Vitamin D receptor pathway

No Pathway Network information available for Vitamin D receptor pathway

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

Disorders associated with Vitamin D receptor pathway SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Systemic lupus erythematosusEnrichmentCTLA4, HLA-DRB1, IRF5, ITGAM, SPP1, TNFAIP3, TNFSF46.08
2Multiple endocrine neoplasia, type iEnrichmentCDKN1A, CDKN1B, CDKN2B, CDKN2C5.94
3Tumoral calcinosis, hyperphosphatemic, familial, 1EnrichmentFGF23, KL3.26
4High-grade b-cell lymphoma double-hit/triple-hitEnrichmentBCL6, MYC3.26
5Adult-onset myasthenia gravisEnrichmentCTLA4, HLA-DQA13.26
6Primary hyperparathyroidismEnrichmentCDKN1B, PTH2.96
7Follicular lymphomaEnrichmentBCL6, HLA-DRB12.74
8Diffuse cutaneous systemic sclerosisEnrichmentHLA-DRB1, IRF52.74
9Atrial septal defect 1EnrichmentTGFB2, TPM12.57
10Limited sclerodermaEnrichmentHLA-DRB1, IRF52.57
11Narcolepsy 1EnrichmentHLA-DRB1, TNFSF42.31
12Primary biliary cholangitisEnrichmentIL12A, IRF52.20
13Lymphatic malformation 5EnrichmentEPHB41.87
14Cardiomyopathy, familial hypertrophic, 3EnrichmentTPM11.87
15Hepatic adenomas, familialEnrichmentHNF1A1.87
16Endosteal hyperostosis, autosomal dominantEnrichmentLRP51.87
17High molecular weight kininogen deficiencyEnrichmentKNG11.87
18Pulmonary alveolar microlithiasisEnrichmentSLC34A21.87
19Pulmonary atresia with intact ventricular septumEnrichmentTPM11.87
20Bone mineral density quantitative trait locus 1EnrichmentLRP51.87
21Exudative vitreoretinopathy 4EnrichmentLRP51.87
22Systemic lupus erythematosus 6EnrichmentITGAM1.87
23Skin/hair/eye pigmentation, variation in, 8EnrichmentIRF41.87
24Celiac disease 3EnrichmentCTLA41.87
25Hemolytic uremic syndrome, atypical 6EnrichmentTHBD1.87
26Colchicine resistanceEnrichmentABCB11.87
27Ivic syndromeEnrichmentSALL41.87
28Hypoadrenocorticism, familialEnrichmentABCD11.87
29Ichthyosis, congenital, autosomal recessive 12EnrichmentCASP141.87
30Immunodeficiency 32aEnrichmentIRF81.87
31Immunodeficiency 64 with lymphoproliferationEnrichmentRASGRP11.87
32Intellectual developmental disorder, autosomal dominant 66EnrichmentATP2B11.87
33Developmental delay with dysmorphic facies and dental anomaliesEnrichmentSATB11.87
34Myasthenic syndrome, congenital, 19EnrichmentCOL13A11.87
35Tumoral calcinosis, hyperphosphatemic, familial, 3EnrichmentKL1.87
36Immunodeficiency 131EnrichmentIRF41.87
37Ectodermal dysplasia 15, hypohidrotic/hair typeEnrichmentCST61.87
38Encephalopathy, acute transientEnrichmentABCB11.87
39HyperhomocysteinemiaEnrichmentCBS1.87
40Azoospermia, obstructive, with nephrolithiasisEnrichmentCLDN21.87
41Angioedema, hereditary, 6EnrichmentKNG11.87
42Type 1 diabetes mellitus 12EnrichmentCTLA41.87
43Osteoporosis-pseudoglioma syndromeEnrichmentLRP51.87
44Pulmonary alveolar proteinosis, acquiredEnrichmentHLA-DRB11.87
45White sponge nevus 2EnrichmentKRT131.87
46Systemic lupus erythematosus 10EnrichmentIRF51.87
47Camurati-engelmann disease 2EnrichmentTGFB21.87
48Inflammatory bowel disease 13EnrichmentABCB11.87
49Polycystic liver disease 4 with or without kidney cystsEnrichmentLRP51.87
50Immunodeficiency with hyper-igm, type 3EnrichmentCD401.87
51Celiac disease 4EnrichmentMYO9B1.87
52Drug metabolism, poor, cyp2d6-relatedEnrichmentCYP2D61.87
53Neuroendocrine tumorEnrichmentCDKN1B1.87
54Agammaglobulinemia 5, autosomal dominantEnrichmentLRRC8A1.87
55Efavirenz, poor metabolism ofEnrichmentCYP2B61.87
56Iron overloadEnrichmentBMP61.87
57Thrombophilia due to thrombomodulin defectEnrichmentTHBD1.87
58HyperparathyroidismEnrichmentTRPV61.87
59Hypotrichosis 13EnrichmentKRT711.87
60Brachydactyly, type e2EnrichmentPTHLH1.87
61EncephalitisEnrichmentABCD11.87
62Type 1 diabetes mellitus 20EnrichmentHNF1A1.87
63Inflammatory bowel disease 14EnrichmentIRF51.87
64Tumoral calcinosis, hyperphosphatemic, familial, 2EnrichmentFGF231.87
65Congenital anomalies of kidney and urinary tract 3EnrichmentNRIP11.87
66Vitamin d-dependent rickets, type 3EnrichmentCYP3A41.87
67Developmental and epileptic encephalopathy 68EnrichmentTRAK11.87
68Hyperparathyroidism, transient neonatalEnrichmentTRPV61.87
69Den hoed-de boer-voisin syndromeEnrichmentSATB11.87
70Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiencyEnrichmentCYP7A11.87
71X-linked cerebral adrenoleukodystrophyEnrichmentABCD11.87
72Cdkn2a cancer predispositionEnrichmentCDKN2A1.87
73Familial behcet-like autoinflammatory syndromeEnrichmentTNFAIP31.87
74RicketsEnrichmentVDR1.87
75Lrp5-related primary osteoporosisEnrichmentLRP51.87
76SirenomeliaEnrichmentCDX21.87
77Syndromic recessive x-linked ichthyosisEnrichmentSTS1.87
78Congenital nonspherocytic hemolytic anemiaEnrichmentG6PD1.87
79Immunodeficiency 64EnrichmentRASGRP11.87
80Ebv-induced lymphoproliferative disease due to rasgrp1 deficiencyEnrichmentRASGRP11.87
81Acute myeloid leukemia with mutated cebpaEnrichmentCEBPA1.87
82AtherosclerosisEnrichmentALOX51.87
83Whipple diseaseEnrichmentIRF41.87
84Anorectal malformationEnrichmentCDX21.87
85Sall4-related disordersEnrichmentSALL41.87
86Osteosclerosis-developmental delay-craniosynostosis syndromeEnrichmentLRP51.87
87AdrenomyeloneuropathyEnrichmentABCD11.87
88Alpi-related inflammatory bowel diseaseEnrichmentALPI1.87
89Intellectual disability-acpilepsy-dental anomalies-facial dysmorphism syndromeEnrichmentSATB11.87
90Chronic primary adrenal insufficiencyEnrichmentABCD11.87
91Ephb4-related lymphatic-related hydrops fetalisEnrichmentEPHB41.87
92Vein of galen aneurysmal malformationEnrichmentEPHB41.87
93Multiple sclerosisEnrichmentCYP27B1, HLA-DRB11.82
94Melanoma, cutaneous malignant 1EnrichmentCDKN2A, CDKN2B1.66
95Lymphatic malformation 1EnrichmentEPHB41.57
96Hashimoto thyroiditisEnrichmentCTLA41.57
97Melanoma-astrocytoma syndromeEnrichmentCDKN2A1.57
98Burkitt lymphomaEnrichmentMYC1.57
99Hypoparathyroidism, familial isolated, 1EnrichmentPTH1.57
100Sorsby fundus dystrophyEnrichmentTIMP31.57
101Camurati-engelmann disease 1EnrichmentTGFB11.57
102Celiac disease 1EnrichmentHLA-DQA11.57
103Van buchem diseaseEnrichmentLRP51.57
104Immunodeficiency 32bEnrichmentIRF81.57
105Paget disease of bone 5, juvenile-onsetEnrichmentTNFRSF11B1.57
106Hyperparathyroidism, neonatal severeEnrichmentTRPV61.57
107Intracranial hypertension, idiopathicEnrichmentEPHB41.57
108Spondyloepimetaphyseal dysplasia, x-linkedEnrichmentABCD11.57
109AdrenoleukodystrophyEnrichmentABCD11.57
110Hyperaldosteronism, familial, type iiEnrichmentSATB11.57
1113mc syndrome 2EnrichmentCOLEC111.57
112Hypercalcemia, infantile, 1EnrichmentCYP24A11.57
113Duane-radial ray syndromeEnrichmentSALL41.57
114Melanoma, cutaneous malignant 2EnrichmentCDKN2A1.57
115Sarcoidosis 1EnrichmentHLA-DRB11.57
116Autoinflammatory syndrome, familial, behcet-like 1EnrichmentTNFAIP31.57
117Osteopetrosis, autosomal recessive 2EnrichmentTNFSF111.57
118Multiple endocrine neoplasia, type ivEnrichmentCDKN1B1.57
119Palmoplantar keratoderma, nonepidermolytic, focal 1EnrichmentKRT161.57
120Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB11.57
121Intravascular large b-cell lymphomaEnrichmentBCL61.57
122Ichthyosis, x-linkedEnrichmentSTS1.57
123Melanoma-pancreatic cancer syndromeEnrichmentCDKN2A1.57
124Camurati-engelmann diseaseEnrichmentTGFB11.57
125Congenital hemolytic anemiaEnrichmentG6PD1.57
126Loeys-dietz syndrome 4EnrichmentTGFB21.57
127Bullous pemphigoidEnrichmentHLA-DRB11.57
128Hereditary lymphedema iEnrichmentEPHB41.57
129Glucosephosphate dehydrogenase deficiencyEnrichmentG6PD1.57
130White sponge nevusEnrichmentKRT131.57
131Autosomal recessive infantile hypercalcemiaEnrichmentCYP24A11.57
132Joint contractures, osteochondromas, and b-cell lymphomaEnrichmentNFATC21.57
133Pediatric multiple sclerosisEnrichmentHLA-DRB11.57
134CaddsEnrichmentABCD11.57
135Hyperinsulinism due to hnf1a deficiencyEnrichmentHNF1A1.57
136Primary mediastinal large b-cell lymphomaEnrichmentBCL61.57
137OsteosclerosisEnrichmentLRP51.57
138Precursor t-cell acute lymphoblastic leukemiaEnrichmentCDKN2A, MYC1.41
139Palmoplantar keratoderma, epidermolytic, 1EnrichmentKRT161.39
140Brachydactyly, type e1EnrichmentPTHLH1.39
141Hypophosphatemic rickets, autosomal dominantEnrichmentFGF231.39
142Homocystinuria due to cystathionine beta-synthase deficiencyEnrichmentCBS1.39
143Mycosis fungoidesEnrichmentCTLA41.39
144Vitamin d hydroxylation-deficient rickets, type 1aEnrichmentCYP27B11.39
145Osteopetrosis, autosomal dominant 1EnrichmentLRP51.39
146Coumarin resistanceEnrichmentCYP2C91.39
147Ehlers-danlos syndrome, kyphoscoliotic type, 1EnrichmentABCD11.39
148Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferationEnrichmentCTLA41.39
149Keratoderma-ichthyosis-deafness syndrome, autosomal recessiveEnrichmentHNF1A1.39
150Familial isolated hypoparathyroidismEnrichmentPTH1.39
151Asparagine synthetase deficiencyEnrichmentCTLA41.39
152Lymphatic malformation 7EnrichmentEPHB41.39
153Capillary malformation-arteriovenous malformation 2EnrichmentEPHB41.39
154Chromophobe renal cell carcinomaEnrichmentHNF1A1.39
155Duane retraction syndromeEnrichmentSALL41.39
156Intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalitiesEnrichmentATP2B11.39
157Plod1-related kyphoscoliotic ehlers-danlos syndromeEnrichmentABCD11.39
158Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndromeEnrichmentCTLA41.39
159HomocystinuriaEnrichmentCBS1.39
160EnchondromatosisEnrichmentHIF1A1.39
161Vogt-koyanagi-harada diseaseEnrichmentHLA-DRB11.39
162Saczary syndromeEnrichmentCTLA41.39
163Myeloma, multipleEnrichmentCCND1, CDKN2C, RXRA1.39
164Tetralogy of fallotEnrichmentEPHB4, TPM11.31
165Pachyonychia congenita 1EnrichmentKRT161.27
166Temporal arteritisEnrichmentHLA-DRB11.27
167Maturity-onset diabetes of the young, type 3EnrichmentHNF1A1.27
168Immunodeficiency, common variable, 1EnrichmentCTLA41.27
169Chondrocalcinosis 2EnrichmentTNFRSF11B1.27
170Bone mineral density quantitative trait locus 15EnrichmentTRPV61.27
171Mantle cell lymphomaEnrichmentCCND11.27
172Retinopathy of prematurityEnrichmentLRP51.27
173Idiopathic achalasiaEnrichmentHLA-DQA11.27
174Autosomal recessive osteopetrosisEnrichmentTNFSF111.27
175Pediatric systemic lupus erythematosusEnrichmentSPP11.27
176Systemic-onset juvenile idiopathic arthritisEnrichmentHLA-DRB11.27
177VitreoretinopathyEnrichmentLRP51.27
178Clear cell papillary renal cell carcinomaEnrichmentHNF1A1.27
179Hereditary angioedema with normal c1inh not related to f12 or plg variantEnrichmentKNG11.27
180Bladder cancerEnrichmentCDKN1A, CDKN2A1.23
181Enchondromatosis, multiple, ollier typeEnrichmentHIF1A1.18
182Exudative vitreoretinopathy 1EnrichmentLRP51.18
183Von hippel-lindau syndromeEnrichmentCCND11.18
184Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentG6PD1.18
185Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negativeEnrichmentSALL41.18
186Vitamin d-dependent rickets, type 2aEnrichmentVDR1.18
187Rhabdomyosarcoma 2EnrichmentFOXO11.18
188Narcolepsy 2EnrichmentHLA-DRB11.18
189Familial woolly hair syndromeEnrichmentKRT711.18
190Inherited acute myeloid leukemiaEnrichmentCEBPA1.18
191Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentCEBPA1.18
192Li-fraumeni syndromeEnrichmentCDKN2A1.10
193Pierre robin syndromeEnrichmentATP2B11.10
194Type 1 diabetes mellitusEnrichmentHNF1A1.10
195Inflammatory bowel disease 25, autosomal recessiveEnrichmentTGFB11.10
196Granulomatosis with polyangiitisEnrichmentCTLA41.10
1973mc syndromeEnrichmentCOLEC111.10
198Adrenocortical carcinomaEnrichmentCDKN2A1.10
199Clear cell renal cell carcinomaEnrichmentHNF1A1.10
200Il10-related early-onset inflammatory bowel diseaseEnrichmentTGFB11.10
201Lung squamous cell carcinomaEnrichmentCDKN2A1.10
202Atypical hemolytic uremic syndrome with complement gene abnormalityEnrichmentTHBD1.10
203Capillary malformation-arteriovenous malformation 1EnrichmentEPHB41.04
204Multiple enchondromatosis, maffucci typeEnrichmentHIF1A1.04
205MegacolonEnrichmentSLC8A11.04
206Hypophosphatemic ricketsEnrichmentFGF231.04
207B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentCDKN2A1.04
208Hemochromatosis, type 1EnrichmentBMP60.98
209Exudative vitreoretinopathyEnrichmentLRP50.98
210MyocarditisEnrichmentABCD10.98
211Type 2 diabetes mellitusEnrichmentHNF1A, SLC2A40.95
212Rheumatoid arthritisEnrichmentIRF50.93
213Inflammatory bowel disease 1EnrichmentPRKCQ0.93
214Coronary heart disease 5EnrichmentG6PD0.93
215Loeys-dietz syndromeEnrichmentTGFB20.93
216Arteriovenous malformationEnrichmentEPHB40.93
217Familial thoracic aortic aneurysm and aortic dissectionEnrichmentCBS, TGFB20.92
218Marfan syndromeEnrichmentTGFB20.89
219Leukemia, chronic lymphocyticEnrichmentCCND10.89
220Myopathy, x-linked, with excessive autophagyEnrichmentEPHB40.89
221MelanomaEnrichmentCDKN2A0.89
222Autosomal non-syndromic agammaglobulinemiaEnrichmentLRRC8A0.89
223AsthmaEnrichmentALOX50.85
224Epilepsy, idiopathic generalizedEnrichmentABCB10.85
225Leukemia, acute lymphoblasticEnrichmentCDKN2A0.85
226Diabetes mellitusEnrichmentHNF1A0.85
227Presynaptic congenital myasthenic syndromesEnrichmentCOL13A10.85
228Digeorge syndromeEnrichmentHNF1A0.82
229Lip and oral cavity carcinomaEnrichmentCDKN2A0.82
230Postsynaptic congenital myasthenic syndromesEnrichmentCOL13A10.82
231Ovarian cancerEnrichmentCDKN1B, CDKN2A, HNF1A0.80
232Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactylyEnrichmentATP2B10.79
233Pulmonary disease, chronic obstructiveEnrichmentVDR0.79
234ClubfootEnrichmentATP2B10.79
235OsteoporosisEnrichmentLRP50.76
236Periventricular nodular heterotopiaEnrichmentATP2B10.76
237Renal cell carcinoma, nonpapillaryEnrichmentHNF1A0.73
238Hypertension, essentialEnrichmentCYP3A50.68
239Pancreatitis, hereditaryEnrichmentTRPV60.68
240Cardiomyopathy, dilated, 1eEnrichmentTPM10.68
241Polycystic liver diseaseEnrichmentLRP50.68
242Autosomal dominant polycystic liver diseaseEnrichmentLRP50.68
243Arteriovenous malformations of the brainEnrichmentTIMP30.64
244Behcet syndromeEnrichmentIL12A0.64
245Diffuse large b-cell lymphomaEnrichmentFOXO10.64
246Esophageal atresia/tracheoesophageal fistulaEnrichmentIRF80.64
247Ehlers-danlos syndromeEnrichmentTGFB20.64
248Maturity-onset diabetes of the youngEnrichmentHNF1A0.62
249Cardiomyopathy, dilated, 1aEnrichmentNFATC20.60
250Hepatocellular carcinomaEnrichmentVDR0.58
251Myocardial infarctionEnrichmentTNFSF40.58
252Inherited cancer-predisposing syndromeEnrichmentCDKN1B, CDKN2A, CEBPA0.57
253Brittle bone disorderEnrichmentLRP50.57
254MalariaEnrichmentG6PD0.57
255Breast cancerEnrichmentCDKN2B, HNF1A0.56
256Cardiomyopathy, familial hypertrophic, 1EnrichmentTPM10.55
257Pancreatic cancerEnrichmentCDKN2A0.54
258Hydrops fetalis, nonimmuneEnrichmentEPHB40.52
259Hirschsprung disease 1EnrichmentABCD10.48
260Non-immune hydrops fetalisEnrichmentEPHB40.46
261Cystic fibrosisEnrichmentTGFB10.45
262Connective tissue diseaseEnrichmentCBS0.45
263Familial hypertrophic cardiomyopathyEnrichmentTPM10.44
264Male infertilityEnrichmentCLDN20.43
265CakutEnrichmentNRIP10.43
266Left ventricular noncompactionEnrichmentTPM10.42
267Leukemia, acute myeloidEnrichmentCEBPA0.37
268Gastric cancerEnrichmentCDKN2A0.35
269Hypertrophic cardiomyopathyEnrichmentTPM10.35
270ThrombocytopeniaEnrichmentTHBD0.32
271Body mass index quantitative trait locus 11EnrichmentCDKAL10.30
272Familial isolated dilated cardiomyopathyEnrichmentTPM10.29
273Hereditary breast ovarian cancer syndromeEnrichmentSLC34A20.28
274Undetermined early-onset epileptic encephalopathyEnrichmentTRAK10.27
275Primary ovarian insufficiencyEnrichmentBMP60.25
276AutismEnrichmentATP2B10.20
277Dilated cardiomyopathyEnrichmentTPM10.18
278Colorectal cancerEnrichmentCCND10.16
279Congenital nervous system abnormalityEnrichmentABCD10.11
280Nervous system diseaseEnrichmentABCD10.11
281Complex neurodevelopmental disorderEnrichmentATP2B10.09
282Hereditary retinal dystrophyEnrichmentLRP5, TIMP30.04
283Fundus dystrophyEnrichmentLRP5, TIMP30.04

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