Metabolism of water-soluble vitamins and cofactors

Pathway network for the Metabolism of water-soluble vitamins and cofactors SuperPath

Sources:

Reactome
WikiPathways
PubChem

Pathways in the Metabolism of water-soluble vitamins and cofactors SuperPath

#	Name	Source	Genes
1	Metabolism of water-soluble vitamins and cofactors	Reactome	AASDHPPT ABCC1 ABCD4 ACACA ACACB ACP5 ALDH1L1 ALDH1L2 AMN AOX1 BST1 BTD CBLIF CD320 CD38 COASY CTRB1 CTRB2 CUBN CYB5A CYB5R3 DCAKD DHFR DHFR2 ENPP1 ENPP2 ENPP3 FASN FLAD1 FOLR2 FPGS GPHN GSTO1 GSTO2 HLCS LDLRAP1 LMBRD1 LRP2 MCCC1 MCCC2 MMAA MMAB MMACHC MMADHC MMUT MOCOS MOCS1 MOCS2 MOCS3 MTHFD1 MTHFD1L MTHFD2 MTHFD2L MTHFR MTHFS MTR MTRR NADK NADK2 NADSYN1 NAMPT NAPRT NAXD NAXE NFS1 NMNAT1 NMNAT2 NMNAT3 NMRK1 NMRK2 NNMT NT5E NUDT12 NUDT8 PANK1 PANK2 PANK3 PANK4 PARP10 PARP14 PARP16 PARP4 PARP6 PARP8 PARP9 PC PCCA PCCB PDXK PDZD11 PNPO PPCDC PPCS PRSS1 PRSS3 QPRT RFK RNLS SHMT1 SHMT2 SLC19A1 SLC19A2 SLC19A3 SLC22A13 SLC23A1 SLC23A2 SLC25A16 SLC25A19 SLC25A32 SLC25A42 SLC25A51 SLC2A1 SLC2A3 SLC46A1 SLC52A1 SLC52A2 SLC52A3 SLC5A6 SLC5A8 TCN1 TCN2 THTPA TPK1 VNN1 VNN2 (see all 125) (see less)
2	Metabolism of vitamins and cofactors	Reactome	AASDHPPT ABCC1 ABCD4 ACACA ACACB ACO1 ACP5 AGRN AKR1B10 AKR1C1 AKR1C3 AKR1C4 AKT1 ALDH1L1 ALDH1L2 AMN AOX1 APOA1 APOA2 APOA4 APOB APOC2 APOC3 APOE APOM BCO1 BCO2 BST1 BTD CALM1 CALM2 CALM3 CBLIF CD320 CD38 CLPS COASY COQ2 COQ3 COQ4 COQ5 COQ6 COQ7 COQ8A COQ8B COQ9 CTRB1 CTRB2 CUBN CYB5A CYB5R3 DCAKD DHFR DHFR2 ENPP1 ENPP2 ENPP3 FASN FLAD1 FOLR2 FPGS GCH1 GCHFR GPC1 GPC2 GPC3 GPC4 GPC5 GPC6 GPHN GPIHBP1 GSTO1 GSTO2 HLCS HPDL HSP90AA1 HSPG2 IDH1 LDLR LDLRAP1 LMBRD1 LPL LRAT LRP1 LRP10 LRP12 LRP2 LRP8 MCCC1 MCCC2 MMAA MMAB MMACHC MMADHC MMUT MOCOS MOCS1 MOCS2 MOCS3 MTHFD1 MTHFD1L MTHFD2 MTHFD2L MTHFR MTHFS MTR MTRR NADK NADK2 NADSYN1 NAMPT NAPRT NAXD NAXE NFS1 NMNAT1 NMNAT2 NMNAT3 NMRK1 NMRK2 NNMT NOS3 NT5E NUDT12 NUDT8 PANK1 PANK2 PANK3 PANK4 PARP10 PARP14 PARP16 PARP4 PARP6 PARP8 PARP9 PC PCCA PCCB PDSS1 PDSS2 PDXK PDZD11 PLB1 PNLIP PNPO PPCDC PPCS PRKG2 PRSS1 PRSS3 PTS QPRT RBP1 RBP2 RBP4 RDH11 RETSAT RFK RNLS SDC1 SDC2 SDC3 SDC4 SHMT1 SHMT2 SLC19A1 SLC19A2 SLC19A3 SLC22A13 SLC23A1 SLC23A2 SLC25A16 SLC25A19 SLC25A32 SLC25A42 SLC25A51 SLC2A1 SLC2A3 SLC46A1 SLC52A1 SLC52A2 SLC52A3 SLC5A6 SLC5A8 SPR STARD7 TCN1 TCN2 THTPA TPK1 TTPA TTR UBIAD1 VKORC1 VKORC1L1 VNN1 VNN2 (see all 198) (see less)
3	Vitamin B5 (pantothenate) metabolism	Reactome	AASDHPPT COASY DCAKD ENPP1 ENPP2 ENPP3 FASN NUDT8 PANK1 PANK2 PANK3 PANK4 PDZD11 PPCDC PPCS SLC25A16 SLC25A42 SLC5A6 VNN1 VNN2 (see all 20) (see less)
4	Metabolism of folate and pterines	Reactome	ALDH1L1 ALDH1L2 DHFR DHFR2 FOLR2 FPGS MTHFD1 MTHFD1L MTHFD2 MTHFD2L MTHFR MTHFS SHMT1 SHMT2 SLC19A1 SLC25A32 SLC46A1 (see all 17) (see less)
5	Biotin transport and metabolism	Reactome	ACACA ACACB BTD HLCS MCCC1 MCCC2 PC PCCA PCCB PDZD11 SLC5A6 (see all 11) (see less)
6	Biotin metabolism, including IMDs	WikiPathways	ACACA ACACB BTD HLCS MCCC1 MCCC2 PC PCCA PCCB (see all 9) (see less)
7	ubiquinol-10 biosynthesis	PubChem	COQ2 COQ3 COQ5 COQ6 COQ7 PDSS1 PDSS2 UBIAD1 (see all 8) (see less)
8	Vitamin C (ascorbate) metabolism	Reactome	CYB5A CYB5R3 GSTO1 GSTO2 SLC23A1 SLC23A2 SLC2A1 SLC2A3 (see all 8) (see less)
9	Defects in biotin (Btn) metabolism	Reactome	ACACA BTD HLCS MCCC1 MCCC2 PC PCCA PCCB (see all 8) (see less)
10	Vitamin B2 (riboflavin) metabolism	Reactome	ACP5 ENPP1 FLAD1 RFK SLC52A1 SLC52A2 SLC52A3 (see all 7) (see less)
11	Defective HLCS causes multiple carboxylase deficiency	Reactome	ACACA HLCS MCCC1 MCCC2 PC PCCA PCCB (see all 7) (see less)
12	Coenzyme A biosynthesis	Reactome	COASY DCAKD PANK1 PANK2 PANK3 PPCDC PPCS (see all 7) (see less)
13	ubiquinol-10 biosynthesis (eukaryotic)	PubChem	COQ3 COQ5 COQ6 COQ7 PDSS1 PDSS2 UBIAD1 (see all 7) (see less)
14	Molybdenum cofactor biosynthesis	Reactome	GPHN MOCOS MOCS1 MOCS2 MOCS3 NFS1 (see all 6) (see less)
15	Vitamin B1 (thiamin) metabolism	Reactome	SLC19A2 SLC19A3 SLC25A19 THTPA TPK1
16	molybdenum cofactor biosynthesis	PubChem	GPHN MOCS2 MOCS3 NFS1
17	Vitamin B6 activation to pyridoxal phosphate	Reactome	AOX1 PDXK PNPO
18	3-Methylcrotonyl-CoA carboxylase deficiency	Reactome	MCCC1 MCCC2
19	all-trans-decaprenyl diphosphate biosynthesis	PubChem	PDSS1 PDSS2
20	thiamin salvage III	PubChem	TPK1
21	Defective BTD causes biotidinase deficiency	Reactome	BTD

