Mesenchymal Stem Cells and Lineage-specific Markers

No Pathway Network information available for Mesenchymal Stem Cells and Lineage-specific Markers

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

Disorders associated with Mesenchymal Stem Cells and Lineage-specific Markers SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Ventricular septal defect 1EnrichmentBMP2, BMP7, GATA45.48
2Atrial septal defect 1EnrichmentBMP2, TBX5, TGFB25.18
3Stickler syndromeEnrichmentBMP4, COL2A1, VCAN4.41
4Spondyloepimetaphyseal dysplasia, strudwick typeEnrichmentCOL2A1, FN14.31
5Spondylometaphyseal dysplasia, corner fracture typeEnrichmentCOL2A1, FN14.31
6Loeys-dietz syndrome 4EnrichmentTGFB2, TGFB34.31
7Proximal symphalangismEnrichmentGDF5, NOG4.31
8Familial hypertrophic cardiomyopathyEnrichmentDES, MYL3, TNNI3, TNNT24.10
9Heart diseaseEnrichmentGATA4, NKX2-5, TBX53.94
10Dilated cardiomyopathyEnrichmentDES, NKX2-5, TBX5, TNNI3, TNNT23.62
11Familial thoracic aortic aneurysm and aortic dissectionEnrichmentACTA2, BGN, TGFB2, TGFB33.61
12Heart, malformation ofEnrichmentCOL2A1, GATA4, TBX53.60
13Patent foramen ovaleEnrichmentGATA4, NKX2-5, TBX53.60
14Brachydactyly, type a2EnrichmentBMP2, GDF53.54
15Leptin deficiency or dysfunctionEnrichmentLEP, PPARG3.54
16Multiple synostoses syndromeEnrichmentGDF5, NOG3.54
17Arteriovenous malformations of the brainEnrichmentCDH2, ENG, IL63.53
18Rhabdomyosarcoma 2EnrichmentPAX3, PAX73.32
19Atrioventricular septal defectEnrichmentBMP5, TBX53.32
20Congenital heart defects, multiple types, 4EnrichmentBMP7, GATA43.32
21Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentCEBPA, KIT3.32
22Type 1 diabetes mellitusEnrichmentIL6, INS3.15
23Familial isolated restrictive cardiomyopathyEnrichmentTNNI3, TNNT23.00
24Hemochromatosis, type 1EnrichmentBMP2, BMP62.88
25MyocarditisEnrichmentTNNI3, TNNT22.88
26Hypoplastic left heart syndromeEnrichmentGJA1, NKX2-52.88
27Connective tissue diseaseEnrichmentACTA2, COL2A1, SOX92.85
28Cardiomyopathy, familial hypertrophic, 4EnrichmentTNNI3, TNNT22.77
29Loeys-dietz syndromeEnrichmentTGFB2, TGFB32.77
30Left ventricular noncompactionEnrichmentNKX2-5, TNNI3, TNNT22.73
31Marfan syndromeEnrichmentCOL2A1, TGFB22.68
32Systemic lupus erythematosusEnrichmentENG, ITGAM, SPP12.60
33Atrial heart septal defectEnrichmentNKX2-5, TBX52.59
34Interatrial communicationEnrichmentNKX2-5, TBX52.59
35MeningiomaEnrichmentBAP1, PDGFB2.51
36Restrictive cardiomyopathyEnrichmentTNNI3, TNNT22.51
37Type 2 diabetes mellitusEnrichmentIL6, PPARG, SLC2A42.50
38Hypertrophic cardiomyopathyEnrichmentMYL3, TNNI3, TNNT22.47
39Osteogenesis imperfecta, type ivEnrichmentSP7, SPARC2.44
40Lung cancer susceptibility 3EnrichmentACTA2, FGF102.38
41Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentCDH2, TGFB32.38
4246,xy partial gonadal dysgenesisEnrichmentGATA4, SOX92.38
43Septopreoptic holoprosencephalyEnrichmentCRIPTO, FGF82.32
44Midline interhemispheric variant of holoprosencephalyEnrichmentCRIPTO, FGF82.32
45Microform holoprosencephalyEnrichmentCRIPTO, FGF82.26
46Lobar holoprosencephalyEnrichmentCRIPTO, FGF82.26
47Familial isolated dilated cardiomyopathyEnrichmentDES, TNNI3, TNNT22.22
48Alobar holoprosencephalyEnrichmentCRIPTO, FGF82.21
49Semilobar holoprosencephalyEnrichmentCRIPTO, FGF82.16
50Palmoplantar keratoderma and congenital alopecia 1EnrichmentGJA12.15
51Stickler syndrome, type iEnrichmentCOL2A12.15
52Cardiomyopathy, familial hypertrophic, 2EnrichmentTNNT22.15
53Short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecansEnrichmentACAN2.15
54Craniofacial-deafness-hand syndromeEnrichmentPAX32.15
55Parietal foramina with cleidocranial dysplasiaEnrichmentMSX22.15
56Atrial septal defect 7 with or without atrioventricular conduction defectsEnrichmentNKX2-52.15
57Waardenburg syndrome, type 3EnrichmentPAX32.15
58Epiphyseal dysplasia, multiple, with myopia and conductive deafnessEnrichmentCOL2A12.15
59Mullerian aplasia and hyperandrogenismEnrichmentWNT42.15
60Hypoplastic left heart syndrome 1EnrichmentGJA12.15
61Spondylometaphyseal dysplasia, algerian typeEnrichmentCOL2A12.15
62Stapes ankylosis with broad thumbs and toesEnrichmentNOG2.15
63Tarsal-carpal coalition syndromeEnrichmentNOG2.15
64Hypothyroidism, congenital, nongoitrous, 5EnrichmentNKX2-52.15
65Systemic lupus erythematosus 6EnrichmentITGAM2.15
66Osteoarthritis with mild chondrodysplasiaEnrichmentCOL2A12.15
67Avascular necrosis of femoral head, primary, 1EnrichmentCOL2A12.15
68Hypomagnesemia 4, renalEnrichmentEGF2.15
69Cardiomyopathy, dilated, 2aEnrichmentTNNI32.15
70Czech dysplasiaEnrichmentCOL2A12.15
71Angel-shaped phalangoepiphyseal dysplasiaEnrichmentGDF52.15
7246,xx sex reversal with dysgenesis of kidneys, adrenals, and lungsEnrichmentWNT42.15
73Mastocytosis, cutaneousEnrichmentKIT2.15
74Cardiomyopathy, familial hypertrophic, 8EnrichmentMYL32.15
75Cardiomyopathy, familial restrictive, 3EnrichmentTNNT22.15
76Intellectual developmental disorder, autosomal dominant 3EnrichmentCDH152.15
77Melanoma, uveal 2EnrichmentBAP12.15
78Holt-oram syndromeEnrichmentTBX52.15
79Brachydactyly, type b2EnrichmentNOG2.15
80Oculodentodigital dysplasiaEnrichmentGJA12.15
81Kniest dysplasiaEnrichmentCOL2A12.15
82Raph blood group systemEnrichmentCD1512.15
83Cardiomyopathy, familial hypertrophic, 7EnrichmentTNNI32.15
84Basal ganglia calcification, idiopathic, 5EnrichmentPDGFB2.15
85Parietal foramina 1EnrichmentMSX22.15
86Platyspondylic lethal skeletal dysplasia, torrance typeEnrichmentCOL2A12.15
87Split-hand/foot malformation 6EnrichmentWNT10B2.15
88Lamb-shaffer syndromeEnrichmentSOX52.15
89Symphalangism, proximal, 1aEnrichmentNOG2.15
90Spondyloepiphyseal dysplasia, stanescu typeEnrichmentCOL2A12.15
91Multiple synostoses syndrome 1EnrichmentNOG2.15
92Tooth agenesis, selective, 8EnrichmentWNT10B2.15
93Scapuloperoneal syndrome, neurogenic, kaeser typeEnrichmentDES2.15
94Agammaglobulinemia 3, autosomal recessiveEnrichmentCD79A2.15
95Atrioventricular septal defect 4EnrichmentGATA42.15
96Aplasia of lacrimal and salivary glandsEnrichmentFGF102.15
97Achondrogenesis, type iiEnrichmentCOL2A12.15
98Craniometaphyseal dysplasia, autosomal recessiveEnrichmentGJA12.15
9946,xy sex reversal 10EnrichmentSOX92.15
100Amegakaryocytic thrombocytopenia, congenital, 2EnrichmentTHPO2.15
101Tolchin-le caignec syndromeEnrichmentSOX62.15
10246,xx sex reversal 2EnrichmentSOX92.15
103Meester-loeys syndromeEnrichmentBGN2.15
104Microphthalmia, syndromic 6EnrichmentBMP42.15
105Spondyloperipheral dysplasiaEnrichmentCOL2A12.15
106Agenesis of corpus callosum, cardiac, ocular, and genital syndromeEnrichmentCDH22.15
107Orofacial cleft 11EnrichmentBMP42.15
108Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired languageEnrichmentMEF2C2.15
109Oculodentodigital dysplasia, autosomal recessiveEnrichmentGJA12.15
110Lacrimoauriculodentodigital syndrome 3EnrichmentFGF102.15
111Spondyloepimetaphyseal dysplasia, aggrecan typeEnrichmentACAN2.15
112Camurati-engelmann disease 2EnrichmentTGFB22.15
113Spondyloepiphyseal dysplasia, kimberley typeEnrichmentACAN2.15
114Craniosynostosis 2EnrichmentMSX22.15
115Ophthalmoplegia, external, with rib and vertebral anomaliesEnrichmentMYF52.15
116Birdshot chorioretinopathyEnrichmentHLA-A2.15
117Congenital myopathy 19EnrichmentPAX72.15
118Epidermolysis bullosa simplex 7, with nephropathy and deafnessEnrichmentCD1512.15
119Atrial septal defect 2EnrichmentGATA42.15
120Stickler syndrome, type i, nonsyndromic ocularEnrichmentCOL2A12.15
121Arrhythmogenic right ventricular dysplasia, familial, 14EnrichmentCDH22.15
122Ventricular septal defect 3EnrichmentNKX2-52.15
123Iron overloadEnrichmentBMP62.15
124Hereditary thrombocytosis with transverse limb defectEnrichmentTHPO2.15
125Congenital myopathy 17EnrichmentMYOD12.15
126Testicular anomalies with or without congenital heart diseaseEnrichmentGATA42.15
127Immunodeficiency, common variable, 3EnrichmentCD192.15
128Hypogonadotropic hypogonadism 6 with or without anosmiaEnrichmentFGF82.15
129Immunodeficiency 105, severe combinedEnrichmentPTPRC2.15
130Hypoplastic left heart syndrome 2EnrichmentNKX2-52.15
131Loeys-dietz syndrome 5EnrichmentTGFB32.15
13220p12.3 microdeletion syndromeEnrichmentBMP22.15
1338p23.1 microdeletion syndromeEnrichmentGATA42.15
134Erythrokeratodermia variabilis et progressiva 3EnrichmentGJA12.15
135Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1EnrichmentBMP22.15
136Cd45 deficiencyEnrichmentPTPRC2.15
137Chronic mast cell leukemiaEnrichmentKIT2.15
138Vitreoretinopathy with phalangeal epiphyseal dysplasiaEnrichmentCOL2A12.15
139Attention deficit-hyperactivity disorder 8EnrichmentCDH22.15
140Thrombocytopenia 9EnrichmentTHPO2.15
141Pparg-associated congenital generalized lipodystrophyEnrichmentPPARG2.15
142Short-rib thoracic dysplasia 22 without polydactylyEnrichmentFGF42.15
1435q14.3 microdeletion syndromeEnrichmentMEF2C2.15
144Aortic arch interruptionEnrichmentNKX2-52.15
145Isolated bone marrow mastocytosisEnrichmentKIT2.15
146Autosomal dominant rhegmatogenous retinal detachmentEnrichmentCOL2A12.15
147Smoldering systemic mastocytosisEnrichmentKIT2.15
148Multiple epiphyseal dysplasia with myopia and deafnessEnrichmentCOL2A12.15
149Complete atrioventricular septal defect without ventricular hypoplasiaEnrichmentMEF2C2.15
150HypochondrogenesisEnrichmentCOL2A12.15
151Agammaglobulinemia 3EnrichmentCD79A2.15
152Acute myeloid leukemia with mutated cebpaEnrichmentCEBPA2.15
153Atrial heart septal defect 7EnrichmentNKX2-52.15
154MastocytosisEnrichmentKIT2.15
155Partial atrioventricular septal defect with ventricular hypoplasiaEnrichmentGATA42.15
156Osteochondritis dissecansEnrichmentACAN2.15
157DysspondyloenchondromatosisEnrichmentCOL2A12.15
