Disorders of transmembrane transporters

No Pathway Network information available for Disorders of transmembrane transporters

Pathways in the Disorders of transmembrane transporters SuperPath

#	Name	Source	Genes
1	Disorders of transmembrane transporters	Reactome	AAAS ABCA1 ABCA12 ABCA3 ABCB11 ABCB4 ABCB6 ABCC2 ABCC6 ABCC8 ABCC9 ABCD1 ABCD4 ABCG5 ABCG8 ADRM1 APOA1 AVP AVPR1A AVPR1B AVPR2 BSG CFTR CP DERL1 DERL2 DERL3 ERLEC1 ERLIN1 ERLIN2 GCK GCKR HEPH HK1 KCNJ11 LMBRD1 NDC1 NUP107 NUP133 NUP153 NUP155 NUP160 NUP188 NUP205 NUP210 NUP214 NUP35 NUP37 NUP42 NUP43 NUP50 NUP54 NUP58 NUP62 NUP85 NUP88 NUP93 NUP98 OS9 POM121 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RAE1 RANBP2 RHAG RNF185 RNF5 RPS27A SEC13 SEH1L SEL1L SEM1 SLC11A2 SLC12A1 SLC12A3 SLC12A6 SLC16A1 SLC17A5 SLC17A8 SLC1A1 SLC1A3 SLC20A2 SLC22A12 SLC22A5 SLC24A1 SLC24A4 SLC24A5 SLC26A2 SLC26A3 SLC26A4 SLC27A4 SLC29A3 SLC2A1 SLC2A10 SLC2A2 SLC2A9 SLC33A1 SLC34A1 SLC34A2 SLC34A3 SLC35A1 SLC35A2 SLC35A3 SLC35C1 SLC36A2 SLC39A4 SLC3A1 SLC3A2 SLC40A1 SLC4A1 SLC4A4 SLC5A1 SLC5A2 SLC5A5 SLC5A7 SLC67A1 SLC6A14 SLC6A18 SLC6A19 SLC6A2 SLC6A20 SLC6A3 SLC6A5 SLC7A7 SLC7A9 SLC9A6 SLC9A9 SLCO1B1 SLCO1B3 SLCO2A1 TPR UBA52 UBB UBC VCP (see all 163) (see less)
2	SLC transporter disorders	Reactome	AAAS AVP AVPR1A AVPR1B AVPR2 BSG CP GCK GCKR HEPH HK1 NDC1 NUP107 NUP133 NUP153 NUP155 NUP160 NUP188 NUP205 NUP210 NUP214 NUP35 NUP37 NUP42 NUP43 NUP50 NUP54 NUP58 NUP62 NUP85 NUP88 NUP93 NUP98 POM121 RAE1 RANBP2 RHAG SEC13 SEH1L SLC11A2 SLC12A1 SLC12A3 SLC12A6 SLC16A1 SLC17A5 SLC17A8 SLC1A1 SLC1A3 SLC20A2 SLC22A12 SLC22A5 SLC24A1 SLC24A4 SLC24A5 SLC26A2 SLC26A3 SLC26A4 SLC27A4 SLC29A3 SLC2A1 SLC2A10 SLC2A2 SLC2A9 SLC33A1 SLC34A1 SLC34A2 SLC34A3 SLC35A1 SLC35A2 SLC35A3 SLC35C1 SLC36A2 SLC39A4 SLC3A1 SLC3A2 SLC40A1 SLC4A1 SLC4A4 SLC5A1 SLC5A2 SLC5A5 SLC5A7 SLC67A1 SLC6A14 SLC6A18 SLC6A19 SLC6A2 SLC6A20 SLC6A3 SLC6A5 SLC7A7 SLC7A9 SLC9A6 SLC9A9 SLCO1B1 SLCO1B3 SLCO2A1 TPR (see all 98) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	SLC9A6	Solute Carrier Family 9 Member A6	Protein Coding	2
2	SLC35A1	Solute Carrier Family 35 Member A1	Protein Coding	2
3	SLC34A2	Solute Carrier Family 34 Member 2	Protein Coding	2
4	SLCO1B1	Solute Carrier Organic Anion Transporter Family Member 1B1	Protein Coding	2
5	NUP50	Nucleoporin 50	Protein Coding	2
6	SLC27A4	Solute Carrier Family 27 Member 4	Protein Coding	2
7	NUP42	Nucleoporin 42	Protein Coding	2
8	SLC7A9	Solute Carrier Family 7 Member 9	Protein Coding	2
9	SLC6A14	Solute Carrier Family 6 Member 14	Protein Coding	2
10	SLC22A12	Solute Carrier Family 22 Member 12	Protein Coding	2
11	SLC24A4	Solute Carrier Family 24 Member 4	Protein Coding	2
12	NUP35	Nucleoporin 35	Protein Coding	2
13	CP	Ceruloplasmin	Protein Coding	2
14	SLC34A3	Solute Carrier Family 34 Member 3	Protein Coding	2
15	SLC36A2	Solute Carrier Family 36 Member 2	Protein Coding	2
16	SLC26A3	Solute Carrier Family 26 Member 3	Protein Coding	2
17	SLC26A2	Solute Carrier Family 26 Member 2	Protein Coding	2
18	NUP205	Nucleoporin 205	Protein Coding	2
19	NUP210	Nucleoporin 210	Protein Coding	2
20	NUP160	Nucleoporin 160	Protein Coding	2
21	SLC35A3	Solute Carrier Family 35 Member A3	Protein Coding	2
22	NUP188	Nucleoporin 188	Protein Coding	2
23	NUP62	Nucleoporin 62	Protein Coding	2
24	SLC17A8	Solute Carrier Family 17 Member 8	Protein Coding	2
25	GCK	Glucokinase	Protein Coding	2
26	GCKR	Glucokinase Regulator	Protein Coding	2
27	SLC17A5	Solute Carrier Family 17 Member 5	Protein Coding	2
28	SLCO1B3	Solute Carrier Organic Anion Transporter Family Member 1B3	Protein Coding	2
29	SLC24A5	Solute Carrier Family 24 Member 5	Protein Coding	2
30	SLC9A9	Solute Carrier Family 9 Member A9	Protein Coding	2
31	SLC40A1	Solute Carrier Family 40 Member 1	Protein Coding	2
32	HK1	Hexokinase 1	Protein Coding	2
33	SLC6A19	Solute Carrier Family 6 Member 19	Protein Coding	2
34	SLC6A18	Solute Carrier Family 6 Member 18	Protein Coding	2
35	NUP43	Nucleoporin 43	Protein Coding	2
36	SLC11A2	Solute Carrier Family 11 Member 2	Protein Coding	2
37	NUP88	Nucleoporin 88	Protein Coding	2
38	NUP98	Nucleoporin 98 And 96 Precursor	Protein Coding	2
39	SLC67A1	Solute Carrier Family 67 Member 1	Protein Coding	2
40	SLC26A4	Solute Carrier Family 26 Member 4	Protein Coding	2
41	NUP54	Nucleoporin 54	Protein Coding	2
42	SLC6A20	Solute Carrier Family 6 Member 20	Protein Coding	2
43	AVP	Arginine Vasopressin	Protein Coding	2
44	AVPR1A	Arginine Vasopressin Receptor 1A	Protein Coding	2
45	AVPR1B	Arginine Vasopressin Receptor 1B	Protein Coding	2
46	SLC29A3	Solute Carrier Family 29 Member 3	Protein Coding	2
47	SLC35C1	Solute Carrier Family 35 Member C1	Protein Coding	2
48	AVPR2	Arginine Vasopressin Receptor 2	Protein Coding	2
49	SLC39A4	Solute Carrier Family 39 Member 4	Protein Coding	2
50	NDC1	NDC1 Transmembrane Nucleoporin	Protein Coding	2
51	NUP133	Nucleoporin 133	Protein Coding	2
52	SLC2A9	Solute Carrier Family 2 Member 9	Protein Coding	2
53	NUP107	Nucleoporin 107	Protein Coding	2
54	RANBP2	RAN Binding Protein 2	Protein Coding	2
55	RHAG	Rh Associated Glycoprotein	Protein Coding	2
56	SLC5A7	Solute Carrier Family 5 Member 7	Protein Coding	2
57	SEC13	SEC13 Homolog, Nuclear Pore And COPII Component	Protein Coding	2
58	SLC1A1	Solute Carrier Family 1 Member 1	Protein Coding	2
59	SLC1A3	Solute Carrier Family 1 Member 3	Protein Coding	2
60	SLC2A1	Solute Carrier Family 2 Member 1	Protein Coding	2
61	SLC2A2	Solute Carrier Family 2 Member 2	Protein Coding	2
62	SLC3A1	Solute Carrier Family 3 Member 1	Protein Coding	2
63	SLC3A2	Solute Carrier Family 3 Member 2	Protein Coding	2
64	SLC4A1	Solute Carrier Family 4 Member 1 (Diego Blood Group)	Protein Coding	2
65	SLC5A1	Solute Carrier Family 5 Member 1	Protein Coding	2
66	SLC5A2	Solute Carrier Family 5 Member 2	Protein Coding	2
67	SLC5A5	Solute Carrier Family 5 Member 5	Protein Coding	2
68	SLC6A2	Solute Carrier Family 6 Member 2	Protein Coding	2
69	SLC6A3	Solute Carrier Family 6 Member 3	Protein Coding	2
70	SLC12A1	Solute Carrier Family 12 Member 1	Protein Coding	2
71	SLC12A3	Solute Carrier Family 12 Member 3	Protein Coding	2
72	SLC16A1	Solute Carrier Family 16 Member 1	Protein Coding	2
73	SLC34A1	Solute Carrier Family 34 Member 1	Protein Coding	2
74	SLC20A2	Solute Carrier Family 20 Member 2	Protein Coding	2
75	SLCO2A1	Solute Carrier Organic Anion Transporter Family Member 2A1	Protein Coding	2
76	SLC22A5	Solute Carrier Family 22 Member 5	Protein Coding	2
77	BSG	Basigin (Ok Blood Group)	Protein Coding	2
78	TPR	Translocated Promoter Region, Nuclear Basket Protein	Protein Coding	2
79	SLC35A2	Solute Carrier Family 35 Member A2	Protein Coding	2
80	NUP37	Nucleoporin 37	Protein Coding	2
81	NUP85	Nucleoporin 85	Protein Coding	2
82	NUP214	Nucleoporin 214	Protein Coding	2
83	AAAS	Aladin WD Repeat Nucleoporin	Protein Coding	2
84	SLC2A10	Solute Carrier Family 2 Member 10	Protein Coding	2
85	SEH1L	SEH1 Like Nucleoporin	Protein Coding	2
86	RAE1	Ribonucleic Acid Export 1	Protein Coding	2
87	SLC4A4	Solute Carrier Family 4 Member 4	Protein Coding	2
88	SLC7A7	Solute Carrier Family 7 Member 7	Protein Coding	2
89	SLC6A5	Solute Carrier Family 6 Member 5	Protein Coding	2
90	SLC24A1	Solute Carrier Family 24 Member 1	Protein Coding	2
91	SLC33A1	Solute Carrier Family 33 Member 1	Protein Coding	2
92	NUP155	Nucleoporin 155	Protein Coding	2
93	NUP93	Nucleoporin 93	Protein Coding	2
94	NUP58	Nucleoporin 58	Protein Coding	2
95	HEPH	Hephaestin	Protein Coding	2
96	POM121	POM121 Transmembrane Nucleoporin	Protein Coding	2
97	NUP153	Nucleoporin 153	Protein Coding	2
98	SLC12A6	Solute Carrier Family 12 Member 6	Protein Coding	2
99	ABCB6	ATP Binding Cassette Subfamily B Member 6 (LAN Blood Group)	Protein Coding	1
100	ABCC9	ATP Binding Cassette Subfamily C Member 9	Protein Coding	1
101	PSMD14	Proteasome 26S Subunit, Non-ATPase 14	Protein Coding	1
102	ERLIN1	ER Lipid Raft Associated 1	Protein Coding	1
103	CFTR	CF Transmembrane Conductance Regulator	Protein Coding	1
104	OS9	OS9 Endoplasmic Reticulum Lectin	Protein Coding	1
105	ADRM1	ADRM1 26S Proteasome Ubiquitin Receptor	Protein Coding	1
106	ERLIN2	ER Lipid Raft Associated 2	Protein Coding	1
107	ABCC2	ATP Binding Cassette Subfamily C Member 2	Protein Coding	1
108	ABCA1	ATP Binding Cassette Subfamily A Member 1	Protein Coding	1
109	ABCA3	ATP Binding Cassette Subfamily A Member 3	Protein Coding	1
110	ABCD1	ATP Binding Cassette Subfamily D Member 1	Protein Coding	1
111	ABCA12	ATP Binding Cassette Subfamily A Member 12	Protein Coding	1
112	ERLEC1	Endoplasmic Reticulum Lectin 1	Protein Coding	1
113	APOA1	Apolipoprotein A1	Protein Coding	1
114	ABCC6	ATP Binding Cassette Subfamily C Member 6	Protein Coding	1
115	KCNJ11	Potassium Inwardly Rectifying Channel Subfamily J Member 11	Protein Coding	1
116	DERL2	Derlin 2	Protein Coding	1
117	ABCB4	ATP Binding Cassette Subfamily B Member 4	Protein Coding	1
118	LMBRD1	LMBR1 Domain Containing 1	Protein Coding	1
119	PSMA1	Proteasome 20S Subunit Alpha 1	Protein Coding	1
120	PSMA2	Proteasome 20S Subunit Alpha 2	Protein Coding	1
121	PSMA3	Proteasome 20S Subunit Alpha 3	Protein Coding	1
122	PSMA4	Proteasome 20S Subunit Alpha 4	Protein Coding	1
123	PSMA5	Proteasome 20S Subunit Alpha 5	Protein Coding	1
124	PSMA6	Proteasome 20S Subunit Alpha 6	Protein Coding	1
125	PSMA7	Proteasome 20S Subunit Alpha 7	Protein Coding	1
126	PSMB1	Proteasome 20S Subunit Beta 1	Protein Coding	1
127	PSMB2	Proteasome 20S Subunit Beta 2	Protein Coding	1
128	PSMB3	Proteasome 20S Subunit Beta 3	Protein Coding	1
129	PSMB4	Proteasome 20S Subunit Beta 4	Protein Coding	1
130	PSMB5	Proteasome 20S Subunit Beta 5	Protein Coding	1
131	PSMB6	Proteasome 20S Subunit Beta 6	Protein Coding	1
132	PSMB7	Proteasome 20S Subunit Beta 7	Protein Coding	1
133	PSMC1	Proteasome 26S Subunit, ATPase 1	Protein Coding	1
134	PSMC2	Proteasome 26S Subunit, ATPase 2	Protein Coding	1
135	PSMC3	Proteasome 26S Subunit, ATPase 3	Protein Coding	1
136	PSMC4	Proteasome 26S Subunit, ATPase 4	Protein Coding	1
137	PSMC5	Proteasome 26S Subunit, ATPase 5	Protein Coding	1
138	PSMC6	Proteasome 26S Subunit, ATPase 6	Protein Coding	1
139	PSMD1	Proteasome 26S Subunit, Non-ATPase 1	Protein Coding	1
140	PSMD2	Proteasome 26S Subunit Ubiquitin Receptor, Non-ATPase 2	Protein Coding	1
141	PSMD3	Proteasome 26S Subunit, Non-ATPase 3	Protein Coding	1
142	PSMD7	Proteasome 26S Subunit, Non-ATPase 7	Protein Coding	1
143	PSMD8	Proteasome 26S Subunit, Non-ATPase 8	Protein Coding	1
144	PSMD11	Proteasome 26S Subunit, Non-ATPase 11	Protein Coding	1
145	PSMD12	Proteasome 26S Subunit, Non-ATPase 12	Protein Coding	1
146	PSMD13	Proteasome 26S Subunit, Non-ATPase 13	Protein Coding	1
147	ABCD4	ATP Binding Cassette Subfamily D Member 4	Protein Coding	1
148	RNF5	Ring Finger Protein 5	Protein Coding	1
149	RPS27A	Ribosomal Protein S27a	Protein Coding	1
150	SEL1L	SEL1L Adaptor Subunit Of SYVN1 Ubiquitin Ligase	Protein Coding	1
151	ABCG5	ATP Binding Cassette Subfamily G Member 5	Protein Coding	1
152	ABCG8	ATP Binding Cassette Subfamily G Member 8	Protein Coding	1
153	ABCC8	ATP Binding Cassette Subfamily C Member 8	Protein Coding	1
154	UBA52	Ubiquitin A-52 Residue Ribosomal Protein Fusion Product 1	Protein Coding	1
155	UBB	Ubiquitin B	Protein Coding	1
156	UBC	Ubiquitin C	Protein Coding	1
157	VCP	Valosin Containing Protein	Protein Coding	1
158	DERL1	Derlin 1	Protein Coding	1
159	SEM1	SEM1 26S Proteasome Subunit	Protein Coding	1
160	ABCB11	ATP Binding Cassette Subfamily B Member 11	Protein Coding	1
161	DERL3	Derlin 3	Protein Coding	1
162	RNF185	Ring Finger Protein 185	Protein Coding	1
163	PSMD6	Proteasome 26S Subunit, Non-ATPase 6	Protein Coding	1

Disorders associated with Disorders of transmembrane transporters SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Iminoglycinuria	Enrichment	SLC36A2, SLC6A18, SLC6A19, SLC6A20	8.59
2	Genetic steroid-resistant nephrotic syndrome	Enrichment	NUP107, NUP133, NUP160, NUP205, NUP37, NUP85, NUP93	8.42
3	Hyperinsulinemic hypoglycemia, familial, 1	Enrichment	ABCC8, GCK, KCNJ11	4.48
4	Nonsyndromic genetic hyperinsulinism	Enrichment	ABCC8, GCK, KCNJ11	4.48
5	Nephrocalcinosis	Enrichment	SLC12A1, SLC34A1, SLC3A1	4.37
6	Nephrolithiasis	Enrichment	SLC12A1, SLC34A1, SLC3A1	4.37
7	Hyperglycinuria	Enrichment	SLC36A2, SLC6A19	4.29
8	Hypophosphatemic rickets with hypercalciuria, hereditary	Enrichment	SLC34A1, SLC34A3	4.29
9	Nephrolithiasis/osteoporosis, hypophosphatemic, 1	Enrichment	SLC34A1, SLC34A3	4.29
10	Myasthenic syndrome, congenital, 20, presynaptic	Enrichment	SLC22A5, SLC5A7	4.29
11	Familial renal hypouricemia	Enrichment	SLC22A12, SLC2A9	4.29
12	Permanent neonatal diabetes mellitus	Enrichment	ABCC8, GCK, KCNJ11	4.04
13	Coronary heart disease 5	Enrichment	ABCA1, ABCG5, ABCG8	3.87
14	Cholestasis, progressive familial intrahepatic, 3	Enrichment	ABCB11, ABCB4	3.84
15	Gallbladder disease 4	Enrichment	ABCG5, ABCG8	3.84
16	Diabetes mellitus, permanent neonatal, 1	Enrichment	GCK, KCNJ11	3.84
17	Cholestasis, intrahepatic, of pregnancy 3	Enrichment	ABCB11, ABCB4	3.84
18	Intrahepatic cholestasis	Enrichment	ABCB11, ABCB4	3.84
19	Hyperbilirubinemia, rotor type	Enrichment	SLCO1B1, SLCO1B3	3.81
20	Cystinuria	Enrichment	SLC3A1, SLC7A9	3.51
21	Renal glucosuria	Enrichment	SLC5A1, SLC5A2	3.51
22	Familial infantile bilateral striatal necrosis	Enrichment	NUP54, NUP62	3.51
23	Sitosterolemia 1	Enrichment	ABCG5, ABCG8	3.37
24	Hypoalphalipoproteinemia, primary, 2	Enrichment	ABCA1, APOA1	3.37
25	Sitosterolemia	Enrichment	ABCG5, ABCG8	3.37
26	Dend syndrome	Enrichment	ABCC8, KCNJ11	3.37
27	Hypoalphalipoproteinemia, primary, 1	Enrichment	ABCA1, APOA1	3.07
28	Neonatal diabetes mellitus	Enrichment	ABCC8, KCNJ11	3.07
29	Intrahepatic cholestasis of pregnancy	Enrichment	ABCB11, ABCB4	3.07
30	Bartter disease	Enrichment	SLC12A1, SLC12A3	2.97
31	Transient neonatal diabetes mellitus	Enrichment	ABCC8, KCNJ11	2.85
32	Polyhydramnios	Enrichment	ABCC8, SLC26A3	2.85
33	Hypoglycemia	Enrichment	ABCC8, KCNJ11	2.85
34	Alternating hemiplegia of childhood	Enrichment	SLC1A3, SLC2A1	2.85
35	Type 2 diabetes mellitus	Enrichment	ABCC8, GCK, KCNJ11, SLC2A2	2.80
36	Maturity-onset diabetes of the young	Enrichment	ABCC8, GCK, KCNJ11	2.78
37	Pseudoxanthoma elasticum	Enrichment	ABCC2, ABCC6	2.68
38	Lipid metabolism disorder	Enrichment	ABCG5, ABCG8	2.68
39	Patent ductus arteriosus	Enrichment	ABCC9, PSMC3	2.68
40	Galloway-mowat syndrome	Enrichment	NUP107, NUP133	2.65
41	Progressive familial intrahepatic cholestasis	Enrichment	ABCB11, ABCB4	2.54
42	Methylmalonic aciduria and homocystinuria, cblc type	Enrichment	ABCD4, LMBRD1	2.42
43	Homozygous familial hypercholesterolemia	Enrichment	ABCG5, ABCG8	2.42
44	Diabetes insipidus, neurohypophyseal	Enrichment	AVP	2.14
45	Neuronopathy, distal hereditary motor, autosomal dominant 7	Enrichment	SLC5A7	2.14
46	Skin/hair/eye pigmentation, variation in, 6	Enrichment	SLC24A4	2.14
47	Acrodermatitis enteropathica, zinc-deficiency type	Enrichment	SLC39A4	2.14
48	Diastrophic dysplasia	Enrichment	SLC26A2	2.14
49	Overhydrated hereditary stomatocytosis	Enrichment	RHAG	2.14
50	Hypouricemia, renal, 1	Enrichment	SLC22A12	2.14
51	Anemia, congenital, nonspherocytic hemolytic, 5	Enrichment	HK1	2.14
52	Dicarboxylic aminoaciduria	Enrichment	SLC1A1	2.14
53	Pulmonary alveolar microlithiasis	Enrichment	SLC34A2	2.14
54	Rh-null, regulator type	Enrichment	RHAG	2.14
55	Thyroid dyshormonogenesis 1	Enrichment	SLC5A5	2.14
56	Intellectual developmental disorder, x-linked, syndromic, christianson type	Enrichment	SLC9A6	2.14
57	Nephrogenic syndrome of inappropriate antidiuresis	Enrichment	AVPR2	2.14
58	Congenital disorder of glycosylation, type iim	Enrichment	SLC35A2	2.14
59	Diabetes insipidus, nephrogenic, 1, x-linked	Enrichment	AVPR2	2.14
60	Congenital disorder of glycosylation, type iic	Enrichment	SLC35C1	2.14
61	Atelosteogenesis, type ii	Enrichment	SLC26A2	2.14
62	Blood group, diego system	Enrichment	SLC4A1	2.14
63	Aceruloplasminemia	Enrichment	CP	2.14
64	Ovalocytosis, southeast asian	Enrichment	SLC4A1	2.14
65	Stomatin-deficient cryohydrocytosis with neurologic defects	Enrichment	SLC2A1	2.14
66	Spastic paraplegia 42, autosomal dominant	Enrichment	SLC33A1	2.14
67	Hypertrophic osteoarthropathy, primary, autosomal dominant	Enrichment	SLCO2A1	2.14
68	Blood group--wright antigen	Enrichment	SLC4A1	2.14
69	Spherocytosis, type 4	Enrichment	SLC4A1	2.14
70	Episodic ataxia, type 6	Enrichment	SLC1A3	2.14
71	Maturity-onset diabetes of the young, type 2	Enrichment	GCK	2.14
72	Epiphyseal dysplasia, multiple, 4	Enrichment	SLC26A2	2.14
73	Erythrocyte lactate transporter defect	Enrichment	SLC16A1	2.14
74	Diarrhea 1, secretory chloride, congenital	Enrichment	SLC26A3	2.14
75	Fanconi renotubular syndrome 2	Enrichment	SLC34A1	2.14
76	Retinitis pigmentosa 79	Enrichment	HK1	2.14
77	Cryohydrocytosis	Enrichment	SLC4A1	2.14
78	Anemia, hypochromic microcytic, with iron overload 1	Enrichment	SLC11A2	2.14
79	Fetal akinesia deformation sequence 4	Enrichment	NUP88	2.14
80	Schizophrenia 18	Enrichment	SLC1A1	2.14
81	Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima	Enrichment	NDC1	2.14
82	Blood group--swann system	Enrichment	SLC4A1	2.14
83	Atrial fibrillation, familial, 15	Enrichment	NUP155	2.14
84	Dystonia 37, early-onset, with striatal lesions	Enrichment	NUP54	2.14
85	Nephrotic syndrome, type 19	Enrichment	NUP160	2.14
86	Rhabdomyosarcoma, embryonal, 1	Enrichment	SLC67A1	2.14
87	Neurodegenerative disorder, x-linked, female-restricted, with parkinsonism and cognitive impairment	Enrichment	SLC9A6	2.14
88	Acrodermatitis enteropathica	Enrichment	SLC39A4	2.14
89	Glucose/galactose malabsorption	Enrichment	SLC5A1	2.14
90	Galloway-mowat syndrome 8	Enrichment	NUP133	2.14
91	Achondrogenesis, type ib	Enrichment	SLC26A2	2.14
92	Nephrotic syndrome, type 13	Enrichment	NUP205	2.14
93	Central diabetes insipidus	Enrichment	AVP	2.14
94	Hypercalcemia, infantile, 2	Enrichment	SLC34A1	2.14
95	Autism 16	Enrichment	SLC9A9	2.14
96	X-linked nephrogenic diabetes insipidus	Enrichment	AVPR2	2.14
97	Hemochromatosis, type 4	Enrichment	SLC40A1	2.14
98	Hyperinsulinemic hypoglycemia, familial, 3	Enrichment	GCK	2.14
99	Amelogenesis imperfecta, hypomaturation type, iia5	Enrichment	SLC24A4	2.14
100	Congenital disorder of glycosylation, type iif	Enrichment	SLC35A1	2.14
101	Neuropathy, hereditary motor and sensory, russe type	Enrichment	HK1	2.14
102	Deafness, autosomal dominant 25	Enrichment	SLC17A8	2.14
103	Microcephaly 24, primary, autosomal recessive	Enrichment	NUP37	2.14
104	Parkinsonism-dystonia 1, infantile-onset	Enrichment	SLC6A3	2.14
105	Galloway-mowat syndrome 7	Enrichment	NUP107	2.14
106	Neurodevelopmental disorder with visual defects and brain anomalies	Enrichment	HK1	2.14
107	Ichthyosis prematurity syndrome	Enrichment	SLC27A4	2.14
108	Huppke-brendel syndrome	Enrichment	SLC33A1	2.14
109	Epilepsy, idiopathic generalized 12	Enrichment	SLC2A1	2.14
110	Night blindness, congenital stationary, type 1d	Enrichment	SLC24A1	2.14
111	Nephrotic syndrome, type 12	Enrichment	NUP93	2.14
112	Arthrogryposis, impaired intellectual development, and seizures	Enrichment	SLC35A3	2.14
113	Hyperekplexia 3	Enrichment	SLC6A5	2.14
114	Fasting plasma glucose level quantitative trait locus 5	Enrichment	GCKR	2.14
115	Nephrotic syndrome, type 11	Enrichment	NUP107	2.14
116	Encephalopathy, acute, infection-induced 9	Enrichment	NUP214	2.14
117	Sandestig-stefanova syndrome	Enrichment	NUP188	2.14
118	Chronic enteropathy associated with slco2a1 gene	Enrichment	SLCO2A1	2.14
119	Ovarian dysgenesis 6	Enrichment	NUP107	2.14
120	Intellectual developmental disorder, autosomal recessive 79	Enrichment	TPR	2.14
121	Nephrotic syndrome, type 18	Enrichment	NUP133	2.14
122	Postural orthostatic tachycardia syndrome	Enrichment	SLC6A2	2.14
123	Autosomal recessive hypophosphatemic bone disease	Enrichment	SLC34A3	2.14
124	Classic dopamine transporter deficiency syndrome	Enrichment	SLC6A3	2.14
125	Hot water epilepsy	Enrichment	SLC1A1	2.14
126	Gestational diabetes	Enrichment	GCK	2.14
127	Epilepsy with myoclonic absences	Enrichment	SLC2A1	2.14
128	Familial acute necrotizing encephalopathy	Enrichment	RANBP2	2.14
129	Isolated focal cortical dysplasia type ia	Enrichment	SLC35A2	2.14
130	Parkinsonism-dystonia, infantile	Enrichment	SLC6A3	2.14
131	Hereditary cryohydrocytosis with reduced stomatin	Enrichment	SLC2A1	2.14
132	Hereditary arginine vasopressin deficiency	Enrichment	AVP	2.14
133	Diabetes mellitus	Enrichment	GCK, KCNJ11	2.13
134	Methylmalonic aciduria and homocystinuria, cblf type	Enrichment	LMBRD1	1.92
135	Hyperinsulinemic hypoglycemia, familial, 2	Enrichment	KCNJ11	1.92
136	Spastic paraplegia 18b, autosomal recessive	Enrichment	ERLIN2	1.92
137	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	Enrichment	VCP	1.92
138	Dyschromatosis universalis hereditaria 3	Enrichment	ABCB6	1.92
139	Blood group, langereis system	Enrichment	ABCB6	1.92
140	Arterial calcification, generalized, of infancy, 2	Enrichment	ABCC6	1.92
141	Hypoadrenocorticism, familial	Enrichment	ABCD1	1.92
142	Microphthalmia/coloboma 7	Enrichment	ABCB6	1.92
143	Pseudoxanthoma elasticum, forme fruste	Enrichment	ABCC6	1.92
144	Gallbladder disease 1	Enrichment	ABCB4	1.92
145	Intellectual disability and myopathy syndrome	Enrichment	ABCC9	1.92
146	Neurodevelopmental disorder with microcephaly, hypotonia, and absent language	Enrichment	PSMB1	1.92
147	Maturity-onset diabetes of the young, type 12	Enrichment	ABCC8	1.92
148	Stankiewicz-isidor syndrome	Enrichment	PSMD12	1.92
149	Dyschromatosis universalis hereditaria	Enrichment	ABCB6	1.92
150	Diabetes mellitus, transient neonatal, 3	Enrichment	KCNJ11	1.92
151	Pseudohyperkalemia, familial, 2, due to red cell leak	Enrichment	ABCB6	1.92
152	Deafness, cataract, impaired intellectual development, and polyneuropathy	Enrichment	PSMC3	1.92
153	Hereditary spastic paraplegia 18	Enrichment	ERLIN2	1.92
154	Diabetes mellitus, permanent neonatal, 2	Enrichment	KCNJ11	1.92
155	Methylmalonic aciduria and homocystinuria, cblj type	Enrichment	ABCD4	1.92
156	Maturity-onset diabetes of the young, type 13	Enrichment	KCNJ11	1.92
157	Encephalitis	Enrichment	ABCD1	1.92
158	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Enrichment	VCP	1.92
159	Autosomal dominant hyperinsulinism due to sur1 deficiency	Enrichment	ABCC8	1.92
160	Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies	Enrichment	SEL1L	1.92
161	Multisystem proteinopathy	Enrichment	VCP	1.92
162	Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies	Enrichment	ABCA3	1.92
163	Spastic paraplegia 62, autosomal recessive	Enrichment	ERLIN1	1.92
164	X-linked cerebral adrenoleukodystrophy	Enrichment	ABCD1	1.92
165	Adult-onset distal myopathy due to vcp mutation	Enrichment	VCP	1.92
166	Diazoxide-resistant focal hyperinsulinism due to sur1 deficiency	Enrichment	ABCC8	1.92
167	Spastic paraplegia 18a, autosomal dominant	Enrichment	ERLIN2	1.92
168	Aquagenic palmoplantar keratoderma	Enrichment	CFTR	1.92
169	Congestive heart failure	Enrichment	ABCC8	1.92
170	Intermediate dend syndrome	Enrichment	KCNJ11	1.92
171	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	Enrichment	ERLIN2	1.92
172	Adrenomyeloneuropathy	Enrichment	ABCD1	1.92
173	Diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency	Enrichment	KCNJ11	1.92
174	Chronic primary adrenal insufficiency	Enrichment	ABCD1	1.92
175	Autosomal recessive hyperinsulinism due to sur1 deficiency	Enrichment	ABCC8	1.92
176	Hypoalphalipoproteinemia	Enrichment	ABCA1	1.92
177	Autosomal dominant hyperinsulinism due to kir6.2 deficiency	Enrichment	KCNJ11	1.92
178	Autosomal recessive hyperinsulinism due to kir6.2 deficiency	Enrichment	KCNJ11	1.92
179	Autosomal recessive congenital ichthyosis	Enrichment	ABCA12, SLC27A4	1.87
180	Maturity-onset diabetes of the young, type 1	Enrichment	GCK	1.84
181	Fanconi-bickel syndrome	Enrichment	SLC2A2	1.84
182	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	Enrichment	TPR	1.84
183	Striatonigral degeneration, infantile	Enrichment	NUP62	1.84
184	Dystonia 9	Enrichment	SLC2A1	1.84
185	Histiocytosis-lymphadenopathy plus syndrome	Enrichment	SLC29A3	1.84
186	3mc syndrome 2	Enrichment	SLC26A2	1.84
187	Glut1 deficiency syndrome 1	Enrichment	SLC2A1	1.84
188	Proximal renal tubular acidosis-ocular anomaly syndrome	Enrichment	SLC4A4	1.84
189	Albinism, oculocutaneous, type vi	Enrichment	SLC24A5	1.84
190	Bone marrow failure syndrome 2	Enrichment	GCK	1.84
191	Hypouricemia, renal, 2	Enrichment	SLC2A9	1.84
192	Monocarboxylate transporter 1 deficiency	Enrichment	SLC16A1	1.84
193	Myasthenic syndrome, congenital, 22	Enrichment	SLC3A1	1.84
194	Hartnup disorder	Enrichment	SLC6A19	1.84
195	Factor xii deficiency	Enrichment	SLC34A1	1.84
196	Phoar2-enteropathy syndrome	Enrichment	SLCO2A1	1.84
197	Hermansky-pudlak syndrome 3	Enrichment	CP	1.84
198	Bartter syndrome, type 1, antenatal	Enrichment	SLC12A1	1.84
199	Nephrotic syndrome, type 17	Enrichment	NUP85	1.84
200	Glucose transporter type 1 deficiency syndrome	Enrichment	SLC2A1	1.84
201	Renal tubular acidosis	Enrichment	SLC4A1	1.84
202	Primary hypertrophic osteoarthropathy	Enrichment	SLCO2A1	1.84
203	Hyperinsulinemic hypoglycemia, familial, 7	Enrichment	SLC16A1	1.84
204	Renal tubular acidosis, distal, 4, with hemolytic anemia	Enrichment	SLC4A1	1.84
205	Autosomal recessive infantile hypercalcemia	Enrichment	SLC34A1	1.84
206	Distal hereditary motor neuropathy type 7	Enrichment	SLC5A7	1.84
207	Acute myeloid leukemia with t(6;9) (p23;q34.1)	Enrichment	NUP214	1.84
208	Autosomal recessive proximal renal tubular acidosis	Enrichment	SLC4A4	1.84
209	Ketoacidosis due to monocarboxylate transporter-1 deficiency	Enrichment	SLC16A1	1.84
210	Dominant hypophosphatemia with nephrolithiasis or osteoporosis	Enrichment	SLC34A1	1.84
211	Acute necrotizing encephalopathy of childhood	Enrichment	RANBP2	1.84
212	Hypokalemia	Enrichment	SLC12A3	1.84
213	Intestinal obstruction	Enrichment	SLC26A3	1.84
214	Wolff-parkinson-white syndrome	Enrichment	ABCC9, SLC26A4	1.81
215	Neuropathy, hereditary motor and sensory, okinawa type	Enrichment	SLC5A7, VCP	1.67
216	Night blindness, congenital stationary, autosomal dominant 2	Enrichment	SLC24A1	1.67
217	Arterial tortuosity syndrome	Enrichment	SLC2A10	1.67
218	Agenesis of the corpus callosum with peripheral neuropathy	Enrichment	SLC12A6	1.67
219	Lysinuric protein intolerance	Enrichment	SLC7A7	1.67
220	Nijmegen breakage syndrome	Enrichment	GCK	1.67
221	Dysosteosclerosis	Enrichment	SLC29A3	1.67
222	Carnitine deficiency, systemic primary	Enrichment	SLC22A5	1.67
223	Glut1 deficiency syndrome 2	Enrichment	SLC2A1	1.67
224	Hypotonia-cystinuria syndrome	Enrichment	SLC3A1	1.67
225	Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive	Enrichment	RANBP2	1.67
226	Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Enrichment	SLCO2A1	1.67
227	Charcot-marie-tooth disease, axonal, type 2ii	Enrichment	SLC12A6	1.67
228	Chromosome 17q23.1-q23.2 deletion syndrome	Enrichment	SLC2A1	1.67
229	Familial renal glucosuria	Enrichment	SLC5A2	1.67
230	Nephrogenic diabetes insipidus	Enrichment	AVPR2	1.67
231	Hemolytic disease of fetus and newborn, rh-induced	Enrichment	RHAG	1.67
232	Atypical hypotonia-cystinuria syndrome	Enrichment	SLC3A1	1.67
233	Ichthyosis, congenital, autosomal recessive 4b	Enrichment	ABCA12	1.62
234	Carbamoyl phosphate synthetase i deficiency, hyperammonemia due to	Enrichment	ABCA3	1.62
235	Tangier disease	Enrichment	ABCA1	1.62
236	Spondyloepimetaphyseal dysplasia, x-linked	Enrichment	ABCD1	1.62
237	Spermatogenic failure, y-linked, 2	Enrichment	CFTR	1.62
238	Surfactant metabolism dysfunction, pulmonary, 1	Enrichment	ABCA3	1.62
239	Adrenoleukodystrophy	Enrichment	ABCD1	1.62
240	Ichthyosis, congenital, autosomal recessive 4a	Enrichment	ABCA12	1.62
241	Cardiomyopathy, dilated, 1o	Enrichment	ABCC9	1.62
242	Amyotrophic lateral sclerosis 6 with or without frontotemporal dementia	Enrichment	VCP	1.62
243	Cholestasis, benign recurrent intrahepatic, 2	Enrichment	ABCB11	1.62
244	Primary lateral sclerosis, juvenile	Enrichment	ERLIN2	1.62
245	Hypoglycemia, leucine-induced	Enrichment	ABCC8	1.62
246	Cholestasis, progressive familial intrahepatic, 4	Enrichment	ABCB11	1.62
247	Atrial fibrillation, familial, 12	Enrichment	ABCC9	1.62
248	Diabetes mellitus, transient neonatal, 2	Enrichment	ABCC8	1.62
249	Cholestasis, progressive familial intrahepatic, 2	Enrichment	ABCB11	1.62
250	Birk-aharoni syndrome	Enrichment	PSMC1	1.62
251	Sitosterolemia 2	Enrichment	ABCG5	1.62
252	Proteasome-associated autoinflammatory syndrome 3	Enrichment	PSMB4	1.62
253	Surfactant metabolism dysfunction, pulmonary, 3	Enrichment	ABCA3	1.62
254	Short-rib thoracic dysplasia 15 with polydactyly	Enrichment	ABCG5	1.62
255	Diabetes mellitus, permanent neonatal, 3	Enrichment	ABCC8	1.62
256	17q24.2 microdeletion syndrome	Enrichment	PSMD12	1.62
257	Hypoalphalipoproteinemia, primary, 2, intermediate	Enrichment	APOA1	1.62
258	Amyloidosis, hereditary systemic 3	Enrichment	APOA1	1.62
259	Arterial calcification of infancy	Enrichment	ABCC6	1.62
260	Cadds	Enrichment	ABCD1	1.62
261	Hyperinsulinism	Enrichment	KCNJ11	1.62
262	Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia	Enrichment	SEL1L	1.62
263	Submucosal cleft palate	Enrichment	UBB	1.62
264	Cleft hard palate	Enrichment	UBB	1.62
265	Spastic paraplegia-paget disease of bone syndrome	Enrichment	VCP	1.62
266	Amelogenesis imperfecta, type iiia	Enrichment	SLC24A4	1.54
267	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema	Enrichment	SLC4A1	1.54
268	Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive	Enrichment	RANBP2	1.54
269	Achalasia-addisonianism-alacrima syndrome	Enrichment	AAAS	1.54
270	Infantile sialic acid storage disease	Enrichment	SLC17A5	1.54
271	Maturity-onset diabetes of the young, type 3	Enrichment	GCK	1.54
272	Salla disease	Enrichment	SLC17A5	1.54
273	Tobacco addiction	Enrichment	SLC6A3	1.54
274	Basal ganglia calcification	Enrichment	SLC20A2	1.54
275	Ectodermal dysplasia	Enrichment	RANBP2	1.54
276	Embryonal rhabdomyosarcoma	Enrichment	SLC67A1	1.54
277	Diabetes insipidus	Enrichment	AVP	1.54
278	2p21 microdeletion syndrome	Enrichment	SLC3A1	1.54
279	Primary fanconi renotubular syndrome	Enrichment	SLC34A1	1.54
280	Familial atrial fibrillation	Enrichment	ABCC9, NUP155	1.48
281	Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant	Enrichment	RANBP2	1.45
282	Gitelman syndrome	Enrichment	SLC12A3	1.45
283	Deafness, autosomal recessive 4, with enlarged vestibular aqueduct	Enrichment	SLC26A4	1.45
284	Hyperekplexia	Enrichment	SLC6A5	1.45
285	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Enrichment	RANBP2	1.45
286	Free sialic acid storage disorder	Enrichment	SLC17A5	1.45
287	Sleep disorder	Enrichment	SLC9A6	1.45
288	Prognathism, mandibular	Enrichment	ERLEC1	1.45
289	Dubin-johnson syndrome	Enrichment	ABCC2	1.45
290	Cantu syndrome	Enrichment	ABCC9	1.45
291	Proteasome-associated autoinflammatory syndrome 1	Enrichment	PSMB4	1.45
292	Uvula, bifid	Enrichment	UBB	1.45
293	Nuchal bleb, familial	Enrichment	CFTR	1.45
294	Cleft soft palate	Enrichment	UBB	1.45
295	Ehlers-danlos syndrome, kyphoscoliotic type, 1	Enrichment	ABCD1	1.45
296	Inclusion body myopathy with paget disease of bone and frontotemporal dementia	Enrichment	VCP	1.45
297	Proteosome-associated autoinflammatory syndrome	Enrichment	PSMB4	1.45
298	Hyperinsulinemic hypoglycemia	Enrichment	ABCC8	1.45
299	Spastic paraplegia 50, autosomal recessive	Enrichment	APOA1	1.45
300	Plod1-related kyphoscoliotic ehlers-danlos syndrome	Enrichment	ABCD1	1.45
301	Pediatric acute respiratory distress syndrome	Enrichment	ABCA3	1.45
302	Thyroid hemiagenesis	Enrichment	PSMD3	1.45
303	Congenital nervous system abnormality	Enrichment	AAAS, ABCD1, ERLIN2, SLC22A5	1.41
304	Nervous system disease	Enrichment	AAAS, ABCD1, ERLIN2, SLC22A5	1.41
305	Renal tubular acidosis, distal, 1	Enrichment	SLC4A1	1.37
306	Pendred syndrome	Enrichment	SLC26A4	1.37
307	Inflammatory myofibroblastic tumor	Enrichment	RANBP2	1.37
308	Familial thyroid dyshormonogenesis	Enrichment	SLC5A5	1.37
309	Hereditary spherocytosis	Enrichment	SLC4A1	1.37
310	Breast adenocarcinoma	Enrichment	SLC67A1	1.37
311	Autosomal recessive distal renal tubular acidosis	Enrichment	SLC4A1	1.37
312	Distal renal tubular acidosis	Enrichment	SLC4A1	1.37
313	Hirschsprung disease 1	Enrichment	ABCD1, NUP98	1.33
314	Dermatitis, atopic	Enrichment	KCNJ11	1.33
315	Newborn respiratory distress syndrome	Enrichment	ABCC8	1.33
316	Idiopathic bronchiectasis	Enrichment	CFTR	1.33
317	Eyelid coloboma	Enrichment	ABCB6	1.33
318	Lens coloboma	Enrichment	ABCB6	1.33
319	Mitochondrial dna depletion syndrome 4a	Enrichment	RANBP2	1.31
320	Hypothyroidism, congenital, nongoitrous, 2	Enrichment	SLC26A4	1.31
321	Oculocutaneous albinism	Enrichment	SLC24A5	1.31
322	Amelogenesis imperfecta type 2	Enrichment	SLC24A4	1.31
323	Paroxysmal dystonia	Enrichment	SLC2A1	1.31
324	Cystic fibrosis	Enrichment	CFTR, SLC6A14	1.25
325	Basal ganglia calcification, idiopathic, 1	Enrichment	SLC20A2	1.25
326	Orthostatic intolerance	Enrichment	SLC6A2	1.25
327	Mitochondrial dna depletion syndrome 4b	Enrichment	RANBP2	1.25
328	Hypothyroidism	Enrichment	SLC33A1	1.25
329	Amyloidosis, hereditary systemic 2	Enrichment	APOA1	1.23
330	Dementia, lewy body	Enrichment	VCP	1.23
331	Charcot-marie-tooth disease, axonal, type 2e	Enrichment	VCP	1.23
332	Coloboma of choroid and retina	Enrichment	ABCB6	1.23
333	Hereditary pulmonary alveolar proteinosis	Enrichment	ABCA3	1.23
334	Myoclonic-atonic epilepsy	Enrichment	SLC2A1	1.20
335	Hydrops fetalis	Enrichment	SLC26A3	1.20
336	Neurodegeneration with brain iron accumulation	Enrichment	CP	1.16
337	Developmental dysplasia of the hip 1	Enrichment	PSMC3	1.16
338	Coloboma of optic nerve	Enrichment	ABCB6	1.16
339	Cholestasis, progressive familial intrahepatic, 1	Enrichment	ABCB4	1.16
340	Kleefstra syndrome 1	Enrichment	ABCC9	1.16
341	Hypertrichosis	Enrichment	KCNJ11	1.16
342	Gilbert syndrome	Enrichment	SLCO1B1	1.12
343	Osteochondrodysplasia	Enrichment	SLC26A2	1.12
344	Presynaptic congenital myasthenic syndromes	Enrichment	SLC5A7	1.12
345	Congenital hypothyroidism	Enrichment	SLC5A5	1.08
346	46 xx gonadal dysgenesis	Enrichment	NUP107	1.08
347	Congenital long qt syndrome	Enrichment	SLC2A2	1.08
348	Amelogenesis imperfecta	Enrichment	SLC24A4	1.05
349	Hereditary spastic paraplegia	Enrichment	ERLIN1, ERLIN2	1.04
350	Gastroesophageal reflux	Enrichment	ABCC8	1.04
351	Fanconi anemia, complementation group c	Enrichment	ABCC9	1.04
352	Myocarditis	Enrichment	ABCD1	1.04
353	Isolated split hand-split foot malformation	Enrichment	SEM1	1.04
354	Seckel syndrome	Enrichment	NUP85	1.02
355	Osteogenesis imperfecta, type iii	Enrichment	SLC34A1	0.99
356	Hermansky-pudlak syndrome	Enrichment	CP	0.99
357	Bronchiectasis with or without elevated sweat chloride 1	Enrichment	CFTR	0.99
358	Vas deferens, congenital bilateral aplasia of	Enrichment	CFTR	0.99
359	Loeys-dietz syndrome	Enrichment	ABCA3	0.99
360	Progressive non-fluent aphasia	Enrichment	VCP	0.99
361	Behavioral variant of frontotemporal dementia	Enrichment	VCP	0.99
362	Juvenile amyotrophic lateral sclerosis	Enrichment	ERLIN1	0.99
363	Hermansky-pudlak syndrome 1	Enrichment	CP	0.96
364	Cat eye syndrome	Enrichment	ABCB6	0.94
365	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Enrichment	VCP	0.94
366	Polymicrogyria	Enrichment	PSMC3	0.94
367	Congenital nonbullous ichthyosiform erythroderma	Enrichment	ABCA12	0.94
368	Congenital disorder of glycosylation, type in	Enrichment	SLC35A2	0.94
369	Atrial heart septal defect	Enrichment	ABCC8	0.90
370	Ichthyosis	Enrichment	ABCA12	0.90
371	Interatrial communication	Enrichment	ABCC8	0.90
372	Focal segmental glomerulosclerosis	Enrichment	NUP93	0.87
373	Epicanthus	Enrichment	ABCC9	0.87
374	Cutis laxa	Enrichment	ABCC6	0.87
375	Cardiomyopathy, dilated, 1a	Enrichment	SLC22A5	0.85
376	Alzheimer's disease	Enrichment	VCP	0.84
377	Tooth agenesis	Enrichment	RANBP2	0.83
378	Malaria	Enrichment	SLC4A1	0.81
379	Congenital stationary night blindness	Enrichment	SLC24A1	0.81
380	Precursor t-cell acute lymphoblastic leukemia	Enrichment	NUP214	0.81
381	Hereditary chronic pancreatitis	Enrichment	CFTR	0.81
382	Ear malformation	Enrichment	SLC26A4	0.80
383	Autoinflammatory disease	Enrichment	SLC7A7	0.80
384	Scoliosis	Enrichment	SLC9A6	0.80
385	Developmental and epileptic encephalopathy 1	Enrichment	SLC2A1	0.78
386	Coloboma of macula	Enrichment	ABCB6	0.78
387	Lynch syndrome	Enrichment	CFTR	0.78
388	Rasopathy	Enrichment	SLC26A4	0.76
389	Auditory neuropathy	Enrichment	SLC17A8	0.76
390	Strabismus	Enrichment	SLC2A1	0.75
391	Microcephaly	Enrichment	NUP188, PSMC3, SLC2A1	0.73
392	Alzheimer disease, familial, 1	Enrichment	VCP	0.73
393	Pancreatitis, hereditary	Enrichment	CFTR	0.73
394	Interstitial lung disease 2	Enrichment	ABCA3	0.73
395	Autism spectrum disorder	Enrichment	HK1, SLC3A1	0.73
396	Differentiated thyroid carcinoma	Enrichment	TPR	0.72
397	Patent foramen ovale	Enrichment	PSMC3	0.71
398	Long qt syndrome 1	Enrichment	SLC2A2	0.71
399	Lung cancer	Enrichment	SLC67A1	0.68
400	Primary autosomal recessive microcephaly	Enrichment	NUP37	0.68
401	Connective tissue disease	Enrichment	SLC26A2	0.68
402	Peripheral nervous system disease	Enrichment	SLC12A6	0.68
403	Neuropathy	Enrichment	SLC12A6	0.68
404	Macs syndrome	Enrichment	ABCB6	0.67
405	Breast cancer	Enrichment	ABCA1, SLC67A1	0.64
406	Myocardial infarction	Enrichment	PSMA6	0.63
407	Skin disease	Enrichment	ABCA12	0.63
408	Fetal akinesia deformation sequence 1	Enrichment	NUP88	0.63
409	Leukemia, acute myeloid	Enrichment	NUP214	0.60
410	Epilepsy	Enrichment	SLC2A1	0.60
411	Benign epilepsy with centrotemporal spikes	Enrichment	SLC2A1	0.59
412	Centralopathic epilepsy	Enrichment	SLC2A1	0.57
413	Nephrotic syndrome	Enrichment	NUP93	0.57
414	Brugada syndrome	Enrichment	ABCC9	0.57
415	West syndrome	Enrichment	SLC2A1	0.56
416	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	SLC2A10	0.56
417	Hereditary breast carcinoma	Enrichment	SLC67A1	0.56
418	Sensorineural hearing loss	Enrichment	SLC26A4	0.53
419	Body mass index quantitative trait locus 11	Enrichment	SLC6A14	0.52
420	Hypertelorism	Enrichment	SLC12A6	0.50
421	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	SLC17A8	0.50
422	Short-rib thoracic dysplasia 1 with or without polydactyly	Enrichment	ABCG5	0.48
423	Hereditary breast ovarian cancer syndrome	Enrichment	SLC34A2	0.48
424	Male infertility	Enrichment	CFTR	0.47
425	Autosomal recessive non-syndromic intellectual disability	Enrichment	TPR	0.46
426	Eye disease	Enrichment	ABCC6	0.46
427	Deafness, autosomal recessive	Enrichment	SLC26A4	0.43
428	Autosomal recessive nonsyndromic deafness	Enrichment	SLC26A4	0.43
429	Optic atrophy plus syndrome	Enrichment	ABCC6	0.38
430	Rare genetic deafness	Enrichment	SLC26A4	0.36
431	Retinitis pigmentosa	Enrichment	HK1, SLC24A1	0.34
432	Colorectal cancer	Enrichment	SLC9A9	0.33
433	Familial isolated dilated cardiomyopathy	Enrichment	ABCC9	0.32
434	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	SLC26A4	0.32
435	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	CFTR	0.31
436	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	VCP	0.30
437	Hereditary retinal dystrophy	Enrichment	HK1, SLC24A1	0.21
438	Fundus dystrophy	Enrichment	HK1, SLC24A1	0.21
439	Complex neurodevelopmental disorder	Enrichment	PSMD12	0.11

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

Disorders of transmembrane transporters

Pathway Network for Disorders of transmembrane transporters

Member Pathways for Disorders of transmembrane transporters

Pathways in the Disorders of transmembrane transporters SuperPath

Associated Genes for Disorders of transmembrane transporters

Associated Disorders for Disorders of transmembrane transporters

Disorders associated with Disorders of transmembrane transporters SuperPath

STRING Interaction Network for Disorders of transmembrane transporters

Sources for Disorders of transmembrane transporters