, stop gained, missense variant, coding sequence variant, non coding transcript variant
rs587777817	->G	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587777818	CCT>-	Pathogenic	Non coding transcript variant, coding sequence variant, inframe deletion
rs587777819	TC>-,TCTC	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587777820	ATG>-	Pathogenic	5 prime UTR variant, non coding transcript variant, inframe deletion, coding sequence variant, intron variant
rs745738628	G>C	Pathogenic	Splice acceptor variant
rs746823238	G>T	Pathogenic	Splice donor variant, intron variant
rs750195040	CTT>-	Likely-pathogenic, pathogenic	Inframe deletion, intron variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs750453909	AAGA>-,AAGAAAGA	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs756973046	C>T	Pathogenic	Intron variant, stop gained, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs761848742	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs765230689	T>A,C	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant, synonymous variant
rs766648827	G>C,T	Pathogenic	Splice donor variant
rs772370177	G>A,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant, missense variant
rs772980661	G>A,C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, synonymous variant, missense variant
rs776061161	G>A,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, splice donor variant, 5 prime UTR variant, intron variant
rs776988725	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs777437871	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs778418119	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs794727208	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs886041907	->T	Pathogenic	Splice donor variant, intron variant
rs886043307	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained
rs886043948	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs1032439203	AG>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1051679985	G>A	Pathogenic	Splice donor variant, intron variant
rs1057520142	GGT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, splice acceptor variant
rs1250351189	T>-	Likely-pathogenic	Intron variant, 5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1315540509	->CGCTGGGTGCTGGCTG	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1356791510	A>-	Pathogenic	5 prime UTR variant, non coding transcript variant, frameshift variant, intron variant, coding sequence variant
rs1453773610	A>C,T	Likely-pathogenic	Intron variant, splice acceptor variant
rs1554773448	A>G	Likely-pathogenic	5 prime UTR variant, splice acceptor variant, intron variant
rs1554773974	CT>-	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554778005	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1564341846	C>A	Pathogenic	Intron variant, 5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1564364615	CT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1564365317	T>C	Likely-pathogenic	Splice donor variant
rs1588375386	C>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant, non coding transcript variant
rs1588377489	G>-	Likely-pathogenic	Coding sequence variant, splice donor variant, 5 prime UTR variant, intron variant, non coding transcript variant, frameshift variant
rs1588391612	C>A	Pathogenic	Stop gained, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs1588409344	AGTG>-	Pathogenic	Intron variant, splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1250058	hsa-miR-103a	CLIP-seq
