|
DOID:0050545
|
visceral heterotaxy
|
HGNC:18292
|
Homo sapiens (human)
|
55997
|
CFC1
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
|
DOID:0050545
|
visceral heterotaxy
|
MGI:2685906
|
Mus musculus (house mouse)
|
381738
|
Drc1
|
|
author statement supported by traceable reference
|
|
|
DOID:0050545
|
visceral heterotaxy
|
MGI:1315205
|
Mus musculus (house mouse)
|
20563
|
Slit2
|
|
author statement supported by traceable reference
|
|
|
DOID:0050545
|
visceral heterotaxy
|
MGI:106676
|
Mus musculus (house mouse)
|
22773
|
Zic3
|
|
author statement supported by traceable reference
|
- MGI:63130
- PMID:1018005
- PMID:10861288
- PMID:10942421
- PMID:11959836
- PMID:16589192
|
|
DOID:0050545
|
visceral heterotaxy
|
HGNC:14357
|
Homo sapiens (human)
|
118856
|
MMP21
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
|
DOID:0050545
|
visceral heterotaxy
|
MGI:2384917
|
Mus musculus (house mouse)
|
216274
|
Cep290
|
|
author statement supported by traceable reference
|
|
|
DOID:0050545
|
visceral heterotaxy
|
MGI:2446294
|
Mus musculus (house mouse)
|
269878
|
Megf8
|
|
author statement supported by traceable reference
|
- MGI:5284969
- PMID:18043505
|
|
DOID:0050545
|
visceral heterotaxy
|
HGNC:26530
|
Homo sapiens (human)
|
220136
|
CFAP53
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
|
DOID:0050546
|
congenital adrenal insufficiency
|
HGNC:2590
|
Homo sapiens (human)
|
1583
|
CYP11A1
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
|
DOID:0050547
|
familial medullary thyroid carcinoma
|
MGI:97763
|
Mus musculus (house mouse)
|
19116
|
Prlr
|
|
author statement supported by traceable reference
|
|
|
DOID:0050547
|
familial medullary thyroid carcinoma
|
HGNC:9967
|
Homo sapiens (human)
|
5979
|
RET
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
|
DOID:0050548
|
hereditary sensory neuropathy
|
HGNC:8031
|
Homo sapiens (human)
|
4914
|
NTRK1
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:18077166
- PMID:18322713
- PMID:19250380
- PMID:19651702
- PMID:20647579
|
|
DOID:0050548
|
hereditary sensory neuropathy
|
MGI:104627
|
Mus musculus (house mouse)
|
13518
|
Dst
|
|
author statement supported by traceable reference
|
|
|
DOID:0050548
|
hereditary sensory neuropathy
|
HGNC:2976
|
Homo sapiens (human)
|
1786
|
DNMT1
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
|
DOID:0050548
|
hereditary sensory neuropathy
|
MGI:97383
|
Mus musculus (house mouse)
|
18211
|
Ntrk1
|
|
author statement supported by traceable reference
|
- PMID:10681461
- PMID:8145823
|
|
DOID:0050548
|
hereditary sensory neuropathy
|
HGNC:14540
|
Homo sapiens (human)
|
65125
|
WNK1
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
|
DOID:0050548
|
hereditary sensory neuropathy
|
MGI:1345149
|
Mus musculus (house mouse)
|
24046
|
Scn11a
|
|
author statement supported by traceable reference
|
|
|
DOID:0050554
|
X-linked sideroblastic anemia with ataxia
|
HGNC:48
|
Homo sapiens (human)
|
22
|
ABCB7
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:10196363
- PMID:11050011
- PMID:11843825
- RGD:7240710
|
|
DOID:0050557
|
congenital muscular dystrophy
|
MGI:88461
|
Mus musculus (house mouse)
|
12835
|
Col6a3
|
|
author statement supported by traceable reference
|
|
|
DOID:0050558
|
Ullrich congenital muscular dystrophy
|
MGI:88461
|
Mus musculus (house mouse)
|
12835
|
Col6a3
|
|
author statement supported by traceable reference
|
|
|
DOID:0050558
|
Ullrich congenital muscular dystrophy
|
MGI:88459
|
Mus musculus (house mouse)
|
12833
|
Col6a1
|
|
author statement supported by traceable reference
|
|
|
DOID:0050559
|
Fukuyama congenital muscular dystrophy
|
MGI:2179507
|
Mus musculus (house mouse)
|
246179
|
Fktn
|
|
author statement supported by traceable reference
|
- PMID:15837576
- PMID:22922256
|
|
DOID:0050559
|
Fukuyama congenital muscular dystrophy
|
HGNC:3622
|
Homo sapiens (human)
|
2218
|
FKTN
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
|
DOID:0050560
|
Walker-Warburg syndrome
|
ZFIN:ZDB-GENE-121001-5
|
Danio rerio (zebrafish)
|
101669768
|
b4gat1
|
|
author statement supported by traceable reference used in manual assertion
|
|
|
DOID:0050560
|
Walker-Warburg syndrome
|
SGD:S000003904
|
Saccharomyces cerevisiae S288C
|
853608
|
PMT4
|
|
mutant phenotype evidence used in manual assertion
|
|