|
DOID:13481
|
thanatophoric dysplasia
|
HGNC:3690
|
Homo sapiens (human)
|
2261
|
FGFR3
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
|
DOID:8991
|
cervix uteri carcinoma in situ
|
HGNC:4948
|
Homo sapiens (human)
|
3123
|
HLA-DRB1
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:10073700
- PMID:15458897
- PMID:18351579
|
|
DOID:10762
|
portal hypertension
|
RGD:3876
|
Rattus norvegicus (Norway rat)
|
24835
|
Tnf
|
|
mutant phenotype evidence used in manual assertion
|
- PMID:10070045
- PMID:7875478
- PMID:9537427
|
|
DOID:0070195
|
X-linked chronic granulomatous disease
|
HGNC:2578
|
Homo sapiens (human)
|
1536
|
CYBB
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:10068684
- PMID:7694872
- RGD:7240710
|
|
DOID:1064
|
cystinosis
|
HGNC:2518
|
Homo sapiens (human)
|
1497
|
CTNS
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:10068513
- PMID:11565547
- PMID:9537412
- PMID:9792862
- RGD:7240710
|
|
DOID:5212
|
congenital disorder of glycosylation
|
HGNC:9115
|
Homo sapiens (human)
|
5373
|
PMM2
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:10066032
- PMID:11058896
|
|
DOID:12308
|
Dubin-Johnson syndrome
|
HGNC:53
|
Homo sapiens (human)
|
1244
|
ABCC2
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:10053008
- PMID:9425227
- RGD:7240710
|
|
DOID:2841
|
asthma
|
HGNC:4948
|
Homo sapiens (human)
|
3123
|
HLA-DRB1
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:10051703
- PMID:19439981
- PMID:19528258
- PMID:20159242
- PMID:20214848
- PMID:20486920
|
|
DOID:2841
|
asthma
|
HGNC:4942
|
Homo sapiens (human)
|
3117
|
HLA-DQA1
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:10051703
- PMID:11802952
- PMID:12890388
- PMID:19052351
|
|
DOID:13994
|
cleidocranial dysplasia
|
MGI:99829
|
Mus musculus (house mouse)
|
12393
|
Runx2
|
|
author statement supported by traceable reference
|
- PMID:10049712
- PMID:10204840
- PMID:10213384
- PMID:19028669
- PMID:9182763
- PMID:9182764
|
|
DOID:10652
|
Alzheimer's disease
|
HGNC:613
|
Homo sapiens (human)
|
348
|
APOE
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:10027549
- PMID:20574532
|
|
DOID:2870
|
endometrial adenocarcinoma
|
HGNC:15971
|
Homo sapiens (human)
|
7251
|
TSG101
|
|
direct assay evidence used in manual assertion
|
|
|
DOID:10763
|
hypertension
|
HGNC:2592
|
Homo sapiens (human)
|
1585
|
CYP11B2
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
|
DOID:11198
|
DiGeorge syndrome
|
HGNC:12520
|
Homo sapiens (human)
|
7353
|
UFD1
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
|
DOID:9352
|
type 2 diabetes mellitus
|
HGNC:10446
|
Homo sapiens (human)
|
6236
|
RRAD
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:10024077
- PMID:15161552
|
|
DOID:2671
|
transitional cell carcinoma
|
HGNC:1681
|
Homo sapiens (human)
|
960
|
CD44
|
|
direct assay evidence used in manual assertion
|
|
|
DOID:0090140
|
cortisone reductase deficiency 2
|
MGI:103562
|
Mus musculus (house mouse)
|
15483
|
Hsd11b1
|
|
author statement supported by traceable reference
|
- MGI:85353
- PMID:11546766
- PMID:9405715
|
|
DOID:4480
|
achondroplasia
|
MGI:99602
|
Mus musculus (house mouse)
|
11595
|
Acan
|
|
author statement supported by traceable reference
|
|
|
DOID:6688
|
autoimmune lymphoproliferative syndrome
|
MGI:99255
|
Mus musculus (house mouse)
|
14103
|
Fasl
|
|
author statement supported by traceable reference
|
|
|
DOID:6688
|
autoimmune lymphoproliferative syndrome
|
MGI:95484
|
Mus musculus (house mouse)
|
14102
|
Fas
|
|
author statement supported by traceable reference
|
- MGI:76424
- PMID:2302830
- PMID:2406366
- PMID:8700897
|
|
DOID:9074
|
systemic lupus erythematosus
|
MGI:95484
|
Mus musculus (house mouse)
|
14102
|
Fas
|
|
author statement supported by traceable reference
|
- MGI:76424
- PMID:12486097
- PMID:309911
- PMID:762500
|
|
DOID:0110867
|
congenital stationary night blindness 1C
|
MGI:1330305
|
Mus musculus (house mouse)
|
17364
|
Trpm1
|
|
author statement supported by traceable reference
|
|
|
DOID:11105
|
fundus albipunctatus
|
MGI:2385957
|
Mus musculus (house mouse)
|
259172
|
Mfrp
|
|
author statement supported by traceable reference
|
- MGI:7611661
- PMID:10967077
|
|
DOID:0080599
|
Coronavirus infectious disease
|
MGI:2153525
|
Mus musculus (house mouse)
|
140474
|
Muc4
|
|
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
|