Refine search

Search Disease/ Diagnostics

show results
Refine your search

Search term:

Results 1 - 10 of 277 > >>
EC Number
Disease
PubMed ID
Title of Publication
Category
Confidence Level
Acanthosis Nigricans
Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.
causal interaction
4
Acanthosis Nigricans
Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.
diagnostic usage
4
Acanthosis Nigricans
Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.
unassigned
0
Acro-Osteolysis
A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features.
causal interaction
3
Acro-Osteolysis
A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism.
causal interaction
2
Acro-Osteolysis
Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.
causal interaction
4
Acro-Osteolysis
A novel homozygous LMNA mutation (p.Met540Ile) causes mandibuloacral dysplasia type A.
causal interaction
1
Acro-Osteolysis
Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.
diagnostic usage
4
Acro-Osteolysis
A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism.
therapeutic application
1
Acro-Osteolysis
A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features.
unassigned
0
Results 1 - 10 of 277 > >>