ANO5 (anoctamin 5)

Gene

• Entrez ID: 203859
• Gene name: Anoctamin 5
• Gene symbol: ANO5
• Synonyms (NCBI Gene): GDD1, LGMD2L, LGMDR12, TMEM16E
• Chromosome: 11
• Chromosome location: 11p14.3
• Summary: This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34994927	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs119103234	T>C,G	Not-provided, pathogenic	Coding sequence variant, missense variant
rs137854521	->A	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs137854523	G>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs137854524	C>G	Pathogenic	Coding sequence variant, missense variant
rs137854526	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs137854527	A>G	Pathogenic	Coding sequence variant, missense variant
rs137854528	CA>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs137854529	C>T	Pathogenic	Coding sequence variant, missense variant
rs139618850	G>A	Uncertain-significance, affects	Coding sequence variant, missense variant
rs140903276	G>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs142027093	G>A	Pathogenic	Splice donor variant
rs142073798	T>A,G	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs142858990	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs143331003	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs143777403	A>G,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs143977836	TTTT>-,TT	Conflicting-interpretations-of-pathogenicity	Intron variant
rs145127621	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs146341538	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs147121216	G>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs148293985	A>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs148516756	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs188150039	C>A,T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs199501657	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs199888040	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs201725369	C>G,T	Pathogenic, pathogenic-likely-pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs202034123	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs281865464	G>A	Pathogenic	Intron variant
rs281865467	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs281865480	->A	Pathogenic	Coding sequence variant, frameshift variant
rs368970223	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs369103376	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs372221490	G>A	Pathogenic, likely-pathogenic	Splice donor variant
rs375014127	G>A,T	Uncertain-significance, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs377549896	C>G,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs397514736	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs398124625	G>A	Pathogenic	Splice acceptor variant
rs398124626	->T	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs529961953	C>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs541372136	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs561719071	G>A	Pathogenic, likely-pathogenic	Splice acceptor variant
rs563666662	A>G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs566415362	C>G,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs747719953	C>A,G,T	Pathogenic, likely-pathogenic	Stop gained, synonymous variant, coding sequence variant, missense variant
rs749645231	C>T	Pathogenic	Stop gained, coding sequence variant
rs752982710	G>-	Uncertain-significance, likely-pathogenic	Splice acceptor variant
rs753138577	C>G	Pathogenic	Stop gained, coding sequence variant
rs754889480	C>G,T	Pathogenic, likely-benign	Stop gained, synonymous variant, coding sequence variant
rs759064817	->A	Pathogenic	Coding sequence variant, frameshift variant
rs762035813	C>A,T	Pathogenic-likely-pathogenic	Synonymous variant, coding sequence variant, stop gained, 5 prime UTR variant
rs765262083	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs765427574	G>A	Pathogenic	Coding sequence variant, stop gained
