Metabolism of steroids

Pathway network for the Metabolism of steroids SuperPath

Sources:

Reactome
WikiPathways
PubChem

Pathways in the Metabolism of steroids SuperPath

#	Name	Source	Genes
1	Metabolism of steroids	Reactome	ABCB11 ABCC3 ACACA ACACB ACAT2 ACOT8 ACOX2 AKR1B1 AKR1B15 AKR1C1 AKR1C2 AKR1C3 AKR1C4 AKR1D1 ALB AMACR ARV1 BAAT CARM1 CGA CH25H CHD9 CREBBP CUBN CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2R1 CYP39A1 CYP46A1 CYP51A1 CYP7A1 CYP7B1 CYP8B1 DHCR24 DHCR7 EBP ELOVL6 FABP6 FASN FDFT1 FDPS FDX1 FDX2 FDXR GC GGPS1 GPAM HELZ2 HMGCR HMGCS1 HSD11B1 HSD11B2 HSD17B1 HSD17B11 HSD17B12 HSD17B14 HSD17B2 HSD17B3 HSD17B4 HSD17B7 HSD3B1 HSD3B2 HSD3B7 IDI1 IDI2 INSIG1 INSIG2 KPNB1 LBR LDLRAP1 LGMN LHB LRP2 LSS MBTPS1 MBTPS2 MED1 MSMO1 MTF1 MVD MVK NCOA1 NCOA2 NCOA6 NFYA NFYB NFYC NR1H4 NSDHL OSBP OSBPL1A OSBPL2 OSBPL3 OSBPL6 OSBPL7 OSBPL9 PIAS4 PLPP6 PMVK POMC PPARA RAN RXRA SAR1B SC5D SCAP SCD SCP2 SEC23A SEC24A SEC24B SEC24C SEC24D SERPINA6 SLC10A1 SLC10A2 SLC27A2 SLC27A5 SLC51A SLC51B SLCO1A2 SLCO1B1 SLCO1B3 SMARCD3 SP1 SQLE SRD5A1 SRD5A2 SRD5A3 SREBF1 SREBF2 STAR STARD3 STARD3NL STARD4 STARD5 STARD6 STS SUMO2 TBL1X TBL1XR1 TGS1 TM7SF2 TSPO TSPOAP1 UBE2I VDR (see all 154) (see less)
2	Sterol regulatory element-binding proteins (SREBP) signaling	WikiPathways	ACACA ACLY ACSS1 AKT1 AMFR ATF6 CAMP CDK8 CREB1 CYP51A1 DBI FASN FDFT1 FDPS FGF21 GPAM GSK3A HMGCR HMGCS1 IDI1 INS INSIG1 INSIG2 KPNB1 LDLR LPIN1 LPL LSS MBTPS1 MBTPS2 MDH1 MED15 MTOR MVD NFYA NR1H2 PIK3CA PPARG PPARGC1B PRKAA1 PRKAA2 PRKAB1 PRKAB2 PRKACA PRKAG1 PRKAG2 PRKAG3 RBP4 RNF139 SAR1A SAR1B SCAP SCARB1 SCD SEC13 SEC23A SEC23B SEC24A SEC24B SEC24C SEC24D SEC31A SEC31B SIRT1 SP1 SQLE SREBF1 SREBF2 YY1 (see all 69) (see less)
3	Regulation of cholesterol biosynthesis by SREBP (SREBF)	Reactome	ACACA ACACB CARM1 CHD9 CREBBP CYP51A1 DHCR7 ELOVL6 FASN FDFT1 FDPS GGPS1 GPAM HELZ2 HMGCR HMGCS1 IDI1 INSIG1 INSIG2 KPNB1 LSS MBTPS1 MBTPS2 MED1 MTF1 MVD MVK NCOA1 NCOA2 NCOA6 NFYA NFYB NFYC PMVK PPARA RAN RXRA SAR1B SC5D SCAP SCD SEC23A SEC24A SEC24B SEC24C SEC24D SMARCD3 SP1 SQLE SREBF1 SREBF2 TBL1X TBL1XR1 TGS1 TM7SF2 (see all 55) (see less)
4	Activation of gene expression by SREBF (SREBP)	Reactome	ACACA ACACB CARM1 CHD9 CREBBP CYP51A1 DHCR7 ELOVL6 FASN FDFT1 FDPS GGPS1 GPAM HELZ2 HMGCR HMGCS1 IDI1 LSS MED1 MTF1 MVD MVK NCOA1 NCOA2 NCOA6 NFYA NFYB NFYC PMVK PPARA RXRA SC5D SCD SMARCD3 SP1 SQLE SREBF1 SREBF2 TBL1X TBL1XR1 TGS1 TM7SF2 (see all 42) (see less)
5	Cholesterol synthesis disorders	WikiPathways	CYP51A1 DHCR24 DHCR7 EBP FDFT1 FDPS HMGCR HMGCS1 HSD3B2 IDI1 LBR LSS MSMO1 MVD MVK PMVK SC5D SQLE (see all 18) (see less)
6	Vitamin D (calciferol) metabolism	Reactome	CUBN CYP24A1 CYP27B1 CYP2R1 GC LDLRAP1 LGMN LRP2 PIAS4 SUMO2 UBE2I VDR (see all 12) (see less)
7	androgen biosynthesis	PubChem	AKR1C3 CYP17A1 HSD17B3 HSD3B1 HSD3B2 SRD5A1 SRD5A2 (see all 7) (see less)
8	Defective CYP17A1 causes AH5	Reactome	CYP17A1

