##Database=<ID=cust002-AD.txt,Version=19.0,Date=20150313,Acronym=AD-1.0-141202,Complete_name=Alfa	Dystroglykanopathy,Clinical_db_genome_build=GRCh37.p13
#Chromosome	Gene_start	Gene_stop	HGNC_symbol	Protein_name	Symptoms	Biochemistry	Imaging	Disease_trivial_name	Trivial_name_short	Phenotypic_disease_model	OMIM_morbid	Gene_locus	UniProt_id	Ensembl_gene_id	Ensemble_transcript_ID	Reduced_penetrance	Clinical_db_gene_annotation	Disease_associated_transcript	Ensembl_transcript_to_refseq_transcript	Gene_description
19	47249303	47280245	FKRP	FKRP:613153>AR|606612>AR|607155>AR	FKRP:606596	19q13.32	ENSG00000181027	AD-1.0-141202	FKRP:ENST00000318584>NM_001039885/NM_024301/XM_005259246/XM_005259247/XM_005259248/XM_005259249/XM_005259250/XM_005259251/XM_005259252/XM_005259253|ENST00000391909|ENST00000593800|ENST00000593875|ENST00000593877|ENST00000593902|ENST00000593995|ENST00000594467|ENST00000595570|ENST00000595868|ENST00000596460|ENST00000596974|ENST00000597313|ENST00000597339|ENST00000597403|ENST00000598271|ENST00000600005|ENST00000600227|ENST00000600629|ENST00000600646|ENST00000600681|ENST00000600834|ENST00000600872|ENST00000600977|ENST00000601299|ENST00000602181|ENST00000602250	FKRP:fukutin_related_protein
9	108320411	108403399	FKTN	FKTN:611615>AR|253800>AR|613152>AR|611588>AR	FKTN:607440	9q31.2	ENSG00000106692	AD-1.0-141202	FKTN:ENST00000223528>NM_006731/XM_005251803/XM_005251804/XM_005251805/XM_005251806|ENST00000357998|ENST00000374705|ENST00000448551>NM_001198963|ENST00000457847|ENST00000479846|ENST00000490134|ENST00000540160|ENST00000602526|ENST00000602661>NM_001079802	FKTN:fukutin
7	16130817	16460947	ISPD	ISPD:614643>AR|616052>AR	ISPD:614631	7p21.2	ENSG00000214960	AD-1.0-141202	ISPD:ENST00000399310>NM_001101417|ENST00000407010>NM_001101426|ENST00000479493	ISPD:isoprenoid_synthase_domain_containing
9	134378289	134399193	POMT1	POMT1:236670>AR|613155>AR|609308>AR	POMT1:607423	9q34.13	ENSG00000130714	AD-1.0-141202	POMT1:ENST00000341012>NM_001077366/XM_005272157/XM_005272161|ENST00000354713|ENST00000372220|ENST00000372228>NM_007171/XM_005272156/XM_005272158/XM_005272159|ENST00000402686>NM_001077365/XM_005272161|ENST00000404875>NM_001136114/XM_005272161|ENST00000415075|ENST00000418774|ENST00000419118|ENST00000423007>NM_001136113/XM_005272161|ENST00000430619|ENST00000441334|ENST00000448212|ENST00000462375|ENST00000467848|ENST00000483472|ENST00000485278|ENST00000494883|ENST00000541219>XM_005272160	POMT1:protein-O-mannosyltransferase_1
14	77741299	77787227	POMT2	POMT2:613150>AR|613156>AR|613158>AR	POMT2:607439	14q24.3	ENSG00000009830	AD-1.0-141202	POMT2:ENST00000261534>NM_013382|ENST00000452340|ENST00000553863|ENST00000553880|ENST00000554564|ENST00000554767|ENST00000554884|ENST00000554948|ENST00000555134|ENST00000555675|ENST00000555710|ENST00000555788|ENST00000556171|ENST00000556326|ENST00000556394|ENST00000556404|ENST00000556446|ENST00000556851|ENST00000556880|ENST00000557289|ENST00000557525|ENST00000557675|ENST00000602717	POMT2:protein-O-mannosyltransferase_2
1	46654354	46685977	POMGNT1	POMGNT1:253280>AR|613151>AR|613157>AR	POMGNT1:606822	1p34.1	ENSG00000085998	AD-1.0-141202	POMGNT1:ENST00000371984>NM_017739/XM_005271011|ENST00000371986|ENST00000371992>NM_001243766|ENST00000396420|ENST00000463030|ENST00000475642|ENST00000477114|ENST00000480972|ENST00000485714|ENST00000489985|ENST00000497439|ENST00000535522>XM_005271012	POMGNT1:protein_O-linked_mannose_N-acetylglucosaminyltransferase_1_(beta_1_2-)
22	33558212	34318829	LARGE	LARGE:613154>AR|608840>AR	LARGE:603590	22q12.3	ENSG00000133424	AD-1.0-141202	LARGE:ENST00000337431|ENST00000354992>NM_004737/XM_005261831|ENST00000397394>NM_133642/XM_005261835|ENST00000402320>XM_005261833|ENST00000413114|ENST00000421232|ENST00000421768|ENST00000423375|ENST00000430220|ENST00000432776|ENST00000434071|ENST00000437602|ENST00000452586|ENST00000462606|ENST00000476315|ENST00000494763|ENST00000608642|ENST00000609799|ENST00000610186	LARGE:like-glycosyltransferase
3	43120724	43147568	POMGNT2	POMGNT2:614830>AR	POMGNT2:614828	3p22.1	ENSG00000144647	AD-1.0-141202	POMGNT2:ENST00000344697>NM_032806|ENST00000441964>XM_005265515	POMGNT2:protein_O-linked_mannose_N-acetylglucosaminyltransferase_2_(beta_1_4-)
3	49506146	49573048	DAG1	DAG1:613818>AR	DAG1:128239	3p21.31	ENSG00000173402	AD-1.0-141202	DAG1:ENST00000308775>NM_001177639/NM_004393|ENST00000418588|ENST00000419218|ENST00000421560|ENST00000428779|ENST00000430636|ENST00000431960|ENST00000435508|ENST00000452060|ENST00000452317|ENST00000461492|ENST00000461987|ENST00000466701|ENST00000469139|ENST00000475424|ENST00000479935|ENST00000496474|ENST00000515359>NM_001177636/NM_001177637/NM_001177643|ENST00000538711>NM_001177635/NM_001177640/NM_001177642|ENST00000539901>NM_001177644|ENST00000541308>NM_001165928/NM_001177638/NM_001177641|ENST00000545947>NM_001177634	DAG1:dystroglycan_1_(dystrophin-associated_glycoprotein_1)
12	64173583	64203338	TMEM5	TMEM5:615041>AR	TMEM5:605862	12q14.2	ENSG00000118600	AD-1.0-141202	TMEM5:ENST00000261234>NM_014254|ENST00000433461|ENST00000535963|ENST00000536219|ENST00000537373>NM_001278237|ENST00000537982|ENST00000543342>XM_005268562	TMEM5:transmembrane_protein_5
1	235613238	235667781	B3GALNT2	B3GALNT2:615181>AR	B3GALNT2:610194	1q42.3	ENSG00000162885	AD-1.0-141202	B3GALNT2:ENST00000313984>NM_001277155|ENST00000366600>NM_152490|ENST00000461994|ENST00000462374|ENST00000477694|ENST00000478199|ENST00000494378	B3GALNT2:beta-1_3-N-acetylgalactosaminyltransferase_2
11	66112843	66115163	B3GNT1	ENSG00000174684	AD-1.0-141202	B3GNT1:ENST00000311181>NM_006876	B3GNT1:UDP-GlcNAc_betaGal_beta-1_3-N-acetylglucosaminyltransferase_1
3	49754277	49761384	GMPPB	GMPPB:615350>AR|615351>AR|615352>AR	GMPPB:615320	3p21.31	ENSG00000173540	AD-1.0-141202	GMPPB:ENST00000308375|ENST00000308388>NM_013334/NM_021971|ENST00000480687>XM_005265096|ENST00000481959|ENST00000495627	GMPPB:GDP-mannose_pyrophosphorylase_B
8	42948658	42978577	POMK	POMK:616094>AR|615249>AR	POMK:615247	8p11.21	ENSG00000185900	AD-1.0-141202	POMK:ENST00000331373>NM_001277971/NM_032237|ENST00000518991	POMK:protein-O-mannose_kinase
20	49551404	49575092	DPM1	DPM1:608799>AR	DPM1:603503	20q13.13	ENSG00000000419	AD-1.0-141202	DPM1:ENST00000371582>XM_005260600|ENST00000371583|ENST00000371584|ENST00000371588>NM_003859|ENST00000413082|ENST00000466152|ENST00000494752	DPM1:dolichyl-phosphate_mannosyltransferase_polypeptide_1__catalytic_subunit
9	130697378	130700763	DPM2	DPM2:615042>AR	DPM2:603564	9q34.11	ENSG00000136908	AD-1.0-141202	DPM2:ENST00000314392>NM_003863|ENST00000373110|ENST00000470181|ENST00000473360|ENST00000495270	DPM2:dolichyl-phosphate_mannosyltransferase_polypeptide_2__regulatory_subunit
1	155112367	155113071	DPM3	DPM3:612937	DPM3:605951	1q22	ENSG00000179085	AD-1.0-141202	DPM3:ENST00000341298|ENST00000368399>NM_018973|ENST00000368400>NM_153741	DPM3:dolichyl-phosphate_mannosyltransferase_polypeptide_3
9	131707809	131709898	DOLK	DOLK:610768>AR	DOLK:610746	9q34.11	ENSG00000175283	AD-1.0-141202	DOLK:ENST00000372586>NM_014908	DOLK:dolichol_kinase
