| Disease |
Disease OMIM |
Gene |
Gene OMIM |
Comment |
| C3 DEFICIENCY (AUTOSOMAL RECESSIVE) |
|
See COMPLEMENT COMPONENT 3 DEFICIENCY (AUTOSOMAL RECESSIVE) |
|
|
| CACA |
|
See CATARACT, CRYSTALLINE ACULEIFORM OR FROSTED |
|
|
| CACT DEFICIENCY |
|
See CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY |
|
|
| CADASIL |
. |
See CEREBRAL AUTOSOMAL DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKO-ENCEPHALOPATHY |
|
|
CAMPOMELIC DYSPLASIA
» ACAMPOMELIC CAMPOMELIC DYSPLASIA |
114290 |
SOX9 (SRY-BOX 9) |
608160 |
|
CAMURATI-ENGELMANN
DISEASE
» DIAPHYSEAL DYSPLASIA 1 |
131300 |
TGFB1 (TGFB,
TRANSFORMING GROWTH FACTOR, BETA-1)
|
190180 |
Whole Gene or Exon 24 |
| CANALE-SMITH SYNDROME |
|
See AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, ALPS |
|
|
CANAVAN DISEASE
» CANAVAN-VAN BOGAERT-BERTRAND DISEASE
» ASPARTOACYLASE DEFICIENCY
» SPONGY DEGENERATION OF CENTRAL NERVOUS SYSTEM
|
271900 |
ASPA (ASPARTOACYLASE) |
608034 |
Whole Gene and Deletions-Duplications
» (See
also Molecular Screening Tests) |
| CANAVAN-VAN BOGAERT-BERTRAND DISEASE |
|
See CANAVAN DISEASE |
|
|
| CANCER (SOMATIC MUTATIOS) |
. |
CDH1 (CADHERIN 1, UVOMORULIN)
|
192090 |
Whole Gene or Deletion-Duplication |
CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY, HYPERAMMONEMIA DUE TO
» CPS1 DEFICIENCY |
237300 |
CPS1 (CARBAMOYL PHOSPHATE SYNTHETASE 1) |
608307 |
|
| CARBONIC
ANHYDRASE 2 DEFICIENCY |
|
See OSTEOPETROSIS
WITH RENAL TUBULAR ACIDOSIS |
|
|
| CARDIAC MYXOMA |
255960 |
PRKAR1A |
188830 |
|
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY
» CYTOCHROME c OXIDASE DEFICIENCY, FATAL INFANTILE, WITH CARDIOENCEPHALOMYOPATHY |
604377 |
SCO2 |
604272 |
|
CARDIOFACIOCUTANEOUS
SYNDROME, CFC
» CFC
SYNDROME |
115150 |
BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1, RAFB1) |
164757 |
|
| KRAS (V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG, KRAS2, KRAS1) |
190070 |
|
MAP2K1 (MITOGEN-ACTIVATED PROTEIN KINASE KINASE 1, MEK1) |
176872 |
Whole Gene or Exons 2 and 3 |
MAP2K2 (MITOGEN-ACTIVATED PROTEIN KINASE KINASE 2, MEK2) |
601263 |
Whole Gene or Exons 2 and 3 (6% of CFC cases) |
| CARDIOMEGALIA GLYCOGENICA DIFFUSA |
|
See GLYCOGEN STORAGE DISEASE, TYPE 2 |
|
|
| CARDIOMYOPATHY, DILATED |
|
CTF1 (CARDIOTROPHIN 1) |
600435 |
|
| CARDIOMYOPATHY, DILATED, TYPE 1AA |
612158 |
ACTN2 (ACTININ, ALPHA-2) |
102573 |
|
CARDIOMYOPATHY, DILATED, TYPE 1C
» CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION |
601493 |
LDB3 (LIM DOMAIN-BINDING 3, ZASP, CYPHER) |
605906 |
|
| CARDIOMYOPATHY,
DILATED, 1G, CMD1G |
604145 |
TTN (TITIN,
CONNECTIN ) |
188840 |
Exons
212-213 |
| CARDIOMYOPATHY, DILATED, TYPE 1M |
607482 |
CSRP3 (CYSTEINE- AND GLYCINE-RICH PROTEIN 3; LIM DOMAIN PROTEIN, CARDIAC) |
600824 |
|
| CARDIOMYOPATHY, DILATED, TYPE 1N |
607487 |
TCAP (TITIN-CAP) |
604488 |
» See also Next Generation Sequencing Platforms |
| CARDIOMYOPATHY, DILATED, TYPE 1O |
608569 |
ABCC9 (ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 9; SULFONYLUREA RECEPTOR 2; SUR2) |
601439 |
|
| CARDIOMYOPATHY, DILATED, TYPE 1P |
609909 |
PLN (PHOSPHOLAMBAN) |
172405 |
|
| CARDIOMYOPATHY, DILATED, TYPE 1S |
160760 |
MYH7 (MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA) |
160760 |
See also MYH7, TNNT2, MYBPC3, TNNI3, TPM1, ACTC, MYL3, MYL2, LAMP2, PRKAG2, GLA, CAV3, MTTG, MTTI, MTTK, TTR, TNNC1 |
| CARDIOMYOPATHY, DILATED, TYPE 1W |
611407 |
VCL (VINCULIN, METAVINCULIN) |
193065 |
|
| CARDIOMYOPATHY, DILATED, TYPE 1X |
611615 |
FKTN (FUKUTIN; FCMD) |
607440 |
|
| CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION |
|
See CARDIOMYOPATHY, DILATED, TYPE 1C |
|
|
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA
» PALMOPLANTAR KERATODERMA WITH LEFT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR
» CARVAJAL SYNDROME |
