Els panells qGenEx® consisteixen en anàlisis d’exoma dirigides, que permeten restringir l’estudi a un grup de gens concret segons l’especialitat o sospita clínica concreta, al mateix temps que generen dades de la totalitat de l’exoma, per si en primera instància no s’identifica el gen responsable, ja tinguem les dades apunt per a noves anàlisis presents o futures.
El servei qGenEx® MEN, és un estudi ampli que analitza fins a 3.026 gens associats a qualsevol tipus de patologia d’origen genètic, inclosa a la base de dades OMIM fins a març de 2017. El qGenEx® Mendelioma es l’equivalent al què s’anomena exoma clínic.
Fes servir el buscador per trobar el gen o grup de gens relacionats amb la patologia que t’interessa i que formen part del panell:
Gene | Median coverage | % covered > 10x | % covered > 20x | Associated Phenotype | OMIM disease ID |
---|---|---|---|---|---|
ADAMTSL4 | 96.9 | 0.99 | 0.97 | Ectopia lentis et pupillae, | 225200 |
ADAMTSL4 | 96.9 | 0.99 | 0.97 | Ectopia lentis, isolated, autosomal recessive, | 225100 |
ALX1 | 171.3 | 0.99 | 0.96 | ?Frontonasal dysplasia 3 | 613456 |
ALX3 | 125.6 | 0.78 | 0.71 | Frontonasal dysplasia 1 | 136760 |
ALX4 | 132.6 | 0.96 | 0.89 | Frontonasal dysplasia 2 | 613451 |
ALX4 | 132.6 | 0.96 | 0.89 | Parietal foramina 2 | 609597 |
ALX4 | 132.6 | 0.96 | 0.89 | {Craniosynostosis 5 susceptibility to}, | 615529 |
AMELX | 95.2 | 0.99 | 0.96 | Amelogenesis imperfecta, type 1E, | 301200 |
ANKRD11 | 107.9 | 0.97 | 0.93 | KBG syndrome, | 148050 |
AXIN2 | 133.3 | 1 | 0.99 | Colorectal cancer, somatic, | 114500 |
AXIN2 | 133.3 | 1 | 0.99 | Oligodontia-colorectal cancer syndrome, | 608615 |
BCOR | 131.4 | 0.99 | 0.97 | Microphthalmia, syndromic 2 | 300166 |
BMP4 | 154.5 | 1 | 0.99 | Microphthalmia, syndromic 6 | 607932 |
BMP4 | 154.5 | 1 | 0.99 | Orofacial cleft 11 | 600625 |
C4orf26 | 226.3 | 1 | 1 | Amelogenesis imperfecta, type IIA4, | 614832 |
CDC45 | 184.7 | 0.99 | 0.97 | Meier-Gorlin syndrome 7 | 617063 |
CDON | 156.1 | 0.99 | 0.99 | Holoprosencephaly 11 | 614226 |
CDSN | 25.5 | 0.63 | 0.46 | Hypotrichosis 2 | 146520 |
CDSN | 25.5 | 0.63 | 0.46 | Peeling skin syndrome 1 | 270300 |
CHD7 | 161 | 0.99 | 0.98 | CHARGE syndrome, | 214800 |
CHD7 | 161 | 0.99 | 0.98 | Hypogonadotropic hypogonadism 5 with or without anosmia, | 612370 |
COL11A1 | 98.5 | 0.94 | 0.88 | Fibrochondrogenesis 1 | 228520 |
COL11A1 | 98.5 | 0.94 | 0.88 | Marshall syndrome, | 154780 |
COL11A1 | 98.5 | 0.94 | 0.88 | Stickler syndrome, type II, | 604841 |
COL11A1 | 98.5 | 0.94 | 0.88 | {Lumbar disc herniation, susceptibility to}, | 603932 |
COL11A2 | 14.1 | 0.57 | 0.23 | Deafness, autosomal dominant 13 | 601868 |
COL11A2 | 14.1 | 0.57 | 0.23 | Deafness, autosomal recessive 53 | 609706 |
COL11A2 | 14.1 | 0.57 | 0.23 | Fibrochondrogenesis 2 | 614524 |
COL11A2 | 14.1 | 0.57 | 0.23 | Otospondylomegaepiphyseal dysplasia, | 215150 |
COL11A2 | 14.1 | 0.57 | 0.23 | Stickler syndrome, type III, | 184840 |
COL11A2 | 14.1 | 0.57 | 0.23 | Weissenbacher-Zweymuller syndrome, | 277610 |
COL2A1 | 115.2 | 0.99 | 0.98 | Achondrogenesis, type II or hypochondrogenesis, | 200610 |
COL2A1 | 115.2 | 0.99 | 0.98 | Avascular necrosis of the femoral head, | 608805 |
COL2A1 | 115.2 | 0.99 | 0.98 | Czech dysplasia, | 609162 |
COL2A1 | 115.2 | 0.99 | 0.98 | Epiphyseal dysplasia, multiple, with myopia and deafness, | 132450 |
COL2A1 | 115.2 | 0.99 | 0.98 | Kniest dysplasia, | 156550 |
COL2A1 | 115.2 | 0.99 | 0.98 | Legg-Calve-Perthes disease, | 150600 |
COL2A1 | 115.2 | 0.99 | 0.98 | Osteoarthritis with mild chondrodysplasia, | 604864 |
COL2A1 | 115.2 | 0.99 | 0.98 | Otospondylomegaepiphyseal dysplasia, | 215150 |
COL2A1 | 115.2 | 0.99 | 0.98 | Platyspondylic skeletal dysplasia, Torrance type, | 151210 |
COL2A1 | 115.2 | 0.99 | 0.98 | SED congenita, | 183900 |
COL2A1 | 115.2 | 0.99 | 0.98 | SMED Strudwick type, | 184250 |
COL2A1 | 115.2 | 0.99 | 0.98 | Spondyloepiphyseal dysplasia, Stanescu type, | 616583 |
COL2A1 | 115.2 | 0.99 | 0.98 | Spondyloperipheral dysplasia, | 271700 |
COL2A1 | 115.2 | 0.99 | 0.98 | Stickler sydrome, type I, nonsyndromic ocular, | 609508 |
COL2A1 | 115.2 | 0.99 | 0.98 | Stickler syndrome, type I, | 108300 |
COL2A1 | 115.2 | 0.99 | 0.98 | Vitreoretinopathy with phalangeal epiphyseal dysplasia | 108300 |
COL9A1 | 128.2 | 0.99 | 0.95 | Stickler syndrome, type IV, | 614134 |
COL9A1 | 128.2 | 0.99 | 0.95 | /?Epiphyseal dysplasia, multiple, 6 | 614135 |
COL9A2 | 69.7 | 0.98 | 0.91 | Epiphyseal dysplasia, multiple, 2 | 600204 |
COL9A2 | 69.7 | 0.98 | 0.91 | ?Stickler syndrome, type V, | 614284 |
COL9A2 | 69.7 | 0.98 | 0.91 | {Intervertebral disc disease, susceptibility to}, | 603932 |
COL9A3 | 73.8 | 0.96 | 0.88 | Epiphyseal dysplasia, multiple, 3 with or without myopathy, | 600969 |
COL9A3 | 73.8 | 0.96 | 0.88 | {Intervertebral disc disease, susceptibility to}, | 603932 |
CTSK | 117.2 | 1 | 0.99 | Pycnodysostosis, | 265800 |
DHODH | 111.8 | 1 | 0.99 | Miller syndrome, | 263750 |
DISP1 | 222.4 | 0.99 | 0.99 | No OMIM phenotype | 263750 |
DISP1 | 222.4 | 0.99 | 0.99 | Craniofacial and neuro-developmental abnormalities (Roessler -2009 Hum Genet 125,393) | 263750 |
DISP1 | 222.4 | 0.99 | 0.99 | Diaphragmatic hernia, congenital (Kantarci -2010 Am J Med Genet A 152A,2493) | 263750 |
DISP1 | 222.4 | 0.99 | 0.99 | Tetralogy of Fallot (Silversides -2012 PLoS Genet 8 e | 1002843) |
DLX3 | 137.4 | 1 | 0.99 | Amelogenesis imperfecta, type IV, | 104510 |
DLX3 | 137.4 | 1 | 0.99 | Trichodontoosseous syndrome, | 190320 |
DLX4 | 146.1 | 0.99 | 0.99 | ?Orofacial cleft 15 | 616788 |
DSPP | 191 | 1 | 0.99 | Deafness, autosomal dominant 39 with dentinogenesis, | 605594 |
DSPP | 191 | 1 | 0.99 | Dentin dysplasia, type II, | 125420 |
DSPP | 191 | 1 | 0.99 | Dentinogenesis imperfecta, Shields type II, | 125490 |
DSPP | 191 | 1 | 0.99 | Dentinogenesis imperfecta, Shields type III, | 125500 |
EDA | 101 | 0.9 | 0.79 | Ectodermal dysplasia 1 hypohidrotic, X-linked, | 305100 |
EDA | 101 | 0.9 | 0.79 | Tooth agenesis, selective, X-linked 1 | 313500 |
EDAR | 145.9 | 0.99 | 0.98 | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, | 129490 |
EDAR | 145.9 | 0.99 | 0.98 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, | 224900 |
EDAR | 145.9 | 0.99 | 0.98 | [Hair morphology 1 hair thickness], | 612630 |
EDARADD | 98.6 | 0.97 | 0.92 | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, | 614940 |