rs770694933	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs773736505	A>G	Likely-pathogenic	Splice acceptor variant
rs776474397	A>G	Likely-pathogenic	Splice acceptor variant
rs776859202	AAAGA>-	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs780109230	G>A	Likely-pathogenic	Splice acceptor variant
rs781027702	C>A,G,T	Pathogenic-likely-pathogenic, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs794727158	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs794727231	TCATAGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs794727350	TTC>-	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Inframe deletion, coding sequence variant
rs794727745	CAAAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs797044667	->A	Pathogenic, uncertain-significance	Frameshift variant, coding sequence variant
rs868484837	G>-	Pathogenic-likely-pathogenic, likely-pathogenic	Splice acceptor variant, intron variant
rs878854367	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs886042442	G>A	Pathogenic	Splice donor variant
rs886042556	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs886043074	G>T	Pathogenic	Stop gained, coding sequence variant
rs886043172	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs886043327	TTAACTTAACA>-	Pathogenic-likely-pathogenic	Splice acceptor variant, intron variant
rs886044020	GA>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs886044915	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518855	->T	Likely-pathogenic	Splice donor variant
rs1064793358	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1168346560	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1302414683	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1323349209	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs1335126943	G>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs1364860348	T>A,C	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs1380525804	C>G,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1403946332	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs1458677325	GATT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1488095558	C>T	Pathogenic	Stop gained, coding sequence variant
rs1554924356	G>T	Pathogenic	Coding sequence variant, stop gained
rs1554927050	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1554929292	T>C	Pathogenic	Coding sequence variant, missense variant
rs1554929301	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs1554930267	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554930314	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1554933716	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1564922516	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1564930625	C>T	Pathogenic	Coding sequence variant, stop gained
rs1564936489	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1590266227	A>T	Pathogenic	Coding sequence variant, stop gained
rs1590266513	->AGCC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1590300702	T>G	Likely-pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT441220	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT441220	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT785718	hsa-miR-140-5p	CLIP-seq
MIRT785719	hsa-miR-203	CLIP-seq
MIRT785720	hsa-miR-23a	CLIP-seq
MIRT785721	hsa-miR-23b	CLIP-seq
MIRT785722	hsa-miR-23c	CLIP-seq
MIRT785723	hsa-miR-24	CLIP-seq
MIRT785724	hsa-miR-3158-3p	CLIP-seq
MIRT785725	hsa-miR-3545-5p	CLIP-seq
MIRT785726	hsa-miR-4264	CLIP-seq
MIRT785727	hsa-miR-4437	CLIP-seq
MIRT785728	hsa-miR-4446-3p	CLIP-seq
MIRT785729	hsa-miR-4460	CLIP-seq
MIRT785730	hsa-miR-4704-3p	CLIP-seq
MIRT785731	hsa-miR-4753-3p	CLIP-seq
MIRT785732	hsa-miR-622	CLIP-seq
MIRT785733	hsa-miR-1246	CLIP-seq
MIRT785734	hsa-miR-3616-5p	CLIP-seq
MIRT785735	hsa-miR-3647-5p	CLIP-seq
MIRT785736	hsa-miR-382	CLIP-seq
MIRT785737	hsa-miR-431	CLIP-seq
MIRT785738	hsa-miR-4320	CLIP-seq
MIRT785739	hsa-miR-4511	CLIP-seq
