POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-))

Gene

• Entrez ID: 55624
• Gene name: Protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
• Gene symbol: POMGNT1
• Synonyms (NCBI Gene): GNTI.2, GnT I.2, LGMD2O, LGMDR15, MEB, MGAT1.2, RP76, gnT-I.2
• Chromosome: 1
• Chromosome location: 1p34.1
• Summary: This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease an

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs138950267	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	5 prime UTR variant, synonymous variant, coding sequence variant
rs193919337	G>A	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs386834027	->G	Likely-pathogenic	Frameshift variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs398124310	->T	Pathogenic	Frameshift variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs1057516478	CCAG>TCAC	Likely-pathogenic	Stop gained, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs1057516871	T>C	Likely-pathogenic	Intron variant, splice acceptor variant
rs1057517153	->T	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1571672866	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT049784	hsa-miR-92a-3p	CLASH	23622248
MIRT048358	hsa-miR-103a-3p	CLASH	23622248
MIRT046794	hsa-miR-222-3p	CLASH	23622248
MIRT038869	hsa-miR-93-3p	CLASH	23622248
MIRT038246	hsa-miR-330-5p	CLASH	23622248
MIRT037663	hsa-miR-744-5p	CLASH	23622248
MIRT654919	hsa-miR-1470	HITS-CLIP	23824327
MIRT666875	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT654918	hsa-miR-5193	HITS-CLIP	23824327
MIRT666874	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT654917	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT654916	hsa-miR-3121-5p	HITS-CLIP	23824327
MIRT654915	hsa-miR-4469	HITS-CLIP	23824327
MIRT654914	hsa-miR-7106-3p	HITS-CLIP	23824327
MIRT654913	hsa-miR-4489	HITS-CLIP	23824327
MIRT654912	hsa-miR-4283	HITS-CLIP	23824327
MIRT654911	hsa-miR-185-3p	HITS-CLIP	23824327
MIRT654910	hsa-miR-6835-5p	HITS-CLIP	23824327
MIRT654909	hsa-miR-6752-5p	HITS-CLIP	23824327
MIRT654908	hsa-miR-6842-5p	HITS-CLIP	23824327
MIRT654907	hsa-miR-7110-5p	HITS-CLIP	23824327
MIRT654906	hsa-miR-1275	HITS-CLIP	23824327
MIRT654905	hsa-miR-4665-5p	HITS-CLIP	23824327
MIRT654903	hsa-miR-7109-5p	HITS-CLIP	23824327
MIRT654904	hsa-miR-6751-5p	HITS-CLIP	23824327
MIRT654902	hsa-miR-6803-5p	HITS-CLIP	23824327
MIRT654901	hsa-miR-450a-2-3p	HITS-CLIP	23824327
MIRT654900	hsa-miR-4260	HITS-CLIP	23824327
MIRT654899	hsa-miR-5572	HITS-CLIP	23824327
MIRT654919	hsa-miR-1470	HITS-CLIP	23824327
MIRT654918	hsa-miR-5193	HITS-CLIP	23824327
MIRT654917	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT654916	hsa-miR-3121-5p	HITS-CLIP	23824327
MIRT654915	hsa-miR-4469	HITS-CLIP	23824327
MIRT654914	hsa-miR-7106-3p	HITS-CLIP	23824327
MIRT654913	hsa-miR-4489	HITS-CLIP	23824327
MIRT654912	hsa-miR-4283	HITS-CLIP	23824327
MIRT654911	hsa-miR-185-3p	HITS-CLIP	23824327
MIRT654910	hsa-miR-6835-5p	HITS-CLIP	23824327
MIRT654909	hsa-miR-6752-5p	HITS-CLIP	23824327
MIRT654908	hsa-miR-6842-5p	HITS-CLIP	23824327
MIRT654907	hsa-miR-7110-5p	HITS-CLIP	23824327
MIRT654906	hsa-miR-1275	HITS-CLIP	23824327
MIRT654905	hsa-miR-4665-5p	HITS-CLIP	23824327
MIRT654903	hsa-miR-7109-5p	HITS-CLIP	23824327
MIRT654904	hsa-miR-6751-5p	HITS-CLIP	23824327
MIRT654902	hsa-miR-6803-5p	HITS-CLIP	23824327
MIRT654901	hsa-miR-450a-2-3p	HITS-CLIP	23824327
MIRT654900	hsa-miR-4260	HITS-CLIP	23824327
MIRT654899	hsa-miR-5572	HITS-CLIP	23824327
MIRT654919	hsa-miR-1470	HITS-CLIP	23824327
MIRT666875	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT654918	hsa-miR-5193	HITS-CLIP	23824327
MIRT666874	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT654917	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT654916	hsa-miR-3121-5p	HITS-CLIP	23824327
MIRT654915	hsa-miR-4469	HITS-CLIP	23824327
MIRT654914	hsa-miR-7106-3p	HITS-CLIP	23824327
MIRT654913	hsa-miR-4489	HITS-CLIP	23824327
MIRT654912	hsa-miR-4283	HITS-CLIP	23824327
MIRT654911	hsa-miR-185-3p	HITS-CLIP	23824327
MIRT654910	hsa-miR-6835-5p	HITS-CLIP	23824327
MIRT654909	hsa-miR-6752-5p	HITS-CLIP	23824327
MIRT654908	hsa-miR-6842-5p	HITS-CLIP	23824327
MIRT654907	hsa-miR-7110-5p	HITS-CLIP	23824327
MIRT654906	hsa-miR-1275	HITS-CLIP	23824327
MIRT654905	hsa-miR-4665-5p	HITS-CLIP	23824327
MIRT654903	hsa-miR-7109-5p	HITS-CLIP	23824327
MIRT654904	hsa-miR-6751-5p	HITS-CLIP	23824327
MIRT654902	hsa-miR-6803-5p	HITS-CLIP	23824327
MIRT654901	hsa-miR-450a-2-3p	HITS-CLIP	23824327
MIRT654900	hsa-miR-4260	HITS-CLIP	23824327
MIRT654899	hsa-miR-5572	HITS-CLIP	23824327
MIRT654919	hsa-miR-1470	HITS-CLIP	23824327
MIRT654918	hsa-miR-5193	HITS-CLIP	23824327
MIRT654917	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT654916	hsa-miR-3121-5p	HITS-CLIP	23824327
MIRT654915	hsa-miR-4469	HITS-CLIP	23824327
MIRT654914	hsa-miR-7106-3p	HITS-CLIP	23824327
MIRT654913	hsa-miR-4489	HITS-CLIP	23824327
MIRT654912	hsa-miR-4283	HITS-CLIP	23824327
MIRT654911	hsa-miR-185-3p	HITS-CLIP	23824327
MIRT654910	hsa-miR-6835-5p	HITS-CLIP	23824327
MIRT654909	hsa-miR-6752-5p	HITS-CLIP	23824327
MIRT654908	hsa-miR-6842-5p	HITS-CLIP	23824327
MIRT654907	hsa-miR-7110-5p	HITS-CLIP	23824327
MIRT654906	hsa-miR-1275	HITS-CLIP	23824327
MIRT654905	hsa-miR-4665-5p	HITS-CLIP	23824327
MIRT654903	hsa-miR-7109-5p	HITS-CLIP	23824327
MIRT654904	hsa-miR-6751-5p	HITS-CLIP	23824327
MIRT654902	hsa-miR-6803-5p	HITS-CLIP	23824327
MIRT654901	hsa-miR-450a-2-3p	HITS-CLIP	23824327
MIRT654900	hsa-miR-4260	HITS-CLIP	23824327
MIRT654899	hsa-miR-5572	HITS-CLIP	23824327
MIRT1250051	hsa-miR-1909	CLIP-seq
MIRT1250052	hsa-miR-4290	CLIP-seq
MIRT1250053	hsa-miR-4645-5p	CLIP-seq
MIRT1250054	hsa-miR-4673	CLIP-seq
MIRT1250055	hsa-miR-609	CLIP-seq
MIRT2688360	hsa-miR-1207-3p	CLIP-seq
MIRT2688361	hsa-miR-2861	CLIP-seq
MIRT2688362	hsa-miR-296-5p	CLIP-seq
MIRT2688363	hsa-miR-299-3p	CLIP-seq
MIRT2688364	hsa-miR-4265	CLIP-seq
MIRT2688365	hsa-miR-4296	CLIP-seq
MIRT2688366	hsa-miR-4322	CLIP-seq
MIRT2688367	hsa-miR-4417	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ZNF202	Repression	22419172

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA
GO:0000139	Component	Golgi membrane	IDA	17034757
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0005515	Function	Protein binding	IPI	17034757, 25416956, 28514442, 29892012, 32296183, 32707033, 33961781
GO:0005794	Component	Golgi apparatus	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006493	Process	Protein O-linked glycosylation	IDA	11709191
GO:0006493	Process	Protein O-linked glycosylation	IEA
GO:0006493	Process	Protein O-linked glycosylation	IEA
GO:0006493	Process	Protein O-linked glycosylation	IMP	26908613, 27391550
GO:0006493	Process	Protein O-linked glycosylation	TAS
GO:0007420	Process	Brain development	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0008375	Function	Acetylglucosaminyltransferase activity	IDA	27493216
GO:0008375	Function	Acetylglucosaminyltransferase activity	IEA
GO:0008375	Function	Acetylglucosaminyltransferase activity	IMP	26908613, 27391550
GO:0010467	Process	Gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	IMP	27493216
GO:0016266	Process	Protein O-linked glycosylation via N-acetyl-galactosamine	IBA
GO:0016266	Process	Protein O-linked glycosylation via N-acetyl-galactosamine	IDA	27493216
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0021542	Process	Dentate gyrus development	IEA
GO:0030145	Function	Manganese ion binding	IDA	27493216
GO:0030246	Function	Carbohydrate binding	IEA
GO:0035269	Process	Protein O-linked glycosylation via mannose	IEA
GO:0036211	Process	Protein modification process	IEA
GO:0042552	Process	Myelination	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0047223	Function	Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	IBA
GO:0047223	Function	Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	IDA	11742540
GO:0047223	Function	Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	TAS
GO:0051674	Process	Localization of cell	IEA
GO:0071711	Process	Basement membrane organization	IEA
GO:0150103	Process	Reactive gliosis	IEA

