ADA (ADENOSINE DEAMINASE, ADENOSINE AMINOHYDROLASE)

SEVERE COMBINED IMMUNODEFICIENCY, (AUTOSOMAL RECESSIVE), T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY, SCID

AICDA (ACTIVATION-INDUCED CYTIDINE DEAMINASE, AID)

IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2
» HYPER-IgM SYNDROME 2

ALX4 (ARISTALESS-LIKE 4, MOUSE, HOMOLOG OF)

PARIETAL FORAMINA, TYPE 2
» FORAMINA PARIETALIA PERMAGNA
» CATLIN MARKS

ANG (ANGIOGENIN, RNASE5)

ATXN8OS (ATAXIN 8 OPPOSITE STRAND, SCA8)

ATXN10 (SCA10)

BCKDHA (BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE)

MAPLE SYRUP URINE DISEASE
» BRANCHED-CHAIN KETOACIDURIA
» BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE DEFICIENCY
» KETO ACID DECARBOXYLASE DEFICIENCY
» LIPOAMIDE DEHYDROGENASE DEFICIENCY, LACTIC ACIDOSIS DUE TO

BMPR1A (BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE 1A, ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 3, ACVRLK3)

COWDEN DISEASE 
» LHERMITTE-DUCLOS DISEASE 

CD3D (CD3 ANTIGEN, DELTA SUBUNIT, T-CELL ANTIGEN RECEPTOR COMPLEX, DELTA SUBUNIT OF T3)

608971

CD3E (CD3 ANTIGEN, EPSILON SUBUNIT, T-CELL ANTIGEN RECEPTOR COMPLEX, EPSILON SUBUNIT OF T3)

CD40 (CD40 ANTIGEN, B CELL-ASSOCIATED MOLECULE CD40 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 5, TNFRSF5)

IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3
» HYPER-IgM SYNDROME 3

CDH1 (CADHERIN 1, UVOMORULIN)

CDKN1C (CYCLIN-DEPENDENT KINASE INHIBITOR 1C, p57-KIP2)

BECKWITH-WIEDEMANN SYNDROME, BWS
»  EXOMPHALOS-MACROGLOSSIA-GIGANTISM SYNDROME

CHRNA4 (CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 4, ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-4 SUBUNIT)

TOBACCO ADDICTION, SUSCEPTIBILITY TO
» NICOTINE DEPENDENCE, SUSCEPTIBILITY TO

CLDN16 (CLAUDIN 16, PARACELLIN 1)

HYPOMAGNESEMIA, PRIMARY
» MAGNESIUM, DEFECT IN RENAL TUBULAR TRANSPORT OF

248250

DCLRE1C (DNA CROSS-LINK REPAIR PROTEIN 1C, ARTEMIS)

SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION, SCID
» SEVERE COMBINED IMMUNODEFICIENCY (AUTOSOMAL RECESSIVE), T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH SENSITIVITY TO IONIZING RADIATION
» SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE

OMENN SYNDROME
» RETICULOENDOTHELIOSIS, FAMILIAL, WITH EOSINOPHILIA
» SEVERE COMBINED IMMUNODEFICIENCY WITH HYPEREOSINOPHILIA

EMX2 (EMPTY SPIRACLES, DROSOPHILA, 2, HOMOLOG OF)

ENG (ENDOGLIN)

TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER
» OSLER-RENDU-WEBER DISEASE
» ORW DISEASE

EPM2A (LAFORIN)

MYOCLONIC EPILEPSY OF LAFORA
» LAFORA DISEASE
» EPILEPSY, PROGRESSIVE MYOCLONIC TYPE 2

FGF14 (FIBROBLAST GROWTH FACTOR 14)

SPINOCEREBELLAR ATAXIA 27, SCA27
» CEREBELLAR ATAXIA (AUTOSOMAL DOMINANT), FGF14-RELATED

GABRG2 (GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-2)

GRN (GRANULIN, PROGRANULIN,
EPITHELIN)

FRONTOTEMPORAL DEMENTIA, UBIQUITIN-POSITIVE
» DEMENTIA, HEREDITARY DYSPHASIC DISINHIBITION

CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY
» APPARENT MINERALOCORTICOID EXCESS
» 11-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE 2

IFNGR1 (INTERFERON, GAMMA, RECEPTOR 1, ANTIVIRAL PROTEIN, TYPE 2)

ATYPICAL MYCOBACTERIOSIS, FAMILIAL
» BCG AND SALMONELLA INFECTION, DISSEMINATED

IFNGR2 (INTERFERON, GAMMA, RECEPTOR 2)

ATYPICAL MYCOBACTERIOSIS, FAMILIAL
» BCG AND SALMONELLA INFECTION, DISSEMINATED

IFNGR1 and IFNGR2

ATYPICAL MYCOBACTERIOSIS, FAMILIAL
» BCG AND SALMONELLA INFECTION, DISSEMINATED

601495

IL2RG (INTERLEUKIN 2 RECEPTOR, GAMMA)

IL7R (INTERLEUKIN 7 RECEPTOR)

KCNQ2 (POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 2)

EPILEPSY, BENIGN NEONATAL, TYPE 1
» CONVULSIONS, BENIGN FAMILIAL NEONATAL, TYPE 1

MYOKYMIA WITH NEONATAL EPILEPSY
» EPILEPSY, BENIGN NEONATAL, WITH MYOKYMIA
» CONVULSIONS, BENIGN FAMILIAL NEONATAL, WITH MYOKYMIA
» BFNC/MYOKYMIA SYNDROME

LHCGR (LUTEINIZING HORMONE / CHORIOGONADOTROPIN RECEPTOR, LUTROPIN-CHORIOGONADOTROPIN RECEPTOR )

PRECOCIOUS PUBERTY, MALE-LIMITED
» SEXUAL PRECOCITY, FAMILIAL, GONADOTROPIN-INDEPENDENT
» TESTOTOXICOSIS, FAMILIAL

LIFR (LEUKEMIA INHIBITORY FACTOR RECEPTOR)

STUVE-WIEDEMANN SYNDROME
» SCHWARTZ-JAMPEL SYNDROME, TYPE 2
» SCHWARTZ-JAMPEL SYNDROME, NEONATAL

MAP2K1 (MITOGEN-ACTIVATED PROTEIN KINASE KINASE 1, MEK1)

CARDIOFACIOCUTANEOUS SYNDROME, CFC
» CFC SYNDROME

MAP2K2 (MITOGEN-ACTIVATED PROTEIN KINASE KINASE 2, MEK2)

CARDIOFACIOCUTANEOUS SYNDROME, CFC
» CFC SYNDROME

MAPT (MICROTUBULE-ASSOCIATED PROTEIN TAU)

FRONTOTEMPORAL DEMENTIA
» MULTIPLE SYSTEM TAUOPATHY WITH PRESENILE DEMENTIA
» DISINHIBITION-DEMENTIA-PARKINSONISM-AMYOTROPHY COMPLEX
» WILHELMSEN-LYNCH DISEASE
» FRONTOTEMPORAL DEMENTIA-AMYOTROPHIC LATERAL SCLEROSIS
» PALLIDOPONTONIGRAL DEGENERATION

Whole Gene

Whole Gene

SUPRANUCLEAR PALSY, PROGRESSIVE, 1
» STEELE-RICHARDSON-OLSZEWSKI SYNDROME

MBL2 (LECTIN, MANNOSE-BINDING, SOLUBLE, 2, COLLECTIN 1)

5 Mutations: ARG52CYS, GLY54ASP, GLY57GLU, -550G>C and -221G>C

MSX2 (MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 2)

PARIETAL FORAMINA, TYPE 1
» FORAMINA PARIETALIA PERMAGNA
» CATLIN MARKS

CRANIOSYNOSTOSIS, TYPE 2
» CRANIOSYNOSTOSIS, BOSTON-TYPE

MYBPC3 (MYOSIN-BINDING PROTEIN C, CARDIAC)

MYCN (V-MYC AVIAN MYELOCYTOMATOSIS VIRAL-RELATED ONCOGENE, NEUROBLASTOMA-DERIVED)

FEINGOLD SYNDROME
» OCULODIGITOESOPHAGODUODENAL SYNDROME
» ODED SYNDROME
» MICROCEPHALY-OCULO-DIGITO-ESOPHAGEAL-DUODENAL SYNDROME
» DIGITAL ANOMALIES WITH SHORT PALPEBRAL FISSURES AND ATRESIA OF ESOPHAGUSOR DUODENUM
» MICROCEPHALY, MENTAL RETARDATION, AND TRACHEOESOPHAGEAL FISTULA SYNDROME
» MMT SYNDROME

MYH3 (MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC)

ARTHROGRYPOSIS, DISTAL, TYPE 2A
» FREEMAN-SHELDON SYNDROME
» WHISTLING FACE-WINDMILL VANE HAND SYNDROME
» CRANIOCARPOTARSAL DYSTROPHY

ARTHROGRYPOSIS, DISTAL, TYPE 2B
» ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B
» SHELDON-HALL SYNDROME
» FREEMAN-SHELDON SYNDROME VARIANT
» ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2, WITH CRANIOFACIAL ABNORMALITIES

MYH7 (MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA)

MYOPATHY, MYOSIN STORAGE
» MYOPATHY, HYALINE BODY (AUTOSOMAL DOMINANT)

MYOPATHY, DISTAL 1, MPD1
» LAING DISTAL MYOPATHY
» MYOPATHY, DISTAL, EARLY-ONSET (AUTOSOMAL DOMINANT)

MYH7
MYBPC3
TNNT2
TNNI3
TPM1

HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC
» DILATED CARDIOMYOPATHY

NAGLU (N-ACETYLGLUCOSAMINIDASE, ALPHA)

MUCOPOLYSACCHARIDOSIS TYPE 3B, MPS3B
» SANFILIPPO SYNDROME B
» N-ACETYL-ALPHA-D-GLUCOSAMINIDASE DEFICIENCY
» NAGLU DEFICIENCY

NEU1 (NEURAMINIDASE 1, SIALIDASE)

