Vitamin A and carotenoid metabolism

No Pathway Network information available for Vitamin A and carotenoid metabolism

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

Disorders associated with Vitamin A and carotenoid metabolism SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Eye diseaseEnrichmentLRAT, RBP4, RDH12, RLBP1, RPE657.17
2Gallbladder disease 4EnrichmentABCG5, ABCG85.03
3Sitosterolemia 1EnrichmentABCG5, ABCG84.55
4SitosterolemiaEnrichmentABCG5, ABCG84.55
5MicrophthalmiaEnrichmentALDH1A3, RARB, RBP44.39
6Stargardt disease 1EnrichmentLRAT, RDH12, RPE653.98
7Lipid metabolism disorderEnrichmentABCG5, ABCG83.86
8Fundus albipunctatusEnrichmentRDH5, RLBP13.71
9Hereditary retinal dystrophyEnrichmentLRAT, RBP4, RDH12, RDH5, RLBP1, RPE653.60
10Fundus dystrophyEnrichmentLRAT, RBP4, RDH12, RDH5, RLBP1, RPE653.60
11Homozygous familial hypercholesterolemiaEnrichmentABCG5, ABCG83.59
12Coronary heart disease 5EnrichmentABCG5, ABCG83.48
13Retinitis pigmentosaEnrichmentLRAT, RDH12, RDH5, RLBP1, RPE653.33
14Microphthalmia/coloboma 12EnrichmentRARB, RBP43.15
15Coloboma of maculaEnrichmentRARB, RBP43.02
16Macs syndromeEnrichmentALDH1A3, RBP42.77
17Hypercarotenemia and vitamin a deficiency, autosomal dominantEnrichmentBCO12.51
18Coronary heart disease 7EnrichmentCD362.51
19High density lipoprotein cholesterol level quantitative trait locus 6EnrichmentSCARB12.51
20Bothnia retinal dystrophyEnrichmentRLBP12.51
21Newfoundland rod-cone dystrophyEnrichmentRLBP12.51
22Microphthalmia/coloboma 10EnrichmentRBP42.51
23Leber congenital amaurosis 2EnrichmentRPE652.51
24Noonan syndrome 13EnrichmentMAPK12.51
25Retinitis pigmentosa 87 with choroidal involvementEnrichmentRPE652.51
26Ichthyosis, congenital, autosomal recessive 14EnrichmentSULT2B12.51
27Diaphragmatic hernia 4, with cardiovascular defectsEnrichmentALDH1A22.51
28Platelet glycoprotein iv deficiencyEnrichmentCD362.51
29Radiohumeral fusions with other skeletal and craniofacial anomaliesEnrichmentCYP26B12.51
30Microphthalmia, syndromic 12EnrichmentRARB2.51
31Retinitis pigmentosa 20EnrichmentRPE652.51
32Low density lipoprotein cholesterol level quantitative trait locus 7EnrichmentNPC1L12.51
33Lethal occipital encephalocele-skeletal dysplasia syndromeEnrichmentCYP26B12.51
34Hereditary hypercarotenemia and vitamin a deficiencyEnrichmentBCO12.51
35Stargardt disease 5EnrichmentRDH82.51
36Leber plus diseaseEnrichmentLRAT, RDH12, RPE652.50
37Hyperlipoproteinemia, type iEnrichmentLPL2.21
38Lipase deficiency, combinedEnrichmentLPL2.21
39Retinal dystrophy, iris coloboma, and comedogenic acne syndromeEnrichmentRBP42.21
40Acth deficiency, isolatedEnrichmentRPE652.21
41Intellectual developmental disorder, autosomal dominant 48EnrichmentRARB2.21
42Sitosterolemia 2EnrichmentABCG52.21
43Microphthalmia, isolated 8EnrichmentALDH1A32.21
44Short-rib thoracic dysplasia 15 with polydactylyEnrichmentABCG52.21
45Familial lipoprotein lipase deficiencyEnrichmentLPL2.21
46Leber congenital amaurosis 14EnrichmentLRAT2.21
47Progressive retinal dystrophy due to retinol transport defectEnrichmentRBP42.21
48Congenital isolated adrenocorticotropic hormone deficiencyEnrichmentRPE652.21
49Hyperalphalipoproteinemia 1EnrichmentSCARB12.03
50Ichthyosis, congenital, autosomal recessive 1EnrichmentSULT2B12.03
51Leber congenital amaurosis 13EnrichmentRDH122.03
52Isolated anophthalmia-microphthalmia syndromeEnrichmentALDH1A32.03
53Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.91
54Macular dystrophy with or without cone dysfunctionEnrichmentRDH121.91
55Blood platelet diseaseEnrichmentCD361.91
56Coronary artery anomalyEnrichmentLPL1.91
57Cerebral malariaEnrichmentCD361.91
58Hyperlipidemia, familial combined, 3EnrichmentLPL1.81
59Ichthyosis, congenital, autosomal recessive 2EnrichmentSULT2B11.81
60AutismEnrichmentALDH1A3, RPE651.68
61Mitochondrial dna depletion syndrome 4aEnrichmentRLBP11.67
62Retinal degenerationEnrichmentRPE651.67
63Leber congenital amaurosis 1EnrichmentLRAT1.61
64Congenital nonbullous ichthyosiform erythrodermaEnrichmentSULT2B11.52
65NanophthalmosEnrichmentALDH1A31.47
66Specific learning disabilityEnrichmentMAPK11.47
67Acute promyelocytic leukemiaEnrichmentRARA1.40
68Anterior segment dysgenesisEnrichmentRBP41.34
69Autosomal recessive congenital ichthyosisEnrichmentSULT2B11.34
70Heart, malformation ofEnrichmentMAPK11.27
71Cardiomyopathy, dilated, 1aEnrichmentLPL1.20
72MalariaEnrichmentCD361.16
73Congenital stationary night blindnessEnrichmentRDH51.16
74Short-rib thoracic dysplasia 1 with or without polydactylyEnrichmentABCG51.01
75Optic atrophy plus syndromeEnrichmentRDH50.89
76Myeloma, multipleEnrichmentRXRA0.80
77Cone-rod dystrophy 2EnrichmentRDH120.72
78MicrocephalyEnrichmentMAPK10.50

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