Other IDs

• MIM: 606822
• HGNC: 19139
• e!Ensembl: ENSG00000085998

Protein

• UniProt ID: Q8WZA1
• Protein name: Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (POMGnT1) (EC 2.4.1.-) (UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.2) (GnT I.2)
• Protein function: Participates in O-mannosyl glycosylation by catalyzing the addition of N-acetylglucosamine to O-linked mannose on glycoproteins (PubMed:11709191, PubMed:27493216, PubMed:28512129). Catalyzes the synthesis of the GlcNAc(beta1-2)Man(alpha1-)O-Ser/
• PDB: 5GGF, 5GGG, 5GGI, 5GGJ, 5GGK, 5GGL, 5GGN, 5GGO, 5GGP, 5XFC
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15711	ILEI	129 → 218	Interleukin-like EMT inducer	Domain
  PF03071	GNT-I	293 → 609	GNT-I family	Family

• Tissue specificity: TISSUE SPECIFICITY: Constitutively expressed. An additional weaker band is also detected in spinal cord, lymph node, and trachea. Expressed especially in astrocytes. Also expressed in immature and mature neurons. {ECO:0000269|PubMed:11709191, ECO:0000269|
• Sequence:

  MDDWKPSPLIKPFGARKKRSWYLTWKYKLTNQRALRRFCQTGAVLFLLVTVIVNIKLILD
  TRRAISEANEDPEPEQDYDEALGRLEPPRRRGSGPRRVLDVEVYSSRSKVYVAVDGTTVL
  EDEAREQGRGIHVIVLNQATGHVMAKRVFDTYSPHEDEAMVLFLNMVAPGRVLICTVKDE
  GSFHLKDTAKALLRSLGSQAGPALGWRDTWAFVGRKGGPVFGEKHSKSPALSSWGDPVLL
  KTDVPLSSAEEAECHWADTELNRRRRRFCSKVEGYGSVCSCKDPTPIEFSPDPLPDNKVL
  NVPVAVIAGNRPNYLYRMLRSLLSAQGVSPQMITVFIDGYYEEPMDVVALFGLRGIQHTP
  ISIKNARVSQHYKASLTATFNLFPEAKFAVVLEEDLDIAVDFFSFLSQSIHLLEEDDSLY
  CISAWNDQGYEHTAEDPALLYRVETMPGLGWVLRRSLYKEELEPKWPTPEKLWDWDMWMR
  MPEQRRGRECIIPDVSRSYHFGIVGLNMNGYFHEAYFKKHKFNTVPGVQLRNVDSLKKEA
  YEVEVHRLLSEAEVLDHSKNPCEDSFLPDTEGHTYVAFIRMEKDDDFTTWTQLAKCLHIW
  DLDVRGNHRGLWRLFRKKNHFLMVGVPASPYSVKKPPSVTPIFLEPPPKEEGAPGAPEQT
  

• Sequence length: 660

Pathways

KEGG:

Mannose type O-glycan biosynthesis
Metabolic pathways

Reactome:

Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3
O-linked glycosylation

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs2148163693, rs1475539242	RCV001814327 RCV001814461	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive limb-girdle muscular dystrophy	Likely pathogenic; Pathogenic	rs886044567, rs193919335, rs28940869, rs193919336, rs190057175, rs1317832573, rs386834010, rs138642840, rs150877512	RCV004587149 RCV005406722 RCV002222337 RCV002509144 RCV003155140 RCV003230564 RCV004702308 RCV001269143 RCV001175511	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive limb-girdle muscular dystrophy type 2O	Likely pathogenic; Pathogenic	rs886044567, rs2148172518, rs1657940058, rs2148218654, rs1434252108, rs908815575, rs746196856, rs2148167494, rs1553163254, rs1317832573, rs1557677980, rs2148205473, rs2148166435, rs770219373, rs2148212111, rs1364587778, rs1156647434, rs2148222613, rs757322014, rs376973640, rs1302430730, rs2148192392, rs2148189653, rs1264635358, rs2148166991, rs2148192725, rs2148185606, rs2525345067, rs2525355533, rs587777821, rs28940869, rs193919336, rs193919337, rs267606962, rs267606960, rs1658064113, rs1038334168, rs2525436154, rs2525355372, rs1226108463, rs1658215085, rs2525403699, rs2525406886, rs2525476809, rs1658215662, rs1658367194, rs2525345375, rs2525463245, rs753827372, rs1057516477, rs2148184028, rs386834039, rs2525411630, rs1657824312, rs774349262, rs2525387871, rs2525336723, rs2525383534, rs190057175, rs2525360440, rs2525386608, rs2525462732, rs2525345840, rs2525343053, rs1176339464, rs2525475910, rs2525336277, rs2525429167, rs2525336107, rs2525345308, rs2525344095, rs1658353990, rs2525412110, rs2525451564, rs2525398475, rs764266244, rs2525428168, rs2525387215, rs2525475799, rs750620615, rs1057516903, rs1057516409, rs1057517355, rs1057517153, rs1553163206, rs386834024, rs1553162873, rs1553163360, rs1457667479, rs1268759044, rs1553163335, rs1553164129, rs1553162663, rs1553163077, rs386834010, rs1048865247, rs375431575, rs1553163721, rs1557673817, rs1557674267, rs1247668825, rs727504103, rs1571659306, rs1424631447, rs1571672866, rs386834035, rs386834012, rs386834015, rs138642840, rs386834018, rs386834019, rs386834022, rs386834028, rs386834029, rs386834031, rs386834034, rs1176001640, rs1658363329, rs150877512, rs1657864516, rs1657900739, rs1658278935, rs1658353874, rs749603354	RCV001378149 RCV001378957 RCV001377208 RCV001377653 RCV001390608 RCV001385029 RCV001868866 RCV001943142 RCV002012584 RCV002036661 RCV001922845 RCV001877535 RCV002010685 RCV002017559 RCV002048651 RCV001930101 RCV002004850 RCV001957168 RCV002035432 RCV001999720 RCV001939655 RCV001942185 RCV001908048 RCV002002554 RCV002018378 RCV001949569 RCV001866786 RCV003101338 RCV002465017 RCV003079779 RCV001377279 RCV000984302 RCV001370524 RCV001390610 RCV000824425 RCV000798530 RCV002584017 RCV002630262 RCV002631908 RCV002640059 RCV002756817 RCV002790550 RCV002820220 RCV002801769 RCV002824701 RCV002856160 RCV002846431 RCV002833620 RCV002861602 RCV002835375 RCV002872172 RCV002848232 RCV002867802 RCV002962860 RCV002970689 RCV002995547 RCV003026963 RCV003041930 RCV003049309 RCV000695969 RCV005030016 RCV005030046 RCV005021981 RCV005030047 RCV003782830 RCV003781525 RCV003792961 RCV003790527 RCV003787897 RCV003794352 RCV003791954 RCV003803557 RCV003804057 RCV003791124 RCV003802829 RCV003803070 RCV003800951 RCV003796896 RCV003800305 RCV003809189 RCV003810004 RCV003807470 RCV005015189 RCV001861383 RCV001377616 RCV001861396 RCV001377077 RCV001850958 RCV000648202 RCV002531334 RCV001855497 RCV001213624 RCV001855483 RCV003767958 RCV003767967 RCV003767988 RCV005019164 RCV005027796 RCV002530722 RCV003767947 RCV005870757 RCV001861750 RCV001244825 RCV002532050 RCV002533851 RCV005225138 RCV002536739 RCV000823735 RCV000806529 RCV000803088 RCV000796151 RCV000796490 RCV000375211 RCV003764721 RCV000648199 RCV002513695 RCV000818740 RCV000820354 RCV001853064 RCV002496726 RCV001043665 RCV001853065 RCV002514267 RCV001390609 RCV000984294 RCV001039421 RCV001047810 RCV001069566 RCV001049177 RCV001376853 RCV001245885 RCV001234616 RCV001228164 RCV001237031 RCV001229087 RCV002537679	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cervical cancer	Pathogenic	rs138642840	RCV005890363	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies	Pathogenic	rs138642840	RCV000501155	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer	Likely pathogenic	rs1553163335	RCV005901507	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydrocephalus	Pathogenic	rs1475539242	RCV002466682	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Likely pathogenic	rs1057517449	RCV005900641	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of esophagus	Pathogenic	rs138642840	RCV005890362	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscle eye brain disease	Likely pathogenic; Pathogenic	