158Cutaneous mastocytomaEnrichmentKIT2.15
159Typical urticaria pigmentosaEnrichmentKIT2.15
160Mef2c-related disorderEnrichmentMEF2C2.15
161Nodular urticaria pigmentosaEnrichmentKIT2.15
162Type 2 collagen-related bone disorderEnrichmentCOL2A12.15
163Pseudoxanthomatous diffuse cutaneous mastocytosisEnrichmentKIT2.15
164Telangiectasia macularis eruptiva perstansEnrichmentKIT2.15
165Acute mast cell leukemiaEnrichmentKIT2.15
166Short stature-advanced bone age-early-onset osteoarthritis syndromeEnrichmentACAN2.15
167Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF2.15
168Plaque-form urticaria pigmentosaEnrichmentKIT2.15
169Interstitial lung disease specific to childhoodEnrichmentFGF102.15
170Bullous diffuse cutaneous mastocytosisEnrichmentKIT2.15
171Testis seminomaEnrichmentKIT2.15
172Cardiomyopathy, dilated, 1aEnrichmentLPL, TNNI32.03
173Cardiomyopathy, familial hypertrophic, 1EnrichmentTNNI3, TNNT21.92
174Familial atrial fibrillationEnrichmentGATA4, NKX2-51.92
175ScoliosisEnrichmentCOL2A1, MYF51.92
176Hypoparathyroidism, familial isolated, 1EnrichmentPTH1.86
177Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactylyEnrichmentRUNX21.86
178Cardiomyopathy, familial restrictive, 1EnrichmentTNNI31.86
179Wagner vitreoretinopathyEnrichmentVCAN1.86
180Campomelic dysplasiaEnrichmentSOX91.86
181Camurati-engelmann disease 1EnrichmentTGFB11.86
182Hyperlipoproteinemia, type iEnrichmentLPL1.86
183Craniodiaphyseal dysplasiaEnrichmentSP71.86
184Otospondylomegaepiphyseal dysplasia, autosomal recessiveEnrichmentCOL2A11.86
185Thumb deformityEnrichmentTBX51.86
186Spondyloepimetaphyseal dysplasia, x-linkedEnrichmentBGN1.86
187Pulmonary hypoplasia, primaryEnrichmentFGF101.86
188Carotid intimal medial thickness 1EnrichmentPPARG1.86
189Dermatofibrosarcoma protuberansEnrichmentPDGFB1.86
190Severe cutaneous adverse reactionEnrichmentHLA-A1.86
191Pulmonary arteriovenous fistulasEnrichmentENG1.86
192Aortic aneurysm, familial thoracic 2EnrichmentACTA21.86
193Piebald traitEnrichmentKIT1.86
194Corneal dystrophy, congenital stromalEnrichmentDCN1.86
195Legg-calve-perthes diseaseEnrichmentCOL2A11.86
196Multiple synostoses syndrome 2EnrichmentGDF51.86
197Smooth muscle dysfunction syndromeEnrichmentACTA21.86
198Osteogenesis imperfecta, type xiiEnrichmentSP71.86
199Aortic aneurysm, familial thoracic 6EnrichmentACTA21.86
200Hallermann-streiff syndromeEnrichmentGJA11.86
201Cardiomyopathy, dilated, 1iEnrichmentDES1.86
202Lipase deficiency, combinedEnrichmentLPL1.86
203Cardiomyopathy, familial hypertrophic, 25EnrichmentTNNI31.86
204Otospondylomegaepiphyseal dysplasia, autosomal dominantEnrichmentCOL2A11.86
205Maturity-onset diabetes of the young, type 10EnrichmentINS1.86
206Moyamoya disease 5EnrichmentACTA21.86
207Cardiomyopathy, dilated, 1ddEnrichmentTNNT21.86
208Schwartz-jampel syndrome, type 1EnrichmentHSPG21.86
209Syndactyly, type iiiEnrichmentGJA11.86
210Syndactyly, type vEnrichmentGJA11.86
211Brachydactyly, type a1, cEnrichmentGDF51.86
212Cardiomyopathy, dilated, 1ffEnrichmentTNNI31.86
213Symphalangism, proximal, 1bEnrichmentGDF51.86
214Cardiomyopathy, dilated, 1dEnrichmentTNNT21.86
215HyperproinsulinemiaEnrichmentINS1.86
216Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB11.86
217Craniometaphyseal dysplasiaEnrichmentGJA11.86
218Parietal foraminaEnrichmentMSX21.86
219Progressive familial heart blockEnrichmentDES1.86
220Osteogenesis imperfecta, type xviiEnrichmentSPARC1.86
221Camurati-engelmann diseaseEnrichmentTGFB11.86
22246,xy sex reversal 3EnrichmentGATA41.86
223Immunodeficiency 104, severe combinedEnrichmentPTPRC1.86
224Ocular melanomaEnrichmentBAP11.86
225Diabetes mellitus, permanent neonatal, 4EnrichmentINS1.86
226Familial avascular necrosis of the femoral headEnrichmentCOL2A11.86
227Familial lipoprotein lipase deficiencyEnrichmentLPL1.86
228Aortic valve disease 2EnrichmentTBX51.86
229Craniosynostosis 7EnrichmentBMP21.86
230Congenital amegakaryocytic thrombocytopeniaEnrichmentTHPO1.86
231Familial isolated congenital aspleniaEnrichmentNKX2-51.86
232Kury-isidor syndromeEnrichmentBAP11.86
233Wagner diseaseEnrichmentVCAN1.86
234Common variable immunodeficiency phenotype due to cd19/cd81 deficiencyEnrichmentCD191.86
235Familial partial lipodystrophyEnrichmentPPARG1.86
236Growth delay due to insulin-like growth factor type 1 deficiencyEnrichmentIGF11.86
237Deletion 5q35EnrichmentNKX2-51.86
238B-lymphoblastic leukemia/lymphoma with tEnrichmentKIT1.86
239Campomelic dysplasia and related disordersEnrichmentSOX91.86
240Tetralogy of fallotEnrichmentGATA4, NKX2-51.85
241Brachydactyly, type a1EnrichmentGDF51.68
242Cleidocranial dysplasia 1EnrichmentRUNX21.68
243Lacrimoauriculodentodigital syndrome 1EnrichmentFGF101.68
244Mccune-albright syndromeEnrichmentCOL2A11.68
245Brachydactyly, type cEnrichmentGDF51.68
246Type 1 diabetes mellitus 2EnrichmentINS1.68
247Mesothelioma, malignantEnrichmentBAP11.68
248Spondyloepiphyseal dysplasia congenitaEnrichmentCOL2A11.68
249Acromesomelic dysplasia 2aEnrichmentGDF51.68
250Thrombocythemia 1EnrichmentTHPO1.68
251Acromesomelic dysplasia 2cEnrichmentGDF51.68
252Acromesomelic dysplasia 2bEnrichmentGDF51.68
253Dyssegmental dysplasia, silverman-handmaker typeEnrichmentHSPG21.68
254Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomaliesEnrichmentWNT41.68
255Microphthalmia, syndromic 9EnrichmentWNT7B1.68
25646,xx sex reversal 1EnrichmentSOX91.68
257Myopathy, myofibrillar, 1EnrichmentDES1.68
258Glomerulopathy with fibronectin deposits 2EnrichmentFN11.68
259Transposition of the great arteries, dextro-loopedEnrichmentBMP21.68
260Adiponectin deficiencyEnrichmentADIPOQ1.68
261Dyskeratosis congenita, autosomal dominant 6EnrichmentTHPO1.68
262Tumor predisposition syndrome 1EnrichmentBAP11.68
263Familial isolated hypoparathyroidismEnrichmentPTH1.68
264Testicular germ cell cancerEnrichmentKIT1.68
265Cleidocranial dysplasiaEnrichmentRUNX21.68
266Bap1 tumor predisposition syndromeEnrichmentBAP11.68
267Multiple epiphyseal dysplasiaEnrichmentCOL2A11.68
268Kaposi sarcomaEnrichmentIL61.56
269Autoimmune lymphoproliferative syndromeEnrichmentACTA21.56
270Microtia-anotiaEnrichmentBMP51.56
271Lipodystrophy, familial partial, type 3EnrichmentPPARG1.56
272Congenital generalized lipodystrophyEnrichmentPPARG1.56
273Neonatal diabetes mellitusEnrichmentINS1.56
274Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentKIT1.56
275Hereditary progressive cardiac conduction defectEnrichmentNKX2-51.56
276Coronary artery anomalyEnrichmentLPL1.56
277Mitral valve insufficiencyEnrichmentTBX51.56
278Pediatric systemic lupus erythematosusEnrichmentSPP11.56
279Primary hyperparathyroidismEnrichmentPTH1.56
280Systemic mastocytosis with associated hematologic neoplasmEnrichmentKIT1.56
281Transposition of the great arteriesEnrichmentGATA41.56
282Systemic-onset juvenile idiopathic arthritisEnrichmentIL61.56
283Leukemia, acute myeloidEnrichmentCEBPA, KIT1.50
284Hyperlipidemia, familial combined, 3EnrichmentLPL1.46
285Arrhythmogenic right ventricular dysplasia, familial, 1EnrichmentTGFB31.46
286Retinal detachmentEnrichmentCOL2A11.46
287Rheumatoid arthritis, systemic juvenileEnrichmentIL61.46
288Insulin-like growth factor iEnrichmentIGF11.46
289Acute myeloid leukemia with maturationEnrichmentKIT1.46
290HoloprosencephalyEnrichmentFGF81.46
291Arrhythmogenic right ventricular dysplasia 1EnrichmentTGFB31.46
292Nonsyndromic 46,xx testicular disorders/differences of sex developmentEnrichmentSOX91.46
293Cleft upper lipEnrichmentGJA11.46
294Inherited acute myeloid leukemiaEnrichmentCEBPA1.46
295Persistent truncus arteriosusEnrichmentNKX2-51.46
296Generalized juvenile polyposis/juvenile polyposis coliEnrichmentENG1.46
297Familial cerebral saccular aneurysmEnrichmentENG1.46
298Nephrotic syndromeEnrichmentFN1, RUNX21.44
299Spondyloepiphyseal dysplasia with congenital joint dislocationsEnrichmentACAN1.38
300Developmental dysplasia of the hip 1EnrichmentCOL2A11.38
301Melanoma, uvealEnrichmentBAP11.38
302Myopathy, centronuclear, 1EnrichmentMYOD11.38
303Telangiectasia, hereditary hemorrhagic, type 1EnrichmentENG1.38
304Conotruncal heart malformationsEnrichmentNKX2-51.38
305Pierre robin syndromeEnrichmentSOX91.38
306Holoprosencephaly 1EnrichmentFGF81.38
307Moyamoya disease 1EnrichmentACTA21.38
308Testicular germ cell tumorEnrichmentKIT1.38
309Anterior segment dysgenesis 5EnrichmentBMP41.38
310Inflammatory bowel disease 25, autosomal recessiveEnrichmentTGFB11.38
311Clear cell renal cell carcinomaEnrichmentBAP11.38
312Double outlet right ventricleEnrichmentNKX2-51.38
313Il10-related early-onset inflammatory bowel diseaseEnrichmentTGFB11.38
314Waardenburg syndromeEnrichmentPAX31.38
315Waardenburg syndrome, type 1EnrichmentPAX31.32
316Hypothyroidism, congenital, nongoitrous, 2EnrichmentNKX2-51.32
317Gastrointestinal stromal tumorEnrichmentKIT1.32
318Multiple enchondromatosis, maffucci typeEnrichmentCOL2A11.32
319Essential thrombocythemiaEnrichmentTHPO1.32
320Hereditary hemorrhagic telangiectasiaEnrichmentENG1.32
321Myofibrillar myopathyEnrichmentDES1.32
322Melanocytic nevus syndrome, congenitalEnrichmentSOX51.26
323Glioma susceptibility 1EnrichmentBAP11.26
324Erythrokeratodermia variabilis et progressiva 1EnrichmentGJA11.26
325Basal ganglia calcification, idiopathic, 1EnrichmentPDGFB1.26
326Ewing sarcomaEnrichmentBAP11.26
327Permanent neonatal diabetes mellitusEnrichmentINS1.26
328Isolated split hand-split foot malformationEnrichmentWNT10B1.26
329Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentFGF8, GATA41.23
330Orofacial cleft 1EnrichmentFGF101.21
331Inflammatory bowel disease 1EnrichmentIL61.21
332Adult hepatocellular carcinomaEnrichmentEGF1.21
333Ventricular septal defectEnrichmentTBX51.21
334Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentMEF2C, PPARGC1A1.21
335Inherited cancer-predisposing syndromeEnrichmentBAP1, CEBPA, KIT1.18
336Peters-plus syndromeEnrichmentBMP41.17
337Autosomal non-syndromic agammaglobulinemiaEnrichmentCD79A1.17
338Meningioma, familialEnrichmentPDGFB1.13
33946,xy complete gonadal dysgenesisEnrichmentSOX91.13
340Diabetes mellitusEnrichmentINS1.13
341Heritable pulmonary arterial hypertensionEnrichmentENG1.13
342Renal hypodysplasia/aplasia 3EnrichmentBMP41.09
343Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentTGFB31.09
344Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentTGFB31.09
345Lip and oral cavity carcinomaEnrichmentKIT1.09
346Aortic valve disease 1EnrichmentNKX2-51.06
347Neural tube defectsEnrichmentITGB11.06
348Pulmonary hypertension, primary, 1EnrichmentENG1.06
349Chromosome 1p36 deletion syndromeEnrichmentHSPG21.06
350Aortic aneurysm, familial thoracic 1EnrichmentGATA41.03
351Cleft lip/palateEnrichmentBMP41.03
352Renal cell carcinoma, nonpapillaryEnrichmentBAP11.00
353Corpus callosum, agenesis ofEnrichmentCDH21.00
354MyopiaEnrichmentCOL2A11.00
355Isolated corpus callosum agenesisEnrichmentCDH21.00
356Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCDH21.00
357Wolff-parkinson-white syndromeEnrichmentTNNT20.97
358Arrhythmogenic right ventricular cardiomyopathyEnrichmentDES0.97
359GliosarcomaEnrichmentPPARG0.97
360Melanoma, cutaneous malignant 1EnrichmentBAP10.95
361Sudden infant death syndromeEnrichmentTNNI30.95
362Cardiomyopathy, dilated, 1eEnrichmentDES0.95
363Giant cell glioblastomaEnrichmentPPARG0.95
364Neuromuscular diseaseEnrichmentDES0.92
365Normosmic congenital hypogonadotropic hypogonadismEnrichmentFGF80.92
366Colorectal cancerEnrichmentPPARG, SOX90.91
367Ehlers-danlos syndromeEnrichmentTGFB20.90
368Macs syndromeEnrichmentWNT7B0.88
369Maturity-onset diabetes of the youngEnrichmentINS0.88
370MicrophthalmiaEnrichmentWNT7B0.84
371Tooth agenesisEnrichmentWNT10B0.84
372Kallmann syndromeEnrichmentFGF80.83
373Auditory neuropathyEnrichmentCDH20.78
374StrabismusEnrichmentSOX50.76
375Severe covid-19EnrichmentHLA-A0.73
376Differentiated thyroid carcinomaEnrichmentPPARG0.73
377Long qt syndrome 1EnrichmentTBX50.72
378Stargardt disease 1EnrichmentCOL2A10.72
379Lung cancerEnrichmentACTA20.70
380Cystic fibrosisEnrichmentTGFB10.70
381Severe combined immunodeficiencyEnrichmentPTPRC0.68
382Fetal akinesia deformation sequence 1EnrichmentMYOD10.64
383Distal arthrogryposisEnrichmentMYOD10.59
384ThrombocytopeniaEnrichmentTHPO0.54
385Body mass index quantitative trait locus 11EnrichmentPPARG0.53
386Autosomal dominant non-syndromic intellectual disabilityEnrichmentCDH150.53
387Myeloma, multipleEnrichmentBAP10.49
388Primary ovarian insufficiencyEnrichmentBMP60.47
389Rare genetic deafnessEnrichmentPAX30.37
390Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentGJA10.33
391Ovarian cancerEnrichmentKIT0.29
392Autism spectrum disorderEnrichmentMEF2C0.27
393Complex neurodevelopmental disorderEnrichmentBAP10.23
394Hereditary retinal dystrophyEnrichmentCOL2A1, VCAN0.22
395Fundus dystrophyEnrichmentCOL2A1, VCAN0.22

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