EDARADD | 98.6 | 0.97 | 0.92 | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, | 614941 |
EDN1 | 158.5 | 1 | 1 | Auriculocondylar syndrome 3 | 615706 |
EDN1 | 158.5 | 1 | 1 | Question mark ears, isolated, | 612798 |
EDN1 | 158.5 | 1 | 1 | {High density lipoprotein cholesterol level QTL 7} | 612798 |
EFNA4 | 118.4 | 1 | 1 | No OMIM phenotype | 612798 |
EFNA4 | 118.4 | 1 | 1 | Craniosynostosis 1 (Merrill et al, -2006 Hum Molec Genet 15) | 612798 |
EFNB1 | 142.4 | 1 | 0.99 | Craniofrontonasal dysplasia, | 304110 |
EFTUD2 | 125.4 | 0.99 | 0.99 | Mandibulofacial dysostosis, Guion-Almeida type, | 610536 |
EIF4A3 | 122.1 | 1 | 0.99 | Robin sequence with cleft mandible and limb abnormalities, | 268305 |
ENAM | 152.1 | 1 | 0.99 | Amelogenesis imperfecta, type IB, | 104500 |
ENAM | 152.1 | 1 | 0.99 | Amelogenesis imperfecta, type IC, | 204650 |
ERF | 125.9 | 0.99 | 0.97 | Craniosynostosis 4 | 600775 |
EYA1 | 160.1 | 0.99 | 0.98 | Anterior segment anomalies with or without cataract, | 113650 |
EYA1 | 160.1 | 0.99 | 0.98 | Branchiootic syndrome 1 | 602588 |
EYA1 | 160.1 | 0.99 | 0.98 | Branchiootorenal syndrome 1 with or without cataracts, | 113650 |
EYA1 | 160.1 | 0.99 | 0.98 | ?Otofaciocervical syndrome, | 166780 |
EZH2 | 153.3 | 0.99 | 0.98 | Weaver syndrome, | 277590 |
FAM83H | 83.2 | 0.95 | 0.89 | Amelogenesis imperfecta, type III, | 130900 |
FGD1 | 98.1 | 0.95 | 0.89 | Aarskog-Scott syndrome, | 305400 |
FGD1 | 98.1 | 0.95 | 0.89 | Mental retardation, X-linked syndromic 16 | 305400 |
FGF10 | 150.1 | 1 | 1 | Aplasia of lacrimal and salivary glands, | 180920 |
FGF10 | 150.1 | 1 | 1 | LADD syndrome, | 149730 |
FGF3 | 80.8 | 0.95 | 0.83 | Deafness, congenital with inner ear agenesis, microtia, and microdontia, | 610706 |
FGF8 | 127.4 | 0.85 | 0.79 | Hypogonadotropic hypogonadism 6 with or without anosmia, | 612702 |
FGFR1 | 161.5 | 0.99 | 0.97 | Encephalocraniocutaneous lipomatosis, | 613001 |
FGFR1 | 161.5 | 0.99 | 0.97 | Hartsfield syndrome, | 615465 |
FGFR1 | 161.5 | 0.99 | 0.97 | Hypogonadotropic hypogonadism 2 with or without anosmia, | 147950 |
FGFR1 | 161.5 | 0.99 | 0.97 | Jackson-Weiss syndrome, | 123150 |
FGFR1 | 161.5 | 0.99 | 0.97 | Osteoglophonic dysplasia, | 166250 |
FGFR1 | 161.5 | 0.99 | 0.97 | Pfeiffer syndrome, | 101600 |
FGFR1 | 161.5 | 0.99 | 0.97 | Trigonocephaly 1 | 190440 |
FGFR2 | 156.4 | 0.96 | 0.95 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, | 207410 |
FGFR2 | 156.4 | 0.96 | 0.95 | Apert syndrome, | 101200 |
FGFR2 | 156.4 | 0.96 | 0.95 | Beare-Stevenson cutis gyrata syndrome, | 123790 |
FGFR2 | 156.4 | 0.96 | 0.95 | Bent bone dysplasia syndrome, | 614592 |
FGFR2 | 156.4 | 0.96 | 0.95 | Craniofacial-skeletal-dermatologic dysplasia, | 101600 |
FGFR2 | 156.4 | 0.96 | 0.95 | Craniosynostosis, nonspecific | 101600 |
FGFR2 | 156.4 | 0.96 | 0.95 | Crouzon syndrome, | 123500 |
FGFR2 | 156.4 | 0.96 | 0.95 | Gastric cancer, somatic, | 613659 |
FGFR2 | 156.4 | 0.96 | 0.95 | Jackson-Weiss syndrome, | 123150 |
FGFR2 | 156.4 | 0.96 | 0.95 | LADD syndrome, | 149730 |
FGFR2 | 156.4 | 0.96 | 0.95 | Pfeiffer syndrome, | 101600 |
FGFR2 | 156.4 | 0.96 | 0.95 | Saethre-Chotzen syndrome, | 101400 |
FGFR2 | 156.4 | 0.96 | 0.95 | Scaphocephaly and Axenfeld-Rieger anomaly | 101400 |
FGFR2 | 156.4 | 0.96 | 0.95 | Scaphocephaly, maxillary retrusion, and mental retardation, | 609579 |
FGFR3 | 120.2 | 0.99 | 0.99 | Achondroplasia, | 100800 |
FGFR3 | 120.2 | 0.99 | 0.99 | Bladder cancer, somatic, | 109800 |
FGFR3 | 120.2 | 0.99 | 0.99 | CATSHL syndrome, | 610474 |
FGFR3 | 120.2 | 0.99 | 0.99 | Cervical cancer, somatic, | 603956 |
FGFR3 | 120.2 | 0.99 | 0.99 | Colorectal cancer, somatic, | 114500 |
FGFR3 | 120.2 | 0.99 | 0.99 | Crouzon syndrome with acanthosis nigricans, | 612247 |
FGFR3 | 120.2 | 0.99 | 0.99 | Hypochondroplasia, | 146000 |
FGFR3 | 120.2 | 0.99 | 0.99 | LADD syndrome, | 149730 |
FGFR3 | 120.2 | 0.99 | 0.99 | Muenke syndrome, | 602849 |
FGFR3 | 120.2 | 0.99 | 0.99 | Nevus, epidermal, somatic, | 162900 |
FGFR3 | 120.2 | 0.99 | 0.99 | SADDAN, | 616482 |
FGFR3 | 120.2 | 0.99 | 0.99 | Spermatocytic seminoma, somatic, | 273300 |
FGFR3 | 120.2 | 0.99 | 0.99 | Thanatophoric dysplasia, type I, | 187600 |
FGFR3 | 120.2 | 0.99 | 0.99 | Thanatophoric dysplasia, type II, | 187601 |
FOXC1 | 40.5 | 0.93 | 0.77 | Axenfeld-Rieger syndrome, type 3 | 602482 |
FOXC1 | 40.5 | 0.93 | 0.77 | Iridogoniodysgenesis, type 1 | 601631 |
FOXC1 | 40.5 | 0.93 | 0.77 | Iris hypoplasia and glaucoma, | 601631 |
FOXC1 | 40.5 | 0.93 | 0.77 | Rieger or Axenfeld anomalies, | 602482 |
FOXE1 | 31.4 | 0.76 | 0.6 | Bamforth-Lazarus syndrome, | 241850 |
FOXE1 | 31.4 | 0.76 | 0.6 | {Thyroid cancer, nonmedullary, 4}, | 616534 |
GDF3 | 139.5 | 1 | 1 | Klippel-Feil syndrome 3 autosomal dominant, | 613702 |
GDF3 | 139.5 | 1 | 1 | Microphthalmia with coloboma 6 | 613703 |
GDF3 | 139.5 | 1 | 1 | Microphthalmia, isolated 7 | 613704 |
GDF6 | 85.6 | 0.97 | 0.89 | Klippel-Feil syndrome 1 autosomal dominant, | 118100 |
GDF6 | 85.6 | 0.97 | 0.89 | Leber congenital amaurosis 17 | 615360 |
GDF6 | 85.6 | 0.97 | 0.89 | Microphthalmia with coloboma 6 digenic, | 613703 |
GDF6 | 85.6 | 0.97 | 0.89 | Microphthalmia, isolated 4 | 613094 |
GJA1 | 218.1 | 1 | 1 | Atrioventricular septal defect 3 | 600309 |
GJA1 | 218.1 | 1 | 1 | Craniometaphyseal dysplasia, autosomal recessive, | 218400 |
GJA1 | 218.1 | 1 | 1 | Erythrokeratodermia variabilis et progressiva, | 133200 |
GJA1 | 218.1 | 1 | 1 | Hypoplastic left heart syndrome 1 | 241550 |
GJA1 | 218.1 | 1 | 1 | Oculodentodigital dysplasia, | 164200 |
GJA1 | 218.1 | 1 | 1 | Oculodentodigital dysplasia, autosomal recessive, | 257850 |
GJA1 | 218.1 | 1 | 1 | Palmoplantar keratoderma with congenital alopecia, | 104100 |
GJA1 | 218.1 | 1 | 1 | Syndactyly, type III, | 186100 |
GJB6 | 226.9 | 1 | 1 | Deafness, autosomal dominant 3B, | 612643 |
GJB6 | 226.9 | 1 | 1 | Deafness, autosomal recessive 1B, | 612645 |
GJB6 | 226.9 | 1 | 1 | Deafness, digenic GJB2/GJB6, | 220290 |
GJB6 | 226.9 | 1 | 1 | Ectodermal dysplasia 2 Clouston type, | 129500 |
GLI2 | 139.5 | 0.98 | 0.96 | Culler-Jones syndrome, | 615849 |
GLI2 | 139.5 | 0.98 | 0.96 | Holoprosencephaly-9, | 610829 |
GLI3 | 170.9 | 1 | 0.99 | Greig cephalopolysyndactyly syndrome, | 175700 |
GLI3 | 170.9 | 1 | 0.99 | Pallister-Hall syndrome, | 146510 |
GLI3 | 170.9 | 1 | 0.99 | Polydactyly, postaxial, types A1 and B, | 174200 |
GLI3 | 170.9 | 1 | 0.99 | Polydactyly, preaxial, type IV, | 174700 |
GLI3 | 170.9 | 1 | 0.99 | {Hypothalamic hamartomas, somatic}, | 241800 |
GNAI3 | 126.8 | 0.99 | 0.94 | Auriculocondylar syndrome 1 | 602483 |
GRHL3 | 160 | 1 | 1 | Van der Woude syndrome 2 | 606713 |
HOXA2 | 90.9 | 0.99 | 0.95 | ?Microtia with or without hearing impairment (AD), | 612290 |
HOXA2 | 90.9 | 0.99 | 0.95 | ?Microtia, hearing impairment, and cleft palate (AR), | 612290 |
IFT122 | 164.4 | 1 | 0.99 | Cranioectodermal dysplasia 1 | 218330 |
IFT43 | 130.6 | 1 | 1 | Cranioectodermal dysplasia 3 | 614099 |
IKBKG | 56.2 | 0.84 | 0.7 | Ectodermal dysplasia, hypohidrotic, with immune deficiency, | 300291 |
IKBKG | 56.2 | 0.84 | 0.7 | Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, | 300301 |
IKBKG | 56.2 | 0.84 | 0.7 | Immunodeficiency 33 | 300636 |
IKBKG | 56.2 | 0.84 | 0.7 | Immunodeficiency, isolated, | 300584 |
IKBKG | 56.2 | 0.84 | 0.7 | Incontinentia pigmenti, | 308300 |
IKBKG | 56.2 | 0.84 | 0.7 | Invasive pneumococcal disease, recurrent isolated, 2 | 300640 |
IL11RA | 152.1 | 1 | 0.99 | Craniosynostosis and dental anomalies, | 614188 |
IRF6 | 136 | 0.99 | 0.97 | Popliteal pterygium syndrome 1 | 119500 |
IRF6 | 136 | 0.99 | 0.97 | van der Woude syndrome, | 119300 |
IRF6 | 136 | 0.99 | 0.97 | {Orofacial cleft 6}, | 608864 |
KAT6B | 202.7 | 0.99 | 0.98 | Genitopatellar syndrome, | 606170 |
KAT6B | 202.7 | 0.99 | 0.98 | SBBYSS syndrome, | 603736 |
KDM1A | 154.5 | 0.98 | 0.96 | Cleft palate, psychomotor retardation, and distinctive facial features, | 616728 |
KDM6A | 127.5 | 0.93 | 0.86 | Kabuki syndrome 2 | 300867 |
KLK4 | 210.9 | 0.99 | 0.98 | Amelogenesis imperfecta, type IIA1, | 204700 |
KMT2D | 162.1 | 0.99 | 0.99 | Kabuki syndrome 1 | 147920 |
KREMEN1 | 164.9 | 0.96 | 0.93 | No OMIM phenotype | 147920 |
LRP2 | 199.9 | 1 | 0.99 | Donnai-Barrow syndrome, | 222448 |
LRP6 | 186.6 | 1 | 0.99 | Tooth agenesis, selective, 7 | 616724 |
LRP6 | 186.6 | 1 | 0.99 | {Coronary artery disease, autosomal dominant, 2}, | 610947 |
LTBP3 | 126.4 | 0.98 | 0.96 | Dental anomalies and short stature, | 601216 |
MASP1 | 161.2 | 1 | 0.99 | 3MC syndrome 1 | 257920 |
MED12 | 116.5 | 0.98 | 0.95 | Lujan-Fryns syndrome, | 309520 |
MED12 | 116.5 | 0.98 | 0.95 | Ohdo syndrome, X-linked, | 300895 |
MED12 | 116.5 | 0.98 | 0.95 | Opitz-Kaveggia syndrome, | 305450 |
MEGF8 | 134 | 0.99 | 0.98 | Carpenter syndrome 2 | 614976 |
MEOX1 | 105.4 | 0.98 | 0.94 | Klippel-Feil syndrome 2 | 214300 |
MID1 | 196.6 | 0.99 | 0.98 | Opitz GBBB syndrome, type I, | 300000 |
MITF | 163 | 0.99 | 0.99 | Tietz albinism-deafness syndrome, | 103500 |
MITF | 163 | 0.99 | 0.99 | Waardenburg syndrome, type 2A, | 193510 |
MITF | 163 | 0.99 | 0.99 | Waardenburg syndrome/ocular albinism, digenic, | 103470 |
MITF | 163 | 0.99 | 0.99 | {Melanoma, cutaneous malignant, susceptibility to, 8}, | 614456 |
MMP20 | 117.5 | 0.99 | 0.99 | Amelogenesis imperfecta, type IIA2, | 612529 |
MSX1 | 88.1 | 0.97 | 0.91 | Ectodermal dysplasia 3 Witkop type, | 189500 |
MSX1 | 88.1 | 0.97 | 0.91 | Orofacial cleft 5 | 608874 |
MSX1 | 88.1 | 0.97 | 0.91 | Tooth agenesis, selective, 1 with or without orofacial cleft, | 106600 |
MSX2 | 105.4 | 0.99 | 0.94 | Craniosynostosis, type 2 | 604757 |
MSX2 | 105.4 | 0.99 | 0.94 | Parietal foramina 1 | 168500 |
MSX2 | 105.4 | 0.99 | 0.94 | Parietal foramina with cleidocranial dysplasia, | 168550 |
NAA10 | 111 | 0.99 | 0.96 | Ogden syndrome, | 300855 |
NAA10 | 111 | 0.99 | 0.96 | ?Microphthalmia, syndromic 1 | 309800 |
NFKBIA | 117.7 | 0.98 | 0.94 | Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, | 612132 |
NIPBL | 129.3 | 0.96 | 0.94 | Cornelia de Lange syndrome 1 | 122470 |
NOG | 195.2 | 1 | 0.99 | Brachydactyly, type B2, | 611377 |
NOG | 195.2 | 1 | 0.99 | Multiple synostoses syndrome 1 | 186500 |
NOG | 195.2 | 1 | 0.99 | Stapes ankylosis with broad thumb and toes, | 184460 |
NOG | 195.2 | 1 | 0.99 | Symphalangism, proximal, 1A, | 185800 |
NOG | 195.2 | 1 | 0.99 | Tarsal-carpal coalition syndrome, | 186570 |
NSD1 | 172.3 | 1 | 0.99 | Beckwith-Wiedemann syndrome, | 130650 |
NSD1 | 172.3 | 1 | 0.99 | Leukemia, acute myeloid, | 601626 |
NSD1 | 172.3 | 1 | 0.99 | Sotos syndrome 1 | 117550 |
OFD1 | 56.1 | 0.84 | 0.71 | Joubert syndrome 10 | 300804 |
OFD1 | 56.1 | 0.84 | 0.71 | Orofaciodigital syndrome I, | 311200 |
OFD1 | 56.1 | 0.84 | 0.71 | Simpson-Golabi-Behmel syndrome, type 2 | 300209 |
OFD1 | 56.1 | 0.84 | 0.71 | ?Retinitis pigmentosa 23 | 300424 |
OTX2 | 149.8 | 1 | 0.99 | Microphthalmia, syndromic 5 | 610125 |
OTX2 | 149.8 | 1 | 0.99 | Pituitary hormone deficiency, combined, 6 | 613986 |
OTX2 | 149.8 | 1 | 0.99 | Retinal dystrophy, early-onset, with or without pituitary dysfunction, | 610125 |
PAX3 | 129.7 | 0.99 | 0.99 | Craniofacial-deafness-hand syndrome, | 122880 |
PAX3 | 129.7 | 0.99 | 0.99 | Rhabdomyosarcoma 2 alveolar, | 268220 |
PAX3 | 129.7 | 0.99 | 0.99 | Waardenburg syndrome, type 1 | 193500 |
PAX3 | 129.7 | 0.99 | 0.99 | Waardenburg syndrome, type 3 | 148820 |
PAX6 | 156.1 | 1 | 0.99 | Aniridia, | 106210 |
PAX6 | 156.1 | 1 | 0.99 | Cataract with late-onset corneal dystrophy, | 106210 |
PAX6 | 156.1 | 1 | 0.99 | Coloboma of optic nerve, | 120430 |
PAX6 | 156.1 | 1 | 0.99 | Coloboma, ocular, | 120200 |
PAX6 | 156.1 | 1 | 0.99 | Foveal hypoplasia 1 | 136520 |
PAX6 | 156.1 | 1 | 0.99 | Keratitis, | 148190 |
PAX6 | 156.1 | 1 | 0.99 | Optic nerve hypoplasia, | 165550 |
PAX6 | 156.1 | 1 | 0.99 | Peters anomaly, | 604229 |
PAX6 | 156.1 | 1 | 0.99 | ?Morning glory disc anomaly, | 120430 |
PAX7 | 115.6 | 0.99 | 0.99 | Rhabdomyosarcoma 2 alveolar, | 268220 |
PAX9 | 254.3 | 0.99 | 0.98 | Tooth agenesis, selective, 3 | 604625 |
PITX2 | 155.7 | 0.99 | 0.97 | Axenfeld-Rieger syndrome, type 1 | 180500 |
PITX2 | 155.7 | 0.99 | 0.97 | Iridogoniodysgenesis, type 2 | 137600 |
PITX2 | 155.7 | 0.99 | 0.97 | Peters anomaly, | 604229 |
PITX2 | 155.7 | 0.99 | 0.97 | Ring dermoid of cornea, | 180550 |
PLCB4 | 147.9 | 0.99 | 0.95 | Auriculocondylar syndrome 2 | 614669 |
POLR1C | 124.8 | 0.99 | 0.95 | Leukodystrophy, hypomyelinating, 11 | 616494 |
POLR1C | 124.8 | 0.99 | 0.95 | Treacher Collins syndrome 3 | 248390 |
POLR1D | 196.1 | 1 | 1 | Treacher Collins syndrome 2 | 613717 |
PORCN | 145.4 | 1 | 0.99 | Focal dermal hypoplasia, | 305600 |
PTCH1 | 138.6 | 0.98 | 0.96 | Basal cell carcinoma, somatic, | 605462 |
PTCH1 | 138.6 | 0.98 | 0.96 | Basal cell nevus syndrome, | 109400 |
PTCH1 | 138.6 | 0.98 | 0.96 | Holoprosencephaly-7, | 610828 |
PTH1R | 115.5 | 0.99 | 0.99 | Chondrodysplasia, Blomstrand type, | 215045 |
PTH1R | 115.5 | 0.99 | 0.99 | Eiken syndrome, | 600002 |
PTH1R | 115.5 | 0.99 | 0.99 | Failure of tooth eruption, primary, | 125350 |
PTH1R | 115.5 | 0.99 | 0.99 | Metaphyseal chondrodysplasia, Murk Jansen type, | 156400 |
PVRL1 | 163 | 1 | 0.99 | Cleft lip/palate-ectodermal dysplasia syndrome, | 225060 |
PVRL1 | 163 | 1 | 0.99 | Orofacial cleft 7 | 225060 |
RAB23 | 121.6 | 0.99 | 0.98 | Carpenter syndrome, | 201000 |
RAD21 | 97.7 | 0.99 | 0.96 | Cornelia de Lange syndrome 4 | 614701 |
RECQL4 | 150 | 0.98 | 0.97 | Baller-Gerold syndrome, | 218600 |
RECQL4 | 150 | 0.98 | 0.97 | RAPADILINO syndrome, | 266280 |
RECQL4 | 150 | 0.98 | 0.97 | Rothmund-Thomson syndrome, | 268400 |
RUNX2 | 106.2 | 0.74 | 0.74 | Cleidocranial dysplasia, | 119600 |
RUNX2 | 106.2 | 0.74 | 0.74 | Cleidocranial dysplasia, forme fruste, dental anomalies only, | 119600 |
RUNX2 | 106.2 | 0.74 | 0.74 | Cleidocranial dysplasia, forme fruste, with brachydactyly, | 119600 |
RUNX2 | 106.2 | 0.74 | 0.74 | Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, | 156510 |
SALL1 | 147.9 | 0.99 | 0.98 | Townes-Brocks branchiootorenal-like syndrome, | 107480 |
SALL1 | 147.9 | 0.99 | 0.98 | Townes-Brocks syndrome, | 107480 |
SALL4 | 154.6 | 0.98 | 0.96 | Duane-radial ray syndrome, | 607323 |
SALL4 | 154.6 | 0.98 | 0.96 | IVIC syndrome, | 147750 |
SATB2 | 120.1 | 0.98 | 0.93 | Glass syndrome, | 612313 |
SEMA3E | 167.9 | 0.99 | 0.98 | ?CHARGE syndrome, | 214800 |
SF3B4 | 91.8 | 0.99 | 0.95 | Acrofacial dysostosis 1 Nager type, | 154400 |
SH3BP2 | 120.1 | 0.91 | 0.9 | Cherubism, | 118400 |
SHH | 110.4 | 0.98 | 0.94 | Holoprosencephaly-3, | 142945 |
SHH | 110.4 | 0.98 | 0.94 | Microphthalmia with coloboma 5 | 611638 |
SHH | 110.4 | 0.98 | 0.94 | Schizencephaly, | 269160 |
SHH | 110.4 | 0.98 | 0.94 | Single median maxillary central incisor, | 147250 |
SIX1 | 121.1 | 0.99 | 0.96 | Brachiootic syndrome 3 | 608389 |
SIX1 | 121.1 | 0.99 | 0.96 | Deafness, autosomal dominant 23 | 605192 |
SIX3 | 157.3 | 0.99 | 0.96 | Holoprosencephaly-2, | 157170 |
SIX3 | 157.3 | 0.99 | 0.96 | Schizencephaly, | 269160 |
SKI | 90.1 | 0.98 | 0.95 | Shprintzen-Goldberg syndrome, | 182212 |
SMC1A | 120 | 1 | 0.99 | Cornelia de Lange syndrome 2,30059 | 182212 |
SMC3 | 95.1 | 0.93 | 0.86 | Cornelia de Lange syndrome 3 | 610759 |
SMOC2 | 119.4 | 0.97 | 0.92 | Dentin dysplasia, type I, with microdontia and misshapen teeth, | 125400 |
SNAI2 | 151.2 | 1 | 0.99 | Piebaldism, | 172800 |
SNAI2 | 151.2 | 1 | 0.99 | Waardenburg syndrome, type 2D, | 608890 |
SOX10 | 80.4 | 0.97 | 0.93 | PCWH syndrome, | 609136 |
SOX10 | 80.4 | 0.97 | 0.93 | Waardenburg syndrome, type 2E, with or without neurologic involvement, | 611584 |
SOX10 | 80.4 | 0.97 | 0.93 | Waardenburg syndrome, type 4C, | 613266 |
SOX6 | 123.1 | 0.99 | 0.97 | No OMIM phenotype | 613266 |
SOX6 | 123.1 | 0.99 | 0.97 | Developmental delay and spinal syrinx (Scott -2014 J Child Neurol 29 NP164) | 613266 |
