DOID:0112374
|
muscular dystrophy-dystroglycanopathy
|
FB:FBgn0003292
|
Drosophila melanogaster (fruit fly)
|
39297
|
rt
|
CG6097
|
combinatorial experimental and author inference evidence used in manual assertion
|
|
DOID:0112374
|
muscular dystrophy-dystroglycanopathy
|
FB:FBgn0034072
|
Drosophila melanogaster (fruit fly)
|
36773
|
Dg
|
CG18250
|
combinatorial experimental and author inference evidence used in manual assertion
|
|
DOID:0112374
|
muscular dystrophy-dystroglycanopathy
|
HGNC:22932
|
Homo sapiens (human)
|
29925
|
GMPPB
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
DOID:0112374
|
muscular dystrophy-dystroglycanopathy
|
FB:FBgn0086368
|
Drosophila melanogaster (fruit fly)
|
31024
|
tw
|
CG12311
|
combinatorial experimental and author inference evidence used in manual assertion
|
|
DOID:0050588
|
muscular dystrophy-dystroglycanopathy type B1
|
HGNC:9202
|
Homo sapiens (human)
|
10585
|
POMT1
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
DOID:0050588
|
muscular dystrophy-dystroglycanopathy type B1
|
MGI:2138994
|
Mus musculus (house mouse)
|
99011
|
Pomt1
|
|
author statement supported by traceable reference
|
|
DOID:0050588
|
muscular dystrophy-dystroglycanopathy type B1
|
MGI:1919680
|
Mus musculus (house mouse)
|
108902
|
B4gat1
|
|
author statement supported by traceable reference
|
|
DOID:0050588
|
muscular dystrophy-dystroglycanopathy type B1
|
MGI:1915523
|
Mus musculus (house mouse)
|
68273
|
Pomgnt1
|
|
author statement supported by traceable reference
|
|
DOID:0050588
|
muscular dystrophy-dystroglycanopathy type B1
|
ZFIN:ZDB-GENE-070412-4
|
Danio rerio (zebrafish)
|
571426
|
fkrp
|
|
author statement supported by traceable reference used in manual assertion
|
|
DOID:0050588
|
muscular dystrophy-dystroglycanopathy type B1
|
MGI:2447586
|
Mus musculus (house mouse)
|
243853
|
Fkrp
|
|
author statement supported by traceable reference
|
- PMID:20675713
- PMID:26306834
|
DOID:0050588
|
muscular dystrophy-dystroglycanopathy type B1
|
MGI:1342270
|
Mus musculus (house mouse)
|
16795
|
Large1
|
|
author statement supported by traceable reference
|
- PMID:16111892
- PMID:34142127
|
DOID:0050588
|
muscular dystrophy-dystroglycanopathy type B1
|
MGI:2179507
|
Mus musculus (house mouse)
|
246179
|
Fktn
|
|
author statement supported by traceable reference
|
|
DOID:0112377
|
muscular dystrophy-dystroglycanopathy type B14
|
HGNC:22932
|
Homo sapiens (human)
|
29925
|
GMPPB
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
DOID:0112376
|
muscular dystrophy-dystroglycanopathy type B15
|
HGNC:3007
|
Homo sapiens (human)
|
54344
|
DPM3
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
DOID:0112380
|
muscular dystrophy-dystroglycanopathy type B2
|
HGNC:19743
|
Homo sapiens (human)
|
29954
|
POMT2
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
DOID:0112378
|
muscular dystrophy-dystroglycanopathy type B3
|
HGNC:19139
|
Homo sapiens (human)
|
55624
|
POMGNT1
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
DOID:0112379
|
muscular dystrophy-dystroglycanopathy type B4
|
HGNC:3622
|
Homo sapiens (human)
|
2218
|
FKTN
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
DOID:0110635
|
muscular dystrophy-dystroglycanopathy type B5
|
MGI:2447586
|
Mus musculus (house mouse)
|
243853
|
Fkrp
|
|
author statement supported by traceable reference
|
|
DOID:0110635
|
muscular dystrophy-dystroglycanopathy type B5
|
HGNC:17997
|
Homo sapiens (human)
|
79147
|
FKRP
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:14652796
- RGD:7240710
|
DOID:0110637
|
muscular dystrophy-dystroglycanopathy type B6
|
HGNC:6511
|
Homo sapiens (human)
|
9215
|
LARGE1
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:12966029
- RGD:7240710
|
DOID:0110637
|
muscular dystrophy-dystroglycanopathy type B6
|
MGI:1342270
|
Mus musculus (house mouse)
|
16795
|
Large1
|
|
author statement supported by traceable reference
|
|
DOID:0112381
|
muscular dystrophy-dystroglycanopathy type C12
|
HGNC:26267
|
Homo sapiens (human)
|
84197
|
POMK
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
DOID:0112382
|
muscular dystrophy-dystroglycanopathy type C8
|
HGNC:25902
|
Homo sapiens (human)
|
84892
|
POMGNT2
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
DOID:4189
|
mutism
|
HGNC:13830
|
Homo sapiens (human)
|
26047
|
CNTNAP2
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
DOID:437
|
myasthenia gravis
|
HGNC:4944
|
Homo sapiens (human)
|
3119
|
HLA-DQB1
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:10593018
- PMID:19561379
|