MIRT785740	hsa-miR-4635	CLIP-seq
MIRT785741	hsa-miR-4699-3p	CLIP-seq
MIRT785742	hsa-miR-4768-5p	CLIP-seq
MIRT785743	hsa-miR-548ac	CLIP-seq
MIRT785744	hsa-miR-548ad	CLIP-seq
MIRT785745	hsa-miR-548ae	CLIP-seq
MIRT785746	hsa-miR-548aj	CLIP-seq
MIRT785747	hsa-miR-548am	CLIP-seq
MIRT785748	hsa-miR-548b-3p	CLIP-seq
MIRT785749	hsa-miR-548d-3p	CLIP-seq
MIRT785750	hsa-miR-548x	CLIP-seq
MIRT785751	hsa-miR-548z	CLIP-seq
MIRT785752	hsa-miR-573	CLIP-seq
MIRT1931795	hsa-miR-1305	CLIP-seq
MIRT1931796	hsa-miR-3163	CLIP-seq
MIRT1931795	hsa-miR-1305	CLIP-seq
MIRT2172258	hsa-miR-3920	CLIP-seq
MIRT2172259	hsa-miR-124	CLIP-seq
MIRT2172260	hsa-miR-3180-5p	CLIP-seq
MIRT2172261	hsa-miR-506	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001778	Process	Plasma membrane repair	IMP	33496727
GO:0005229	Function	Intracellularly calcium-gated chloride channel activity	IDA	22075693
GO:0005229	Function	Intracellularly calcium-gated chloride channel activity	IDA	22946059
GO:0005254	Function	Chloride channel activity	IBA
GO:0005254	Function	Chloride channel activity	TAS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	22946059
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0016020	Component	Membrane	IEA
GO:0031982	Component	Vesicle	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0046983	Function	Protein dimerization activity	IEA
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1902476	Process	Chloride transmembrane transport	IDA	22946059

Other IDs

• MIM: 608662
• HGNC: 27337
• e!Ensembl: ENSG00000171714

Protein

• UniProt ID: Q75V66
• Protein name: Anoctamin-5 (Gnathodiaphyseal dysplasia 1 protein) (Transmembrane protein 16E)
• Protein function: Plays a role in plasma membrane repair in a process involving annexins (PubMed:33496727). Does not exhibit calcium-activated chloride channel (CaCC) activity. {ECO:0000269|PubMed:20056604, ECO:0000269|PubMed:23047743, ECO:0000269|PubMed:33496727
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16178	Anoct_dimer	72 → 289	Dimerisation domain of Ca+-activated chloride-channel, anoctamin	Family
  PF04547	Anoctamin	292 → 868	Calcium-activated chloride channel	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in brain, heart, kidney, lung, and skeletal muscle. Weakly expressed in bone marrow, fetal liver, placenta, spleen, thymus, osteoblasts and periodontal ligament cells. {ECO:0000269|PubMed:15067359, ECO:0000269|PubMed:1
• Sequence:

  MGDPDLLEVLAEEGEKVNKHIDYSFQMSEQSLSSRETSFLINEETMPAKRFNLFLRRRLM
  FQKNQQSKDSIFFRDGIRQIDFVLSYVDDVKKDAELKAERRKEFETNLRKTGLELEIEDK
  RDSEDGRTYFVKIHAPWEVLVTYAEVLGIKMPIKESDIPRPKHTPISYVLGPVRLPLSVK
  YPHPEYFTAQFSRHRQELFLIEDQATFFPSSSRNRIVYYILSRCPFGIEDGKKRFGIERL
  LNSNTYSSAYPLHDGQYWKPSEPPNPTNERYTLHQNWARFSYFYKEQPLDLIKNYYGEKI
  GIYFVFLGFYTEMLFFAAVVGLACFIYGLLSMEHNTSSTEICDPEIGGQMIMCPLCDQVC
  DYWRLNSTCLASKFSHLFDNESTVFFAIFMGIWVTLFLEFWKQRQARLEYEWDLVDFEEE
  QQQLQLRPEFEAMCKHRKLNAVTKEMEPYMPLYTRIPWYFLSGATVTLWMSLVVTSMVAV
  IVYRLSVFATFASFMESDASLKQVKSFLTPQITTSLTGSCLNFIVILILNFFYEKISAWI
  TKMEIPRTYQEYESSLTLKMFLFQFVNFYSSCFYVAFFKGKFVGYPGKYTYLFNEWRSEE
  CDPGGCLIELTTQLTIIMTGKQIFGNIKEAIYPLALNWWRRRKARTNSEKLYSRWEQDHD
  LESFGPLGLFYEYLETVTQFGFVTLFVASFPLAPLLALINNIVEIRVDAWKLTTQYRRTV
  ASKAHSIGVWQDILYGMAVLSVATNAFIVAFTSDIIPRLVYYYAYSTNATQPMTGYVNNS
  LSVFLIADFPNHTAPSEKRDFITCRYRDYRYPPDDENKYFHNMQFWHVLAAKMTFIIVME
  HVVFLVKFLLAWMIPDVPKDVVERIKREKLMTIKILHDFELNKLKENLGINSNEFAKHVM
  IEENKAQLAKSTL

• Sequence length: 913

Pathways

KEGG:

Efferocytosis

Reactome:

Stimuli-sensing channels