SOX6 | 123.1 | 0.99 | 0.97 | Dystonia, dopa-responsive (Ebrahimi-Fakhari -2015 Pediatr Neurol 52,115) | 613266 |
SOX6 | 123.1 | 0.99 | 0.97 | ?Craniosynostosis (Tagariello -2006 J Med Genet 43,534) | 613266 |
SPECC1L | 172.6 | 1 | 1 | Opitz GBBB syndrome, type II, | 145410 |
SPECC1L | 172.6 | 1 | 1 | ?Facial clefting, oblique, 1 | 600251 |
SUMO1 | 17.9 | 0.56 | 0.36 | Orofacial cleft 10 | 613705 |
TBX22 | 138.3 | 0.99 | 0.96 | Cleft palate with ankyloglossia, | 303400 |
TBX22 | 138.3 | 0.99 | 0.96 | ?Abruzzo-Erickson syndrome, | 302905 |
TCF12 | 168 | 1 | 0.99 | Craniosynostosis 3 | 615314 |
TCOF1 | 102.6 | 0.99 | 0.97 | Treacher Collins syndrome 1 | 154500 |
TFAP2A | 138 | 1 | 0.99 | Branchiooculofacial syndrome, | 113620 |
TGFBR1 | 213.8 | 0.95 | 0.93 | Loeys-Dietz syndrome 1 | 609192 |
TGFBR1 | 213.8 | 0.95 | 0.93 | {Multiple self-healing squamous epithelioma, susceptibility to}, | 132800 |
TGFBR2 | 215.3 | 1 | 1 | Colorectal cancer, hereditary nonpolyposis, type 6 | 614331 |
TGFBR2 | 215.3 | 1 | 1 | Esophageal cancer, somatic, | 133239 |
TGFBR2 | 215.3 | 1 | 1 | Loeys-Dietz syndrome 2 | 610168 |
TGIF1 | 151.6 | 0.99 | 0.99 | Holoprosencephaly-4, | 142946 |
TP63 | 217.6 | 1 | 1 | ADULT syndrome, | 103285 |
TP63 | 217.6 | 1 | 1 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | 604292 |
TP63 | 217.6 | 1 | 1 | Hay-Wells syndrome, | 106260 |
TP63 | 217.6 | 1 | 1 | Limb-mammary syndrome, | 603543 |
TP63 | 217.6 | 1 | 1 | Orofacial cleft 8 | 129400 |
TP63 | 217.6 | 1 | 1 | Rapp-Hodgkin syndrome, | 129400 |
TP63 | 217.6 | 1 | 1 | Split-hand/foot malformation 4 | 605289 |
TRAF6 | 105.9 | 0.96 | 0.88 | No OMIM phenotype | 605289 |
TRAF6 | 105.9 | 0.96 | 0.88 | Ectodermal dysplasia, hypohidrotic (Wisniewski -2012 Br J Dermatol 166,1353) | 605289 |
TSHZ1 | 173.3 | 0.98 | 0.98 | Aural atresia, congenital, | 607842 |
TWIST1 | 143 | 0.95 | 0.86 | Craniosynostosis, type 1 | 123100 |
TWIST1 | 143 | 0.95 | 0.86 | Robinow-Sorauf syndrome, | 180750 |
TWIST1 | 143 | 0.95 | 0.86 | Saethre-Chotzen syndrome with eyelid anomalies, | 101400 |
TWIST1 | 143 | 0.95 | 0.86 | Saethre-Chotzen syndrome, | 101400 |
UBB | 71.7 | 1 | 0.99 | Cleft palate, isolated, | 119540 |
VAX1 | 61.3 | 0.89 | 0.79 | ?Microphthalmia, syndromic 11 | 614402 |
WDR19 | 153.5 | 0.99 | 0.97 | Nephronophthisis 13 | 614377 |
WDR19 | 153.5 | 0.99 | 0.97 | Senior-Loken syndrome 8 | 616307 |
WDR19 | 153.5 | 0.99 | 0.97 | ?Cranioectodermal dysplasia 4 | 614378 |
WDR19 | 153.5 | 0.99 | 0.97 | ?Short-rib thoracic dysplasia 5 with or without polydactyly, | 614376 |
WDR35 | 167.2 | 0.98 | 0.96 | Cranioectodermal dysplasia 2 | 613610 |
WDR35 | 167.2 | 0.98 | 0.96 | Short-rib thoracic dysplasia 7 with or without polydactyly, | 614091 |
WDR72 | 161.7 | 0.99 | 0.97 | Amelogenesis imperfecta, type IIA3, | 613211 |
WNT10A | 114.7 | 0.99 | 0.98 | Odontoonychodermal dysplasia, | 257980 |
WNT10A | 114.7 | 0.99 | 0.98 | Schopf-Schulz-Passarge syndrome, | 224750 |
WNT10A | 114.7 | 0.99 | 0.98 | Tooth agenesis, selective, 4 | 150400 |
ZEB2 | 181.5 | 1 | 0.99 | Mowat-Wilson syndrome, | 235730 |
ZIC2 | 111.1 | 0.89 | 0.79 | Holoprosencephaly-5, | 609637 |