Endoderm differentiation

No Pathway Network information available for Endoderm differentiation

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

Disorders associated with Endoderm differentiation SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Congenital heart defects, multiple types, 4EnrichmentBMP7, GATA4, GATA65.87
2Aortic aneurysm, familial thoracic 1EnrichmentGATA4, NOTCH1, SMAD34.32
3Familial thoracic aortic aneurysm and aortic dissectionEnrichmentNOTCH1, SMAD2, SMAD3, SMAD44.10
4Desmoid disease, hereditaryEnrichmentAPC, CTNNB14.09
5Juvenile polyposis syndromeEnrichmentBMPR1A, SMAD44.09
6Chromosome 17q12 deletion syndromeEnrichmentHNF1B, LHX14.09
7Desmoid tumorEnrichmentAPC, CTNNB14.09
8Macs syndromeEnrichmentGDF3, OTX2, SOX23.83
9CraniopharyngiomaEnrichmentAPC, CTNNB13.79
10Ovarian cancerEnrichmentAPC, BMPR1A, CTNNB1, EXT1, HNF1B3.74
11Ventricular septal defect 1EnrichmentBMP7, GATA43.57
12Generalized juvenile polyposis/juvenile polyposis coliEnrichmentBMPR1A, SMAD43.57
13Tetralogy of fallotEnrichmentGATA4, GATA6, NOTCH13.48
14Gallbladder cancerEnrichmentCTNNB1, SMAD43.25
15Inherited cancer-predisposing syndromeEnrichmentAPC, BMPR1A, CDC73, EZH2, SMAD43.20
16Combined pituitary hormone deficiencyEnrichmentFOXA2, OTX23.13
17Loeys-dietz syndromeEnrichmentSMAD2, SMAD33.02
18NanophthalmosEnrichmentOTX2, SOX22.84
19Septooptic dysplasiaEnrichmentOTX2, SOX22.76
20MedulloblastomaEnrichmentAPC, CTNNB12.63
2146,xy partial gonadal dysgenesisEnrichmentGATA4, OTX22.63
22Septopreoptic holoprosencephalyEnrichmentFOXH1, NODAL2.57
23Midline interhemispheric variant of holoprosencephalyEnrichmentFOXH1, NODAL2.57
24Microform holoprosencephalyEnrichmentFOXH1, NODAL2.51
25Lobar holoprosencephalyEnrichmentFOXH1, NODAL2.51
26Alobar holoprosencephalyEnrichmentFOXH1, NODAL2.46
27Heart, malformation ofEnrichmentGATA4, NODAL2.41
28Patent foramen ovaleEnrichmentGATA4, GATA62.41
29Semilobar holoprosencephalyEnrichmentFOXH1, NODAL2.41
30Chiari malformation type iEnrichmentDKK12.28
31ChondrosarcomaEnrichmentEXT12.28
32Stapes ankylosis with broad thumbs and toesEnrichmentNOG2.28
33Tarsal-carpal coalition syndromeEnrichmentNOG2.28
34Parathyroid carcinomaEnrichmentCDC732.28
35Tooth agenesis, selective, 3EnrichmentPAX92.28
36Polyposis syndrome, hereditary mixed, 2EnrichmentBMPR1A2.28
37Brachydactyly, type b2EnrichmentNOG2.28
38Hyperparathyroidism 2 with jaw tumorsEnrichmentCDC732.28
39Prostate cancer, hereditary, 11EnrichmentHNF1B2.28
40Symphalangism, proximal, 1aEnrichmentNOG2.28
41Glucocorticoid resistance, generalizedEnrichmentNR3C12.28
42Multiple synostoses syndrome 1EnrichmentNOG2.28
43Vesicoureteral reflux 3EnrichmentSOX172.28
44Microphthalmia, isolated 7EnrichmentGDF32.28
45Atrioventricular septal defect 4EnrichmentGATA42.28
46Atrioventricular septal defect 5EnrichmentGATA62.28
47Ectodermal dysplasia 17 with or without limb malformationsEnrichmentLEF12.28
48Heterotaxy, visceral, 5, autosomalEnrichmentNODAL2.28
49Developmental delay with variable intellectual disability and dysmorphic faciesEnrichmentJARID22.28
50Microphthalmia, syndromic 5EnrichmentOTX22.28
51Athabaskan brainstem dysgenesis syndromeEnrichmentHOXA12.28
52Cerebral amyloid angiopathy, app-relatedEnrichmentAPP2.28
53Atrial septal defect 2EnrichmentGATA42.28
54Immunodeficiency 31aEnrichmentSTAT12.28
55Klippel-feil syndrome 3, autosomal dominantEnrichmentGDF32.28
56Pituitary hormone deficiency, combined, 6EnrichmentOTX22.28
57Testicular anomalies with or without congenital heart diseaseEnrichmentGATA42.28
58Brachydactyly, type e2EnrichmentPTHLH2.28
59Loeys-dietz syndrome 6EnrichmentSMAD22.28
60Immunodeficiency 31bEnrichmentSTAT12.28
61Cdc73-related disordersEnrichmentCDC732.28
62Atrial septal defect 9EnrichmentGATA62.28
63Hereditary multiple osteochondromasEnrichmentEXT12.28
648p23.1 microdeletion syndromeEnrichmentGATA42.28
65ExostosisEnrichmentEXT12.28
66Immunodeficiency 88EnrichmentTBX212.28
67Congenital heart defects, multiple types, 8, with or without heterotaxyEnrichmentSMAD22.28
68Adenoid ameloblastomaEnrichmentCTNNB12.28
69Heritable thoracic aortic diseaseEnrichmentSMAD42.28
70Pulmonary hypertension, primary, 7EnrichmentSOX172.28
71Non-acquired combined pituitary hormone deficiencyEnrichmentFOXA22.28
72Familial adenomatous polyposisEnrichmentAPC2.28
73Partial atrioventricular septal defect with ventricular hypoplasiaEnrichmentGATA42.28
74Hereditary multiple exostosesEnrichmentEXT12.28
75Bosley-salih-alorainy syndromeEnrichmentHOXA12.28
76Gardner syndromeEnrichmentAPC2.28
77Medullary sponge kidneyEnrichmentHNF1B2.28
785q22 microdeletion syndromeEnrichmentAPC2.28
79Attenuated familial adenomatous polyposisEnrichmentAPC2.28
80Renal dysplasia, bilateralEnrichmentHNF1B2.28
81Unilateral multicystic dysplastic kidneyEnrichmentHNF1B2.28
82Renal dysplasia, unilateralEnrichmentHNF1B2.28
83Microcephaly-polymicrogyria-corpus callosum agenesis syndromeEnrichmentEOMES2.28
84Microcystic stromal tumorEnrichmentCTNNB12.28
85HepatoblastomaEnrichmentAPC, CTNNB12.27
86Hepatocellular carcinomaEnrichmentAPC, CTNNB12.23
87MicrophthalmiaEnrichmentOTX2, SOX22.23
88Familial atrial fibrillationEnrichmentGATA4, GATA62.16
89Tubulointerstitial kidney disease, autosomal dominant 1EnrichmentHNF1B1.98
90Cerebral amyloid angiopathy, cst3-relatedEnrichmentAPP1.98
91Ectrodactyly and ectodermal dysplasia without cleft lip/palateEnrichmentLEF11.98
92Exostoses, multiple, type iEnrichmentEXT11.98
93Renal cysts and diabetes syndromeEnrichmentHNF1B1.98
94Congenital anomalies of kidney and urinary tract 2EnrichmentHNF1B1.98
95Myhre syndromeEnrichmentSMAD41.98
96Camurati-engelmann disease 1EnrichmentTGFB11.98
97Galactosemia iiEnrichmentNR3C11.98
98Agnathia-otocephaly complexEnrichmentOTX21.98
99Bladder exstrophy and epispadias complexEnrichmentWNT31.98
100Osteopathia striata with cranial sclerosisEnrichmentCTNNB11.98
101Tetraamelia syndrome 1EnrichmentWNT31.98
102Hyperparathyroidism 1EnrichmentCDC731.98
103Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD41.98
104Adams-oliver syndrome 5EnrichmentNOTCH11.98
105Loeys-dietz syndrome 3EnrichmentSMAD31.98
106Immunodeficiency 31cEnrichmentSTAT11.98
107Neutropenia, severe congenital, 8, autosomal dominantEnrichmentGATA61.98
108Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB11.98
109Hyperuricemic nephropathy, familial juvenile, 3EnrichmentHNF1B1.98
110Childhood hepatocellular carcinomaEnrichmentCTNNB11.98
111Split hand-foot malformationEnrichmentLEF11.98
112Camurati-engelmann diseaseEnrichmentTGFB11.98
11346,xy sex reversal 3EnrichmentGATA41.98
114Microphthalmia/coloboma 6EnrichmentGDF31.98
115Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunctionEnrichmentNKX2-11.98
116Periampullary adenomaEnrichmentAPC1.98
117Gastric adenocarcinoma and proximal polyposis of the stomachEnrichmentAPC1.98
118Proximal symphalangismEnrichmentNOG1.98
11917q24.2 microdeletion syndromeEnrichmentBPTF1.98
120Hereditary mixed polyposis syndromeEnrichmentBMPR1A1.98
121Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB11.98
122TeratomaEnrichmentCTNNB11.98
123Bladder exstrophy-epispadias-cloacal exstrophy complexEnrichmentWNT31.98
124Juvenile polyposis of infancyEnrichmentBMPR1A1.98
125Nkx2-1-related disordersEnrichmentNKX2-11.98
126Colorectal cancerEnrichmentAPC, CTNNB1, SMAD41.97
127Connective tissue diseaseEnrichmentNOTCH1, SMAD31.92
128Brachydactyly, type e1EnrichmentPTHLH1.81
129Asthma, nasal polyps, and aspirin intoleranceEnrichmentTBX211.81
130Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomaliesEnrichmentHNF1B1.81
131Weaver syndromeEnrichmentEZH21.81
132Heart defects, congenital, and other congenital anomaliesEnrichmentGATA61.81
133Osteoporosis, juvenileEnrichmentDKK11.81
134Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.81
135Cenani-lenz syndactyly syndromeEnrichmentAPC1.81
136Anus, imperforateEnrichmentCTNNB11.81
137Exudative vitreoretinopathy 7EnrichmentCTNNB11.81
138Loeys-dietz syndrome 1EnrichmentSMAD21.81
139Chromophobe renal cell carcinomaEnrichmentHNF1B1.81
140Familial vesicoureteral refluxEnrichmentSOX171.81
141Parathyroid adenomaEnrichmentCDC731.81
142Butterfly-shaped pigment dystrophyEnrichmentOTX21.81
143Tetraamelia syndromeEnrichmentWNT31.81
144Familial isolated hyperparathyroidismEnrichmentCDC731.81
145Colon adenocarcinomaEnrichmentAPC1.81
146KeratoacanthomaEnrichmentNOTCH11.81
147Isolated klippel-feil syndromeEnrichmentGDF31.81
148Apc-associated polyposis conditionsEnrichmentAPC1.81
149Kaposi sarcomaEnrichmentBPTF1.68
150Trichorhinophalangeal syndrome, type iiEnrichmentEXT11.68
151Chorea, benign hereditaryEnrichmentNKX2-11.68
152Microphthalmia, syndromic 3EnrichmentSOX21.68
153Thyroid cancer, nonmedullary, 1EnrichmentNKX2-11.68
154PilomatrixomaEnrichmentCTNNB11.68
155Alazami syndromeEnrichmentCTNNB11.68
156Multiple synostoses syndromeEnrichmentNOG1.68
157Hereditary ataxiaEnrichmentNKX2-11.68
158Aortic aneurysmEnrichmentSMAD31.68
159Transposition of the great arteriesEnrichmentGATA41.68
160Middle aortic syndromeEnrichmentGATA61.68
161Gastric cancerEnrichmentAPC, SMAD41.67
162Hereditary breast carcinomaEnrichmentAPC, CDC731.65
163Exudative vitreoretinopathy 1EnrichmentCTNNB11.59
164Familial adenomatous polyposis 1EnrichmentAPC1.59
165Persistent truncus arteriosusEnrichmentGATA61.59
166Weyers acrofacial dysostosisEnrichmentCTNNB11.51
167Conotruncal heart malformationsEnrichmentGATA61.51
168Split-hand/foot malformation 1EnrichmentLEF11.51
169AnxietyEnrichmentOTX21.51
170Inflammatory bowel disease 25, autosomal recessiveEnrichmentTGFB11.51
171Adrenocortical carcinomaEnrichmentCTNNB11.51
172Chronic mucocutaneous candidiasisEnrichmentSTAT11.51
173Il10-related early-onset inflammatory bowel diseaseEnrichmentTGFB11.51
174Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentGATA4, LEO11.46
175Multiple endocrine neoplasia, type iEnrichmentCDC731.44
176Hypothyroidism, congenital, nongoitrous, 2EnrichmentNKX2-11.44
177Adams-oliver syndromeEnrichmentNOTCH11.44
178Alzheimer's disease 1EnrichmentAPP1.44
179Hereditary hemorrhagic telangiectasiaEnrichmentSMAD41.44
180Early-onset autosomal dominant alzheimer diseaseEnrichmentAPP1.44
181Exudative vitreoretinopathyEnrichmentCTNNB11.39
182Choreatic diseaseEnrichmentNKX2-11.39
183Hypoplastic left heart syndromeEnrichmentNOTCH11.39
184Tooth agenesis, selective, 1EnrichmentPAX91.34
185Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentBPTF1.34
186Adult hepatocellular carcinomaEnrichmentCTNNB11.34
187Primary hyperaldosteronismEnrichmentNR3C11.34
188Colonic benign neoplasmEnrichmentAPC1.34
189Familial thoracic aortic aneurysm and dissectionEnrichmentSMAD31.34
190Heritable pulmonary arterial hypertensionEnrichmentSOX171.25
191Familial colorectal cancer type xEnrichmentBMPR1A1.25
192Breast cancerEnrichmentAPC, CDC731.23
193Aortic valve disease 1EnrichmentNOTCH11.18
194Diaphragmatic hernia, congenitalEnrichmentGATA61.18
195Pulmonary hypertension, primary, 1EnrichmentSOX171.18
196Alzheimer's diseaseEnrichmentAPP1.18
197Stereotypic movement disorderEnrichmentJARID21.18
198Heart diseaseEnrichmentGATA41.15
199Renal cell carcinoma, nonpapillaryEnrichmentHNF1B1.12
200Wilms tumor 1EnrichmentCTR91.12
201Wolff-parkinson-white syndromeEnrichmentNODAL1.09
202Alzheimer disease, familial, 1EnrichmentAPP1.07
203Polycystic liver diseaseEnrichmentCTNNB11.07
204Autosomal dominant polycystic liver diseaseEnrichmentCTNNB11.07
205Ehlers-danlos syndromeEnrichmentSMAD31.02
206Maturity-onset diabetes of the youngEnrichmentHNF1B1.00
207Visceral heterotaxyEnrichmentNODAL0.96
208Tooth agenesisEnrichmentPAX90.96
209Pancreatic cancerEnrichmentSMAD40.91
210Complex neurodevelopmental disorderEnrichmentCTR9, JARID20.86
211Bladder cancerEnrichmentCTNNB10.85
212Prostate cancerEnrichmentHNF1B0.85
213Differentiated thyroid carcinomaEnrichmentNKX2-10.85
214Visceral heterotaxy 5EnrichmentNODAL0.82
215Cystic fibrosisEnrichmentTGFB10.81
216CakutEnrichmentHNF1B0.79
217Type 2 diabetes mellitusEnrichmentHNF1B0.70
218ThrombocytopeniaEnrichmentSMAD40.65
219Autosomal dominant non-syndromic intellectual disabilityEnrichmentJARID20.64
220Myeloma, multipleEnrichmentNKX2-10.59
221AutismEnrichmentJARID20.50
222Dilated cardiomyopathyEnrichmentGATA60.46
223Leber plus diseaseEnrichmentOTX20.40
224Congenital nervous system abnormalityEnrichmentCTNNB10.37
225Nervous system diseaseEnrichmentCTNNB10.37
226MicrocephalyEnrichmentCTNNB10.32

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