rs193919335, rs386834017, rs28940869, rs193919336, rs267606962, rs386834035, rs267606960, rs190057175, rs2525389456, rs2525428168, rs2525424712, rs1317832573, rs375431575, rs1424631447, rs386834012, rs386834013, rs386834015, rs138642840, rs386834016, rs386834018, rs386834019, rs386834020, rs386834021, rs386834022, rs386834024, rs386834023, rs386834025, rs386834026, rs386834027, rs386834028, rs386834029, rs386834031, rs386834032, rs386834033, rs386834034, rs386834037, rs386834038, rs386834039, rs386834040, rs1571655768, rs1658353874, rs749603354	RCV000169201 RCV000049998 RCV000984210 RCV000049989 RCV000671290 RCV000050018 RCV000411094 RCV000984296 RCV005608972 RCV005610619 RCV005610689 RCV000667582 RCV000674794 RCV005606711 RCV001275751 RCV000049991 RCV000049992 RCV000049994 RCV000049995 RCV000049996 RCV000049997 RCV000049999 RCV000050000 RCV000050001 RCV000050002 RCV000050003 RCV000050004 RCV000050005 RCV000050007 RCV000050008 RCV000050009 RCV000050010 RCV000050011 RCV000050012 RCV000050014 RCV000050015 RCV000050016 RCV000050017 RCV000050020 RCV000050021 RCV000050022 RCV000050023 RCV000050024 RCV000986314 RCV001828829 RCV001265639	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscular dystrophy-dystroglycanopathy	Pathogenic; Likely pathogenic	rs1434252108, rs752389406, rs1317832573, rs1557677980, rs1156647434, rs757322014, rs28940869, rs193919336, rs267606962, rs386834035, rs267606960, rs1557677834, rs190057175, rs749332339, rs1057516409, rs1057517355, rs375431575, rs727504103, rs1424631447, rs386834012, rs138642840, rs386834018, rs386834019, rs386834022, rs386834024, rs386834028, rs386834034, rs386834038, rs386834040, rs1176001640, rs150877512	RCV002551577 RCV002544254 RCV002550498 RCV002555611 RCV002564359 RCV002563625 RCV002512738 RCV002512739 RCV002512740 RCV002512741 RCV002512742 RCV002789963 RCV002518761 RCV002523855 RCV002523849 RCV002523877 RCV002531361 RCV002535998 RCV002534735 RCV002514260 RCV002514263 RCV002514264 RCV002514265 RCV002513696 RCV005411315 RCV002513697 RCV002514266 RCV002272048 RCV002513700 RCV002513701 RCV002554584 RCV002554853	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Likely pathogenic; Pathogenic	rs886044567, rs1657940058, rs2148167494, rs1317832573, rs2148166435, rs1302430730, rs2148192392, rs751274265, rs756316567, rs2148217590, rs2148218654, rs2525465896, rs2525437182, rs2525383254, rs2525428998, rs2525466855, rs752591703, rs2525411153, rs2525475600, rs2525388972, rs2525360577, rs2525429573, rs972657462, rs2525428064, rs2525462235, rs1048865247, rs2525475821, rs752497984, rs2525345067, rs2525355533, rs587777821, rs193919335, rs386834017, rs28942068, rs28940869, rs193919336, rs193919337, rs587777822, rs267606961, rs267606962, rs386834035, rs267606960, rs1658215085, rs2525387871, rs190057175, rs2525360440, rs1057516318, rs2525384059, rs1658103320, rs2525355640, rs2525463752, rs2525384071, rs2525437064, rs2525435346, rs2525386608, rs2525386642, rs2525462732, rs2525383655, rs2525345109, rs2525360161, rs2525392096, rs2525406050, rs2525465722, rs2525389456, rs2525345840, rs1476814352, rs367957647, rs2525476930, rs2525336107, rs2525424712, rs2525382839, rs2525430106, rs2525435882, rs750620615, rs1057517340, rs749332339, rs1057516986, rs1057516903, rs1057517422, rs1057516576, rs1057516409, rs1057517369, rs1057516955, rs1057516830, rs1057517247, rs1057517355, rs1057517449, rs1057516477, rs1057517153, rs1057516871, rs1057516478, rs1553162601, rs386834024, rs1553162873, rs1553163360, rs1457667479, rs1268759044, rs770219373, rs1553163335, rs1553164129, rs1553162663, rs1553163077, rs1553162872, rs1553163254, rs386834010, rs375431575, rs1553163590, rs1553163721, rs1557673817, rs1247668825, rs727504103, rs1571659306, rs1424631447, rs386834012, rs386834015, rs138642840, rs386834018, rs386834019, rs386834022, rs386834025, rs386834032, rs386834034, rs386834038, rs386834039, rs1176001640, rs150877512, rs1658353874, rs749603354	RCV005014515 RCV003462946 RCV005016823 RCV003464404 RCV005025619 RCV003464304 RCV005016945 RCV002052420 RCV002291307 RCV002244212 RCV002249138 RCV002306755 RCV002309744 RCV002307939 RCV002307959 RCV002308027 RCV002308147 RCV002308187 RCV002308269 RCV002308319 RCV002309058 RCV002309131 RCV002309302 RCV002309336 RCV002306889 RCV002310102 RCV002310239 RCV002310292 RCV002465017 RCV003459743 RCV001847568 RCV001847570 RCV001847571 RCV001847572 RCV001847573 RCV001847574 RCV001847575 RCV001847576 RCV001847577 RCV003322587 RCV003466805 RCV002476922 RCV003464601 RCV004572608 RCV002500958 RCV005030016 RCV003463345 RCV003471722 RCV003471723 RCV003463346 RCV003471724 RCV003463347 RCV003463348 RCV003471725 RCV003463349 RCV003471726 RCV003463350 RCV003471727 RCV003471728 RCV003463352 RCV003471729 RCV003463353 RCV003471730 RCV003471731 RCV003463354 RCV003471732 RCV003463355 RCV003463356 RCV004573327 RCV004574598 RCV004574599 RCV004574600 RCV004574601 RCV004574602 RCV005430340 RCV005430314 RCV004567886 RCV005430327 RCV005430346 RCV005430304 RCV004796161 RCV005430342 RCV005430328 RCV005430324 RCV005430292 RCV003463805 RCV003463807 RCV005430347 RCV003463789 RCV003463801 RCV005430326 RCV005430300 RCV005430749 RCV005430757 RCV005430592 RCV005430400 RCV003459586 RCV005430571 RCV003459601 RCV003465500 RCV003465534 RCV005430587 RCV005430572 RCV003459572 RCV004568495 RCV005430416 RCV005430818 