NEURAMINIDASE DEFICIENCY
» SIALIDOSIS, TYPE 2
» SIALIDOSIS, TYPE 1
» MUCOLIPIDOSIS 1, ML1
» LIPOMUCOPOLYSACCHARIDOSIS
» SIALIDASE DEFICIENCY
» NEUG DEFICIENCY
» CHERRY RED SPOT--MYOCLONUS SYNDROME
» MYOCLONUS--CHERRY RED SPOT SYNDROME

256550

NHLRC1 (NHL REPEAT-CONTAINING 1 GENE, EPM2B, MALIN)

MYOCLONIC EPILEPSY OF LAFORA
» LAFORA DISEASE
» EPILEPSY, PROGRESSIVE MYOCLONIC TYPE 2

NKX2E (NK2, DROSOPHILA, HOMOLOG OF, E, NKX2.5, CSX)

NYX (NYCTALOPIN)

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A
» HEMERALOPIA-MYOPIA
» MYOPIA-NIGHT BLINDNESS
» NYCTALOPIA

PEX1 (PEROXISOME BIOGENESIS FACTOR 1)

ZELLWEGER SYNDROME
» CEREBROHEPATORENAL SYNDROME

REFSUM DISEASE, INFANTILE FORM
» INFANTILE PHYTANIC ACID STORAGE DISEASE

ZELLWEGER SYNDROME
» CEREBROHEPATORENAL SYNDROME

950

REFSUM DISEASE, INFANTILE FORM
» INFANTILE PHYTANIC ACID STORAGE DISEASE

POU3F4 (POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 4)

DEAFNESS, CONDUCTIVE, WITH STAPES FIXATION, DFN3
» PERILYMPHATIC GUSHER-DEAFNESS SYNDROME

PPP2R2B (PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B, BETA)

604326

SALL4 (SAL-LIKE 4)

DUANE-RADIAL RAY SYNDROME
» OKIHIRO SYNDROME
» DUANE ANOMALY WITH RADIAL RAY ABNORMALITIES AND DEAFNESS
» DR SYNDROME
» ACRORENOOCULAR SYNDROME

SCN1B (SODIUM CHANNEL, VOLTAGE-GATED, TYPE 1, BETA SUBUNIT)

SH3TC2 (SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2)

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4C, CMT4C (AUTOSOMAL RECESSIVE)

TBP (TATA BOX-BINDING PROTEIN, SCA17)

SPINOCEREBELLAR ATAXIA 17, SCA17
» HUNTINGTON DISEASE-LIKE 4, HDL4

TNFRSF13 (TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 13B, TRANSMEMBRANE ACTIVATOR AND CAML INTERACTOR, TACI1)

COMMON VARIABLE IMMUNODEFICIENCY
» COMMON VARIABLE HYPOGAMMAGLOBULINEMIA
» HYPOGAMMAGLOBULINEMIA, ACQUIRED
» IMMUNOGLOBULIN DEFICIENCY, LATE-ONSET

TNNI2 (TROPONIN 1, FAST-TWITCH SKELETAL MUSCLE ISOFORM)

ARTHROGRYPOSIS, DISTAL, TYPE 2B
» ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B
» SHELDON-HALL SYNDROME
» FREEMAN-SHELDON SYNDROME VARIANT
» ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2, WITH CRANIOFACIAL ABNORMALITIES

TNNI3 (TROPONIN I, CARDIAC)

TNNT2 (TROPONIN T2, CARDIAC)

TNNT3 (TROPONIN T3, FAST SKELETAL)

ARTHROGRYPOSIS, DISTAL, TYPE 2B
» ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B
» SHELDON-HALL SYNDROME
» FREEMAN-SHELDON SYNDROME VARIANT
» ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2, WITH CRANIOFACIAL ABNORMALITIES

TPM1 (TROPOMYOSIN 1)

TPM2 (TROPOMYOSIN 2, beta TROPOMYOSIN)

ARTHROGRYPOSIS, DISTAL, TYPE 1
» ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1

NEMALINE MYOPATHY TYPE 4
» NEMALINE MYOPATHY CAUSED BY MUTATION IN THE TROPOMYOSIN 2 GENE

TREX1 (3-PRIME @REPAIR EXONUCLEASE 1, ATRIP)

AICARDI-GOUTIERES SYNDROME 1
» ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS
» CREE ENCEPHALITIS
» PSEUDO-TORCH SYNDROME
» PSEUDOTOXOPLASMOSIS SYNDROME

UNG (URACIL-DNA GLYCOSYLASE)

IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5
» HYPER-IgM SYNDROME 5

WNT3 (WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 3)

WNT7A (WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 7A)

FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY
» FUHRMANN SYNDROME

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY
» LIMB/PELVIS-HYPOPLASIA/APLASIA SYNDROME
» AL-AWADI/RAAS-ROTHSCHILD SYNDROME
» SCHINZEL PHOCOMELIA SYNDROME

ZAP70 (ZETA-CHAIN-ASSOCIATED PROTEIN KINASE,  SYK-RELATED TYROSINE KINASE)