FKRP (fukutin related protein)

Gene

• Entrez ID: 79147
• Gene name: Fukutin related protein
• Gene symbol: FKRP
• Synonyms (NCBI Gene): FKTR, LGMD2I, LGMDR9, MDC1C, MDDGA5, MDDGB5, MDDGC5
• Chromosome: 19
• Chromosome location: 19q13.32
• Summary: This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, cognitive disability, and cere

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28937900	C>A,T	Likely-pathogenic, pathogenic	Synonymous variant, coding sequence variant, missense variant
rs28937901	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs28937902	C>A	Pathogenic	Coding sequence variant, missense variant
rs28937903	C>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs28937904	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs28937905	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs104894679	A>G	Pathogenic	Coding sequence variant, missense variant
rs104894680	C>A,G,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant, stop gained
rs104894681	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104894682	T>A	Pathogenic, likely-pathogenic	Terminator codon variant, stop lost
rs104894683	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs104894684	G>A	Pathogenic	Coding sequence variant, missense variant
rs104894689	G>A	Pathogenic	Coding sequence variant, stop gained
rs104894691	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104894692	T>A	Not-provided, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121908110	A>G	Pathogenic	Coding sequence variant, missense variant
rs140084192	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs140679502	G>A,C,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs143129484	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs143793528	C>G	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201076863	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, synonymous variant, coding sequence variant
rs201454433	C>T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Synonymous variant, coding sequence variant
rs398124395	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs528000488	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs532054402	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs543163491	A>G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs552260353	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs563033008	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs565563742	T>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs587777223	A>G	Pathogenic	Initiator codon variant, missense variant
rs587777823	->ACCT	Pathogenic	Inframe indel, stop gained, coding sequence variant
rs587780334	G>C,T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs745774108	C>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs748087383	CG>-	Pathogenic	Frameshift variant, coding sequence variant
rs748798133	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs752582904	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs752731569	G>A,T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, missense variant
rs753811189	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs754403441	G>-,GG	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs755968761	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs759585825	G>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs761821795	C>T	Pathogenic	Coding sequence variant, stop gained
rs765885747	G>C,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs766339195	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs768007208	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs768606230	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs769005880	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs770711331	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs772950604	->T	Pathogenic	Coding sequence variant, stop gained
rs775681117	G>C	Pathogenic	Missense variant, coding sequence variant
rs878854376	TG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs886041004	GG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs886042506	->GGAG	Pathogenic	Frameshift variant, coding sequence variant
rs886043706	G>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs886043959	CC>-	Pathogenic	Frameshift variant, coding sequence variant
rs886044083	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs886044183	G>A,C,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, stop gained
rs886044496	CCCCGCTGGCCAC>C,G	Likely-pathogenic, uncertain-significance	Inframe indel, coding sequence variant, inframe deletion
rs1054339656	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs1057520771	C>A,G	Pathogenic	Coding sequence variant, stop gained
rs1057520772	A>C	Pathogenic	Coding sequence variant, missense variant
rs1060502109	C>A,G	Pathogenic	Coding sequence variant, stop gained
rs1191737604	C>-,CC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1247934219	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1290836394	->TGCGG	Pathogenic	Frameshift variant, coding sequence variant