RCV003465446 RCV001810481 RCV005430385 RCV005430433 RCV003465680 RCV003465709 RCV003461286 RCV005029484 RCV003461142 RCV003461088 RCV003460639 RCV005430115 RCV002295277 RCV005430480 RCV003460641 RCV002496725 RCV003460642 RCV001847643 RCV001810415 RCV003466918 RCV005406792 RCV003460643 RCV003460644 RCV003466920 RCV005029663 RCV001810495 RCV004570569 RCV003462842	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Likely pathogenic; Pathogenic	rs886044567, rs2148172518, rs1657940058, rs2148218654, rs1434252108, rs908815575, rs746196856, rs2148167494, rs1553163254, rs1317832573, rs1557677980, rs2148205473, rs2148166435, rs770219373, rs2148212111, rs1364587778, rs1156647434, rs2148222613, rs757322014, rs376973640, rs1302430730, rs2148192392, rs2148189653, rs1264635358, rs2148166991, rs2148192725, rs2148185606, rs2525345067, rs2525355533, rs587777821, rs28940869, rs193919336, rs193919337, rs267606962, rs386834035, rs267606960, rs1658064113, rs1038334168, rs2525436154, rs2525355372, rs1226108463, rs1658215085, rs2525403699, rs2525406886, rs2525476809, rs1658215662, rs1658367194, rs2525345375, rs2525463245, rs753827372, rs1057516477, rs2148184028, rs386834039, rs2525411630, rs1657824312, rs774349262, rs2525387871, rs2525336723, rs2525383534, rs190057175, rs2525360440, rs2525386608, rs2525462732, rs2525345840, rs2525343053, rs1176339464, rs2525475910, rs2525336277, rs2525429167, rs2525336107, rs2525345308, rs2525344095, rs1658353990, rs2525412110, rs2525451564, rs2525398475, rs764266244, rs2525428168, rs2525387215, rs2525475799, rs750620615, rs1057516903, rs1057516409, rs1057517355, rs1057517153, rs1553163206, rs386834024, rs1553162873, rs1553163360, rs1457667479, rs1268759044, rs1553163335, rs1553164129, rs1553162663, rs1553163077, rs1048865247, rs375431575, rs1553163721, rs1557673817, rs1557674267, rs1247668825, rs727504103, rs1571659306, rs1424631447, rs1571672866, rs386834012, rs386834015, rs138642840, rs386834018, rs386834019, rs386834022, rs386834028, rs386834029, rs386834031, rs386834034, rs1176001640, rs1658363329, rs150877512, rs1657864516, rs1657900739, rs1658278935, rs1658353874, rs749603354	RCV001378149 RCV001378957 RCV001377208 RCV001377653 RCV001390608 RCV001385029 RCV001868866 RCV001943142 RCV002012584 RCV002036661 RCV001922845 RCV001877535 RCV002010685 RCV002017559 RCV002048651 RCV001930101 RCV002004850 RCV001957168 RCV002035432 RCV001999720 RCV001939655 RCV001942185 RCV001908048 RCV002002554 RCV002018378 RCV001949569 RCV001866786 RCV003101338 RCV002465017 RCV003079779 RCV001377279 RCV000984301 RCV001370524 RCV001390610 RCV000004205 RCV000004206 RCV000004207 RCV002584017 RCV002630262 RCV002631908 RCV002640059 RCV002756817 RCV002790550 RCV002820220 RCV002801769 RCV002824701 RCV002856160 RCV002846431 RCV002833620 RCV002861602 RCV002835375 RCV002872172 RCV002848232 RCV002867802 RCV002962860 RCV002970689 RCV002995547 RCV003026963 RCV003041930 RCV003049309 RCV000695969 RCV005030016 RCV005030046 RCV005021981 RCV005030047 RCV003782830 RCV003781525 RCV003792961 RCV003790527 RCV003787897 RCV003794352 RCV003791954 RCV003803557 RCV003804057 RCV003791124 RCV003802829 RCV003803070 RCV003800951 RCV003796896 RCV003800305 RCV003809189 RCV003810004 RCV003807470 RCV005015189 RCV001861383 RCV001377616 RCV001861396 RCV001377077 RCV001850958 RCV000648202 RCV002531334 RCV001855497 RCV001213624 RCV001855483 RCV003767958 RCV003767967 RCV003767988 RCV005019164 RCV005027796 RCV002530722 RCV003767947 RCV001861750 RCV001244825 RCV002532050 RCV002533851 RCV005225138 RCV002536739 RCV000823735 RCV000806529 RCV000803088 RCV000796151 RCV000796490 RCV001853063 RCV003764721 RCV000648199 RCV002513695 RCV000818740 RCV000820354 RCV001853064 RCV002496726 RCV001043665 RCV001853065 RCV002514267 RCV001390609 RCV000408610 RCV001039421 RCV001047810 RCV001069566 RCV001049177 RCV001376853 RCV001245885 RCV001234616 RCV001228164 RCV001237031 RCV001229087 RCV002537679	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myopathy caused by variation in POMGNT1	Pathogenic	rs138642840	RCV002470740	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs386834035	RCV005887283	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
POMGNT1-related disorder	Likely pathogenic; Pathogenic	rs1657940058, rs267606960, rs2525360440, rs1317832573, rs386834012, rs138642840	RCV004531186 RCV004532285 RCV004528742 RCV004723051 RCV000292476 RCV000323217	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs1317832573, rs28940869, rs138642840	RCV004816946 RCV004814821 RCV004814990	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa 76	Likely pathogenic; Pathogenic	rs886044567, rs2148167494, rs1317832573, rs2148166435, rs2148192392, rs2525345067, rs2525355533, rs28940869, rs193919336, rs193919337, rs267606960, rs886037947, rs886037948, rs886037949, rs190057175, rs2525360440, rs2525386608, rs2525462732, rs2525345840, rs750620615, rs1057516903, rs1057516409, rs1057516477, rs1553163335, rs1553164129, rs375431575, rs1247668825, rs1571659306, rs386834035, rs386834012, rs138642840, rs386834019, rs267606962, rs386834022, rs386834024, rs386834034, rs386834039, rs1176001640, rs150877512	RCV005014515 RCV005016823 RCV005025683 RCV005025619 RCV005016945 RCV005019210 RCV005863807 RCV000984303 RCV005862697 RCV000240891 RCV002476922 RCV000240928 RCV000240894 RCV000240931 RCV000984299 RCV005030016 RCV005030046 RCV005021981 RCV005030047 RCV005015189 RCV002488839 RCV004796161 RCV005018701 RCV005019164 RCV005027796 RCV005019166 RCV005021162 RCV005029484 RCV005029460 RCV000983991 RCV000763345 RCV001542522 RCV005016346 RCV002496726 RCV000240866 RCV000984295 RCV000984205 RCV005029663 RCV005021438	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Autism spectrum disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ 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, alpha-dystroglycan related	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Limb-girdle muscular dystrophy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMB-GIRDLE MUSCULAR DYSTROPHY AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-girdle muscular dystrophy, recessive	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LISSENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LISSENCEPHALY TYPE 2 WITH MUSCULAR AND OCULAR INVOLVEMENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACROGYRIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCLE-EYE-BRAIN DISEASE	—	GenCC, Orphanet GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCULAR DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular dystrophy-dystroglycanopathy type B6	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Papillary renal cell carcinoma type 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Phenylketonuria	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa	Uncertain significance	ClinVar Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Structural eye disease	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WALKER-WARBURG CONGENITAL MUSCULAR DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WALKER-WARBURG SYNDROME	—	CTD, Orphanet CTD, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	30943920		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
alpha-Dystroglycanopathies	alpha-Dystroglycanopathy	BEFREE	20816175, 21496628, 28765568		★☆☆☆☆ Found in Text Mining only
alpha-Dystroglycanopathies	alpha-Dystroglycanopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	23352163		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Diseases	Brain disease	Pubtator	40244109	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	30943920		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cobblestone Lissencephaly	Cobblestone Lissencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	12849864		★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital keratoglobus	Congenital Keratoglobus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital meningocele	Congenital Meningocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	BEFREE	12966029, 17030669, 18195152, 18330676		★☆☆☆☆ 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 ocular coloboma (disorder)	Congenital ocular coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	LHGDN	12467726		★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	26783077		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	17878207, 18195152, 22419172, 24120487, 26908613, 27391550		★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	28765568	Associate	★☆☆☆☆ Found in Text Mining only
Fukuyama Type Congenital Muscular Dystrophy	Fukuyama Type Congenital Muscular Dystrophy	BEFREE	12369018, 12893968		★☆☆☆☆ Found in Text Mining only
Fukuyama Type Congenital Muscular Dystrophy	Fukuyama Type Congenital Muscular Dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29048655, 30943920		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29048655, 30943920		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	12588800		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydrocephalus	Hydrocephalus	Pubtator	35843586	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydrocephalus Normal Pressure	Normal pressure hydrocephalus	Pubtator	34360799	Associate	★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Glaucoma, congenital	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the retina	Hypoplasia of the retina	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	LHGDN	12467726		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	BEFREE	18195152		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Keratoconus	Keratoconus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development Group II	Cortical development malformation	Pubtator	11709191	Associate	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	14656076, 30943920		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	18195152		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	19452620		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscle eye brain disease	Muscle Eye Brain Disease	BEFREE	11709191, 12588800, 12788071, 12849864, 12925572, 14646163, 17030669, 17154333, 17881266, 17906881, 18195152, 21361872, 22554691, 23689641, 24282183, 24731844, 