Hepatic ABC Transporters

No Pathway Network information available for Hepatic ABC Transporters

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

Disorders associated with Hepatic ABC Transporters SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Type 2 diabetes mellitusEnrichmentGCK, HNF1A, HNF1B, HNF4A, INSR, NEUROD1, PDX1, SLC2A216.00
2Maturity-onset diabetes of the youngEnrichmentGCK, HNF1A, HNF1B, HNF4A, INS, NEUROD1, PDX116.00
3Maturity-onset diabetes of the young, type 3EnrichmentGCK, HNF1A, HNF4A6.70
4Permanent neonatal diabetes mellitusEnrichmentGCK, INS, PDX15.56
5Diabetes mellitusEnrichmentGCK, HNF1A, INS5.09
6Maturity-onset diabetes of the young, type 1EnrichmentGCK, HNF4A4.86
7Hyperinsulinism due to hnf1a deficiencyEnrichmentHNF1A, HNF4A4.86
8Cholestasis, progressive familial intrahepatic, 3EnrichmentABCB11, ABCB44.54
9Cholestasis, intrahepatic, of pregnancy 3EnrichmentABCB11, ABCB44.54
10Intrahepatic cholestasisEnrichmentABCB11, ABCB44.54
11Chromophobe renal cell carcinomaEnrichmentHNF1A, HNF1B4.38
12Bartter syndrome type 4EnrichmentCLCNKA, CLCNKB4.07
13Intrahepatic cholestasis of pregnancyEnrichmentABCB11, ABCB43.77
14Bartter syndrome, type 4b, neonatal, with sensorineural deafnessEnrichmentCLCNKA, CLCNKB3.77
15Type 1 diabetes mellitusEnrichmentHNF1A, INS3.69
16Progressive familial intrahepatic cholestasisEnrichmentABCB11, ABCB43.23
17Alternating hemiplegia of childhoodEnrichmentATP1A2, ATP1A33.11
18EpilepsyEnrichmentATP1A2, ATP1A3, KCNT12.89
19Renal cell carcinoma, nonpapillaryEnrichmentHNF1A, HNF1B2.85
20Hepatic adenomas, familialEnrichmentHNF1A2.42
21Thyrotoxic periodic paralysis 1EnrichmentCACNA1S2.42
22Pancreatic agenesis 1EnrichmentPDX12.42
23Donohue syndromeEnrichmentINSR2.42
24Hyperinsulinemic hypoglycemia, familial, 5EnrichmentINSR2.42
25Maturity-onset diabetes of the young, type 4EnrichmentPDX12.42
26Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalitiesEnrichmentINSR2.42
27Cone dystrophy with supernormal rod responsesEnrichmentKCNV22.42
28Diabetes mellitus, insulin-resistant, with acanthosis nigricansEnrichmentINSR2.42
29Scalp-ear-nipple syndromeEnrichmentKCTD12.42
30Maturity-onset diabetes of the young, type 6EnrichmentNEUROD12.42
31Maturity-onset diabetes of the young, type 2EnrichmentGCK2.42
32Prostate cancer, hereditary, 11EnrichmentHNF1B2.42
33Fanconi renotubular syndrome 4 with maturity-onset diabetes of the youngEnrichmentHNF4A2.42
34Congenital myopathy 18EnrichmentCACNA1S2.42
35Spermatogenic failure 79EnrichmentKCNU12.42
36Primary aldosteronism, seizures, and neurologic abnormalitiesEnrichmentCACNA1D2.42
37Hyperinsulinemic hypoglycemia, familial, 3EnrichmentGCK2.42
38Brugada syndrome 3EnrichmentCACNA1C2.42
39Malignant hyperthermia 5EnrichmentCACNA1S2.42
40Sinoatrial node dysfunction and deafnessEnrichmentCACNA1D2.42
41Pulmonary hypertension, primary, 4EnrichmentKCNK32.42
42Type 1 diabetes mellitus 20EnrichmentHNF1A2.42
43Developmental and epileptic encephalopathy 57EnrichmentKCNT22.42
44Progressive myoclonus epilepsy 3EnrichmentKCTD72.42
45Non-acquired combined pituitary hormone deficiencyEnrichmentFOXA22.42
46Gestational diabetesEnrichmentGCK2.42
47Hyperinsulinism due to hnf4a deficiencyEnrichmentHNF4A2.42
48Atypical timothy syndromeEnrichmentCACNA1C2.42
49Aldosterone-producing adenoma with seizures and neurological abnormalitiesEnrichmentCACNA1D2.42
50Timothy syndrome type 2EnrichmentCACNA1C2.42