605676 |
DSP (DESMOPLAKIN) |
125647 |
See also PKP2, DSP, DSG2, DSC2 PANEL |
| CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE 1 |
|
See HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 8, CMH8 |
|
|
| CARDIOMYOPATHY,
FAMILIAL HYPERTROPHIC, TYPE 9 |
188840 |
TTN (TITIN,
CONNECTIN ) |
188840 |
Exons
212-213 |
| CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, TYPE 12 |
612124 |
CSRP3 (CYSTEINE- AND GLYCINE-RICH PROTEIN 3; LIM DOMAIN PROTEIN, CARDIAC) |
600824 |
|
| CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, WITH WOLFF-PARKINSON-WHITE SYNDROME |
600858 |
PRKAG2 (PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-2, AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2
AMPK-GAMMA-2) |
602743 |
|
| CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 |
115210 |
TNNI3 (TROPONIN I, CARDIAC) |
191044 |
See also MYH7, TNNT2, MYBPC3, TNNI3, TPM1, ACTC, MYL3, MYL2, LAMP2, PRKAG2, GLA, CAV3, MTTG, MTTI, MTTK, TTR, TNNC1 |
| CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE 2 |
|
See HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 10, CMH10 |
|
|
| CARMI
SYNDROME |
|
See EPIDERMOLYSIS
BULLOSA WITH PYLORIC ATRESIA |
|
|
CARNEY COMPLEX, TYPE 1
» PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE |
160980 |
PRKAR1A |
188830 |
|
| CARNEY COMPLEX VARIANT ASSOCIATED WITH DISTAL ARTHROGRYPOSIS |
|
See TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME |
|
|
CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
» CACT DEFICIENCY |
212138 |
SLC25A20 (SOLUTE CARRIER FAMILY 25, MEMBER 20, CARNITINE-ACYLCARNITINE TRANSLOCASE,
CARNITINE-ACYLCARNITINE CARRIER) |
212138 |
. |
| CARNITINE DEFICIENCY, PRIMARY |
|
See CARNITINE DEFICIENCY, SYSTEMIC PRIMARY |
|
|
| CARNITINE DEFICIENCY, SYSTEMIC, DUE TO DEFECT IN RENAL REABSORPTION OF CARNITINE |
|
See CARNITINE DEFICIENCY, SYSTEMIC PRIMARY |
|
|
CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
» SYSTEMIC CARNITINE DEFICIENCY
» CARNITINE DEFICIENCY, SYSTEMIC, DUE TO DEFECT IN RENAL REABSORPTION OF CARNITINE
» CARNITINE DEFICIENCY, PRIMARY
» CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF
» CARNITINE UPTAKE DEFECT |
212140 |
SLC22A5 (SOLUTE CARRIER FAMILY 22, ORGANIC CATION TRANSPORTER, MEMBER 5, OCTN2) |
603377 |
. |
CARNITINE PALMITOYLTRANSFERASE 1A DEFICIENCY
» CPT1 DEFICIENCY |
255120 |
CPT1A (CARNITINE PALMITOYLTRANSFERASE 1, LIVER, CPT1) |
600528 |
. |
| CARNITINE PALMITOYLTRANSFERASE 2 (CPT2) DEFICIENCY, ADULT-ONSET |
|
See CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LATE-ONSET |
|
|
| CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, HEPATOCARDIOMUSCULAR |
|
See CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, INFANTILE |
|
|
CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, INFANTILE
» CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY WITH HYPOKETOTIC HYPOGLYCEMIA
» CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, HEPATOCARDIOMUSCULAR
» CPT2 DEFICIENCY, HEPATIC |
600649 |
CPT2 (CARNITINE PALMITOYLTRANSFERASE 2, LIVER, CPT2) |
600650 |
. |
CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LATE-ONSET
» CARNITINE PALMITOYLTRANSFERASE 2 (CPT2) DEFICIENCY, MYOPATHIC
» CARNITINE PALMITOYLTRANSFERASE 2 (CPT2) DEFICIENCY, ADULT-ONSET
» CPT2 DEFICIENCY, MYOPATHIC
» CPT2 DEFICIENCY, LATE-ONSET |
255110 |
CPT2 (CARNITINE PALMITOYLTRANSFERASE 2, LIVER, CPT2) |
600650 |
. |
CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LETHAL NEONATAL
» CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, NEONATAL
» CPT2 DEFICIENCY, LETHAL NEONATAL |
608836 |
CPT2 (CARNITINE PALMITOYLTRANSFERASE 2, LIVER, CPT2) |
600650 |
. |
| CARNITINE PALMITOYLTRANSFERASE 2 (CPT2) DEFICIENCY, MYOPATHIC |
|
See CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LATE-ONSET |
|
|
| CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, NEONATAL |
|
See CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LETHAL NEONATAL |
|
|
| CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY WITH HYPOKETOTIC HYPOGLYCEMIA |
|
See CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, INFANTILE |
|
|
| CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF |
|
See CARNITINE DEFICIENCY, SYSTEMIC PRIMARY |
|
|
| CARNITINE UPTAKE DEFECT |
|
See CARNITINE DEFICIENCY, SYSTEMIC PRIMARY |
|
|
| CAROLI DISEASE |
|
See POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE, ARPKD |
|
|
CARTILAGE-HAIR HYPOPLASIA
» METAPHYSEAL CHONDRODYSPLASIA, MCKUSICK TYPE |
250250 |
RMRP (MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF) |
157660 |
|
| CARTILAGE-HAIR HYPOPLASIA-LIKE SKELETAL DYSPLASIA WITHOUT HYPOTRICHOSIS OR IMMUNODEFICIENCY |
|
See METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS |
|
|
| CARTILAGE-HAIR HYPOPLASIA VARIANT |
|
See METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS |
|
|
| CASPASE
8 DEFICIENCY |
607271 |
CASP8 (CASPASE
8, FLICE, MCH5) |
601763 |
|
| CATALASE
DEFICIENCY |
|
See ACATALASEMIA |
|
|
| CATARACT, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY |
. |
PAX6 (PAIRED
BOX GENE 6) |
607108 |
Whole
Gene and Deletion Analysis (MLPA) |
| CATARACT-DENTAL SYNDROME |
|
See NANCE-HORAN SYNDROME |
|
|
| CATARACT, X-LINKED, WITH HUTCHINSONIAN TEETH |
|
See NANCE-HORAN SYNDROME |
|
|
| CATCH22 |
. |
See DIGEORGE
SYNDROME, DGS |
. |
|
| CATLIN MARKS |
|
See PARIETAL FORAMINA, TYPE 1 |
|
|
| |
See PARIETAL FORAMINA, TYPE 2 |
|
|
| CARVAJAL SYNDROME |
|
See CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA |
|
|
| CAVERNOUS ANGIOMA, FAMILIAL, TYPE 1 |
|
See CEREBRAL CAVERNOUS MALFORMATIONS, TYPE 1 |
|
|
| CAVERNOUS ANGIOMA, FAMILIAL, TYPE 2 |
|
See CEREBRAL CAVERNOUS MALFORMATIONS, TYPE 2 |
|
|
| CAVERNOUS ANGIOMA, FAMILIAL, TYPE 3 |
|
See CEREBRAL CAVERNOUS MALFORMATIONS, TYPE 3 |
|
|
| CBAVD |
. |
See CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS |
|
|
| CEREBELLAR ATAXIA (AUTOSOMAL DOMINANT), FGF14-RELATED |
|
See SPINOCEREBELLAR ATAXIA 27, SCA27 |
|
|
| CEREBELLAR
ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA |
|
See ATAXIA,
EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA |
|
|
| CEREBELLAR ATAXIA, PAROXYSMAL, ACETAZOLAMIDE-RESPONSIVE |
|
See EPISODIC ATAXIA, TYPE 2, EA2 |
|
|
| CEREBELLAR ATAXIA WITH NEURONAL MIGRATION DEFECT |
|
See POLYMICROGYRIA, BILATERAL FRONTOPARIETAL |
|
|
| CEREBELLAR HEMANGIOMA |
. |
VHL |
193300 |
Whole
Gene and Deletions-Duplications |
CEREBELLOPATHY, HEREDITARY PAROXYSMAL
ATAXIA |
|
See EPISODIC ATAXIA, TYPE 2, EA2 |
|
|
CEREBRAL AMYLOID ANGIOPATHY
» AMYLOIDOSIS, CEREBROARTERIAL
» AMYLOIDOSIS, TYPE 6
» HEREDITARY CEREBRAL HEMORRHAGE WITH AMYLOIDOSIS, HCHWA
» AMYLOIDOSIS, CEREBRAL AMYLOID ANGIOPATHY |
105150 |
APP |
104760 |
Whole Gene, Deletion-Duplication or Exons 16 and 17 harbouring the majority of mutations |
| CEREBRAL AUTOSOMAL DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, CADASIL |
125310 |
NOTCH3 |
600276 |
Whole Gene
|
| Exons
3 and 4 harboring the majority of mutations |
CEREBRAL CAVERNOUS MALFORMATIONS, TYPE 1
» CAVERNOUS ANGIOMA, FAMILIAL, TYPE 1
» HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, TYPE 1 |
116860 |
KRIT1 (KREV INTERACTION TRAPPED 1; CCM1) |
604214 |
|
CEREBRAL CAVERNOUS MALFORMATIONS, TYPE 2
» CAVERNOUS ANGIOMA, FAMILIAL, TYPE 2
» HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, TYPE 2 |
603284 |
CCM2 (MALCAVERNIN) |
607929 |
|
CEREBRAL CAVERNOUS MALFORMATIONS, TYPE 3
» CAVERNOUS ANGIOMA, FAMILIAL, TYPE 3
» HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, TYPE 3 |
603285 |
PDCD10 (PROGRAMMED CELL DEATH 10) |
609118 |
|
| CEREBRAL CHOLESTERINOSIS |
|
See CEREBROTENDINOUS XANTHOMATOSIS, CTX |
|
|
CEREBRAL GIGANTISM
» SOTOS SYNDROME |
117550 |
NSD1 |
606681 |
At
least 20mg DNA is needed |
| CEREBROHEPATORENAL SYNDROME |
|
See ZELLWEGER SYNDROME |
|
|
| CEREBROMUSCULAR DYSTROPHY, FUKUYAMA TYPE |
|
See FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY |
|
|
CEREBROTENDINOUS XANTHOMATOSIS, CTX
» CEREBRAL CHOLESTERINOSIS |
213700 |
CYP27A1 |
606530 |
|
| CEROID LIPOFUSCINOSIS, CLN |
|
CLN PANEL:
-
CLN1
- CLN2
-
CLN3
-
CLN5
-
CLN6
-
CLN7
-
CLN8
-
CLN10 |
|
|
CEROID LIPOFUCSINOSIS, CLN1
» SANTAVUORI DISEASE |
256730 |
PPT1 (PALMITOYL-PROTEIN THIOESTERASE) |
600722 |
|
CEROID LIPOFUCSINOSIS, CLN2
» JANSKY-BIELSCHOWSKY DISEASE |
204500 |
CLN2 (TRIPEPTIDYL PEPTIDASE I; TPP1) |
204500 |
Whole Gene or 2 Common Mutations: R208X and IVS5-1G>C |
CEROID LIPOFUCSINOSIS, CLN3
» VOGT-SPIELMEYER DISEASE
» BATTEN DISEASE |
204200 |
CLN3 |
607042 |
Whole Gene or Common 1kb Deletion |
CEROID
LIPOFUCSINOSIS, CLN5
» NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, FINNISH VARIANT |
256731 |
CLN5 |
608102 |
|
CEROID
LIPOFUCSINOSIS, CLN6
» CEROID LIPOFUCSINOSIS, NEURONAL, LATE-INFANTILE
|
601780 |
CLN6 |
606725 |
|
CEROID
LIPOFUCSINOSIS, CLN8
» CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT
» NORTHERN EPILEPSY
» EPILEPSY, PROGRESSIVE, WITH MENTAL RETARDATION |
610003 |
CLN8 |
607837 |
|
| CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT |
|
See CEROID
LIPOFUCSINOSIS, CLN8 |
|
|
| CEROID
LIPOFUCSINOSIS, NEURONAL, LATE-INFANTILE |
|
See CEROID
LIPOFUCSINOSIS, CLN6 |
|
|
| CETP DEFICIENCY |
|
See CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY |
|
|
| CFC
SYNDROME |
|
See CARDIOFACIOCUTANEOUS SYNDROME, CFC |
|
|
CHANARIN-DORFMAN DISEASE
» ICHTHYOTIC NEUTRAL LIPID STORAGE DISEASE
» NEUTRAL LIPID STORAGE DISEASE
» ICHTHYOSIFORM ERYTHRODERMA WITH LEUKOCYTE VACUOLATION
» TRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED LONG-CHAIN FATTY ACID OXIDATION |
275630 |
CGI58 (COMPARATIVE GENE IDENTIFICATION 58, ABHD5) |
604780 |
|
| CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS |
118300 |
PMP22 (PERIPHERAL MYELIN PROTEIN) |
601097 |
Whole Gene or
Duplication |
| CHARCOT-MARIE-TOOTH
DISEASE, AXONAL, TYPE 1D, CMT1D |
607678 |
EGR2 (EARLY
GROWTH RESPONSE 2) |
129010 |
|
| CHARCOT-MARIE-TOOTH
DISEASE, AXONAL, TYPE 2A, CMT2A |
118210 |
KIF1B (KINESIN
FAMILY MEMBER 1B)
|
605995 |
|
| MFN2 (MITOFUSIN
2) |
608507 |
|
| CHARCOT-MARIE-TOOTH
DISEASE, AXONAL, TYPE 2B, CMT2B |
600882 |
RAB7 (RAS-ASSOCIATED
PROTEIN RAB7)
|
602298 |
|
| CHARCOT-MARIE-TOOTH
DISEASE, AXONAL, TYPE 2B1, CMT2B1 |
605588 |
LMNA (LAMIN
A/C) |
150330 |
|
| CHARCOT-MARIE-TOOTH
DISEASE, AXONAL, TYPE 2D, CMT2D |
601472 |
GARS (GLYCYL
T RNA SYNTHETASE) |
600287 |
|
| CHARCOT-MARIE-TOOTH
DISEASE, AXONAL, TYPE 2E, CMT2E |
607684 |
NEFL (NEUROFILAMENT
PROTEIN, LIGHT POLYPEPTIDE) |
162280 |
. |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I, CMT2I |
607677 |
MPZ
(MYELIN PROTEN ZERO, P0) |
159440 |
. |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J, CMT2J |
607736 |
MPZ
(MYELIN PROTEN ZERO, P0) |
159440 |
. |
| CHARCOT-MARIE-TOOTH
DISEASE, AXONAL, TYPE 2K, CMT2K |
607831 |
GDAP1 (GANGLIOSIDE-INDUCED
DIFFERENTIATION-ASSOCIATED PROTEIN 1) |
606598 |
|
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L, CMT2L |
608673 |
HSPB8 (HEAT-SHOCK 22-KD PROTEIN 8) |
608014 |
|
| CHARCOT-MARIE-TOOTH
DISEASE, AXONAL, WITH VOCAL CORD PARESIS (AUTOSOMAL RECESSIVE) |
607706 |
GDAP1 (GANGLIOSIDE-INDUCED
DIFFERENTIATION-ASSOCIATED PROTEIN 1) |
606598 |
|
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A, CMT1A
» HEREDITARY MOTOR AND SENSORY NEUROPATHY 1A, HMSN1A |
118220 |
PMP22 (PERIPHERAL MYELIN PROTEIN) |
601097 |
Whole Gene or
Duplication |
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B, CMT1B
» HEREDITARY MOTOR AND SENSORY NEUROPATHY 1B, HMSN1B |
118200 |
MPZ (MYELIN PROTEN ZERO, P0) |
159440 |
|
| CHARCOT-MARIE-TOOTH
DISEASE, DEMYELINATING, TYPE 1C, CMT1C, HMSN1C |
601098 |
LITAF (LIPOPOLYSACCHARIDE-INDUCED
TUMOR NECROSIS FACTOR-ALPHA FACTOR) |
603795 |
|
| CHARCOT-MARIE-TOOTH
DISEASE, DEMYELINATING, TYPE 1F, CMT1F |
607734 |
NEFL (NEUROFILAMENT
PROTEIN, LIGHT POLYPEPTIDE) |
162280 |
. |
| CHARCOT-MARIE-TOOTH
DISEASE, DEMYELINATING, TYPE 4A, CMT4A (AUTOSOMAL RECESSIVE) |
214400 |
GDAP1 (GANGLIOSIDE-INDUCED
DIFFERENTIATION-ASSOCIATED PROTEIN 1) |
606598 |
|
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4C, CMT4C (AUTOSOMAL RECESSIVE) |
601596 |
SH3TC2 (SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2) |
68206 |
|
CHARCOT-MARIE-TOOTH
DISEASE, DEMYELINATING, TYPE 4E, CMT4E
» CONGENITAL HYPOMYELINATING NEUROPATHY |
605253 |
EGR2 (EARLY
GROWTH RESPONSE 2) |
129010 |
|
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F, CMT4F
»DEJERINE-SOTTAS HYPERTROPHIC NEUROPATHY
» HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 3, HMSN3 |
145900 |
EGR2 (EARLY
GROWTH RESPONSE 2) |
129010 |
|
PRX (PERIAXIN) |
605725 |
|
| MPZ (MYELIN PROTEN ZERO, P0) |
159440 |
|
| PMP22 (PERIPHERAL MYELIN PROTEIN) |
601097 |
Whole Gene |
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D, CMTDID |
607791 |
MPZ
(MYELIN PROTEN ZERO, P0) |
159440 |
. |
| CHARCOT-MARIE-TOOTH
DISEASE, INTERMEDIATE A, CMTRIA (AUTOSOMAL RECESSIVE) |
608340 |
GDAP1 (GANGLIOSIDE-INDUCED
DIFFERENTIATION-ASSOCIATED PROTEIN 1) |
606598 |
|
| CHARCOT-MARIE-TOOTH DISEASE, INTERMEDIATE B, CMTDIB, (AUTOSOMAL DOMINANT) |
606482 |
DNM2 (DYNAMIN 2, DYN2) |
602378 |
|
| CHARCOT-MARIE-TOOTH DISEASE, SPINAL, TYPE 2A |
|
See NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE 2A |
|
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1
» CHARCOT-MARIE-TOOTH DISEASE WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 4B1 (AUTOSOMAL RECESSIVE) |
601382 |
MTMR2 (MYOTUBULARIN-RELATED PROTEIN 2) |
603557 |
|
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 |
SBF2 (SET-BINDING FACTOR 2; MYOTUBULARIN-RELATED 13; MTMR13) |
607697 |
Whole Gene or Exons 14, 23, 27, 32 |
| CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA |
|
See CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, CMT4B2 |
|
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, CMT4D
» NEUROPATHY, HEREDITARY MOTOR AND SENSORY, LOM TYPE (HMSNL) |
601455 |
NDRG1 (NMYC DOWNSTREAM-REGULATED GENE 1; PROTEIN REGULATED BY OXYGEN 1; PROXY1) |
605262 |
|
| CHARCOT-MARIE-TOOTH DISEASE WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 4B1 (AUTOSOMAL RECESSIVE) |
|
See CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1 |
|
|
| CHARCOT-MARIE-TOOTH DISEASE, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 4B2 (AUTOSOMAL RECESSIVE) |
|
See CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, CMT4B2 |
|
|
CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY (X-LINKED), CMTX
» HEREDITARY MOTOR AND SENSORY NEUROPATHY (X-LINKED) |
302800 |
GJB1 (CONNEXIN 32, CX32) |
304040 |
|
| CHARGE SYNDROME |
214800 |
CHD7 (CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 7) |
608892 |
|
| CHERRY RED SPOT--MYOCLONUS SYNDROME |
|
See NEURAMINIDASE DEFICIENCY |
|
|
CHERUBISM |
118400 |
SH3BP2 |
602104 |
Exon
9 |
CHILD SYNDROME
» CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
» ICHTHYOSIFORM ERYTHRODERMA, UNILATERAL, WITH IPSILATERAL MALFORMATIONS, ESPECIALLY ABSENCE DEFORMITY OF LIMBS
|
308050 |
NSDHL (NAD(P)H STEROID DEHYDROGENASE-LIKE PROTEIN) |
300275 |
|
| CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION |
|
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER |
|
|
CHOLESTASIS,
BENIGN RECURRENT INTRAHEPATIC, BRIC
» SUMMERSKILL SYNDROME |
243300
|
ABCB11 (ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 11) |
603201 |
|
ATP8B1 (FIC1)
|
602397 |
. |
| CHOLESTASIS, NEONATAL INTRAHEPATIC, CAUSED BY CITRIN DEFICIENCY |
|
See CITRULLINEMIA, TYPE 2, NEONATAL-ONSET |
|
|
CHOLESTASIS,
PROGRESSIVE FAMILIAL INTRAHEPATIC 1, PFIC1
» BYLER DISEASE |
211600
|
ABCB11 (ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 11) |
603201 |
|
ATP8B1 (FIC1)
|
602397 |
. |
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, PFIC3
» MDR3 DEFICIENCY
» CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, WITH ELEVATED SERUM GAMMA-GLUTAMYLTRANSFERASE |
602347 |
ABCB4 (ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 4; MULTIDRUG RESISTANCE 3; MDR3; P-GLYCOPROTEIN 3; PGY3) |
171060 |
|
| CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, WITH ELEVATED SERUM GAMMA-GLUTAMYLTRANSFERASE |
|
See CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, PFIC3 |
|
|
| CHOLESTERYL ESTER STORAGE DISEASE |
|
See WOLMAN DISEASE |
|
|
CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY
» CETP DEFICIENCY |
607322 |
CETP (CHOLESTERYL ESTER TRANSFER PROTEIN, LIPID TRANSFER PROTEIN 1) |
118470 |
|
CHONDRODYSPLASIA, GREBE TYPE
» ACHONDROGENESIS, BRAZILIAN TYPE
» ACROMESOMELIC DYSPLASIA, GREBE TYPE |
200700 |
GDF5 (GROWTH / DIFFERENTIATION FACTOR 5, CDMP1, LAP4) |
601146 |
|
| CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC |
|
See CHONDRODYSPLASIA PUNCTATA (X-LINKED RECESSIVE) |
|
|
CHONDRODYSPLASIA PUNCTATA (X-LINKED RECESSIVE)
» CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC |
302950 |
ARSE (ARYLSULFATASE E) |
300180 |
|
CHONDRODYSPLASIA PUNCTATA 2 (X-LINKED DOMINANT), CDPX2
» CONRADI-HUNERMANN SYNDROME
» HAPPLE SYNDROME |
302960 |
EBP (EMOPAMIL-BINDING PROTEIN, 3-@BETA-HYDROXYSTEROID-DELTA-8, DELTA-7 ISOMERASE) |
300205 |
|
| CHONDRODYSTROPHIA CALCIFICANS PUNCTATA |
|
See RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 |
|
|
| CHONDRODYSTROPHIC MYOTONIA |
|
See SCHWARTZ-JAMPEL SYNDROME, TYPE 1 |
|
|
| CHOREA,
HEREDITARY BENIGN |
118700 |
TITF1 (THYROID
NUCLEAR FACTOR, NKX2A)
|
600635 |
. |
| CHOREOATHETOSIS, NONKINESIGENIC |
|
See PAROXYSMAL NONKINESIGENIC DYSKINESIA |
|
|
| CHOROIDAL SCLEROSIS |
|
See CHOROIDEREMIA |
|
|
CHOROIDEREMIA
» TAPETOCHOROIDAL DYSTROPHY, PROGRESSIVE
» CHOROIDAL SCLEROSIS |
303100 |
CHM (REP1, RAB ESCORT PROTEIN 1, RAB GERANYLGERANYL TRANSFERASE) |
300390 |
|
| CHOROIDORETINAL DEGENERATION WITH RETINAL REFLEX IN HETEROZYGOUS WOMEN |
|
See RETINITIS PIGMENTOSA 3, RP3 |
|
|
| CHRONIC GRANULOMATOUS DISEASE (AUTOSOMAL RECESSIVE) CYTOCHROME-b-NEGATIVE FORM |
233690 |
CYBA (p22 PHOX) |
233690 |
|
| CHRONIC GRANULOMATOUS DISEASE (AUTOSOMAL RECESSIVE) CYTOCHROME-b-POSITIVE FORM TYPE 1 |
233700 |
NCF1 (p47 PHOX) |
233700 |
|
| CHRONIC GRANULOMATOUS DISEASE (AUTOSOMAL RECESSIVE) CYTOCHROME-b-POSITIVE FORM TYPE 2 |
233710 |
NCF2 (p67 PHOX) |
233710 |
|
| CHRONIC GRANULOMATOUS DISEASE (X-LINKED) |
306400 |
CYBB (p91 PHOX) |
306400 |
|
| CHUVASH POLYCYTHEMIA |
263400 |
VHL |
193300 |
Whole
Gene and Deletions-Duplications |
CINCA SYNDROME
» MULTISYSTEM INFLAMMATORY DISEASE, NEONATAL ONSET, NOMID |
607115 |
CIAS1 (CRYOPYRIN) |
606416 |
|
| CIRRHOSIS DUE TO LIVER PHOSPHORYLASE KINASE DEFICIENCY |
172471 |
PHKG2 (PHOSPHORYLASE KINASE, TESTIS/LIVER, GAMMA-2) |
172471 |
|
| CITRULLINURIA |
|
See CITRULLINEMIA, CLASSIC |
|
|
CITRULLINEMIA, CLASSIC
» CITRULLINEMIA, TYPE 1
» CITRULLINURIA
» ARGININOSUCCINATE SYNTHETASE DEFICIENCY |
215700 |
ASS (ARGININOSUCCINATE SYNTHETASE) |
603470 |
|
| CITRULLINEMIA, TYPE 1 |
|
See CITRULLINEMIA, CLASSIC |
|
|
| CITRULLINEMIA, TYPE 2, ADULT-ONSET |
603471 |
SLC25A13 (SOLUTE CARRIER FAMILY 25, MEMBER 13; CITRIN) |
603859 |
|
CITRULLINEMIA, TYPE 2, NEONATAL-ONSET
» CHOLESTASIS, NEONATAL INTRAHEPATIC, CAUSED BY CITRIN DEFICIENCY |
605814 |
SLC25A13 (SOLUTE CARRIER FAMILY 25, MEMBER 13; CITRIN) |
603859 |
|
| CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, TYPE 5 |
|
See OROFACIAL CLEFT, TYPE 5 |
|
|
| CLEFT LIP WITH OR WITHOUT CLEFT PALATE, WITH GASTRIC CANCER, FAMILIAL DIFFUSE |
192090 |
CDH1 (CADHERIN 1, UVOMORULIN)
|
192090 |
Whole Gene or Deletion-Duplication |
CLEIDOCRANIAL
DYSPLASIA, CCD |
119600 |
RUNX2 (CBFA 1) |
600211 |
. |
CLOUSTON SYNDROME
» HYDROTIC ECTODERMAL DYSPLASIA, ED2
» ECTODERMAL DYSPLASIA, CLOUSTON SYNDROME |
129500 |
GJB6 (CONNEXIN 30, CX30) |
604418 |
Whole Gene |
| COAGULATION FACTOR 11 DEFICIENCY |
|
See PTA DEFICIENCY |
|
|
| COATS DISEASE |
300216 |
NDP (NORRIN) |
310600 |
|
COCKAYNE SYNDROME, TYPE 1
» COCKAYNE SYNDROME, TYPE A |
216400 |
ERCC8 (EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8; CSA) |
609412 |
|
COCKAYNE
SYNDROME, TYPE 2
» COCKAYNE SYNDROME, TYPE B |
133540 |
ERCC6(EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; CSB)
|
133540 |
|
| COCKAYNE
SYNDROME, TYPE A |
|
See COCKAYNE
SYNDROME, TYPE 1 |
|
|
| COCKAYNE
SYNDROME, TYPE B |
|
See COCKAYNE
SYNDROME, TYPE 2 |
|
|
| COCKAYNE-TOURAINE
TYPE EPIDERMOLYSIS BULLOSA |
|
See EPIDERMOLYSIS
BULLOSA OF HANDS AND FEET |
|
|
| COENZYME Q10 DEFICIENCY |
607426 |
COQ2 (COQ2, S. CEREVISIAE, HOMOLOG OF; PARAHYDROXYBENZOATE-POLYPRENYLTRANSFERASE, MITOCHONDRIAL) |
609825 |
|
| PDSS1 (PRENYL DIPHOSPHATE SYNTHASE, SUBUNIT 1) |
607429 |
|
| PDSS2 (PRENYL DIPHOSPHATE SYNTHASE, SUBUNIT 2) |
610564 |
|
| COFFIN-LOWRY SYNDROME, CLS |
303600 |
RSK2 (RPS6KA3) |
300075 |
|
| COHEN
SYNDROME, COH1 |
216550 |
COH1 |
607817 |
Whole Gene or Exon
23, including the “Finnish mutation” (c.3348-3349delCT) |
COLD URTICARIA, FCU
» FAMILIAL COLD AUTOINFLAMMATORY SYNDROME |
120100 |
CIAS1 (CRYOPYRIN) |
606416 |
|
COLLODION FETUS
» LAMELLAR ICHTHYOSIS |
242300 |
TGM1 (TRANSGLUTAMINASE) |
190195 |
|
| COLON, ADENOMATOUS POLYPOSIS |
. |
See POLYPOSIS COLI, ADENOMATOUS |
|
|
| COLORECTAL ADENOMATOUS POLYPOSIS (AUTOSOMAL RECESSIVE) |
608456 |
MYH (MUTYH, MUTY, E. COLI, HOMOLOG OF) |
604933 |
Whole Gene |
COLORECTAL
CANCER, HEREDITARY NONPOLYPOSIS, HNPCC, TYPE 1
» LYNCH
CANCER FAMILY SYNDROME, TYPE 1 |
114500 |
MLH1 |
120436 |
Whole
Gene and MLPA |
| MSH2 |
120435 |
Whole
Gene and MLPA |
| MSH6 |
600678 |
Whole
Gene and MLPA |
| MLH1, MSH2 and MSH6 |
|
3 Genes (Whole Gene and MLPA) |
COLORECTAL
CANCER, HEREDITARY NONPOLYPOSIS, HNPCC, TYPE 2
» LYNCH
CANCER FAMILY SYNDROME, TYPE 2 |
114400 |
MLH1 |
120436 |
Whole
Gene and MLPA |
| MSH2 |
120435 |
Whole
Gene and MLPA |
| MSH6 |
600678 |
Whole
Gene and MLPA |
| MLH1, MSH2 and MSH6 |
|
3 Genes (Whole Gene and MLPA) |
| PMS2 |
600259 |
|
| COLORECTAL
CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6, HNPCC6 |
190182 |
TGFBR2 (TRANSFORMING
GROWTH FACTOR-BETA RECEPTOR, TYPE 2) |
190182 |
. |
| COLORECTAL CANCER, SOMATIC |
114500 |
AXIN2 (AXIS INHIBITOR 2, CONDUCTIN) |
604433 |
|
| BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1, RAFB1) |
164757 |
|
| COMBINED
DEFICIENCY OF FACTOR H AND FACTOR H-LIKE 1 |
|
See HEMOLYTIC-UREMIC
SYNDROME, HUS |
|
|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, COXPD3
» ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS |
610505 |
TSFM (Ts TRANSLATION ELONGATION FACTOR, MITOCHONDRIAL) |
604723 |
|
| COMMON VARIABLE HYPOGAMMAGLOBULINEMIA |
|
See COMMON VARIABLE IMMUNODEFICIENCY |
|
|
COMMON VARIABLE IMMUNODEFICIENCY
» COMMON VARIABLE HYPOGAMMAGLOBULINEMIA
» HYPOGAMMAGLOBULINEMIA, ACQUIRED
» IMMUNOGLOBULIN DEFICIENCY, LATE-ONSET |
240500 |
TNFRSF13 (TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 13B, TRANSMEMBRANE ACTIVATOR AND CAML INTERACTOR, TACI1) |
604907 |
|
COMPLEMENT COMPONENT 3 DEFICIENCY (AUTOSOMAL RECESSIVE)