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of the musculature	Likely pathogenic; Pathogenic	rs137854526, rs201725369, rs776859202	RCV001814063 RCV001814090 RCV001814138	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Achilles tendon contracture	Pathogenic	rs137854521	RCV000627021	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acute rhabdomyolysis	Likely pathogenic; Pathogenic	rs137854523	RCV005865150	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ANO5 Muscle Disease	Pathogenic	rs137854529	RCV005249979	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ANO5-related disorder	Pathogenic; Likely pathogenic	rs137854524, rs137854521, rs137854523, rs201725369, rs566415362, rs142073798, rs770694933	RCV004732524 RCV000778317 RCV000369126 RCV004732749 RCV004541281 RCV000778320 RCV004527671	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ANO5-related muscular dystrophy	Pathogenic	rs137854521	RCV003332991	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive limb-girdle muscular dystrophy	Likely pathogenic; Pathogenic	rs199501657, rs398124626, rs137854527, rs137854524, rs137854521, rs137854523, rs137854529, rs794727158, rs142027093, rs794727350, rs201725369, rs794727745, rs776859202, rs139618850, rs142073798, rs886043172, rs886044020, rs1168346560, rs912174567, rs561719071, rs1564930625	RCV004700398 RCV004998217 RCV004998250 RCV003234889 RCV002307353 RCV003993730 RCV004998071 RCV003479044 RCV005864458 RCV004998373 RCV002282002 RCV004786492 RCV004999194 RCV003323487 RCV005355594 RCV004525917 RCV005600894 RCV005000183 RCV006264055 RCV003117452 RCV004800563	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive limb-girdle muscular dystrophy type 2L	Likely pathogenic; Pathogenic	rs199501657, rs398124625, rs398124626, rs766994696, rs2133747657, rs146341538, rs368389717, rs139639078, rs2133589044, rs2133702263, rs2133747497, rs2133795361, rs746738154, rs747719953, rs747146523, rs1853968715, rs2133750487, rs1191668273, rs794727981, rs2133704072, rs1486335553, rs2133663216, rs373814281, rs2133730668, rs139344099, rs1187569251, rs570341380, rs137854526, rs137854527, rs1308707703, rs1852640009, rs137854524, rs137854521, rs137854523, rs137854529, rs1853786211, rs2494306436, rs1852874979, rs794727158, rs2494363622, rs142027093, rs794727231, rs797044667, rs794727350, rs201725369, rs2494319481, rs868734578, rs758847803, rs2494319408, rs2494261439, rs760137559, rs372221490, rs566415362, rs2494118752, rs2494324095, rs2494318394, rs2494141839, rs878854367, rs760033003, rs776859202, rs139618850, rs142073798, rs886043172, rs368970223, rs281865480, rs886043327, rs886044020, rs770694933, rs1415324050, rs201463445, rs1590331573, rs2494305988, rs2494790954, rs2494261394, rs1853361649, rs1852636503, rs2494386440, rs1853966406, rs2494324455, rs1064793358, rs563666662, rs1403946332, rs1380525804, rs1168346560, rs912174567, rs1554924356, rs281865464, rs137854528, rs1554930267, rs753138577, rs188150039, rs1554929301, rs561719071, rs749645231, rs773736505, rs1554930314, rs759064817, rs780109230, rs1564930625, rs1488095558, rs1302414683, rs762035813, rs762946781, rs1564936489, rs1564918396, rs1590266227, rs1458677325, rs1364860348, rs754889480, rs1590300702, rs1233836740, rs780201679, rs762874007, rs1854126127, rs1852871649, rs1383346134, rs375867377	RCV001377409 RCV000176019 RCV000509090 RCV001390467 RCV001385937 RCV001389595 RCV002034569 RCV005225497 RCV001787237 RCV001794938 RCV001904190 RCV001968909 RCV001978757 RCV001995240 RCV001972639 RCV001915793 RCV001971059 RCV001887501 RCV001892278 RCV002037879 RCV001999983 RCV001900536 RCV001946654 RCV002008654 RCV001961568 RCV002040151 RCV001983040 RCV000405473 RCV000645348 RCV001890542 RCV001963575 RCV002288280 RCV000002246 RCV000002248 RCV000002249 RCV000032966 RCV003058294 RCV003058295 RCV003076248 RCV000706748 RCV002632405 RCV000627783 RCV001852151 RCV003765088 RCV000645349 RCV000178420 RCV002586991 RCV002705861 RCV002819827 RCV002847045 RCV002857138 RCV002913356 RCV000201014 RCV000201148 RCV003017019 RCV003046242 RCV003019486 RCV003034373 RCV000233000 RCV003778733 RCV000509433 RCV000758149 RCV000645350 RCV000700782 RCV000691930 RCV000327025 RCV003765638 RCV000331633 RCV001859686 RCV001215385 RCV003340788 RCV003783561 RCV003781215 RCV003787818 RCV003793910 RCV003790822 RCV003799705 RCV003801273 RCV003800547 RCV003817708 