|
DOID:12554
|
hemolytic-uremic syndrome
|
HGNC:9040
|
Homo sapiens (human)
|
7941
|
PLA2G7
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
|
DOID:9952
|
acute lymphoblastic leukemia
|
MGI:99460
|
Mus musculus (house mouse)
|
18131
|
Notch3
|
|
author statement supported by traceable reference
|
|
|
DOID:305
|
carcinoma
|
FB:FBgn0263289
|
Drosophila melanogaster (fruit fly)
|
44448
|
scrib
|
|
combinatorial experimental and author inference evidence used in manual assertion
|
- PMID:10884224
- PMID:14592975
- PMID:16150723
- PMID:19289090
- PMID:26302329
- PMID:29360576
- PMID:29804808
- PMID:30683884
- PMID:30770795
- PMID:31358113
- PMID:33919765
- PMID:34017079
- PMID:34349099
- PMID:35050535
- PMID:35420935
- PMID:35732124
- PMID:35933447
- PMID:37035004
- PMID:37924514
|
|
DOID:6612
|
leukocyte adhesion deficiency
|
HGNC:6155
|
Homo sapiens (human)
|
3689
|
ITGB2
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:10886250
- PMID:14512306
- PMID:1968911
- PMID:20549317
- PMID:21103413
|
|
DOID:552
|
pneumonia
|
RGD:2232
|
Rattus norvegicus (Norway rat)
|
24232
|
C3
|
|
direct assay evidence used in manual assertion
|
|
|
DOID:3310
|
atopic dermatitis
|
HGNC:5973
|
Homo sapiens (human)
|
3596
|
IL13
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:10887320
- PMID:21913997
- PMID:23317483
|
|
DOID:11829
|
degenerative myopia
|
HGNC:4944
|
Homo sapiens (human)
|
3119
|
HLA-DQB1
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:10887689
- PMID:11864433
|
|
DOID:2908
|
Treacher Collins syndrome
|
MGI:892003
|
Mus musculus (house mouse)
|
21453
|
Tcof1
|
|
author statement supported by traceable reference
|
- PMID:10888597
- PMID:16938878
|
|
DOID:1168
|
familial hyperlipidemia
|
RGD:620396
|
Rattus norvegicus (Norway rat)
|
83504
|
Kl
|
|
direct assay evidence used in manual assertion
|
|
|
DOID:10763
|
hypertension
|
RGD:620396
|
Rattus norvegicus (Norway rat)
|
83504
|
Kl
|
|
direct assay evidence used in manual assertion
|
|
|
DOID:1074
|
kidney failure
|
RGD:620396
|
Rattus norvegicus (Norway rat)
|
83504
|
Kl
|
|
direct assay evidence used in manual assertion
|
|
|
DOID:4450
|
renal cell carcinoma
|
HGNC:4948
|
Homo sapiens (human)
|
3123
|
HLA-DRB1
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:10895068
- PMID:12771724
- PMID:9044854
|
|
DOID:9970
|
obesity
|
RGD:3001
|
Rattus norvegicus (Norway rat)
|
24536
|
Lepr
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:10901178
- PMID:11500530
- PMID:20159938
- PMID:28746409
- PMID:32710530
- PMID:33568522
- PMID:8702432
- PMID:8841178
- PMID:9843879
|
|
DOID:3390
|
palmoplantar keratosis
|
HGNC:6207
|
Homo sapiens (human)
|
3728
|
JUP
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
|
DOID:0050700
|
cardiomyopathy
|
HGNC:6207
|
Homo sapiens (human)
|
3728
|
JUP
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
|
DOID:10763
|
hypertension
|
HGNC:1030
|
Homo sapiens (human)
|
624
|
BDKRB2
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
|
DOID:0081082
|
acute myelomonocytic leukemia
|
HGNC:17073
|
Homo sapiens (human)
|
23092
|
ARHGAP26
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
|
DOID:9351
|
diabetes mellitus
|
RGD:628678
|
Rattus norvegicus (Norway rat)
|
260320
|
F7
|
|
direct assay evidence used in manual assertion
|
|
|
DOID:9351
|
diabetes mellitus
|
RGD:3249
|
Rattus norvegicus (Norway rat)
|
24617
|
Serpine1
|
|
direct assay evidence used in manual assertion
|
|
|
DOID:2452
|
thrombophilia
|
HGNC:3661
|
Homo sapiens (human)
|
2243
|
FGA
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
|
DOID:0111095
|
Fanconi anemia complementation group A
|
MGI:1341823
|
Mus musculus (house mouse)
|
14087
|
Fanca
|
|
author statement supported by traceable reference
|
- PMID:10915769
- PMID:12913077
|
|
DOID:2986
|
IgA glomerulonephritis
|
HGNC:6000
|
Homo sapiens (human)
|
3557
|
IL1RN
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:10916103
- PMID:19280228
|
|
DOID:10763
|
hypertension
|
RGD:68407
|
Rattus norvegicus (Norway rat)
|
29216
|
Lrp2
|
|
direct assay evidence used in manual assertion
|
|
|
DOID:9409
|
diabetes insipidus
|
RGD:2184
|
Rattus norvegicus (Norway rat)
|
24221
|
Avp
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:10919858
- PMID:13995944
- PMID:5692127
- PMID:6717565
|
|
DOID:9409
|
diabetes insipidus
|
RGD:2142
|
Rattus norvegicus (Norway rat)
|
25386
|
Aqp2
|
|
inference by association of genotype from phenotype used in manual assertion
|
|