Gene overlap in member pathways for Metabolism of steroids SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	CYP51A1	Cytochrome P450 Family 51 Subfamily A Member 1	Protein Coding	5
2	FDFT1	Farnesyl-Diphosphate Farnesyltransferase 1	Protein Coding	5
3	FDPS	Farnesyl Diphosphate Synthase	Protein Coding	5
4	HMGCR	3-Hydroxy-3-Methylglutaryl-CoA Reductase	Protein Coding	5
5	HMGCS1	3-Hydroxy-3-Methylglutaryl-CoA Synthase 1	Protein Coding	5
6	IDI1	Isopentenyl-Diphosphate Delta Isomerase 1	Protein Coding	5
7	LSS	Lanosterol Synthase	Protein Coding	5
8	MVD	Mevalonate Diphosphate Decarboxylase	Protein Coding	5
9	SQLE	Squalene Epoxidase	Protein Coding	5
10	PMVK	Phosphomevalonate Kinase	Protein Coding	4
11	DHCR7	7-Dehydrocholesterol Reductase	Protein Coding	4
12	FASN	Fatty Acid Synthase	Protein Coding	4
13	ACACA	Acetyl-CoA Carboxylase Alpha	Protein Coding	4
14	MVK	Mevalonate Kinase	Protein Coding	4
15	NFYA	Nuclear Transcription Factor Y Subunit Alpha	Protein Coding	4
16	GPAM	Glycerol-3-Phosphate Acyltransferase, Mitochondrial	Protein Coding	4
17	SC5D	Sterol-C5-Desaturase	Protein Coding	4
18	SCD	Stearoyl-CoA Desaturase	Protein Coding	4
19	SP1	Sp1 Transcription Factor	Protein Coding	4
20	SREBF1	Sterol Regulatory Element Binding Transcription Factor 1	Protein Coding	4
21	SREBF2	Sterol Regulatory Element Binding Transcription Factor 2	Protein Coding	4
22	SEC24B	SEC24 Homolog B, COPII Component	Protein Coding	3
23	SEC23A	SEC23 Homolog A, COPII Component	Protein Coding	3
24	CARM1	Coactivator Associated Arginine Methyltransferase 1	Protein Coding	3
25	NCOA2	Nuclear Receptor Coactivator 2	Protein Coding	3
26	SEC24A	SEC24 Homolog A, COPII Component	Protein Coding	3
27	CREBBP	CREB Binding Lysine Acetyltransferase	Protein Coding	3
28	CYP17A1	Cytochrome P450 Family 17 Subfamily A Member 1	Protein Coding	3
29	SCAP	SREBF Chaperone	Protein Coding	3
30	NCOA6	Nuclear Receptor Coactivator 6	Protein Coding	3
31	ACACB	Acetyl-CoA Carboxylase Beta	Protein Coding	3
32	HSD3B2	Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 2	Protein Coding	3
33	INSIG1	Insulin Induced Gene 1	Protein Coding	3
34	KPNB1	Karyopherin Subunit Beta 1	Protein Coding	3
35	MTF1	Metal Regulatory Transcription Factor 1	Protein Coding	3
36	NFYB	Nuclear Transcription Factor Y Subunit Beta	Protein Coding	3
37	NFYC	Nuclear Transcription Factor Y Subunit Gamma	Protein Coding	3
38	SAR1B	Secretion Associated Ras Related GTPase 1B	Protein Coding	3
39	INSIG2	Insulin Induced Gene 2	Protein Coding	3
40	MBTPS2	Membrane Bound Transcription Factor Peptidase, Site 2	Protein Coding	3
41	PPARA	Peroxisome Proliferator Activated Receptor Alpha	Protein Coding	3
42	MED1	Mediator Complex Subunit 1	Protein Coding	3
43	RXRA	Retinoid X Receptor Alpha	Protein Coding	3
44	SMARCD3	SWI/SNF Related BAF Chromatin Remodeling Complex Subunit D3	Protein Coding	3
45	TBL1X	Transducin Beta Like 1 X-Linked	Protein Coding	3
46	TM7SF2	Transmembrane 7 Superfamily Member 2	Protein Coding	3
47	ELOVL6	ELOVL Fatty Acid Elongase 6	Protein Coding	3
48	TBL1XR1	TBL1X/Y Related 1	Protein Coding	3
49	CHD9	Chromodomain Helicase DNA Binding Protein 9	Protein Coding	3
50	HELZ2	Helicase With Zinc Finger 2	Protein Coding	3
51	NCOA1	Nuclear Receptor Coactivator 1	Protein Coding	3
52	MBTPS1	Membrane Bound Transcription Factor Peptidase, Site 1	Protein Coding	3
53	GGPS1	Geranylgeranyl Diphosphate Synthase 1	Protein Coding	3
54	SEC24C	SEC24 Homolog C, COPII Component	Protein Coding	3
55	TGS1	Trimethylguanosine Synthase 1	Protein Coding	3
56	SEC24D	SEC24 Homolog D, COPII Component	Protein Coding	3
57	EBP	EBP Cholestenol Delta-Isomerase	Protein Coding	2
58	CYP2R1	Cytochrome P450 Family 2 Subfamily R Member 1	Protein Coding	2
59	CYP24A1	Cytochrome P450 Family 24 Subfamily A Member 1	Protein Coding	2
60	CYP27B1	Cytochrome P450 Family 27 Subfamily B Member 1	Protein Coding	2
61	DHCR24	24-Dehydrocholesterol Reductase	Protein Coding	2
62	LDLRAP1	Low Density Lipoprotein Receptor Adaptor Protein 1	Protein Coding	2
63	GC	GC Vitamin D Binding Protein	Protein Coding	2
64	HSD3B1	Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 1	Protein Coding	2
65	HSD17B3	Hydroxysteroid 17-Beta Dehydrogenase 3	Protein Coding	2
66	LBR	Lamin B Receptor	Protein Coding	2
67	LRP2	LDL Receptor Related Protein 2	Protein Coding	2
68	PIAS4	Protein Inhibitor Of Activated STAT 4	Protein Coding	2
69	LGMN	Legumain	Protein Coding	2
70	RAN	RAN, Member RAS Oncogene Family	Protein Coding	2
71	MSMO1	Methylsterol Monooxygenase 1	Protein Coding	2
72	SUMO2	Small Ubiquitin Like Modifier 2	Protein Coding	2
73	SRD5A1	Steroid 5 Alpha-Reductase 1	Protein Coding	2
74	SRD5A2	Steroid 5 Alpha-Reductase 2	Protein Coding	2
75	UBE2I	Ubiquitin Conjugating Enzyme E2 I	Protein Coding	2
76	VDR	Vitamin D Receptor	Protein Coding	2
77	CUBN	Cubilin	Protein Coding	2
78	AKR1C3	Aldo-Keto Reductase Family 1 Member C3	Protein Coding	2
79	ACOT8	Acyl-CoA Thioesterase 8	Protein Coding	1
80	SLCO1B1	Solute Carrier Organic Anion Transporter Family Member 1B1	Protein Coding	1
81	CGA	Glycoprotein Hormones, Alpha Polypeptide	Protein Coding	1
82	CYP46A1	Cytochrome P450 Family 46 Subfamily A Member 1	Protein Coding	1
83	STARD3	StAR Related Lipid Transfer Domain Containing 3	Protein Coding	1
84	SLC27A5	Solute Carrier Family 27 Member 5	Protein Coding	1
85	SLC27A2	Solute Carrier Family 27 Member 2	Protein Coding	1
86	AKR1C4	Aldo-Keto Reductase Family 1 Member C4	Protein Coding	1
87	FDX2	Ferredoxin 2	Protein Coding	1
88	OSBPL1A	Oxysterol Binding Protein Like 1A	Protein Coding	1
89	OSBPL6	Oxysterol Binding Protein Like 6	Protein Coding	1
90	OSBPL7	Oxysterol Binding Protein Like 7	Protein Coding	1
91	OSBPL9	Oxysterol Binding Protein Like 9	Protein Coding	1
92	SLC51B	SLC51 Subunit Beta	Protein Coding	1
93	STARD4	StAR Related Lipid Transfer Domain Containing 4	Protein Coding	1
94	STARD6	StAR Related Lipid Transfer Domain Containing 6	Protein Coding	1
95	CYP7A1	Cytochrome P450 Family 7 Subfamily A Member 1	Protein Coding	1
96	CYP8B1	Cytochrome P450 Family 8 Subfamily B Member 1	Protein Coding	1
97	CYP11A1	Cytochrome P450 Family 11 Subfamily A Member 1	Protein Coding	1
98	CYP11B1	Cytochrome P450 Family 11 Subfamily B Member 1	Protein Coding	1
99	CYP11B2	Cytochrome P450 Family 11 Subfamily B Member 2	Protein Coding	1
100	CYP19A1	Cytochrome P450 Family 19 Subfamily A Member 1	Protein Coding	1
101	CYP21A2	Cytochrome P450 Family 21 Subfamily A Member 2	Protein Coding	1
102	CYP27A1	Cytochrome P450 Family 27 Subfamily A Member 1	Protein Coding	1
103	AKR1C1	Aldo-Keto Reductase Family 1 Member C1	Protein Coding	1
104	AKR1C2	Aldo-Keto Reductase Family 1 Member C2	Protein Coding	1
105	SLC51A	Solute Carrier Family 51 Member A	Protein Coding	1
106	ALB	Albumin	Protein Coding	1
107	FABP6	Fatty Acid Binding Protein 6	Protein Coding	1
108	FDX1	Ferredoxin 1	Protein Coding	1
109	FDXR	Ferredoxin Reductase	Protein Coding	1
110	AKR1B1	Aldo-Keto Reductase Family 1 Member B	Protein Coding	1
111	AMACR	Alpha-Methylacyl-CoA Racemase	Protein Coding	1
112	OSBPL3	Oxysterol Binding Protein Like 3	Protein Coding	1
113	SLCO1B3	Solute Carrier Organic Anion Transporter Family Member 1B3	Protein Coding	1
114	HSD11B1	Hydroxysteroid 11-Beta Dehydrogenase 1	Protein Coding	1
115	HSD11B2	Hydroxysteroid 11-Beta Dehydrogenase 2	Protein Coding	1
116	HSD17B1	Hydroxysteroid 17-Beta Dehydrogenase 1	Protein Coding	1
117	HSD17B2	Hydroxysteroid 17-Beta Dehydrogenase 2	Protein Coding	1
118	HSD17B4	Hydroxysteroid 17-Beta Dehydrogenase 4	Protein Coding	1
119	ACAT2	Acetyl-CoA Acetyltransferase 2	Protein Coding	1
120	LHB	Luteinizing Hormone Subunit Beta	Protein Coding	1
121	PLPP6	Phospholipid Phosphatase 6	Protein Coding	1
122	STS	Steroid Sulfatase	Protein Coding	1
123	AKR1B15	Aldo-Keto Reductase Family 1 Member B15	Protein Coding	1
124	OSBP	Oxysterol Binding Protein~Name Same As:- HGNC:17242	Protein Coding	1
125	NSDHL	NAD(P) Dependent 3-Beta-Hydroxysteroid Dehydrogenase NSDHL	Protein Coding	1
126	HSD17B12	Hydroxysteroid 17-Beta Dehydrogenase 12	Protein Coding	1
127	HSD17B11	Hydroxysteroid 17-Beta Dehydrogenase 11	Protein Coding	1
128	HSD17B14	Hydroxysteroid 17-Beta Dehydrogenase 14	Protein Coding	1
129	CYP39A1	Cytochrome P450 Family 39 Subfamily A Member 1	Protein Coding	1
130	HSD17B7	Hydroxysteroid 17-Beta Dehydrogenase 7	Protein Coding	1
131	POMC	Proopiomelanocortin	Protein Coding	1
132	BAAT	Bile Acid-CoA:Amino Acid N-Acyltransferase	Protein Coding	1
133	SCP2	Sterol Carrier Protein 2	Protein Coding	1
134	ARV1	ARV1 Fatty Acid Homeostasis Modulator	Protein Coding	1
135	SLC10A1	Solute Carrier Family 10 Member 1	Protein Coding	1
136	SLC10A2	Solute Carrier Family 10 Member 2	Protein Coding	1
137	SLCO1A2	Solute Carrier Organic Anion Transporter Family Member 1A2	Protein Coding	1
138	AKR1D1	Aldo-Keto Reductase Family 1 Member D1	Protein Coding	1
139	STAR	Steroidogenic Acute Regulatory Protein	Protein Coding	1
140	TSPO	Translocator Protein	Protein Coding	1
141	SRD5A3	Steroid 5 Alpha-Reductase 3	Protein Coding	1
142	HSD3B7	Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 7	Protein Coding	1
143	STARD5	StAR Related Lipid Transfer Domain Containing 5	Protein Coding	1
144	ACOX2	Acyl-CoA Oxidase 2	Protein Coding	1
145	STARD3NL	STARD3 N-Terminal Like	Protein Coding	1
146	ABCB11	ATP Binding Cassette Subfamily B Member 11	Protein Coding	1
147	SERPINA6	Serpin Family A Member 6	Protein Coding	1
148	ABCC3	ATP Binding Cassette Subfamily C Member 3	Protein Coding	1
149	CH25H	Cholesterol 25-Hydroxylase	Protein Coding	1
150	IDI2	Isopentenyl-Diphosphate Delta Isomerase 2	Protein Coding	1
151	TSPOAP1	TSPO Associated Protein 1	Protein Coding	1
152	CYP7B1	Cytochrome P450 Family 7 Subfamily B Member 1	Protein Coding	1
153	OSBPL2	Oxysterol Binding Protein Like 2	Protein Coding	1
154	NR1H4	Nuclear Receptor Subfamily 1 Group H Member 4	Protein Coding	1
155	INS	Insulin	Protein Coding	1
156	ACSS1	Acyl-CoA Synthetase Short Chain Family Member 1	Protein Coding	1
157	SAR1A	Secretion Associated Ras Related GTPase 1A	Protein Coding	1
158	SCARB1	Scavenger Receptor Class B Member 1	Protein Coding	1
159	CAMP	Cathelicidin Antimicrobial Peptide	Protein Coding	1
160	YY1	YY1 Transcription Factor	Protein Coding	1
161	NR1H2	Nuclear Receptor Subfamily 1 Group H Member 2	Protein Coding	1
162	RBP4	Retinol Binding Protein 4	Protein Coding	1
163	PRKACA	Protein Kinase CAMP-Activated Catalytic Subunit Alpha	Protein Coding	1
164	PRKAB1	Protein Kinase AMP-Activated Non-Catalytic Subunit Beta 1	Protein Coding	1
165	PRKAA2	Protein Kinase AMP-Activated Catalytic Subunit Alpha 2	Protein Coding	1
166	PRKAA1	Protein Kinase AMP-Activated Catalytic Subunit Alpha 1	Protein Coding	1
167	PPARG	Peroxisome Proliferator Activated Receptor Gamma	Protein Coding	1
168	PRKAG3	Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 3	Protein Coding	1
169	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	1
170	PRKAG2	Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2	Protein Coding	1
171	ACLY	ATP Citrate Lyase	Protein Coding	1
172	MDH1	Malate Dehydrogenase 1	Protein Coding	1
173	LPL	Lipoprotein Lipase	Protein Coding	1
174	LDLR	Low Density Lipoprotein Receptor	Protein Coding	1
175	GSK3A	Glycogen Synthase Kinase 3 Alpha	Protein Coding	1
176	AMFR	Autocrine Motility Factor Receptor	Protein Coding	1
177	FGF21	Fibroblast Growth Factor 21	Protein Coding	1
178	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	1
179	SIRT1	Sirtuin 1	Protein Coding	1
180	LPIN1	Lipin 1	Protein Coding	1
181	ATF6	Activating Transcription Factor 6	Protein Coding	1
182	SEC31A	SEC31 Homolog A, COPII Component	Protein Coding	1
183	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	1
184	DBI	Diazepam Binding Inhibitor, Acyl-CoA Binding Protein	Protein Coding	1
185	CREB1	CAMP Responsive Element Binding Protein 1	Protein Coding	1
186	PPARGC1B	PPARG Coactivator 1 Beta	Protein Coding	1
187	RNF139	Ring Finger Protein 139	Protein Coding	1
188	SEC23B	SEC23 Homolog B, COPII Component	Protein Coding	1
189	CDK8	Cyclin Dependent Kinase 8	Protein Coding	1
190	SEC13	SEC13 Homolog, Nuclear Pore And COPII Component	Protein Coding	1
191	PRKAG1	Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 1	Protein Coding	1
192	PRKAB2	Protein Kinase AMP-Activated Non-Catalytic Subunit Beta 2	Protein Coding	1
193	MED15	Mediator Complex Subunit 15	Protein Coding	1
194	SEC31B	SEC31 Homolog B, COPII Component	Protein Coding	1

Disorders associated with Metabolism of steroids SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Adrenal gland disease	Direct
2	Lipoid congenital adrenal hyperplasia	Enrichment	CYP11A1, CYP11B1, CYP17A1, CYP21A2, HSD3B2, STAR	8.27
3	Porokeratosis	Enrichment	FDPS, MVD, MVK	8.11
4	Pulmonary disease, chronic obstructive	Enrichment	CYP2R1, GC, VDR	6.82
5	Porokeratosis 1, multiple types	Enrichment	MVK, PMVK	5.78
6	Vitamin d hydroxylation-deficient rickets, type 1a	Enrichment	CYP27B1, CYP2R1	5.67
7	Linear porokeratosis	Enrichment	MVD, PMVK	5.30
8	Cowden syndrome	Enrichment	AKT1, PIK3CA, SEC23B	4.98
9	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	Enrichment	CYP11A1, CYP17A1, CYP21A2	4.55
10	21-hydroxylase-deficient congenital adrenal hyperplasia	Enrichment	CYP11A1, CYP17A1, CYP21A2	4.55
11	Ifap syndrome 1, with or without bresheck syndrome	Enrichment	MBTPS2, SREBF1	4.32
12	Congenital bile acid synthesis defect	Enrichment	AKR1D1, HSD3B7	3.89
13	Osteogenesis imperfecta, type i	Enrichment	MBTPS2, SEC24D	3.62
14	Hyperlipidemia, familial combined, 3	Enrichment	LDLR, LPL	3.60
15	Hemimegalencephaly	Enrichment	MTOR, PIK3CA	3.60
16	Cowden syndrome 1	Enrichment	LDLR, PIK3CA	3.42
17	Breast adenocarcinoma	Enrichment	AKT1, PIK3CA	3.42
18	Hyperbilirubinemia, rotor type	Enrichment	SLCO1B1, SLCO1B3	3.42
19	46,xy sex reversal 8	Enrichment	AKR1C2, AKR1C4	3.42
20	46,xy disorder of sex development due to 5-alpha-reductase 2 deficiency	Enrichment	SRD5A2	3.29
21	Intrahepatic cholestasis of pregnancy	Enrichment	ABCB11, NR1H4	3.12
22	Donnai-barrow syndrome	Enrichment	LRP2	3.05
23	Prolactin-producing pituitary gland adenoma	Enrichment	LRP2	3.05
24	Rickets	Enrichment	VDR	3.05
25	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency	Enrichment	HSD3B2	2.99
26	Xanthinuria, type i	Enrichment	SRD5A2	2.99
27	17-beta hydroxysteroid dehydrogenase iii deficiency	Enrichment	HSD17B3	2.99
28	Hypospadias 1, x-linked	Enrichment	HSD3B2	2.99
29	3 beta-hydroxysteroid dehydrogenase deficiency	Enrichment	HSD3B2	2.99
30	Porokeratosis 3, multiple types	Enrichment	MVK	2.88
31	Desmosterolosis	Enrichment	DHCR24	2.88
32	Palmoplantar keratoderma and congenital alopecia 2	Enrichment	LSS	2.88
33	Greenberg dysplasia	Enrichment	LBR	2.88
34	Pelger-huet anomaly	Enrichment	LBR	2.88
35	Rhizomelic skeletal dysplasia with or without pelger-huet anomaly	Enrichment	LBR	2.88
36	Chondrodysplasia punctata 2, x-linked dominant	Enrichment	EBP	2.88
37	Mend syndrome	Enrichment	EBP	2.88
38	Mevalonic aciduria	Enrichment	MVK	2.88
39	Porokeratosis 7, multiple types	Enrichment	MVD	2.88
40	Reynolds syndrome	Enrichment	LBR	2.88
41	Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome	Enrichment	CYP51A1	2.88
42	Hypotrichosis 14	Enrichment	LSS	2.88
43	Microcephaly, congenital cataract, and psoriasiform dermatitis	Enrichment	MSMO1	2.88
44	Low density lipoprotein cholesterol level quantitative trait locus 3	Enrichment	HMGCR	2.88
45	Muscular dystrophy, limb-girdle, autosomal recessive 28	Enrichment	HMGCR	2.88
46	Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency	Enrichment	CYP17A1	2.81
47	Diffuse large b-cell lymphoma	Enrichment	CREBBP, TBL1XR1	2.81
48	Meningioma	Enrichment	AKT1, PIK3CA	2.79
49	Vitamin d hydroxylation-deficient rickets, type 1b	Enrichment	CYP2R1	2.75
50	Hypercalcemia, infantile, 1	Enrichment	CYP24A1	2.75
51	Autosomal recessive infantile hypercalcemia	Enrichment	CYP24A1	2.75
52	Non-syndromic syndactyly	Enrichment	LRP2	2.75
53	Hyperaldosteronism, familial, type i	Enrichment	CYP11B1, CYP11B2	2.73
54	Familial hypercholanemia	Enrichment	BAAT, SLC10A1	2.73
55	Renal cell carcinoma, nonpapillary	Enrichment	MTOR, RNF139	2.59
56	Pseudovaginal perineoscrotal hypospadias	Enrichment	SRD5A2	2.59
57	Pseudohermaphroditism	Enrichment	HSD17B3	2.59
58	Hypercholesterolemia, familial, 4	Enrichment	LDLRAP1	2.58
59	Proteinuria, chronic benign	Enrichment	CUBN	2.58
60	Hyper-igd syndrome	Enrichment	MVK	2.58
61	Methylmalonic aciduria, cblb type	Enrichment	MVK	2.58
62	Porokeratosis 5, disseminated superficial actinic type	Enrichment	MVK	2.58
63	Lathosterolosis	Enrichment	SC5D	2.58
64	Squalene synthase deficiency	Enrichment	FDFT1	2.58
65	Alopecia-intellectual disability syndrome 4	Enrichment	LSS	2.58
66	Porokeratosis 9, multiple types	Enrichment	FDPS	2.58
67	Hypothyroidism, congenital, nongoitrous, 8	Enrichment	TBL1X	2.51
68	Mucoepithelial dysplasia, hereditary	Enrichment	SREBF1	2.51
69	Acetyl-coa carboxylase-alpha deficiency	Enrichment	ACACA	2.51
70	Ifap syndrome 2	Enrichment	SREBF1	2.51
71	Menke-hennekam syndrome 1	Enrichment	CREBBP	2.51
72	Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome	Enrichment	GGPS1	2.51
73	Rubinstein-taybi syndrome due to 16p13.3 microdeletion	Enrichment	CREBBP	2.51
74	Menke-hennekam syndrome	Enrichment	CREBBP	2.51
75	Prolactinoma	Enrichment	LRP2	2.45
76	Alopecia - intellectual disability syndrome	Enrichment	LSS	2.40
77	Olmsted syndrome, x-linked	Enrichment	MBTPS2	2.39
78	Osteogenesis imperfecta, type xix	Enrichment	MBTPS2	2.39
79	Keratosis follicularis spinulosa decalvans, x-linked	Enrichment	MBTPS2	2.39
80	Craniolenticulosutural dysplasia	Enrichment	SEC23A	2.39
81	Cole-carpenter syndrome 2	Enrichment	SEC24D	2.39
82	Cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome	Enrichment	MBTPS1	2.39
83	Ifap syndrome	Enrichment	MBTPS2	2.39
84	Bresek syndrome	Enrichment	MBTPS2	2.39
85	Difference of sex development	Enrichment	HSD17B3	2.38
86	Perrault syndrome 2	Enrichment	GGPS1, HSD17B4	2.36
87	Vitamin d-dependent rickets, type 2a	Enrichment	VDR	2.35
88	Macrodactyly	Enrichment	PIK3CA	2.29
89	Proteus syndrome	Enrichment	AKT1	2.29
90	Megalencephaly, autosomal dominant	Enrichment	PIK3CA	2.29
91	High density lipoprotein cholesterol level quantitative trait locus 6	Enrichment	SCARB1	2.29
92	Cowden syndrome 5	Enrichment	PIK3CA	2.29
93	Microphthalmia/coloboma 10	Enrichment	RBP4	2.29
94	Halperin-birk syndrome	Enrichment	SEC31A	2.29
95	Cerebral cavernous malformations 4	Enrichment	PIK3CA	2.29
96	Cardiomyopathy, familial hypertrophic, 6	Enrichment	PRKAG2	2.29
97	Glycogen storage disease of heart, lethal congenital	Enrichment	PRKAG2	2.29
98	Hemifacial myohyperplasia	Enrichment	PIK3CA	2.29
99	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth	Enrichment	PIK3CA	2.29
100	Cowden syndrome 6	Enrichment	AKT1	2.29
101	Pigmented nodular adrenocortical disease, primary, 4	Enrichment	PRKACA	2.29
102	Achromatopsia 7	Enrichment	ATF6	2.29
103	Skeletal muscle glycogen content and metabolism quantitative trait locus	Enrichment	PRKAG3	2.29
104	Cardioacrofacial dysplasia 1	Enrichment	PRKACA	2.29
105	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	Enrichment	PIK3CA	2.29
106	Pparg-associated congenital generalized lipodystrophy	Enrichment	PPARG	2.29
107	Hypospadias	Enrichment	PIK3CA	2.29
108	Rare venous malformation	Enrichment	PIK3CA	2.29
109	Diaphragmatic eventration	Enrichment	PIK3CA	2.29
110	Pik3ca-related overgrowth spectrum	Enrichment	PIK3CA	2.29
111	Rare combined vascular malformation	Enrichment	PIK3CA	2.29
112	Cavernous lymphangioma	Enrichment	PIK3CA	2.29
113	Pik3ca-related overgrowth syndrome	Enrichment	PIK3CA	2.29
114	Hemihyperplasia-multiple lipomatosis syndrome	Enrichment	PIK3CA	2.29
115	Eccrine angiomatous hamartoma	Enrichment	PIK3CA	2.29
116	Macrodactyly of toe	Enrichment	PIK3CA	2.29
117	Megaloblastic anemia	Enrichment	CUBN	2.28
118	Smith-lemli-opitz syndrome	Enrichment	DHCR7	2.28
119	Epilepsy, myoclonic juvenile	Enrichment	HSD17B3	2.25
120	Imerslund-grasbeck syndrome 1	Enrichment	CUBN	2.21
121	Thumb deformity	Enrichment	CREBBP	2.21
122	Acute myeloid leukemia with kat6a-crebbp fusion	Enrichment	CREBBP	2.21
123	Congenital myopathy 3 with rigid spine	Enrichment	HMGCS1	2.18
124	Homozygous familial hypercholesterolemia	Enrichment	LDLRAP1	2.15
125	Chylomicron retention disease	Enrichment	SAR1B	2.09
126	Spondyloepiphyseal dysplasia, kondo-fu type	Enrichment	MBTPS1	2.09
127	Isolated methylmalonic acidemia	Enrichment	MVK	2.03
128	Pierpont syndrome	Enrichment	TBL1XR1	2.03
129	Tethered spinal cord syndrome	Enrichment	CREBBP	2.03
130	Intraocular pressure quantitative trait locus	Enrichment	CREBBP	2.03
131	Intellectual developmental disorder, autosomal dominant 41	Enrichment	TBL1XR1	2.03
132	Colorectal cancer	Enrichment	AKT1, PIK3CA, PPARG	2.01
133	Hyperlipoproteinemia, type i	Enrichment	LPL	1.99
134	Anemia, congenital dyserythropoietic, type ii	Enrichment	SEC23B	1.99
135	Ebstein anomaly	Enrichment	CDK8	1.99
136	Carotid intimal medial thickness 1	Enrichment	PPARG	1.99
137	Histiocytoma, angiomatoid fibrous	Enrichment	CREB1	1.99
138	Keratosis, seborrheic	Enrichment	PIK3CA	1.99
139	Lipase deficiency, combined	Enrichment	LPL	1.99
140	Maturity-onset diabetes of the young, type 10	Enrichment	INS	1.99
141	Noonan syndrome 8	Enrichment	PIK3CA	1.99
142	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome	Enrichment	RBP4	1.99
143	Gabriele-de vries syndrome	Enrichment	YY1	1.99
144	Hyperproinsulinemia	Enrichment	INS	1.99
145	Cebalid syndrome	Enrichment	MTOR	1.99
146	Developmental and epileptic encephalopathy 88	Enrichment	MDH1	1.99
147	Hyperlipoproteinemia, type iii	Enrichment	LDLR	1.99
148	Cowden syndrome 7	Enrichment	SEC23B	1.99
149	Rosette-forming glioneuronal tumor	Enrichment	PIK3CA	1.99
150	Congenital dyserythropoietic anemia	Enrichment	SEC23B	1.99
151	Fibrolamellar carcinoma	Enrichment	PRKACA	1.99
152	Diabetes mellitus, permanent neonatal, 4	Enrichment	INS	1.99
153	Developmental and epileptic encephalopathy 78	Enrichment	YY1	1.99
154	Familial lipoprotein lipase deficiency	Enrichment	LPL	1.99
155	Insulinoma	Enrichment	YY1	1.99
156	Smith-kingsmore syndrome	Enrichment	MTOR	1.99
157	Spastic paraplegia 89, autosomal recessive	Enrichment	AMFR	1.99
158	Intellectual developmental disorder with hypotonia and behavioral abnormalities	Enrichment	CDK8	1.99
159	Progressive retinal dystrophy due to retinol transport defect	Enrichment	RBP4	1.99
160	Familial partial lipodystrophy	Enrichment	PPARG	1.99
161	Methylmalonic acidemia	Enrichment	MVK	1.98
162	Bile acid synthesis defect, congenital, 2	Enrichment	AKR1D1	1.94
163	Apparent mineralocorticoid excess	Enrichment	HSD11B2	1.94
164	Ck syndrome	Enrichment	NSDHL	1.94
165	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	Enrichment	NSDHL	1.94
166	Corticosteroid-binding globulin deficiency	Enrichment	SERPINA6	1.94
167	Adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete	Enrichment	CYP11A1	1.94
168	Bile acid synthesis defect, congenital, 3	Enrichment	CYP7B1	1.94
169	Hyperthyroxinemia, familial dysalbuminemic	Enrichment	ALB	1.94
170	Hypogonadotropic hypogonadism 23 with or without anosmia	Enrichment	LHB	1.94
171	Cerebrotendinous xanthomatosis	Enrichment	CYP27A1	1.94
172	Bile acid synthesis defect, congenital, 6	Enrichment	ACOX2	1.94
173	Dystonia 22, adult-onset	Enrichment	TSPOAP1	1.94
174	Bile acid malabsorption, primary, 1	Enrichment	SLC10A2	1.94
175	Hypercholanemia, familial, 2	Enrichment	SLC10A1	1.94
176	Kahrizi syndrome	Enrichment	SRD5A3	1.94
177	Bile acid synthesis defect, congenital, 1	Enrichment	HSD3B7	1.94
178	Leukoencephalopathy with dystonia and motor neuropathy	Enrichment	SCP2	1.94
179	Cholestasis, progressive familial intrahepatic, 5	Enrichment	NR1H4	1.94
180	Acetyl-coa acetyltransferase-2 deficiency	Enrichment	ACAT2	1.94
181	Deafness, autosomal dominant 67	Enrichment	OSBPL2	1.94
182	Congenital analbuminemia	Enrichment	ALB	1.94
183	Cholestasis, progressive familial intrahepatic, 6	Enrichment	SLC51A	1.94
184	Hypercholanemia, familial 3	Enrichment	BAAT	1.94
185	Analbuminemia	Enrichment	ALB	1.94
186	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	Enrichment	CYP7A1	1.94
187	Syndromic recessive x-linked ichthyosis	Enrichment	STS	1.94
188	Inherited isolated adrenal insufficiency due to partial cyp11a1 deficiency	Enrichment	CYP11A1	1.94
189	Non-classic congenital lipoid adrenal hyperplasia due to star deficency	Enrichment	STAR	1.94
190	Nsdhl-related disorders	Enrichment	NSDHL	1.94
191	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	Enrichment	FDXR	1.94
192	Classic congenital lipoid adrenal hyperplasia due to star deficency	Enrichment	STAR	1.94
193	Chronic kidney disease	Enrichment	CUBN	1.94
194	Limb-girdle muscular dystrophy	Enrichment	HMGCR	1.93
195	Hypotrichosis simplex	Enrichment	LSS	1.93
196	Keratosis follicularis spinulosa decalvans	Enrichment	MBTPS2	1.92
197	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	Enrichment	MBTPS2	1.92
198	Cole-carpenter syndrome	Enrichment	SEC24D	1.92
199	Multiple sclerosis	Enrichment	CYP27B1	1.91
200	Myeloma, multiple	Enrichment	CREBBP, RXRA	1.89
201	Familial hypercholesterolemia	Enrichment	LDLRAP1	1.88
202	Perrault syndrome 1	Enrichment	GGPS1, HSD17B4	1.86
203	Prostate cancer	Enrichment	SRD5A2	1.83
204	Type 1 diabetes mellitus 2	Enrichment	INS	1.82
205	Hyperalphalipoproteinemia 1	Enrichment	SCARB1	1.82
206	Hypercholesterolemia, familial, 2	Enrichment	LDLR	1.82
207	Pompe disease, infantile-onset	Enrichment	PIK3CA	1.82
208	Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia	Enrichment	LDLR	1.82
209	Myoglobinuria, acute recurrent, autosomal recessive	Enrichment	LPIN1	1.82
210	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	PIK3CA	1.82
211	Syndromic x-linked intellectual disability najm type	Enrichment	LDLR	1.82
212	Melanoma of soft tissue	Enrichment	CREB1	1.82
213	Keratoacanthoma	Enrichment	PIK3CA	1.82
214	Rubinstein-taybi syndrome 1	Enrichment	CREBBP	1.73
215	Chromosome 16p13.3 deletion syndrome, proximal	Enrichment	CREBBP	1.73
216	Hypertrichosis	Enrichment	CREBBP	1.73
217	Hepatocellular carcinoma	Enrichment	VDR	1.71
218	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	PIK3CA	1.69
219	Lipodystrophy, familial partial, type 3	Enrichment	PPARG	1.69
220	Focal cortical dysplasia, type ii	Enrichment	MTOR	1.69
221	Leptin deficiency or dysfunction	Enrichment	PPARG	1.69
222	Congenital generalized lipodystrophy	Enrichment	PPARG	1.69
223	Neonatal diabetes mellitus	Enrichment	INS	1.69
224	Cerebrovascular disease	Enrichment	PIK3CA	1.69
225	Hereditary recurrent myoglobinuria	Enrichment	LPIN1	1.69
226	Familial cerebral cavernous malformations	Enrichment	PIK3CA	1.69
227	Coronary artery anomaly	Enrichment	LPL	1.69
228	Isolated focal cortical dysplasia type ii	Enrichment	MTOR	1.69
229	Hereditary breast carcinoma	Enrichment	AKT1, PIK3CA	1.68
230	Isolated congenital microcephaly	Enrichment	DHCR7	1.68
231	Cataract 44	Enrichment	LSS	1.65
232	Corticosterone methyloxidase type i deficiency	Enrichment	CYP11B2	1.65
233	Alpha-methylacetoacetic aciduria	Enrichment	ACAT2	1.65
234	Toe syndactyly, telecanthus, and anogenital and renal malformations	Enrichment	STAR	1.65
235	Cholestasis, progressive familial intrahepatic, 3	Enrichment	ABCB11	1.65
236	Corticosterone methyloxidase type ii deficiency	Enrichment	CYP11B2	1.65
237	Cholestasis, benign recurrent intrahepatic, 2	Enrichment	ABCB11	1.65
238	Segawa syndrome, autosomal recessive	Enrichment	TSPOAP1	1.65
239	Cholestasis, progressive familial intrahepatic, 4	Enrichment	ABCB11	1.65
240	Bile acid synthesis defect, congenital, 4	Enrichment	AMACR	1.65
241	Alpha-methylacyl-coa racemase deficiency	Enrichment	AMACR	1.65
242	Cholestasis, intrahepatic, of pregnancy 3	Enrichment	ABCB11	1.65
243	Cholestasis, progressive familial intrahepatic, 2	Enrichment	ABCB11	1.65
244	Spastic paraplegia 5a, autosomal recessive	Enrichment	CYP7B1	1.65
245	Dystonia 22, juvenile-onset	Enrichment	TSPOAP1	1.65
246	Ichthyosis, x-linked	Enrichment	STS	1.65
247	Cortisone reductase deficiency 2	Enrichment	HSD11B1	1.65
248	Congenital disorder of glycosylation, type iq	Enrichment	SRD5A3	1.65
249	Cortisone reductase deficiency	Enrichment	HSD11B1	1.65
250	Bile acid malabsorption, primary, 2	Enrichment	SLC51B	1.65
251	Cic-rearranged sarcoma	Enrichment	AKR1C2	1.65
252	Developmental and epileptic encephalopathy 38	Enrichment	ARV1	1.65
253	Intrahepatic cholestasis	Enrichment	ABCB11	1.65
254	Familial hypoaldosteronism	Enrichment	CYP11B2	1.65
255	Early-onset familial hypoaldosteronism	Enrichment	CYP11B2	1.65
256	Myopathy, tubular aggregate, 1	Enrichment	GGPS1	1.61
257	Capillary malformations, congenital	Enrichment	PIK3CA	1.60
258	Hepatoblastoma	Enrichment	DHCR7	1.56
259	Primary ovarian insufficiency	Enrichment	CYP17A1	1.52
260	Klippel-trenaunay-weber syndrome	Enrichment	PIK3CA	1.52
261	Hemihyperplasia, isolated	Enrichment	PIK3CA	1.52
262	Type 1 diabetes mellitus	Enrichment	INS	1.52
263	Lipid metabolism disorder	Enrichment	LDLR	1.52
264	Lung squamous cell carcinoma	Enrichment	PIK3CA	1.52
265	Autoinflammatory disease	Enrichment	MVK	1.50
266	Congenital nervous system abnormality	Enrichment	ARV1, CREBBP, HSD17B4, SRD5A3	1.49
267	Nervous system disease	Enrichment	ARV1, CREBBP, HSD17B4, SRD5A3	1.49
268	Jeune thoracic dystrophy	Enrichment	LBR	1.49
269	Adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency	Enrichment	CYP11B1	1.47
270	Mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy	Enrichment	FDX2	1.47
271	D-bifunctional protein deficiency	Enrichment	HSD17B4	1.47
272	Obesity, early-onset, with adrenal insufficiency and red hair	Enrichment	POMC	1.47
273	Aromatase excess syndrome	Enrichment	CYP19A1	1.47
274	Auditory neuropathy and optic atrophy	Enrichment	FDXR	1.47
275	Multiple mitochondrial dysfunctions syndrome 9b	Enrichment	FDXR	1.47
276	Cholestasis	Enrichment	SLC51B	1.47
277	Aromatase deficiency	Enrichment	CYP19A1	1.47
278	Deficiency of steroid 11-beta-monooxygenase	Enrichment	CYP11B1	1.47
279	Obesity due to pro-opiomelanocortin deficiency	Enrichment	POMC	1.47
280	Hydrops fetalis, nonimmune	Enrichment	DHCR24	1.47
281	Nevus, epidermal	Enrichment	PIK3CA	1.45
282	Capillary malformation-arteriovenous malformation 1	Enrichment	PIK3CA	1.45
283	Renal cell carcinoma, papillary, 1	Enrichment	MTOR	1.45
284	Gallbladder cancer	Enrichment	PIK3CA	1.45
285	Overgrowth syndrome	Enrichment	MTOR	1.45
286	Hereditary clear cell renal cell carcinoma	Enrichment	RNF139	1.45
287	Asphyxiating thoracic dystrophy	Enrichment	LBR	1.44
288	Breast cancer	Enrichment	CYP17A1	1.42
289	Acute promyelocytic leukemia	Enrichment	TBL1XR1	1.40
290	Permanent neonatal diabetes mellitus	Enrichment	INS	1.40
291	Non-immune hydrops fetalis	Enrichment	DHCR24	1.39