RCV003813459 RCV000812498 RCV000691138 RCV000516073 RCV000560191 RCV000545507 RCV000535657 RCV000527894 RCV000032553 RCV000032554 RCV001854062 RCV003767406 RCV000754754 RCV000800226 RCV001860483 RCV000645351 RCV000645355 RCV000663413 RCV000664069 RCV000701545 RCV000690282 RCV001855768 RCV001855686 RCV003768226 RCV005213380 RCV001240637 RCV000757942 RCV003768423 RCV000805467 RCV000798082 RCV000855428 RCV000855432 RCV001004964 RCV001004953 RCV005225226 RCV001380381 RCV001223530 RCV001218905 RCV003770324 RCV001299170	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Distal muscle weakness	Likely pathogenic; Pathogenic	rs760137559	RCV000627022	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Elevated circulating creatine kinase concentration	Pathogenic; Likely pathogenic	rs137854521, rs886044915, rs776474397, rs760137559	RCV000627021 RCV000393148 RCV000515749 RCV000627022	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fatty replacement of skeletal muscle	Likely pathogenic; Pathogenic	rs760137559	RCV000627022	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gnathodiaphyseal dysplasia	Likely pathogenic; Pathogenic	rs199501657, rs398124625, rs398124626, rs766994696, rs2133747657, rs146341538, rs368389717, rs139639078, rs2133589044, rs2133747497, rs2133795361, rs746738154, rs747719953, rs747146523, rs1853968715, rs2133750487, rs1191668273, rs794727981, rs2133704072, rs1486335553, rs2133663216, rs373814281, rs2133730668, rs139344099, rs1187569251, rs570341380, rs137854526, rs137854527, rs1308707703, rs119103234, rs137854524, rs137854521, rs137854523, rs137854529, rs1853786211, rs2494306436, rs1852874979, rs794727158, rs2494363622, rs142027093, rs794727231, rs797044667, rs794727350, rs201725369, rs2494319481, rs868734578, rs758847803, rs2494319408, rs2494261439, rs760137559, rs372221490, rs566415362, rs2494118752, rs2494324095, rs2494318394, rs2494141839, rs878854367, rs760033003, rs776859202, rs139618850, rs142073798, rs886043172, rs368970223, rs281865480, rs886043327, rs886044020, rs770694933, rs201463445, rs1590331573, rs2494305988, rs2494790954, rs2494261394, rs1853361649, rs1852636503, rs2494386440, rs1853966406, rs2494324455, rs1057518855, rs1064793358, rs563666662, rs1554929292, rs1380525804, rs1168346560, rs912174567, rs1554924356, rs137854528, rs1554930267, rs753138577, rs1554929301, rs561719071, rs749645231, rs773736505, rs759064817, rs780109230, rs1564930625, rs1488095558, rs1302414683, rs762035813, rs762946781, rs1564918396, rs1590266227, rs1458677325, rs754889480, rs397514736, rs1335126943, rs1590266513, rs1590300702, rs1233836740, rs780201679, rs762874007, rs1854126127, rs1852871649, rs1383346134, rs375867377	RCV001377409 RCV000645359 RCV000509090 RCV001390467 RCV001385937 RCV001389595 RCV002034569 RCV005225497 RCV005213595 RCV001904190 RCV001968909 RCV001978757 RCV001995240 RCV001972639 RCV001915793 RCV001971059 RCV001887501 RCV001892278 RCV002037879 RCV001999983 RCV001900536 RCV001946654 RCV002008654 RCV001961568 RCV002040151 RCV001983040 RCV000405473 RCV000645348 RCV001890542 RCV001963575 RCV000002244 RCV000002245 RCV000762831 RCV000627781 RCV000627782 RCV000811162 RCV003058294 RCV003058295 RCV003076248 RCV000706748 RCV002632405 RCV000627783 RCV001852151 RCV003765088 RCV000645349 RCV000684805 RCV002586991 RCV002705861 RCV002819827 RCV002847045 RCV002857138 RCV002913356 RCV000823520 RCV001853222 RCV003017019 RCV003046242 RCV003019486 RCV003034373 RCV001853366 RCV003778733 RCV000509433 RCV000807697 RCV000645350 RCV000700782 RCV000691930 RCV000791428 RCV003765638 RCV001390092 RCV001859686 RCV001215385 RCV003783561 RCV003781215 RCV003787818 RCV003793910 RCV003790822 RCV003799705 RCV003801273 RCV003800547 RCV003817708 RCV003813459 RCV001196262 RCV000812498 RCV000691138 RCV000503034 RCV005208715 RCV000545507 RCV000535657 RCV000527894 RCV001383897 RCV001854062 RCV003767406 RCV000800226 RCV001860483 RCV000645351 RCV000645355 RCV003767924 RCV000701545 RCV000690282 RCV001855768 RCV001855686 RCV003768226 RCV005213380 RCV001240637 RCV003768423 RCV000805467 RCV000798082 RCV001858524 RCV000054502 RCV000988505 RCV000991438 RCV001862746 RCV001862743 RCV005225226 RCV001196016 RCV001223530 RCV001218905 RCV003770324 RCV001299170	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary fructosuria	Likely pathogenic; Pathogenic	rs137854523	RCV000825558	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs137854521	RCV001251667	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lower limb amyotrophy	Pathogenic	rs137854521	RCV000627021	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lower limb muscle weakness	Pathogenic	rs137854521	RCV000627021	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Miyoshi muscular dystrophy 3	Pathogenic; Likely pathogenic	rs768835530, rs398124626, rs2133589044, rs137854526, rs137854524, rs137854521, rs137854523, rs137854529, rs142027093, rs201725369, rs776859202, rs139618850, rs142073798, rs886043172, rs281865480, rs2494386556, rs1168346560, rs281865464, rs760137559, rs1564936489, rs754889480, rs1383346134	RCV001330859 RCV000509090 RCV005409837 RCV002464119 RCV000762831 RCV000002247 RCV000762830 RCV000002250 RCV000762832 RCV001254062 RCV000509433 RCV000758149 RCV002502129 RCV001333777 RCV001729507 RCV003314317 RCV000762829 RCV000032968 RCV005409691 RCV000757942 RCV003985437 RCV001254063	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscular dystrophy	Likely pathogenic; Pathogenic	rs368970223	RCV000664066	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Pathogenic; Likely pathogenic	rs137854521, rs1057518855	RCV000414931 RCV000414813	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs137854523	RCV005887208	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs137854523	RCV005887209	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polycystic kidney disease	Pathogenic	rs137854521	RCV000627021	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANO5-Related Muscle Diseases	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOCTAMIN-5-RELATED LIMB-GIRDLE MUSCULAR DYSTROPHY R12	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASYMPTOMATIC HYPERCKEMIA-MYALGIA-RHABDOMYOLYSIS SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL ANOCTAMINOPATHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-girdle muscular dystrophy	Conflicting classifications of pathogenicity	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; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Miyoshi myopathy	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE MYELOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, LEVIN TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHABDOMYOLYSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyloidosis	Amyloidosis	BEFREE	21820307		★☆☆☆☆ Found in Text Mining only
Anoctamin-5-related limb-girdle muscular dystrophy R12	Limb-Girdle Muscular Dystrophy	Orphanet			★☆☆☆☆ Found in Text Mining only
Atelosteogenesis type 2	Atelosteogenesis	Pubtator	28176803	Associate	★☆☆☆☆ Found in Text Mining only
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	23035061		★☆☆☆☆ Found in Text Mining only
BETHLEM MYOPATHY 1	Bethlem Myopathy	BEFREE	22980763, 23035061		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	27216912, 29175271	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	29124309		★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	29175271	Associate	★☆☆☆☆ Found in Text Mining only
Bundle Branch Block	Bundle branch block	Pubtator	33567613	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	23041008		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	37510237	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	23041008		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASDB_DG	18179892		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	19019316		★☆☆☆☆ Found in Text Mining only
