Thyroid hormones production and peripheral downstream signaling effects

No Pathway Network information available for Thyroid hormones production and peripheral downstream signaling effects

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

Disorders associated with Thyroid hormones production and peripheral downstream signaling effects SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Adult hepatocellular carcinomaEnrichmentCTNNB1, PIK3CA, TP53, TSC1, TSC29.02
2Focal cortical dysplasia, type iiEnrichmentMTOR, RHEB, TSC1, TSC28.88
3Isolated focal cortical dysplasia type iiEnrichmentMTOR, RHEB, TSC1, TSC28.88
4HemimegalencephalyEnrichmentAKT3, MTOR, PIK3CA, RHEB8.19
5Familial thyroid dyshormonogenesisEnrichmentDUOX2, DUOXA2, IYD, SLC5A57.71
6RasopathyEnrichmentHRAS, MAP2K1, RAF1, SLC26A4, SOS16.35
7Body mass index quantitative trait locus 11EnrichmentADRB3, AGRP, AQP7, MC4R, POMC, PPARG6.25
8Congenital hypothyroidismEnrichmentDUOX2, DUOXA2, SLC5A5, TSHR6.21
9Bladder cancerEnrichmentCTNNB1, HRAS, PIK3CA, TP53, TSC16.10
10Noonan syndrome and noonan-related syndromeEnrichmentHRAS, MAP2K1, RAF1, SOS15.77
11Noonan syndrome 3EnrichmentHRAS, RAF1, SOS15.12
12Gallbladder cancerEnrichmentCTNNB1, PIK3CA, TP535.12
13Noonan syndrome 1EnrichmentHRAS, MAP2K1, RAF1, SOS14.98
14Arteriovenous malformationEnrichmentHRAS, MAP2K1, PIK3CA4.74
15Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K1, PIK3CA4.59
16Lung non-small cell carcinomaEnrichmentHRAS, MAP2K1, PIK3CA4.45
17LymphangioleiomyomatosisEnrichmentTSC1, TSC24.43
18Rosette-forming glioneuronal tumorEnrichmentFGFR1, PIK3CA4.43
19Lip and oral cavity carcinomaEnrichmentHRAS, PIK3CA, TP534.33
20Tuberous sclerosis 1EnrichmentTSC1, TSC23.96
21HamartomaEnrichmentTSC1, TSC23.96
22KeratoacanthomaEnrichmentNOTCH1, PIK3CA3.96
23GliosarcomaEnrichmentFGFR1, PPARG, TP533.93
24Giant cell glioblastomaEnrichmentFGFR1, PPARG, TP533.85
25Colorectal cancerEnrichmentCTNNB1, PIK3CA, PPARG, SRC, TP533.72
26Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3CA3.66
27Tuberous sclerosisEnrichmentTSC1, TSC23.66
28Hepatocellular carcinomaEnrichmentCTNNB1, PIK3CA, TP533.50
29Rhabdomyosarcoma 2EnrichmentFOXO1, TP533.44
30Ovarian cancerEnrichmentCTNNB1, PIK3CA, TP53, TSC2, TSHR3.42
31Li-fraumeni syndromeEnrichmentMDM2, TP533.26
32Adrenocortical carcinomaEnrichmentCTNNB1, TP533.26
33Breast adenocarcinomaEnrichmentPIK3CA, TP533.26
34Nevus, epidermalEnrichmentHRAS, PIK3CA3.12
35Hypothyroidism, congenital, nongoitrous, 2EnrichmentSLC26A4, TSHR3.12
36Capillary malformation-arteriovenous malformation 1EnrichmentMAP2K1, PIK3CA3.12
37Pilomyxoid astrocytomaEnrichmentFGFR1, RAF13.12
38Melanocytic nevus syndrome, congenitalEnrichmentHRAS, RAF13.00
39Septooptic dysplasiaEnrichmentFGFR1, SHH2.63
40Aortic valve disease 1EnrichmentNOTCH1, SOS12.56
41Rare genetic intellectual disabilityEnrichmentKDM3B, MTOR2.43
42RhabdomyosarcomaEnrichmentHRAS, TP532.38
43Microform holoprosencephalyEnrichmentFGFR1, SHH2.38
44Lobar holoprosencephalyEnrichmentFGFR1, SHH2.38
45Autism spectrum disorderEnrichmentACTL6B, KDM3B, MAP2K1, TSC22.35
46Semilobar holoprosencephalyEnrichmentFGFR1, SHH2.27
47Diffuse large b-cell lymphomaEnrichmentFOXO1, TP532.23
48Holoprosencephaly 3EnrichmentSHH2.21
49Anhidrosis, isolated, with normal sweat glandsEnrichmentITPR22.21
50MacrodactylyEnrichmentPIK3CA2.21
51Insulinomatosis and diabetes mellitusEnrichmentMAFA2.21
52Osteoglophonic dysplasiaEnrichmentFGFR12.21
53Mullerian aplasia and hyperandrogenismEnrichmentWNT42.21
54Trigonocephaly 1EnrichmentFGFR12.21
55Thyroid dyshormonogenesis 4EnrichmentIYD2.21
56Thyrotropin-releasing hormone deficiencyEnrichmentTRH2.21
57Thyroid dyshormonogenesis 1EnrichmentSLC5A52.21
58Noonan syndrome 5EnrichmentRAF12.21
59Noonan syndrome 4EnrichmentSOS12.21
6046,xx sex reversal with dysgenesis of kidneys, adrenals, and lungsEnrichmentWNT42.21
61Melorheostosis, isolatedEnrichmentMAP2K12.21
62Megalencephaly, autosomal dominantEnrichmentPIK3CA2.21
63Microphthalmia/coloboma 5EnrichmentSHH2.21
64Cardiomyopathy, dilated, 1nnEnrichmentRAF12.21
65Type 2 diabetes 5EnrichmentTBC1D42.21
66Cowden syndrome 5EnrichmentPIK3CA2.21
67Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.21
68Thyroid dyshormonogenesis 6EnrichmentDUOX22.21
69Accelerated tumor formationEnrichmentMDM22.21
70Intellectual developmental disorder with severe speech and ambulation defectsEnrichmentACTL6B2.21
71Cerebral cavernous malformations 4EnrichmentPIK3CA2.21
72Noonan syndrome 13EnrichmentMAPK12.21
73Lessel-kubisch syndromeEnrichmentMDM22.21
74Bone marrow failure syndrome 5EnrichmentTP532.21
75Allan-herndon-dudley syndromeEnrichmentSLC16A22.21
76Hypothyroidism, congenital, nongoitrous, 4EnrichmentTSHB2.21
77Papilloma of choroid plexusEnrichmentTP532.21
78Body mass index quantitative trait locus 20EnrichmentMC4R2.21
79Basal cell carcinoma 7EnrichmentTP532.21
80Anaplastic thyroid carcinomaEnrichmentTP532.21
81Left ventricular noncompaction 8EnrichmentPRDM162.21
82Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT32.21
83Hemifacial myohyperplasiaEnrichmentPIK3CA2.21
84Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.21
85MelorheostosisEnrichmentMAP2K12.21
86Leopard syndrome 2EnrichmentRAF12.21
87Glycerol quantitative trait locusEnrichmentAQP72.21
88Cleft palate, psychomotor retardation, and distinctive facial featuresEnrichmentKDM1A2.21
89Ductal carcinoma in situEnrichmentTP532.21
90Hartsfield syndromeEnrichmentFGFR12.21
91Thrombocytopenia 6EnrichmentSRC2.21
92Thyroid hormone metabolism, abnormal, 2EnrichmentDIO12.21
93Rare genetic epilepsyEnrichmentKDM3B2.21
94Obesity due to melanocortin 4 receptor deficiencyEnrichmentMC4R2.21
95TrigonitisEnrichmentRAF12.21
96Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.21
97Thyroid gland undifferentiated carcinomaEnrichmentTP532.21
98Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP532.21
99Adenoid ameloblastomaEnrichmentCTNNB12.21
100Pparg-associated congenital generalized lipodystrophyEnrichmentPPARG2.21
101Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeEnrichmentKDM1A2.21
102HypospadiasEnrichmentPIK3CA2.21
103Capillary hemangiomaEnrichmentAKT32.21
104Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP532.21
105Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alphaEnrichmentTHRA2.21
106Acth-independent macronodular adrenal hyperplasia 3EnrichmentKDM1A2.21
107Choroid plexus cancerEnrichmentTP532.21
108Rare venous malformationEnrichmentPIK3CA2.21
109Immune dysregulation, neurodevelopmental defects, and colitisEnrichmentITGAV2.21
110Diaphragmatic eventrationEnrichmentPIK3CA2.21
111Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.21
112Pleomorphic xanthoastrocytomaEnrichmentTP532.21
113Rare combined vascular malformationEnrichmentPIK3CA2.21
114Cavernous lymphangiomaEnrichmentPIK3CA2.21
115Primary triglyceride deposit cardiomyovasculopathyEnrichmentPNPLA22.21
116Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.21
117Phakomatosis pigmentokeratoticaEnrichmentHRAS2.21
118Resistance to thyroid hormone due to a mutation in thyroid hormone receptor betaEnrichmentTHRB2.21
119Hartsfield-bixler-demyer syndromeEnrichmentFGFR12.21
120Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.21
121Lethal brain and heart developmental defectsEnrichmentSIRT62.21
122Eccrine angiomatous hamartomaEnrichmentPIK3CA2.21
123Generalized resistance to thyroid hormoneEnrichmentTHRB2.21
124Macrodactyly of toeEnrichmentPIK3CA2.21
125Microcystic stromal tumorEnrichmentCTNNB12.21
126Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndromeEnrichmentSHH2.21
127HepatoblastomaEnrichmentCTNNB1, TP532.14
128Thyroid hormone resistance, selective pituitaryEnrichmentTHRB1.91
129Fibromatosis, gingival, 1EnrichmentSOS11.91
130Adrenocortical carcinoma, hereditaryEnrichmentTP531.91
131Costello syndromeEnrichmentHRAS1.91
132Thyroid hormone resistance, generalized, autosomal dominantEnrichmentTHRB1.91
133Osteopathia striata with cranial sclerosisEnrichmentCTNNB11.91
134Thyroid dyshormonogenesis 5EnrichmentDUOXA21.91
135Carotid intimal medial thickness 1EnrichmentPPARG1.91
136Thyroid hormone resistance, generalized, autosomal recessiveEnrichmentTHRB1.91
137Cervical cancerEnrichmentTP531.91
138Pulmonic stenosisEnrichmentSOS11.91
139Hyperthyroidism, familial gestationalEnrichmentTSHR1.91
140Neutral lipid storage disease with myopathyEnrichmentPNPLA21.91
141Keratosis, seborrheicEnrichmentPIK3CA1.91
142Pfeiffer syndromeEnrichmentFGFR11.91
143Jackson-weiss syndromeEnrichmentFGFR11.91
144Encephalocraniocutaneous lipomatosisEnrichmentFGFR11.91
145Solitary median maxillary central incisorEnrichmentSHH1.91
146Adams-oliver syndrome 5EnrichmentNOTCH11.91
147Noonan syndrome 8EnrichmentPIK3CA1.91
148Lymphoma, hodgkin, classicEnrichmentTP531.91
149Hypothyroidism, congenital, nongoitrous, 6EnrichmentTHRA1.91
150Cebalid syndromeEnrichmentMTOR1.91
151Thyroid hormone resistance syndromeEnrichmentTHRB1.91
152Childhood hepatocellular carcinomaEnrichmentCTNNB11.91
153Diets-jongmans syndromeEnrichmentKDM3B1.91
154Senior-loken syndrome 7EnrichmentAKT31.91
155Congenital fibrosarcomaEnrichmentTP531.91
156Li-fraumeni syndrome 1EnrichmentTP531.91
157SarcomaEnrichmentTP531.91
158Cervix carcinomaEnrichmentTP531.91
159Hodgkin's lymphomaEnrichmentTP531.91
160Bardet-biedl syndrome 16EnrichmentAKT31.91
161Smith-kingsmore syndromeEnrichmentMTOR1.91
162Interfrontal craniofaciosynostosisEnrichmentFGFR11.91
163Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB11.91
164Developmental and epileptic encephalopathy 76EnrichmentACTL6B1.91
165Familial partial lipodystrophyEnrichmentPPARG1.91
166TeratomaEnrichmentCTNNB11.91
167Isolated radial hemimeliaEnrichmentSHH1.91
168Pleomorphic rhabdomyosarcomaEnrichmentTP531.91
169Wooly hair nevusEnrichmentHRAS1.91
170Prostate cancerEnrichmentPIK3CA, TP531.87
171Differentiated thyroid carcinomaEnrichmentHRAS, PPARG1.87
172Desmoid disease, hereditaryEnrichmentCTNNB11.74
173Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentITGB31.74
174Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR11.74
175Bleeding disorder, platelet-type, 16EnrichmentITGB31.74
176Pompe disease, infantile-onsetEnrichmentPIK3CA1.74
177Syndactyly, type ivEnrichmentSHH1.74
178Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomaliesEnrichmentWNT41.74
179Polycystic kidney disease, infantile severe, with tuberous sclerosisEnrichmentTSC21.74
180Obesity, early-onset, with adrenal insufficiency and red hairEnrichmentPOMC1.74
181Nuchal bleb, familialEnrichmentSOS11.74
182Langerhans cell histiocytosisEnrichmentMAP2K11.74
183Osteogenic sarcomaEnrichmentTP531.74
184Hyperthyroidism, nonautoimmuneEnrichmentTSHR1.74
185Nasopharyngeal carcinomaEnrichmentTP531.74
186Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA1.74
187Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.74
188Tuberous sclerosis 2EnrichmentTSC21.74
189Chromosome 8p11 myeloproliferative syndromeEnrichmentFGFR11.74
190Lipodystrophy, familial partial, type 4EnrichmentPLIN11.74
191Anus, imperforateEnrichmentCTNNB11.74
192Exudative vitreoretinopathy 7EnrichmentCTNNB11.74
193Hypothyroidism, congenital, nongoitrous, 1EnrichmentTSHR1.74
194Large congenital melanocytic nevusEnrichmentHRAS1.74
195Desmoid tumorEnrichmentCTNNB11.74
196Dedifferentiated liposarcomaEnrichmentMDM21.74
197Atypical teratoid rhabdoid tumorEnrichmentTP531.74
198Anaplastic astrocytomaEnrichmentTP531.74
199Xanthinuria, type iiEnrichmentTSC21.74
200Hypoplastic or aplastic tibia with polydactylyEnrichmentSHH1.74
201Squamous cell carcinomaEnrichmentTP531.74
202AdenocarcinomaEnrichmentTP531.74
203Bone osteosarcomaEnrichmentTP531.74
204SpermatocytomaEnrichmentHRAS1.74
205Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentKDM1A1.74
206Bleeding disorder, platelet-type, 24EnrichmentITGB31.74
207Well-differentiated liposarcomaEnrichmentMDM21.74
208Familial hyperthyroidism due to mutations in tsh receptorEnrichmentTSHR1.74
209Obesity due to pro-opiomelanocortin deficiencyEnrichmentPOMC1.74
210Left ventricular noncompactionEnrichmentPRDM16, RAF11.71
211Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS1.62
212Polydactyly, preaxial iiEnrichmentSHH1.62
213Cardiofaciocutaneous syndrome 1EnrichmentMAP2K11.62
214Small cell cancer of the lungEnrichmentTP531.62
215SchizencephalyEnrichmentSHH1.62
216Thyroid cancer, nonmedullary, 1EnrichmentTP531.62
217Smith-lemli-opitz syndromeEnrichmentTSHR1.62
218Lipodystrophy, congenital generalized, type 2EnrichmentACTL6B1.62
219Lipodystrophy, familial partial, type 3EnrichmentPPARG1.62
220Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.62
221Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT31.62
222PilomatrixomaEnrichmentCTNNB11.62
223Leptin deficiency or dysfunctionEnrichmentPPARG1.62
224Alazami syndromeEnrichmentCTNNB11.62
225Congenital generalized lipodystrophyEnrichmentPPARG1.62
226Cardiofaciocutaneous syndromeEnrichmentMAP2K11.62
227Lung sarcomatoid carcinomaEnrichmentTP531.62
228Cerebrovascular diseaseEnrichmentPIK3CA1.62
229Embryonal rhabdomyosarcomaEnrichmentTP531.62
230CraniopharyngiomaEnrichmentCTNNB11.62
231Noonan syndrome with multiple lentiginesEnrichmentRAF11.62
232Epidermolytic nevusEnrichmentHRAS1.62
233Familial cerebral cavernous malformationsEnrichmentPIK3CA1.62
234Gingival fibromatosisEnrichmentSOS11.62
235Type 2 diabetes mellitusEnrichmentPPARG, TBC1D41.57
236Gastric cancerEnrichmentPIK3CA, TP531.55
237Hereditary breast carcinomaEnrichmentPIK3CA, TP531.53
238Capillary malformations, congenitalEnrichmentPIK3CA1.52
239Exudative vitreoretinopathy 1EnrichmentCTNNB11.52
240Deafness, autosomal recessive 4, with enlarged vestibular aqueductEnrichmentSLC26A41.52
241Glanzmann thrombasthenia 2EnrichmentITGB31.52
242LymphomaEnrichmentTP531.52
243HoloprosencephalyEnrichmentFGFR11.52
244Acute megakaryocytic leukemiaEnrichmentTP531.52
245Primary hypereosinophilic syndromeEnrichmentFGFR11.52
246ThrombocytopeniaEnrichmentITGB3, SRC1.46
247Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.44
248Cowden syndrome 1EnrichmentPIK3CA1.44
249Weyers acrofacial dysostosisEnrichmentCTNNB11.44
250Hemihyperplasia, isolatedEnrichmentPIK3CA1.44
251Holoprosencephaly 1EnrichmentFGFR11.44
252Pendred syndromeEnrichmentSLC26A41.44
253KeratoconusEnrichmentTSC11.44
254Fetomaternal alloimmune thrombocytopenia 1EnrichmentITGB31.44
255Lung squamous cell carcinomaEnrichmentPIK3CA1.44
256Familial isolated dilated cardiomyopathyEnrichmentPRDM16, RAF11.38
257Esophageal cancerEnrichmentTP531.38
258Polycystic kidney disease 1 with or without polycystic liver diseaseEnrichmentTSC21.38
259Thyroid cancer, nonmedullary, 2EnrichmentHRAS1.38
260MyelofibrosisEnrichmentSRC1.38
261Squamous cell carcinoma, head and neckEnrichmentTP531.38
262Glanzmann thrombasthenia 1EnrichmentITGB31.38
263Renal cell carcinoma, papillary, 1EnrichmentMTOR1.38
264Adams-oliver syndromeEnrichmentNOTCH11.38
265Polycystic kidney disease 1EnrichmentTSC21.38
266Essential thrombocythemiaEnrichmentTP531.38
267MegacolonEnrichmentAKT31.38
268Follicular thyroid carcinomaEnrichmentHRAS1.38
269Overgrowth syndromeEnrichmentMTOR1.38
270B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentTP531.38
271Myeloma, multipleEnrichmentRXRA, TP531.34
272Inherited cancer-predisposing syndromeEnrichmentTP53, TSC1, TSC21.33
273Glioma susceptibility 1EnrichmentTP531.32
274Lymphoma, non-hodgkin, familialEnrichmentTP531.32
275Exudative vitreoretinopathyEnrichmentCTNNB11.32
276Hypoplastic left heart syndromeEnrichmentNOTCH11.32
277Hypogonadotropic hypogonadismEnrichmentFGFR11.27
278Primary hyperaldosteronismEnrichmentTP531.27
279Cowden syndromeEnrichmentPIK3CA1.27
280Leukemia, chronic lymphocyticEnrichmentTP531.23
281PolymicrogyriaEnrichmentAKT31.23
282Autosomal dominant macrothrombocytopeniaEnrichmentITGB31.23
283Familial colorectal cancerEnrichmentTP531.23
284Myelodysplastic syndromeEnrichmentTP531.19
285Specific learning disabilityEnrichmentMAPK11.19
286MeningiomaEnrichmentPIK3CA1.15
287AutismEnrichmentACTL6B, SHH1.14
288Chromosome 1p36 deletion syndromeEnrichmentPRDM161.12
289Breast cancerEnrichmentPIK3CA, TP531.11
290Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentFGFR11.08
291OsteoporosisEnrichmentSRC1.08
292MedulloblastomaEnrichmentCTNNB11.08
293Aortic aneurysm, familial thoracic 1EnrichmentNOTCH11.08
294Lung cancer susceptibility 3EnrichmentTP531.08
29546,xy partial gonadal dysgenesisEnrichmentSOS11.08
296Renal cell carcinoma, nonpapillaryEnrichmentMTOR1.06
297Lynch syndromeEnrichmentPIK3CA1.06
298Autosomal dominant polycystic kidney diseaseEnrichmentTSC21.06
299Kidney diseaseEnrichmentTSC11.06
300Septopreoptic holoprosencephalyEnrichmentSHH1.06
301Midline interhemispheric variant of holoprosencephalyEnrichmentSHH1.06
302Wolff-parkinson-white syndromeEnrichmentSLC26A41.03
303Polycystic liver diseaseEnrichmentCTNNB11.00
304Autosomal dominant polycystic liver diseaseEnrichmentCTNNB11.00
305Alobar holoprosencephalyEnrichmentSHH1.00
306Heart, malformation ofEnrichmentMAPK10.98
307Normosmic congenital hypogonadotropic hypogonadismEnrichmentFGFR10.98
308Macs syndromeEnrichmentSHH0.94
309Endometrial cancerEnrichmentPIK3CA0.92
310Myocardial infarctionEnrichmentITGB30.90
311Tooth agenesisEnrichmentFGFR10.90
312Diamond-blackfan anemia 1EnrichmentTP530.88
313Kallmann syndromeEnrichmentFGFR10.88
314Ear malformationEnrichmentSLC26A40.86
315Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF10.86
316Congenital nervous system abnormalityEnrichmentCTNNB1, TSC20.86
317Nervous system diseaseEnrichmentCTNNB1, TSC20.86
318Pancreatic cancerEnrichmentTP530.85
319Tetralogy of fallotEnrichmentNOTCH10.83
320Hydrops fetalis, nonimmuneEnrichmentHRAS0.83
321Severe covid-19EnrichmentITGAV0.79
322Non-immune hydrops fetalisEnrichmentHRAS0.76
323MicrocephalyEnrichmentCTNNB1, MAPK10.76
324Lung cancerEnrichmentPIK3CA0.75
325Connective tissue diseaseEnrichmentNOTCH10.75
326Familial hypertrophic cardiomyopathyEnrichmentRAF10.74
327Diamond-blackfan anemiaEnrichmentTP530.70
328Leukemia, acute myeloidEnrichmentTP530.66
329EpilepsyEnrichmentTSHR0.66
330Hereditary spastic paraplegiaEnrichmentSLC16A20.64
331West syndromeEnrichmentTSC20.63
332Familial thoracic aortic aneurysm and aortic dissectionEnrichmentNOTCH10.63
333Sensorineural hearing lossEnrichmentSLC26A40.59
334HypertelorismEnrichmentPIK3CA0.56
335Hereditary breast ovarian cancer syndromeEnrichmentTP530.54
336Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentKLB0.54
337Undetermined early-onset epileptic encephalopathyEnrichmentACTL6B0.54
338Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentPPARGC1A0.52
339Primary ovarian insufficiencyEnrichmentSIRT60.52
340Deafness, autosomal recessiveEnrichmentSLC26A40.49
341Autosomal recessive nonsyndromic deafnessEnrichmentSLC26A40.49
342Rare genetic deafnessEnrichmentSLC26A40.41
343Dilated cardiomyopathyEnrichmentRAF10.41
344Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentSLC26A40.37
345Complex neurodevelopmental disorderEnrichmentACTL6B0.27

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