rs1301397800	T>C	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1483781400	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1555738103	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555738149	->AGGCATTTGACAACGCG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555738201	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1555738204	->AGCCC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555738245	G>AT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555738311	GCGCC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555738456	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555738502	C>A,T	Likely-pathogenic, likely-benign	Coding sequence variant, synonymous variant, stop gained
rs1555738568	->CCCGC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555738651	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555738675	GGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555738686	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555738753	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1555738764	G>-,GGG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555738823	TTCGGCTGCAA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555738883	GC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555739041	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555739333	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1568418845	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1568419860	->GG	Pathogenic	Frameshift variant, coding sequence variant
rs1599937963	CGCGCTGCGCG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1599938271	GCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1599939853	G>A	Likely-pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029898	hsa-miR-26b-5p	Microarray	19088304
MIRT039217	hsa-miR-769-5p	CLASH	23622248
MIRT723610	hsa-miR-6729-3p	HITS-CLIP	19536157
MIRT723609	hsa-miR-1470	HITS-CLIP	19536157
MIRT723608	hsa-miR-4667-3p	HITS-CLIP	19536157
MIRT723607	hsa-miR-340-3p	HITS-CLIP	19536157
MIRT723606	hsa-miR-6827-3p	HITS-CLIP	19536157
MIRT723605	hsa-miR-4469	HITS-CLIP	19536157
MIRT723604	hsa-miR-7113-3p	HITS-CLIP	19536157
MIRT723603	hsa-miR-4287	HITS-CLIP	19536157
MIRT723602	hsa-miR-4685-3p	HITS-CLIP	19536157
MIRT723601	hsa-miR-3913-3p	HITS-CLIP	19536157
MIRT723600	hsa-miR-4513	HITS-CLIP	19536157
MIRT723599	hsa-miR-6855-3p	HITS-CLIP	19536157
MIRT723598	hsa-miR-6857-3p	HITS-CLIP	19536157
MIRT723597	hsa-miR-92b-5p	HITS-CLIP	19536157
MIRT723596	hsa-miR-6867-3p	HITS-CLIP	19536157
MIRT723595	hsa-miR-489-3p	HITS-CLIP	19536157
MIRT723594	hsa-miR-3136-5p	HITS-CLIP	19536157
MIRT723593	hsa-miR-4439	HITS-CLIP	19536157
MIRT723610	hsa-miR-6729-3p	HITS-CLIP	19536157
MIRT723609	hsa-miR-1470	HITS-CLIP	19536157
MIRT723608	hsa-miR-4667-3p	HITS-CLIP	19536157
MIRT723607	hsa-miR-340-3p	HITS-CLIP	19536157
MIRT723606	hsa-miR-6827-3p	HITS-CLIP	19536157
MIRT723605	hsa-miR-4469	HITS-CLIP	19536157
MIRT723604	hsa-miR-7113-3p	HITS-CLIP	19536157
MIRT723603	hsa-miR-4287	HITS-CLIP	19536157
MIRT723602	hsa-miR-4685-3p	HITS-CLIP	19536157
MIRT723601	hsa-miR-3913-3p	HITS-CLIP	19536157
MIRT723600	hsa-miR-4513	HITS-CLIP	19536157
MIRT723599	hsa-miR-6855-3p	HITS-CLIP	19536157
MIRT723598	hsa-miR-6857-3p	HITS-CLIP	19536157
MIRT723597	hsa-miR-92b-5p	HITS-CLIP	19536157
MIRT723596	hsa-miR-6867-3p	HITS-CLIP	19536157
MIRT723595	hsa-miR-489-3p	HITS-CLIP	19536157
MIRT723594	hsa-miR-3136-5p	HITS-CLIP	19536157
MIRT723593	hsa-miR-4439	HITS-CLIP	19536157
MIRT997893	hsa-miR-1178	CLIP-seq
MIRT997894	hsa-miR-1228	CLIP-seq
MIRT997895	hsa-miR-1913	CLIP-seq
MIRT997896	hsa-miR-3157-3p	CLIP-seq
MIRT997897	hsa-miR-324-3p	CLIP-seq
MIRT997898	hsa-miR-342-3p	CLIP-seq
MIRT997899	hsa-miR-3907	CLIP-seq
MIRT997900	hsa-miR-4731-5p	CLIP-seq
MIRT997901	hsa-miR-4749-3p	CLIP-seq
MIRT997902	hsa-let-7a	CLIP-seq
MIRT997903	hsa-let-7b	CLIP-seq
MIRT997904	hsa-let-7c	CLIP-seq
MIRT997905	hsa-let-7d	CLIP-seq
MIRT997906	hsa-let-7e	CLIP-seq
MIRT997907	hsa-let-7f	CLIP-seq
MIRT997908	hsa-let-7g	CLIP-seq
MIRT997909	hsa-let-7i	CLIP-seq
MIRT997910	hsa-miR-106a	CLIP-seq
MIRT997911	hsa-miR-106b	CLIP-seq
MIRT997912	hsa-miR-1224-3p	CLIP-seq
MIRT997913	hsa-miR-1234	CLIP-seq
MIRT997914	hsa-miR-1260	CLIP-seq
MIRT997915	hsa-miR-1260b	CLIP-seq
MIRT997916	hsa-miR-1263	CLIP-seq
MIRT997917	hsa-miR-1280	CLIP-seq
MIRT997918	hsa-miR-1291	CLIP-seq
MIRT997919	hsa-miR-1343	CLIP-seq
MIRT997920	hsa-miR-150	CLIP-seq
MIRT997921	hsa-miR-17	CLIP-seq
MIRT997922	hsa-miR-1827	CLIP-seq
MIRT997923	hsa-miR-1912	CLIP-seq
MIRT997924	hsa-miR-202	CLIP-seq
MIRT997925	hsa-miR-20a	CLIP-seq
MIRT997926	hsa-miR-20b	CLIP-seq
MIRT997927	hsa-miR-302a	CLIP-seq
MIRT997928	hsa-miR-302b	CLIP-seq
MIRT997929	hsa-miR-302c	CLIP-seq
MIRT997930	hsa-miR-302d	CLIP-seq
MIRT997931	hsa-miR-302e	CLIP-seq
MIRT997932	hsa-miR-3130-5p	CLIP-seq
MIRT997933	hsa-miR-3173-5p	CLIP-seq
MIRT997934	hsa-miR-3174	CLIP-seq
MIRT997935	hsa-miR-3615	CLIP-seq
MIRT997936	hsa-miR-3659	CLIP-seq
MIRT997937	hsa-miR-3665	CLIP-seq
MIRT997938	hsa-miR-3669	CLIP-seq
MIRT997939	hsa-miR-372	CLIP-seq
MIRT997940	hsa-miR-373	CLIP-seq
MIRT997941	hsa-miR-378g	CLIP-seq
MIRT997899	hsa-miR-3907	CLIP-seq
MIRT997942	hsa-miR-3917	CLIP-seq
MIRT997943	hsa-miR-4276	CLIP-seq
MIRT997944	hsa-miR-4437	CLIP-seq
MIRT997945	hsa-miR-4438	CLIP-seq
MIRT997946	hsa-miR-4458	CLIP-seq
MIRT997947	hsa-miR-4481	CLIP-seq
MIRT997948	hsa-miR-4482	CLIP-seq
MIRT997949	hsa-miR-4500	CLIP-seq
MIRT997950	hsa-miR-4503	CLIP-seq
MIRT997951	hsa-miR-4633-3p	CLIP-seq
MIRT997952	hsa-miR-4637	CLIP-seq
MIRT997953	hsa-miR-4649-3p	CLIP-seq
MIRT997954	hsa-miR-4658	CLIP-seq
MIRT997955	hsa-miR-4674	CLIP-seq
