Mesodermal commitment pathway

No Pathway Network information available for Mesodermal commitment pathway

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

Disorders associated with Mesodermal commitment pathway SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Microform holoprosencephalyEnrichmentDLL1, FGF8, FGFR1, FOXH1, NODAL, ZIC27.97
2Lobar holoprosencephalyEnrichmentDLL1, FGF8, FGFR1, FOXH1, NODAL, ZIC27.97
3Alobar holoprosencephalyEnrichmentDLL1, FGF8, FOXH1, NODAL, PLCH1, ZIC27.79
4Semilobar holoprosencephalyEnrichmentDLL1, FGF8, FGFR1, FOXH1, NODAL, ZIC27.61
5Peters-plus syndromeEnrichmentBMP4, ELP4, FOXC1, PAX6, PITX27.47
6Microphthalmia/coloboma 12EnrichmentELP4, FZD5, PAX6, RARB, YAP16.78
7Coloboma of maculaEnrichmentELP4, FZD5, PAX6, RARB, YAP16.42
8Septopreoptic holoprosencephalyEnrichmentDLL1, FGF8, FOXH1, NODAL, ZIC26.42
9Midline interhemispheric variant of holoprosencephalyEnrichmentDLL1, FGF8, FOXH1, NODAL, ZIC26.42
10HoloprosencephalyEnrichmentFGF8, FGFR1, ZIC24.91
11Coloboma of optic nerveEnrichmentELP4, FZD5, PAX64.61
12Holoprosencephaly 1EnrichmentFGF8, FGFR1, ZIC24.61
13Anterior segment dysgenesis 5EnrichmentBMP4, ELP4, PAX64.61
14Visceral heterotaxyEnrichmentACVR2B, LEFTY2, NODAL, ZIC34.08
15Keratitis, hereditaryEnrichmentELP4, PAX63.93
16Exostoses, multiple, type iEnrichmentEXT1, EXT23.93
17Foveal hypoplasia 1EnrichmentELP4, PAX63.93
18Axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalitiesEnrichmentFOXC1, PITX23.93
19Optic nerve hypoplasia, bilateralEnrichmentELP4, PAX63.93
20Fibrodysplasia ossificans progressivaEnrichmentACVR1, BMPR23.93
21Axenfeld-rieger syndromeEnrichmentFOXC1, PITX23.93
22Juvenile polyposis syndromeEnrichmentBMPR1A, SMAD43.46
23Osteoporosis, juvenileEnrichmentDKK1, WNT3A3.46
24Anterior segment dysgenesisEnrichmentFOXC1, PAX6, PITX23.29
25Aniridia 1EnrichmentELP4, PAX63.16
26Eyelid colobomaEnrichmentFZD5, PAX63.16
27Lens colobomaEnrichmentFZD5, PAX63.16
28Congenital heart defects, multiple types, 4EnrichmentBMP7, GATA62.94
29AniridiaEnrichmentFOXC1, PAX62.94
30Coloboma of choroid and retinaEnrichmentFZD5, PAX62.94
31Persistent truncus arteriosusEnrichmentGATA6, TBX12.94
32Generalized juvenile polyposis/juvenile polyposis coliEnrichmentBMPR1A, SMAD42.94
33Macs syndromeEnrichmentGDF3, PAX6, SOX22.91
34MicrophthalmiaEnrichmentPAX6, RARB, SOX22.78
35Conotruncal heart malformationsEnrichmentGATA6, TBX12.77
36Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndromeEnrichmentELP4, PAX62.77
37Spondylocostal dysostosis, autosomal recessiveEnrichmentHES7, TBX62.77
38Spastic paraplegia 4, autosomal dominantEnrichmentPHF6, TCF42.50
39Myeloma, multipleEnrichmentBCORL1, CCND1, LATS1, YAP12.50
40Tooth agenesis, selective, 1EnrichmentAXIN2, BMPR22.40
41Loeys-dietz syndromeEnrichmentSMAD2, SMAD32.40
42Cat eye syndromeEnrichmentFZD5, PAX62.30
43Heritable pulmonary arterial hypertensionEnrichmentBMPR2, SOX172.22
44Autism spectrum disorderEnrichmentDIP2A, KDM6A, PBX1, SETD2, TCF42.18
45EpicanthusEnrichmentACVR1, TCF42.14
46Septooptic dysplasiaEnrichmentFGFR1, SOX22.14
47Pulmonary hypertension, primary, 1EnrichmentBMPR2, SOX172.08
48Stereotypic movement disorderEnrichmentJARID2, TCF42.08
49Aortic aneurysm, familial thoracic 1EnrichmentSMAD3, SMAD62.01
50Chiari malformation type iEnrichmentDKK11.97
51Osteoglophonic dysplasiaEnrichmentFGFR11.97
52Acrodysostosis 1 with or without hormone resistanceEnrichmentPRKAR1A1.97
53ChondrosarcomaEnrichmentEXT11.97
54Trigonocephaly 1EnrichmentFGFR11.97
55Velocardiofacial syndromeEnrichmentTBX11.97
56Axenfeld-rieger syndrome, type 1EnrichmentPITX21.97
57Stapes ankylosis with broad thumbs and toesEnrichmentNOG1.97
58Tarsal-carpal coalition syndromeEnrichmentNOG1.97
59Hypertelorism and tetralogy of fallotEnrichmentFOXC11.97
60Borjeson-forssman-lehmann syndromeEnrichmentPHF61.97
61Shukla-vernon syndromeEnrichmentBCORL11.97
62Kabuki syndrome 2EnrichmentKDM6A1.97
63Oligodontia-colorectal cancer syndromeEnrichmentAXIN21.97
64Heterotaxy, visceral, 1, x-linkedEnrichmentZIC31.97
65Carney complex, type 1EnrichmentPRKAR1A1.97
66Polyposis syndrome, hereditary mixed, 2EnrichmentBMPR1A1.97
67Brachydactyly, type b2EnrichmentNOG1.97
68Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual developmentEnrichmentYAP11.97
69Anterior segment dysgenesis 4EnrichmentPITX21.97
70Ectodermal dysplasia/short stature syndromeEnrichmentGRHL21.97
71Symphalangism, proximal, 1aEnrichmentNOG1.97
72Ring dermoid of corneaEnrichmentPITX21.97
73Fanconi renotubular syndrome 4 with maturity-onset diabetes of the youngEnrichmentHNF4A1.97
74Caudal duplication anomalyEnrichmentAXIN11.97
75Multiple synostoses syndrome 1EnrichmentNOG1.97
76Vesicoureteral reflux 3EnrichmentSOX171.97
77Aniridia 2EnrichmentELP41.97
78Microphthalmia, isolated 7EnrichmentGDF31.97
79Radioulnar synostosis, nonsyndromicEnrichmentSMAD61.97
80Atrioventricular septal defect 5EnrichmentGATA61.97
81Khan-khan-katsanis syndromeEnrichmentNCAPG21.97
82Ectodermal dysplasia 17 with or without limb malformationsEnrichmentLEF11.97
83Combined oxidative phosphorylation deficiency 33EnrichmentC1QBP1.97
84Intellectual developmental disorder, autosomal dominant 70EnrichmentSETD21.97
85Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayEnrichmentPBX11.97
86Silver-russell syndrome 5EnrichmentHMGA21.97
87Heterotaxy, visceral, 5, autosomalEnrichmentNODAL1.97
88Acetyl-coa carboxylase-alpha deficiencyEnrichmentACACA1.97
89Immunodeficiency, developmental delay, and hypohomocysteinemiaEnrichmentNFE2L21.97
90Microphthalmia, syndromic 6EnrichmentBMP41.97
91Orofacial cleft 11EnrichmentBMP41.97
92Myxoma, intracardiacEnrichmentPRKAR1A1.97
93Uveal coloboma-cleft lip and palate-intellectual disabilityEnrichmentYAP11.97
94Developmental delay with variable intellectual disability and dysmorphic faciesEnrichmentJARID21.97
95Ovary adenocarcinomaEnrichmentINHBA1.97
96Xia-gibbs syndromeEnrichmentAHDC11.97
97Stature quantitative trait locus 9EnrichmentHMGA21.97
98Klippel-feil syndrome 3, autosomal dominantEnrichmentGDF31.97
99Microphthalmia, syndromic 12EnrichmentRARB1.97
100Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA1.97
101Loeys-dietz syndrome 6EnrichmentSMAD21.97
102Microphthalmia/coloboma 11EnrichmentFZD51.97
103Hypogonadotropic hypogonadism 6 with or without anosmiaEnrichmentFGF81.97
104Corneal dystrophy, fuchs endothelial, 3EnrichmentTCF41.97
105Atrial septal defect 9EnrichmentGATA61.97
106Corneal dystrophy, posterior polymorphous, 4EnrichmentGRHL21.97
107Hartsfield syndromeEnrichmentFGFR11.97
108Hereditary multiple osteochondromasEnrichmentEXT11.97
109Cardioacrofacial dysplasia 1EnrichmentPRKACA1.97
110Lopes-maciel-rodan syndromeEnrichmentHTT1.97
111Hydrocephalus, congenital, 4EnrichmentTRIM711.97
112Holoprosencephaly 14EnrichmentPLCH11.97
113ExostosisEnrichmentEXT11.97
114Peho-like syndromeEnrichmentCCDC88A1.97
115Craniometadiaphyseal osteosclerosis with hip dysplasiaEnrichmentAXIN11.97
116Luscan-lumish syndromeEnrichmentSETD21.97
117Congenital heart defects, multiple types, 8, with or without heterotaxyEnrichmentSMAD21.97
118Rabin-pappas syndromeEnrichmentSETD21.97
119Intellectual developmental disorder, autosomal recessive 81EnrichmentASCC31.97
120Heritable thoracic aortic diseaseEnrichmentSMAD41.97
121Pulmonary hypertension, primary, 7EnrichmentSOX171.97
122Non-acquired combined pituitary hormone deficiencyEnrichmentFOXA21.97
123Neurodevelopmental disorder with speech delay and behavioral abnormalitiesEnrichmentUBR51.97
124Huntington disease-like syndrome due to c9orf72 expansionsEnrichmentC9orf721.97
125Hyperinsulinism due to hnf4a deficiencyEnrichmentHNF4A1.97
126Primary pulmonary hypertensionEnrichmentBMPR21.97
127Pulmonary hypertensionEnrichmentBMPR21.97
128Wilms tumor 7EnrichmentTRIM281.97
129Drug- or toxin-induced pulmonary arterial hypertensionEnrichmentBMPR21.97
130OligoasthenoteratozoospermiaEnrichmentBCORL11.97
131Hereditary multiple exostosesEnrichmentEXT11.97
132Juvenile huntington diseaseEnrichmentHTT1.97
133Hartsfield-bixler-demyer syndromeEnrichmentFGFR11.97
134Autosomal dominant spondylocostal dysostosisEnrichmentTBX61.97
135Microcephaly-polymicrogyria-corpus callosum agenesis syndromeEnrichmentEOMES1.97
136Familial thoracic aortic aneurysm and aortic dissectionEnrichmentSMAD2, SMAD3, SMAD41.92
137Inherited cancer-predisposing syndromeEnrichmentAXIN2, BMPR1A, EXT2, PRKAR1A, SMAD41.84
138Colorectal cancerEnrichmentAXIN2, CCND1, NFE2L2, SMAD41.83
139Heart, malformation ofEnrichmentNODAL, SMAD61.80
140Normosmic congenital hypogonadotropic hypogonadismEnrichmentFGF8, FGFR11.80
141Autosomal dominant non-syndromic intellectual disabilityEnrichmentDLL1, JARID2, TCF41.77
142CraniosynostosisEnrichmentSMAD6, ZNF4621.71
143Ectrodactyly and ectodermal dysplasia without cleft lip/palateEnrichmentLEF11.67
144Exostoses, multiple, type iiEnrichmentEXT21.67
145Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndromeEnrichmentGATA31.67
146Sveinsson chorioretinal atrophyEnrichmentTEAD11.67
147Maturity-onset diabetes of the young, type 1EnrichmentHNF4A1.67
148Myhre syndromeEnrichmentSMAD41.67
149Amelogenesis imperfecta, type igEnrichmentPRKAR1A1.67
150Immunodeficiency-centromeric instability-facial anomalies syndrome 1EnrichmentDNMT3B1.67
151Ulnar-mammary syndromeEnrichmentTBX31.67
152Pulmonary venoocclusive disease 1, autosomal dominantEnrichmentBMPR21.67
153Bladder exstrophy and epispadias complexEnrichmentWNT31.67
154Axenfeld-rieger syndrome, type 3EnrichmentFOXC11.67
155Vacterl association, x-linked, with or without hydrocephalusEnrichmentZIC31.67
156Intellectual developmental disorder, x-linked, syndromic, cabezas typeEnrichmentCUL4B1.67
157Tetraamelia syndrome 1EnrichmentWNT31.67
158Pigmented nodular adrenocortical disease, primary, 1EnrichmentPRKAR1A1.67
159Atrial fibrillation, familial, 1EnrichmentPITX21.67
160Deafness, autosomal dominant 28EnrichmentGRHL21.67
161Chromosome 22q11.2 duplication syndromeEnrichmentTBX11.67
162Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD41.67
163Holoprosencephaly 5EnrichmentZIC21.67
164Lymphedema-distichiasis syndromeEnrichmentFOXC21.67
165Salivary gland adenoma, pleomorphicEnrichmentHMGA21.67
166Pfeiffer syndromeEnrichmentFGFR11.67
167Jackson-weiss syndromeEnrichmentFGFR11.67
168Encephalocraniocutaneous lipomatosisEnrichmentFGFR11.67
169Spondylocostal dysostosis 4, autosomal recessiveEnrichmentHES71.67
170Thrombocythemia 3EnrichmentJAK21.67
171Heterotaxy, visceral, 4, autosomalEnrichmentACVR2B1.67
172Cardiomyopathy, dilated, 1ffEnrichmentKLF51.67
173Loeys-dietz syndrome 3EnrichmentSMAD31.67
174Abdominal obesity-metabolic syndrome 3EnrichmentAHDC11.67
175Cone-rod dystrophy and hearing loss 2EnrichmentCEP2501.67
176Neutropenia, severe congenital, 8, autosomal dominantEnrichmentGATA61.67
177Anterior segment dysgenesis 3EnrichmentFOXC11.67
178Intellectual developmental disorder, autosomal dominant 48EnrichmentRARB1.67
179Lissencephaly 9 with complex brainstem malformationEnrichmentMACF11.67
180Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizuresEnrichmentDLL11.67
181Usher syndrome, type ivEnrichmentPRKAR1A1.67
182Pettigrew syndromeEnrichmentCUL4B1.67
183Pulmonary venoocclusive disease 1EnrichmentBMPR21.67
184Facioscapulohumeral muscular dystrophy 4, digenicEnrichmentDNMT3B1.67
185Split hand-foot malformationEnrichmentLEF11.67
186Rosette-forming glioneuronal tumorEnrichmentFGFR11.67
187Seizures, scoliosis, and macrocephaly/microcephaly syndromeEnrichmentEXT21.67
188AcrodysostosisEnrichmentPRKAR1A1.67
189Microphthalmia/coloboma 6EnrichmentGDF31.67
190Fibrolamellar carcinomaEnrichmentPRKACA1.67
191Aortic valve disease 2EnrichmentSMAD61.67
192B-lymphoblastic leukemia/lymphoma with hyperdiploidyEnrichmentGATA31.67
193Proximal symphalangismEnrichmentNOG1.67
194Hypoparathyroidism-deafness-renal disease syndromeEnrichmentGATA31.67
195PolycythemiaEnrichmentJAK21.67
196Craniosynostosis 7EnrichmentSMAD61.67
197Hereditary mixed polyposis syndromeEnrichmentBMPR1A1.67
198Houge-janssens syndrome 3EnrichmentPPP2CA1.67
199Interfrontal craniofaciosynostosisEnrichmentFGFR11.67
200Weiss-kruszka syndromeEnrichmentZNF4621.67
201Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPRKAR1A1.67
202Radioulnar synostosisEnrichmentSMAD61.67
203B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)EnrichmentPBX11.67
204Autosomal dominant nonsyndromic deafnessEnrichmentGATA31.67
20512q14 microdeletion syndromeEnrichmentHMGA21.67
206Hypereosinophilic syndromeEnrichmentJAK21.67
207HyperinsulinismEnrichmentHNF4A1.67
208Hyperinsulinism due to hnf1a deficiencyEnrichmentHNF4A1.67
209Pulmonary venoocclusive diseaseEnrichmentBMPR21.67
210Renal hypoplasia, bilateralEnrichmentPBX11.67
211Bladder exstrophy-epispadias-cloacal exstrophy complexEnrichmentWNT31.67
212Juvenile polyposis of infancyEnrichmentBMPR1A1.67
213Sleep apneaEnrichmentAHDC11.67
214Idiopathic/heritable pulmonary arterial hypertensionEnrichmentBMPR21.67
215Malignant peritoneal mesotheliomaEnrichmentLATS11.67
216Metopic ridging-ptosis-facial dysmorphism syndromeEnrichmentZNF4621.67
217Tooth agenesisEnrichmentAXIN2, FGFR11.63
218Ovarian cancerEnrichmentAXIN2, BMPR1A, EXT1, EXT21.62
219Kallmann syndromeEnrichmentFGF8, FGFR11.59
220Familial atrial fibrillationEnrichmentGATA6, PITX21.56
221Tetralogy of fallotEnrichmentGATA6, TBX11.50
222Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR11.49
223Spondylocostal dysostosis 5EnrichmentTBX61.49
224Gillespie syndromeEnrichmentPAX61.49
225Polycythemia veraEnrichmentJAK21.49
226Lesch-nyhan syndromeEnrichmentHPRT11.49
227Heart defects, congenital, and other congenital anomaliesEnrichmentGATA61.49
228Hyperuricemia, hprt-relatedEnrichmentHPRT11.49
229Chromosome 8p11 myeloproliferative syndromeEnrichmentFGFR11.49
230Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK21.49
231Dedifferentiated liposarcomaEnrichmentHMGA21.49
232Loeys-dietz syndrome 1EnrichmentSMAD21.49
233Familial vesicoureteral refluxEnrichmentSOX171.49
234End stage renal diseaseEnrichmentGATA31.49
235Tetraamelia syndromeEnrichmentWNT31.49
236Well-differentiated liposarcomaEnrichmentHMGA21.49
237Pulmonary arterial hypertension associated with congenital heart diseaseEnrichmentBMPR21.49
238Isolated klippel-feil syndromeEnrichmentGDF31.49
239Trichorhinophalangeal syndrome, type iiEnrichmentEXT11.37
240Erythrocytosis, familial, 1EnrichmentJAK21.37
241Huntington diseaseEnrichmentHTT1.37
242Microphthalmia, syndromic 3EnrichmentSOX21.37
243Budd-chiari syndromeEnrichmentJAK21.37
244Potocki-shaffer syndromeEnrichmentEXT21.37
245Persistent mullerian duct syndrome, types i and iiEnrichmentAMH1.37
246Pitt-hopkins syndromeEnrichmentTCF41.37
247Maturity-onset diabetes of the young, type 3EnrichmentHNF4A1.37
248Carney complex variantEnrichmentPRKAR1A1.37
249Arrhythmogenic right ventricular dysplasia, familial, 10EnrichmentPRKAR1A1.37
250Mantle cell lymphomaEnrichmentCCND11.37
251Multiple synostoses syndromeEnrichmentNOG1.37
252Malignant epithelioid hemangioendotheliomaEnrichmentYAP11.37
253Retinopathy of prematurityEnrichmentFZD41.37
254Aortic aneurysmEnrichmentSMAD31.37
255Corneal dystrophyEnrichmentGRHL21.37
256Hydrocephalus, congenital, 2, with or without brain or eye anomaliesEnrichmentTRIM711.37
257Persistent mullerian duct syndromeEnrichmentAMH1.37
258Silver-russell syndrome due to a point mutationEnrichmentHMGA21.37
259Middle aortic syndromeEnrichmentGATA61.37
260Isolated congenitally uncorrected transposition of the great arteriesEnrichmentZIC31.37
261Complex neurodevelopmental disorderEnrichmentBCORL1, HTT, JARID2, PPP2CA1.34
262CakutEnrichmentFOXC1, GATA31.28
263Kbg syndromeEnrichmentTBX11.28
264Exudative vitreoretinopathy 1EnrichmentFZD41.28
265Von hippel-lindau syndromeEnrichmentCCND11.28
266Norrie diseaseEnrichmentFZD41.28
267Ventricular septal defect 1EnrichmentBMP71.28
268Cholangitis, primary sclerosingEnrichmentTCF41.28
269Fuchs' endothelial dystrophyEnrichmentTCF41.28
270Congenital ptosisEnrichmentZFHX41.28
271Myeloproliferative neoplasmEnrichmentJAK21.28
272Juvenile glaucomaEnrichmentFOXC11.28
273Persistent hyperplastic primary vitreousEnrichmentFZD41.28
2742q23.1 microduplication syndromeEnrichmentACVR2A1.28
275Primary hypereosinophilic syndromeEnrichmentFGFR11.28
276Kabuki syndrome 1EnrichmentKDM6A1.20
277Corneal dystrophy, posterior polymorphous, 1EnrichmentGRHL21.20
278Facioscapulohumeral muscular dystrophy 1EnrichmentDNMT3B1.20
279Split-hand/foot malformation 1EnrichmentLEF11.20
280Wilms tumor 5EnrichmentTRIM281.20
281Immunodeficiency-centromeric instability-facial anomalies syndromeEnrichmentDNMT3B1.20
282Adrenocortical carcinomaEnrichmentPRKAR1A1.20
283Silver-russell syndrome 1EnrichmentHMGA21.13
284MyelofibrosisEnrichmentJAK21.13
285Coats diseaseEnrichmentFZD41.13
286Semantic dementiaEnrichmentC9orf721.13
287Essential thrombocythemiaEnrichmentJAK21.13
288Gallbladder cancerEnrichmentSMAD41.13
289Hereditary hemorrhagic telangiectasiaEnrichmentSMAD41.13
290Pilomyxoid astrocytomaEnrichmentFGFR11.13
291Congenital hydrocephalusEnrichmentTRIM711.13
292Exudative vitreoretinopathyEnrichmentFZD41.08
293Combined pituitary hormone deficiencyEnrichmentFOXA21.08
294Charge syndromeEnrichmentKDM6A1.03
295Ellis-van creveld syndromeEnrichmentPRKACA1.03
296PolydactylyEnrichmentSMAD61.03
297Leukemia, acute lymphoblastic 3EnrichmentJAK21.03
298Adult hepatocellular carcinomaEnrichmentAXIN11.03
299Hypogonadotropic hypogonadismEnrichmentFGFR11.03
300Progressive non-fluent aphasiaEnrichmentC9orf721.03
301Familial thoracic aortic aneurysm and dissectionEnrichmentSMAD31.03
302Behavioral variant of frontotemporal dementiaEnrichmentC9orf721.03
303Leukemia, chronic lymphocyticEnrichmentCCND10.99
304Frontotemporal dementia and/or amyotrophic lateral sclerosis 1EnrichmentC9orf720.99
305Stickler syndromeEnrichmentBMP40.99
306HypertelorismEnrichmentELP4, PAX60.96
307Meningioma, familialEnrichmentSCHIP10.95
308NanophthalmosEnrichmentSOX20.95
309Familial colorectal cancer type xEnrichmentBMPR1A0.95
310Digeorge syndromeEnrichmentTBX10.91
311Renal hypodysplasia/aplasia 3EnrichmentBMP40.91
312Aortic valve disease 1EnrichmentSMAD60.88
313Diaphragmatic hernia, congenitalEnrichmentGATA60.88
314Acute promyelocytic leukemiaEnrichmentPRKAR1A0.88
315Primary ovarian insufficiencyEnrichmentJAK2, ZNF4620.87
316Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentFGFR10.85
317Cleft lip/palateEnrichmentBMP40.85
318Renal cell carcinoma, nonpapillaryEnrichmentSETD20.82
319Wilms tumor 1EnrichmentTRIM280.82
320Corpus callosum, agenesis ofEnrichmentSETD20.82
321Isolated corpus callosum agenesisEnrichmentSETD20.82
322Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentSETD20.82
323Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentAHDC10.80
324Wolff-parkinson-white syndromeEnrichmentNODAL0.80
325Hydrocephalus, congenital, 1EnrichmentSETD20.80
326GliosarcomaEnrichmentFGFR10.80
327Dandy-walker syndromeEnrichmentSETD20.77
328Polycystic liver diseaseEnrichmentHNF4A0.77
329Giant cell glioblastomaEnrichmentFGFR10.77
330Autosomal dominant polycystic liver diseaseEnrichmentHNF4A0.77
331Patent foramen ovaleEnrichmentGATA60.75
332Congenital myopathyEnrichmentASCC30.73
333Ehlers-danlos syndromeEnrichmentSMAD30.73
334Maturity-onset diabetes of the youngEnrichmentHNF4A0.71
335LissencephalyEnrichmentMACF10.69
336HepatoblastomaEnrichmentEXT20.69
337Hepatocellular carcinomaEnrichmentAXIN10.67
338ScoliosisEnrichmentTBX60.64
339Pancreatic cancerEnrichmentSMAD40.62
340Hydrops fetalis, nonimmuneEnrichmentFOXC20.61
341Bladder cancerEnrichmentKDM6A0.57
342Hirschsprung disease 1EnrichmentAXIN20.57
343Differentiated thyroid carcinomaEnrichmentCCDC60.57
344Visceral heterotaxy 5EnrichmentNODAL0.54
345Non-immune hydrops fetalisEnrichmentFOXC20.54
346Lung cancerEnrichmentNFE2L20.53
347Connective tissue diseaseEnrichmentSMAD30.53
348Usher syndromeEnrichmentCEP2500.52
349NephronophthisisEnrichmentPIAS10.52
350Leukemia, acute myeloidEnrichmentJAK20.45
351Type 2 diabetes mellitusEnrichmentHNF4A0.43
352Gastric cancerEnrichmentSMAD40.43
353Hereditary breast carcinomaEnrichmentZNF4620.42
354MicrocephalyEnrichmentTCF4, ZIC20.41
355ThrombocytopeniaEnrichmentSMAD40.39
356Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentGRHL20.36
357Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentFGF80.34
358Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentC9orf720.33
359AutismEnrichmentJARID20.26
360Breast cancerEnrichmentZNF4620.25
361Dilated cardiomyopathyEnrichmentGATA60.23
362Mitochondrial diseaseEnrichmentC1QBP0.21
363Congenital nervous system abnormalityEnrichmentZIC20.16
364Nervous system diseaseEnrichmentZIC20.16
365Hereditary retinal dystrophyEnrichmentCEP250, FZD40.08
366Fundus dystrophyEnrichmentCEP250, FZD40.08

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