Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)

Pathway network for the Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF) SuperPath

Sources:
  • Reactome
  • GeneGo (Thomson Reuters)
  • WikiPathways

Pathways in the Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF) SuperPath

#NameSourceGenes
1Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)Reactome
2Transcription Ligand-dependent activation of the ESR1/SP pathwayGeneGo (Thomson Reuters)
3Regulation of MITF-M-dependent genes involved in pigmentationReactome
4ATP-dependent chromatin remodelersReactome
5Tumor suppressor activity of SMARCB1WikiPathways
6SWI/SNF chromatin remodelersReactome
7Development Ligand-dependent activation of the ESR1/AP-1 pathwayGeneGo (Thomson Reuters)
8Formation of the embryonic stem cell BAF (esBAF) complexReactome
9Formation of the polybromo-BAF (pBAF) complexReactome
10Formation of the canonical BAF (cBAF) complexReactome
11Formation of the non-canonical BAF (ncBAF) complexReactome
12GLI proteins bind promoters of Hh responsive genes to promote transcriptionReactome

Gene overlap in member pathways for Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF) SuperPath

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

Disorders associated with Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF) SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Coffin-siris syndrome 1EnrichmentARID1A, ARID1B, DPF2, SMARCA4, SMARCB1, SMARCD1, SMARCE111.06
2Inherited cancer-predisposing syndromeEnrichmentCDK4, CDKN2A, EZH2, PTCH1, RB1, SMARCA4, SMARCB1, SMARCE19.37
3AlbinismEnrichmentDCT, GPR143, TYR, TYRP18.92
4Postaxial polydactyly type bEnrichmentGLI1, GLI37.49
5Albinism, ocular, type iEnrichmentGPR143, TYR, TYRP16.26
6Waardenburg syndrome, type 2eEnrichmentMITF, SOX10, TYR6.02
7Rhabdoid tumor predisposition syndromeEnrichmentSMARCA4, SMARCB15.78
8MeningiomaEnrichmentSMARCB1, SMARCE1, SMO5.63
9Rare genetic intellectual disabilityEnrichmentARID1B, CREBBP, EP3005.61
10Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentARID1A, ARID1B, BCL11A5.52
11Polydactyly, postaxial, type a1EnrichmentGLI1, GLI35.47
12Bryant-li-bhoj neurodevelopmental syndrome 2EnrichmentH3-3A, H3-3B5.30
13CraniosynostosisEnrichmentGLI2, GLI35.21
14Griscelli syndrome, type 3EnrichmentMLPH, MYO5A5.03
15Melanoma, cutaneous malignant 8EnrichmentMITF, TYR5.03
16Nicolaides-baraitser syndromeEnrichmentARID1B, SMARCA25.00
17BlepharophimosisEnrichmentARID1B, SMARCA25.00
18Smarca2-related nicolaides-baraitser syndromeEnrichmentARID1B, SMARCA25.00
19Weaver syndromeEnrichmentEZH2, SUZ124.82
20Umbilical herniaEnrichmentACTL6A, GLI34.82
21Waardenburg syndrome, type 2aEnrichmentMITF, SOX104.55
22Bladder cancerEnrichmentARID1A, CDKN2A, RB14.42
23Autism spectrum disorderEnrichmentACTL6B, ARID1B, BCL11B, SMARCB14.36
24Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3004.31
25Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3004.31
26HypertrichosisEnrichmentARID1B, CREBBP4.31
27MicrocephalyEnrichmentACTB, ARID1A, ARID1B, BCL11B4.15
28Ovarian cancerEnrichmentCDKN2A, PTCH1, RB1, SMARCB14.11
29Atrial heart septal defectEnrichmentACTL6A, SMARCA44.09
30Interatrial communicationEnrichmentACTL6A, SMARCA44.09
31Meningioma, familialEnrichmentSMARCB1, SMARCE14.04
32Congenital hydrocephalusEnrichmentPTCH1, SMARCC13.98
33Waardenburg syndrome, type 4aEnrichmentMITF, SOX103.86
34Waardenburg syndromeEnrichmentMITF, SOX103.86
35Cowden syndrome 1EnrichmentEGFR, LDLR3.80
36Waardenburg syndrome, type 1EnrichmentMITF, SOX103.71
37Oculocutaneous albinismEnrichmentTYR, TYRP13.71
38Pallister-hall syndromeEnrichmentGLI33.66
39Greig cephalopolysyndactyly syndromeEnrichmentGLI33.66
40Polydactyly, preaxial ivEnrichmentGLI33.66
41Polydactyly, preaxial iEnrichmentGLI13.66
42Culler-jones syndromeEnrichmentGLI23.66
43Polydactyly, postaxial, type a8EnrichmentGLI13.66
44Holoprosencephaly 9EnrichmentGLI23.66
45Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeEnrichmentGLI23.66
46Lip and oral cavity carcinomaEnrichmentCDKN2A, RB13.48
47Corpus callosum, agenesis ofEnrichmentARID1B, BCL11A3.47
48Isolated corpus callosum agenesisEnrichmentARID1B, BCL11A3.47
49Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentARID1B, BCL11A3.47
50White-sutton syndromeEnrichmentGLI23.35
51Tibial hemimeliaEnrichmentGLI33.35
52SynpolydactylyEnrichmentGLI33.35
53Septopreoptic holoprosencephalyEnrichmentGLI2, PTCH13.28
54Midline interhemispheric variant of holoprosencephalyEnrichmentGLI2, PTCH13.28
55Microform holoprosencephalyEnrichmentGLI2, PTCH13.23
56Lobar holoprosencephalyEnrichmentGLI2, PTCH13.23
57Acrocallosal syndromeEnrichmentGLI33.18
58Aarskog-scott syndromeEnrichmentGLI33.18
59Melanoma, cutaneous malignant 1EnrichmentCDK4, CDKN2A3.17
60Alobar holoprosencephalyEnrichmentGLI2, PTCH13.17
61Semilobar holoprosencephalyEnrichmentGLI2, PTCH13.12
62Hypercholesterolemia, familial, 1EnrichmentLDLR, SMARCA43.09
63Familial hypercholesterolemiaEnrichmentLDLR, SMARCA42.96
64TorticollisEnrichmentACTL6A2.90
65Baraitser-winter syndrome 1EnrichmentACTB2.90
66Coffin-siris syndrome 11EnrichmentSMARCD12.90
67Hydrocephalus, congenital, 5EnrichmentSMARCC12.90
68Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB2.90
69Becker nevus syndromeEnrichmentACTB2.90
70Dystonia-deafness syndrome 1EnrichmentACTB2.90
71Smarca4-deficient sarcoma of thoraxEnrichmentSMARCA42.90
72Ovarian small cell carcinomaEnrichmentSMARCA42.90
73Blepharophimosis-impaired intellectual development syndromeEnrichmentSMARCA22.90
74Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB2.90
75Baraitser-winter syndromeEnrichmentACTB2.90
76Autosomal recessive severe congenital neutropeniaEnrichmentSMARCD22.90
77Congenital smooth muscle hamartomaEnrichmentACTB2.90
78Developmental malformations-deafness-dystonia syndromeEnrichmentACTB2.90
79Coffin-siris syndrome 5EnrichmentSMARCE12.88
80Rhabdoid tumor predisposition syndrome 1EnrichmentSMARCB12.88
81NeurilemmomaEnrichmentSMARCB12.88
82Coffin-siris syndrome 3EnrichmentSMARCB12.88
83Facial cleftEnrichmentSMARCE12.88
84Arid1b-related disorderEnrichmentARID1B2.88
85Coffin-siris syndrome 7EnrichmentDPF22.88
86Fetal hemoglobin quantitative trait locus 5EnrichmentBCL11A2.85
87Immunodeficiency 49, severe combinedEnrichmentBCL11B2.85
88Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalitiesEnrichmentBCL11B2.85
89Intellectual developmental disorder with persistence of fetal hemoglobinEnrichmentBCL11A2.85
90Bcl11a-related intellectual disabilityEnrichmentBCL11A2.85
91Combined pituitary hormone deficiencyEnrichmentGLI22.75
92Intellectual developmental disorder with severe speech and ambulation defectsEnrichmentACTL6B2.73
93Chromosome 2q37 deletion syndromeEnrichmentHDAC42.73
94Congenital anomalies of kidney and urinary tract 3EnrichmentNRIP12.73
95Menke-hennekam syndrome 1EnrichmentCREBBP2.73
96Neurodevelopmental disorder with central hypotonia and dysmorphic faciesEnrichmentHDAC42.73
97Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP2.73
98Menke-hennekam syndromeEnrichmentCREBBP2.73
99Hirschsprung disease 1EnrichmentGLI3, SMO2.70
100Ellis-van creveld syndromeEnrichmentGLI12.70
101Curry-jones syndromeEnrichmentSMO2.64
102Melanoma, cutaneous malignant 3EnrichmentCDK42.64
103Schilbach-rott syndromeEnrichmentPTCH12.64
104Microcephaly 12, primary, autosomal recessiveEnrichmentCDK62.64
105Imagawa-matsumoto syndromeEnrichmentSUZ122.64
106Cohen-gibson syndromeEnrichmentEED2.64
107Bryant-li-bhoj neurodevelopmental syndrome 1EnrichmentH3-3A2.64
108Trilateral retinoblastomaEnrichmentRB12.64
109Cdkn2a cancer predispositionEnrichmentCDKN2A2.64
110Turner syndromeEnrichmentPTCH12.64
111Monosomy 9q22.3EnrichmentPTCH12.64
112Lung oat cell carcinomaEnrichmentRB12.64
113Alopecia, androgenetic, 1EnrichmentSMARCD12.60
114Specific granule deficiency 1EnrichmentSMARCD22.60
115Rhabdoid tumor predisposition syndrome 2EnrichmentSMARCA42.60
116Specific granule deficiency 2EnrichmentSMARCD22.60
117Coffin-siris syndrome 8EnrichmentSMARCC22.60
118Otosclerosis 12EnrichmentSMARCA42.60
119Coffin-siris syndrome 4EnrichmentSMARCA42.60
120Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB2.60
121Blepharophimosis - intellectual disability syndromeEnrichmentSMARCA22.60
122Coffin-siris syndrome 12EnrichmentBICRA2.60
123Specific granule deficiencyEnrichmentSMARCD22.60
124Schwannomatosis 1EnrichmentSMARCB12.58
125Coffin-siris syndrome 6EnrichmentARID22.58
126Malignant granular cell myoblastomaEnrichmentBRD72.58
127Granular cell carcinomaEnrichmentBRD72.58
128TrichomegalyEnrichmentARID1B2.58
129Chromosome 6q24-q25 deletion syndromeEnrichmentARID1B2.58
130Severe combined immunodeficiency with sensitivity to ionizing radiationEnrichmentARID1B2.58
131Diaphragmatic hernia, congenitalEnrichmentGLI32.54
132Colorectal cancerEnrichmentARID1A, CCND1, EP3002.53
133Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT22.51
134Nystagmus 6, congenital, x-linkedEnrichmentGPR1432.51
135Griscelli syndrome, type 2EnrichmentRAB27A2.51
136Hyperlipidemia, familial combined, 1EnrichmentUSF12.51
137Albinism, oculocutaneous, type ibEnrichmentTYR2.51
138Skin/hair/eye pigmentation, variation in, 8EnrichmentIRF42.51
139Heterochromia iridisEnrichmentMITF2.51
140Tietz albinism-deafness syndromeEnrichmentMITF2.51
141Griscelli syndrome, type 1EnrichmentMYO5A2.51
142Elejalde neuroectodermal melanolysosomal syndromeEnrichmentMYO5A2.51
143Ectodermal dysplasia 17 with or without limb malformationsEnrichmentLEF12.51
144Skin/hair/eye pigmentation, variation in, 3EnrichmentTYR2.51
145Immunodeficiency 131EnrichmentIRF42.51
146Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafnessEnrichmentMITF2.51
147Griscelli syndromeEnrichmentRAB27A2.51
148Adenoid ameloblastomaEnrichmentCTNNB12.51
149Minimal pigment oculocutaneous albinism type 1EnrichmentTYR2.51
150Whipple diseaseEnrichmentIRF42.51
151Microcystic stromal tumorEnrichmentCTNNB12.51
152Hypopigmentation of the skinEnrichmentTYR2.51
153Akt2-related familial partial lipodystrophyEnrichmentAKT22.51
154Van esch-o'driscoll syndromeEnrichmentPOLA12.48
155Multiple fibroadenomas of the breastEnrichmentPRLR2.48
156Pigmentary disorder, reticulate, with systemic manifestations, x-linkedEnrichmentPOLA12.48
157HyperprolactinemiaEnrichmentPRLR2.48
158Microvascular complications of diabetes 1EnrichmentVEGFA2.48
159Familial hyperprolactinemiaEnrichmentPRLR2.48
160Developmental and epileptic encephalopathy 76EnrichmentACTL6B2.43
161Thumb deformityEnrichmentCREBBP2.43
162Hypotonia, ataxia, developmental delay, and tooth enamel defect syndromeEnrichmentCTBP12.43
163Menke-hennekam syndrome 2EnrichmentEP3002.43
164Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP2.43
165Sarcoma, synovialEnrichmentSS182.43
166Atypical teratoid rhabdoid tumorEnrichmentSMARCB12.40
167Desmoplastic/nodular medulloblastomaEnrichmentARID22.40
168SchwannomatosisEnrichmentSMARCB12.40
169Nail disorder, nonsyndromic congenital, 9EnrichmentARID1B2.40
170Coffin-siris syndrome 2EnrichmentARID1A2.40
171Periventricular leukomalaciaEnrichmentARID1A2.40
172Gastric cancerEnrichmentCDK4, CDKN2A2.37
173Melanoma-astrocytoma syndromeEnrichmentCDKN2A2.34
174Pallister-hall-like syndromeEnrichmentSMO2.34
175Melanoma, cutaneous malignant 2EnrichmentCDKN2A2.34
176Chromosome 13q14 deletion syndromeEnrichmentRB12.34
177Melanoma-pancreatic cancer syndromeEnrichmentCDKN2A2.34
178Familial retinoblastomaEnrichmentRB12.34
179Myeloma, multipleEnrichmentCREBBP, HDAC42.33
180Aminoacylase 1 deficiencyEnrichmentACTB2.30
181Pseudomyogenic hemangioendotheliomaEnrichmentACTB2.30
182Full schwannomatosisEnrichmentSMARCB12.28
183Clear cell papillary renal cell carcinomaEnrichmentPBRM12.28
184Estrogen resistanceEnrichmentESR12.26
185Tethered spinal cord syndromeEnrichmentCREBBP2.26
186Intraocular pressure quantitative trait locusEnrichmentCREBBP2.26
187Migraine without auraEnrichmentESR12.26
188Ectrodactyly and ectodermal dysplasia without cleft lip/palateEnrichmentLEF12.21
189Albinism, oculocutaneous, type iiiEnrichmentTYRP12.21
190Osteopathia striata with cranial sclerosisEnrichmentCTNNB12.21
191Histiocytoma, angiomatoid fibrousEnrichmentCREB12.21
192Waardenburg syndrome, type 4cEnrichmentSOX102.21
193Albinism, oculocutaneous, type iaEnrichmentTYR2.21
194Skin/hair/eye pigmentation, variation in, 11EnrichmentTYRP12.21
195Oculocutaneous albinism, type viiiEnrichmentDCT2.21
196Childhood hepatocellular carcinomaEnrichmentCTNNB12.21
197Split hand-foot malformationEnrichmentLEF12.21
198Papillary renal cell carcinomaEnrichmentMITF2.21
199Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung diseaseEnrichmentSOX102.21
200EsotropiaEnrichmentTFAP2A2.21
201Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB12.21
202TeratomaEnrichmentCTNNB12.21
203Lens subluxationEnrichmentTFAP2A2.21
204Developmental and epileptic encephalopathy 50EnrichmentCAD2.18
205Hyperlipoproteinemia, type iiiEnrichmentLDLR2.18
206Primordial dwarfism-immunodeficiency-lipodystrophy syndromeEnrichmentPRIM12.18
207Dyskeratosis congenita, digenicEnrichmentTYMS2.18
208RetinoblastomaEnrichmentRB12.16
209Osteogenic sarcomaEnrichmentRB12.16
210Holoprosencephaly 7EnrichmentPTCH12.16
211Woolly hair, autosomal recessive 3EnrichmentRB12.16
212Hypotrichosis 8EnrichmentRB12.16
213Dedifferentiated liposarcomaEnrichmentCDK42.16
214Squamous cell carcinomaEnrichmentRB12.16
215Bone osteosarcomaEnrichmentRB12.16
216Well-differentiated liposarcomaEnrichmentCDK42.16
217Hereditary persistence of fetal hemoglobin-sickle cell disease syndromeEnrichmentBCL11A2.16
218Lipodystrophy, congenital generalized, type 2EnrichmentACTL6B2.13
219Congenital generalized lipodystrophyEnrichmentFOS2.13
220Arthrogryposis multiplex congenita 3, myogenic typeEnrichmentESR12.13
221Inguinal herniaEnrichmentACTL6A2.13
222AutismEnrichmentACTL6B, CREBBP2.11
223Clear cell renal cell carcinomaEnrichmentPBRM12.10
224Wiedemann-steiner syndromeEnrichmentARID1B2.10
225Breast cancerEnrichmentESR1, JUN2.08
226Polydactyly, preaxial iiEnrichmentPTCH12.04
227Small cell cancer of the lungEnrichmentRB12.04
228Lynch syndrome 4EnrichmentRB12.04
229Rubinstein-taybi syndrome 2EnrichmentEP3002.04
230Histiocytoid hemangiomaEnrichmentFOS2.04
231Desmoid disease, hereditaryEnrichmentCTNNB12.03
232Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB12.03
233Anus, imperforateEnrichmentCTNNB12.03
234Exudative vitreoretinopathy 7EnrichmentCTNNB12.03
235Desmoid tumorEnrichmentCTNNB12.03
236Melanoma of soft tissueEnrichmentCREB12.03
237Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiencyEnrichmentADA2.00
238Hypercholesterolemia, familial, 2EnrichmentLDLR2.00
239Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasiaEnrichmentLDLR2.00
240Partington syndromeEnrichmentPOLA12.00
241Hypercholesterolemia, familial, 4EnrichmentLDLR2.00
242Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR2.00
243Syndromic x-linked intellectual disability najm typeEnrichmentLDLR2.00
244Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR2.00
245EnchondromatosisEnrichmentHIF1A2.00
246Gastroesophageal refluxEnrichmentACTL6A2.00
247NeuroblastomaEnrichmentSMARCA42.00
248Wolf-hirschhorn syndromeEnrichmentCTBP11.96
249Ventricular septal defectEnrichmentSMARCA41.95
250Endometrial stromal sarcomaEnrichmentSUZ121.94
251Branchiooculofacial syndromeEnrichmentTFAP2A1.91
252PilomatrixomaEnrichmentCTNNB11.91
253Alazami syndromeEnrichmentCTNNB11.91
254CraniopharyngiomaEnrichmentCTNNB11.91
255Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentGLI21.91
256Mantle cell lymphomaEnrichmentCCND11.88
257Adenosine deaminase deficiencyEnrichmentADA1.88
258Li-fraumeni syndromeEnrichmentCDKN2A1.87
259Basal cell nevus syndrome 1EnrichmentPTCH11.87
260Basal cell carcinoma 1EnrichmentPTCH11.87
261Adrenocortical carcinomaEnrichmentCDKN2A1.87
262Lung squamous cell carcinomaEnrichmentCDKN2A1.87
263Combined immunodeficiencyEnrichmentBCL11B1.82
264Combined t cell and b cell immunodeficiencyEnrichmentBCL11B1.82
265Combined t and b cell immunodeficiencyEnrichmentBCL11B1.82
266Hyperlipidemia, familial combined, 3EnrichmentUSF11.81
267Exudative vitreoretinopathy 1EnrichmentCTNNB11.81
268Albinism, oculocutaneous, type iiEnrichmentTYRP11.81
269Hypogonadotropic hypogonadism 1 with or without anosmiaEnrichmentSOX101.81
270AmblyopiaEnrichmentTFAP2A1.81
271Septooptic dysplasiaEnrichmentARID1A1.80
272Overgrowth syndromeEnrichmentPTCH11.80
273B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentCDKN2A1.80
274Charge syndromeEnrichmentEP3001.78
275Enchondromatosis, multiple, ollier typeEnrichmentHIF1A1.78
276Von hippel-lindau syndromeEnrichmentCCND11.78
277Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negativeEnrichmentADA1.78
278Nk-cell enteropathyEnrichmentSMARCB11.77
279Pituitary stalk interruption syndromeEnrichmentSMARCA21.76
280Glioma susceptibility 1EnrichmentH3-3A1.74
281Branchiootorenal syndrome 1EnrichmentTFAP2A1.73
282Weyers acrofacial dysostosisEnrichmentCTNNB11.73
283Split-hand/foot malformation 1EnrichmentLEF11.73
284Renal cell carcinoma, nonpapillaryEnrichmentPBRM11.70
285Lipid metabolism disorderEnrichmentLDLR1.70
286Migraine with or without aura 1EnrichmentESR11.70
287Cleft palate, isolatedEnrichmentSMARCA41.68
288Branchiootorenal syndromeEnrichmentTFAP2A1.67
289Gallbladder cancerEnrichmentCTNNB11.67
290Complex neurodevelopmental disorderEnrichmentACTL6A, ACTL6B1.66
291MelanomaEnrichmentCDKN2A1.65
292Squamous cell carcinoma, head and neckEnrichmentEGFR1.64
293Multiple enchondromatosis, maffucci typeEnrichmentHIF1A1.64
294Exudative vitreoretinopathyEnrichmentCTNNB11.61
295Rare genetic deafnessEnrichmentMITF, SOX101.61
296Leukemia, acute lymphoblasticEnrichmentCDKN2A1.60
297Heart diseaseEnrichmentCREBBP1.59
298Homozygous familial hypercholesterolemiaEnrichmentLDLR1.58
299Adult hepatocellular carcinomaEnrichmentCTNNB11.56
300Coronary heart disease 5EnrichmentLDLR1.53
301Cat eye syndromeEnrichmentTFAP2A1.52
302Optic nerve diseaseEnrichmentTYR1.52
303MedulloblastomaEnrichmentPTCH11.50
304Lung cancer susceptibility 3EnrichmentRB11.50
305Leukemia, chronic lymphocyticEnrichmentCCND11.49
306Omenn syndromeEnrichmentADA1.49
307Hydrops fetalis, nonimmuneEnrichmentARID1A1.47
308Diffuse large b-cell lymphomaEnrichmentCREBBP1.46
309Lung non-small cell carcinomaEnrichmentEGFR1.44
310RhabdomyosarcomaEnrichmentPTCH11.44
311EpicanthusEnrichmentTFAP2A1.44
312Myocardial infarctionEnrichmentESR11.40
313Non-immune hydrops fetalisEnrichmentARID1A1.39
314Acute promyelocytic leukemiaEnrichmentRARA1.37
315ScoliosisEnrichmentCREBBP1.36
316Macs syndromeEnrichmentPTCH11.35
317MyopiaEnrichmentTYR1.34
318Seckel syndromeEnrichmentPRIM11.34
319Cerebral palsyEnrichmentSMARCA41.32
320MicrophthalmiaEnrichmentPTCH11.31
321Precursor t-cell acute lymphoblastic leukemiaEnrichmentCDKN2A1.29
322Polycystic liver diseaseEnrichmentCTNNB11.29
323Autosomal dominant polycystic liver diseaseEnrichmentCTNNB11.29
324GliosarcomaEnrichmentEGFR1.29
325Giant cell glioblastomaEnrichmentEGFR1.26
326Pancreatic cancerEnrichmentCDKN2A1.25
327CakutEnrichmentNRIP11.22
328Arteriovenous malformations of the brainEnrichmentEGFR1.21
329Dyskeratosis congenitaEnrichmentTYMS1.21
330HepatoblastomaEnrichmentCTNNB11.20
331Hepatocellular carcinomaEnrichmentCTNNB11.18
332Multisystem inflammatory syndrome in childrenEnrichmentRAB27A1.18
333Skin diseaseEnrichmentTYR1.18
334Kallmann syndromeEnrichmentSOX101.16
335Primary autosomal recessive microcephalyEnrichmentCDK61.15
336Ear malformationEnrichmentMITF1.14
337Autoinflammatory diseaseEnrichmentRAB27A1.14
338Hereditary breast carcinomaEnrichmentESR11.11
339Developmental and epileptic encephalopathy 1EnrichmentCAD1.10
340StrabismusEnrichmentTYR1.09
341Undetermined early-onset epileptic encephalopathyEnrichmentACTL6B1.01
342Lung cancerEnrichmentEGFR1.00
343DystoniaEnrichmentMYO5A0.99
344Eye diseaseEnrichmentTYR0.99
345Severe combined immunodeficiencyEnrichmentADA0.98
346Non-syndromic genetic deafnessEnrichmentMITF0.98
347Hereditary breast ovarian cancer syndromeEnrichmentPTCH10.93
348Type 2 diabetes mellitusEnrichmentAKT20.91
349Nonsyndromic hearing lossEnrichmentMITF0.91
350HypertelorismEnrichmentTFAP2A0.83
351Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentMITF0.83
352Congenital nervous system abnormalityEnrichmentCREBBP0.75
353Nervous system diseaseEnrichmentCREBBP0.75
354Primary ovarian insufficiencyEnrichmentPRLR0.75

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