Gene |
Gene
OMIM |
Disease |
Disease
OMIM |
Comment |
Price
in Euro |
| ADAMTS10 (A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 10) |
608990 |
WEILL-MARCHESANI SYNDROME (AUTOSOMAL RECESSIVE)
» SPHEROPHAKIA-BRACHYMORPHIA SYNDROME
» MESODERMAL DYSMORPHODYSTROPHY, CONGENITAL |
277600 |
|
1816 |
| AGPAT2 (1-@ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 2) |
603100 |
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1
» BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 1
» BRUNZELL SYNDROME, AGPAT2-RELATED |
608594 |
|
658 |
| ASPA (ASPARTOACYLASE) |
608034 |
CANAVAN DISEASE
» CANAVAN-VAN BOGAERT-BERTRAND DISEASE
» ASPARTOACYLASE DEFICIENCY
» SPONGY DEGENERATION OF CENTRAL NERVOUS SYSTEM |
271900 |
Whole Gene |
658 |
| C3 (COMPLEMENT COMPONENT 3) |
120700 |
COMPLEMENT COMPONENT 3 DEFICIENCY (AUTOSOMAL RECESSIVE)
» C3 DEFICIENCY (AUTOSOMAL RECESSIVE) |
120700 |
|
1500 |
| MACULAR DEGENERATION, AGE-RELATED, TYPE 9, SUSCEPTIBILITY TO |
611378 |
|
1500 |
| CCDC50 (COILED-COIL DOMAIN-CONTAINING PROTEIN 50) |
611051 |
DEAFNESS, DFNA44
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 44 |
607453 |
|
1280 |
| CFB (COMPLEMENT FACTOR B;PROPERDIN FACTOR B; FACTOR B; C3 PROACTIVATOR; GLYCINE-RICH BETA-GLYCOPROTEIN) |
138470 |
MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF |
173470 |
|
1100 |
| CISD2 (CDGSH IRON SULFUR DOMAIN PROTEIN 2) |
611507 |
WOLFRAM SYNDROME TYPE 2, WFS2 |
604928 |
|
396 |
| CLN5 |
608102 |
CEROID
LIPOFUCSINOSIS, CLN5
» NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, FINNISH VARIANT |
256731 |
|
700 |
| CLN8 |
607837 |
CEROID
LIPOFUCSINOSIS, CLN8
» CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT
» NORTHERN EPILEPSY
» EPILEPSY, PROGRESSIVE, WITH MENTAL RETARDATION |
610003 |
|
700 |
CLN PANEL:
-
CLN1
- CLN2
-
CLN3
-
CLN5
-
CLN6
-
CLN7
-
CLN8
-
CLN10 |
|
CEROID LIPOFUSCINOSIS, CLN |
|
|
2200 |
| CNGB3 (CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-3) |
605080 |
ACHROMATOPSIA, TYPE 3 |
262300 |
|
1728 |
STARGARDT DISEASE, TYPE 1
» MACULAR DEGENERATION, JUVENILE
» FUNDUS FLAVIMACULATUS
» MACULAR DYSTROPHY WITH FLECKS, TYPE 1 |
248200 |
|
1728 |
| CSPG2 (CHONDROITIN SULFATE PROTEOGLYCAN 2, VERSICAN) |
118661 |
WAGNER SYNDROME, TYPE 1 |
143200 |
|
3148 |
| DARS2 (ASPARTYL-tRNA SYNTHETASE 2) |
610956 |
LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION
» MITOCHONDRIAL ASPARTYL-tRNA SYNTHETASE DEFICIENCY |
611105 |
|
1640 |
| DBH (DOPAMINE BETA-HYDROXYLASE, PLASMA; DOPAMINE BETA-MONOOXYGENASE) |
609312 |
DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL
» NOREPINEPHRINE DEFICIENCY
» NORADRENALINE DEFICIENCY |
223360 |
|
1500 |
| DCTN1 (DYNACTIN 1) |
601143 |
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE 7B |
607641 |
|
2350 |
| AMYOTROPHIC LATERAL SCLEROSIS, TYPE 1, ALS1 |
105400 |
|
2350 |
| DFNA5 (ICERE) |
608798 |
DEAFNESS, DFNA5
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 5 |
600994 |
|
920 |
| DHH (DESERT HEDGEHOG) |
605423 |
GONADAL DYSGENESIS, XY TYPE |
233420 |
|
570 |
| GONADAL DYSGENESIS, 46XY, PARTIAL, WITH MINIFASCICULAR NEUROPATHY |
607080 |
|
570 |
| DIAPH1 (DIAPHANOUS, DROSOPHILA, HOMOLOG OF, 1) |
602121 |
DEAFNESS, DFNA1
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 1 |
124900 |
|
2613 |
| ELOVL4 (ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 4) |
605512 |
STARGARDT DISEASE, TYPE 3
» MACULAR DYSTROPHY WITH FLECKS, TYPE 3 |
600110 |
|
658 |
| EYA4 (EYES ABSENT 4) |
603550 |
DEAFNESS, DFNA10
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 10 |
601316 |
|
1728 |
CARDIOMYOPATHY, DILATED, TYPE 1J
» CARDIOMYOPATHY, DILATED, WITH SENSORINEURAL HEARING LOSS (AUTOSOMAL DOMINANT) |
605362 |
|
1728 |
| FKTN (FUKUTIN; FCMD) |
607440 |
FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY
» MUSCULAR DYSTROPHY, CONGENITAL PROGRESSIVE, WITH MENTAL RETARDATION
» MICROPOLYGYRIA WITH MUSCULAR DYSTROPHY
» CEREBROMUSCULAR DYSTROPHY, FUKUYAMA TYPE |
253800 |
|
900 |
WALKER-WARBURG SYNDROME
» HYDROCEPHALUS, AGYRIA, AND RETINAL DYSPLASIA
» HARD SYNDROME
» PAGON SYNDROME |
236670 |
|
900 |
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M, LGMD2M |
611588 |
|
900 |
| CARDIOMYOPATHY, DILATED, TYPE 1X |
611615 |
|
900 |
| GUCY2D (GUANYLATE CYCLASE 2D, MEMBRANE) |
600179 |
LEBER CONGENITAL AMAUROSIS, TYPE 1, LCA1
» RETINAL BLINDNESS, CONGENITAL |
204000 |
|
1800 |
| CONE-ROD DYSTROPHY, TYPE 6, CORD6 |
601777 |
|
1800 |
| GUSB (BETA-GLUCURONIDASE) |
611499 |
MUCOPOLYSACCHARIDOSIS TYPE 7, MPS7
» SLY SYNDROME
» BETA-GLUCURONIDASE DEFICIENCY |
253220 |
|
1106 |
| HJV (HEMOJUVELIN) |
608374 |
HEMOCHROMATOSIS,
TYPE 2, HFE2
» HEMOCHROMATOSIS, JUVENILE
» HEMOCHROMATOSIS
DUE TO DEFECT IN HEMOJUVELIN
» HEMOCHROMATOSIS DUE TO DEFECT IN HEPCIDIN ANTIMICROBIAL PEPTIDE |
602390 |
|
570 |
| HSN2 |
608620 |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE 2, HSAN2
» ACROOSTEOLYSIS, NEUROGENIC
» MORVAN DISEASE
» NEUROPATHY, PROGRESSIVE SENSORY, OF CHILDREN |
201300 |
|
483 |
| HSPB8 (HEAT-SHOCK 22-KD PROTEIN 8) |
608014 |
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE 2A
» SPINAL MUSCULAR ATROPHY, DISTAL, ADULT (AUTOSOMAL DOMINANT), TYPE 2A
» CHARCOT-MARIE-TOOTH DISEASE, SPINAL, TYPE 2A |
158590 |
|
756 |
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L, CMT2L |
608673 |
|
756 |
| HYAL1 (HYALURONOGLUCOSAMINIDASE 1; HYALURONIDASE 1) |
607071 |
MUCOPOLYSACCHARIDOSIS TYPE 9, MPS9
» HYALURONIDASE DEFICIENCY |
601492 |
|
931 |
| IKBKAP (IKK COMPLEX-ASSOCIATED PROTEIN, IKAP) |
603722 |
DYSAUTONOMIA, FAMILIAL, DYS
» RILEY-DAY SYNDROME
» HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY, TYPE 3, HSAN3 |
223900 |
Whole Gene |
3148 |
| ITGB3 (INTEGRIN, BETA-3) |
173470 |
THROMBASTHENIA OF GLANZMANN AND NAEGELI
» PLATELET GLYCOPROTEIN IIb-IIIa DEFICIENCY
» PLATELET FIBRINOGEN RECEPTOR, DEFICIENCY OF |
273800 |
|
1000 |
THROMBOCYTOPENIA, NEONATAL ALLOIMMUNE
» POSTTRANSFUSION PURPURA |
173470 |
|
1000 |
| KCNC3 (POTASSIUM CHANNEL, VOLTAGE-GATED, SHAW-RELATED SUBFAMILY, MEMBER 3) |
176264 |
SPINOCEREBELLAR ATAXIA 13, SCA13 |
605259 |
|
931 |
| KCNQ4 (POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 4) |
603537 |
DEAFNESS, DFNA2
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 2 |
600101 |
|
1280 |
| KIAA0196 (STRUMPELLIN) |
610657 |
FAMILIAL SPASTIC PARAPLEGIA 8 (AUTOSOMAL DOMINANT), SPG8 |
603563 |
|
2525 |
| KIAA1840 (SPATACSIN) |
610844 |
FAMILIAL SPASTIC PARAPLEGIA 11 (AUTOSOMAL RECESSIVE), SPG11 |
604360 |
|
3988 |
| LIPA (LIPASE A, LYSOSOMAL ACID;CHOLESTEROL ESTER HYDROLASE) |
278000 |
WOLMAN DISEASE
» LYSOSOMAL ACID LIPASE DEFICIENCY
» LIPA DEFICIENCY
» CHOLESTERYL ESTER STORAGE DISEASE |
278000 |
|
843 |
| MTHFR (5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE) |
607093 |
MTHFR DEFICIENCY
» HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY |
236250 |
|
1193 |
| MTMR2 (MYOTUBULARIN-RELATED PROTEIN 2) |
603557 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1
» CHARCOT-MARIE-TOOTH DISEASE WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 4B1 (AUTOSOMAL RECESSIVE) |
601382 |
|
1378 |
| MTR (5-@METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE; TETRAHYDROPTEROYLGLUTAMATE METHYLTRANSFERASE) |
156570 |
METHYLCOBALAMIN DEFICIENCY, cblG TYPE
» HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblG COMPLEMENTATION TYPE |
250940 |
|
3060 |
| MYH8 (MYOSIN, HEAVY CHAIN 8, SKELETAL MUSCLE, PERINATAL) |
160741 |
TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME
» CARNEY COMPLEX VARIANT ASSOCIATED WITH DISTAL ARTHROGRYPOSIS |
608837 |
|
1800 |
| MYH14 (MYOSIN, HEAVY CHAIN 14, NONMUSCLE) |
608568 |
DEAFNESS, DFNA4
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 4 |
600652 |
|
3672 |
| MYO15A (MYOSIN 15A) |
602666 |
DEAFNESS, DFNB3
» DEAFNESS, (AUTOSOMAL RECESSIVE), NONSYNDROMIC SENSORINEURAL 3 |
600316 |
|
5823 |
| MYO3A (MYOSIN 3A) |
606808 |
DEAFNESS, DFNB30
» DEAFNESS, (AUTOSOMAL RECESSIVE), NONSYNDROMIC SENSORINEURAL 30 |
607101 |
|
3050 |
| MYO6 (MYOSIN 6) |
600970 |
DEAFNESS, DFNA22
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 22 |
606346 |
|
3050 |
DEAFNESS, DFNB37
» DEAFNESS, (AUTOSOMAL RECESSIVE), NONSYNDROMIC SENSORINEURAL 37 |
607821 |
|
3050 |
| NGFB (NERVE GROWTH FACTOR, BETA SUBUNIT) |
162030 |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE 5, HSAN5
» INSENSITIVITY TO PAIN, CONGENITAL |
608654 |
|
396 |
| NPHS2, TRPC6, ACTN4 and CD2AP |
|
FOCAL SEGMENTAL GLOMERULOSCLEROSIS |
|
|
2200 |
| PLEKHG4 (PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY G, MEMBER 4; PURATROPHIN 1) |
609526 |
SPINOCEREBELLAR ATAXIA, 16q22-LINKED |
117210 |
|
1728 |
| POMGNT1 (PROTEIN O-MANNOSE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE) |
606822 |
MUSCLE-EYE-BRAIN DISEASE |
253280 |
|
1900 |
| POMT1 (PROTEIN O-MANNOSYLTRANSFERASE 1) |
607423 |
WALKER-WARBURG SYNDROME
» HYDROCEPHALUS, AGYRIA, AND RETINAL DYSPLASIA
» HARD SYNDROME
» PAGON SYNDROME |
236670 |
|
1100 |
| MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K, LGMD2K |
609308 |
|
1100 |
| POMT2 (PROTEIN O-MANNOSYLTRANSFERASE 2) |
607439 |
WALKER-WARBURG SYNDROME
» HYDROCEPHALUS, AGYRIA, AND RETINAL DYSPLASIA
» HARD SYNDROME
» PAGON SYNDROME |
236670 |
|
1100 |
| POU4F3 (POU DOMAIN, CLASS 4, TRANSCRIPTION FACTOR 3) |
602460 |
DEAFNESS, DFNA15
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 15 |
602459 |
|
483 |
| PRPS1 (PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE I) |
311850 |
ARTS SYNDROME
» ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION |
301835 |
|
756 |
PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
» PRPS1 SUPERACTIVITY |
300661 |
|
756 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 5, CMTX5 (X-LINKED RECESSIVE)
» OPTIC ATROPHY, POLYNEUROPATHY, AND DEAFNESS
» ROSENBERG-CHUTORIAN SYNDROME |
311070 |
|
756 |
| RLBP1 (RETINALDEHYDE-BINDING PROTEIN 1) |
180090 |
RETINITIS PIGMENTOSA, RP |
268000 |
|
756 |
| NEWFOUNDLAND ROD-CONE DYSTROPHY |
607476 |
|
756 |
BOTHNIA RETINAL DYSTROPHY
» VASTERBOTTEN DYSTROPHY |
607475 |
|
756 |
FUNDUS ALBIPUNCTATUS
» RETINITIS PUNCTATA ALBESCENS |
136880 |
|
756 |
| ROBO2 (ROUNDABOUT, DROSOPHILA, HOMOLOG OF, 2) |
602431 |
VESICOURETERAL REFLUX 2 |
610878 |
|
2438 |
| SACS (SACSIN) |
604490 |
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE, SACS, ARSACS |
270550 |
2 French Canadian Mutations: 6594delT and 5254 C>T |
250 |
| SBF2 (SET-BINDING FACTOR 2; MYOTUBULARIN-RELATED 13; MTMR13) |
607697 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, CMT4B2
» CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA
» CHARCOT-MARIE-TOOTH DISEASE, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 4B2 (AUTOSOMAL RECESSIVE) |
604563 |
|
3508 |
| SEPT9 (SEPTIN 9) |
604061 |
AMYOTROPHY, HEREDITARY NEURALGIC
» BRACHIAL PLEXUS NEUROPATHY, HEREDITARY |
162100 |
|
1280 |
SCHILBACH-ROTT SYNDROME
» OCULAR HYPOTELORISM, SUBMUCOSAL CLEFT PALATE, AND HYPOSPADIAS
» BLEPHAROFACIOSKELETAL SYNDROME |
164220 |
|
1280 |
| SLC22A4 (SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 4; OCTN1) |
604190 |
RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO |
180300 |
|
700 |
| SLC37A4 (GLUCOSE-6-PHOSPHATE TRANSPORTER 1; G6PT1; GLUCOSE-6-PHOSPHATE TRANSLOCASE) |
602671 |
GLYCOGEN STORAGE DISEASE, TYPE 1B
» GSD TYPE 1B |
232220 |
|
800 |
| SLITRK1 (SLIT- AND NTRK-LIKE FAMILY, MEMBER 1) |
609678 |
GILLES DE LA TOURETTE SYNDROME
» TOURETTE SYNDROME
» CHRONIC MOTOR TICS, INCLUDED |
137580 |
|
756 |
| SPG20 (SPARTIN) |
607111 |
FAMILIAL SPASTIC PARAPLEGIA 20 (AUTOSOMAL RECESSIVE), SPG20
» TROYER SYNDROME
» SPASTIC PARAPARESIS, CHILDHOOD-ONSET, WITH DISTAL MUSCLE WASTING |
275900 |
|
1466 |
| SPTBN2 (SPECTRIN, BETA, NONERYTHROCYTIC, 2) |
604985 |
SPINOCEREBELLAR ATAXIA 5, SCA5 |
600224 |
|
2973 |
| SPTLC1 (SERINE
PALMITOYLTRANSFERASE, LONG-CHAIN BASE SUBUNIT 1) |
605712 |
NEUROPATHY,
HEREDITARY SENSORY AND AUTONOMIC, TYPE 1, HSAN1
» NEUROPATHY,
HEREDITARY SENSORY RADICULAR (AUTOSOMAL DOMINANT) |
162400 |
Whole Gene |
1466 |
| STRC (STEREOCILIN) |
606440 |
DEAFNESS, DFNB16
» DEAFNESS, (AUTOSOMAL RECESSIVE), NONSYNDROMIC SENSORINEURAL 16 |
603720 |
|
2700 |
| STS (STEROID SULFATASE; ARYLSULFATASE C; ARSC) |
300747 |
ICHTHYOSIS (X-LINKED)
» STEROID SULFATASE DEFICIENCY |
308100 |
|
400 |
| TARDBP (TAR DNA-BINDING PROTEIN) |
605078 |
AMYOTROPHIC LATERAL SCLEROSIS TYPE 10, ALS10 |
612069 |
|
745 |
| TCAP (TITIN-CAP) |
604488 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, LGMD2G |
601954 |
|
396 |
| CARDIOMYOPATHY, DILATED, TYPE 1N |
607487 |
|
396 |
| TECTA (TECTORIN, ALPHA) |
602574 |
DEAFNESS, DFNA12
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 12 |
601543 |
|
2700 |
DEAFNESS, DFNB21
» DEAFNESS, (AUTOSOMAL RECESSIVE), NONSYNDROMIC SENSORINEURAL 21 |
603629 |
|
2700 |
| TFR2 (TRANSFERRIN RECEPTOR 2) |
604720 |
HEMOCHROMATOSIS, TYPE 3, HFE3
» HEMOCHROMATOSIS DUE TO DEFECT IN TRANSFERRIN RECEPTOR 2 |
604250 |
|
1280 |
| TMC1 (TRANSMEMBRANE COCHLEAR-EXPRESSED GENE 1) |
606706 |
DEAFNESS, DFNA36
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 36 |
606705 |
|
1728 |
DEAFNESS, DFNB7
» DEAFNESS, (AUTOSOMAL RECESSIVE), NONSYNDROMIC SENSORINEURAL 7
» DEAFNESS, DFNB11
» DEAFNESS, (AUTOSOMAL RECESSIVE), NONSYNDROMIC SENSORINEURAL 11 |
600974 |
|
1728 |
| TMIE (TRANSMEMBRANE INNER EAR-EXPRESSED GENE) |
607237 |
DEAFNESS, DFNB6
» DEAFNESS, (AUTOSOMAL RECESSIVE), NONSYNDROMIC SENSORINEURAL 6 |
600965 |
|
483 |
| TRIM32 (TRIPARTITE MOTIF-CONTAINING PROTEIN 32) |
602290 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, LGMD2H
» MUSCULAR DYSTROPHY, HUTTERITE TYPE
» SARCOTUBULAR MYOPATHY |
254110 |
|
658 |
| BARDET-BIEDL SYNDROME TYPE 1, BBS1 |
209900 |
|
658 |
| TRIOBP (TRIO- AND F-ACTIN-BINDING PROTEIN) |
609761 |
DEAFNESS, DFNB28
» DEAFNESS, (AUTOSOMAL RECESSIVE), NONSYNDROMIC SENSORINEURAL 28 |
609823 |
|
2787 |
| TTBK2 (TAU TUBULIN KINASE 2) |
611695 |
SPINOCEREBELLAR ATAXIA 11, SCA11 |
604432 |
|
2253 |
| USH1C (HARMONIN) |
605242 |
USHER SYNDROME, TYPE 1C, USH1C |
276904 |
|
1728 |
DEAFNESS, DFNB18
» DEAFNESS, (AUTOSOMAL RECESSIVE), NONSYNDROMIC SENSORINEURAL 18 |
602092 |
|
1728 |
| USH2A (USHERIN) |
608400 |
USHER SYNDROME, TYPE 2A, USH2A |
276901 |
Whole Gene |
7134 |
| RETINITIS PIGMENTOSA TYPE 39, RP39 |
608400 |
Whole Gene |
7134 |
| VAPB (VESICLE-ASSOCIATED MEMBRANE PROTEIN-ASSOCIATED PROTEIN B; VAMP-ASSOCIATED PROTEIN) |
605704 |
AMYOTROPHIC LATERAL SCLEROSIS TYPE 8, ALS8 |
608627 |
|
658 |
| XPA |
611153 |
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A |
278700 |
|
1600 |
| XPC |
278720 |
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C |
278720 |
|
2000 |
| ZFYVE26 (ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 26; SPASTIZIN) |
612012 |
FAMILIAL SPASTIC PARAPLEGIA 15 (AUTOSOMAL RECESSIVE), SPG15
» SPASTIC PARAPLEGIA AND RETINAL DEGENERATION |
270700 |
|
3935 |
