Osteoblast differentiation and related diseases

No Pathway Network information available for Osteoblast differentiation and related diseases

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

Disorders associated with Osteoblast differentiation and related diseases SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1KeratoacanthomaEnrichmentNOTCH1, NOTCH2, PIK3CA7.02
2Colorectal cancerEnrichmentCTNNB1, FGFR2, FGFR3, PIK3CA, PPARG, SMAD4, SOX96.84
3Microform holoprosencephalyEnrichmentDLL1, FGFR1, GLI2, PTCH16.13
4Lobar holoprosencephalyEnrichmentDLL1, FGFR1, GLI2, PTCH16.13
5Exudative vitreoretinopathy 1EnrichmentCTNNB1, FZD4, LRP56.02
6Semilobar holoprosencephalyEnrichmentDLL1, FGFR1, GLI2, PTCH15.91
7CraniosynostosisEnrichmentFGFR2, FGFR3, GLI2, GLI35.71
8Adams-oliver syndromeEnrichmentDLL4, NOTCH1, RBPJ5.48
9Gallbladder cancerEnrichmentCTNNB1, PIK3CA, SMAD45.48
10Exudative vitreoretinopathyEnrichmentCTNNB1, FZD4, LRP55.28
11Keratosis, seborrheicEnrichmentFGFR3, PIK3CA4.67
12Pfeiffer syndromeEnrichmentFGFR1, FGFR24.67
13Jackson-weiss syndromeEnrichmentFGFR1, FGFR24.67
14Rosette-forming glioneuronal tumorEnrichmentFGFR1, PIK3CA4.67
15Septopreoptic holoprosencephalyEnrichmentDLL1, GLI2, PTCH14.38
16Midline interhemispheric variant of holoprosencephalyEnrichmentDLL1, GLI2, PTCH14.38
17GliosarcomaEnrichmentFGFR1, FGFR3, PPARG4.29
18Polycystic liver diseaseEnrichmentCTNNB1, LRP5, LRP64.21
19Giant cell glioblastomaEnrichmentFGFR1, FGFR3, PPARG4.21
20Autosomal dominant polycystic liver diseaseEnrichmentCTNNB1, LRP5, LRP64.21
21Alobar holoprosencephalyEnrichmentDLL1, GLI2, PTCH14.21
22Brachydactyly, type a1EnrichmentBMPR1B, IHH4.20
23Crouzon syndromeEnrichmentFGFR2, FGFR34.20
24Lacrimoauriculodentodigital syndrome 1EnrichmentFGFR2, FGFR34.20
25Juvenile polyposis syndromeEnrichmentBMPR1A, SMAD44.20
26Pulmonary arterial hypertension associated with congenital heart diseaseEnrichmentBMPR2, SMAD94.20
27HepatoblastomaEnrichmentCTNNB1, FGFR3, JAG13.92
28Brachydactyly, type a2EnrichmentBMP2, BMPR1B3.90
29Robinow syndrome, autosomal dominant 1EnrichmentFZD2, WNT5A3.90
30Saethre-chotzen syndromeEnrichmentFGFR2, FGFR33.90
31Retinopathy of prematurityEnrichmentFZD4, LRP53.90
32Cerebrovascular diseaseEnrichmentNOTCH3, PIK3CA3.90
33Autosomal dominant robinow syndromeEnrichmentFZD2, WNT5A3.90
34Tooth agenesisEnrichmentFGFR1, LRP6, WNT10B3.86
35Hemifacial hyperplasiaEnrichmentFGFR2, FGFR33.68
36Robinow syndrome, autosomal recessive 1EnrichmentFZD2, WNT5A3.68
37Generalized juvenile polyposis/juvenile polyposis coliEnrichmentBMPR1A, SMAD43.68
38Tetralogy of fallotEnrichmentHEY2, JAG1, NOTCH13.64
39Autosomal recessive robinow syndromeEnrichmentFZD2, WNT5A3.50
40Lung squamous cell carcinomaEnrichmentFGFR3, PIK3CA3.50
41Bladder cancerEnrichmentCTNNB1, FGFR3, PIK3CA3.49
42Hirschsprung disease 1EnrichmentGLI3, IHH, SMO3.49
43Connective tissue diseaseEnrichmentFGFR3, NOTCH1, SOX93.37
44Nevus, epidermalEnrichmentFGFR3, PIK3CA3.36
45Adult hepatocellular carcinomaEnrichmentCTNNB1, PIK3CA3.13
46Gastric cancerEnrichmentFGFR2, PIK3CA, SMAD42.99
47Familial thoracic aortic aneurysm and aortic dissectionEnrichmentHEY2, NOTCH1, SMAD42.96
48Heritable pulmonary arterial hypertensionEnrichmentBMPR2, SMAD92.94
49Ovarian cancerEnrichmentBMPR1A, CTNNB1, PIK3CA, PTCH12.91
50Renal hypodysplasia/aplasia 3EnrichmentBMP4, FGFR32.87
51MeningiomaEnrichmentPIK3CA, SMO2.87
52OsteoporosisEnrichmentLRP5, WNT12.73
53MedulloblastomaEnrichmentCTNNB1, PTCH12.73
54Polydactyly, postaxial, type a1EnrichmentGLI3, PTCH12.67
55Endometrial cancerEnrichmentFGFR2, PIK3CA2.38
56Hepatocellular carcinomaEnrichmentCTNNB1, PIK3CA2.34
57Pallister-hall syndromeEnrichmentGLI32.33
58HypochondroplasiaEnrichmentFGFR32.33
59MacrodactylyEnrichmentPIK3CA2.33
60Beare-stevenson cutis gyrata syndromeEnrichmentFGFR22.33
61Osteoglophonic dysplasiaEnrichmentFGFR12.33
62Greig cephalopolysyndactyly syndromeEnrichmentGLI32.33
63Endosteal hyperostosis, autosomal dominantEnrichmentLRP52.33
64Thanatophoric dysplasia, type iEnrichmentFGFR32.33
65Trigonocephaly 1EnrichmentFGFR12.33
66Muenke syndromeEnrichmentFGFR32.33
67Bone mineral density quantitative trait locus 1EnrichmentLRP52.33
68Exudative vitreoretinopathy 4EnrichmentLRP52.33
69Curry-jones syndromeEnrichmentSMO2.33
70Schilbach-rott syndromeEnrichmentPTCH12.33
71Polydactyly, preaxial ivEnrichmentGLI32.33
72Scaphocephaly, maxillary retrusion, and impaired intellectual developmentEnrichmentFGFR22.33
73Polyposis syndrome, hereditary mixed, 2EnrichmentBMPR1A2.33
74Acromesomelic dysplasia 3EnrichmentBMPR1B2.33
75Megalencephaly, autosomal dominantEnrichmentPIK3CA2.33
76Omodysplasia 2EnrichmentFZD22.33
77Apert syndromeEnrichmentFGFR22.33
78Hajdu-cheney syndromeEnrichmentNOTCH22.33
79Alagille syndrome 2EnrichmentNOTCH22.33
80Lateral meningocele syndromeEnrichmentNOTCH32.33
81Cowden syndrome 5EnrichmentPIK3CA2.33
82Split-hand/foot malformation 6EnrichmentWNT10B2.33
83Tooth agenesis, selective, 7EnrichmentLRP62.33
84Thanatophoric dysplasia, type iiEnrichmentFGFR32.33
85Tooth agenesis, selective, 8EnrichmentWNT10B2.33
86Brachydactyly, type a1, dEnrichmentBMPR1B2.33
87Culler-jones syndromeEnrichmentGLI22.33
88Camptodactyly, tall stature, and hearing loss syndromeEnrichmentFGFR32.33
89Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD2.33
90Bent bone dysplasia syndrome 1EnrichmentFGFR22.33
91Exudative vitreoretinopathy 8EnrichmentLRP62.33
92Cerebral cavernous malformations 4EnrichmentPIK3CA2.33
93Charcot-marie-tooth disease, axonal, type 2hhEnrichmentJAG12.33
9446,xy sex reversal 10EnrichmentSOX92.33
95Adams-oliver syndrome 6EnrichmentDLL42.33
9646,xx sex reversal 2EnrichmentSOX92.33
97Microphthalmia, syndromic 6EnrichmentBMP42.33
98Orofacial cleft 11EnrichmentBMP42.33
99Osteoporosis-pseudoglioma syndromeEnrichmentLRP52.33
100Coronary artery disease, autosomal dominant 2EnrichmentLRP62.33
101Bone mineral density quantitative trait locus 16EnrichmentWNT12.33
102Crouzon syndrome with acanthosis nigricansEnrichmentFGFR32.33
103Hemifacial myohyperplasiaEnrichmentPIK3CA2.33
104Acrocapitofemoral dysplasiaEnrichmentIHH2.33
105Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.33
106Polycystic liver disease 4 with or without kidney cystsEnrichmentLRP52.33
107Santos syndromeEnrichmentWNT7A2.33
108Holoprosencephaly 9EnrichmentGLI22.33
109Multiple synostoses syndrome 3EnrichmentFGF92.33
110Immunodeficiency 31aEnrichmentSTAT12.33
111Pulmonary hypertension, primary, 2EnrichmentSMAD92.33
112Congenital myopathy 17EnrichmentMYOD12.33
113Myofibromatosis, infantile, 2EnrichmentNOTCH32.33
114Immunodeficiency 31bEnrichmentSTAT12.33
115Achondroplasia, severe, with developmental delay and acanthosis nigricansEnrichmentFGFR32.33
116Hartsfield syndromeEnrichmentFGFR12.33
11720p12.3 microdeletion syndromeEnrichmentBMP22.33
118Muscular dystrophy, limb-girdle, autosomal recessive 27EnrichmentJAG22.33
119Deafness, congenital heart defects, and posterior embryotoxonEnrichmentJAG12.33
120Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1EnrichmentBMP22.33
121Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.33
122Adenoid ameloblastomaEnrichmentCTNNB12.33
123Lacrimoauriculodentodigital syndrome 2EnrichmentFGFR32.33
124Pparg-associated congenital generalized lipodystrophyEnrichmentPPARG2.33
125Heritable thoracic aortic diseaseEnrichmentSMAD42.33
126HypospadiasEnrichmentPIK3CA2.33
127Lrp5-related primary osteoporosisEnrichmentLRP52.33
128Transient cerebral ischemiaEnrichmentNOTCH32.33
129Primary pulmonary hypertensionEnrichmentBMPR22.33
130Rare venous malformationEnrichmentPIK3CA2.33
131Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1EnrichmentNOTCH32.33
132Pulmonary hypertensionEnrichmentBMPR22.33
133Turner syndromeEnrichmentPTCH12.33
134Diaphragmatic eventrationEnrichmentPIK3CA2.33
135Fgfr3-related chondrodysplasiaEnrichmentFGFR32.33
136Drug- or toxin-induced pulmonary arterial hypertensionEnrichmentBMPR22.33
137Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.33
138Camptodactyly-tall stature-scoliosis-hearing loss syndromeEnrichmentFGFR32.33
139Rare combined vascular malformationEnrichmentPIK3CA2.33
140Cavernous lymphangiomaEnrichmentPIK3CA2.33
141Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.33
142Monosomy 9q22.3EnrichmentPTCH12.33
143Osteosclerosis-developmental delay-craniosynostosis syndromeEnrichmentLRP52.33
144Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeEnrichmentGLI22.33
145Hartsfield-bixler-demyer syndromeEnrichmentFGFR12.33
146Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.33
147Eccrine angiomatous hamartomaEnrichmentPIK3CA2.33
148Non-syndromic unicoronal craniosynostosisEnrichmentFGFR22.33
149Macrodactyly of toeEnrichmentPIK3CA2.33
150Microcystic stromal tumorEnrichmentCTNNB12.33
151Brittle bone disorderEnrichmentLRP5, WNT12.30
152Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactylyEnrichmentRUNX22.03
153Myhre syndromeEnrichmentSMAD42.03
154Campomelic dysplasiaEnrichmentSOX92.03
155Otodental dysplasiaEnrichmentFGF32.03
156Van buchem diseaseEnrichmentLRP52.03
157Pallister-hall-like syndromeEnrichmentSMO2.03
158Pulmonary venoocclusive disease 1, autosomal dominantEnrichmentBMPR22.03
159Ulna and fibula, absence of, with severe limb deficiencyEnrichmentWNT7A2.03
160Bladder exstrophy and epispadias complexEnrichmentWNT32.03
161Osteopathia striata with cranial sclerosisEnrichmentCTNNB12.03
162Carotid intimal medial thickness 1EnrichmentPPARG2.03
163Cervical cancerEnrichmentFGFR32.03
164Tetraamelia syndrome 1EnrichmentWNT32.03
165Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD42.03
166Aural atresia, congenitalEnrichmentFGFR22.03
167Osteogenesis imperfecta, type xvEnrichmentWNT12.03
168Deafness, congenital, with inner ear agenesis, microtia, and microdontiaEnrichmentFGF32.03
169Encephalocraniocutaneous lipomatosisEnrichmentFGFR12.03
170Fibrodysplasia ossificans progressivaEnrichmentBMPR22.03
171Adams-oliver syndrome 5EnrichmentNOTCH12.03
172White-sutton syndromeEnrichmentGLI22.03
173Robinow syndrome, autosomal dominant 3EnrichmentFZD22.03
174Noonan syndrome 8EnrichmentPIK3CA2.03
175Spermatogenic failure 17EnrichmentPIK3C2G2.03
176Fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactylyEnrichmentWNT7A2.03
177Adams-oliver syndrome 3EnrichmentRBPJ2.03
178Immunodeficiency 31cEnrichmentSTAT12.03
179Antley-bixler syndrome without genital anomalies or disordered steroidogenesisEnrichmentFGFR22.03
180Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizuresEnrichmentDLL12.03
181Infantile myofibromatosisEnrichmentNOTCH32.03
182Pulmonary venoocclusive disease 1EnrichmentBMPR22.03
183Tibial hemimeliaEnrichmentGLI32.03
184Childhood hepatocellular carcinomaEnrichmentCTNNB12.03
185Split hand-foot malformationEnrichmentFGFR22.03
186SynpolydactylyEnrichmentGLI32.03
187Lipodystrophy, familial partial, type 1EnrichmentNOTCH32.03
188Depressive disorderEnrichmentNOTCH32.03
189Cervix carcinomaEnrichmentFGFR32.03
190Craniosynostosis 7EnrichmentBMP22.03
191Hereditary mixed polyposis syndromeEnrichmentBMPR1A2.03
192Interfrontal craniofaciosynostosisEnrichmentFGFR12.03
193Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB12.03
194Postaxial polydactyly type bEnrichmentGLI32.03
195Familial partial lipodystrophyEnrichmentPPARG2.03
196Autosomal dominant nonsyndromic deafnessEnrichmentFGFR22.03
197Pulmonary venoocclusive diseaseEnrichmentBMPR22.03
198TeratomaEnrichmentCTNNB12.03
199OsteosclerosisEnrichmentLRP52.03
200Bladder exstrophy-epispadias-cloacal exstrophy complexEnrichmentWNT32.03
201Juvenile polyposis of infancyEnrichmentBMPR1A2.03
202Oculootodental syndromeEnrichmentFGF32.03
203Idiopathic/heritable pulmonary arterial hypertensionEnrichmentBMPR22.03
204Campomelic dysplasia and related disordersEnrichmentSOX92.03
205Cleidocranial dysplasia 1EnrichmentRUNX21.86
206Desmoid disease, hereditaryEnrichmentCTNNB11.86
207AchondroplasiaEnrichmentFGFR31.86
208Brachydactyly, type cEnrichmentBMPR1B1.86
209Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR11.86
210Larsen syndromeEnrichmentFGFR31.86
211Alagille syndrome 1EnrichmentJAG11.86
212Acromesomelic dysplasia 2aEnrichmentBMPR1B1.86
213Acromesomelic dysplasia 2cEnrichmentBMPR1B1.86
214Acromesomelic dysplasia 2bEnrichmentBMPR1B1.86
215Acrocallosal syndromeEnrichmentGLI31.86
216Pompe disease, infantile-onsetEnrichmentPIK3CA1.86
217Aarskog-scott syndromeEnrichmentGLI31.86
21846,xx sex reversal 1EnrichmentSOX91.86
219Osteopetrosis, autosomal dominant 1EnrichmentLRP51.86
220Osteoporosis, juvenileEnrichmentWNT11.86
221Transposition of the great arteries, dextro-loopedEnrichmentBMP21.86
222Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA1.86
223Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.86
224Holoprosencephaly 7EnrichmentPTCH11.86
225Chromosome 8p11 myeloproliferative syndromeEnrichmentFGFR11.86
226Anus, imperforateEnrichmentCTNNB11.86
227Exudative vitreoretinopathy 7EnrichmentCTNNB11.86
228Umbilical herniaEnrichmentGLI31.86
229Desmoid tumorEnrichmentCTNNB11.86
230HamartomaEnrichmentFGFR31.86
231Testicular germ cell cancerEnrichmentFGFR31.86
232Leukodystrophy and acquired microcephaly with or without dystoniaEnrichmentDLL31.86
233Cleidocranial dysplasiaEnrichmentRUNX21.86
234Migraine without auraEnrichmentNOTCH31.86
235SpermatocytomaEnrichmentFGFR31.86
236Tetraamelia syndromeEnrichmentWNT31.86
237Testicular cancerEnrichmentFGFR31.86
238Type 2 diabetes mellitusEnrichmentPPARG, RBPJ1.79
239Polydactyly, preaxial iiEnrichmentPTCH11.73
240Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3CA1.73
241Lipodystrophy, familial partial, type 3EnrichmentPPARG1.73
242PilomatrixomaEnrichmentCTNNB11.73
243Leptin deficiency or dysfunctionEnrichmentPPARG1.73
244Alazami syndromeEnrichmentCTNNB11.73
245Congenital generalized lipodystrophyEnrichmentPPARG1.73
246Multiple synostoses syndromeEnrichmentFGF91.73
247Orofacial cleftEnrichmentLRP61.73
248CraniopharyngiomaEnrichmentCTNNB11.73
249Familial cerebral cavernous malformationsEnrichmentPIK3CA1.73
250Non-syndromic bicoronal craniosynostosisEnrichmentFGFR31.73
251GliomaEnrichmentFGFR21.73
252VitreoretinopathyEnrichmentLRP51.73
253Orofacial clefting syndromeEnrichmentLRP61.73
254Middle aortic syndromeEnrichmentJAG11.73
255Capillary malformations, congenitalEnrichmentPIK3CA1.64
256Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1EnrichmentNOTCH31.64
257Norrie diseaseEnrichmentFZD41.64
258Ventricular septal defect 1EnrichmentBMP21.64
259Robinow syndrome, autosomal dominant 2EnrichmentFZD21.64
260HoloprosencephalyEnrichmentFGFR11.64
261Persistent hyperplastic primary vitreousEnrichmentFZD41.64
262Nonsyndromic 46,xx testicular disorders/differences of sex developmentEnrichmentSOX91.64
263Aplasia cutis congenitaEnrichmentDLL41.64
264Vascular dementiaEnrichmentNOTCH31.64
265HemimegalencephalyEnrichmentPIK3CA1.64
266Primary hypereosinophilic syndromeEnrichmentFGFR11.64
267Inherited cancer-predisposing syndromeEnrichmentBMPR1A, PTCH1, SMAD41.63
268HypertelorismEnrichmentFGFR2, PIK3CA1.62
269Atrial septal defect 1EnrichmentBMP21.56
270Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.56
271Myopathy, centronuclear, 1EnrichmentMYOD11.56
272Cowden syndrome 1EnrichmentPIK3CA1.56
273Basal cell nevus syndrome 1EnrichmentPTCH11.56
274Weyers acrofacial dysostosisEnrichmentCTNNB11.56
275Split-hand/foot malformation 1EnrichmentFGFR21.56
276Hemihyperplasia, isolatedEnrichmentPIK3CA1.56
277Pierre robin syndromeEnrichmentSOX91.56
278Holoprosencephaly 1EnrichmentFGFR11.56
279Testicular germ cell tumorEnrichmentFGFR31.56
280Anterior segment dysgenesis 5EnrichmentBMP41.56
281Renal dysplasia, cysticEnrichmentWNT9B1.56
282Basal cell carcinoma 1EnrichmentPTCH11.56
283Renal hypoplasiaEnrichmentWNT9B1.56
284Adrenocortical carcinomaEnrichmentCTNNB11.56
285Chronic mucocutaneous candidiasisEnrichmentSTAT11.56
286Breast adenocarcinomaEnrichmentPIK3CA1.56
287Spondylocostal dysostosis, autosomal recessiveEnrichmentDLL31.56
28846,xy disorder of sex developmentEnrichmentFGFR31.56
289Coats diseaseEnrichmentFZD41.49
290Capillary malformation-arteriovenous malformation 1EnrichmentPIK3CA1.49
291Hereditary hemorrhagic telangiectasiaEnrichmentSMAD41.49
292Pilomyxoid astrocytomaEnrichmentFGFR11.49
293Congenital hydrocephalusEnrichmentPTCH11.49
294Overgrowth syndromeEnrichmentPTCH11.49
295Hemochromatosis, type 1EnrichmentBMP21.44
296Renal hypodysplasia/aplasia 1EnrichmentWNT9B1.44
297Spondylocostal dysostosis 1, autosomal recessiveEnrichmentDLL31.44
298Hypoplastic left heart syndromeEnrichmentNOTCH11.44
299Isolated split hand-split foot malformationEnrichmentWNT10B1.44
300Combined pituitary hormone deficiencyEnrichmentGLI21.44
301Tooth agenesis, selective, 1EnrichmentBMPR21.39
302Arteriovenous malformationEnrichmentPIK3CA1.39
303Hypogonadotropic hypogonadismEnrichmentFGFR11.39
304Cowden syndromeEnrichmentPIK3CA1.39
305Renal agenesis, bilateralEnrichmentWNT9B1.39
306Meier-gorlin syndrome 1EnrichmentFGFR21.34
307Peters-plus syndromeEnrichmentBMP41.34
308Stroke, ischemicEnrichmentNOTCH31.34
309Myopathy, x-linked, with excessive autophagyEnrichmentPIK3CA1.34
310Stickler syndromeEnrichmentBMP41.34
311Primary bone dysplasiaEnrichmentFGFR31.34
312Migraine with or without aura 1EnrichmentNOTCH31.30
31346,xy complete gonadal dysgenesisEnrichmentSOX91.30
314OsteochondrodysplasiaEnrichmentFGFR31.30
315Lung non-small cell carcinomaEnrichmentPIK3CA1.30
316Familial colorectal cancer type xEnrichmentBMPR1A1.30
317Septooptic dysplasiaEnrichmentFGFR11.26
318Lip and oral cavity carcinomaEnrichmentPIK3CA1.26
319Aortic valve disease 1EnrichmentNOTCH11.23
320Diaphragmatic hernia, congenitalEnrichmentGLI31.23
321Osteogenesis imperfecta, type ivEnrichmentWNT11.23
322Pulmonary hypertension, primary, 1EnrichmentBMPR21.23
323Chromosome 1p36 deletion syndromeEnrichmentPRKCZ1.23
324Chronic kidney diseaseEnrichmentWNT9B1.23
325Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentFGFR11.20
326Aortic aneurysm, familial thoracic 1EnrichmentNOTCH11.20
327Cleft lip/palateEnrichmentBMP41.20
32846,xy partial gonadal dysgenesisEnrichmentSOX91.20
329Osteogenesis imperfecta, type iiiEnrichmentWNT11.17
330HydrocephalusEnrichmentFGFR21.17
331Lynch syndromeEnrichmentPIK3CA1.17
332RhabdomyosarcomaEnrichmentPTCH11.14
333Heart, malformation ofEnrichmentJAG11.09
334Normosmic congenital hypogonadotropic hypogonadismEnrichmentFGFR11.09
335Congenital nervous system abnormalityEnrichmentCTNNB1, FGFR31.06
336Nervous system diseaseEnrichmentCTNNB1, FGFR31.06
337Macs syndromeEnrichmentPTCH11.05
338MicrophthalmiaEnrichmentPTCH11.01
339Kallmann syndromeEnrichmentFGFR10.99
340Pancreatic cancerEnrichmentSMAD40.96
341Auditory neuropathyEnrichmentNOTCH30.94
342Prostate cancerEnrichmentPIK3CA0.90
343Differentiated thyroid carcinomaEnrichmentPPARG0.90
344Lung cancerEnrichmentPIK3CA0.86
345Hereditary retinal dystrophyEnrichmentFZD4, JAG1, LRP50.82
346Fundus dystrophyEnrichmentFZD4, JAG1, LRP50.82
347Fetal akinesia deformation sequence 1EnrichmentMYOD10.80
348Distal arthrogryposisEnrichmentMYOD10.75
349Nephrotic syndromeEnrichmentRUNX20.74
350Hereditary breast carcinomaEnrichmentPIK3CA0.73
351ThrombocytopeniaEnrichmentSMAD40.70
352Body mass index quantitative trait locus 11EnrichmentPPARG0.68
353Autosomal dominant non-syndromic intellectual disabilityEnrichmentDLL10.68
354Hereditary breast ovarian cancer syndromeEnrichmentPTCH10.65
355Myeloma, multipleEnrichmentFGFR30.64
356Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentGLI20.64
357Primary ovarian insufficiencyEnrichmentNOTCH20.62
358Breast cancerEnrichmentPIK3CA0.53
359MicrocephalyEnrichmentCTNNB10.36

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