Gene overlap in member pathways for Metabolism of water-soluble vitamins and cofactors SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	MCCC1	Methylcrotonyl-CoA Carboxylase Subunit 1	Protein Coding	7
2	MCCC2	Methylcrotonyl-CoA Carboxylase Subunit 2	Protein Coding	7
3	ACACA	Acetyl-CoA Carboxylase Alpha	Protein Coding	6
4	HLCS	Holocarboxylase Synthetase	Protein Coding	6
5	PC	Pyruvate Carboxylase	Protein Coding	6
6	PCCA	Propionyl-CoA Carboxylase Subunit Alpha	Protein Coding	6
7	PCCB	Propionyl-CoA Carboxylase Subunit Beta	Protein Coding	6
8	BTD	Biotinidase	Protein Coding	6
9	GPHN	Gephyrin	Protein Coding	4
10	TPK1	Thiamin Pyrophosphokinase 1	Protein Coding	4
11	MOCS3	Molybdenum Cofactor Synthesis 3	Protein Coding	4
12	ACACB	Acetyl-CoA Carboxylase Beta	Protein Coding	4
13	MOCS2	Molybdenum Cofactor Synthesis 2	Protein Coding	4
14	PDZD11	PDZ Domain Containing 11	Protein Coding	4
15	ENPP1	Ectonucleotide Pyrophosphatase/Phosphodiesterase 1	Protein Coding	4
16	PANK1	Pantothenate Kinase 1	Protein Coding	4
17	PPCDC	Phosphopantothenoylcysteine Decarboxylase	Protein Coding	4
18	PANK3	Pantothenate Kinase 3	Protein Coding	4
19	PPCS	Phosphopantothenoylcysteine Synthetase	Protein Coding	4
20	DCAKD	Dephospho-CoA Kinase Domain Containing	Protein Coding	4
21	PANK2	Pantothenate Kinase 2	Protein Coding	4
22	COASY	Coenzyme A Synthase	Protein Coding	4
23	SLC5A6	Solute Carrier Family 5 Member 6	Protein Coding	4
24	NFS1	NFS1 Cysteine Desulfurase	Protein Coding	4
25	PDSS1	Decaprenyl Diphosphate Synthase Subunit 1	Protein Coding	4
26	PDSS2	Decaprenyl Diphosphate Synthase Subunit 2	Protein Coding	4
27	SLC19A2	Solute Carrier Family 19 Member 2	Protein Coding	3
28	MTHFS	Methenyltetrahydrofolate Synthetase	Protein Coding	3
29	MTHFD2	Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent) 2, Methenyltetrahydrofolate Cyclohydrolase	Protein Coding	3
30	ALDH1L1	Aldehyde Dehydrogenase 1 Family Member L1	Protein Coding	3
31	SLC46A1	Solute Carrier Family 46 Member 1	Protein Coding	3
32	SLC52A3	Solute Carrier Family 52 Member 3	Protein Coding	3
33	GSTO2	Glutathione S-Transferase Omega 2	Protein Coding	3
34	CYB5A	Cytochrome B5 Type A	Protein Coding	3
35	ALDH1L2	Aldehyde Dehydrogenase 1 Family Member L2	Protein Coding	3
36	DHFR	Dihydrofolate Reductase	Protein Coding	3
37	CYB5R3	Cytochrome B5 Reductase 3	Protein Coding	3
38	DHFR2	Dihydrofolate Reductase 2	Protein Coding	3
39	FASN	Fatty Acid Synthase	Protein Coding	3
40	FOLR2	Folate Receptor Beta	Protein Coding	3
41	FPGS	Folylpolyglutamate Synthase	Protein Coding	3
42	NUDT8	Nudix Hydrolase 8	Protein Coding	3
43	MTHFD1L	Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent) 1 Like	Protein Coding	3
44	SLC25A42	Solute Carrier Family 25 Member 42	Protein Coding	3
45	AOX1	Aldehyde Oxidase 1	Protein Coding	3
46	MOCS1	Molybdenum Cofactor Synthesis 1	Protein Coding	3
47	MTHFD2L	Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent) 2 Like	Protein Coding	3
48	MTHFD1	Methylenetetrahydrofolate Dehydrogenase, Cyclohydrolase And Formyltetrahydrofolate Synthetase 1	Protein Coding	3
49	MTHFR	Methylenetetrahydrofolate Reductase	Protein Coding	3
50	ENPP2	Ectonucleotide Pyrophosphatase/Phosphodiesterase 2	Protein Coding	3
51	ENPP3	Ectonucleotide Pyrophosphatase/Phosphodiesterase 3	Protein Coding	3
52	ACP5	Acid Phosphatase 5, Tartrate Resistant	Protein Coding	3
53	MOCOS	Molybdenum Cofactor Sulfurase	Protein Coding	3
54	SLC52A1	Solute Carrier Family 52 Member 1	Protein Coding	3
55	PNPO	Pyridoxamine 5''-Phosphate Oxidase	Protein Coding	3
56	PANK4	Pantothenate Kinase 4 (Inactive)	Protein Coding	3
57	RFK	Riboflavin Kinase	Protein Coding	3
58	SLC25A19	Solute Carrier Family 25 Member 19	Protein Coding	3
59	AASDHPPT	Aminoadipate-Semialdehyde Dehydrogenase-Phosphopantetheinyl Transferase	Protein Coding	3
60	SHMT1	Serine Hydroxymethyltransferase 1	Protein Coding	3
61	SHMT2	Serine Hydroxymethyltransferase 2	Protein Coding	3
62	SLC2A1	Solute Carrier Family 2 Member 1	Protein Coding	3
63	SLC2A3	Solute Carrier Family 2 Member 3	Protein Coding	3
64	SLC19A1	Solute Carrier Family 19 Member 1	Protein Coding	3
65	THTPA	Thiamine Triphosphatase	Protein Coding	3
66	SLC52A2	Solute Carrier Family 52 Member 2	Protein Coding	3
67	FLAD1	Flavin Adenine Dinucleotide Synthetase 1	Protein Coding	3
68	SLC25A16	Solute Carrier Family 25 Member 16	Protein Coding	3
69	SLC19A3	Solute Carrier Family 19 Member 3	Protein Coding	3
70	SLC25A32	Solute Carrier Family 25 Member 32	Protein Coding	3
71	PDXK	Pyridoxal Kinase	Protein Coding	3
72	VNN2	Vanin 2	Protein Coding	3
73	VNN1	Vanin 1	Protein Coding	3
74	GSTO1	Glutathione S-Transferase Omega 1	Protein Coding	3
75	SLC23A2	Solute Carrier Family 23 Member 2	Protein Coding	3
76	SLC23A1	Solute Carrier Family 23 Member 1	Protein Coding	3
77	COQ7	Coenzyme Q7, Hydroxylase	Protein Coding	3
78	UBIAD1	UbiA Prenyltransferase Domain Containing 1	Protein Coding	3
79	COQ6	Coenzyme Q6, Monooxygenase	Protein Coding	3
80	COQ3	Coenzyme Q3, Methyltransferase	Protein Coding	3
81	COQ5	Coenzyme Q5, Methyltransferase	Protein Coding	3
82	NAMPT	Nicotinamide Phosphoribosyltransferase	Protein Coding	2
83	NAXE	NAD(P)HX Epimerase	Protein Coding	2
84	NADK2	NAD Kinase 2, Mitochondrial	Protein Coding	2
85	PARP4	Poly(ADP-Ribose) Polymerase Family Member 4	Protein Coding	2
86	CTRB1	Chymotrypsinogen B1	Protein Coding	2
87	SLC5A8	Solute Carrier Family 5 Member 8	Protein Coding	2
88	MMAA	Metabolism Of Cobalamin Associated A	Protein Coding	2
89	NMNAT2	Nicotinamide Nucleotide Adenylyltransferase 2	Protein Coding	2
90	QPRT	Quinolinate Phosphoribosyltransferase	Protein Coding	2
91	MMACHC	Metabolism Of Cobalamin Associated C	Protein Coding	2
92	LDLRAP1	Low Density Lipoprotein Receptor Adaptor Protein 1	Protein Coding	2
93	CBLIF	Cobalamin Binding Intrinsic Factor	Protein Coding	2
94	NMRK2	Nicotinamide Riboside Kinase 2	Protein Coding	2
95	MMADHC	Metabolism Of Cobalamin Associated D	Protein Coding	2
96	MMAB	Metabolism Of Cobalamin Associated B	Protein Coding	2
97	NMNAT3	Nicotinamide Nucleotide Adenylyltransferase 3	Protein Coding	2
98	LRP2	LDL Receptor Related Protein 2	Protein Coding	2
99	ABCC1	ATP Binding Cassette Subfamily C Member 1 (ABCC1 Blood Group)	Protein Coding	2
100	CTRB2	Chymotrypsinogen B2	Protein Coding	2
101	MTR	5-Methyltetrahydrofolate-Homocysteine Methyltransferase	Protein Coding	2
102	MTRR	5-Methyltetrahydrofolate-Homocysteine Methyltransferase Reductase	Protein Coding	2
103	MMUT	Methylmalonyl-CoA Mutase	Protein Coding	2
104	NNMT	Nicotinamide N-Methyltransferase	Protein Coding	2
105	NT5E	5''-Nucleotidase Ecto	Protein Coding	2
106	CD320	CD320 Molecule	Protein Coding	2
107	PARP14	Poly(ADP-Ribose) Polymerase Family Member 14	Protein Coding	2
108	PARP16	Poly(ADP-Ribose) Polymerase Family Member 16	Protein Coding	2
109	NMRK1	Nicotinamide Riboside Kinase 1	Protein Coding	2
110	NADSYN1	NAD Synthetase 1	Protein Coding	2
111	RNLS	Renalase, FAD Dependent Amine Oxidase	Protein Coding	2
112	NAXD	NAD(P)HX Dehydratase	Protein Coding	2
113	LMBRD1	LMBR1 Domain Containing 1	Protein Coding	2
114	PRSS1	Serine Protease 1	Protein Coding	2
115	PRSS3	Serine Protease 3	Protein Coding	2
116	PARP6	Poly(ADP-Ribose) Polymerase Family Member 6	Protein Coding	2
117	ABCD4	ATP Binding Cassette Subfamily D Member 4	Protein Coding	2
118	NMNAT1	Nicotinamide Nucleotide Adenylyltransferase 1	Protein Coding	2
119	NADK	NAD Kinase	Protein Coding	2
120	BST1	Bone Marrow Stromal Cell Antigen 1	Protein Coding	2
121	TCN1	Transcobalamin 1	Protein Coding	2
122	TCN2	Transcobalamin 2	Protein Coding	2
123	PARP8	Poly(ADP-Ribose) Polymerase Family Member 8	Protein Coding	2
124	CUBN	Cubilin	Protein Coding	2
125	AMN	Amnion Associated Transmembrane Protein	Protein Coding	2
126	NUDT12	Nudix Hydrolase 12	Protein Coding	2
127	PARP9	Poly(ADP-Ribose) Polymerase Family Member 9	Protein Coding	2
128	PARP10	Poly(ADP-Ribose) Polymerase Family Member 10	Protein Coding	2
129	SLC25A51	Solute Carrier Family 25 Member 51	Protein Coding	2
130	NAPRT	Nicotinate Phosphoribosyltransferase	Protein Coding	2
131	SLC22A13	Solute Carrier Family 22 Member 13	Protein Coding	2
132	CD38	CD38 Molecule	Protein Coding	2
133	COQ2	Coenzyme Q2, Polyprenyltransferase	Protein Coding	2
134	GPC6	Glypican 6	Protein Coding	1
135	AKR1C4	Aldo-Keto Reductase Family 1 Member C4	Protein Coding	1
136	CLPS	Colipase	Protein Coding	1
137	PLB1	Phospholipase B1	Protein Coding	1
138	VKORC1L1	Vitamin K Epoxide Reductase Complex Subunit 1L1	Protein Coding	1
139	AKR1C1	Aldo-Keto Reductase Family 1 Member C1	Protein Coding	1
140	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	1
141	GPC2	Glypican 2	Protein Coding	1
142	GPC4	Glypican 4	Protein Coding	1
143	GPC5	Glypican 5	Protein Coding	1
144	LRP10	LDL Receptor Related Protein 10	Protein Coding	1
145	GCH1	GTP Cyclohydrolase 1	Protein Coding	1
146	GCHFR	GTP Cyclohydrolase I Feedback Regulator	Protein Coding	1
147	GPC3	Glypican 3	Protein Coding	1
148	GPC1	Glypican 1	Protein Coding	1
149	LRP12	LDL Receptor Related Protein 12	Protein Coding	1
150	HSP90AA1	Heat Shock Protein 90 Alpha Family Class A Member 1	Protein Coding	1
151	HSPG2	Heparan Sulfate Proteoglycan 2	Protein Coding	1
152	APOA1	Apolipoprotein A1	Protein Coding	1
153	APOA2	Apolipoprotein A2	Protein Coding	1
154	APOA4	Apolipoprotein A4	Protein Coding	1
155	APOB	Apolipoprotein B	Protein Coding	1
156	GPIHBP1	Glycosylphosphatidylinositol Anchored High Density Lipoprotein Binding Protein 1	Protein Coding	1
157	IDH1	Isocitrate Dehydrogenase (NADP(+)) 1	Protein Coding	1
158	APOC2	Apolipoprotein C2	Protein Coding	1
159	APOC3	Apolipoprotein C3	Protein Coding	1
160	APOE	Apolipoprotein E	Protein Coding	1
161	AGRN	Agrin	Protein Coding	1
162	LDLR	Low Density Lipoprotein Receptor	Protein Coding	1
163	LPL	Lipoprotein Lipase	Protein Coding	1
164	LRP1	LDL Receptor Related Protein 1	Protein Coding	1
165	ACO1	Aconitase 1	Protein Coding	1
166	NOS3	Nitric Oxide Synthase 3	Protein Coding	1
167	RDH11	Retinol Dehydrogenase 11	Protein Coding	1
168	COQ4	Coenzyme Q4	Protein Coding	1
169	BCO1	Beta-Carotene Oxygenase 1	Protein Coding	1
170	PNLIP	Pancreatic Lipase	Protein Coding	1
171	RETSAT	Retinol Saturase	Protein Coding	1
172	PRKG2	Protein Kinase CGMP-Dependent 2	Protein Coding	1
173	APOM	Apolipoprotein M	Protein Coding	1
174	STARD7	StAR Related Lipid Transfer Domain Containing 7	Protein Coding	1
175	COQ8A	Coenzyme Q8A	Protein Coding	1
176	AKR1B10	Aldo-Keto Reductase Family 1 Member B10	Protein Coding	1
177	COQ9	Coenzyme Q9	Protein Coding	1
178	PTS	6-Pyruvoyltetrahydropterin Synthase	Protein Coding	1
179	RBP1	Retinol Binding Protein 1	Protein Coding	1
180	RBP2	Retinol Binding Protein 2	Protein Coding	1
181	RBP4	Retinol Binding Protein 4	Protein Coding	1
182	SDC1	Syndecan 1	Protein Coding	1
183	SDC2	Syndecan 2	Protein Coding	1
184	SDC4	Syndecan 4	Protein Coding	1
185	SPR	Sepiapterin Reductase	Protein Coding	1
186	TTPA	Alpha Tocopherol Transfer Protein	Protein Coding	1
187	TTR	Transthyretin	Protein Coding	1
188	LRP8	LDL Receptor Related Protein 8	Protein Coding	1
189	VKORC1	Vitamin K Epoxide Reductase Complex Subunit 1	Protein Coding	1
190	COQ8B	Coenzyme Q8B	Protein Coding	1
191	CALM1	Calmodulin 1	Protein Coding	1
192	CALM2	Calmodulin 2	Protein Coding	1
193	CALM3	Calmodulin 3	Protein Coding	1
194	BCO2	Beta-Carotene Oxygenase 2	Protein Coding	1
195	HPDL	4-Hydroxyphenylpyruvate Dioxygenase Like	Protein Coding	1
196	AKR1C3	Aldo-Keto Reductase Family 1 Member C3	Protein Coding	1
197	LRAT	Lecithin Retinol Acyltransferase	Protein Coding	1
198	SDC3	Syndecan 3	Protein Coding	1

Disorders associated with Metabolism of water-soluble vitamins and cofactors SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Vitamin metabolic disorder	Direct
2	3-methylcrotonyl-coa carboxylase deficiency	Direct
3	3-methylcrotonyl-coa carboxylase 1 deficiency	Direct
4	3-methylcrotonyl-coa carboxylase 2 deficiency	Direct
5	Neural tube defects, folate-sensitive	Enrichment	MTHFD1, MTHFR, MTR, MTRR	8.16
6	Molybdenum cofactor deficiency	Enrichment	MOCS1, MOCS2	6.79
7	Brown-vialetto-van laere syndrome 1	Enrichment	SLC52A2, SLC52A3	6.64
8	Hereditary methemoglobinemia	Enrichment	CYB5A, CYB5R3	6.52
9	Methylmalonic aciduria and homocystinuria, cblc type	Enrichment	ABCD4, LMBRD1, MMACHC, MMADHC	6.33
10	Methylmalonic acidemia	Enrichment	MMAA, MMAB, MMACHC, MMUT	6.33
11	Molybdenum cofactor deficiency, type a	Enrichment	MOCS1, MOCS2	6.31
12	Familial hypercholesterolemia	Enrichment	APOA2, APOB, APOE, LDLR, LDLRAP1	5.77
13	Propionic acidemia	Enrichment	PCCA, PCCB	5.63
14	Isolated methylmalonic acidemia	Enrichment	MMAA, MMAB, MMUT	4.58
15	Hyperlipidemia, familial combined, 3	Enrichment	APOB, LDLR, LPL	4.52
16	Thiamine metabolism dysfunction syndrome 5	Enrichment	TPK1	4.13
17	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	Enrichment	TPK1	4.13
18	Disorders of intracellular cobalamin metabolism	Enrichment	MMACHC, MTR	4.07
19	Coenzyme q10 deficiency, primary, 2	Enrichment	PDSS1	3.83
20	Coenzyme q10 deficiency, primary, 3	Enrichment	PDSS2	3.83
21	Catecholaminergic polymorphic ventricular tachycardia	Enrichment	CALM1, CALM2, CALM3	3.79
22	Homozygous familial hypercholesterolemia	Enrichment	APOB, LDLR, LDLRAP1	3.79
23	Hyperlipoproteinemia, type i	Enrichment	GPIHBP1, LPL	3.67
24	Retinal dystrophy, juvenile cataracts, and short stature syndrome	Enrichment	GPHN, RDH11	3.67
25	Hyperlipoproteinemia, type iii	Enrichment	APOE, LDLR	3.67
26	Familial lipoprotein lipase deficiency	Enrichment	GPIHBP1, LPL	3.67
27	Pyridoxamine 5-prime-phosphate oxidase deficiency	Enrichment	PNPO	3.66
28	Neuropathy, hereditary motor and sensory, type vic, with optic atrophy	Enrichment	PDXK	3.66
29	Homocystinuria-megaloblastic anemia, cblg type	Enrichment	MTR, MTRR	3.60
30	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	Enrichment	MMACHC, MMUT	3.60
31	Homocystinuria	Enrichment	MMACHC, MTR	3.60
32	Nephrotic syndrome	Enrichment	COQ2, PDSS2	3.57
33	Combined oxidative phosphorylation deficiency 52	Enrichment	NFS1	3.53
34	Molybdenum cofactor deficiency, type b2	Enrichment	MOCS3	3.53
35	Basal ganglia disease, biotin-thiamine responsive	Enrichment	SLC19A3	3.43
36	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	Enrichment	SLC19A3	3.43
37	Methylmalonic aciduria and homocystinuria, cbld type	Enrichment	MMACHC, MMADHC	3.30
38	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	Enrichment	FLAD1	3.29
39	Spondyloenchondrodysplasia with immune dysregulation	Enrichment	ACP5	3.29
40	Fazio-londe disease	Enrichment	SLC52A3	3.29
41	Arterial calcification, generalized, of infancy, 1	Enrichment	ENPP1	3.29
42	Ossification of the posterior longitudinal ligament of spine	Enrichment	ENPP1	3.29
43	Hypophosphatemic rickets, autosomal recessive, 2	Enrichment	ENPP1	3.29
44	Riboflavin deficiency	Enrichment	SLC52A1	3.29
45	Cole disease	Enrichment	ENPP1	3.29
46	Madras motor neuron disease	Enrichment	SLC52A3	3.29
47	Maternal riboflavin deficiency	Enrichment	SLC52A1	3.29
48	Hypopigmentation-punctate palmoplantar keratoderma syndrome	Enrichment	ENPP1	3.29
49	Neurodegeneration with brain iron accumulation 6	Enrichment	COASY	3.29
50	Pontocerebellar hypoplasia, type 12	Enrichment	COASY	3.29
51	Muscular lipidosis	Enrichment	COASY	3.29
52	Schnyder corneal dystrophy	Enrichment	UBIAD1	3.29
53	Coenzyme q10 deficiency, primary, 9	Enrichment	COQ5	3.29
54	Hyperekplexia 1	Enrichment	GPHN	3.23
55	Molybdenum cofactor deficiency, type b1	Enrichment	MOCS2	3.23
56	Molybdenum cofactor deficiency, type c	Enrichment	GPHN	3.23
57	Multiple system atrophy, parkinsonian type	Enrichment	COQ2	3.23
58	Stomatin-deficient cryohydrocytosis with neurologic defects	Enrichment	SLC2A1	3.23
59	Epilepsy, idiopathic generalized 12	Enrichment	SLC2A1	3.23
60	Epilepsy with myoclonic absences	Enrichment	SLC2A1	3.23
61	Hereditary cryohydrocytosis with reduced stomatin	Enrichment	SLC2A1	3.23
62	Hypercholesterolemia, familial, 2	Enrichment	APOB, LDLR	3.20
63	Hyperphenylalaninemia, bh4-deficient, b	Enrichment	GCH1, PTS	3.20
64	Simpson-golabi-behmel syndrome, type 1	Enrichment	GPC3, GPC4	3.20
65	Hypercholesterolemia, familial, 4	Enrichment	LDLR, LDLRAP1	3.20
66	Coenzyme q10 deficiency, primary, 1	Enrichment	COQ2, COQ8A	3.20
67	Coenzyme q10 deficiency, primary, 5	Enrichment	COQ7, COQ9	3.20
68	Holocarboxylase synthetase deficiency	Enrichment	HLCS	3.18
69	Biotinidase deficiency	Enrichment	BTD	3.18
70	Acetyl-coa carboxylase-alpha deficiency	Enrichment	ACACA	3.18
71	Biotin deficiency	Enrichment	BTD	3.18
72	Marsili syndrome	Enrichment	THTPA	3.13
73	Thiamine-responsive megaloblastic anemia syndrome	Enrichment	SLC19A2	3.13
74	Microcephaly, amish type	Enrichment	SLC25A19	3.13
75	Thiamine metabolism dysfunction syndrome 4	Enrichment	SLC25A19	3.13
76	Hypercholesterolemia, familial, 1	Enrichment	APOA2, APOB, LDLR	3.10
77	Peripheral motor neuropathy, childhood-onset, biotin-responsive	Enrichment	SLC5A6	3.09
78	Sodium-dependent multivitamin transporter deficiency	Enrichment	SLC5A6	3.09
79	Multiple acyl-coa dehydrogenase deficiency, mild type	Enrichment	FLAD1, SLC25A32	3.08
80	Leber congenital amaurosis 13	Enrichment	GPHN	3.05
81	Glycosylphosphatidylinositol biosynthesis defect 17	Enrichment	GPHN	3.05
82	Combined oxidative phosphorylation deficiency 19	Enrichment	NFS1	3.05
83	Arachnoid cyst	Enrichment	GPHN	3.05
84	Autosomal recessive hypophosphatemic rickets	Enrichment	ENPP1	2.99
85	Dystonia 28, childhood-onset	Enrichment	ENPP1	2.99
86	Arterial calcification of infancy	Enrichment	ENPP1	2.99
87	Cardiomyopathy, dilated, 2c	Enrichment	PPCS	2.99
88	Coenzyme q10 deficiency, primary, 6	Enrichment	COQ6	2.99
89	Neuronopathy, distal hereditary motor, autosomal dominant 5	Enrichment	PNPO	2.96
90	Macular dystrophy with or without cone dysfunction	Enrichment	GPHN	2.93
91	Multiple system atrophy 1	Enrichment	COQ2	2.93
92	Multiple system atrophy	Enrichment	COQ2	2.93
93	Multiple system atrophy, cerebellar type	Enrichment	COQ2	2.93
94	Methemoglobinemia and ambiguous genitalia	Enrichment	CYB5A	2.93
95	Dystonia 9	Enrichment	SLC2A1	2.93
96	Glut1 deficiency syndrome 1	Enrichment	SLC2A1	2.93
97	Methemoglobinemia due to deficiency of methemoglobin reductase	Enrichment	CYB5R3	2.93
98	Glucose transporter type 1 deficiency syndrome	Enrichment	SLC2A1	2.93
99	Megaloblastic anemia	Enrichment	AMN, CUBN	2.91
100	Coronary artery anomaly	Enrichment	APOC3, LPL	2.90
101	Exercise intolerance, riboflavin-responsive	Enrichment	SLC25A32	2.90
102	Homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity	Enrichment	MTHFR	2.90
103	Megaloblastic anemia, folate-responsive	Enrichment	SLC19A1	2.90
104	Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities	Enrichment	SHMT2	2.90
105	Megaloblastic anemia due to dihydrofolate reductase deficiency	Enrichment	DHFR	2.90
106	Immunodeficiency 114, folate-responsive	Enrichment	SLC19A1	2.90
107	Xanthinuria, type ii	Enrichment	MOCOS	2.88
108	Hyperekplexia	Enrichment	GPHN	2.83
109	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression	Enrichment	SLC25A42	2.83
110	Cataract 49	Enrichment	PANK4	2.83
111	Brown-vialetto-van laere syndrome 2	Enrichment	SLC52A2	2.81
112	Neuronopathy, distal hereditary motor, autosomal recessive 9	Enrichment	COQ7	2.81
113	Coenzyme q10 deficiency, primary, 8	Enrichment	COQ7	2.81
114	Imerslund-grasbeck syndrome 1	Enrichment	AMN, CUBN	2.77
115	Anxiety	Enrichment	GPHN	2.75
116	Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency	Enrichment	CYB5A	2.75
117	Glut1 deficiency syndrome 2	Enrichment	SLC2A1	2.75
118	Chromosome 17q23.1-q23.2 deletion syndrome	Enrichment	SLC2A1	2.75
119	Pyruvate carboxylase deficiency	Enrichment	PC	2.70
120	Spinal muscular atrophy, type iv	Enrichment	MCCC2	2.70
121	Alzheimer disease 2	Enrichment	APOE, NOS3	2.69
122	Multiple acyl-coa dehydrogenase deficiency	Enrichment	FLAD1	2.69
123	Neurodegeneration with brain iron accumulation 1	Enrichment	PANK2	2.69
124	Full schwannomatosis	Enrichment	COQ6	2.69
125	Congenital myopathy 1a, autosomal dominant, with malignant hyperthermia	Enrichment	CYB5R3	2.63
126	Huntington disease	Enrichment	SLC2A3	2.63
127	Congenital myopathy 1a	Enrichment	CYB5R3	2.63
128	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	Enrichment	MTHFD1	2.60
129	Glaucoma, primary closed-angle	Enrichment	SLC19A1	2.60
130	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination	Enrichment	MTHFS	2.60
131	Isolated anencephaly	Enrichment	MTHFR	2.60
132	Isolated exencephaly	Enrichment	MTHFR	2.60
133	Multiple acyl-coa dehydrogenase deficiency, severe neonatal type	Enrichment	FLAD1	2.59
134	Rubinstein-taybi syndrome 2	Enrichment	PANK2	2.59
135	Nonsyndromic congenital nail disorder	Enrichment	SLC25A16	2.53
136	Isolated nail anomaly	Enrichment	SLC25A16	2.53
137	Hyperphenylalaninemia, bh4-deficient, a	Enrichment	GCH1, PTS	2.51
138	Lipid metabolism disorder	Enrichment	APOE, LDLR	2.51
139	Pseudoxanthoma elasticum	Enrichment	ENPP1	2.51
140	Pontocerebellar hypoplasia, type 2d	Enrichment	PCCA	2.48
141	Hypophosphatemic rickets	Enrichment	ENPP1	2.44
142	Folate malabsorption, hereditary	Enrichment	SLC46A1	2.43
143	Familial adenomatous polyposis 4	Enrichment	DHFR	2.43
144	Paroxysmal dystonia	Enrichment	SLC2A1	2.38
145	Thrombophilia due to thrombin defect	Enrichment	MTHFR, VKORC1	2.37
146	Alternating hemiplegia of childhood	Enrichment	SLC2A1	2.33
147	Knobloch syndrome	Enrichment	SLC19A1	2.30
148	Leigh syndrome, nuclear	Enrichment	TPK1	2.29
149	Neurodegeneration with brain iron accumulation	Enrichment	COASY	2.29
150	Myoclonic-atonic epilepsy	Enrichment	SLC2A1	2.28
151	Leigh disease	Enrichment	TPK1	2.25
152	Knobloch syndrome 1	Enrichment	SLC19A1	2.20
153	Coronary heart disease 5	Enrichment	APOB, LDLR	2.15
154	Ear malformation	Enrichment	SLC19A2	2.05
155	Stargardt disease 1	Enrichment	GPHN	2.05
156	Calcification of joints and arteries	Enrichment	NT5E	2.04
157	Transcobalamin i deficiency	Enrichment	TCN1	2.04
158	Methylmalonic aciduria and homocystinuria, cblf type	Enrichment	LMBRD1	2.04
159	2,4-dienoyl-coa reductase deficiency	Enrichment	NADK2	2.04
160	Donnai-barrow syndrome	Enrichment	LRP2	2.04
161	Methylmalonic aciduria, cbla type	Enrichment	MMAA	2.04
162	Deafness, autosomal dominant 77	Enrichment	ABCC1	2.04
163	Homocystinuria-megaloblastic anemia, cbld type	Enrichment	MMADHC	2.04
164	Vitamin b12 deficiency	Enrichment	AMN	2.04
165	Intrinsic factor deficiency	Enrichment	CBLIF	2.04
166	Congenital intrinsic factor deficiency	Enrichment	CBLIF	2.04
167	Methylmalonic aciduria and homocystinuria, cblj type	Enrichment	ABCD4	2.04
168	Methylmalonic aciduria, transient, due to transcobalamin receptor defect	Enrichment	CD320	2.04
169	Vertebral, cardiac, renal, and limb defects syndrome 3	Enrichment	NADSYN1	2.04
170	Methylmalonic acidemia due to transcobalamin receptor defect	Enrichment	CD320	2.04
171	Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis	Enrichment	NMNAT1	2.04
172	Prolactin-producing pituitary gland adenoma	Enrichment	LRP2	2.04
173	Methylmalonic aciduria, cbld type	Enrichment	MMADHC	2.04
174	Vitamin b12-responsive methylmalonic acidemia	Enrichment	MMAA	2.04
175	Homocystinuria without methylmalonic aciduria	Enrichment	MTRR	2.04
176	Methylmalonic aciduria and homocystinuria	Enrichment	MMACHC	2.04
177	Long qt syndrome 1	Enrichment	CALM1, CALM2, CALM3	2.03
178	Hereditary retinal dystrophy	Enrichment	GPHN, LRAT, LRP2, MMACHC, NMNAT1, PANK2, RBP4, RDH11, SLC19A1, TTPA	1.99
179	Fundus dystrophy	Enrichment	GPHN, LRAT, LRP2, MMACHC, NMNAT1, PANK2, RBP4, RDH11, SLC19A1, TTPA	1.99
180	Eye disease	Enrichment	GPHN	1.99
181	Cerebral palsy	Enrichment	GPHN	1.94
182	Early-onset posterior polar cataract	Enrichment	PANK4	1.93
183	Focal segmental glomerulosclerosis	Enrichment	COQ2	1.93
184	Auditory neuropathy	Enrichment	SLC52A2	1.87
185	Dystonia	Enrichment	GCH1, PANK2, SPR	1.85
186	Carpal tunnel syndrome 1	Enrichment	TTR	1.84
187	Hypercarotenemia and vitamin a deficiency, autosomal dominant	Enrichment	BCO1	1.84
188	Proteus syndrome	Enrichment	AKT1	1.84
189	Hyperthyroxinemia, dystransthyretinemic	Enrichment	TTR	1.84
190	Atrophoderma vermiculata	Enrichment	LRP1	1.84
191	Sea-blue histiocyte disease	Enrichment	APOE	1.84
192	Ataxia with vitamin e deficiency	Enrichment	TTPA	1.84
193	Epilepsy, familial adult myoclonic, 2	Enrichment	STARD7	1.84
194	Vitamin k-dependent clotting factors, combined deficiency of, 2	Enrichment	VKORC1	1.84
195	Lipoprotein glomerulopathy	Enrichment	APOE	1.84
196	Amyloidosis, hereditary systemic 1	Enrichment	TTR	1.84
197	Hyperlipoproteinemia, type id	Enrichment	GPIHBP1	1.84
198	Keratosis pilaris atrophicans	Enrichment	LRP1	1.84
199	Microphthalmia/coloboma 10	Enrichment	RBP4	1.84
200	Coenzyme q10 deficiency, primary, 4	Enrichment	COQ8A	1.84
201	Spondylometaphyseal dysplasia, pagnamenta type	Enrichment	PRKG2	1.84
202	Keipert syndrome	Enrichment	GPC4	1.84
203	Tubulointerstitial kidney disease, autosomal dominant 6	Enrichment	APOA4	1.84
204	Nephrotic syndrome, type 9	Enrichment	COQ8B	1.84
205	Apolipoprotein c-iii deficiency	Enrichment	APOC3	1.84
206	Pancreatic lipase deficiency	Enrichment	PNLIP	1.84
207	Metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria	Enrichment	IDH1	1.84
208	Long qt syndrome 16	Enrichment	CALM3	1.84
209	Cowden syndrome 6	Enrichment	AKT1	1.84
210	Long qt syndrome 15	Enrichment	CALM2	1.84
211	Amyloidosis	Enrichment	TTR	1.84
212	Pancreatic triacylglycerol lipase deficiency	Enrichment	PNLIP	1.84
213	Congenital vitamin k-dependent coagulation factors deficiency	Enrichment	VKORC1	1.84
214	Hereditary hypercarotenemia and vitamin a deficiency	Enrichment	BCO1	1.84
215	Hereditary amyloidosis	Enrichment	TTR	1.84
216	Attrv30m amyloidosis	Enrichment	TTR	1.84
217	Aapoaii amyloidosis	Enrichment	APOA2	1.84
218	Attrv122i amyloidosis	Enrichment	TTR	1.84
219	Developmental and epileptic encephalopathy 1	Enrichment	SLC2A1	1.83
220	Strabismus	Enrichment	SLC2A1	1.80
221	Mitochondrial myopathy	Enrichment	SLC25A42	1.79
222	Neural tube defects	Enrichment	MTHFR	1.79
223	Cataract	Enrichment	SLC19A1	1.76
224	Sensorineural hearing loss	Enrichment	SLC19A2	1.76
225	Methylmalonic aciduria, cblb type	Enrichment	MMAB	1.74
226	Transcobalamin ii deficiency	Enrichment	TCN2	1.74
227	Leber congenital amaurosis 9	Enrichment	NMNAT1	1.74
228	Homocystinuria-megaloblastic anemia, cble type	Enrichment	MTRR	1.74
229	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2	Enrichment	NAXD	1.74
230	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	Enrichment	NAXE	1.74
231	Trypsinogen deficiency	Enrichment	PRSS1	1.74
232	Nad hx dehydratase deficiency	Enrichment	NAXD	1.74
233	Non-syndromic syndactyly	Enrichment	LRP2	1.74
234	Cone-rod dystrophy 2	Enrichment	GPHN	1.70
235	Type 2 diabetes mellitus	Enrichment	ENPP1	1.67
236	Epilepsy	Enrichment	SLC2A1	1.63
237	Benign epilepsy with centrotemporal spikes	Enrichment	SLC2A1	1.62
238	Alzheimer disease, familial, 1	Enrichment	APOE, NOS3	1.60
239	Centralopathic epilepsy	Enrichment	SLC2A1	1.60
240	Body mass index quantitative trait locus 11	Enrichment	ENPP1	1.59
241	West syndrome	Enrichment	SLC2A1	1.59
242	Endometrial cancer	Enrichment	DHFR	1.58
243	Familial isolated dilated cardiomyopathy	Enrichment	PPCS	1.57
244	Proteinuria, chronic benign	Enrichment	CUBN	1.56
245	Leber plus disease	Enrichment	GPHN	1.56
246	Apolipoprotein c-ii deficiency	Enrichment	APOC2	1.54
247	Omodysplasia 1	Enrichment	GPC6	1.54
248	Alzheimer disease 3	Enrichment	APOE	1.54
249	Ventricular tachycardia, catecholaminergic polymorphic, 4	Enrichment	CALM1	1.54
250	Mononeuropathy of the median nerve, mild	Enrichment	TTR	1.54
251	Lipase deficiency, combined	Enrichment	LPL	1.54
252	Schwartz-jampel syndrome, type 1	Enrichment	HSPG2	1.54
253	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome	Enrichment	RBP4	1.54
254	Long qt syndrome 14	Enrichment	CALM1	1.54
255	Hypobetalipoproteinemia, familial, 1	Enrichment	APOB	1.54
256	Amyotrophic lateral sclerosis 28	Enrichment	LRP12	1.54
257	Developmental dysplasia of the hip 3	Enrichment	LRP1	1.54
258	Spastic ataxia 10, autosomal recessive	Enrichment	COQ4	1.54
259	Acromesomelic dysplasia 4	Enrichment	PRKG2	1.54
260	Familial apolipoprotein c-ii deficiency	Enrichment	APOC2	1.54
261	Hereditary combined deficiency of vitamin k-dependent clotting factors	Enrichment	VKORC1	1.54
262	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	Enrichment	SPR	1.54
263	Hypobetalipoproteinemia	Enrichment	APOB	1.54
264	Leber congenital amaurosis 14	Enrichment	LRAT	1.54
265	Hypoalphalipoproteinemia, primary, 2, intermediate	Enrichment	APOA1	1.54
266	Spastic paraplegia 83, autosomal recessive	Enrichment	HPDL	1.54
267	Amyloidosis, hereditary systemic 3	Enrichment	APOA1	1.54
268	Progressive retinal dystrophy due to retinol transport defect	Enrichment	RBP4	1.54
269	Retinitis pigmentosa 91	Enrichment	MMACHC	1.44
270	Down syndrome	Enrichment	MTRR	1.44
271	Imerslund-grasbeck syndrome 2	Enrichment	AMN	1.44
272	Prolactinoma	Enrichment	LRP2	1.44
273	Congenital nad deficiency disorder	Enrichment	NADSYN1	1.44
274	Lung cancer	Enrichment	SLC19A1	1.40
275	Severe combined immunodeficiency	Enrichment	MTHFD1	1.39
276	Hyperalphalipoproteinemia 1	Enrichment	APOC3	1.36
277	Dystonia, dopa-responsive	Enrichment	GCH1	1.36
278	Dyssegmental dysplasia, silverman-handmaker type	Enrichment	HSPG2	1.36
279	Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia	Enrichment	LDLR	1.36
280	Alzheimer disease 4	Enrichment	APOE	1.36
281	Coumarin resistance	Enrichment	VKORC1	1.36
282	46,xy sex reversal 8	Enrichment	AKR1C4	1.36
283	Hypoalphalipoproteinemia, primary, 2	Enrichment	APOA1	1.36
284	Keratosis follicularis spinulosa decalvans	Enrichment	LRP1	1.36
285	Coenzyme q10 deficiency, primary, 7	Enrichment	COQ4	1.36
286	Syndromic x-linked intellectual disability najm type	Enrichment	LDLR	1.36
287	Spastic paraplegia 50, autosomal recessive	Enrichment	APOA1	1.36
288	Gtp cyclohydrolase 1-deficient dopa-responsive dystonia	Enrichment	GCH1	1.36
289	Enchondromatosis	Enrichment	IDH1	1.36
290	Hyperphenylalaninemia due to tetrahydrobiopterin deficiency	Enrichment	PTS	1.36
291	Vitamin d-dependent rickets, type 2a	Enrichment	PRSS1	1.34
292	Liver failure, infantile, transient	Enrichment	MMUT	1.34
293	Autism spectrum disorder	Enrichment	MOCOS	1.33
294	Pancytopenia	Enrichment	TCN2	1.27
295	Diarrhea	Enrichment	NMNAT1	1.27
296	Macular degeneration, age-related, 1	Enrichment	APOE	1.24
297	Hypoalphalipoproteinemia, primary, 1	Enrichment	APOA1	1.24
298	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	Enrichment	HPDL	1.24
299	Retinitis pigmentosa	Enrichment	GPHN	1.21
300	Microcephaly	Enrichment	SLC2A1	1.15
301	Enchondromatosis, multiple, ollier type	Enrichment	IDH1	1.15
302	Amyloidosis, hereditary systemic 2	Enrichment	APOA1	1.15
303	Paroxysmal extreme pain disorder	Enrichment	IDH1	1.15
304	Myasthenic syndrome, congenital, 8	Enrichment	AGRN	1.15
305	Pre-eclampsia	Enrichment	NOS3	1.15
306	Sleep disorder	Enrichment	GCH1	1.15
307	Schizophrenia	Enrichment	MTHFR	1.15
308	Long qt syndrome	Enrichment	CALM1, CALM2	1.13
309	Developmental dysplasia of the hip 1	Enrichment	AKR1C1	1.07
310	Cowden syndrome 1	Enrichment	LDLR	1.07
311	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	Enrichment	CALM1	1.07
312	Breast adenocarcinoma	Enrichment	AKT1	1.07
313	Oculopharyngodistal myopathy 1	Enrichment	LRP12	1.01
314	Multiple enchondromatosis, maffucci type	Enrichment	IDH1	1.01
315	Glioma susceptibility 1	Enrichment	IDH1	0.95
316	Leber congenital amaurosis 1	Enrichment	LRAT	0.95
317	Catecholaminergic polymorphic ventricular tachycardia 1	Enrichment	CALM1	0.95
318	Chronic kidney disease	Enrichment	CUBN	0.95
319	Hereditary chronic pancreatitis	Enrichment	PRSS1	0.92
320	Cowden syndrome	Enrichment	AKT1	0.91
321	Atypical hemolytic-uremic syndrome	Enrichment	MMACHC	0.89
322	Stroke, ischemic	Enrichment	NOS3	0.86
323	Pancreatitis, hereditary	Enrichment	PRSS1	0.84
324	Presynaptic congenital myasthenic syndromes	Enrichment	AGRN	0.83
325	Inherited cancer-predisposing syndrome	Enrichment	DHFR	0.81
326	Meningioma	Enrichment	AKT1	0.79
327	Postsynaptic congenital myasthenic syndromes	Enrichment	AGRN	0.79
328	Microphthalmia/coloboma 12	Enrichment	RBP4	0.76
329	Alzheimer's disease	Enrichment	APOE	0.76
330	Chromosome 1p36 deletion syndrome	Enrichment	HSPG2	0.76
331	Spastic ataxia	Enrichment	COQ4, HPDL	0.74
332	Congenital myasthenic syndrome	Enrichment	AGRN	0.73
333	Coloboma of macula	Enrichment	RBP4	0.70
334	Wilms tumor 1	Enrichment	GPC3	0.70
335	Anterior segment dysgenesis	Enrichment	RBP4	0.70
336	Cone dystrophy	Enrichment	NMNAT1	0.70
337	Gliosarcoma	Enrichment	IDH1	0.68
338	Hypertension, essential	Enrichment	NOS3	0.66
339	Sudden infant death syndrome	Enrichment	CALM2	0.66
340	Giant cell glioblastoma	Enrichment	IDH1	0.66
341	Macs syndrome	Enrichment	RBP4	0.59
342	Craniosynostosis	Enrichment	GPC4	0.59
343	Cardiomyopathy, dilated, 1a	Enrichment	LPL	0.58
344	Myocardial infarction	Enrichment	LRP8	0.56
345	Microphthalmia	Enrichment	RBP4	0.56
346	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	ABCC1	0.42
347	Genetic steroid-resistant nephrotic syndrome	Enrichment	COQ8B	0.40
348	Leukemia, acute myeloid	Enrichment	IDH1	0.35
349	Charcot-marie-tooth disease	Enrichment	TTR	0.34
350	Hereditary breast carcinoma	Enrichment	AKT1	0.32
351	Primary ovarian insufficiency	Enrichment	NOS3	0.24
352	Breast cancer	Enrichment	AKT1	0.17
353	Colorectal cancer	Enrichment	AKT1	0.14
354	Mitochondrial disease	Enrichment	COQ8A	0.14
355	Ovarian cancer	Enrichment	AKT1	0.11
356	Congenital nervous system abnormality	Enrichment	COQ8A	0.10
357	Nervous system disease	Enrichment	COQ8A	0.10
358	Complex neurodevelopmental disorder	Enrichment	HPDL	0.08

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 water-soluble vitamins and cofactors

Pathway Network for Metabolism of water-soluble vitamins and cofactors

Pathway network for the Metabolism of water-soluble vitamins and cofactors SuperPath

Member Pathways for Metabolism of water-soluble vitamins and cofactors

Pathways in the Metabolism of water-soluble vitamins and cofactors SuperPath

Gene overlap in member pathways for Metabolism of water-soluble vitamins and cofactors SuperPath

Associated Genes for Metabolism of water-soluble vitamins and cofactors

Associated Disorders for Metabolism of water-soluble vitamins and cofactors

Disorders associated with Metabolism of water-soluble vitamins and cofactors SuperPath

STRING Interaction Network for Metabolism of water-soluble vitamins and cofactors

Sources for Metabolism of water-soluble vitamins and cofactors