MIRT1250059	hsa-miR-107	CLIP-seq
MIRT1250060	hsa-miR-1184	CLIP-seq
MIRT1250061	hsa-miR-3620	CLIP-seq
MIRT1250062	hsa-miR-451b	CLIP-seq
MIRT1250063	hsa-miR-4766-3p	CLIP-seq
MIRT2073812	hsa-miR-1291	CLIP-seq
MIRT2073813	hsa-miR-2467-5p	CLIP-seq
MIRT2073814	hsa-miR-3151	CLIP-seq
MIRT2073815	hsa-miR-3188	CLIP-seq
MIRT2073816	hsa-miR-328	CLIP-seq
MIRT1250061	hsa-miR-3620	CLIP-seq
MIRT2073817	hsa-miR-3975	CLIP-seq
MIRT2073818	hsa-miR-4527	CLIP-seq
MIRT2073819	hsa-miR-4649-3p	CLIP-seq
MIRT2073820	hsa-miR-4663	CLIP-seq
MIRT2073821	hsa-miR-485-5p	CLIP-seq
MIRT2073822	hsa-miR-767-3p	CLIP-seq
MIRT2300652	hsa-miR-1228	CLIP-seq
MIRT2300653	hsa-miR-3157-5p	CLIP-seq
MIRT2300654	hsa-miR-329	CLIP-seq
MIRT2300655	hsa-miR-362-3p	CLIP-seq
MIRT2300656	hsa-miR-4264	CLIP-seq
MIRT2300657	hsa-miR-4691-3p	CLIP-seq
MIRT2300658	hsa-miR-4699-5p	CLIP-seq
MIRT2300659	hsa-miR-4797-3p	CLIP-seq
MIRT2300660	hsa-miR-512-5p	CLIP-seq
MIRT2300661	hsa-miR-642b	CLIP-seq
MIRT2300652	hsa-miR-1228	CLIP-seq
MIRT2300654	hsa-miR-329	CLIP-seq
MIRT2300655	hsa-miR-362-3p	CLIP-seq
MIRT2300658	hsa-miR-4699-5p	CLIP-seq
MIRT2300661	hsa-miR-642b	CLIP-seq
MIRT2300652	hsa-miR-1228	CLIP-seq
MIRT2688368	hsa-miR-1289	CLIP-seq
MIRT2300653	hsa-miR-3157-5p	CLIP-seq
MIRT2688369	hsa-miR-3198	CLIP-seq
MIRT2300654	hsa-miR-329	CLIP-seq
MIRT2300655	hsa-miR-362-3p	CLIP-seq
MIRT2688370	hsa-miR-3692	CLIP-seq
MIRT2688371	hsa-miR-4257	CLIP-seq
MIRT2300656	hsa-miR-4264	CLIP-seq
MIRT2688372	hsa-miR-4294	CLIP-seq
MIRT2688373	hsa-miR-4309	CLIP-seq
MIRT2688374	hsa-miR-4330	CLIP-seq
MIRT2300657	hsa-miR-4691-3p	CLIP-seq
MIRT2300658	hsa-miR-4699-5p	CLIP-seq
MIRT2688375	hsa-miR-4728-5p	CLIP-seq
MIRT2300659	hsa-miR-4797-3p	CLIP-seq
MIRT2300660	hsa-miR-512-5p	CLIP-seq
MIRT2300661	hsa-miR-642b	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:0000030	Function	Mannosyltransferase activity	TAS	10366449
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0004169	Function	Dolichyl-phosphate-mannose-protein mannosyltransferase activity	IBA
GO:0004169	Function	Dolichyl-phosphate-mannose-protein mannosyltransferase activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	TAS	10366449
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	14699049
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006486	Process	Protein glycosylation	IEA
GO:0006493	Process	Protein O-linked glycosylation	IEA
GO:0006493	Process	Protein O-linked glycosylation	TAS	10366449
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	10366449
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0031502	Component	Dolichyl-phosphate-mannose-protein mannosyltransferase complex	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

Other IDs

• MIM: 607423
• HGNC: 9202
• e!Ensembl: ENSG00000130714

Protein

• UniProt ID: Q9Y6A1
• Protein name: Protein O-mannosyl-transferase 1 (EC 2.4.1.109) (Dolichyl-phosphate-mannose--protein mannosyltransferase 1)
• 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:12369018, PubMed:14699049
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02366	PMT	20 → 289	Dolichyl-phosphate-mannose-protein mannosyltransferase	Family
  PF02815	MIR	332 → 500	MIR domain	Domain
  PF16192	PMT_4TMC	542 → 740	C-terminal four TMM region of protein-O-mannosyltransferase	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Highly expressed in testis, heart and pancreas. Detected at lower levels in kidney, skeletal muscle, brain, placenta, lung and liver.
• Sequence:

  MWGFLKRPVVVTADINLSLVALTGMGLLSRLWRLTYPRAVVFDEVYYGQYISFYMKQIFF
  LDDSGPPFGHMVLALGGYLGGFDGNFLWNRIGAEYSSNVPVWSLRLLPALAGALSVPMAY
  QIVLELHFSHCAAMGAALLMLIENALITQSRLMLLESVLIFFNLLAVLSYLKFFNCQKHS
  PFSLSWWFWLTLTGVACSCAVGIKYMGVFTYVLVLGVAAVHAWHLLGDQTLSNVGADVQC
  CMRPACMGQMQMSQGVCVFCHLLARAVALLVIPVVLYLLFFYVHLILVFRSGPHDQIMSS
  AFQASLEGGLARITQGQPLEVAFGSQVTLRNVFGKPVPCWLHSHQDTYPMIYENGRGSSH
  QQQVTCYPFKDVNNWWIVKDPRRHQLVVSSPPRPVRHGDMVQLVHGMTTRSLNTHDVAAP
  LSPHSQEVSCYIDYNISMPAQNLWRLEIVNRGSDTDVWKTILSEVRFVHVNTSAVLKLSG
  AHLPDWGYRQLEIVGEKLSRGYHGSTVWNVEEHRYGASQEQRERERELHSPAQVDVSRNL
  SFMARFSELQWRMLALRSDDSEHKYSSSPLEWVTLDTNIAYWLHPRTSAQIHLLGNIVIW
  VSGSLALAIYALLSLWYLLRRRRNVHDLPQDAWLRWVLAGALCAGGWAVNYLPFFLMEKT
  LFLYHYLPALTFQILLLPVVLQHISDHLCRSQLQRSIFSALVVAWYSSACHVSNTLRPLT
  YGDKSLSPHELKALRWKDSWDILIRKH

• Sequence length: 747

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 brainstem morphology	Pathogenic	rs398124245	RCV001391256	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the musculature	Pathogenic	rs119462981	RCV001813941	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs119462982	RCV001813942	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive limb-girdle muscular dystrophy	Pathogenic; Likely pathogenic	rs200056620, rs398124244, rs2131751359, rs1554772469, rs1950265792, rs28941782, rs119462982, rs119462983, rs119462986, rs398124245, rs794727190, rs763586263, rs1032439203	RCV004689449 RCV005431467 RCV001553600 RCV004529018 RCV001844648 RCV005055501 RCV003234890 RCV005887254 RCV006262331 RCV003398430 RCV003230434 RCV002469286 RCV004702574	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive limb-girdle muscular dystrophy type 2K	Pathogenic; Likely pathogenic	rs200056620, rs398124244, rs398124247, rs760071332, rs746523421, rs2131588122, rs2131749139, rs2131751359, rs747129906, rs1554772469, rs1950265792, rs759848847, rs2131672013, rs2131554631, rs766648827, rs1472946513, rs2131554917, rs2131880195, rs1397478363, rs1222795311, rs1289335417, rs961071228, rs727502854, rs119462981, rs119462982, rs119462983, rs119462985, rs119462986, rs119462987, rs1051679985, rs587777819, rs398124245, rs766240294, rs794727190, rs794727208, rs1946102978, rs2539145885, rs1947244829, rs746247204, rs2539514312, rs1453773610, rs2539054352, rs2539148178, rs772370177, rs1950284130, rs376126988, rs578199793, rs1402329255, rs1258590241, rs749018170, rs1945764912, rs2539022148, rs778373035, rs2539397796, rs1564336750, rs2539060610, rs199927735, rs2539477272, rs1948107534, rs777149559, rs757761868, rs2539264453, rs2539476380, rs2539455086, rs2539021872, rs371821873, rs2539131729, rs1945826884, rs2539477949, rs1949320441, rs2539363727, rs2539418643, rs2539265508, rs2539473873, rs2539111862, rs2539114783, rs2539021943, rs2539474836, rs2539220743, rs1949455055, rs2539179036, rs1178838681, rs761848742, rs750195040, rs1554773974, rs1554773448, rs1554780670, rs746849558, rs397514501, rs397515400, rs765230689, rs1250351189, rs1564381395, rs1564365317, rs1564364615, rs763586263, rs1588375386, rs1588391612, rs1315540509, rs746823238, rs776988725, rs1032439203, rs746696167, rs1949626483, rs768144522, rs1947522752, rs1191391104, rs1949874222, rs1945827957, rs1948104184, rs1945782278, rs1945766589, rs900762841	RCV000686940 RCV001376971 RCV002513831 RCV001378932 RCV001377161 RCV001391024 RCV001388909 RCV003771694 RCV002544255 RCV003772194 RCV002034732 RCV001893866 RCV001894437 RCV001937387 RCV001964400 RCV002037840 RCV001993223 RCV002036317 RCV001949458 RCV001872394 RCV002019789 RCV003094035 RCV003764901 RCV003764521 RCV000003399 RCV002512705 RCV001851614 RCV003764522 RCV000694423 RCV001383583 RCV005041977 RCV000546035 RCV002595666 RCV002516666 RCV000704810 RCV003104711 RCV002645716 RCV002791664 RCV002815003 RCV002815007 RCV002846242 RCV002857255 RCV002891143 RCV002517157 RCV002957729 RCV003039275 RCV003779070 RCV005047604 RCV005864671 RCV005051311 RCV005047605 RCV005051312 RCV003779074 RCV005051313 RCV005051314 RCV003785381 RCV003783725 RCV003798174 RCV003795840 RCV003780596 RCV003781106 RCV003781107 RCV003789850 RCV003793280 RCV003780014 RCV003789429 RCV003806219 RCV003806741 RCV003806891 RCV003803374 RCV003800866 RCV003808697 RCV003804863 RCV003802423 RCV003817774 RCV003807309 RCV003807330 RCV003807421 RCV003812328 RCV003802574 RCV003810229 RCV003810451 RCV002525809 RCV000850367 RCV005049585 RCV003766974 RCV000548536 RCV000558807 RCV000032629 RCV000032630 RCV000763189 RCV002529346 RCV000648156 RCV004554817 RCV000703521 RCV000704477 RCV000799994 RCV001040545 RCV000791485 RCV000815478 RCV000811436 RCV001869305 RCV000988265 RCV001862754 RCV001071806 RCV001052576 RCV003769027 RCV001201840 RCV001205242 RCV001217576 RCV001228965 RCV001235411 RCV001225759 RCV003770344 RCV002537636	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dysgenesis of the cerebellar vermis	Pathogenic	rs1564325733, rs1945766589	RCV001257390 RCV001257391	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Limb-girdle muscular dystrophy due to POMK deficiency	Pathogenic	rs200056620	RCV002288580	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Pathogenic; Likely pathogenic	rs200056620, rs398124244, rs398124247, rs746523421, rs745509085, rs2131751359, rs2131708682, rs1554772469, rs1950265792, rs759848847, rs1472946513, rs1397478363, rs1222795311, rs1289335417, rs961071228, rs376882399, rs2131707009, rs28941782, rs119462981, rs587777817, rs587777818, rs119462982, rs119462983, rs119462985, rs119462987, rs1051679985, rs587777819, rs587777820, rs398124245, rs2539364366, rs766240294, rs794727190, rs794727208, rs745738628, rs2539148178, rs772370177, rs886041907, rs746161025, rs2539114080, rs578199793, rs759204703, rs1402329255, rs1949312996, rs2539221052, rs1258590241, rs1415890259, rs2539381136, rs2539132280, rs2539136286, rs749018170, rs1465496645, rs1945764912, rs2539060300, rs2539022148, rs778373035, rs2539514362, rs2539080991, rs2539453407, rs2539397796, rs2539478095, rs1489831148, rs1564336750, rs1564390684, rs2539454813, rs2539452586, rs2539477949, rs1949455055, rs777533386, rs1205172165, rs2539476287, rs2539132141, rs1949898946, rs761990380, rs2539366355, rs2539508443, rs2539378110, rs761848742, rs750195040, rs1554773974, rs1554780670, rs746849558, rs765230689, rs1250351189, rs1554778005, rs766648827, rs1564381395, rs1564364615, rs756973046, rs763586263, rs750453909, rs746823238, rs1032439203, rs746696167, rs768144522, rs1945827957, rs1945782278, rs900762841	RCV002498428 RCV003474682 RCV003474683 RCV003462945 RCV003474001 RCV003474006 RCV001844391 RCV005040388 RCV003475106 RCV003475152 RCV005050480 RCV003475244 RCV004571441 RCV003464372 RCV002250254 RCV002267187 RCV002267189 RCV000003394 RCV000003395 RCV000003396 RCV000003397 RCV003472966 RCV003460408 RCV005041976 RCV003460409 RCV003472967 RCV000003408 RCV000003410 RCV000003411 RCV003475391 RCV004572793 RCV004567379 RCV003474928 RCV003474929 RCV005045039 RCV000192686 RCV003475887 RCV003475575 RCV003463357 RCV003463358 RCV003463359 RCV003463360 RCV003463362 RCV003463363 RCV003471733 RCV003463364 RCV003471734 RCV003471735 RCV003463365 RCV003463366 RCV003463367 RCV003472483 RCV003472484 RCV003472486 RCV003472487 RCV003472489 RCV003472490 RCV003472491 RCV003472493 RCV003472494 RCV003472495 RCV003472496 RCV003472497 RCV003472499 RCV003472500 RCV004573332 RCV005040528 RCV003989918 RCV004574603 RCV004574604 RCV004574605 RCV004574606 RCV004574607 RCV004574608 RCV004574609 RCV004574610 RCV004594822 RCV003464000 RCV003476193 RCV005049585 RCV003476298 RCV003459248 RCV000763189 RCV003471973 RCV003459477 RCV003459544 RCV004554817 RCV002485867 RCV003465669 RCV003461048 RCV000790413 RCV000853233 RCV003461312 RCV003462625 RCV003473715 RCV004570568 RCV003473785 RCV001262622	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	Pathogenic; Likely pathogenic	rs200056620, rs398124244, rs398124247, rs760071332, rs746523421, rs2131588122, rs2131749139, rs1564395473, rs2131751359, rs747129906, rs1554772469, rs1950265792, rs759848847, rs2131672013, rs2131554631, rs766648827, rs1472946513, rs2131554917, rs2131880195, rs1397478363, rs1222795311, rs1289335417, rs961071228, rs727502854, rs119462981, rs119462982, rs119462983, rs119462985, rs119462986, rs119462987, rs1051679985, rs587777819, rs398124245, rs766240294, rs794727190, rs794727208, rs1946102978, rs2539145885, rs1947244829, rs746247204, rs2539514312, rs1453773610, rs2539054352, rs2539148178, rs772370177, rs1950284130, rs376126988, rs578199793, rs1402329255, rs749018170, rs1945764912, rs2539022148, rs778373035, rs2539397796, rs1564336750, rs2539060610, rs199927735, rs2539477272, rs1948107534, rs777149559, rs757761868, rs2539264453, rs2539476380, rs2539455086, rs2539021872, rs371821873, rs2539131729, rs1945826884, rs2539477949, rs1949320441, rs2539363727, rs2539418643, rs2539265508, rs2539473873, rs2539111862, rs2539114783, rs2539021943, rs2539474836, rs2539220743, rs1949455055, rs2539179036, rs1178838681, rs761848742, rs750195040, rs1554773974, rs1554773448, rs1554780670, rs746849558, rs777437871, rs765230689, rs1250351189, rs1564381395, rs1564341846, rs1564365317, rs1564364615, rs763586263, rs1588375386, rs1588391612, rs1315540509, rs746823238, rs1032439203, rs746696167, rs1949626483, rs768144522, rs1947522752, rs1191391104, rs1949874222, rs1945827957, rs1948104184, rs1945782278, rs1945766589, rs900762841	RCV000578428 RCV001376971 RCV002513831 RCV001378932 RCV001377161 RCV001391024 RCV001388909 RCV001420148 RCV003771694 RCV002544255 RCV003772194 RCV002034732 RCV001893866 RCV001894437 RCV001937387 RCV001964400 RCV002037840 RCV001993223 RCV002036317 RCV001949458 RCV001872394 RCV002019789 RCV003094035 RCV003764901 RCV003764521 RCV001385876 RCV002512705 RCV001851614 RCV002286391 RCV000694423 RCV001383583 RCV000587199 RCV000546035 RCV002595666 RCV002516666 RCV000704810 RCV003104711 RCV002645716 RCV002791664 RCV002815003 RCV002815007 RCV002846242 RCV002857255 RCV002891143 RCV002517157 RCV002957729 RCV003039275 RCV003779070 RCV005047604 RCV005051311 RCV005047605 RCV005051312 RCV003779074 RCV005051313 RCV005051314 RCV003785381 RCV003783725 RCV003798174 RCV003795840 RCV003780596 RCV003781106 RCV003781107 RCV003789850 RCV003793280 RCV003780014 RCV003789429 RCV003806219 RCV003806741 RCV003806891 RCV003803374 RCV003800866 RCV003808697 RCV003804863 RCV003802423 RCV003817774 RCV003807309 RCV003807330 RCV003807421 RCV003812328 RCV003802574 RCV003810229 RCV003810451 RCV002525809 RCV001205238 RCV005049585 RCV003766974 RCV000548536 RCV000558807 RCV000578259 RCV000763189 RCV002529346 RCV000648156 RCV004554817 RCV000761585 RCV000703521 RCV000704477 RCV000799994 RCV001040545 RCV000791485 RCV000815478 RCV000811436 RCV001869305 RCV001862754 RCV001071806 RCV001052576 RCV003769027 RCV001201840 RCV001205242 RCV001217576 RCV001228965 RCV001235411 RCV001225759 RCV003770344 RCV002537636	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscular dystrophy-dystroglycanopathy, type C	Pathogenic	rs398124245	RCV003225921	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy caused by variation in POMT1	Pathogenic; Likely pathogenic	rs398124247, rs1564365317	RCV003314560 RCV006257315	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs746523421	RCV005912587	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
POMT1-related disorder	Likely pathogenic; Pathogenic	rs398124244, rs398124245, rs746161025	RCV004529856 RCV000778874 RCV004534404	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thymoma	Likely pathogenic; Pathogenic	rs961071228	RCV005930062	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs746523421	RCV005912588	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ventriculomegaly	Pathogenic	rs398124245	RCV001391256	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Walker-Warburg congenital muscular dystrophy	Pathogenic; Likely pathogenic	