|
681
|
|
|
MIER family member 2 |
KIAA1193, Mi-er2 |
|
|
682
|
|
|
Myotubularin related protein 12 |
3-PAP, PIP3AP |
|
|
683
|
|
|
MAGE family member L2 |
NDNL1, PWLS, SHFYNG, nM15 |
Acromicria, Acromicric dysplasia, Arthrogryposis multiplex congenita, Attention deficit hyperactivity disorder, Autism, Brachydactyly, Central hypothyroidism, Clinodactyly, Congenital camptodactyly, Congenital pectus excavatum, Craniosynostosis, Cryptorchidism, Developmental delay, Diabetes insipidus, Distal arthrogryposis, Dolichocephaly, Dwarfism, Dysmorphic features, Dysphagia, Esotropia, Frontal bossing, Gastroesophageal reflux disease, High palate, Hydronephrosis, Hyperinsulinism, Hyperopia, Hypogonadism, Hypogonadotropic hypogonadism, Hypopituitarism, Hypothyroidism, Isolated somatotropin deficiency, Laryngomalacia, Lung diseases, Malocclusion, Mental retardation, Microphthalmos, Motor delay, Multiple congenital anomalies, Myopia, Hypotonia, Nystagmus, Obesity, Obstructive hydrocephalus, Oromotor apraxia, Osteopenia, Panhypopituitarism, Penis agenesis, Physiologic amenorrhea, Prader-willi syndrome, Prader-willi-like syndrome, Precocious puberty, Royer syndrome, Scoliosis, Skeletal dysplasia, Sleep apnea, Somatotropin deficiency, Specific learning disorder, Strabismus, Trigonocephaly, Vertical talusView all (45 more) |
|
684
|
|
|
Mediator complex subunit 1 |
CRSP1, CRSP200, DRIP205, DRIP230, PBP, PPARBP, PPARGBP, RB18A, TRAP220, TRIP2 |
|
|
685
|
|
|
MKS transition zone complex subunit 1 |
BBS13, JBTS28, MES, MKS, POC12 |
Agenesis of corpus callosum, Ambiguous genitalia, Anencephaly, Aortic coarctation, Arnold-chiari malformation, Bardet-biedl syndrome, Cataract, Cerebellar hypoplasia, Cerebellar vermis agenesis, Chronic obstructive pulmonary disease, Ciliopathies, Clinodactyly, Asplenia, Congenital cerebral hernia, Congenital coloboma of iris, Congenital hepatic fibrosis, Pulmonary hypoplasia, Hypoplasia of the ovary, Congenital hypoplasia of penis, Congenital malrotation of intestine, Congenital omphalocele, Cryptorchidism, Cystic liver disease, Dandy-walker syndrome, Developmental delay, Dextrocardia, Disorder of eye, Double ureter, Dwarfism, Fibrosis of pancreas, Foot polydactyly, Fundus coloboma, Heart septal defects, Hirschsprung disease, Hydrocephalus, Hypertension, Hypogonadism, Imperforate anus, Joubert syndrome, Joubert syndrome with ocular defect, Kidney disease, Leber congenital amaurosis, Liver fibrosis, Lobar holoprosencephaly, Macrostomia, Male pseudohermaphroditism, Meckel syndrome, Meckel-gruber syndrome, Mental retardation, Microcephaly, Microcornea, Micrognathism, Microphthalmos, Multicystic renal dysplasia, Neck webbing, Nephrotic syndrome, Nystagmus, Obesity, Occipital encephalocele, Oculomotor apraxia, Oculovestibuloauditory syndrome, Optic atrophy, Oral cleft, Pancreatic cyst, Patent ductus arteriosus, Polycystic kidney disease, Polycystic liver disease, Polydactyly, Polydactyly of toes, Polymicrogyria, Ptosis, Renal agenesis, Renal fibrosis, Retinal coloboma, Retinal dystrophy, Retinitis pigmentosa, Rod-cone dystrophy, Rotary nystagmus, Sclerocornea, Scoliosis, Situs inversus, Speech disorders, Strabismus, Syndactyly, Syndactyly of fingers, Syndromic microphthalmia, Talipes, True hermaphroditism, Postaxial hand polydactyly, Urethral atresia, Uterine anomaliesView all (76 more) |
|
686
|
|
|
Mitochondrial calcium uniporter dominant negative subunit beta |
CCDC109B |
|
|
687
|
|
|
Molybdenum cofactor sulfurase |
HMCS, MCS, MOS |
|
|
688
|
|
|
Mago homolog B, exon junction complex subunit |
MGN2, mago, magoh |
|
|
689
|
|
|
Mitochondrial poly(A) polymerase |
PAPD1, SPAX4, TENT6 |
|
|
690
|
|
|
Misato mitochondrial distribution and morphology regulator 1 |
LST005, MMYAT, MST |
Anxiety disorder, Autism, Cerebellar ataxia, Cerebellar atrophy, Cerebellar hypoplasia, Congenital pectus excavatum, Distal amyotrophy, Dwarfism, Expressive language delay, High palate, Hyperthyroidism, Isolated somatotropin deficiency, Language disorders, Lipoma, Malocclusion, Mental depression, Mental retardation, Micrognathism, Mitochondrial myopathy, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Motor delay, Multiple lipomata, Physiologic amenorrhea, Receptive language delay, Retinitis pigmentosa, Schizophrenia, ScoliosisView all (12 more) |