27375352, 28765568		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscle eye brain disease	Muscle Eye Brain Disease	CLINVAR_DG	11709191, 12588800, 12788071, 12849864, 15236414, 15466003, 16427280, 17030669, 17154333, 17559086, 17878207, 17906881, 18330676, 19067344, 19299310, 19679478, 20215985, 21361872, 22323514, 22522420, 22554691, 23326386, 23453855, 23689641, 24731844, 25390965, 25525159, 27493216		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscle eye brain disease	Muscle Eye Brain Disease	ORPHANET_DG	12788071		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscle eye brain disease	Muscle Eye Brain Disease	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscle-eye-brain disease	Muscle Eye Brain Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	17878207, 18195152, 21496628, 22419172		★☆☆☆☆ 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	12467726		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy	Muscular dystrophy	BEFREE	18195152, 19067344, 20234391, 20682766, 22419172, 27391550		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K	Limb-girdle muscular dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1	Muscular Dystrophy-Dystroglycanopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3	Muscular Dystrophy-Dystroglycanopathy	UNIPROT_DG	11709191, 12588800, 12788071, 15207699, 15236414, 15466003, 17030669, 19067344		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3	Muscular Dystrophy-Dystroglycanopathy	GENOMICS_ENGLAND_DG	12588800, 17878207, 19067344, 19679478, 22419172, 27421908, 27604308		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3	Muscular Dystrophy-Dystroglycanopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3	Muscular Dystrophy-Dystroglycanopathy	CLINVAR_DG	11709191, 15236414, 15466003, 17030669, 17559086, 17878207, 17906881, 18330676, 19299310, 19679478, 21361872, 22323514, 22554691, 23326386, 23689641, 24282183, 24731844, 25390965, 26938784, 28424332		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3	Muscular Dystrophy-Dystroglycanopathy	GENOMICS_ENGLAND_DG	12588800, 22419172		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3	Muscular Dystrophy-Dystroglycanopathy	UNIPROT_DG	17030669, 19067344, 19299310		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3	Muscular Dystrophy-Dystroglycanopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy	CLINVAR_DG	11709191, 15236414, 15466003, 17030669, 17559086, 17878207, 17906881, 18330676, 19299310, 19679478, 21361872, 22323514, 22554691, 23326386, 23689641, 24282183, 24731844, 25390965, 28424332		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy	GENOMICS_ENGLAND_DG	12588800, 22419172, 27421908, 27604308		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy	ORPHANET_DG	18195152		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy	UNIPROT_DG	18195152		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	16857188		★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	34239500	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Occipital Encephalocele	Occipital Encephalocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pachygyria	Pachygyria	CLINVAR_DG	26938784		★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	CLINVAR_DG	26938784		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
POMGNT1-related limb-girdle muscular dystrophy R15	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	27391550		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	40244109	Associate	★☆☆☆☆ 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	BEFREE	26908613, 27391550		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa	Retinitis Pigmentosa	ORPHANET_DG	26908613		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 76	Retinitis Pigmentosa	CLINVAR_DG	11709191, 15236414, 15466003, 17030669, 17559086, 17906881, 18330676, 19299310, 21361872, 22323514, 22554691, 23326386, 25390965, 28688748		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 76	Retinitis Pigmentosa	UNIPROT_DG	26908613, 27391550		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 76	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG	27421908, 27604308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 76	Retinitis Pigmentosa	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	18195152		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	CLINVAR_DG	26938784		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Submucous cleft of hard palate	Submucosal cleft palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Walker-Warburg congenital muscular dystrophy	Walker-Warburg Congenital Muscular Dystrophy	BEFREE	12588800, 12925572		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Walker-Warburg congenital muscular dystrophy	Walker-Warburg Congenital Muscular Dystrophy	ORPHANET_DG	19299310		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Walker-Warburg congenital muscular dystrophy	Walker-Warburg Congenital Muscular Dystrophy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Walker-Warburg syndrome	Walker-Warburg Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations