CRPPA (CDP-L-ribitol pyrophosphorylase A)

Gene

• Entrez ID: 729920
• Gene name: CDP-L-ribitol pyrophosphorylase A
• Gene symbol: CRPPA
• Synonyms (NCBI Gene): ISPD, LGMDR20, MDDGA7, MDDGC7, Nip, hISPD
• Chromosome: 7
• Chromosome location: 7p21.2
• Summary: This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs148054819	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs186882839	A>G,T	Pathogenic	Non coding transcript variant, terminator codon variant, stop lost
rs201334104	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, intron variant
rs368593151	G>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs370627877	G>A,T	Pathogenic, uncertain-significance, not-provided	Missense variant, intron variant, coding sequence variant, non coding transcript variant, stop gained
rs376195897	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs376411072	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, intron variant
rs377582530	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs387907160	G>C,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, intron variant
rs387907161	T>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs387907162	C>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397514547	C>G,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397514548	T>A,C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, stop gained
rs397515397	A>C	Pathogenic	Splice donor variant, intron variant
rs397515398	AAT>-	Likely-pathogenic, pathogenic, uncertain-significance	Non coding transcript variant, inframe deletion, coding sequence variant
rs397515408	A>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, intron variant
rs397515409	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, intron variant
rs532057629	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, synonymous variant, coding sequence variant, intron variant
rs558064127	T>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs587777797	C>A,G	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs761842188	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs763209907	T>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs767978961	C>G	Likely-pathogenic, pathogenic	Splice acceptor variant
rs773325665	A>G	Likely-pathogenic	Splice donor variant, intron variant
rs886041302	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs886043573	T>A,C	Pathogenic	Missense variant, non coding transcript variant, initiator codon variant
rs1048457038	C>-	Pathogenic-likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1202301143	C>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1466053365	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs1466219701	G>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs1472549168	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs1554305719	TATCTTCTTCTGT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554320168	A>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1554371369	C>-,CC	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	26687144
GO:0005829	Component	Cytosol	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0008299	Process	Isoprenoid biosynthetic process	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0035269	Process	Protein O-linked glycosylation via mannose	IBA
GO:0035269	Process	Protein O-linked glycosylation via mannose	IMP	22522420, 22522421
GO:0042803	Function	Protein homodimerization activity	IDA	26687144
GO:0047349	Function	D-ribitol-5-phosphate cytidylyltransferase activity	IBA
GO:0047349	Function	D-ribitol-5-phosphate cytidylyltransferase activity	IDA	26687144
GO:0047349	Function	D-ribitol-5-phosphate cytidylyltransferase activity	IEA
GO:0070567	Function	Cytidylyltransferase activity	IDA	26687144
GO:0070567	Function	Cytidylyltransferase activity	IEA

Other IDs

• MIM: 614631
• HGNC: 37276
• e!Ensembl: ENSG00000214960

Protein

• UniProt ID: A4D126
• Protein name: D-ribitol-5-phosphate cytidylyltransferase (EC 2.7.7.40) (2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein) (Isoprenoid synthase domain-containing protein) (hISPD)
• Protein function: Cytidylyltransferase required for protein O-linked mannosylation (PubMed:22522420, PubMed:22522421, PubMed:26687144, PubMed:26923585, PubMed:27130732, PubMed:27601598). Catalyzes the formation of CDP-ribitol nucleotide sugar from D-ribitol 5-pho
• PDB: 4CVH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01128	IspD	47 → 279	2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase	Family
  PF18706	ISPD_C	283 → 451	D-ribitol-5-phosphate cytidylyltransferase C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed, with high expression in brain. {ECO:0000269|PubMed:22522420}.
• Sequence:

  MEAGPPGSARPAEPGPCLSGQRGADHTASASLQSVAGTEPGRHPQAVAAVLPAGGCGERM
  GVPTPKQFCPILERPLISYTLQALERVCWIKDIVVAVTGENMEVMKSIIQKYQHKRISLV
  EAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRPFVEEGVLLKVVTAAKEHGAA
  GAIRPLVSTVVSPSADGCLDYSLERARHRASEMPQAFLFDVIYEAYQQCSDYDLEFGTEC
  LQLALKYCCTKAKLVEGSPDLWKVTYKRDLYAAESIIKERISQEICVVMDTEEDNKHVGH
  LLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLLSMLEE
  SSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKEVKERNILLYGLLISYPQDDQ
  KLQESLRQGAIIIASLIKERNSGLIGQLLIA

• Sequence length: 451

Pathways

KEGG:

Pentose and glucuronate interconversions
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
Autosomal recessive limb-girdle muscular dystrophy type 2U	Pathogenic; Likely pathogenic	rs370499190, rs2128321525, rs587777797, rs587777798, rs2128321527, rs1157302803, rs2546759145, rs2546759287, rs1420940583, rs1418861315, rs886041302, rs370627877, rs767978961, rs748007203, rs2546652810, rs2546759308, rs397515396, rs368593151, rs1048457038, rs1554305719, rs773325665, rs1466219701, rs1583487698, rs1554371369, rs1453431411, rs781097746, rs1282788711, rs1784247205	RCV001390079 RCV002471170 RCV000144515 RCV000144516 RCV002238368 RCV003051155 RCV002770214 RCV002967035 RCV002982638 RCV003047070 RCV000650388 RCV002229838 RCV000548174 RCV003787526 RCV003788266 RCV003792466 RCV000650387 RCV005222703 RCV002525923 RCV000532194 RCV000706360 RCV000813269 RCV000793995 RCV002549285 RCV001234441 RCV001226801 RCV001232279 RCV001228819	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital muscular dystrophy due to integrin alpha-7 deficiency	Pathogenic	rs1554320168	RCV000626153	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CRPPA-related disorder	Likely pathogenic	rs776803163	RCV003314258	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ISPD-related disorder	Pathogenic	rs370627877	RCV000844945	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular dystrophy-dystroglycanopathy	Pathogenic	rs1554371369	RCV000500653	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	Pathogenic; Likely pathogenic	rs370499190, rs2128422954, rs587777798, rs2128321527, rs2546749179, rs1157302803, rs2546759145, rs2546759287, rs1420940583, rs1418861315, rs886041302, rs370627877, rs886042554, rs767978961, rs748007203, rs2546652810, rs2546759308, rs2546749070, rs397515396, rs397515397, rs387907160, rs387907161, rs387907162, rs368593151, rs1048457038, rs1554305719, rs397515408, rs397514547, rs397514548, rs773325665, rs1466219701, rs1583487698, rs1554371369, rs1453431411, rs781097746, rs1282788711, rs1784247205	RCV001390079 RCV001844361 RCV002228673 RCV002238368 RCV002471798 RCV003051155 RCV002770214 RCV002967035 RCV002982638 RCV003047070 RCV000650388 RCV002229838 RCV001330286 RCV000548174 RCV003787526 RCV003788266 RCV003792466 RCV003883224 RCV000024269 RCV000024271 RCV000024273 RCV000024274 RCV000024275 RCV000024276 RCV002525923 RCV000532194 RCV000032809 RCV000032811 RCV000032813 RCV000706360 RCV000813269 RCV000793995 RCV002549285 RCV001234441 RCV001226801 RCV001232279 RCV001228819	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	Likely pathogenic; Pathogenic	rs587777798	RCV000714703	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2U	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARPAL TUNNEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CMD DUE TO DYSTROGLYCANOPATHY	—	Disgenet	★★☆☆☆ 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 Muscular Dystrophy, alpha-dystroglycan related	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DRY EYE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HUNTINGTON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROCEPHALUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC OSTEONECROSIS OF THE FEMORAL HEAD	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ 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	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	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
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	CTD_human_DG	22522420, 22522421		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	28711793		★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aqueductal Stenosis	Aqueductal Stenosis	CTD_human_DG	22522421		★☆☆☆☆ Found in Text Mining only
Bradyarrhythmia (disorder)	Bradyarrhythmia	BEFREE	30764634		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	23288328	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26220087	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	HPO_DG			★☆☆☆☆ 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	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular Trauma	Cerebrovascular trauma	Pubtator	23217329	Associate	★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cobblestone Lissencephaly	Cobblestone Lissencephaly	BEFREE	23217329		★☆☆☆☆ Found in Text Mining only
Cobblestone Lissencephaly	Cobblestone lissencephaly	Pubtator	23217329	Associate	★☆☆☆☆ Found in Text Mining only
Cobblestone Lissencephaly	Cobblestone Lissencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Communicating Hydrocephalus	Communicating Hydrocephalus	CTD_human_DG	22522421		★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Hydrocephalus	Congenital Hydrocephalus	CTD_human_DG	22522421		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	BEFREE	23288328		★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	GENOMICS_ENGLAND_DG	23288328		★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy without intellectual disability	Congenital Muscular Dystrophy Without Intellectual Disability	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital small ears	Microtia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	26220087		★☆☆☆☆ 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
Fetal Cerebral Ventriculomegaly	Fetal Cerebral Ventriculomegaly	CTD_human_DG	22522421		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fukuyama Type Congenital Muscular Dystrophy	Fukuyama Type Congenital Muscular Dystrophy	CTD_human_DG	22522420, 22522421		★☆☆☆☆ 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
Hydrocephalus	Hydrocephalus	CTD_human_DG	22522421		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrocephalus	Hydrocephalus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrocephalus Ex-Vacuo	Hydrocephalus Ex-Vacuo	CTD_human_DG	22522421		★☆☆☆☆ 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
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
ISPD-related limb-girdle muscular dystrophy R20	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Limb-girdle muscle atrophy	Limb-girdle muscle atrophy	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
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	CTD_human_DG	22522420, 22522421		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	23288328, 25444434, 26404900, 31066050, 31375477		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	GENOMICS_ENGLAND_DG	23288328		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	24120487		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Muscular Dystrophy, Congenital	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K	Limb-girdle muscular dystrophy	CTD_human_DG	22522420, 22522421		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1	Muscular Dystrophy-Dystroglycanopathy	CTD_human_DG	22522420, 22522421		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7	Muscular Dystrophy-Dystroglycanopathy	CLINVAR_DG	22522420, 22522421, 2328832, 23288328, 2522420		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7	Muscular Dystrophy-Dystroglycanopathy	UNIPROT_DG	22522420, 22522421, 23217329, 23288328, 24120487		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7	Muscular Dystrophy-Dystroglycanopathy	GENOMICS_ENGLAND_DG	22522420, 22522421, 24120487, 26687144, 9492098		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy	CLINVAR_DG	22522420, 22522421, 2328832, 23288328, 2522420		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy	GENOMICS_ENGLAND_DG	22522420, 23288328, 26687144		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy	UNIPROT_DG	23288328, 23390185, 27234031		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy	ORPHANET_DG	23288328		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	CTD_human_DG	22522421		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	BEFREE	31375477		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	23217329		★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obstructive Hydrocephalus	Obstructive Hydrocephalus	CTD_human_DG	22522421		★☆☆☆☆ 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
Partial agenesis of corpus callosum	Partial Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Persistent Hyperplastic Primary Vitreous	Persistent Hyperplastic Primary Vitreous	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
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
Specific learning disability	Specific Learning Disorder	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	22522420		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Walker-Warburg congenital muscular dystrophy	Walker-Warburg Congenital Muscular Dystrophy	CTD_human_DG	22522420, 22522421		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Walker-Warburg congenital muscular dystrophy	Walker-Warburg Congenital Muscular Dystrophy	BEFREE	22522421, 23288328, 24120487, 26087224, 31375477		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Walker-Warburg congenital muscular dystrophy	Walker-Warburg Congenital Muscular Dystrophy	GENOMICS_ENGLAND_DG	24120487		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Walker-Warburg syndrome	Walker-Warburg Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations