Thermogenesis

No Pathway Network information available for Thermogenesis

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

Disorders associated with Thermogenesis SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Coffin-siris syndrome 1EnrichmentARID1A, ARID1B, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE110.35
2Focal cortical dysplasia, type iiEnrichmentMTOR, RHEB, TSC1, TSC28.42
3Isolated focal cortical dysplasia type iiEnrichmentMTOR, RHEB, TSC1, TSC28.42
4Noonan syndrome 1EnrichmentHRAS, KRAS, NRAS, SOS1, SOS26.06
5RasopathyEnrichmentHRAS, KRAS, NRAS, SOS1, SOS25.78
6Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS5.71
7Noonan syndrome and noonan-related syndromeEnrichmentHRAS, KRAS, NRAS, SOS15.31
8Nevus, epidermalEnrichmentHRAS, KRAS, NRAS4.78
9Noonan syndrome 3EnrichmentHRAS, KRAS, SOS14.78
10LymphangioleiomyomatosisEnrichmentTSC1, TSC24.20
11Encephalocraniocutaneous lipomatosisEnrichmentFGFR1, KRAS4.20
12Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS4.20
13Rhabdoid tumor predisposition syndromeEnrichmentSMARCA4, SMARCB14.20
14Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG14.20
15Lung non-small cell carcinomaEnrichmentHRAS, KRAS, NRAS4.11
16Bladder cancerEnrichmentARID1A, HRAS, KRAS, TSC14.11
17Differentiated thyroid carcinomaEnrichmentHRAS, KRAS, NRAS, PPARG4.11
18Tuberous sclerosis 1EnrichmentTSC1, TSC23.73
19Large congenital melanocytic nevusEnrichmentHRAS, NRAS3.73
20HamartomaEnrichmentTSC1, TSC23.73
21Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS, KDM1A3.73
22MyxofibrosarcomaEnrichmentCREB3L1, CREB3L23.73
23Rare genetic intellectual disabilityEnrichmentARID1B, KDM3B, MTOR3.68
24Carnitine-acylcarnitine translocase deficiencyEnrichmentSLC25A203.43
25Nicolaides-baraitser syndromeEnrichmentARID1B, SMARCA23.43
26BlepharophimosisEnrichmentARID1B, SMARCA23.43
27Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS3.43
28Tuberous sclerosisEnrichmentTSC1, TSC23.43
29Smarca2-related nicolaides-baraitser syndromeEnrichmentARID1B, SMARCA23.43
30HemimegalencephalyEnrichmentMTOR, RHEB3.21
31Body mass index quantitative trait locus 11EnrichmentADCY3, ADRB3, GNAS, PPARG3.18
32Carnitine palmitoyltransferase ii deficiency, infantileEnrichmentCPT23.13
33Carnitine palmitoyltransferase ii deficiency, lethal neonatalEnrichmentCPT23.13
34Carnitine palmitoyltransferase i deficiencyEnrichmentCPT1A3.13
35Carnitine palmitoyltransferase ii deficiency, myopathic, stress-inducedEnrichmentCPT23.13
36Encephalopathy, acute, infection-induced 4EnrichmentCPT23.13
37Spastic paraplegia 73, autosomal dominantEnrichmentCPT1C3.13
38Acute necrotizing encephalopathy of childhoodEnrichmentCPT23.13
39Thyroid cancer, nonmedullary, 2EnrichmentHRAS, NRAS2.89
40Leukemia, chronic myeloidEnrichmentKRAS, NRAS2.89
41Pilomyxoid astrocytomaEnrichmentFGFR1, KRAS2.89
42Follicular thyroid carcinomaEnrichmentHRAS, NRAS2.89
43Melanocytic nevus syndrome, congenitalEnrichmentHRAS, NRAS2.77
44Gastroesophageal refluxEnrichmentACTL6A, RPS6KA32.77
45Autism spectrum disorderEnrichmentACTL6B, ARID1B, KDM3B, SMARCB1, TSC22.75
46Non-immune hydrops fetalisEnrichmentARID1A, HRAS, KRAS2.73
47Ellis-van creveld syndromeEnrichmentPRKACA, PRKACB2.66
48Adult hepatocellular carcinomaEnrichmentTSC1, TSC22.66
49Ventricular septal defectEnrichmentRPS6KA3, SMARCA42.66
50Meningioma, familialEnrichmentSMARCB1, SMARCE12.48
51Atrial heart septal defectEnrichmentACTL6A, SMARCA42.48
52Interatrial communicationEnrichmentACTL6A, SMARCA42.48
53Septooptic dysplasiaEnrichmentARID1A, FGFR12.41
54Juvenile myelomonocytic leukemiaEnrichmentKRAS, NRAS2.41
55MeningiomaEnrichmentSMARCB1, SMARCE12.41
56Inherited cancer-predisposing syndromeEnrichmentSMARCA4, SMARCB1, SMARCE1, TSC1, TSC22.39
57Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentARID1A, ARID1B2.15
58GliosarcomaEnrichmentFGFR1, PPARG2.15
59Giant cell glioblastomaEnrichmentFGFR1, PPARG2.10
60Osteoglophonic dysplasiaEnrichmentFGFR12.10
61Trigonocephaly 1EnrichmentFGFR12.10
62TorticollisEnrichmentACTL6A2.10
63Baraitser-winter syndrome 1EnrichmentACTB2.10
64Coffin-lowry syndromeEnrichmentRPS6KA32.10
65Oculoectodermal syndromeEnrichmentKRAS2.10
66Intellectual developmental disorder, x-linked 63EnrichmentACSL42.10
67Noonan syndrome 4EnrichmentSOS12.10
68Pseudohypoparathyroidism, type icEnrichmentGNAS2.10
69Osseous heteroplasia, progressiveEnrichmentGNAS2.10
70Melanosis, neurocutaneousEnrichmentNRAS2.10
71Noonan syndrome 9EnrichmentSOS22.10
72Coffin-siris syndrome 5EnrichmentSMARCE12.10
73Dyskinesia with orofacial involvement, autosomal dominantEnrichmentADCY52.10
74Noonan syndrome 6EnrichmentNRAS2.10
75Osteogenesis imperfecta, type xviEnrichmentCREB3L12.10
76Aortic aneurysm, familial thoracic 8EnrichmentPRKG12.10
77Deafness, autosomal recessive 44EnrichmentADCY12.10
78Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS2.10
79Intellectual developmental disorder with severe speech and ambulation defectsEnrichmentACTL6B2.10
80Hypertriglyceridemia 2EnrichmentCREB3L32.10
81Coffin-siris syndrome 11EnrichmentSMARCD12.10
82Spondylometaphyseal dysplasia, pagnamenta typeEnrichmentPRKG22.10
83Hydrocephalus, congenital, 5EnrichmentSMARCC12.10
84Neurodevelopmental disorder with hyperkinetic movements and dyskinesiaEnrichmentADCY52.10
85Pituitary adenoma 3, multiple typesEnrichmentGNAS2.10
86Diarrhea 13EnrichmentACSL52.10
87Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB2.10
88Intellectual developmental disorder, x-linked 19EnrichmentRPS6KA32.10
89Cardioacrofacial dysplasia 2EnrichmentPRKACB2.10
90Left ventricular noncompaction 8EnrichmentPRDM162.10
91Cardiomyopathy, familial hypertrophic, 6EnrichmentPRKAG22.10
92Glycogen storage disease of heart, lethal congenitalEnrichmentPRKAG22.10
93Cardiofaciocutaneous syndrome 2EnrichmentKRAS2.10
94Dyskinesia with orofacial involvement, autosomal recessiveEnrichmentADCY52.10
95Becker nevus syndromeEnrichmentACTB2.10
96Dystonia-deafness syndrome 1EnrichmentACTB2.10
97Rhabdoid tumor predisposition syndrome 1EnrichmentSMARCB12.10
98Cleft palate, psychomotor retardation, and distinctive facial featuresEnrichmentKDM1A2.10
99Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA2.10
100NeurilemmomaEnrichmentSMARCB12.10
101Disorders of gnas inactivationEnrichmentGNAS2.10
102Coffin-siris syndrome 3EnrichmentSMARCB12.10
103Smarca4-deficient sarcoma of thoraxEnrichmentSMARCA42.10
104Arid1b-related disorderEnrichmentARID1B2.10
105Ovarian small cell carcinomaEnrichmentSMARCA42.10
106Hartsfield syndromeEnrichmentFGFR12.10
107Skeletal muscle glycogen content and metabolism quantitative trait locusEnrichmentPRKAG32.10
108Cardioacrofacial dysplasia 1EnrichmentPRKACA2.10
109Rare genetic epilepsyEnrichmentKDM3B2.10
110Blepharophimosis-impaired intellectual development syndromeEnrichmentSMARCA22.10
111Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB2.10
112Baraitser-winter syndromeEnrichmentACTB2.10
113Pparg-associated congenital generalized lipodystrophyEnrichmentPPARG2.10
114Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeEnrichmentKDM1A2.10
115Symptomatic form of coffin-lowry syndrome in female carriersEnrichmentRPS6KA32.10
116Facial cleftEnrichmentSMARCE12.10
117Acth-independent macronodular adrenal hyperplasia 3EnrichmentKDM1A2.10
118Congenital pulmonary airway malformationEnrichmentKRAS2.10
119Idiopathic hypercalciuriaEnrichmentADCY102.10
120Autosomal recessive severe congenital neutropeniaEnrichmentSMARCD22.10
121Congenital smooth muscle hamartomaEnrichmentACTB2.10
122Developmental malformations-deafness-dystonia syndromeEnrichmentACTB2.10
123Primary triglyceride deposit cardiomyovasculopathyEnrichmentPNPLA22.10
124Monostotic fibrous dysplasiaEnrichmentGNAS2.10
125Phakomatosis pigmentokeratoticaEnrichmentHRAS2.10
126Hartsfield-bixler-demyer syndromeEnrichmentFGFR12.10
127Mazabraud syndromeEnrichmentGNAS2.10
128Lethal brain and heart developmental defectsEnrichmentSIRT62.10
129Neurocutaneous melanocytosisEnrichmentNRAS2.10
130Fibromatosis, gingival, 1EnrichmentSOS11.80
131Alopecia, androgenetic, 1EnrichmentSMARCD11.80
132Pseudohypoparathyroidism, type iaEnrichmentGNAS1.80
133Hypercalciuria, absorptive, 2EnrichmentADCY101.80
134Costello syndromeEnrichmentHRAS1.80
135TrichomegalyEnrichmentARID1B1.80
136Specific granule deficiency 1EnrichmentSMARCD21.80
137Carotid intimal medial thickness 1EnrichmentPPARG1.80
138Pulmonic stenosisEnrichmentSOS11.80
139Histiocytoma, angiomatoid fibrousEnrichmentCREB11.80
140Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS1.80
141Neutral lipid storage disease with myopathyEnrichmentPNPLA21.80
142PseudopseudohypoparathyroidismEnrichmentGNAS1.80
143Rhabdoid tumor predisposition syndrome 2EnrichmentSMARCA41.80
144Schwannomatosis 1EnrichmentSMARCB11.80
145Deafness, autosomal dominant 20EnrichmentACTG11.80
146Pfeiffer syndromeEnrichmentFGFR11.80
147Jackson-weiss syndromeEnrichmentFGFR11.80
148Chromosome 6q24-q25 deletion syndromeEnrichmentARID1B1.80
149Baraitser-winter syndrome 2EnrichmentACTG11.80
150Lethal congenital contracture syndrome 8EnrichmentADCY61.80
151Bleeding disorder, platelet-type, 19EnrichmentPRKACG1.80
152Severe combined immunodeficiency with sensitivity to ionizing radiationEnrichmentARID1B1.80
153Specific granule deficiency 2EnrichmentSMARCD21.80
154Coffin-siris syndrome 8EnrichmentSMARCC21.80
155Cebalid syndromeEnrichmentMTOR1.80
156Diets-jongmans syndromeEnrichmentKDM3B1.80
157Acromesomelic dysplasia 4EnrichmentPRKG21.80
158Rosette-forming glioneuronal tumorEnrichmentFGFR11.80
159PseudohypoparathyroidismEnrichmentGNAS1.80
160Body mass index quantitative trait locus 19EnrichmentADCY31.80
161Fibrolamellar carcinomaEnrichmentPRKACA1.80
162Otosclerosis 12EnrichmentSMARCA41.80
163Coffin-siris syndrome 4EnrichmentSMARCA41.80
164Smith-kingsmore syndromeEnrichmentMTOR1.80
165Blepharophimosis - intellectual disability syndromeEnrichmentSMARCA21.80
166Interfrontal craniofaciosynostosisEnrichmentFGFR11.80
167Developmental and epileptic encephalopathy 76EnrichmentACTL6B1.80
168Familial partial lipodystrophyEnrichmentPPARG1.80
169Transient infantile hypertriglyceridemia and hepatosteatosisEnrichmentCREB3L31.80
170Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS1.80
171Specific granule deficiencyEnrichmentSMARCD21.80
172Wooly hair nevusEnrichmentHRAS1.80
173MicrocephalyEnrichmentACTB, ACTG1, ARID1A, ARID1B1.78
174Hydrops fetalis, nonimmuneEnrichmentARID1A, HRAS1.74
175Mccune-albright syndromeEnrichmentGNAS1.63
176Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR11.63
177Polycystic kidney disease, infantile severe, with tuberous sclerosisEnrichmentTSC21.63
178Nuchal bleb, familialEnrichmentSOS11.63
179Langerhans cell histiocytosisEnrichmentNRAS1.63
180Tuberous sclerosis 2EnrichmentTSC21.63
181Lipodystrophy, familial partial, type 6EnrichmentLIPE1.63
182Chromosome 8p11 myeloproliferative syndromeEnrichmentFGFR11.63
183Lipodystrophy, familial partial, type 4EnrichmentPLIN11.63
184Nail disorder, nonsyndromic congenital, 9EnrichmentARID1B1.63
185Coffin-siris syndrome 2EnrichmentARID1A1.63
186Umbilical herniaEnrichmentACTL6A1.63
187Atypical teratoid rhabdoid tumorEnrichmentSMARCB11.63
188Xanthinuria, type iiEnrichmentTSC21.63
189Periventricular leukomalaciaEnrichmentARID1A1.63
190SpermatocytomaEnrichmentHRAS1.63
191SchwannomatosisEnrichmentSMARCB11.63
192Melanoma of soft tissueEnrichmentCREB11.63
193Hypomyelination neuropathy-arthrogryposis syndromeEnrichmentADCY61.63
194Chorea, benign hereditaryEnrichmentADCY51.50
195Hypertriglyceridemia 1EnrichmentCREB3L31.50
196Cardiofaciocutaneous syndrome 1EnrichmentKRAS1.50
197Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS1.50
198Pseudohypoparathyroidism, type ibEnrichmentGNAS1.50
199Lipodystrophy, congenital generalized, type 2EnrichmentACTL6B1.50
200Lipodystrophy, familial partial, type 3EnrichmentPPARG1.50
201Amme complexEnrichmentACSL41.50
202Aminoacylase 1 deficiencyEnrichmentACTB1.50
203Leptin deficiency or dysfunctionEnrichmentPPARG1.50
204Congenital generalized lipodystrophyEnrichmentPPARG1.50
205Cardiofaciocutaneous syndromeEnrichmentKRAS1.50
206Lung sarcomatoid carcinomaEnrichmentKRAS1.50
207Pilocytic astrocytomaEnrichmentKRAS1.50
208Epidermolytic nevusEnrichmentHRAS1.50
209Full schwannomatosisEnrichmentSMARCB11.50
210Gingival fibromatosisEnrichmentSOS11.50
211Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS21.50
212Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.50
213Colorectal cancerEnrichmentARID1A, NRAS, PPARG1.49
214Non-syndromic x-linked intellectual disabilityEnrichmentACSL4, RPS6KA31.48
215Congenital nervous system abnormalityEnrichmentCPT21.41
216Nervous system diseaseEnrichmentCPT21.41
217HoloprosencephalyEnrichmentFGFR11.41
218Coloboma of choroid and retinaEnrichmentACTG11.41
219Primary hypereosinophilic syndromeEnrichmentFGFR11.41
220Leukemia, acute myeloidEnrichmentKRAS, NRAS1.40
221Ovarian cancerEnrichmentKRAS, SMARCB1, TSC21.33
222Holoprosencephaly 1EnrichmentFGFR11.33
223Wiedemann-steiner syndromeEnrichmentARID1B1.33
224Inguinal herniaEnrichmentACTL6A1.33
225KeratoconusEnrichmentTSC11.33
226Breast adenocarcinomaEnrichmentKRAS1.33
227Lung squamous cell carcinomaEnrichmentKRAS1.33
228HypertrichosisEnrichmentARID1B1.33
229Polycystic kidney disease 1 with or without polycystic liver diseaseEnrichmentTSC21.26
230Capillary malformation-arteriovenous malformation 1EnrichmentKRAS1.26
231Renal cell carcinoma, papillary, 1EnrichmentMTOR1.26
232BrachydactylyEnrichmentGNAS1.26
233Polycystic kidney disease 1EnrichmentTSC21.26
234Gallbladder cancerEnrichmentKRAS1.26
235Congenital hydrocephalusEnrichmentSMARCC11.26
236Overgrowth syndromeEnrichmentMTOR1.26
237Spastic paraplegia 4, autosomal dominantEnrichmentGNAS1.21
238Orthostatic intoleranceEnrichmentRPS6KA31.21
239NeuroblastomaEnrichmentSMARCA41.21
240Arteriovenous malformationEnrichmentHRAS1.16
241Hypogonadotropic hypogonadismEnrichmentFGFR11.16
242Primary hyperaldosteronismEnrichmentGNAS1.16
243Cat eye syndromeEnrichmentACTG11.11
244Stroke, ischemicEnrichmentACSL41.11
245Myopathy, x-linked, with excessive autophagyEnrichmentHRAS1.11
246Specific learning disabilityEnrichmentRPS6KA31.07
247Lip and oral cavity carcinomaEnrichmentHRAS1.04
248Aortic valve disease 1EnrichmentSOS11.01
249Hypercholesterolemia, familial, 1EnrichmentSMARCA41.01
250Chromosome 1p36 deletion syndromeEnrichmentPRDM161.01
251Protein-deficiency anemiaEnrichmentNRAS1.01
252Nk-cell enteropathyEnrichmentSMARCB11.01
253Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentFGFR10.98
254Lung cancer susceptibility 3EnrichmentKRAS0.98
255Pituitary stalk interruption syndromeEnrichmentSMARCA20.98
25646,xy partial gonadal dysgenesisEnrichmentSOS10.98
257Renal cell carcinoma, nonpapillaryEnrichmentMTOR0.95
258Corpus callosum, agenesis ofEnrichmentARID1B0.95
259Osteogenesis imperfecta, type iiiEnrichmentCREB3L10.95
260Familial hypercholesterolemiaEnrichmentSMARCA40.95
261Lynch syndromeEnrichmentKRAS0.95
262Autosomal dominant polycystic kidney diseaseEnrichmentTSC20.95
263Kidney diseaseEnrichmentTSC10.95
264Isolated corpus callosum agenesisEnrichmentARID1B0.95
265Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentARID1B0.95
266Wolff-parkinson-white syndromeEnrichmentPRKAG20.92
267RhabdomyosarcomaEnrichmentHRAS0.92
268Microform holoprosencephalyEnrichmentFGFR10.92
269Lobar holoprosencephalyEnrichmentFGFR10.92
270Cleft palate, isolatedEnrichmentSMARCA40.90
271Semilobar holoprosencephalyEnrichmentFGFR10.87
272Normosmic congenital hypogonadotropic hypogonadismEnrichmentFGFR10.87
273Arteriovenous malformations of the brainEnrichmentKRAS0.85
274LissencephalyEnrichmentACTG10.81
275Tooth agenesisEnrichmentFGFR10.79
276Brittle bone disorderEnrichmentCREB3L10.77
277Kallmann syndromeEnrichmentFGFR10.77
278Pancreatic cancerEnrichmentKRAS0.74
279Lung cancerEnrichmentKRAS0.65
280Familial hypertrophic cardiomyopathyEnrichmentPRKAG20.63
281CakutEnrichmentACTG10.62
282Left ventricular noncompactionEnrichmentPRDM160.61
283Non-syndromic genetic deafnessEnrichmentACTG10.60
284Complex neurodevelopmental disorderEnrichmentACTL6A, ACTL6B0.59
285Cerebral palsyEnrichmentSMARCA40.57
286Type 2 diabetes mellitusEnrichmentPPARG0.54
287Nonsyndromic hearing lossEnrichmentACTG10.54
288Gastric cancerEnrichmentKRAS0.54
289Hypertrophic cardiomyopathyEnrichmentPRKAG20.54
290West syndromeEnrichmentTSC20.53
291Familial thoracic aortic aneurysm and aortic dissectionEnrichmentPRKG10.53
292Hereditary breast carcinomaEnrichmentKRAS0.53
293HypertelorismEnrichmentRPS6KA30.47
294Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG10.47
295Familial isolated dilated cardiomyopathyEnrichmentPRDM160.46
296Hereditary breast ovarian cancer syndromeEnrichmentKRAS0.45
297Myeloma, multipleEnrichmentKRAS0.44
298Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentKLB0.44
299Undetermined early-onset epileptic encephalopathyEnrichmentACTL6B0.44
300Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentPPARGC1A0.43
301Primary ovarian insufficiencyEnrichmentSIRT60.42
302AutismEnrichmentACTL6B0.36
303Breast cancerEnrichmentKRAS0.35
304Rare genetic deafnessEnrichmentACTG10.33
305Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentADCY10.29

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