MIRT997956	hsa-miR-4678	CLIP-seq
MIRT997900	hsa-miR-4731-5p	CLIP-seq
MIRT997957	hsa-miR-4734	CLIP-seq
MIRT997958	hsa-miR-4742-3p	CLIP-seq
MIRT997959	hsa-miR-4745-5p	CLIP-seq
MIRT997960	hsa-miR-4758-5p	CLIP-seq
MIRT997961	hsa-miR-4773	CLIP-seq
MIRT997962	hsa-miR-4803	CLIP-seq
MIRT997963	hsa-miR-489	CLIP-seq
MIRT997964	hsa-miR-5095	CLIP-seq
MIRT997965	hsa-miR-512-3p	CLIP-seq
MIRT997966	hsa-miR-519d	CLIP-seq
MIRT997967	hsa-miR-520a-3p	CLIP-seq
MIRT997968	hsa-miR-520b	CLIP-seq
MIRT997969	hsa-miR-520c-3p	CLIP-seq
MIRT997970	hsa-miR-520d-3p	CLIP-seq
MIRT997971	hsa-miR-520e	CLIP-seq
MIRT997972	hsa-miR-520g	CLIP-seq
MIRT997973	hsa-miR-520h	CLIP-seq
MIRT997974	hsa-miR-532-3p	CLIP-seq
MIRT997975	hsa-miR-556-3p	CLIP-seq
MIRT997976	hsa-miR-558	CLIP-seq
MIRT997977	hsa-miR-574-5p	CLIP-seq
MIRT997978	hsa-miR-633	CLIP-seq
MIRT997979	hsa-miR-635	CLIP-seq
MIRT997980	hsa-miR-657	CLIP-seq
MIRT997981	hsa-miR-93	CLIP-seq
MIRT997982	hsa-miR-98	CLIP-seq
MIRT1995845	hsa-miR-15a	CLIP-seq
MIRT1995846	hsa-miR-15b	CLIP-seq
MIRT1995847	hsa-miR-16	CLIP-seq
MIRT1995848	hsa-miR-195	CLIP-seq
MIRT1995849	hsa-miR-424	CLIP-seq
MIRT1995850	hsa-miR-4257	CLIP-seq
MIRT1995851	hsa-miR-4446-3p	CLIP-seq
MIRT1995852	hsa-miR-4524	CLIP-seq
MIRT1995853	hsa-miR-4656	CLIP-seq
MIRT1995854	hsa-miR-4721	CLIP-seq
MIRT1995855	hsa-miR-497	CLIP-seq
MIRT1995856	hsa-miR-503	CLIP-seq
MIRT997964	hsa-miR-5095	CLIP-seq
MIRT1995857	hsa-miR-646	CLIP-seq
MIRT1995858	hsa-miR-668	CLIP-seq
MIRT997910	hsa-miR-106a	CLIP-seq
MIRT997911	hsa-miR-106b	CLIP-seq
MIRT997912	hsa-miR-1224-3p	CLIP-seq
MIRT997913	hsa-miR-1234	CLIP-seq
MIRT997914	hsa-miR-1260	CLIP-seq
MIRT997915	hsa-miR-1260b	CLIP-seq
MIRT997917	hsa-miR-1280	CLIP-seq
MIRT997919	hsa-miR-1343	CLIP-seq
MIRT997920	hsa-miR-150	CLIP-seq
MIRT997921	hsa-miR-17	CLIP-seq
MIRT997925	hsa-miR-20a	CLIP-seq
MIRT997926	hsa-miR-20b	CLIP-seq
MIRT997927	hsa-miR-302a	CLIP-seq
MIRT997928	hsa-miR-302b	CLIP-seq
MIRT997929	hsa-miR-302c	CLIP-seq
MIRT997930	hsa-miR-302d	CLIP-seq
MIRT997931	hsa-miR-302e	CLIP-seq
MIRT2229794	hsa-miR-3126-5p	CLIP-seq
MIRT997939	hsa-miR-372	CLIP-seq
MIRT997940	hsa-miR-373	CLIP-seq
MIRT997941	hsa-miR-378g	CLIP-seq
MIRT1995850	hsa-miR-4257	CLIP-seq
MIRT2229795	hsa-miR-4419a	CLIP-seq
MIRT997944	hsa-miR-4437	CLIP-seq
MIRT1995851	hsa-miR-4446-3p	CLIP-seq
MIRT2229796	hsa-miR-4494	CLIP-seq
MIRT2229797	hsa-miR-4510	CLIP-seq
MIRT1995853	hsa-miR-4656	CLIP-seq
MIRT997955	hsa-miR-4674	CLIP-seq
MIRT2229798	hsa-miR-4710	CLIP-seq
MIRT1995854	hsa-miR-4721	CLIP-seq
MIRT997900	hsa-miR-4731-5p	CLIP-seq
MIRT2229799	hsa-miR-499a-5p	CLIP-seq
MIRT997966	hsa-miR-519d	CLIP-seq
MIRT997967	hsa-miR-520a-3p	CLIP-seq
MIRT997968	hsa-miR-520b	CLIP-seq
MIRT997969	hsa-miR-520c-3p	CLIP-seq
MIRT997970	hsa-miR-520d-3p	CLIP-seq
MIRT997971	hsa-miR-520e	CLIP-seq
MIRT997972	hsa-miR-520g	CLIP-seq
MIRT997973	hsa-miR-520h	CLIP-seq
MIRT997974	hsa-miR-532-3p	CLIP-seq
MIRT2229800	hsa-miR-640	CLIP-seq
MIRT1995857	hsa-miR-646	CLIP-seq
MIRT1995858	hsa-miR-668	CLIP-seq
MIRT997981	hsa-miR-93	CLIP-seq
MIRT2533743	hsa-miR-1184	CLIP-seq
MIRT2533744	hsa-miR-4281	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IDA	26923585, 29477842
GO:0000139	Component	Golgi membrane	IEA
GO:0001654	Process	Eye development	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0002162	Function	Dystroglycan binding	IEA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003016	Process	Respiratory system process	IEA
GO:0005515	Function	Protein binding	IPI	27601598, 29477842
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IDA	19900540
GO:0005615	Component	Extracellular space	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005791	Component	Rough endoplasmic reticulum	IDA	15213246
GO:0005791	Component	Rough endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA	19900540, 25279699, 29477842
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0006096	Process	Glycolytic process	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006600	Process	Creatine metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006936	Process	Muscle contraction	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0007417	Process	Central nervous system development	IEA
GO:0007420	Process	Brain development	IEA
GO:0007507	Process	Heart development	IEA
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0007628	Process	Adult walking behavior	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0009100	Process	Glycoprotein metabolic process	IEA
GO:0009101	Process	Glycoprotein biosynthetic process	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0010001	Process	Glial cell differentiation	IEA
GO:0010467	Process	Gene expression	IEA
GO:0014823	Process	Response to activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016485	Process	Protein processing	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016780	Function	Phosphotransferase activity, for other substituted phosphate groups	IDA	26923585, 27194101, 29477842, 31949166
GO:0016780	Function	Phosphotransferase activity, for other substituted phosphate groups	IEA
GO:0017038	Process	Protein import	IEA
GO:0019321	Process	Pentose metabolic process	IEA
GO:0019519	Process	Pentitol metabolic process	IEA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030282	Process	Bone mineralization	IEA
GO:0035269	Process	Protein O-linked glycosylation via mannose	IBA
GO:0035269	Process	Protein O-linked glycosylation via mannose	IEA
GO:0035269	Process	Protein O-linked glycosylation via mannose	IMP	25279699
GO:0035437	Process	Maintenance of protein localization in endoplasmic reticulum	IEA
GO:0036058	Process	Filtration diaphragm assembly	IEA
GO:0036211	Process	Protein modification process	IEA
GO:0038026	Process	Reelin-mediated signaling pathway	IEA
GO:0042383	Component	Sarcolemma	IEA
GO:0042692	Process	Muscle cell differentiation	IEA
GO:0042802	Function	Identical protein binding	IPI	31949166
GO:0043010	Process	Camera-type eye development	IEA
GO:0043236	Function	Laminin binding	IEA
GO:0043403	Process	Skeletal muscle tissue regeneration	IEA
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050905	Process	Neuromuscular process	IEA
GO:0051146	Process	Striated muscle cell differentiation	IEA
GO:0051262	Process	Protein tetramerization	IDA	31949166
GO:0051384	Process	Response to glucocorticoid	IEA
GO:0051674	Process	Localization of cell	IEA
GO:0060538	Process	Skeletal muscle organ development	IEA
GO:0060539	Process	Diaphragm development	IEA
GO:0061061	Process	Muscle structure development	IEA
GO:0061448	Process	Connective tissue development	IEA
GO:0071711	Process	Basement membrane organization	IEA
GO:0072592	Process	Oxygen metabolic process	IEA
GO:0097305	Process	Response to alcohol	IEA
GO:0097709	Process	Connective tissue replacement	IEA
GO:0098528	Process	Skeletal muscle fiber differentiation	IEA
GO:0098723	Component	Skeletal muscle myofibril	IEA

Other IDs

• MIM: 606596
• HGNC: 17997
• e!Ensembl: ENSG00000181027

Protein

• UniProt ID: Q9H9S5
• Protein name: Ribitol 5-phosphate transferase FKRP (EC 2.7.8.-) (Fukutin-related protein) (Ribitol-5-phosphate transferase)
• Protein function: Catalyzes the transfer of a ribitol 5-phosphate from CDP-L-ribitol to the ribitol 5-phosphate previously attached by FKTN/fukutin to the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-
• PDB: 6KAJ, 6KAK, 6KAL, 6KAM, 6KAN, 6L7S, 6L7T, 6L7U
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04991	LicD	334 → 374	LicD family	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the retina (at protein level) (PubMed:29416295). Expressed predominantly in skeletal muscle, placenta, and heart and relatively weakly in brain, lung, liver, kidney, and pancreas (PubMed:11592034). {ECO:0000269|PubMed:1159
• Sequence:

  MRLTRCQAALAAAITLNLLVLFYVSWLQHQPRNSRARGPRRASAAGPRVTVLVREFEAFD
  NAVPELVDSFLQQDPAQPVVVAADTLPYPPLALPRIPNVRLALLQPALDRPAAASRPETY
  VATEFVALVPDGARAEAPGLLERMVEALRAGSARLVAAPVATANPARCLALNVSLREWTA
  RYGAAPAAPRCDALDGDAVVLLRARDLFNLSAPLARPVGTSLFLQTALRGWAVQLLDLTF
  AAARQPPLATAHARWKAEREGRARRAALLRALGIRLVSWEGGRLEWFGCNKETTRCFGTV
  VGDTPAYLYEERWTPPCCLRALRETARYVVGVLEAAGVRYWLEGGSLLGAARHGDIIPWD
  YDVDLGIYLEDVGNCEQLRGAEAGSVVDERGFVWEKAVEGDFFRVQYSESNHLHVDLWPF
  YPRNGVMTKDTWLDHRQDVEFPEHFLQPLVPLPFAGFVAQAPNNYRRFLELKFGPGVIEN
  PQYPNPALLSLTGSG

• Sequence length: 495

Pathways

KEGG:

Mannose type O-glycan biosynthesis
Metabolic pathways

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	rs1173430388, rs1249694833	RCV001814334 RCV001814462	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acute rhabdomyolysis	Likely pathogenic; Pathogenic	rs1290836394	RCV005865333	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive limb-girdle muscular dystrophy	Likely pathogenic; Pathogenic	rs2513984206, rs28937900, rs104894682, rs28937905, rs104894691, rs104894692, rs121908110, rs886042506, rs2513998901, rs1301397800, rs765885747, rs768606230, rs1555739280	RCV002308725 RCV002222338 RCV002222339 RCV004700187 RCV003155013 RCV003488324 RCV003114175 RCV004767212 RCV003988248 RCV003488744 RCV003226352 RCV003323674 RCV002233101	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive limb-girdle muscular dystrophy type 2I	Likely pathogenic; Pathogenic	rs28937901, rs398124395, rs1051900223, rs1311148380, rs554813030, rs1318972801, rs1555738502, rs104894680, rs104894681, rs28937900, rs587777823, rs104894682, rs28937903, rs28937904, rs28937905, rs104894689, rs104894691, rs104894692, rs121908110, rs752582904, rs2513994525, rs2513991038, rs543163491, rs886042506, rs886043706, rs886044083, rs886044183, rs1293404628, rs1555739119, rs1290836394, rs753811189, rs1247934219, rs1301397800, rs1555738245, rs1555738568, rs1555738651, rs752731569, rs1555738764, rs765885747, rs1555738149, rs1555738883, rs1555738201, rs1555738753, rs587780334, rs1555739041, rs748087383, rs768606230, rs770711331, rs1191737604, rs1555738823, rs1173430388, rs1555738204, rs1555738311, rs1555738456, rs1555738686, rs1555738675, rs1483781400, rs754403441, rs1555739280, rs1555739333, rs748798133, rs1599939853, rs1599937963, rs2054893955	RCV001831029 RCV000178344 RCV001826153 RCV005014531 RCV001815627 RCV003107986 RCV002470470 RCV005025007 RCV000763056 RCV000004442 RCV000004443 RCV000004444 RCV000675047 RCV000201040 RCV005614366 RCV000004449 RCV000004451 RCV000004453 RCV000004455 RCV001273521 RCV002500502 RCV005019275 RCV005019295 RCV000984175 RCV000665348 RCV000673066 RCV002272206 RCV000282481 RCV005616669 RCV005030252 RCV001834762 RCV000576484 RCV000674695 RCV000671168 RCV000667008 RCV000672053 RCV000668109 RCV000665862 RCV000671994 RCV000672793 RCV000665088 RCV000669278 RCV000674174 RCV000671226 RCV000669672 RCV000668106 RCV000674304 RCV000674951 RCV000671396 RCV000665956 RCV000668168 RCV000669569 RCV000669472 RCV000666517 RCV000673440 RCV000671874 RCV000669713 RCV000674998 RCV000665682 RCV000672422 RCV000671966 RCV000672588 RCV001830816 RCV002507413 RCV000855420 RCV000985158 RCV001836149	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs1051900223, rs772020161, rs2513999711, rs104894680, rs104894681, rs28937900, rs104894691, rs121908110, rs543163491, rs886042506, rs772950604, rs1261833304, rs1290836394, rs1301397800, rs1555738651, rs765885747, rs768606230, rs770711331, rs1555738686, rs1555739280, rs1057520771, rs1060502109	RCV002447504 RCV002334830 RCV002381099 RCV003352746 RCV002381242 RCV002408451 RCV002371759 RCV004018553 RCV004992146 RCV005338123 RCV003278742 RCV005335814 RCV002404397 RCV005405215 RCV004026087 RCV002369793 RCV005562429 RCV004993923 RCV004993928 RCV003163067 RCV006342519 RCV005572500	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FKRP-related disorder	Likely pathogenic; Pathogenic	rs28937900, rs104894692	RCV004532287 RCV000844942	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FKRP-related muscular dystrophy-dystroglycanopathy	Likely pathogenic; Pathogenic	rs28937900	RCV005401279	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary skeletal muscle disorder	Likely pathogenic; Pathogenic	rs28937900	RCV005624670	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Limb-girdle muscular dystrophy	Likely pathogenic; Pathogenic	rs28937900	RCV000612115	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular dystrophy	Likely pathogenic; Pathogenic	rs121908110	RCV000194089	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular dystrophy-dystroglycanopathy	Likely pathogenic; Pathogenic	rs28937900, rs104894682	RCV000503787 RCV000501528	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Likely pathogenic; Pathogenic	rs104894681, rs28937900, rs104894691, rs121908110, rs752582904, rs765885747, rs1555738753, rs770711331, rs748798133, rs1599939853	RCV000763056 RCV005357072 RCV001813735 RCV002490307 RCV002500502 RCV002499146 RCV002499167 RCV002499150 RCV002507441 RCV002507413	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	Pathogenic; Likely pathogenic	rs398124395, rs1314297056, rs1311148380, rs587777223, rs554813030, rs1384878260, rs886043401, rs1318972801, rs2513988364, rs104894680, rs104894681, rs28937900, rs28937902, rs28937903, rs28937904, rs104894691, rs104894692, rs104894684, rs121908110, rs752582904, rs2513994525, rs2513991192, rs2513991038, rs886041004, rs543163491, rs886042506, rs761821795, rs772950604, rs886044083, rs2513984831, rs2513999220, rs2054926451, rs200025577, rs2513990210, rs2054927620, rs1181528755, rs2513996807, rs2513996251, rs2513986224, rs77351928, rs2054934490, rs2513992225, rs2513989220, rs2513997414, rs2513988220, rs2513987580, rs2513996716, rs1293404628, rs1555739119, rs2122609947, rs1229287051, rs2513984718, rs2513991769, rs2054929597, rs2513986660, rs2513984618, rs1398034977, rs2513990753, rs1290836394, rs1247934219, rs1301397800, rs1555738502, rs765885747, rs1555738753, rs748087383, rs770711331, rs1173430388, rs754403441, rs1555739280, rs1057520771, rs748798133, rs1599939853, rs2054921636, rs745882222, rs1060502109, rs2054893955	RCV003466994 RCV003463008 RCV005014531 RCV000106303 RCV001815627 RCV004571446 RCV004571449 RCV003471303 RCV003465932 RCV003460427 RCV000763056 RCV000660622 RCV003460428 RCV003466808 RCV003466809 RCV003466810 RCV000004454 RCV000004456 RCV002490307 RCV002500502 RCV005019275 RCV003464575 RCV005019295 RCV000258204 RCV003463742 RCV003224251 RCV003463757 RCV003463774 RCV004567836 RCV003461573 RCV003461574 RCV003468197 RCV003461576 RCV003461577 RCV003461578 RCV003468200 RCV003461579 RCV003461580 RCV003468201 RCV003468202 RCV003461581 RCV003461582 RCV003461583 RCV003461584 RCV003468203 RCV003461585 RCV003461586 RCV004574085 RCV004573283 RCV004576603 RCV004576604 RCV004576605 RCV004576606 RCV004576607 RCV004576608 RCV004576610 RCV004576611 RCV004576612 RCV003459205 RCV003459466 RCV003459515 RCV003459634 RCV002499146 RCV002499167 RCV003459647 RCV002499150 RCV005870753 RCV003459638 RCV003459632 RCV004569418 RCV001580551 RCV002507413 RCV001175208 RCV003469313 RCV003469385 RCV003469346	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 5	Likely pathogenic; Pathogenic	rs104894680, rs104894681, rs121908110	RCV002226439 RCV002226440 RCV002226441	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular dystrophy-dystroglycanopathy type B5	Pathogenic; Likely pathogenic	rs398124395, rs1311148380, rs554813030, rs104894680, rs104894681, rs28937900, rs28937901, rs28937902, rs28937903, rs28937904, rs104894691, rs121908110, rs752582904, rs2513994525, rs2513991038, rs543163491, rs886042506, rs886044183, rs1555739119, rs765885747, rs1555738753, rs770711331, rs1173430388, rs748798133, rs1599939853, rs745882222, rs2054893955	RCV003987356 RCV005014531 RCV001815627 RCV005025007 RCV000763056 RCV000660622 RCV000004445 RCV000004446 RCV000004447 RCV000004448 RCV005003334 RCV001254718 RCV002500502 RCV005019275 RCV005019295 RCV004796149 RCV003224251 RCV005230229 RCV005030252 RCV002499146 RCV002499167 RCV002499150 RCV005860123 RCV002507441 RCV002507413 RCV001196908 RCV005866863	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myopathy	Likely pathogenic; Pathogenic	rs28937900	RCV001526640	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy caused by variation in FKRP	Likely pathogenic; Pathogenic	rs28937900, rs745882222	RCV003993736 RCV005633930	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuronopathy, distal hereditary motor, type 2B	Likely pathogenic; Pathogenic	rs28937900	RCV004776425	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nizon-Isidor syndrome	Likely pathogenic; Pathogenic	rs28937900	RCV004776426	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Walker-Warburg congenital muscular dystrophy	Likely pathogenic; Pathogenic	rs28937901, rs398124395, rs1051900223, rs587777223, rs1314297056, rs2122617005, rs1311148380, rs2122620867, rs2122626858, rs2122627673, rs2122628653, rs1173430388, rs1249694833, rs1384878260, rs772020161, rs779619633, rs2122623346, rs746533953, rs769377092, rs2122628972, rs2122609879, rs2122630850, rs2122635879, rs2122625896, rs2122620454, rs2122636612, rs886043401, rs2513999711, rs28937905, rs2513988364, rs748798133, rs1462094685, rs104894680, rs104894681, rs28937900, rs104894682, rs28937903, rs104894691, rs104894692, rs121908110, rs2513992369, rs2513996082, rs2513992552, rs752582904, rs1555738204, rs2513994525, rs2513991192, rs2513991038, rs2514000287, rs1555739020, rs765591278, rs1179406638, rs1555738103, rs2513991243, rs2513989133, rs2513993849, rs868138875, rs2513993372, rs2513992968, rs2513999779, rs543163491, rs886042506, rs761821795, rs886043706, rs886043959, rs772950604, rs886044083, rs754403441, rs886044183, rs2513999220, rs2054926451, rs2513986224, rs2513992225, rs1293404628, rs1261833304, rs2513996914, rs2513989754, rs2513985802, rs2513984747, rs1450841129, rs2514000241, rs2513986651, rs2513987082, rs2513993243, rs2513999258, rs2513994340, rs1555739119, rs2513992872, rs2054929597, rs1060502109, rs1290836394, rs1247934219, rs1301397800, rs1555738502, rs1555738651, rs1555738764, rs765885747, rs1555738883, rs1555738201, rs1555738753, rs587780334, rs748087383, rs768606230, rs770711331, rs1555738686, rs1555739280, rs1568419860, rs1057520771, rs1599939853, rs745882222, rs2054893955, rs2054934925	RCV001327126 RCV001050280 RCV001379447 RCV001384814 RCV001385930 RCV001380523 RCV001383495 RCV001389478 RCV001384655 RCV001384821 RCV001390523 RCV001873810 RCV005094752 RCV001902078 RCV001901109 RCV002007324 RCV002007547 RCV002035498 RCV001962936 RCV001894201 RCV002049182 RCV001871237 RCV001890091 RCV002006464 RCV001934804 RCV002040974 RCV001929734 RCV003591949 RCV003041375 RCV003041376 RCV003050544 RCV002598598 RCV000634067 RCV003591620 RCV000231711 RCV000471321 RCV003591621 RCV000532707 RCV003591622 RCV000814162 RCV000805125 RCV000540601 RCV002640462 RCV002632739 RCV003110395 RCV001065681 RCV002573051 RCV002604120 RCV002638812 RCV002635425 RCV002636169 RCV002672165 RCV002725323 RCV002710932 RCV002834801 RCV002857109 RCV002870689 RCV002875781 RCV002913462 RCV002942360 RCV003039625 RCV003044842 RCV000810074 RCV000812275 RCV001859606 RCV001218316 RCV001859683 RCV001386555 RCV003754873 RCV003114455 RCV000461986 RCV003755043 RCV005100168 RCV003755044 RCV005100169 RCV003593251 RCV003593342 RCV003755467 RCV003755395 RCV003755582 RCV003755664 RCV003755680 RCV003755850 RCV003755843 RCV003755876 RCV003755909 RCV003756017 RCV003756068 RCV003756534 RCV003857529 RCV005101930 RCV000461046 RCV000559625 RCV000527187 RCV000553071 RCV000810990 RCV000634073 RCV001868261 RCV001855447 RCV002531323 RCV001055645 RCV002532159 RCV003754883 RCV001855524 RCV002530737 RCV001861850 RCV002531280 RCV000700227 RCV001868232 RCV003754882 RCV001855525 RCV000688076 RCV005091953 RCV000704699 RCV005056493 RCV000822337 RCV000810942 RCV002561048 RCV001222642 RCV001209480 RCV001233304	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cardiomyopathy	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CMD DUE TO DYSTROGLYCANOPATHY	—	Disgenet	★★☆☆☆ 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
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 MYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystrophin deficiency	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	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
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-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARESTHESIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ 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
Agyria	Agyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
alpha-Dystroglycanopathies	alpha-Dystroglycanopathy	BEFREE	23217329		★☆☆☆☆ Found in Text Mining only
alpha-Dystroglycanopathies	alpha-Dystroglycanopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Alpha-Sarcoglycanopathies	Limb-girdle muscular dystrophy	BEFREE	15726252		★☆☆☆☆ 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
Arachnodactyly	Arachnodactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	22443334, 23035061		★☆☆☆☆ Found in Text Mining only
BETHLEM MYOPATHY 1	Bethlem Myopathy	BEFREE	23035061		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	14652796	Associate	★☆☆☆☆ Found in Text Mining only
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	BEFREE	29858056		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	19917824, 23800702, 25048216		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	32429923, 32914449, 36522254, 37927270	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	31671740	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	LHGDN	15833432, 18060779		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	18060779		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	29545480		★☆☆☆☆ 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	23420653		★☆☆☆☆ 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
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	GWASDB_DG	20062064		★☆☆☆☆ 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	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	15574464, 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 Heart Defects	Congenital heart defects	BEFREE	16786213		★☆☆☆☆ 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 muscular dystrophy (disorder)	Congenital muscular dystrophy	BEFREE	11592034, 11741828, 12654965, 12707425, 12925572, 12966029, 14523375, 14652796, 14742276, 14755496, 15229394, 15574464, 15833426, 16476814, 17336067, 18645206, 18671187, 19019316, 19900540, 19917824, 19955119, 22029705, 23420653, 27439679, 28480302, 28666318, 29625576, 29858056, 30150693		★☆☆☆☆ 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 muscular dystrophy without intellectual disability	Congenital Muscular Dystrophy Without Intellectual Disability	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	BEFREE	14652796		★☆☆☆☆ Found in Text Mining only
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
Congestive heart failure	Congestive Heart Failure	BEFREE	12707425		★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	37154180	Associate	★☆☆☆☆ Found in Text Mining only
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	Craniometaphyseal Dysplasia	BEFREE	29858056		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	12654965		★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	LHGDN	12654965		★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	22403184	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	21980299		★☆☆☆☆ Found in Text Mining only
Distal myopathy Nonaka type	Distal myopathy	Pubtator	39408683	Associate	★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	30003095	Associate	★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
FKRP-related limb-girdle muscular dystrophy R9	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Fukuyama Type Congenital Muscular Dystrophy	Fukuyama Type Congenital Muscular Dystrophy	BEFREE	15229394, 19019316, 19955119, 28629604		★☆☆☆☆ Found in Text Mining only
Fukuyama Type Congenital Muscular Dystrophy	Fukuyama Type Congenital Muscular Dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Fukuyama Type Congenital Muscular Dystrophy	Fukuyama Type Congenital Muscular Dystrophy	CLINVAR_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
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	31931849	Associate	★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	14652796, 32342672	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	12707425		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	19705481	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	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Glaucoma, congenital	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	14652796	Associate	★☆☆☆☆ 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	12654965, 14652796, 15574464		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	LHGDN	12654965		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	14652796	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Irido-corneo-trabecular dysgenesis (disorder)	Anterior segment dysgenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	37154180	Associate	★☆☆☆☆ 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	25135358		★☆☆☆☆ Found in Text Mining only
Limb-girdle muscular dystrophy type 2H	Sarcotubular myopathy	BEFREE	30919934		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Meningoencephalocele	Meningoencephalocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	12654965, 14652796, 15574464		★☆☆☆☆ 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	ORPHANET_DG	15121789, 19299310		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscle eye brain disease	Muscle Eye Brain Disease	BEFREE	19019316, 23591631, 28666318		★★☆☆☆ 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	11741828, 12678490, 12707425, 12925572, 14652796, 14742276, 14967765, 15505776, 15574464, 15580560, 15726252, 15833432, 15886712, 16055117, 16344347, 16634037, 16786213, 17055682, 17336067, 17446099, 17952692, 18036232, 18671187, 19019316, 19900540, 19917824, 19955119, 20961758, 20961759, 21296577, 22029705, 23420653, 23576288, 23591631, 23800702, 24139536, 24587344, 25048216, 25560911, 26363967, 26404900, 26574668, 27439679, 27872178, 28334834, 28403181, 28479227, 28663375, 28666318, 28860175, 28931339, 29545480, 29571322, 30003095, 30232282, 31091146		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	LHGDN	11741828, 16344347, 17055682, 17113772, 17446099, 17952692, 18593008		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	CLINVAR_DG	11741828, 12666124, 15060126, 15574464, 15580560, 15833432, 16634037, 17554798, 18593008, 19820980, 19835634, 19900540, 21228398, 22264518, 23576288, 23591631, 24447024, 25048216, 25560911, 26363967, 26574668, 26833294		★☆☆☆☆ 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	LHGDN	12654965, 12666124, 14652796, 15574464, 17336067		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular Dystrophy	Muscular dystrophy	BEFREE	14652796, 14742276, 15689361, 15958417, 16288869, 16368217, 18036232, 19955119, 20234391, 21317159, 23591631, 24139536, 26810512, 27872178, 29571322, 29625576, 30003095, 30232282, 30417025		★★★★☆ 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 Duchenne	Duchenne muscular dystrophy	Pubtator	39408683	Associate	★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, CONGENITAL, 1C	Congenital Muscular Dystrophy	GENOMICS_ENGLAND_DG	11053680, 11592034, 20236121, 27421908, 27604308		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, CONGENITAL, 1C	Congenital Muscular Dystrophy	UNIPROT_DG	11592034, 12654965, 12666124, 14652796, 17336067		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, CONGENITAL, 1C	Congenital Muscular Dystrophy	BEFREE	11741828, 12707425, 14652796, 18671187, 19917824, 22029705		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, CONGENITAL, 1C	Congenital Muscular Dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, CONGENITAL, 1C	Congenital Muscular Dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I	Limb-girdle muscular dystrophy	GENOMICS_ENGLAND_DG	11053680, 27421908, 27604308		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I	Limb-girdle muscular dystrophy	CLINVAR_DG	11592034, 11741828, 12666124, 12707425, 14523375, 14647208, 14652796, 15060126, 15574464, 15580560, 15833426, 16344347, 16368217, 16476814, 16634037, 17446099, 18160674, 18639457, 18671187, 18691338, 19155270, 19299310, 19900540, 19955119, 20623375, 20961759, 23420653, 23591631, 23800702, 23894383, 24139536, 25987458, 26320847, 26436962, 27439679, 28454995, 28629604		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I	Limb-girdle muscular dystrophy	UNIPROT_DG	11741828, 12666124, 14523375, 14647208, 23800702, 30345904		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I	Limb-girdle muscular dystrophy	BEFREE	12707425, 14652796, 16055117, 16288869, 24587344		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I	Limb-girdle muscular dystrophy	CTD_human_DG			★☆☆☆☆ 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	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 BRAIN AND EYE ANOMALIES), TYPE A, 5	Muscular Dystrophy-Dystroglycanopathy	GENOMICS_ENGLAND_DG	11053680, 11592034, 20236121, 27421908, 27604308		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5	Muscular Dystrophy-Dystroglycanopathy	UNIPROT_DG	15121789		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5	Muscular Dystrophy-Dystroglycanopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes Congenital	Myasthenic syndrome	Pubtator	32115343	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	14523375, 19900540, 23591631, 26574668, 31375477		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Myopathy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	16386759		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	GWASDB_DG	20512145		★☆☆☆☆ Found in Text Mining only
Necrotizing myopathy	Necrotizing myopathy	BEFREE	26363967		★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	14652796	Associate	★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	20234391, 25135358		★☆☆☆☆ 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
Pancreatitis	Pancreatitis	Pubtator	22403184	Associate	★☆☆☆☆ 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
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
Rhabdomyolysis	Rhabdomyolysis	Pubtator	32978841	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoglycanopathies	Sarcoglycanopathy	BEFREE	16634037, 23035061, 31747956		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_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	BEFREE	24139536		★☆☆☆☆ 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
Tachycardia, Ventricular	Ventricular tachycardia	BEFREE	29545480		★☆☆☆☆ Found in Text Mining only
Walker-Warburg congenital muscular dystrophy	Walker-Warburg Congenital Muscular Dystrophy	CLINVAR_DG	11592034, 11741828, 12666124, 12707425, 14647208, 14652796, 14742276, 15060126, 15121789, 15574464, 15580560, 15833426, 16368217, 16476814, 16634037, 16786213, 17055682, 17113772, 17336067, 17446099, 18060779, 18639457, 18671187, 18691338, 19955119, 21220724, 22908982, 22981120, 23420653, 23576288, 23591631, 23800702, 23894383, 24447024, 26320847, 26436962, 27363342, 27439679, 27848944, 28629604, 28931339		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Walker-Warburg congenital muscular dystrophy	Walker-Warburg Congenital Muscular Dystrophy	BEFREE	12966029, 17161965, 18640039, 19019316, 19900540, 19955119, 20236121, 20961758, 23591631, 24139536, 30232282		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Walker-Warburg congenital muscular dystrophy	Walker-Warburg Congenital Muscular Dystrophy	ORPHANET_DG	20236121		★★★★★ 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 congenital muscular dystrophy	Walker-Warburg Congenital Muscular Dystrophy	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Walker-Warburg syndrome	Walker-Warburg Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations