PLIN1, perilipin 1, 5346

N. diseases: 85; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151268
Disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4 		0.600 CausalMutation disease CLINVAR
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.370 Biomarker disease CTD_human
CUI: C1720859
Disease: Familial Partial Lipodystrophy, Type 1
Familial Partial Lipodystrophy, Type 1 		0.300 Biomarker disease CTD_human
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.300 Biomarker disease CTD_human
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
Familial Partial Lipodystrophy, Type 3 		0.300 Biomarker disease CTD_human
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.140 Biomarker disease HPO
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.130 Biomarker disease HPO
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.130 Biomarker disease HPO
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.120 Biomarker group HPO
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.120 Biomarker disease HPO
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.110 Biomarker group HPO
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.110 Biomarker disease HPO
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		0.100 Biomarker disease HPO
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.100 Biomarker phenotype HPO
CUI: C0021359
Disease: Infertility
Infertility 		0.100 Biomarker phenotype HPO
CUI: C0028949
Disease: Oligomenorrhea
Oligomenorrhea 		0.100 Biomarker phenotype HPO
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.100 Biomarker disease HPO
CUI: C1280433
Disease: Lipoatrophy
Lipoatrophy 		0.100 Biomarker disease HPO
CUI: C1837764
Disease: Loss of subcutaneous adipose tissue in limbs
Loss of subcutaneous adipose tissue in limbs 		0.100 Biomarker phenotype HPO
CUI: C1837792
Disease: Insulin-resistant diabetes mellitus at puberty
Insulin-resistant diabetes mellitus at puberty 		0.100 Biomarker phenotype HPO
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		0.100 Biomarker phenotype HPO
CUI: C1857657
Disease: Reduced subcutaneous adipose tissue
Reduced subcutaneous adipose tissue 		0.100 Biomarker phenotype HPO
CUI: C2265792
Disease: Skeletal muscle hypertrophy
Skeletal muscle hypertrophy 		0.100 Biomarker phenotype HPO
CUI: C4024606
Disease: Loss of gluteal subcutaneous adipose tissue
Loss of gluteal subcutaneous adipose tissue 		0.100 Biomarker phenotype HPO
CUI: C0028754
Disease: Obesity
Obesity 		0.400 Biomarker disease BEFREE Obesity-associated inflammation triggers an autophagy-lysosomal response in adipocytes and causes degradation of perilipin 1. 30741926 2019