Currently the diseases view is a work in progress and should not be considered a definitive resource yet

Development Level

Tbio 5,490
Tchem 2,543
Tclin 1,769
Tdark 849

Target Family

Non-IDG 4,428
Enzyme 2,888
Transcription Factor 1,375
Kinase 1,028
Transporter 763
Ion Channel 726
GPCR 642
Epigenetic 375
Nuclear Receptor 348
TF/Epigenetic 107
oGPCR 46

Drug

prednisolone 6
canakinumab 2
lidocaine 2
aflibercept 1
asenapine 1
beclometasone dipropionate 1
belinostat 1
chlordiazepoxide 1
cimetidine 1
ciprofloxacin 1
clidinium 1
corticotropin 1
diclofenac 1
dicoumarol 1
edoxaban 1
epinephrine 1
eribulin 1
estrone 1
ethotoin 1
ezetimibe 1
imatinib 1
ivabradine 1
lamotrigine 1
lenvatinib 1
leuprorelin 1
meclozine 1
metoclopramide 1
metreleptin 1
miglustat 1
naproxen 1
paclitaxel 1
piretanide 1
progesterone 1
promazine 1
somatropin 1
spironolactone 1
trimetaphan 1
tyramine 1
verapamil 1
vinblastine 1
vincristine 1
ziconotide 1

Data Source

DisGeNET 6,981
TCRDv4.6.9 15,277
Monarch 5,121
UniProt Disease 4,541
JensenLab Text Mining 3,592
DrugCentral Indication 1,226
DrugCentral 1,012
JensenLab Knowledge GHR 498
JensenLab Experiment DistiLD 206
Expression Atlas 141
JensenLab Knowledge UniProtKB-... 120
JensenLab Experiment COSMIC 63

DisGeNET Source

CTD_human 3,501
CLINVAR 2,796
ORPHANET 1,868
UNIPROT 1,804
GWASCAT 278
ID Name Description
umls:C1720861 Familial Partial Lipodystrophy, Type 3
umls:C1836302 Carotid Intimal Medial Thickness 1
umls:C0267662 Congenital chloride diarrhea
MIM:274700 Thyroid dyshormonogenesis 3 A disorder due to thyroid dyshormonogenesis, causing large goiters of elastic and soft consistency in the majority of patients. Although the degree of thyroid dysfunction varies considerably among patients with defective thyroglobulin synthesis, patients usually have a relatively high serum free triiodothyronine (T3) concentration with disproportionately low free tetraiodothyronine (T4) level. The maintenance of relatively high free T3 levels prevents profound tissue hypothyroidism except in brain and pituitary, which are dependent on T4 supply, resulting in neurologic and intellectual defects in some cases.
umls:C1842444 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3 (finding)
Thyroid Dyshormonogenesis 1
MIM:228980 Fleck retina, familial benign An autosomal recessive condition associated with a distinctive retinal appearance and no apparent visual or electrophysiologic deficits. Affected individuals are asymptomatic, but fundus examination reveals a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but sparing the foveal region.
MIM:615696 Dowling-Degos disease 4 A form of Dowling-Degos disease, a genodermatosis manifesting with postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. DDD4 is characterized by prominent involvement of non-flexural skin areas.
MIM:606176 Diabetes mellitus, permanent neonatal A rare form of diabetes distinct from childhood-onset autoimmune diabetes mellitus type 1. It is characterized by insulin-requiring hyperglycemia that is diagnosed within the first months of life. Permanent neonatal diabetes requires lifelong therapy.
umls:C0271714 Hypoglycemia, leucine-induced