Congenital genu recurvatum	Congenital genu recurvatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	BEFREE	19019316		★☆☆☆☆ Found in Text Mining only
Contracture of hamstring(s)	Contracture Of Hamstring	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal anoctaminopathy	Distal Anoctaminopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal Muscular Dystrophies	Distal Muscular Dystrophy	BEFREE	20692837, 22336395, 22402862, 22980764, 23663589, 23670307, 23721401, 31350120		★☆☆☆☆ Found in Text Mining only
Distal Myopathies	Distal myopathy	Pubtator	20692837, 37510237	Associate	★☆☆☆☆ Found in Text Mining only
Dysferlinopathy	Dysferlinopathy	Pubtator	21186264	Associate	★☆☆☆☆ Found in Text Mining only
Dysferlinopathy	Dysferlinopathy	BEFREE	23663589		★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Flexion contracture - wrist	Flexion Contracture Of Wrist	HPO_DG			★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	28902351		★☆☆☆☆ Found in Text Mining only
Fukuyama Type Congenital Muscular Dystrophy	Fukuyama Type Congenital Muscular Dystrophy	BEFREE	19019316		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	31931849	Associate	★☆☆☆☆ Found in Text Mining only
Gnathodiaphyseal dysplasia	Gnathodiaphyseal Dysplasia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Heart Diseases	Heart disease	Pubtator	26913919	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	37510237	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary fructose intolerance syndrome	Hereditary fructosuria	CLINVAR_DG	20096397, 22402862, 23041008, 23606453, 23663589, 23670307, 25891276		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	30235762	Associate	★☆☆☆☆ Found in Text Mining only
Limb-girdle muscular dystrophy type 2A	Limb-girdle muscular dystrophy	BEFREE	23670307, 25135358		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	28902351		★☆☆☆☆ Found in Text Mining only
Miyoshi Muscular Dystrophy 1	Miyoshi Muscular Dystrophy	BEFREE	20096397, 21496628, 26911675		★☆☆☆☆ Found in Text Mining only
Miyoshi Muscular Dystrophy 3	Miyoshi Muscular Dystrophy	BEFREE	20096397, 23607914, 30919934, 31350120		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Miyoshi Muscular Dystrophy 3	Miyoshi Muscular Dystrophy	UNIPROT_DG	20096397, 22499103		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Miyoshi Muscular Dystrophy 3	Miyoshi Muscular Dystrophy	GENOMICS_ENGLAND_DG	20096397, 25929793		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Miyoshi Muscular Dystrophy 3	Miyoshi Muscular Dystrophy	ORPHANET_DG	22980764		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Miyoshi Muscular Dystrophy 3	Miyoshi Muscular Dystrophy	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Miyoshi Muscular Dystrophy 3	Miyoshi Muscular Dystrophy	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Miyoshi myopathy	Miyoshi Myopathy	BEFREE	20096397, 21496628, 26911675		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscle eye brain disease	Muscle Eye Brain Disease	BEFREE	19019316		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	17044012, 19019316, 20096397, 21186264, 22336395, 22402862, 22499103, 22742934, 22980763, 23169617, 23606453, 23607914, 23663589, 23670307, 23721401, 23843187, 24639367, 24889862, 25094048, 25176504, 25891276, 28187523, 28214267, 29789544, 30235762, 30257928, 31350120, 31353849, 31395899, 31680776		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	GENOMICS_ENGLAND_DG	20096397		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	20096397, 21186264, 21642943, 21820307, 22402862, 22499103, 22980763, 23047743, 23663589, 23670307, 24239059, 25176504, 26911675, 28214267, 28489263, 29789544, 30320887		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular Dystrophy	Muscular dystrophy	CLINVAR_DG	25891276		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)	Limb-Girdle Muscular Dystrophy	BEFREE	20096397, 22499103		