Nuclear receptors

Pathway network for the Nuclear receptors SuperPath

Sources:
  • WikiPathways
  • Reactome

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

Disorders associated with Nuclear receptors SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
146,xy complete gonadal dysgenesisEnrichmentAR, NR0B1, NR5A15.48
2Hypothyroidism, congenital, nongoitrous, 6EnrichmentNR1D1, THRA4.82
3Nonsyndromic 46,xx testicular disorders/differences of sex developmentEnrichmentNR0B1, NR5A14.12
446,xy disorder of sex developmentEnrichmentNR2F2, NR5A13.94
5Difference of sex developmentEnrichmentAR, NR5A13.88
646,xy partial gonadal dysgenesisEnrichmentNR0B1, NR5A13.17
7Prostate cancer, hereditary, x-linked 3EnrichmentAR2.66
8Androgen insensitivity, partialEnrichmentAR2.66
9Glucocorticoid resistance, generalizedEnrichmentNR3C12.66
1046,xx sex reversal 4EnrichmentNR5A12.66
11Spermatogenic failure 8EnrichmentNR5A12.66
12Chromosome 2q37 deletion syndromeEnrichmentHDAC42.66
13Orofacial cleft 10EnrichmentSUMO12.66
14Progesterone resistanceEnrichmentPGR2.66
15Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancyEnrichmentNR3C22.66
16Premature ovarian failure 7EnrichmentNR5A12.66
17Cholestasis, progressive familial intrahepatic, 5EnrichmentNR1H42.66
18Neurodevelopmental disorder with central hypotonia and dysmorphic faciesEnrichmentHDAC42.66
19Intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonismEnrichmentNR4A22.66
20Pparg-associated congenital generalized lipodystrophyEnrichmentPPARG2.66
21RicketsEnrichmentVDR2.66
22Pseudohyperaldosteronism type 2EnrichmentNR3C22.66
23Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alphaEnrichmentTHRA2.66
24Complete androgen insensitivity syndromeEnrichmentAR2.66
25Resistance to thyroid hormone due to a mutation in thyroid hormone receptor betaEnrichmentTHRB2.66
26Generalized resistance to thyroid hormoneEnrichmentTHRB2.66
27Male infertilityEnrichmentAR, NR5A12.60
28Fanconi renotubular syndrome 4 with maturity-onset diabetes of the youngEnrichmentHNF4A2.55
29Deafness, autosomal recessive 108EnrichmentROR12.55
3046,xy sex reversal 2EnrichmentNR0B12.55
31Adrenal hypoplasia, congenitalEnrichmentNR0B12.55
3246,xx sex reversal 5EnrichmentNR2F22.55
33Immunodeficiency 42EnrichmentRORC2.55
34Ovarian dysgenesis 8EnrichmentESR22.55
35Deafness, autosomal recessive 35EnrichmentESRRB2.55
36Microphthalmia, syndromic 12EnrichmentRARB2.55
37Hyperinsulinism due to hnf4a deficiencyEnrichmentHNF4A2.55
38Epilepsy, idiopathic generalized 15EnrichmentRORB2.41
39Retinitis pigmentosa 37EnrichmentNR2E32.41
40Oculovertebral syndromeEnrichmentNR6A12.41
41Thyroid hormone resistance, selective pituitaryEnrichmentTHRB2.35
42Galactosemia iiEnrichmentNR3C12.35
43Thyroid hormone resistance, generalized, autosomal dominantEnrichmentTHRB2.35
44Spinal and bulbar muscular atrophy, x-linked 1EnrichmentAR2.35
45Carotid intimal medial thickness 1EnrichmentPPARG2.35
46Thyroid hormone resistance, generalized, autosomal recessiveEnrichmentTHRB2.35
47Pseudohypoaldosteronism, type i, autosomal dominantEnrichmentNR3C22.35
4846,xy sex reversal 1EnrichmentAR2.35
49Androgen insensitivity syndromeEnrichmentAR2.35
50Thyroid hormone resistance syndromeEnrichmentTHRB2.35
51Hypospadias 1, x-linkedEnrichmentAR2.35
5246,xy sex reversal 3EnrichmentNR5A12.35
53Intellectual developmental disorder with or without epilepsy or cerebellar ataxiaEnrichmentRORA2.35
54Familial partial lipodystrophyEnrichmentPPARG2.35
55Posterior hypospadiasEnrichmentAR2.35
56Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletionEnrichmentNR4A22.35
57PseudohypoaldosteronismEnrichmentNR3C22.35
58Maturity-onset diabetes of the young, type 1EnrichmentHNF4A2.25
59Intellectual developmental disorder, autosomal dominant 48EnrichmentRARB2.25
60Bosch-boonstra-schaaf optic atrophy syndromeEnrichmentNR2F12.25
61HyperinsulinismEnrichmentHNF4A2.25
62Hyperinsulinism due to hnf1a deficiencyEnrichmentHNF4A2.25
63Type 2 diabetes mellitusEnrichmentHNF4A, PPARG2.21
6446,xx sex reversal 1EnrichmentNR5A12.18
65Estrogen resistanceEnrichmentESR12.18
66Migraine without auraEnrichmentESR12.18
67Gtp cyclohydrolase 1-deficient dopa-responsive dystoniaEnrichmentNR4A22.18
68Myeloma, multipleEnrichmentHDAC4, RXRA2.17
69Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentAR, NR5A12.17
70Enhanced s-cone syndrome 1EnrichmentNR2E32.11
71Enhanced s-cone syndromeEnrichmentNR2E32.11
72Thyroid carcinoma, familial medullaryEnrichmentESR22.08
73Lipodystrophy, familial partial, type 3EnrichmentPPARG2.05
74Spermatogenic failure 1EnrichmentNR5A12.05
75Leptin deficiency or dysfunctionEnrichmentPPARG2.05
76Congenital generalized lipodystrophyEnrichmentPPARG2.05
77Arthrogryposis multiplex congenita 3, myogenic typeEnrichmentESR12.05
78Intrahepatic cholestasis of pregnancyEnrichmentNR1H42.05
79Autism spectrum disorderEnrichmentNR2F1, NR3C2, NR4A22.05
80EpilepsyEnrichmentNR4A2, RORB1.97
81Vitamin d-dependent rickets, type 2aEnrichmentVDR1.96
82Maturity-onset diabetes of the young, type 3EnrichmentHNF4A1.95
83Cholestasis, progressive familial intrahepatic, 1EnrichmentNR1H41.88
84Atrioventricular septal defectEnrichmentNR1D21.86
85Congenital heart defects, multiple types, 4EnrichmentNR2F21.86
86Color blindnessEnrichmentNR2E31.81
87Body mass index quantitative trait locus 11EnrichmentNR0B2, PPARG1.79
88Chondrosarcoma, extraskeletal myxoidEnrichmentNR4A31.71
89Primary hyperaldosteronismEnrichmentNR3C11.70
90Epilepsy, childhood absence 1EnrichmentRORB1.63
91Albinism, ocular, type iEnrichmentNR2E31.63
92Migraine with or without aura 1EnrichmentESR11.62
93Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentESRRB, ROR11.59
9446 xx gonadal dysgenesisEnrichmentNR5A11.58
95Pulmonary disease, chronic obstructiveEnrichmentVDR1.55
96Acute promyelocytic leukemiaEnrichmentRARA1.55
97Complex neurodevelopmental disorderEnrichmentNR4A2, RORA1.52
98Multiple sclerosisEnrichmentNR1H31.52
99Mhc class ii deficiencyEnrichmentNR2C2AP1.46
100GliosarcomaEnrichmentPPARG1.46
101Microphthalmia/coloboma 12EnrichmentRARB1.45
102Giant cell glioblastomaEnrichmentPPARG1.43
103Heart diseaseEnrichmentNR2F21.41
104Parkinson's diseaseEnrichmentNR4A21.38
105Coloboma of maculaEnrichmentRARB1.38
106Mhc class ii deficiency 1EnrichmentNR2C2AP1.38
107Epilepsy, idiopathic generalizedEnrichmentRORB1.38
108Polycystic liver diseaseEnrichmentHNF4A1.33
109Autosomal dominant polycystic liver diseaseEnrichmentHNF4A1.33
110Hepatocellular carcinomaEnrichmentVDR1.32
111Myocardial infarctionEnrichmentESR11.32
112Tooth agenesisEnrichmentSUMO11.32
113Parkinson disease, late-onsetEnrichmentNR4A21.29
114Maturity-onset diabetes of the youngEnrichmentHNF4A1.26
115MicrophthalmiaEnrichmentRARB1.22
116Prostate cancerEnrichmentAR1.21
117Differentiated thyroid carcinomaEnrichmentPPARG1.21
118NephronophthisisEnrichmentPIAS11.15
119Hereditary breast carcinomaEnrichmentESR11.03
120Optic atrophy plus syndromeEnrichmentNR2F10.93
121Primary ovarian insufficiencyEnrichmentNR5A20.91
122Eye diseaseEnrichmentNR2E30.89
123Breast cancerEnrichmentESR10.81
124Deafness, autosomal recessiveEnrichmentESRRB0.79
125Autosomal recessive nonsyndromic deafnessEnrichmentESRRB0.78
126Colorectal cancerEnrichmentPPARG0.76
127Rare genetic deafnessEnrichmentESRRB0.70
128Ovarian cancerEnrichmentAR0.70
129Cone-rod dystrophy 2EnrichmentNR2E30.63
130Leber plus diseaseEnrichmentNR2E30.51
131Retinitis pigmentosaEnrichmentNR2E30.25
132Hereditary retinal dystrophyEnrichmentNR2E30.17
133Fundus dystrophyEnrichmentNR2E30.17

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