ZMPSTE24, zinc metallopeptidase STE24, 10269

N. diseases: 265; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
0.710 Biomarker disease CTD_human
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
0.710 CausalMutation disease CLINVAR
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
0.710 Biomarker disease GENOMICS_ENGLAND
Lethal tight skin contracture syndrome (disorder)
0.700 Biomarker disease GENOMICS_ENGLAND
Lethal tight skin contracture syndrome (disorder)
0.700 CausalMutation disease CLINVAR
Lethal tight skin contracture syndrome (disorder)
0.700 Biomarker disease CTD_human
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
0.460 Biomarker disease HPO
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
0.210 Biomarker disease MGD
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss
0.200 Biomarker disease MGD
Familial Partial Lipodystrophy, Type 1
0.200 Biomarker disease MGD
Familial Partial Lipodystrophy, Type 2
0.200 Biomarker disease MGD
Familial Partial Lipodystrophy, Type 3
0.200 Biomarker disease MGD
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
0.130 Biomarker disease HPO
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.120 Biomarker disease HPO
CUI: C0002170
Disease: Alopecia
Alopecia
0.110 Biomarker disease HPO
CUI: C0015695
Disease: Fatty Liver
Fatty Liver
0.110 Biomarker disease HPO
Sensorineural Hearing Loss (disorder)
0.110 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.110 Biomarker disease HPO
CUI: C0151514
Disease: Atrophic condition of skin
Atrophic condition of skin
0.110 Biomarker group HPO
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle
0.110 Biomarker disease HPO
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.110 Biomarker disease HPO
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
0.100 Biomarker disease HPO
CUI: C0002962
Disease: Angina Pectoris
Angina Pectoris
0.100 Biomarker phenotype HPO
CUI: C0003090
Disease: Ankylosis
Ankylosis
0.100 Biomarker phenotype HPO
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
0.100 Biomarker disease HPO