292	Connective tissue disease	Enrichment	EBP	1.38
293	Heart disease	Enrichment	CREBBP	1.37
294	Short-rib thoracic dysplasia 1 with or without polydactyly	Enrichment	LBR	1.37
295	Ehlers-danlos syndrome, arthrochalasia type, 1	Enrichment	ALB	1.35
296	Ellis-van creveld syndrome	Enrichment	PRKACA	1.35
297	Coronary heart disease 5	Enrichment	LDLR	1.35
298	Arteriovenous malformation	Enrichment	PIK3CA	1.35
299	Adult hepatocellular carcinoma	Enrichment	PIK3CA	1.35
300	Corpus callosum, agenesis of	Enrichment	CREBBP	1.34
301	Isolated corpus callosum agenesis	Enrichment	CREBBP	1.34
302	Rare genetic intellectual disability	Enrichment	CREBBP	1.34
303	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	CREBBP	1.34
304	Digeorge syndrome	Enrichment	SEC24C	1.32
305	Myopathy, x-linked, with excessive autophagy	Enrichment	PIK3CA	1.30
306	Achromatopsia	Enrichment	ATF6	1.30
307	Osteogenesis imperfecta, type iv	Enrichment	MBTPS2	1.29
308	Lung non-small cell carcinoma	Enrichment	PIK3CA	1.26
309	Diabetes mellitus	Enrichment	INS	1.26
310	Autism spectrum disorder	Enrichment	SRD5A2	1.26
311	Familial glucocorticoid deficiency	Enrichment	STAR	1.26
312	Osteogenesis imperfecta, type iii	Enrichment	MBTPS2	1.23
313	Lip and oral cavity carcinoma	Enrichment	PIK3CA	1.23
314	Microphthalmia/coloboma 12	Enrichment	RBP4	1.19
315	Diaphragmatic hernia, congenital	Enrichment	CDK8	1.19
316	Hypercholesterolemia, familial, 1	Enrichment	LDLR	1.19
317	Developmental dysplasia of the hip 1	Enrichment	AKR1C1	1.18
318	Cholestasis, progressive familial intrahepatic, 1	Enrichment	NR1H4	1.18
319	Diarrhea	Enrichment	SLC51B	1.18
320	Scoliosis	Enrichment	CREBBP	1.14
321	Coloboma of macula	Enrichment	RBP4	1.13
322	Anterior segment dysgenesis	Enrichment	RBP4	1.13
323	Lynch syndrome	Enrichment	PIK3CA	1.13
324	Progressive familial intrahepatic cholestasis	Enrichment	ABCB11	1.11
325	Wolff-parkinson-white syndrome	Enrichment	PRKAG2	1.11
326	Hydrocephalus, congenital, 1	Enrichment	CDK8	1.11
327	Gliosarcoma	Enrichment	PPARG	1.11
328	Giant cell glioblastoma	Enrichment	PPARG	1.08
329	Hirschsprung disease 1	Enrichment	SREBF1	1.07
330	Perrault syndrome	Enrichment	HSD17B4	1.06
331	Heart, malformation of	Enrichment	CDK8	1.06
332	Ovarian cancer	Enrichment	AKT1, PIK3CA	1.03
333	Macs syndrome	Enrichment	RBP4	1.01
334	Maturity-onset diabetes of the young	Enrichment	INS	1.01
335	Cardiomyopathy, dilated, 1a	Enrichment	LPL	0.99
336	Endometrial cancer	Enrichment	PIK3CA	0.99
337	Microphthalmia	Enrichment	RBP4	0.97
338	Optic nerve disease	Enrichment	SRD5A3	0.97
339	Gilbert syndrome	Enrichment	SLCO1B1	0.93
340	Mitochondrial myopathy	Enrichment	FDX2	0.93
341	Developmental and epileptic encephalopathy	Enrichment	SEC24C	0.87
342	Bladder cancer	Enrichment	PIK3CA	0.86
343	Severe covid-19	Enrichment	SEC23B	0.86
344	Differentiated thyroid carcinoma	Enrichment	PPARG	0.86
345	Lung cancer	Enrichment	PIK3CA	0.82
346	Familial hypertrophic cardiomyopathy	Enrichment	PRKAG2	0.81
347	Eye disease	Enrichment	RBP4	0.79
348	Congenital disorder of glycosylation, type in	Enrichment	SRD5A3	0.75
349	Type 2 diabetes mellitus	Enrichment	PPARG	0.71
350	Autism	Enrichment	CREBBP, SRD5A3	0.71
351	Gastric cancer	Enrichment	PIK3CA	0.71
352	Hypertrophic cardiomyopathy	Enrichment	PRKAG2	0.71
353	Body mass index quantitative trait locus 11	Enrichment	PPARG	0.65
354	Hereditary retinal dystrophy	Enrichment	LRP2	0.64
355	Fundus dystrophy	Enrichment	LRP2	0.64
356	Hypertelorism	Enrichment	PIK3CA	0.63
357	Cone dystrophy	Enrichment	SRD5A3	0.62
358	Auditory neuropathy	Enrichment	FDXR	0.59
359	Cone-rod dystrophy 2	Enrichment	ATF6	0.53
360	Bardet-biedl syndrome	Enrichment	TSPOAP1	0.42
361	Hereditary spastic paraplegia	Enrichment	CYP7B1	0.42
362	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	OSBPL2	0.35
363	Spastic ataxia	Enrichment	CYP7B1	0.34
364	Complex neurodevelopmental disorder	Enrichment	CDK8	0.33
365	Rare genetic deafness	Enrichment	HSD17B4	0.23

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

Metabolism of steroids

Pathway Network for Metabolism of steroids

Pathway network for the Metabolism of steroids SuperPath

Member Pathways for Metabolism of steroids

Pathways in the Metabolism of steroids SuperPath

Gene overlap in member pathways for Metabolism of steroids SuperPath

Associated Genes for Metabolism of steroids

Associated Disorders for Metabolism of steroids

Disorders associated with Metabolism of steroids SuperPath

STRING Interaction Network for Metabolism of steroids

Sources for Metabolism of steroids