Aquaporin-mediated transport

Pathway network for the Aquaporin-mediated transport SuperPath

Sources:
  • Reactome

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

Disorders associated with Aquaporin-mediated transport SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS, PRKAR1A5.01
2Nephrogenic diabetes insipidusEnrichmentAQP2, AVPR24.53
3Diabetes insipidusEnrichmentAQP2, AVP4.23
4Glycerol quantitative trait locusEnrichmentAQP73.83
5Ellis-van creveld syndromeEnrichmentPRKACA, PRKACB3.46
6Body mass index quantitative trait locus 11EnrichmentADCY3, AQP7, GNAS3.04
7Blood group, colton systemEnrichmentAQP13.02
8Cataract 15, multiple typesEnrichmentMIP3.02
9Megalencephalic leukoencephalopathy with subcortical cysts 4, remittingEnrichmentAQP43.02
10Palmoplantar keratoderma, bothnian typeEnrichmentAQP52.72
11Diabetes insipidus, nephrogenic, 2, autosomalEnrichmentAQP22.72
12Diabetes insipidus, neurohypophysealEnrichmentAVP2.50
13Acrodysostosis 1 with or without hormone resistanceEnrichmentPRKAR1A2.50
14Nephrogenic syndrome of inappropriate antidiuresisEnrichmentAVPR22.50
15Diabetes insipidus, nephrogenic, 1, x-linkedEnrichmentAVPR22.50
16Pseudohypoparathyroidism, type icEnrichmentGNAS2.50
17Carney complex, type 1EnrichmentPRKAR1A2.50
18Osseous heteroplasia, progressiveEnrichmentGNAS2.50
19Dyskinesia with orofacial involvement, autosomal dominantEnrichmentADCY52.50
20Deafness, autosomal recessive 44EnrichmentADCY12.50
21Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS2.50
22Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB22.50
23Neurodevelopmental disorder with hyperkinetic movements and dyskinesiaEnrichmentADCY52.50
24Pituitary adenoma 3, multiple typesEnrichmentGNAS2.50
25Cardioacrofacial dysplasia 2EnrichmentPRKACB2.50
26Central diabetes insipidusEnrichmentAVP2.50
27Myxoma, intracardiacEnrichmentPRKAR1A2.50
28X-linked nephrogenic diabetes insipidusEnrichmentAVPR22.50
29Dyskinesia with orofacial involvement, autosomal recessiveEnrichmentADCY52.50
30Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB52.50
31Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA2.50
32Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB42.50
33Disorders of gnas inactivationEnrichmentGNAS2.50
34Cardioacrofacial dysplasia 1EnrichmentPRKACA2.50
35Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB12.50
36Sick sinus syndrome 4EnrichmentGNB22.50
37Prkar1b-related neurodegenerative dementia with intermediate filamentsEnrichmentPRKAR1B2.50
38Monostotic fibrous dysplasiaEnrichmentGNAS2.50
39Mazabraud syndromeEnrichmentGNAS2.50
40Hereditary arginine vasopressin deficiencyEnrichmentAVP2.50
41Congenital blue dot cataractEnrichmentMIP2.42
42Persistent hyperplastic primary vitreousEnrichmentMIP2.32
43Early-onset sutural cataractEnrichmentMIP2.24
44Pseudohypoparathyroidism, type iaEnrichmentGNAS2.20
45Amelogenesis imperfecta, type igEnrichmentPRKAR1A2.20
46Diarrhea 2, with microvillus atrophy, with or without cholestasisEnrichmentMYO5B2.20
47PseudopseudohypoparathyroidismEnrichmentGNAS2.20
48Lethal congenital contracture syndrome 8EnrichmentADCY62.20
49Bleeding disorder, platelet-type, 19EnrichmentPRKACG2.20
50Night blindness, congenital stationary, type 1hEnrichmentGNB32.20
51Marbach-schaaf neurodevelopmental syndromeEnrichmentPRKAR1B2.20
52Cholestasis, progressive familial intrahepatic, 10EnrichmentMYO5B2.20
53Usher syndrome, type ivEnrichmentPRKAR1A2.20
54AcrodysostosisEnrichmentPRKAR1A2.20
55PseudohypoparathyroidismEnrichmentGNAS2.20
56Body mass index quantitative trait locus 19EnrichmentADCY32.20
57Fibrolamellar carcinomaEnrichmentPRKACA2.20
58Ciliary dyskinesia, primary, 18EnrichmentPRKAR1B2.20
59Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB52.20
60Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPRKAR1A2.20
61Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS2.20
62Cerebral visual impairmentEnrichmentGNB12.20
63Early-onset posterior polar cataractEnrichmentMIP2.12
64Mccune-albright syndromeEnrichmentGNAS2.02
65Microvillus inclusion diseaseEnrichmentMYO5B2.02
66Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS2.02
67Hypomyelination neuropathy-arthrogryposis syndromeEnrichmentADCY62.02
68Early-onset lamellar cataractEnrichmentMIP1.98
69Autosomal dominant non-syndromic intellectual disabilityEnrichmentGNB1, RAB11A1.96
70Chorea, benign hereditaryEnrichmentADCY51.90
71Spastic paraplegia 17, autosomal dominantEnrichmentGNG31.90
72Pseudohypoparathyroidism, type ibEnrichmentGNAS1.90
73Lipodystrophy, congenital generalized, type 2EnrichmentGNG31.90
74Carney complex variantEnrichmentPRKAR1A1.90
75Arrhythmogenic right ventricular dysplasia, familial, 10EnrichmentPRKAR1A1.90
76Familial sick sinus syndromeEnrichmentGNB21.90
77Cataract 44EnrichmentMIP1.79
78Early-onset nuclear cataractEnrichmentMIP1.77
79Cholestasis, progressive familial intrahepatic, 1EnrichmentMYO5B1.72
80Adrenocortical carcinomaEnrichmentPRKAR1A1.72
81BrachydactylyEnrichmentGNAS1.66
82Spastic paraplegia 4, autosomal dominantEnrichmentGNAS1.60
83HypothyroidismEnrichmentGNB11.60
84Inflammatory bowel disease 1EnrichmentMYO5B1.55
85Primary hyperaldosteronismEnrichmentGNAS1.55
86Leukemia, acute lymphoblasticEnrichmentGNB11.46
87Myelodysplastic syndromeEnrichmentGNB11.46
88Acute promyelocytic leukemiaEnrichmentPRKAR1A1.39
89Isolated congenital microcephalyEnrichmentRAB11A1.30
90Hypertension, essentialEnrichmentGNB31.28
91Cleft palate, isolatedEnrichmentGNB11.28
92Attention deficit-hyperactivity disorderEnrichmentGNB51.17
93Congenital stationary night blindnessEnrichmentGNB31.15
94StrabismusEnrichmentGNB11.08
95DystoniaEnrichmentGNB10.98
96Cerebral palsyEnrichmentGNB10.93
97Breast cancerEnrichmentGNG30.67
98Primary ciliary dyskinesiaEnrichmentPRKAR1B0.67
99Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentADCY10.61
100Congenital nervous system abnormalityEnrichmentGNB50.54
101Nervous system diseaseEnrichmentGNB50.54
102Autism spectrum disorderEnrichmentGNB10.53
103MicrocephalyEnrichmentGNB10.49
104Complex neurodevelopmental disorderEnrichmentGNB20.49
105Inherited cancer-predisposing syndromeEnrichmentPRKAR1A0.46

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