rs200056620, rs398124244, rs398124247, rs760071332, rs746523421, rs2131588122, rs2131749139, rs745509085, rs2131751359, rs747129906, rs1554772469, rs1950265792, rs759848847, rs2131672013, rs2131554631, rs766648827, rs1472946513, rs2131554917, rs2131880195, rs1397478363, rs1222795311, rs1289335417, rs961071228, rs727502854, rs119462981, rs119462982, rs119462983, rs119462985, rs119462986, rs119462987, rs1051679985, rs398124245, rs766240294, rs794727190, rs794727208, rs1946102978, rs2539145885, rs1947244829, rs746247204, rs2539514312, rs1453773610, rs2539054352, rs2539148178, rs772370177, rs1950284130, rs376126988, rs578199793, rs1402329255, rs749018170, rs1945764912, rs778373035, rs2539060610, rs199927735, rs2539477272, rs1948107534, rs777149559, rs757761868, rs2539264453, rs2539476380, rs2539455086, rs2539021872, rs371821873, rs2539131729, rs1945826884, rs2539477949, rs1949320441, rs2539363727, rs2539418643, rs2539265508, rs2539473873, rs2539111862, rs2539114783, rs2539021943, rs2539474836, rs2539220743, rs1949455055, rs2539179036, rs1178838681, rs1945770086, rs761848742, rs750195040, rs1554773448, rs1554780670, rs746849558, rs765230689, rs1250351189, rs1564365317, rs1564364615, rs763586263, rs1588375386, rs1588391612, rs1315540509, rs746823238, rs1032439203, rs746696167, rs1949626483, rs768144522, rs1947522752, rs1191391104, rs1949874222, rs1945827957, rs1948104184, rs1945782278, rs1945766589, rs900762841	RCV000686940 RCV001376971 RCV002513831 RCV001378932 RCV001377161 RCV001391024 RCV001388909 RCV001449743 RCV003771694 RCV002544255 RCV003772194 RCV002034732 RCV001893866 RCV001894437 RCV001937387 RCV001964400 RCV002037840 RCV001993223 RCV002036317 RCV001949458 RCV001872394 RCV002019789 RCV003094035 RCV003764901 RCV003764521 RCV001385876 RCV002512705 RCV001851614 RCV003764522 RCV000694423 RCV001383583 RCV000546035 RCV002595666 RCV002516666 RCV000704810 RCV003104711 RCV002645716 RCV002791664 RCV002815003 RCV002815007 RCV002846242 RCV002857255 RCV002891143 RCV002517157 RCV002957729 RCV003039275 RCV003779070 RCV003779071 RCV003779072 RCV003779073 RCV003779074 RCV003785381 RCV003783725 RCV003798174 RCV003795840 RCV003780596 RCV003781106 RCV003781107 RCV003789850 RCV003793280 RCV003780014 RCV003789429 RCV003806219 RCV003806741 RCV003806891 RCV003803374 RCV003800866 RCV003808697 RCV003804863 RCV003802423 RCV003817774 RCV003807309 RCV003807330 RCV003807421 RCV003812328 RCV003802574 RCV003810229 RCV003810451 RCV004018306 RCV002525809 RCV001205238 RCV003766974 RCV000548536 RCV000558807 RCV003767405 RCV000608987 RCV000648156 RCV000703521 RCV000704477 RCV000799994 RCV001040545 RCV000791485 RCV000815478 RCV000811436 RCV001869305 RCV001862754 RCV001071806 RCV001052576 RCV003769027 RCV001201840 RCV001205242 RCV001217576 RCV001228965 RCV001235411 RCV001225759 RCV003770344 RCV002537636	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely 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
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar ataxia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT UPPER LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE UNILATERAL CLEFT LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital muscular dystrophy	Benign; Likely benign; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
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
CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, PYRIDOXINE-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAM157B-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gait disturbance	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign; -; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LIMB-GIRDLE MUSCULAR DYSTROPHY AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-girdle muscular dystrophy, recessive	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LISSENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACROGYRIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	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
