TGF-beta Signaling Pathways

No Pathway Network information available for TGF-beta Signaling Pathways

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

Disorders associated with TGF-beta Signaling Pathways SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Loeys-dietz syndromeEnrichmentSMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR210.64
2Noonan syndrome 1EnrichmentBRAF, KRAS, MAP2K1, MAP2K2, RAF1, SOS1, SOS29.71
3RasopathyEnrichmentBRAF, KRAS, MAP2K1, MAP2K2, RAF1, SOS1, SOS29.38
4Noonan syndrome and noonan-related syndromeEnrichmentBRAF, KRAS, MAP2K1, MAP2K2, RAF1, SOS19.27
5Cardiofaciocutaneous syndrome 1EnrichmentBRAF, KRAS, MAP2K1, MAP2K28.62
6Cardiofaciocutaneous syndromeEnrichmentBRAF, KRAS, MAP2K1, MAP2K28.62
7Familial thoracic aortic aneurysm and aortic dissectionEnrichmentSMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR27.66
8Loeys-dietz syndrome 1EnrichmentSMAD2, TGFBR1, TGFBR26.46
9Noonan syndrome 3EnrichmentKRAS, RAF1, SOS14.93
10Gallbladder cancerEnrichmentBRAF, KRAS, SMAD44.93
11Hereditary hemorrhagic telangiectasiaEnrichmentACVRL1, ENG, SMAD44.93
12Pilomyxoid astrocytomaEnrichmentBRAF, KRAS, RAF14.93
13Marfan syndromeEnrichmentTGFB2, TGFBR1, TGFBR24.40
14Pulmonic stenosisEnrichmentBRAF, SOS14.30
15Loeys-dietz syndrome 2EnrichmentTGFBR1, TGFBR24.30
16Loeys-dietz syndrome 4EnrichmentTGFB2, TGFB34.30
17Immune system diseaseEnrichmentCDC42, PIK3CD4.30
18Tafro syndromeEnrichmentMAP2K2, RUNX14.30
19Lung non-small cell carcinomaEnrichmentBRAF, KRAS, MAP2K14.26
20Heritable pulmonary arterial hypertensionEnrichmentACVRL1, ENG, SMAD94.26
21Langerhans cell histiocytosisEnrichmentBRAF, MAP2K13.83
22Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R13.83
23Immunodeficiency 14EnrichmentPIK3CD, PIK3R13.83
24Melanoma of soft tissueEnrichmentATF1, CREB13.83
25Breast cancerEnrichmentAKT1, ESR1, JUN, KRAS, SHC13.73
26Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3R23.53
27Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R23.53
28Congenital generalized lipodystrophyEnrichmentFOS, PPARG3.53
29Aortic aneurysmEnrichmentSMAD3, TGFBR13.53
30Noonan syndrome with multiple lentiginesEnrichmentBRAF, RAF13.53
31Arteriovenous malformations of the brainEnrichmentBRAF, ENG, KRAS3.51
32Ehlers-danlos syndromeEnrichmentSMAD3, TGFB2, TGFBR23.51
33Colorectal cancerEnrichmentAKT1, BRAF, PIK3R1, PPARG, SMAD43.43
34Histiocytoid hemangiomaEnrichmentFOS, FOSB3.31
35HemimegalencephalyEnrichmentAKT3, MTOR3.31
36Generalized juvenile polyposis/juvenile polyposis coliEnrichmentENG, SMAD43.31
37Familial cerebral saccular aneurysmEnrichmentENG, TGFBR33.31
38Telangiectasia, hereditary hemorrhagic, type 1EnrichmentACVRL1, ENG3.14
39Breast adenocarcinomaEnrichmentAKT1, KRAS3.14
40Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, MAP2K12.99
41Leukemia, chronic myeloidEnrichmentKRAS, RUNX12.99
42Common variable immunodeficiencyEnrichmentNFKB1, NFKB22.99
43Overgrowth syndromeEnrichmentMTOR, PIK3R12.99
44Differentiated thyroid carcinomaEnrichmentBRAF, KRAS, PPARG2.96
45Melanocytic nevus syndrome, congenitalEnrichmentBRAF, RAF12.87
46Primary hyperaldosteronismEnrichmentBRAF, NR3C12.76
47Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3CD, PIK3R12.67
48Type 2 diabetes mellitusEnrichmentAKT2, HNF4A, PPARG2.49
49Pulmonary hypertension, primary, 1EnrichmentACVRL1, ENG2.43
50Hereditary breast carcinomaEnrichmentAKT1, ESR1, KRAS2.43
51Lung cancer susceptibility 3EnrichmentBRAF, KRAS2.37
52ThrombocytopeniaEnrichmentACVRL1, RUNX1, SMAD42.33
53Lynch syndromeEnrichmentKRAS, TGFBR22.31
54Pallister-hall syndromeEnrichmentGLI32.15
55Proteus syndromeEnrichmentAKT12.15
56Cardiospondylocarpofacial syndromeEnrichmentMAP3K72.15
57Greig cephalopolysyndactyly syndromeEnrichmentGLI32.15
58Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT22.15
59Prostate cancer, hereditary, x-linked 3EnrichmentAR2.15
60Oculoectodermal syndromeEnrichmentKRAS2.15
61Pallister-killian syndromeEnrichmentARAF2.15
62Androgen insensitivity, partialEnrichmentAR2.15
63Noonan syndrome 5EnrichmentRAF12.15
64Telangiectasia, hereditary hemorrhagic, type 2EnrichmentACVRL12.15
65Noonan syndrome 4EnrichmentSOS12.15
66Polydactyly, preaxial ivEnrichmentGLI32.15
67Melorheostosis, isolatedEnrichmentMAP2K12.15
68Noonan syndrome 7EnrichmentBRAF2.15
69Leopard syndrome 3EnrichmentBRAF2.15
70Cardiomyopathy, dilated, 1nnEnrichmentRAF12.15
71Multiple self-healing squamous epitheliomaEnrichmentTGFBR12.15
72Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.15
73Noonan syndrome 9EnrichmentSOS22.15
74Glucocorticoid resistance, generalizedEnrichmentNR3C12.15
75Fanconi renotubular syndrome 4 with maturity-onset diabetes of the youngEnrichmentHNF4A2.15
76Osteogenesis imperfecta, type xviEnrichmentCREB3L12.15
77Frontometaphyseal dysplasia 2EnrichmentMAP3K72.15
78Noonan syndrome 13EnrichmentMAPK12.15
79Immunodeficiency 92EnrichmentREL2.15
80Knobloch syndrome 2EnrichmentPAK22.15
81Short syndromeEnrichmentPIK3R12.15
82Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired languageEnrichmentMEF2C2.15
83Cardiofaciocutaneous syndrome 2EnrichmentKRAS2.15
84Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT32.15
85LymphangiomaEnrichmentBRAF2.15
86Camurati-engelmann disease 2EnrichmentTGFB22.15
87Phace associationEnrichmentBRAF2.15
88Ovarian dysgenesis 8EnrichmentESR22.15
89MelorheostosisEnrichmentMAP2K12.15
90Colorectal cancer, hereditary nonpolyposis, type 6EnrichmentTGFBR22.15
91Leopard syndrome 2EnrichmentRAF12.15
92Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.15
93Cardiofaciocutaneous syndrome 4EnrichmentMAP2K22.15
94Polydactyly-macrocephaly syndromeEnrichmentMAX2.15
95Cowden syndrome 6EnrichmentAKT12.15
96Pulmonary hypertension, primary, 2EnrichmentSMAD92.15
97Congenital myopathy 17EnrichmentMYOD12.15
98Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD2.15
99Loeys-dietz syndrome 6EnrichmentSMAD22.15
100Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.15
101Colorectal cancer 3EnrichmentSMAD72.15
102Immunodeficiency 97 with autoinflammationEnrichmentPIK3CG2.15
103Loeys-dietz syndrome 5EnrichmentTGFB32.15
104Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA2.15
105Takenouchi-kosaki syndromeEnrichmentCDC422.15
106Deficiency in anterior pituitary function - variable immunodeficiency syndromeEnrichmentNFKB22.15
107Immunodeficiency 53EnrichmentRELB2.15
108Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA2.15
109TelangiectasisEnrichmentACVRL12.15
110TrigonitisEnrichmentRAF12.15
111Congenital heart defects, multiple types, 8, with or without heterotaxyEnrichmentSMAD22.15
112Pparg-associated congenital generalized lipodystrophyEnrichmentPPARG2.15
113Heritable thoracic aortic diseaseEnrichmentSMAD42.15
114Capillary hemangiomaEnrichmentAKT32.15
115Hyperinsulinism due to hnf4a deficiencyEnrichmentHNF4A2.15
1165q14.3 microdeletion syndromeEnrichmentMEF2C2.15
117Congenital pulmonary airway malformationEnrichmentKRAS2.15
118Complete atrioventricular septal defect without ventricular hypoplasiaEnrichmentMEF2C2.15
119Complete androgen insensitivity syndromeEnrichmentAR2.15
120Nocarh syndromeEnrichmentCDC422.15
121Syringocystadenoma papilliferumEnrichmentBRAF2.15
122GangliogliomaEnrichmentBRAF2.15
123Nongerminomatous germ cell tumorEnrichmentBRAF2.15
124Phace syndromeEnrichmentBRAF2.15
125Mef2c-related disorderEnrichmentMEF2C2.15
126Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC12.15
127Classic hairy cell leukemiaEnrichmentBRAF2.15
128Akt2-related familial partial lipodystrophyEnrichmentAKT22.15
129Myeloma, multipleEnrichmentBRAF, KRAS, PIK3R22.14
130Diffuse large b-cell lymphomaEnrichmentBRAF, FOXO12.11
131Pancreatic cancerEnrichmentKRAS, SMAD41.87
132Burkitt lymphomaEnrichmentMYC1.85
133Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactylyEnrichmentRUNX21.85
134Maturity-onset diabetes of the young, type 1EnrichmentHNF4A1.85
135Fibromatosis, gingival, 1EnrichmentSOS11.85
136Myhre syndromeEnrichmentSMAD41.85
137Camurati-engelmann disease 1EnrichmentTGFB11.85
138Storage pool platelet diseaseEnrichmentRUNX11.85
139Galactosemia iiEnrichmentNR3C11.85
140Spinal and bulbar muscular atrophy, x-linked 1EnrichmentAR1.85
141Carotid intimal medial thickness 1EnrichmentPPARG1.85
142Pulmonary arteriovenous fistulasEnrichmentENG1.85
143Histiocytoma, angiomatoid fibrousEnrichmentCREB11.85
144Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD41.85
145Microvascular complications of diabetes 5EnrichmentTGFBR21.85
146Encephalocraniocutaneous lipomatosisEnrichmentKRAS1.85
147Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS1.85
148Roifman-chitayat syndromeEnrichmentPIK3CD1.85
149Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.85
150Immunodeficiency, common variable, 10EnrichmentNFKB21.85
151Loeys-dietz syndrome 3EnrichmentSMAD31.85
152Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.85
15346,xy sex reversal 1EnrichmentAR1.85
154Androgen insensitivity syndromeEnrichmentAR1.85
155Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA1.85
156Cebalid syndromeEnrichmentMTOR1.85
157Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB11.85
158Tibial hemimeliaEnrichmentGLI31.85
159Hypospadias 1, x-linkedEnrichmentAR1.85
160Rela fusion-positive ependymomaEnrichmentRELA1.85
161Senior-loken syndrome 7EnrichmentAKT31.85
162SynpolydactylyEnrichmentGLI31.85
163Camurati-engelmann diseaseEnrichmentTGFB11.85
164Bardet-biedl syndrome 16EnrichmentAKT31.85
165Smith-kingsmore syndromeEnrichmentMTOR1.85
166Houge-janssens syndrome 3EnrichmentPPP2CA1.85
167Postaxial polydactyly type bEnrichmentGLI31.85
168Familial partial lipodystrophyEnrichmentPPARG1.85
169Posterior hypospadiasEnrichmentAR1.85
170HyperinsulinismEnrichmentHNF4A1.85
171Hyperinsulinism due to hnf1a deficiencyEnrichmentHNF4A1.85
172Common variable immunodeficiency 12EnrichmentNFKB11.85
173Cleidocranial dysplasia 1EnrichmentRUNX21.68
174Thyroid carcinoma, familial medullaryEnrichmentESR21.68
175Ataxia-telangiectasiaEnrichmentBRAF1.68
176Juvenile polyposis syndromeEnrichmentSMAD41.68
177Acrocallosal syndromeEnrichmentGLI31.68
178Aarskog-scott syndromeEnrichmentGLI31.68
179Platelet disorder, familial, with associated myeloid malignancyEnrichmentRUNX11.68
180Nuchal bleb, familialEnrichmentSOS11.68
181Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3R11.68
182Estrogen resistanceEnrichmentESR11.68
183Tethered spinal cord syndromeEnrichmentBRAF1.68
184Umbilical herniaEnrichmentGLI31.68
185High-grade b-cell lymphoma double-hit/triple-hitEnrichmentMYC1.68
186Frontometaphyseal dysplasiaEnrichmentMAP3K71.68
187Cleidocranial dysplasiaEnrichmentRUNX21.68
188Migraine without auraEnrichmentESR11.68
189MyxofibrosarcomaEnrichmentCREB3L11.68
190Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with runx1EnrichmentRUNX11.68
191Pulmonary arterial hypertension associated with congenital heart diseaseEnrichmentSMAD91.68
192Lung cancerEnrichmentBRAF, KRAS1.67
193Connective tissue diseaseEnrichmentSMAD3, TGFBR21.67
194Schimmelpenning-feuerstein-mims syndromeEnrichmentKRAS1.55
195Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS1.55
196Hemophilia aEnrichmentACVRL11.55
197Thyroid cancer, nonmedullary, 1EnrichmentBRAF1.55
198Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.55
199Lipodystrophy, familial partial, type 3EnrichmentPPARG1.55
200Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.55
201Maturity-onset diabetes of the young, type 3EnrichmentHNF4A1.55
202Focal cortical dysplasia, type iiEnrichmentMTOR1.55
203Immunodeficiency, common variable, 1EnrichmentNFKB21.55
204Factor viii deficiencyEnrichmentACVRL11.55
205Leptin deficiency or dysfunctionEnrichmentPPARG1.55
206Arthrogryposis multiplex congenita 3, myogenic typeEnrichmentESR11.55
207Lung sarcomatoid carcinomaEnrichmentKRAS1.55
208Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS1.55
209CraniopharyngiomaEnrichmentBRAF1.55
210Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCDC421.55
211Pilocytic astrocytomaEnrichmentKRAS1.55
212Blood platelet diseaseEnrichmentRUNX11.55
213Newborn respiratory distress syndromeEnrichmentBRAF1.55
214Knobloch syndromeEnrichmentPAK21.55
215Isolated focal cortical dysplasia type iiEnrichmentMTOR1.55
216Gingival fibromatosisEnrichmentSOS11.55
217Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS21.55
218Pseudomyogenic hemangioendotheliomaEnrichmentFOSB1.55
219Leukemia, acute myeloidEnrichmentKRAS, RUNX11.49
220Ovarian cancerEnrichmentAKT1, AR, KRAS1.46
221Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominantEnrichmentTRAF61.46
222Arrhythmogenic right ventricular dysplasia, familial, 1EnrichmentTGFB31.46
223Rhabdomyosarcoma 2EnrichmentFOXO11.46
224Knobloch syndrome 1EnrichmentPAK21.46
225Arrhythmogenic right ventricular dysplasia 1EnrichmentTGFB31.46
226Aggressive systemic mastocytosisEnrichmentRUNX11.46
227Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentRUNX11.46
228Gastric cancerEnrichmentKRAS, SMAD41.43
229Atrial septal defect 1EnrichmentTGFB21.38
230Myopathy, centronuclear, 1EnrichmentMYOD11.38
231Hemihyperplasia, isolatedEnrichmentRHOA1.38
232Wilms tumor 5EnrichmentBRAF1.38
233Inflammatory bowel disease 25, autosomal recessiveEnrichmentTGFB11.38
234PancytopeniaEnrichmentRUNX11.38
235Il10-related early-onset inflammatory bowel diseaseEnrichmentTGFB11.38
236Lung squamous cell carcinomaEnrichmentKRAS1.38
237Classic ehlers-danlos syndromeEnrichmentTGFBR11.38
238Esophageal cancerEnrichmentTGFBR21.31
239Nevus, epidermalEnrichmentKRAS1.31
240Thyroid cancer, nonmedullary, 2EnrichmentBRAF1.31
241Renal cell carcinoma, papillary, 1EnrichmentMTOR1.31
242MegacolonEnrichmentAKT31.31
243Follicular thyroid carcinomaEnrichmentBRAF1.31
244Lymphoma, non-hodgkin, familialEnrichmentBRAF1.26
245Lennox-gastaut syndromeEnrichmentMAPK101.26
246Difference of sex developmentEnrichmentAR1.26
247Cardiomyopathy, familial hypertrophic, 4EnrichmentBRAF1.21
248Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC11.21
249Arteriovenous malformationEnrichmentMAP2K11.21
250Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentRUNX11.21
251Ventricular septal defectEnrichmentBRAF1.21
252Cowden syndromeEnrichmentAKT11.21
253Familial thoracic aortic aneurysm and dissectionEnrichmentSMAD31.21
254Inherited cancer-predisposing syndromeEnrichmentMAX, RUNX1, SMAD41.17
255Myopathy, x-linked, with excessive autophagyEnrichmentMAP2K11.16
256Ciliary dyskinesia, primary, 3EnrichmentNFKB11.16
257PolymicrogyriaEnrichmentAKT31.16
258MelanomaEnrichmentBRAF1.16
259Migraine with or without aura 1EnrichmentESR11.12
260Pectus excavatumEnrichmentTGFBR11.12
26146,xy complete gonadal dysgenesisEnrichmentAR1.12
262Specific learning disabilityEnrichmentMAPK11.12
263Juvenile myelomonocytic leukemiaEnrichmentKRAS1.09
264MeningiomaEnrichmentAKT11.09
265Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentTGFB31.09
266Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentTGFB31.09
267Lip and oral cavity carcinomaEnrichmentBRAF1.09
268Aortic valve disease 1EnrichmentSOS11.05
269Diaphragmatic hernia, congenitalEnrichmentGLI31.05
270Nk-cell enteropathyEnrichmentPIK3CB1.05
271PheochromocytomaEnrichmentMAX1.02
272Aortic aneurysm, familial thoracic 1EnrichmentSMAD31.02
273Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentTGFB31.02
27446,xy partial gonadal dysgenesisEnrichmentSOS11.02
275Renal cell carcinoma, nonpapillaryEnrichmentMTOR1.00
276Polydactyly, postaxial, type a1EnrichmentGLI31.00
277Wilms tumor 1EnrichmentBRAF1.00
278Osteogenesis imperfecta, type iiiEnrichmentCREB3L11.00
279Rare genetic intellectual disabilityEnrichmentMTOR1.00
280Septopreoptic holoprosencephalyEnrichmentFOXH11.00
281Midline interhemispheric variant of holoprosencephalyEnrichmentFOXH11.00
282GliosarcomaEnrichmentPPARG0.97
283Microform holoprosencephalyEnrichmentFOXH10.97
284Lobar holoprosencephalyEnrichmentFOXH10.97
285Dilated cardiomyopathyEnrichmentBRAF, RAF10.96
286Melanoma, cutaneous malignant 1EnrichmentBRAF0.94
287Dandy-walker syndromeEnrichmentBRAF0.94
288Polycystic liver diseaseEnrichmentHNF4A0.94
289Giant cell glioblastomaEnrichmentPPARG0.94
290Autosomal dominant polycystic liver diseaseEnrichmentHNF4A0.94
291Alobar holoprosencephalyEnrichmentFOXH10.94
292Heart, malformation ofEnrichmentMAPK10.92
293Semilobar holoprosencephalyEnrichmentFOXH10.92
294Maturity-onset diabetes of the youngEnrichmentHNF4A0.88
295CraniosynostosisEnrichmentGLI30.88
296Hereditary paraganglioma-pheochromocytoma syndromesEnrichmentMAX0.86
297Myocardial infarctionEnrichmentESR10.84
298Brittle bone disorderEnrichmentCREB3L10.82
299Precursor t-cell acute lymphoblastic leukemiaEnrichmentMYC0.82
300Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF10.80
301Autism spectrum disorderEnrichmentMAP2K1, MEF2C0.74
302Bladder cancerEnrichmentKRAS0.73
303Hirschsprung disease 1EnrichmentGLI30.73
304Prostate cancerEnrichmentAR0.73
305Non-immune hydrops fetalisEnrichmentKRAS0.70
306Cystic fibrosisEnrichmentTGFB10.69
307Familial hypertrophic cardiomyopathyEnrichmentRAF10.68
308Male infertilityEnrichmentAR0.67
309Left ventricular noncompactionEnrichmentRAF10.66
310Fetal akinesia deformation sequence 1EnrichmentMYOD10.64
311Systemic lupus erythematosusEnrichmentENG0.62
312Distal arthrogryposisEnrichmentMYOD10.59
313Nephrotic syndromeEnrichmentRUNX20.58
314Body mass index quantitative trait locus 11EnrichmentPPARG0.52
315Familial isolated dilated cardiomyopathyEnrichmentRAF10.50
316Hereditary breast ovarian cancer syndromeEnrichmentKRAS0.49
317Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentAR0.48
318Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentMEF2C0.47
319MicrocephalyEnrichmentMAPK10.23
320Complex neurodevelopmental disorderEnrichmentPPP2CA0.23

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