|
DOID:9620
|
vesicoureteral reflux
|
MGI:98914
|
Mus musculus (house mouse)
|
22270
|
Upk3a
|
|
author statement supported by traceable reference
|
|
|
DOID:10595
|
Charcot-Marie-Tooth disease
|
HGNC:7225
|
Homo sapiens (human)
|
4359
|
MPZ
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:11080237
- RGD:7240710
|
|
DOID:9352
|
type 2 diabetes mellitus
|
MGI:109334
|
Mus musculus (house mouse)
|
384783
|
Irs2
|
|
author statement supported by traceable reference
|
- PMID:11078455
- PMID:15467829
- PMID:9495343
|
|
DOID:10763
|
hypertension
|
HGNC:3176
|
Homo sapiens (human)
|
1906
|
EDN1
|
|
mutant phenotype evidence used in manual assertion
|
|
|
DOID:0050431
|
arrhythmogenic right ventricular cardiomyopathy
|
HGNC:164
|
Homo sapiens (human)
|
88
|
ACTN2
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
|
DOID:14067
|
Plasmodium falciparum malaria
|
HGNC:4944
|
Homo sapiens (human)
|
3119
|
HLA-DQB1
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
|
DOID:9074
|
systemic lupus erythematosus
|
MGI:88228
|
Mus musculus (house mouse)
|
12268
|
C4b
|
|
author statement supported by traceable reference
|
|
|
DOID:12930
|
dilated cardiomyopathy
|
HGNC:3052
|
Homo sapiens (human)
|
1832
|
DSP
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
|
DOID:12716
|
newborn respiratory distress syndrome
|
HGNC:10798
|
Homo sapiens (human)
|
653509
|
SFTPA1
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
|
DOID:12716
|
newborn respiratory distress syndrome
|
HGNC:10801
|
Homo sapiens (human)
|
6439
|
SFTPB
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:11063734
- PMID:12424586
- PMID:7832777
|
|
DOID:14179
|
X-linked agammaglobulinemia
|
MGI:97583
|
Mus musculus (house mouse)
|
18708
|
Pik3r1
|
|
author statement supported by traceable reference
|
- PMID:11062485
- PMID:9888854
- PMID:9888855
|
|
DOID:0050545
|
visceral heterotaxy
|
HGNC:33983
|
Homo sapiens (human)
|
653275
|
CFC1B
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:11062482
- PMID:25423076
|
|
DOID:0050948
|
autosomal dominant hypophosphatemic rickets
|
HGNC:3680
|
Homo sapiens (human)
|
8074
|
FGF23
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:11062477
- PMID:19655082
- RGD:7240710
|
|
DOID:8499
|
night blindness
|
HGNC:8082
|
Homo sapiens (human)
|
60506
|
NYX
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:11062471
- RGD:7240710
|
|
DOID:0050773
|
paraganglioma
|
HGNC:10682
|
Homo sapiens (human)
|
6391
|
SDHC
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:11062460
- RGD:7240710
|
|
DOID:2841
|
asthma
|
HGNC:7512
|
Homo sapiens (human)
|
4583
|
MUC2
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
|
DOID:14323
|
Marfan syndrome
|
HGNC:3603
|
Homo sapiens (human)
|
2200
|
FBN1
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:11059536
- PMID:11453977
- PMID:11702223
- PMID:15221638
- PMID:16220557
- PMID:16222657
- PMID:16617303
- PMID:16971892
- PMID:17718856
- PMID:17984934
- PMID:18435798
- PMID:19328768
- PMID:20886638
- PMID:21907952
- PMID:21976953
- PMID:22772377
- PMID:22876116
- PMID:23592911
- PMID:25613431
- PMID:25729264
- PMID:26787436
- PMID:8863159
- PMID:8882780
- PMID:8894692
- PMID:9236141
- RGD:7240710
|
|
DOID:0110313
|
hypertrophic cardiomyopathy 7
|
MGI:98783
|
Mus musculus (house mouse)
|
21954
|
Tnni3
|
|
author statement supported by traceable reference
|
- PMID:11055985
- PMID:18096573
|
|
DOID:9252
|
amino acid metabolic disorder
|
HGNC:8923
|
Homo sapiens (human)
|
26227
|
PHGDH
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
|
DOID:11206
|
opioid abuse
|
HGNC:3025
|
Homo sapiens (human)
|
1815
|
DRD4
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
|
DOID:2861
|
congenital nonspherocytic hemolytic anemia
|
HGNC:9020
|
Homo sapiens (human)
|
5313
|
PKLR
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:11054094
- PMID:1536957
- PMID:7949104
- PMID:8161798
|
|
DOID:14018
|
alcoholic liver cirrhosis
|
HGNC:404
|
Homo sapiens (human)
|
217
|
ALDH2
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:11051375
- PMID:23550892
- PMID:29779728
|
|
DOID:12930
|
dilated cardiomyopathy
|
HGNC:4886
|
Homo sapiens (human)
|
3077
|
HFE
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
|
DOID:0050127
|
sinusitis
|
HGNC:6709
|
Homo sapiens (human)
|
4049
|
LTA
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
|
DOID:10763
|
hypertension
|
RGD:61276
|
Rattus norvegicus (Norway rat)
|
58959
|
Crhr1
|
|
direct assay evidence used in manual assertion
|
|