MUSCULAR DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POMT1-related congenital myopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Poor speech	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pyridoxine-dependent epilepsy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensory neuropathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Severe global developmental delay	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ 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
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	CLINVAR_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
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	22549409	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	18647264		★☆☆☆☆ Found in Text Mining only
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	BEFREE	16575835, 18513969, 22549409, 24556424		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	22549409		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	22549409	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Dilated cardiomyopathy	Pubtator	22549409	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	BEFREE	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
Cognition Disorders	Cognition disorder	Pubtator	31311558	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	34565739	Associate	★☆☆☆☆ Found in Text Mining only
Complement Component C1s Deficiency	Complement component deficiency	Pubtator	28157257	Associate	★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	CLINVAR_DG			★☆☆☆☆ 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 kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital meningocele	Congenital Meningocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital microcephaly	Congenital Microcephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital Microtia	Congenital microtia	Pubtator	30691450	Associate	★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	BEFREE	12966029, 16575835, 18513969, 22499106, 22549409, 24491487, 27193224		★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	CLINVAR_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 muscular dystrophy without intellectual disability	Congenital Muscular Dystrophy Without 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
Cortical Dysplasia	Cortical Dysplasia	BEFREE	18513969		★☆☆☆☆ Found in Text Mining only
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	Craniometaphyseal Dysplasia	BEFREE	16575835, 18513969, 22549409, 24556424		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalocele	Encephalocele	Pubtator	31311558	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	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Generalized amyotrophy	Amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	24657014		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ 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	BEFREE	31311558		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	31311558	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
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	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	16575835, 16717220, 18513969, 22549409, 24556424, 27193224		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	LHGDN	18513969		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	22549409, 34565739	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Irido-corneo-trabecular dysgenesis (disorder)	Anterior segment dysgenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Limb-girdle muscle atrophy	Limb-girdle muscle atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Limb-girdle muscular dystrophy type 2A	Limb-girdle muscular dystrophy	BEFREE	15792865		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development Group II	Cortical development malformation	Pubtator	12369018, 28953922	Associate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	12369018		★☆☆☆☆ Found in Text Mining only
Meningoencephalocele	Meningoencephalocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	16575835, 16717220, 18513969, 22549409, 24556424, 27193224		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	18513969, 22549409		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	LHGDN	18513969		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	31311558	Associate	★☆☆☆☆ 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	BEFREE	15792865		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Muscle eye brain disease	Muscle Eye Brain Disease	BEFREE	12925572		★★☆☆☆ 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	15792865, 16717220, 17878207, 21496628, 22549409, 24491487, 24556424, 25088310, 27193224		★☆☆☆☆ 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	19067344, 20234391, 24657014, 25088310, 28157257, 30454682, 31311558		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K	Limb-girdle muscular dystrophy	CLINVAR_DG	12369018, 15637732, 16575835, 16717220, 17559086, 17869517, 17878207, 18752264, 20816175, 22323514, 22549409, 24304607, 24491487, 28116189		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K	Limb-girdle muscular dystrophy	GENOMICS_ENGLAND_DG	14678799, 27421908, 27604308		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K	Limb-girdle muscular dystrophy	UNIPROT_DG	15792865		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K	Limb-girdle muscular dystrophy	BEFREE	16717220		★☆☆☆☆ Found in Text Mining only
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	GENOMICS_ENGLAND_DG	12369018, 14678799, 15037715, 19299310, 27421908, 27604308		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1	Muscular Dystrophy-Dystroglycanopathy	UNIPROT_DG	12369018, 15037715, 15637732, 16575835		★☆☆☆☆ 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, 1	Muscular Dystrophy-Dystroglycanopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	Muscular Dystrophy-Dystroglycanopathy	CLINVAR_DG	12369018, 15637732, 16575835, 16717220, 17559086, 17869517, 17878207, 18752264, 20816175, 22323514, 22549409, 24304607, 24491487, 28116189		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	Muscular Dystrophy-Dystroglycanopathy	GENOMICS_ENGLAND_DG	14678799, 27421908, 27604308		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	Muscular Dystrophy-Dystroglycanopathy	UNIPROT_DG	16575835, 16717220, 19299310		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	Muscular Dystrophy-Dystroglycanopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	29346494	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	20234391, 31627234		★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Occipital Encephalocele	Occipital Encephalocele	BEFREE	31311558		★☆☆☆☆ 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
POMT1-related limb-girdle muscular dystrophy R11	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
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	CLINVAR_DG			★☆☆☆☆ 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
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Submucous cleft of hard palate	Submucosal cleft palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Walker-Warburg congenital muscular dystrophy	Walker-Warburg Congenital Muscular Dystrophy	BEFREE	12369018, 12757935, 12788039, 12925572, 15037715, 15351017, 15383666, 15522202, 15637732, 15792865, 16575835, 16717220, 17079174, 17161965, 18513969, 18640039, 19639522, 20065251, 24491487, 24556424, 25308318, 27193224, 31311558		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Walker-Warburg congenital muscular dystrophy	Walker-Warburg Congenital Muscular Dystrophy	CLINVAR_DG	12369018, 15637732, 16575835, 16717220, 17559086, 17869517, 17878207, 18752264, 20816175, 22323514, 22549409, 24304607, 24491487, 28116189		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Walker-Warburg congenital muscular dystrophy	Walker-Warburg Congenital Muscular Dystrophy	ORPHANET_DG	19880378		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Walker-Warburg congenital muscular dystrophy	Walker-Warburg Congenital Muscular Dystrophy	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Walker-Warburg syndrome	Walker-Warburg Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations