LARGE1 (LARGE xylosyl- and glucuronyltransferase 1)

Gene

• Entrez ID: 9215
• Gene name: LARGE xylosyl- and glucuronyltransferase 1
• Gene symbol: LARGE1
• Synonyms (NCBI Gene): LARGE, MDC1D, MDDGA6, MDDGB6
• Chromosome: 22
• Chromosome location: 22q12.3
• Summary: This gene encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains.

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs12627793	G>A	Conflicting-interpretations-of-pathogenicity, benign	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant
rs56239539	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs121908675	C>A,T	Pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs141089495	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant, intron variant
rs141818070	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs144045461	C>T	Uncertain-significance, likely-pathogenic	Intron variant, non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs144216539	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant, genic upstream transcript variant
rs145048151	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant, genic upstream transcript variant
rs146552975	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant, genic upstream transcript variant
rs267607209	A>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs267607210	G>A,C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs372629986	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, genic downstream transcript variant, missense variant, synonymous variant, coding sequence variant
rs398124181	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs563144239	A>C	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs727503994	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs748508322	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, intron variant, coding sequence variant, genic downstream transcript variant
rs761071115	G>A,T	Pathogenic	Synonymous variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs1569112355	->TT	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1602190224	C>A	Pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, missense variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS	9892679
GO:0001568	Process	Blood vessel development	IEA
GO:0001662	Process	Behavioral fear response	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0005515	Function	Protein binding	IPI	19587235
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA	25279699
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006044	Process	N-acetylglucosamine metabolic process	TAS	9892679
GO:0006486	Process	Protein glycosylation	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006486	Process	Protein glycosylation	IMP	32975514
GO:0006486	Process	Protein glycosylation	TAS	9892679
GO:0006493	Process	Protein O-linked glycosylation	IEA
GO:0006493	Process	Protein O-linked glycosylation	TAS
GO:0006612	Process	Protein targeting to membrane	IEA
GO:0006688	Process	Glycosphingolipid biosynthetic process	TAS	9892679
GO:0006833	Process	Water transport	IEA
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006941	Process	Striated muscle contraction	IEA
GO:0007009	Process	Plasma membrane organization	IEA
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007274	Process	Neuromuscular synaptic transmission	IEA
GO:0007420	Process	Brain development	IEA
GO:0007507	Process	Heart development	IEA
GO:0007517	Process	Muscle organ development	IEA
GO:0007528	Process	Neuromuscular junction development	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007613	Process	Memory	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0008375	Function	Acetylglucosaminyltransferase activity	TAS	9892679
GO:0009100	Process	Glycoprotein metabolic process	IEA
GO:0009101	Process	Glycoprotein biosynthetic process	IEA
GO:0009101	Process	Glycoprotein biosynthetic process	TAS	9892679
GO:0009416	Process	Response to light stimulus	IEA
GO:0009612	Process	Response to mechanical stimulus	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010842	Process	Retina layer formation	IEA
GO:0014902	Process	Myotube differentiation	IEA
GO:0015020	Function	Glucuronosyltransferase activity	IBA
GO:0015020	Function	Glucuronosyltransferase activity	IDA	22223806, 25279697, 25279699
GO:0015020	Function	Glucuronosyltransferase activity	IEA
GO:0015020	Function	Glucuronosyltransferase activity	TAS
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	TAS	9892679
GO:0016758	Function	Hexosyltransferase activity	IDA	32975514
GO:0016758	Function	Hexosyltransferase activity	IEA
GO:0021542	Process	Dentate gyrus development	IEA
GO:0021675	Process	Nerve development	IEA
GO:0021740	Process	Principal sensory nucleus of trigeminal nerve development	IEA
GO:0030145	Function	Manganese ion binding	IDA	25138275
GO:0030145	Function	Manganese ion binding	IEA
GO:0030225	Process	Macrophage differentiation	IEA
GO:0031594	Component	Neuromuscular junction	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0035129	Process	Post-embryonic hindlimb morphogenesis	IEA
GO:0035252	Function	UDP-xylosyltransferase activity	IEA
GO:0035252	Function	UDP-xylosyltransferase activity	TAS
GO:0035264	Process	Multicellular organism growth	IEA
GO:0035269	Process	Protein O-linked glycosylation via mannose	IBA
GO:0035269	Process	Protein O-linked glycosylation via mannose	IDA	22223806, 25138275, 25279697, 25279699
GO:0035269	Process	Protein O-linked glycosylation via mannose	IEA
GO:0036211	Process	Protein modification process	IEA
GO:0042285	Function	Xylosyltransferase activity	IBA
GO:0042285	Function	Xylosyltransferase activity	IDA	22223806, 25279697
GO:0042285	Function	Xylosyltransferase activity	IEA
GO:0042552	Process	Myelination	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IEA
GO:0043403	Process	Skeletal muscle tissue regeneration	IEA
GO:0043403	Process	Skeletal muscle tissue regeneration	ISS
GO:0043687	Process	Post-translational protein modification	IEA
GO:0046716	Process	Muscle cell cellular homeostasis	IEA
GO:0046716	Process	Muscle cell cellular homeostasis	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048167	Process	Regulation of synaptic plasticity	IEA
GO:0048708	Process	Astrocyte differentiation	IEA
GO:0048738	Process	Cardiac muscle tissue development	IEA
GO:0048741	Process	Skeletal muscle fiber development	IEA
GO:0050808	Process	Synapse organization	IEA
GO:0050884	Process	Neuromuscular process controlling posture	IEA
GO:0050905	Process	Neuromuscular process	IEA
GO:0051124	Process	Synaptic assembly at neuromuscular junction	IEA
GO:0051674	Process	Localization of cell	IEA
GO:0055002	Process	Striated muscle cell development	IEA
GO:0055013	Process	Cardiac muscle cell development	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060173	Process	Limb development	IEA
GO:0060291	Process	Long-term synaptic potentiation	IEA
GO:0060348	Process	Bone development	IEA
GO:0060538	Process	Skeletal muscle organ development	IEA
GO:0060538	Process	Skeletal muscle organ development	ISS
GO:0061298	Process	Retina vasculature development in camera-type eye	IEA
GO:0061448	Process	Connective tissue development	IEA
GO:0065003	Process	Protein-containing complex assembly	IEA
GO:0071711	Process	Basement membrane organization	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0072657	Process	Protein localization to membrane	IEA
GO:0072659	Process	Protein localization to plasma membrane	IEA
GO:0090659	Process	Walking behavior	IEA
GO:0095500	Process	Acetylcholine receptor signaling pathway	IEA
GO:0098528	Process	Skeletal muscle fiber differentiation	IEA
GO:0150103	Process	Reactive gliosis	IEA

Other IDs

• MIM: 603590
• HGNC: 6511
• e!Ensembl: ENSG00000133424

Protein

• UniProt ID: O95461
• Protein name: Xylosyl- and glucuronyltransferase LARGE1 (EC 2.4.-.-) (Acetylglucosaminyltransferase-like 1A) (Glycosyltransferase-like protein) (LARGE xylosyl- and glucuronyltransferase 1) [Includes: Alpha-1,3-xylosyltransferase LARGE1 (EC 2.4.2.-); Beta-1,3-glucuronyl
• Protein function: Bifunctional glycosyltransferase with both alpha-1,3-xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the maturation of alpha-dystroglycan (DAG1) by glycosylation leading to DAG1 binding to laminin G-like domain-conta
• PDB: 7UI6, 7UI7, 7ZVJ, 9E1T
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01501	Glyco_transf_8	140 → 387	Glycosyl transferase family 8	Family
  PF13896	Glyco_transf_49	473 → 540		Domain
  PF13896	Glyco_transf_49	535 → 743		Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. Highest expression in heart, brain and skeletal muscle. {ECO:0000269|PubMed:15752776}.
• Sequence:

  MLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQR
  ERESLEVRMREVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVA
  GNSSECGQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQ
  ILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIV
  LDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGNLWKNHRPWPALGRGYNTGVI
  LLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVYQLPCFWNVQL
  SDHTRSEQCYRDVSDLKVIHWNSPKKLRVKNKHVEFFRNLYLTFLEYDGNLLRRELFGCP
  SEADVNSENLQKQLSELDEDDLCYEFRRERFTVHRTHLYFLHYEYEPAADSTDVTLVAQL
  SMDRLQMLEAICKHWEGPISLALYLSDAEAQQFLRYAQGSEVLMSRHNVGYHIVYKEGQF
  YPVNLLRNVAMKHISTPYMFLSDIDFLPMYGLYEYLRKSVIQLDLANTKKAMIVPAFETL
  RYRLSFPKSKAELLSMLDMGTLFTFRYHVWTKGHAPTNFAKWRTATTPYRVEWEADFEPY
  VVVRRDCPEYDRRFVGFGWNKVAHIMELDVQEYEFIVLPNAYMIHMPHAPSFDITKFRSN
  KQYRICLKTLKEEFQQDMSRRYGFAALKYLTAENNS

• Sequence length: 756

Pathways

KEGG:

Mannose type O-glycan biosynthesis
Metabolic pathways

Reactome:

Defective LARGE causes MDDGA6 and MDDGB6
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
LARGE1-Related Disorders	Likely pathogenic; Pathogenic	rs121908675	RCV005417419	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6	Pathogenic; Likely pathogenic	rs267607209, rs267607210, rs761071115, rs1569112355	RCV000006597 RCV000006599 RCV000585698 RCV000681481	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular dystrophy-dystroglycanopathy type B6	Likely pathogenic; Pathogenic	rs2147722687, rs2148785084, rs1359437833, rs1938637889, rs2145893296, rs898695674, rs749974211, rs2546646853, rs121908675, rs1929471370, rs2518914515, rs772985451, rs2065252717, rs1381780038, rs2080768582, rs2520889050, rs2065175772, rs2080771312, rs758620411, rs2519156797, rs2546646656, rs2546647342, rs2547094272, rs761071115, rs1934564024, rs146078928	RCV001377038 RCV001381780 RCV001941784 RCV001870701 RCV001993296 RCV002010439 RCV002614590 RCV002700645 RCV000006594 RCV000006595 RCV003447889 RCV003508004 RCV003507607 RCV003508323 RCV003508965 RCV003506918 RCV003616063 RCV003616218 RCV003616537 RCV003616680 RCV003616714 RCV003616817 RCV003820289 RCV003879078 RCV005091527 RCV001205825 RCV001239849	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Pathogenic	rs1602190224	RCV000993852	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CMD DUE TO DYSTROGLYCANOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MUSCULAR DYSTROPHY WITH INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Muscular Dystrophy, alpha-dystroglycan related	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARGE1-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCLE EYE BRAIN DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCLE-EYE-BRAIN DISEASE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular dystrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Walker-Warburg congenital muscular dystrophy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
WALKER-WARBURG SYNDROME	—	CTD, Orphanet CTD, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agyria	Agyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
alpha-Dystroglycanopathies	alpha-Dystroglycanopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	30553274		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	35115049	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cobblestone Lissencephaly	Cobblestone Lissencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital contracture	Congenital contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital keratoglobus	Congenital Keratoglobus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital meningocele	Congenital Meningocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	BEFREE	12966029, 15229394, 15833424, 21248746, 21862561		★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy with intellectual disability	Congenital Muscular Dystrophy With Intellectual Disability	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	29926116	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29926116		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	GWASDB_DG	21150874		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fukuyama Type Congenital Muscular Dystrophy	Fukuyama Type Congenital Muscular Dystrophy	BEFREE	15229394		★☆☆☆☆ 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	Pubtator	31751860	Associate	★☆☆☆☆ 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
Horizontal Nystagmus	Horizontal nystagmus	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
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	GENOMICS_ENGLAND_DG	21248746		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Irido-corneo-trabecular dysgenesis (disorder)	Anterior segment dysgenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	CTD_human_DG	19233941		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	27479909		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	19233941		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	9892679		★☆☆☆☆ Found in Text Mining only
Meningoencephalocele	Meningoencephalocele	HPO_DG			★☆☆☆☆ 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
Muscle eye brain disease	Muscle Eye Brain Disease	ORPHANET_DG	19067344		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscle eye brain disease	Muscle Eye Brain Disease	BEFREE	20044576		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscle eye brain disease	Muscle Eye Brain Disease	GENOMICS_ENGLAND_DG	21248746		★★☆☆☆ 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 Dystrophy	Muscular dystrophy	BEFREE	15661757, 24132234, 30553274		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Muscular Dystrophy, Congenital, Type 1D	Congenital Muscular Dystrophy	GENOMICS_ENGLAND_DG	12966029, 21248746, 24709677, 27421908, 27604308		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Congenital, Type 1D	Congenital Muscular Dystrophy	UNIPROT_DG	12966029		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Congenital, Type 1D	Congenital Muscular Dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Congenital, Type 1D	Congenital Muscular Dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	30553274		★☆☆☆☆ 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	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6	Muscular Dystrophy-Dystroglycanopathy	GENOMICS_ENGLAND_DG	12966029, 21248746, 24709677, 27421908, 27604308		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6	Muscular Dystrophy-Dystroglycanopathy	UNIPROT_DG	19067344, 19299310, 24709677		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6	Muscular Dystrophy-Dystroglycanopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	29226240		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28099801, 29025731, 9892679		★☆☆☆☆ Found in Text Mining only
Occipital Encephalocele	Occipital Encephalocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	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			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	31054580		★☆☆☆☆ 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
Spasms Infantile	Infantile spasms	Pubtator	25268096	Associate	★☆☆☆☆ 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	ORPHANET_DG	19299310, 21727005		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Walker-Warburg congenital muscular dystrophy	Walker-Warburg Congenital Muscular Dystrophy	GENOMICS_ENGLAND_DG	21248746		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Walker-Warburg congenital muscular dystrophy	Walker-Warburg Congenital Muscular Dystrophy	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Walker-Warburg syndrome	Walker-Warburg Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations