Familial hyperlipidemia type 1

Pathway network for the Familial hyperlipidemia type 1 SuperPath

Sources:

WikiPathways

Pathways in the Familial hyperlipidemia type 1 SuperPath

#	Name	Source	Genes
1	Familial hyperlipidemia type 1	WikiPathways	ANGPTL3 ANGPTL4 ANGPTL8 APOA1 APOA2 APOA4 APOA5 APOC2 CETP GPIHBP1 LCAT LDLR LIPC LMF1 LPL LRP1 PLTP SEL1L (see all 18) (see less)
2	Familial hyperlipidemia type 4	WikiPathways	APOA1 APOA2 APOA4 APOA5 APOC2 CETP DGAT2 FAS GCK GCKR GPIHBP1 LCAT LDLR LIPC LMF1 LPL LRP1 MTTP PDIA2 PLTP SEL1L (see all 21) (see less)
3	Familial hyperlipidemia type 2	WikiPathways	APOA1 APOA2 APOA4 APOB CETP EPHX2 GHR GPIHBP1 LCAT LDLR LDLRAP1 LIPC LPL PCSK9 PLTP USF1 (see all 16) (see less)
4	Familial hyperlipidemia type 5	WikiPathways	APOA1 APOA2 APOA4 APOA5 APOC2 CETP GPIHBP1 LCAT LDLR LIPC LMF1 LPL LRP1 PLTP SEL1L (see all 15) (see less)

Gene overlap in member pathways for Familial hyperlipidemia type 1 SuperPath

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

#	Symbol	Description	Category	# Related Pathways
1	PLTP	Phospholipid Transfer Protein	Protein Coding	4
2	LPL	Lipoprotein Lipase	Protein Coding	4
3	LIPC	Lipase C, Hepatic Type	Protein Coding	4
4	LDLR	Low Density Lipoprotein Receptor	Protein Coding	4
5	LCAT	Lecithin-Cholesterol Acyltransferase	Protein Coding	4
6	GPIHBP1	Glycosylphosphatidylinositol Anchored High Density Lipoprotein Binding Protein 1	Protein Coding	4
7	APOA4	Apolipoprotein A4	Protein Coding	4
8	APOA2	Apolipoprotein A2	Protein Coding	4
9	APOA1	Apolipoprotein A1	Protein Coding	4
10	CETP	Cholesteryl Ester Transfer Protein	Protein Coding	4
11	LMF1	Lipase Maturation Factor 1	Protein Coding	3
12	LRP1	LDL Receptor Related Protein 1	Protein Coding	3
13	APOC2	Apolipoprotein C2	Protein Coding	3
14	APOA5	Apolipoprotein A5	Protein Coding	3
15	SEL1L	SEL1L Adaptor Subunit Of SYVN1 Ubiquitin Ligase	Protein Coding	3
16	ANGPTL4	Angiopoietin Like 4	Protein Coding	1
17	ANGPTL3	Angiopoietin Like 3	Protein Coding	1
18	ANGPTL8	Angiopoietin Like 8	Protein Coding	1
19	GCK	Glucokinase	Protein Coding	1
20	DGAT2	Diacylglycerol O-Acyltransferase 2	Protein Coding	1
21	MTTP	Microsomal Triglyceride Transfer Protein	Protein Coding	1
22	FAS	Fas Cell Surface Death Receptor	Protein Coding	1
23	GCKR	Glucokinase Regulator	Protein Coding	1
24	PDIA2	Protein Disulfide Isomerase Family A Member 2	Protein Coding	1
25	USF1	Upstream Transcription Factor 1	Protein Coding	1
26	APOB	Apolipoprotein B	Protein Coding	1
27	GHR	Growth Hormone Receptor	Protein Coding	1
28	LDLRAP1	Low Density Lipoprotein Receptor Adaptor Protein 1	Protein Coding	1
29	PCSK9	Proprotein Convertase Subtilisin/Kexin Type 9	Protein Coding	1
30	EPHX2	Epoxide Hydrolase 2	Protein Coding	1

Disorders associated with Familial hyperlipidemia type 1 SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Hypercholesterolemia, familial, 1	Enrichment	APOA2, APOB, EPHX2, GHR, LDLR, PCSK9	10.57
2	Familial hypercholesterolemia	Enrichment	APOA2, APOB, EPHX2, GHR, LDLR, LDLRAP1, PCSK9	10.50
3	Hyperlipidemia, familial combined, 3	Enrichment	APOB, LDLR, LPL, USF1	10.45
4	Homozygous familial hypercholesterolemia	Enrichment	APOB, LDLR, LDLRAP1, PCSK9	9.96
5	Lipid metabolism disorder	Enrichment	CETP, LDLR, LIPC	7.66
6	Hyperlipoproteinemia, type i	Enrichment	GPIHBP1, LPL	5.94
7	Lipase deficiency, combined	Enrichment	LMF1, LPL	5.94
8	Familial lipoprotein lipase deficiency	Enrichment	GPIHBP1, LPL	5.94
9	Hypercholesterolemia, familial, 2	Enrichment	APOB, LDLR	5.41
10	Hypercholesterolemia, familial, 4	Enrichment	LDLR, LDLRAP1	5.41
11	Coronary heart disease 5	Enrichment	APOB, LDLR	4.33
12	Atrophoderma vermiculata	Enrichment	LRP1	2.96
13	Hyperlipoproteinemia, type id	Enrichment	GPIHBP1	2.96
14	Keratosis pilaris atrophicans	Enrichment	LRP1	2.96
15	Hepatic lipase deficiency	Enrichment	LIPC	2.96
16	High density lipoprotein cholesterol level quantitative trait locus 12	Enrichment	LIPC	2.96
17	Tubulointerstitial kidney disease, autosomal dominant 6	Enrichment	APOA4	2.96
18	Familial apolipoprotein a5 deficiency	Enrichment	APOA5	2.96
19	Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies	Enrichment	SEL1L	2.96
20	Hyperlipidemia due to hepatic triglyceride lipase deficiency	Enrichment	LIPC	2.96
21	Aapoaii amyloidosis	Enrichment	APOA2	2.96
22	Hyperlipidemia, familial combined, 1	Enrichment	USF1	2.93
23	Laron syndrome	Enrichment	GHR	2.93
24	Growth hormone insensitivity, partial	Enrichment	GHR	2.93
25	Hypercholesterolemia, familial, 3	Enrichment	PCSK9	2.93
26	Plasma triglyceride level quantitative trait locus	Enrichment	ANGPTL4	2.88
27	Abetalipoproteinemia	Enrichment	MTTP	2.81
28	Maturity-onset diabetes of the young, type 2	Enrichment	GCK	2.81
29	Hyperinsulinemic hypoglycemia, familial, 3	Enrichment	GCK	2.81
30	Fasting plasma glucose level quantitative trait locus 5	Enrichment	GCKR	2.81
31	Autosomal dominant charcot-marie-tooth disease type 2 due to dgat2 mutation	Enrichment	DGAT2	2.81
32	Gestational diabetes	Enrichment	GCK	2.81
33	Type 2 diabetes mellitus	Enrichment	GCK, LIPC	2.72
34	Hyperlipoproteinemia, type v	Enrichment	APOA5	2.66
35	Fish-eye disease	Enrichment	LCAT	2.66
36	Apolipoprotein c-ii deficiency	Enrichment	APOC2	2.66
37	Lecithin:cholesterol acyltransferase deficiency	Enrichment	LCAT	2.66
38	Developmental dysplasia of the hip 3	Enrichment	LRP1	2.66
39	Hyperlipoproteinemia, type iii	Enrichment	LDLR	2.66
40	Familial apolipoprotein c-ii deficiency	Enrichment	APOC2	2.66
41	Hypoalphalipoproteinemia, primary, 2, intermediate	Enrichment	APOA1	2.66
42	Amyloidosis, hereditary systemic 3	Enrichment	APOA1	2.66
