Validated transcriptional targets of deltaNp63 isoforms

No Pathway Network information available for Validated transcriptional targets of deltaNp63 isoforms

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

Disorders associated with Validated transcriptional targets of deltaNp63 isoforms SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Isolated split hand-split foot malformationEnrichmentDLX5, DLX6, TP635.67
2Epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessiveEnrichmentKRT14, KRT54.93
3Epidermolysis bullosa simplex 1b, generalized intermediateEnrichmentKRT14, KRT54.15
4ChordomaEnrichmentBRCA2, TBXT4.15
5Epidermolysis bullosa simplex generalized typeEnrichmentKRT14, KRT54.15
6Pancreatic cancerEnrichmentATM, BRCA2, CDKN2A4.07
7Inherited cancer-predisposing syndromeEnrichmentATM, BRCA2, CDKN2A, MRE11, RUNX14.05
8Epidermolysis bullosa simplex 2f, with mottled pigmentationEnrichmentKRT14, KRT53.93
9Epidermolysis bullosa simplex 1a, generalized severeEnrichmentKRT14, KRT53.93
10Epidermolysis bullosa simplex 1c, localizedEnrichmentKRT14, KRT53.93
11Bladder cancerEnrichmentATM, BRCA2, CDKN2A3.87
12Li-fraumeni syndromeEnrichmentCDKN2A, MDM23.76
13Epidermolysis bullosa simplexEnrichmentKRT14, KRT53.61
14Ovarian cancerEnrichmentATM, BRCA2, CDKN2A, MRE113.39
15Colonic benign neoplasmEnrichmentATM, MRE113.38
16Gastric cancerEnrichmentATM, BRCA2, CDKN2A3.36
17Uterine corpus cancerEnrichmentATM, BRCA23.20
18Familial colorectal cancer type xEnrichmentATM, BRCA23.20
19Breast-ovarian cancer, familial 1EnrichmentATM, BRCA23.05
20Hereditary breast ovarian cancer syndromeEnrichmentATM, BRCA2, MRE113.05
21Myeloma, multipleEnrichmentATM, BRCA2, YAP13.02
22Breast cancerEnrichmentATM, BRCA2, MRE112.66
23Endometrial cancerEnrichmentATM, BRCA22.63
24Colorectal cancerEnrichmentATM, BRCA2, FBXW72.47
25Rapp-hodgkin syndromeEnrichmentTP632.46
26Dermatopathia pigmentosa reticularisEnrichmentKRT142.46
27Ankyloblepharon-ectodermal defects-cleft lip/palateEnrichmentTP632.46
28Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessiveEnrichmentDLX52.46
29Split-hand/foot malformation 4EnrichmentTP632.46
30Ankyloblepharon filiforme adnatum and cleft palateEnrichmentTP632.46
31Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual developmentEnrichmentYAP12.46
32Glioma susceptibility 3EnrichmentBRCA22.46
33Naegeli-franceschetti-jadassohn syndromeEnrichmentKRT142.46
34Adult syndromeEnrichmentTP632.46
35Sacral agenesis with vertebral anomaliesEnrichmentTBXT2.46
36Immunodeficiency-centromeric instability-facial anomalies syndrome 4EnrichmentHELLS2.46
37Accelerated tumor formationEnrichmentMDM22.46
38Lessel-kubisch syndromeEnrichmentMDM22.46
39Pancreatic cancer 2EnrichmentBRCA22.46
40Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3EnrichmentTP632.46
41Uveal coloboma-cleft lip and palate-intellectual disabilityEnrichmentYAP12.46
42Limb-mammary syndromeEnrichmentTP632.46
43Ataxia-telangiectasia-like disorder 1EnrichmentMRE112.46
44Autoimmune disease, multisystem, with facial dysmorphismEnrichmentITCH2.46
45Premature ovarian failure 21EnrichmentTP632.46
46Olmsted syndrome 2EnrichmentPERP2.46
47Endometrial serous adenocarcinomaEnrichmentATM2.46
48Orofacial cleft 8EnrichmentTP632.46
49Erythrokeratodermia variabilis et progressiva 7EnrichmentPERP2.46
50Developmental delay, hypotonia, and impaired languageEnrichmentFBXW72.46
51Cdkn2a cancer predispositionEnrichmentCDKN2A2.46
52Syndromic multisystem autoimmune disease due to itch deficiencyEnrichmentITCH2.46
53RicketsEnrichmentVDR2.46
54Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndromeEnrichmentTBXT2.46
55Tp63-related disordersEnrichmentTP632.46
56B-cell non-hodgkin lymphomaEnrichmentATM2.46
57Split hand-foot malformation 1 with sensorineural hearing lossEnrichmentDLX52.46
58PneumothoraxEnrichmentCOL5A12.46
59Aplasia cutis-enamel dysplasia syndromeEnrichmentFOSL22.46
60Prostate cancerEnrichmentATM, BRCA22.35
61Connective tissue diseaseEnrichmentCOL5A1, NOTCH12.26
62Melanoma-astrocytoma syndromeEnrichmentCDKN2A2.16
63Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1EnrichmentTP632.16
64Storage pool platelet diseaseEnrichmentRUNX12.16
65Epidermolysis bullosa simplex 2e, with migratory circinate erythemaEnrichmentKRT52.16
66Melanoma, cutaneous malignant 2EnrichmentCDKN2A2.16
67Adams-oliver syndrome 5EnrichmentNOTCH12.16
68Fibromuscular dysplasia, multifocalEnrichmentCOL5A12.16
69Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessiveEnrichmentKRT52.16
70Cardiac valvular dysplasia, x-linkedEnrichmentATM2.16
71Sjogren-larsson syndromeEnrichmentKRT142.16
72Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndromeEnrichmentITGA32.16
73Bladder exstrophyEnrichmentTP632.16
74Diffuse midline glioma, h3 k27m-mutantEnrichmentBRCA22.16
75Melanoma-pancreatic cancer syndromeEnrichmentCDKN2A2.16
76High grade gliomaEnrichmentATM2.16
77Fanconi anemia, complementation group d1EnrichmentBRCA22.16
78T-cell prolymphocytic leukemiaEnrichmentATM2.16
79Inflammatory breast carcinomaEnrichmentBRCA22.16
80Fissured tongueEnrichmentTP632.16
81Epidermolysis bullosa simplex 2a, generalized severeEnrichmentKRT52.16
82Bilateral breast cancerEnrichmentBRCA22.16
83Tafro syndromeEnrichmentRUNX12.16
84Neuroendocrine tumor of pancreasEnrichmentBRCA22.16
85Familial thoracic aortic aneurysm and aortic dissectionEnrichmentCOL5A1, NOTCH11.99
86Hereditary breast carcinomaEnrichmentATM, BRCA21.99
87Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiencyEnrichmentADA1.98
88Ataxia-telangiectasiaEnrichmentATM1.98
89Polycythemia veraEnrichmentATM1.98
90Platelet disorder, familial, with associated myeloid malignancyEnrichmentRUNX11.98
91Ehlers-danlos syndrome, classic type, 2EnrichmentCOL5A11.98
92Tumor predisposition syndrome 1EnrichmentBRCA21.98
93Epidermolysis bullosa simplex 2b, generalized intermediateEnrichmentKRT51.98
94Koolen-de vries syndromeEnrichmentATM1.98
95Dedifferentiated liposarcomaEnrichmentMDM21.98
96Mutilating palmoplantar keratoderma with periorificial keratotic plaquesEnrichmentPERP1.98
97AdenocarcinomaEnrichmentATM1.98
98Epidermolysis bullosa simplex 2c, localizedEnrichmentKRT51.98
99Bap1 tumor predisposition syndromeEnrichmentBRCA21.98
100Well-differentiated liposarcomaEnrichmentMDM21.98
101Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with runx1EnrichmentRUNX11.98
102KeratoacanthomaEnrichmentNOTCH11.98
103Dowling-degos disease 1EnrichmentKRT51.86
104Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemiaEnrichmentMRE111.86
105Polyposis syndrome, hereditary mixed, 1EnrichmentBRCA21.86
106CholangiocarcinomaEnrichmentBRCA21.86
107Mantle cell lymphomaEnrichmentATM1.86
108Dowling-degos diseaseEnrichmentKRT51.86
109Malignant epithelioid hemangioendotheliomaEnrichmentYAP11.86
110Nijmegen breakage syndrome-like disorderEnrichmentMRE111.86
111Blood platelet diseaseEnrichmentRUNX11.86
112Adenosine deaminase deficiencyEnrichmentADA1.86
113Cleft lip and alveolusEnrichmentTP631.86
114Oculomotor apraxiaEnrichmentATM1.86
115Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negativeEnrichmentADA1.76
116Vitamin d-dependent rickets, type 2aEnrichmentVDR1.76
117Breast-ovarian cancer, familial 2EnrichmentBRCA21.76
118Pervasive developmental disorderEnrichmentFBXW71.76
119GlioblastomaEnrichmentATM1.76
120Epidermolysis bullosaEnrichmentKRT51.76
121Cleft upper lipEnrichmentTP631.76
122Aggressive systemic mastocytosisEnrichmentRUNX11.76
123Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentRUNX11.76
124Rare pervasive developmental disorderEnrichmentFBXW71.76
125Ehlers-danlos syndrome, classic type, 1EnrichmentCOL5A11.69
126Kabuki syndrome 1EnrichmentBRCA21.69
127Split-hand/foot malformation 1EnrichmentDLX51.69
128Inguinal herniaEnrichmentCOL5A11.69
129Immunodeficiency-centromeric instability-facial anomalies syndromeEnrichmentHELLS1.69
130Pain disorderEnrichmentCOL5A11.69
131PancytopeniaEnrichmentRUNX11.69
132Adrenocortical carcinomaEnrichmentCDKN2A1.69
133Clear cell renal cell carcinomaEnrichmentATM1.69
134Lung squamous cell carcinomaEnrichmentCDKN2A1.69
135Classic ehlers-danlos syndromeEnrichmentCOL5A11.69
136Leukemia, chronic myeloidEnrichmentRUNX11.62
137Renal cell carcinoma, papillary, 1EnrichmentATM1.62
138Adams-oliver syndromeEnrichmentNOTCH11.62
139B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentCDKN2A1.62
140Gastroesophageal refluxEnrichmentCOL5A11.56
141Isolated growth hormone deficiency, type iaEnrichmentBRCA21.56
142Orthostatic intoleranceEnrichmentCOL5A11.56
143Hypoplastic left heart syndromeEnrichmentNOTCH11.56
144Tracheoesophageal fistula with or without esophageal atresiaEnrichmentBRCA21.51
145PolydactylyEnrichmentBRCA21.51
146Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentRUNX11.51
147Lynch syndrome 1EnrichmentATM1.47
148Leukemia, chronic lymphocyticEnrichmentATM1.47
149Omenn syndromeEnrichmentADA1.47
150MelanomaEnrichmentCDKN2A1.47
151Isolated tracheo-esophageal fistulaEnrichmentBRCA21.47
152Immune deficiency diseaseEnrichmentATM1.43
153Leukemia, acute lymphoblasticEnrichmentCDKN2A1.43
154Cutis laxaEnrichmentCOL5A11.39
155Lip and oral cavity carcinomaEnrichmentCDKN2A1.39
156Aortic valve disease 1EnrichmentNOTCH11.36
157Microphthalmia/coloboma 12EnrichmentYAP11.36
158Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactylyEnrichmentCOL5A11.36
159Neural tube defectsEnrichmentTBXT1.36
160Pulmonary disease, chronic obstructiveEnrichmentVDR1.36
161Premature menopauseEnrichmentTP631.36
162ClubfootEnrichmentCOL5A11.36
163Nk-cell enteropathyEnrichmentAXL1.36
164MedulloblastomaEnrichmentBRCA21.32
165Aortic aneurysm, familial thoracic 1EnrichmentNOTCH11.32
166CataractEnrichmentCOL5A11.32
167Cleft lip/palateEnrichmentTP631.32
168Coloboma of maculaEnrichmentYAP11.29
169Renal cell carcinoma, nonpapillaryEnrichmentATM1.29
170Wilms tumor 1EnrichmentBRCA21.29
171Male infertility with spermatogenesis disorderEnrichmentTP631.29
172RhabdomyosarcomaEnrichmentBRCA21.27
173GliosarcomaEnrichmentATM1.27
174Melanoma, cutaneous malignant 1EnrichmentCDKN2A1.24
175Giant cell glioblastomaEnrichmentATM1.24
176Diffuse large b-cell lymphomaEnrichmentBRCA21.19
177Esophageal atresia/tracheoesophageal fistulaEnrichmentBRCA21.19
178Ehlers-danlos syndromeEnrichmentCOL5A11.19
179HepatoblastomaEnrichmentBRCA21.15
180Hepatocellular carcinomaEnrichmentVDR1.13
181Skin diseaseEnrichmentKRT141.13
182Precursor t-cell acute lymphoblastic leukemiaEnrichmentCDKN2A1.11
183Tetralogy of fallotEnrichmentNOTCH11.06
184Severe combined immunodeficiencyEnrichmentADA0.97
185Fanconi anemia, complementation group aEnrichmentBRCA20.94
186Cerebral palsyEnrichmentBRCA20.90
187Leukemia, acute myeloidEnrichmentRUNX10.89
188Nephrotic syndromeEnrichmentITGA30.86
189ThrombocytopeniaEnrichmentRUNX10.81
190Primary ovarian insufficiencyEnrichmentTP630.73

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