» C3 DEFICIENCY (AUTOSOMAL RECESSIVE) |
120700 |
C3 (COMPLEMENT COMPONENT 3) |
120700 |
|
| COMPLEMENT FACTOR 1 DEFICIENCY |
217030 |
CFI (I FACTOR, COMPLEMENT COMPONENT 3 INACTIVATOR) |
217030 |
|
| COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF |
|
See CYTOCHROME c OXIDASE DEFICIENCY |
|
|
| COMPLEX 2, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF |
|
See CYTOCHROME c OXIDASE DEFICIENCY |
|
|
| COMPLEX 3, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF |
|
See CYTOCHROME c OXIDASE DEFICIENCY |
|
|
| COMPLEX 4, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF |
|
See CYTOCHROME c OXIDASE DEFICIENCY |
|
|
| CONE DYSTROPHY WITH NIGHT BLINDNESS AND SUPERNORMAL ROD RESPONSES, KCNV2-RELATED |
|
See RETINAL CONE DYSTROPHY, TYPE 3B |
|
|
| CONE-ROD DEGENERATION (X-LINKED) |
|
See RETINITIS PIGMENTOSA 15, RP15 |
|
|
CONE-ROD DYSTROPHY, (X-LINKED) TYPE 1, CORDX1
» ACHROMATOPSIA, INCOMPLETE (X-LINKED) |
304020 |
RPGR (RETINITIS PIGMENTOSA GTPase REGULATOR) |
312610 |
Exons 1-15 and ORF15 |
| CONE-ROD DYSTROPHY, TYPE 6, CORD6 |
601777 |
GUCY2D (GUANYLATE CYCLASE 2D, MEMBRANE) |
600179 |
|
| CONE-ROD DYSTROPHY, TYPE 9, CORD9 |
608194 |
RPGRIP1 (RETINITIS PIGMENTOSA GTPase REGULATOR-INTERACTING PROTEIN, RPGR-INTERACTING PROTEIN) |
605446 |
|
| CONGENITAL ANALGESIA (AUTOSOMAL RECESSIVE) |
|
See INDIFFERENCE TO PAIN, CONGENITAL (AUTOSOMAL RECESSIVE) |
|
|
| CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, CCFDN |
604168 |
CTDP1 (C-TERMINAL DOMAIN OF RNA POLYMERASE II SUBUNIT A, PHOSPHATASE OF, SUBUNIT 1; TRANSCRIPTION FACTOR IIF-ASSOCIATING CTD PHOSPHATASE 1; FCP1) |
604927 |
1 Mutation: IVS6, C-T, +389 |
CONGENITAL
CENTRAL HYPOVENTILATION SYNDROME
» ONDINE CURSE
» ONDINE-HIRSCHSPRUNG DISEASE
» HADDAD SYNDROME |
209880 |
PHOX2B |
603851 |
.
. |
| CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, CBAVD |
277180 |
CFTR |
602421 |
Whole Gene or
Mutations Kit or MLPA |
| CONGENITAL
HEART DISEASE (X-LINKED) |
. |
ZIC3 |
300265 |
. |
| CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS |
|
See CHILD SYNDROME |
|
|
| CONGENITAL
HYPOMYELINATING NEUROPATHY |
|
See CHARCOT-MARIE-TOOTH
DISEASE, DEMYELINATING, TYPE 4E, CMT4E |
|
|
| CONGENITAL
LIPOMATOSIS OF PANCREAS |
|
See SHWACHMAN-DIAMOND
SYNDROME, SDS |
|
|
| CONGENITAL MYASTHENIC SYNDROME, TYPE 1A |
|
See MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA |
|
|
| CONGENITAL MYASTHENIC SYNDROME, TYPE 1B |
|
See MYASTHENIA, LIMB-GIRDLE, FAMILIAL |
|
|
| CONGENITAL MYASTHENIC SYNDROME, TYPE 1C |
|
See ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY |
|
|
| CONGENITAL
NEUTROPENIA |
|
See NEUTROPENIA,
SEVERE CONGENITAL, SCN |
|
|
CONOTRUNCAL
ANOMALY FACE SYNDROME
» DOUBLE-OUTLET
RIGHT VENTRICLE
» TRUNCUS ARTERIOSUS COMMUNIS |
217095 |
TBX1 (T-BOX
1) |
602054 |
|
| CONRADI-HUNERMANN SYNDROME |
|
See CHONDRODYSPLASIA PUNCTATA 2 (X-LINKED DOMINANT), CDPX2 |
|
|
| CONTINUOUS
MUSCLE FIBER ACTIVITY, HEREDITARY |
|
See EPISODIC
ATAXIA, TYPE 1, EA1 |
|
|
CONTRACTURAL CONGENITAL ARACHNODACTYLY, CCA
» BEALS SYNDROME
|
121050 |
FBN2 (FIBRILLIN 2) |
121050 |
15
exons (exons 15, 22 -33 , 35-36) |
| CONVULSIONS, BENIGN FAMILIAL NEONATAL, TYPE 1 |
|
See EPILEPSY, BENIGN NEONATAL, TYPE 1 |
|
|
| CONVULSIONS, BENIGN FAMILIAL NEONATAL, TYPE 2 |
|
See EPILEPSY, BENIGN NEONATAL, TYPE 2 |
|
|
| CONVULSIONS, BENIGN FAMILIAL NEONATAL, WITH MYOKYMIA |
|
See MYOKYMIA WITH NEONATAL EPILEPSY |
|
|
COPROPORPHYRIA
» COPROPORPHYRINOGEN OXIDASE DEFICIENCY
» HARDEROPORPHYRINURIA |
121300 |
CPO (COPROPORPHYRINOGEN OXIDASE) |
121300 |
|
| COPROPORPHYRINOGEN OXIDASE DEFICIENCY |
|
See COPROPORPHYRIA |
|
|
| CORI DISEASE |
|
See GLYCOGEN STORAGE DISEASE, TYPE 3 |
|
|
| CORNEAL
DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 PPCD1 |
122000 |
VSX1 (VISUAL
|