43	Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia	Enrichment	SEL1L	2.66
44	Growth hormone deficiency, isolated partial	Enrichment	GHR	2.63
45	Hypobetalipoproteinemia, familial, 1	Enrichment	APOB	2.63
46	Hypobetalipoproteinemia	Enrichment	APOB	2.63
47	Hypobetalipoproteinemia, familial, 2	Enrichment	ANGPTL3	2.58
48	Developmental and epileptic encephalopathy 23	Enrichment	ANGPTL3	2.58
49	Maturity-onset diabetes of the young, type 1	Enrichment	GCK	2.51
50	Abdominal obesity-metabolic syndrome 1	Enrichment	MTTP	2.51
51	Diabetes mellitus, permanent neonatal, 1	Enrichment	GCK	2.51
52	Bone marrow failure syndrome 2	Enrichment	GCK	2.51
53	Hyperalphalipoproteinemia 1	Enrichment	CETP	2.48
54	Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia	Enrichment	LDLR	2.48
55	Hypoalphalipoproteinemia, primary, 2	Enrichment	APOA1	2.48
56	Keratosis follicularis spinulosa decalvans	Enrichment	LRP1	2.48
57	Syndromic x-linked intellectual disability najm type	Enrichment	LDLR	2.48
58	Spastic paraplegia 50, autosomal recessive	Enrichment	APOA1	2.48
59	Hypertriglyceridemia 1	Enrichment	APOA5	2.35
60	Hypoalphalipoproteinemia, primary, 1	Enrichment	APOA1	2.35
61	Coronary artery anomaly	Enrichment	LPL	2.35
62	Nijmegen breakage syndrome	Enrichment	GCK	2.33
63	Vogt-koyanagi-harada disease	Enrichment	FAS	2.33
64	Amyloidosis, hereditary systemic 2	Enrichment	APOA1	2.26
65	Autoimmune lymphoproliferative syndrome	Enrichment	FAS	2.21
66	Maturity-onset diabetes of the young, type 3	Enrichment	GCK	2.21
67	Cowden syndrome 1	Enrichment	LDLR	2.18
68	Hyperinsulinemic hypoglycemia, familial, 1	Enrichment	GCK	2.03
69	Nonsyndromic genetic hyperinsulinism	Enrichment	GCK	2.03
70	Permanent neonatal diabetes mellitus	Enrichment	GCK	1.91
71	Specific learning disability	Enrichment	GHR	1.89
72	Diabetes mellitus	Enrichment	GCK	1.77
73	Cardiomyopathy, dilated, 1a	Enrichment	LPL	1.64
74	Behcet syndrome	Enrichment	FAS	1.54
75	Maturity-onset diabetes of the young	Enrichment	GCK	1.52
76	Lung cancer	Enrichment	FAS	1.31

¹ WikiPathways

² PubChem

³ R&D Systems

⁴ Reactome

⁵ GeneGo (Thomson Reuters)

⁶ QIAGEN

⁷ PharmGKB

⁸ Cell Signaling Technology

⁹ Sino Biological

¹⁰ Tocris

¹¹ MalaCards

Familial hyperlipidemia type 1

Pathway Network for Familial hyperlipidemia type 1

Pathway network for the Familial hyperlipidemia type 1 SuperPath

Member Pathways for Familial hyperlipidemia type 1

Pathways in the Familial hyperlipidemia type 1 SuperPath

Gene overlap in member pathways for Familial hyperlipidemia type 1 SuperPath

Associated Genes for Familial hyperlipidemia type 1

Associated Disorders for Familial hyperlipidemia type 1

Disorders associated with Familial hyperlipidemia type 1 SuperPath

STRING Interaction Network for Familial hyperlipidemia type 1

Sources for Familial hyperlipidemia type 1