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*310200
MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC
PROGRESSIVE, DUCHENNE AND BECKER TYPES
*158900
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A;
FSHMD1A
*253800
FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY;
FCMD
#253600
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A;
LGMD2A
#181350
EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL
DOMINANT; EDMD2
*253700
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C;
LGMD2C
*310300
EMERY-DREIFUSS MUSCULAR DYSTROPHY
*600119
SARCOGLYCAN, ALPHA; SGCA
*159000
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A;
LGMD1A
#164300
OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD
*600334
TIBIAL MUSCULAR DYSTROPHY, TARDIVE
#253601
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B;
LGMD2B
*254110
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H
*159001
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B;
LGMD1B
310095 MUSCULAR DYSTROPHY, PROGRESSIVE
PECTORODORSAL
#257950
MUSCULAR DYSTROPHY, OCULOPHARYNGEAL, AUTOSOMAL
RECESSIVE
*158901
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B;
FSHMD1B
*156225
LAMININ, ALPHA-2; LAMA2
*160900
DYSTROPHIA MYOTONICA; DMPK
*600900
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E;
LGMD2E
*236670
WALKER-WARBURG SYNDROME
#254130
MIYOSHI MYOPATHY; MM
*601253
CAVEOLIN 3; CAV3
#226670
EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE
MUSCULAR DYSTROPHY
#158810
MYOPATHY, BENIGN CONGENITAL, WITH
CONTRACTURES
#601287
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F;
LGMD2F
*603511
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1D;
LGMD1D
600416 MUSCULAR DYSTROPHY, SCAPULOHUMERAL
254100 MUSCULAR DYSTROPHY, CONGENITAL, WITH
RAPID PROGRESSION
*159050
MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC, WITH
INTERNALIZED CAPILLARIES
254090 MUSCULAR DYSTROPHY, SCLEROATONIC
*253900
MUSCULAR DYSTROPHY, CONGENITAL, PRODUCING
ARTHROGRYPOSIS
*602771
MUSCULAR DYSTROPHY, CONGENITAL,
MEROSIN-POSITIVE, WITH EARLY SPINE RIGIDITY
253590 MUSCULAR DYSTROPHY, ADULT-ONSET, WITH
LEUKOENCEPHALOPATHY
600506 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE
4; LGMD4
*277320
VISCERAL MYOPATHY, FAMILIAL, WITH EXTERNAL
OPHTHALMOPLEGIA
601170 MUSCULAR DYSTROPHY, CONGENITAL, WITH
SEVERE CENTRAL NERVOUS SYSTEM ATROPHY AND ABSENCE
OF LARGE MYELINATED FIBERS
#601173
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL
RECESSIVE
253850 MUSCULAR DYSTROPHY, CONGENITAL,
EICHSFELD TYPE
603323 MUSCULAR DYSTROPHY, CONGENITAL, WITH
CEREBELLAR ATROPHY
310000 MUSCULAR DYSTROPHY, MABRY TYPE
*601954
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G;
LGMD2G
254000 MUSCULAR DYSTROPHY, CONGENITAL, WITH
INFANTILE CATARACT AND HYPOGONADISM
*602067
CARDIOMYOPATHY, DILATED, 1F; CMD1F
602541 MUSCULAR DYSTROPHY, CONGENITAL,
MEGACONIAL TYPE
*601846
MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT, WITH
RIMMED VACUOLES; MDRV
309660 MENTAL RETARDATION, SCAPULOPERONEAL
MUSCULAR DYSTROPHY, AND LETHAL CARDIOMYOPATHY
309950 MUSCULAR DYSTROPHY, HEMIZYGOUS LETHAL
TYPE
158800 MUSCULAR DYSTROPHY, BARNES TYPE
309930 MUSCULAR DYSTROPHY, CARDIAC TYPE
*601278
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY REGION
GENE 1; FRG1
204730 AMINOACIDURIA WITH MENTAL DEFICIENCY,
DWARFISM, MUSCULAR DYSTROPHY, OSTEOPOROSIS, AND
ACIDOSIS
*158600
MUSCULAR ATROPHY, JUVENILE SPINAL
#253400
SPINAL MUSCULAR ATROPHY III; SMA3
*603009
DYSFERLIN; DYSF
*114240
CALPAIN, LARGE POLYPEPTIDE L3; CAPN3
#253300
SPINAL MUSCULAR ATROPHY I; SMA1
*601411
SARCOGLYCAN, DELTA; SGCD
*182970
SPINAL MUSCULAR ATROPHY, FACIOSCAPULOHUMERAL
TYPE; FSHSMA
*601282
PLECTIN 1; PLEC1
*150330
LAMIN A/C; LMNA
*128240
UTROPHIN; UTRN
*307030
HYPERGLYCEROLEMIA
*181405
AMYOTROPHY, NEUROGENIC SCAPULOPERONEAL, NEW
ENGLAND TYPE
*128239
DYSTROPHIN-ASSOCIATED GLYCOPROTEIN 1; DAG1
*300200
ADRENAL HYPOPLASIA, CONGENITAL; AHC
*193700
WHISTLING FACE-WINDMILL VANE HAND SYNDROME
271200 SPINAL MUSCULAR ATROPHY, RYUKYUAN
TYPE
*300600
ALBINISM, OCULAR, TYPE II; OA2
*602668
DYSTROPHIA MYOTONICA 2; DM2
*234200
HALLERVORDEN-SPATZ DISEASE
*158580
MYOPATHY, DISTAL, WITH VOCAL CORD AND
PHARYNGEAL WEAKNESS
*602279
POLYADENYLATE-BINDING PROTEIN 2; PABP2
123320 CREATINE PHOSPHOKINASE, ELEVATED
SERUM
*181400
AMYOTROPHY, SCAPULOPERONEAL
*232300
GLYCOGEN STORAGE DISEASE II
#160800
MYOTONIA CONGENITA, DOMINANT
*253280
MUSCLE-EYE-BRAIN DISEASE
*313700
ANDROGEN RECEPTOR; AR
*601239
DYSTROBREVIN, ALPHA; DTNA
*306400
GRANULOMATOUS DISEASE, CHRONIC; CGD
*103220
ADENINE NUCLEOTIDE TRANSLOCATOR 1; ANT1
*120575
COMPLEMENT COMPONENT 1, q SUBCOMPONENT, GAMMA
POLYPEPTIDE; C1QG
*120570
COMPLEMENT COMPONENT 1, q SUBCOMPONENT, BETA
POLYPEPTIDE; C1QB
*312600
RETINITIS PIGMENTOSA 2; RP2
*120550
COMPLEMENT COMPONENT 1, q SUBCOMPONENT, ALPHA
POLYPEPTIDE; C1QA
*131300
ENGELMANN DISEASE
*600536
INTEGRIN, ALPHA-7; ITGA7
*160500
MYOPATHY, DISTAL 1; MPD1
*300030
DEAFNESS, X-LINKED 4, CONGENITAL
SENSORINEURAL; DFN4
*162200
NEUROFIBROMATOSIS, TYPE I; NF1
*163731
NITRIC OXIDE SYNTHASE 1; NOS1
*300017
FILAMIN A, ALPHA; FLNA
*181430
SCAPULOPERONEAL MYOPATHY; SPM
*601047
CAVEOLIN 1; CAV1
*114750
CARBONIC ANHYDRASE III; CA3
*312610
RETINITIS PIGMENTOSA 3; RP3
226440 EPIDERMOLYSIS BULLOSA, LATE-ONSET
LOCALIZED JUNCTIONAL, WITH MENTAL RETARDATION
*136535
FORMIN; FMN
*309900
MUCOPOLYSACCHARIDOSIS TYPE II
*300023
RHO-GAP HEMATOPOIETIC PROTEIN C1
*300170
CHROMOSOME X OPEN READING FRAME 5; CXORF5
*134797
FIBRILLIN 1; FBN1
*600109
PROXIMAL MYOTONIC MYOPATHY; PROMM
*314850
KELL BLOOD GROUP PRECURSOR; XK
*602415
DYSTROBREVIN, BETA; DTNB
*248800
MARINESCO-SJOGREN SYNDROME; MSS
*151628
LINE RETROTRANSPOSABLE ELEMENT 2; LRE2
*310500
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE
1; CSNB1
*305360
MEMBRANE PROTEIN, PALMITOYLATED 1; MPP1
#300087
X INACTIVATION, FAMILIAL SKEWED, 1; SXI1
*125660
DESMIN; DES
*208100
ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC
TYPE; AMCN
214150 CEREBROOCULOFACIOSKELETAL SYNDROME
#302045
CARDIOMYOPATHY, DILATED, X-LINKED; XLCM
*160000
MYOGLOBIN; MB
*232500
GLYCOGEN STORAGE DISEASE IV
*179508
RAS-ASSOCIATED PROTEIN RAB1; RAB1
*190180
TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1
*306700
HEMOPHILIA A
160570 MYOPATHY WITH STORAGE OF GLYCOPROTEINS
AND GLYCOSAMINOGLYCANS
257300 NONDISJUNCTION
*188840
TITIN; TTN
*276901
USHER SYNDROME, TYPE IIA; USH2A
*255800
SCHWARTZ-JAMPEL SYNDROME; SJS
*301500
ANGIOKERATOMA, DIFFUSE
*314700
XG BLOOD GROUP SYSTEM; XG; PBDX
*601484
SELENOPROTEIN P, PLASMA, 1; SEPP1
*120220
COLLAGEN, TYPE VI, ALPHA-1; COL6A1
*600341
TYRO3 PROTEIN TYROSINE KINASE; TYRO3
310440 MYOPATHY, X-LINKED, WITH EXCESSIVE
AUTOPHAGY; XMEA; MEAX
*311250
ORNITHINE TRANSCARBAMYLASE DEFICIENCY,
HYPERAMMONEMIA DUE TO; OTC
*600538
PEROXIDE REDUCTASE, THIOREDOXIN-DEPENDENT;
TDPX1
600118 WARBURG MICRO SYNDROME
*601048
CAVEOLIN 2; CAV2
*106210
PAIRED BOX HOMEOTIC GENE 6; PAX6
#117000
CENTRAL CORE DISEASE OF MUSCLE
123270 CREATINE KINASE, BRAIN TYPE, ECTOPIC
EXPRESSION OF; CKBE
#306190
GONADOTROPIN DEFICIENCY; GTD
*305400
FACIOGENITAL DYSPLASIA; FGD1
*302960
CHONDRODYSPLASIA PUNCTATA 2, X-LINKED
DOMINANT; CDPX2
*300500
ALBINISM, OCULAR, TYPE 1; OA1
*300048
INTESTINAL PSEUDOOBSTRUCTION, NEURONAL,
CHRONIC IDIOPATHIC, X-LINKED
*300037
GLYPICAN 3; GPC3
*300100
ADRENOLEUKODYSTROPHY; ALD
*300036
SOLUTE CARRIER FAMILY 6, MEMBER 8; SLC6A8
*312820
SARCOMA, SYNOVIAL, X BREAKPOINT 1; SSX1
*300081
DEOXYRIBONUCLEASE I-LIKE 1; DNASE1L1
*120240
COLLAGEN, TYPE VI, ALPHA-2; COL6A2
*308100
ICHTHYOSIS, X-LINKED
*308840
L1 CELL ADHESION MOLECULE; L1CAM
*314300
TORTICOLLIS, KELOIDS, CRYPTORCHIDISM, AND
RENAL DYSPLASIA; TKCR
277720 WHISTLING FACE SYNDROME, RECESSIVE
FORM
*309530
MENTAL RETARDATION, X-LINKED NONSPECIFIC, TYPE
1; MRX1
*275630
TRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED
LONG-CHAIN FATTY ACID OXIDATION
*309000
LOWE OCULOCEREBRORENAL SYNDROME; OCRL
*600308
AQUAPORIN 4; AQP4
*601143
DYNACTIN 1; DCTN1
601160 LISSENCEPHALY SYNDROME TYPE III
*601162
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT
*114250
CALSEQUESTRIN, FAST-TWITCH, SKELETAL MUSCLE 1;
CASQ1; CASQ
#256030
NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE;
NEM2
255600 MYOSCLEROSIS, CONGENITAL, OF
LOWENTHAL
*109150
MACHADO-JOSEPH DISEASE; MJD
140300 HASHIMOTO STRUMA
*151626
LINE RETROTRANSPOSABLE ELEMENT 1; LRE1
*600310
CARTILAGE OLIGOMERIC MATRIX PROTEIN; COMP
*601296
MUSCLE, SKELETAL, RECEPTOR TYROSINE KINASE;
MUSK
*232400
GLYCOGEN STORAGE DISEASE III
*125370
DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY;
DRPLA
*601556
ATAXIN 1; ATX1
*224050
DYSEQUILIBRIUM SYNDROME; DES
#220290
DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1;
DFNB1
212905 CEREBELLAR ATAXIA WITH NEURONAL
MIGRATION DEFECT
*602137
NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA
SUBCOMPLEX, 2; NDUFA2
*202110
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO
17-ALPHA-HYDROXYLASE DEFICIENCY
*180200
RETINOBLASTOMA; RB1
*602421
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE
REGULATOR; CFTR
*178300
PTOSIS, HEREDITARY CONGENITAL 1; PTOS1
*169400
PELGER-HUET ANOMALY
#164400
SPINOCEREBELLAR ATAXIA 1; SCA1
#161800
NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT;
NEM1
*603073
ZIC FAMILY MEMBER 2; ZIC2
#100800
ACHONDROPLASIA; ACH
258450 OPHTHALMOPLEGIA, PROGRESSIVE
EXTERNAL
^603676
MOVED TO 181350
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