51Medullary sponge kidneyEnrichmentHNF1B2.42
52Periodic paralysis with transient compartment-like syndromeEnrichmentCACNA1S2.42
53Renal dysplasia, bilateralEnrichmentHNF1B2.42
54Unilateral multicystic dysplastic kidneyEnrichmentHNF1B2.42
55Renal dysplasia, unilateralEnrichmentHNF1B2.42
56Timothy syndrome type 1EnrichmentCACNA1C2.42
57Cone dystrophy with supernormal rod responseEnrichmentKCNV22.42
58Cacna1c-related disordersEnrichmentCACNA1C2.42
59Osteopetrosis, autosomal dominant 2EnrichmentCLCN72.27
60Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing lossEnrichmentATP1A32.27
61Colchicine resistanceEnrichmentABCB12.27
62Alternating hemiplegia of childhood 2EnrichmentATP1A32.27
63Gallbladder disease 1EnrichmentABCB42.27
64Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic faciesEnrichmentATP1A22.27
65Neurodevelopmental disorder with seizures and brain abnormalitiesEnrichmentCLCN32.27
66Deafness, autosomal recessive 103EnrichmentCLIC52.27
67Developmental and epileptic encephalopathy 99EnrichmentATP1A32.27
68Hypopigmentation, organomegaly, and delayed myelination and developmentEnrichmentCLCN72.27
69Encephalopathy, acute transientEnrichmentABCB12.27
70Raynaud-claes syndromeEnrichmentCLCN42.27
71Hypercholanemia, familial, 2EnrichmentSLC10A12.27
72Inflammatory bowel disease 13EnrichmentABCB12.27
73Epilepsy, idiopathic generalized 11EnrichmentCLCN22.27
74Short qt syndrome 7EnrichmentSLC4A32.27
75Developmental and epileptic encephalopathy 98EnrichmentATP1A22.27
76Ceroid lipofuscinosis, neuronal, 15EnrichmentCLCN62.27
77Neurodevelopmental disorder with hypotonia and brain abnormalitiesEnrichmentCLCN32.27
78Atp1a3-related disorderEnrichmentATP1A32.27
79Oculogyric crisisEnrichmentATP1A32.27
80HemiplegiaEnrichmentATP1A32.27
81X-linked intellectual disability-cardiomegaly-congestive heart failure syndromeEnrichmentCLIC22.27
82Long qt syndrome 1EnrichmentCACNA1C, SLC2A22.25
83Long qt syndromeEnrichmentCACNA1C, CACNA1S2.22
84Tubulointerstitial kidney disease, autosomal dominant 1EnrichmentHNF1B2.12
85Renal cysts and diabetes syndromeEnrichmentHNF1B2.12
86Congenital anomalies of kidney and urinary tract 2EnrichmentHNF1B2.12
87Pancreas, dorsal, agenesis ofEnrichmentPDX12.12
88Fanconi-bickel syndromeEnrichmentSLC2A22.12
89Timothy syndromeEnrichmentCACNA1C2.12
90Hyperinsulinemic hypoglycemia, familial, 4EnrichmentINSR2.12
91Diabetes mellitus, permanent neonatal, 1EnrichmentGCK2.12
92Birk-barel syndromeEnrichmentKCNK92.12
93Bone marrow failure syndrome 2EnrichmentGCK2.12
94Maturity-onset diabetes of the young, type 10EnrichmentINS2.12
95Epilepsy, nocturnal frontal lobe, 5EnrichmentKCNT12.12
96Developmental and epileptic encephalopathy 15EnrichmentKCNT12.12
97Long qt syndrome 8EnrichmentCACNA1C2.12
98HyperproinsulinemiaEnrichmentINS2.12
99Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndromeEnrichmentKCNK42.12
100Hyperuricemic nephropathy, familial juvenile, 3EnrichmentHNF1B2.12
101Diabetes mellitus, permanent neonatal, 4EnrichmentINS2.12
102Congenital disorder of glycosylation, type iw, autosomal dominantEnrichmentCACNA1D2.12
103Epilepsy, progressive myoclonic, 3, with or without intracellular inclusionsEnrichmentKCTD72.12
104Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movementsEnrichmentCACNA1B2.12
105Malignant migrating partial seizures of infancyEnrichmentKCNT12.12
106HyperinsulinismEnrichmentHNF4A2.12
107Seizures, benign familial neonatal, 1EnrichmentATP1A31.97
108Batten-turner congenital myopathyEnrichmentCLCN11.97
109Dent disease 1EnrichmentCLCN51.97
110Migraine, familial hemiplegic, 2EnrichmentATP1A21.97
111Bartter syndrome, type 3EnrichmentCLCNKB1.97
112Hyperaldosteronism, familial, type iiEnrichmentCLCN21.97
113Osteopetrosis, autosomal recessive 4EnrichmentCLCN71.97
114Nephrolithiasis, x-linked recessive, with renal failureEnrichmentCLCN51.97
115Alternating hemiplegia of childhood 1EnrichmentATP1A21.97
116Cholestasis, benign recurrent intrahepatic, 2EnrichmentABCB111.97
117Cholestasis, progressive familial intrahepatic, 4EnrichmentABCB111.97
118Leukoencephalopathy with ataxiaEnrichmentCLCN21.97
119Cholestasis, progressive familial intrahepatic, 2EnrichmentABCB111.97
120Hypophosphatemic rickets, x-linked recessiveEnrichmentCLCN51.97
121Charcot-marie-tooth disease, axonal, type 2ddEnrichmentATP1A11.97
122Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosisEnrichmentCLCN51.97
123Familial hemiplegic migraineEnrichmentATP1A21.97
124Neurogenic bladderEnrichmentCLCN61.97
125Hypomagnesemia, seizures, and impaired intellectual development 2EnrichmentATP1A11.97
126Respiratory system diseaseEnrichmentCLCN61.97
127Clcn2-related leukoencephalopathyEnrichmentCLCN21.97
128OsteosclerosisEnrichmentCLCN71.97
129Type 1 diabetes mellitus 2EnrichmentINS1.95
130Nijmegen breakage syndromeEnrichmentGCK1.95
131Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomaliesEnrichmentHNF1B1.95
132Epilepsy, nocturnal frontal lobe, 1EnrichmentKCNT11.95
133Chromosome 17q12 deletion syndromeEnrichmentHNF1B1.95
134Keratoderma-ichthyosis-deafness syndrome, autosomal recessiveEnrichmentHNF1A1.95
135Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizuresEnrichmentCACNA1C1.95
136Ciliary dyskinesia, primary, 28EnrichmentKCNT11.95
137Gingival overgrowthEnrichmentKCNK41.95
138Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R1.95
139Thyrotoxic periodic paralysisEnrichmentCACNA1S1.95
140Ventricular fibrillation, paroxysmal familial, 1EnrichmentCACNA1C1.83
141Neonatal diabetes mellitusEnrichmentINS1.83
142Malignant hyperthermiaEnrichmentCACNA1S1.83
143Clear cell papillary renal cell carcinomaEnrichmentHNF1A1.83
144Dystonia 12EnrichmentATP1A31.79
145Myotonia congenita, autosomal dominantEnrichmentCLCN11.79
146Dubin-johnson syndromeEnrichmentABCC21.79
147Myotonia congenita, autosomal recessiveEnrichmentCLCN11.79
148Hyperbilirubinemia, rotor typeEnrichmentSLCO1B11.79
149Osteopetrosis, autosomal dominant 1EnrichmentCLCNKB1.79
150Dent diseaseEnrichmentCLCN51.79
151Osteopetrosis, autosomal recessive 6EnrichmentCLCN71.79
152Cerebral palsyEnrichmentCLCN1, CLCN21.73
153Insulin-like growth factor iEnrichmentIGF1R1.73
154Heart conduction diseaseEnrichmentCACNA1C1.73
155Hypophosphatemic rickets, x-linked dominantEnrichmentCLCN51.67
156Smith-lemli-opitz syndromeEnrichmentCLCN11.67
157Hyperkalemic periodic paralysisEnrichmentCLCN11.67
158Autosomal recessive osteopetrosisEnrichmentCLCN71.67
159Familial or sporadic hemiplegic migraineEnrichmentATP1A21.67
160Hypokalemic periodic paralysis, type 1EnrichmentCACNA1S1.65
161Hyperinsulinemic hypoglycemia, familial, 1EnrichmentGCK1.65
162Clear cell renal cell carcinomaEnrichmentHNF1A1.65
16346,xy disorder of sex developmentEnrichmentINSR1.65
164Nonsyndromic genetic hyperinsulinismEnrichmentGCK1.65
165Autosomal dominant sleep-related hypermotor epilepsyEnrichmentKCNT11.58
166Gitelman syndromeEnrichmentCLCNKB1.57
167OsteopetrosisEnrichmentCLCN71.57
168Congenital short qt syndromeEnrichmentSLC4A31.57
169Combined pituitary hormone deficiencyEnrichmentFOXA21.53
170Cholestasis, progressive familial intrahepatic, 1EnrichmentABCB41.50
171Metachromatic leukodystrophyEnrichmentCLCN11.50
172Pseudoxanthoma elasticumEnrichmentABCC21.50
173Familial hypercholanemiaEnrichmentSLC10A11.50
174Developmental and epileptic encephalopathy 14EnrichmentKCNT11.48
175Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentCACNA1C1.48
176Undetermined early-onset epileptic encephalopathyEnrichmentATP1A2, ATP1A31.44
177Progressive myoclonus epilepsyEnrichmentKCTD71.43
178Epilepsy, familial focal, with variable foci 1EnrichmentCLCNKB1.43
179Bartter diseaseEnrichmentCLCNKB1.43
180Heritable pulmonary arterial hypertensionEnrichmentKCNK31.39
181Cardiac conduction defectEnrichmentCACNA1C1.35
182Digeorge syndromeEnrichmentHNF1A1.35
183Congenital long qt syndromeEnrichmentSLC2A21.35
184Deafness, autosomal recessiveEnrichmentCLCNKA, CLIC51.34
185Autosomal recessive nonsyndromic deafnessEnrichmentCLCNKA, CLIC51.33
186Pulmonary hypertension, primary, 1EnrichmentKCNK31.32
187Nk-cell enteropathyEnrichmentIGF1R1.32
188Myoclonic epilepsy of unverricht and lundborgEnrichmentKCTD71.29
189Cone-rod dystrophy 6EnrichmentKCNV21.29
190PolymicrogyriaEnrichmentATP1A21.28
191Neuronal ceroid lipofuscinosisEnrichmentKCTD71.26
192Ovarian cancerEnrichmentHNF1A, HNF1B1.26
193Migraine with or without aura 1EnrichmentCLCN11.24
194Gilbert syndromeEnrichmentSLCO1B11.24
195Epilepsy, myoclonic juvenileEnrichmentCLCN21.24
196Epilepsy, idiopathic generalizedEnrichmentABCB11.24
197Movement diseaseEnrichmentCLCN61.24
198Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentKCTD31.23
199Polycystic liver diseaseEnrichmentHNF4A1.21
200Autosomal dominant polycystic liver diseaseEnrichmentHNF4A1.21
201EpicanthusEnrichmentATP1A31.20
202Congenital myopathyEnrichmentCACNA1S1.16
203Centronuclear myopathyEnrichmentCACNA1S1.12
204Hydrocephalus, congenital, 1EnrichmentATP1A31.08
205Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentCLCNKA, CLIC51.08
206Cardiomyopathy, familial hypertrophic, 1EnrichmentCACNA1C1.06
207Cone dystrophyEnrichmentKCNV21.06
208Hypertension, essentialEnrichmentATP1B11.06
209Brugada syndromeEnrichmentCACNA1C1.03
210Prostate cancerEnrichmentHNF1B0.98
211Stargardt disease 1EnrichmentKCNV20.97
212Myocardial infarctionEnrichmentCLCN10.95
213Skin diseaseEnrichmentCLCN60.95
214CakutEnrichmentHNF1B0.92
215RasopathyEnrichmentCLCN10.88
216Benign epilepsy with centrotemporal spikesEnrichmentKCNT10.84
217Centralopathic epilepsyEnrichmentKCNT10.82
218Cystic fibrosisEnrichmentCLCA40.80
219DystoniaEnrichmentATP1A30.76
220Non-syndromic x-linked intellectual disabilityEnrichmentCLCN40.75
221MyopathyEnrichmentCLCN10.71
222Nephrotic syndromeEnrichmentCLCN50.68
223Cone-rod dystrophy 2EnrichmentKCNV20.65
224Sensorineural hearing lossEnrichmentCLCNKA0.64
225Breast cancerEnrichmentHNF1A0.61
226Spastic ataxiaEnrichmentATP1A20.60
227Hereditary retinal dystrophyEnrichmentKCNV2, NEUROD10.53
228Fundus dystrophyEnrichmentKCNV2, NEUROD10.53
229Congenital nervous system abnormalityEnrichmentKCNV20.48
230Nervous system diseaseEnrichmentKCNV20.48
231MicrocephalyEnrichmentIGF1R0.43
232Complex neurodevelopmental disorderEnrichmentCACNA1C0.43

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