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)	Limb-Girdle Muscular Dystrophy	UNIPROT_DG	20096397, 22499103, 25864073, 25891276		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)	Limb-Girdle Muscular Dystrophy	CLINVAR_DG	20096397, 21186264, 21739273, 22194990, 22402862, 22499103, 22742934, 22980763, 23041008, 23530687, 23606453, 23607914, 23663589, 23670307, 24803842, 25135358, 25891276, 26404900, 27854218, 27862037, 27911336		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)	Limb-Girdle Muscular Dystrophy	GENOMICS_ENGLAND_DG	20096397, 25929793		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)	Limb-Girdle Muscular Dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	BEFREE	22980763		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	21820307, 22336395, 23041008, 23607914, 23663589, 23721401, 24639367, 25176504, 25891276, 26911675, 28187523, 30235762, 30257928, 31353849, 31395899, 31680776		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Myopathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasms	Neoplasms	BEFREE	27216912		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	22980763, 25135358		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	33567613	Associate	★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta Levin type	Osteogenesis imperfecta	Pubtator	23047743, 27068316, 27216912, 27541832, 28176803, 29175271, 30554457, 35758145	Associate	★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta, Levin type	Osteogenesis Imperfecta	BEFREE	15124103, 20005074, 20096397, 23047743, 23843187, 24891183, 27216912, 27541832, 28176803, 29124309, 29175271, 30554457, 30557634, 30712070		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta, Levin type	Osteogenesis Imperfecta	UNIPROT_DG	15124103, 23047743, 27216912		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta, Levin type	Osteogenesis Imperfecta	GENOMICS_ENGLAND_DG	20096397		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta, Levin type	Osteogenesis Imperfecta	CLINVAR_DG	20096397, 21186264, 21739273, 22194990, 22402862, 22499103, 22742934, 22980763, 23041008, 23530687, 23606453, 23607914, 23663589, 23670307, 24803842, 25135358, 25891276, 26404900, 27854218, 27862037, 27911336		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta, Levin type	Osteogenesis Imperfecta	ORPHANET_DG	23047743		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta, Levin type	Osteogenesis Imperfecta	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteomyelitis	Osteomyelitis	Pubtator	28176803	Associate	★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteomyelitis of mandible	Mandibular osteomyelitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	BEFREE	27541832		★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	Pubtator	27541832	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	28902351		★☆☆☆☆ Found in Text Mining only
Pelvic girdle muscle atrophy	Pelvic girdle muscle atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32027096	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyolysis	Rhabdomyolysis	Pubtator	25864073, 32978841	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoglycanopathies	Sarcoglycanopathy	BEFREE	23035061		★☆☆☆☆ Found in Text Mining only
Sclerosis	Sclerosis	Pubtator	37510237	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scott Syndrome	Scott Syndrome	BEFREE	21642943		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36157935	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid cancer, follicular	Thyroid cancer	BEFREE	28902351		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	28902351		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	28902351		★☆☆☆☆ Found in Text Mining only
Upper limb amyotrophy	Limb amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Walker-Warburg congenital muscular dystrophy	Walker-Warburg Congenital Muscular Dystrophy	BEFREE	19019316		★☆☆☆☆ Found in Text Mining only