Names of Genes

Gene Chromosome Location Syndrome Category
B3GALNT21q42.3Walker-Warburg syndromeMicrophthalmia
B3GLCT13q12.3Peters plus syndromeCleft lip / cleft palate
B4GAT111q13.2Walker-Warburg syndromeMicrophthalmia
BAG310q26.11Myofibrillar myopathyMuscular dystrophies
BAZ1B7q11.23WILLIAMS-BEUREN REGION DUPLICATION SYNDROMEAutism spectrum
BAZ2B2q24.2Narcissistic Personality DisorderPervasive Developmental Delay
BBSOAS5q15BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROMEAutism spectrum
BC0428234p16.3Autism 18 (AUTS18)Autism spectrum
BC0806059q13Autism 18 (AUTS18)Autism spectrum
BCKDK16p11.2Branched-chain ketoacid dehydrogenase kinase deficiencyAutism spectrum
BCKDKD16p11.2BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCYAutism spectrum
BCL11A2p16.1Intellectual developmental disorder with persistence of fetal hemoglobinAutism spectrum
BCOR23p11.4Oculofaciocardiodental (OFCD) syndromeCataracts
BCR22q11.23Acute lymphoblastic leukemiaLeukemia
BDNF11p13WAGR SyndromeAutism spectrum
BEAN116q21Spinocerebellar ataxia type 31Ataxia spectrum
BEST111q12.3Autosomal dominant vitreoretinochoroidopathy (ADVIRC)Cataracts
BFSP120p12.1Cataract 33 multiple types (CTRCT33)Cataracts
BFSP23q22.1Juvenile-onset progressive cataractsCataracts
BFSP23q22.1Cataract 12 multiple types (CTRCT12)Autism spectrum
BHLHE4112p12.1Seasonal affective disorderSleep disorders
BLK8p23.1Rheumatoid arthritisArthritis
BLOC1S319q13.32Hermansky-Pudlak syndromeIrritable Bowel Disorders
BLOC1S615q21.1Hermansky-Pudlak syndromeIrritable Bowel Disorders
BMP414q22.2Microphthalmia syndromic 6 (MCOPS6)Microphthalmia
BPNT11q41-a42Fryn`s Syndrome - 1Q41-Q42 microdeletionAutism spectrum
BRAF7q34Noonan syndromeAutism spectrum
BRAF7q34Langerhans cell histiocytosisDiabetes
BRAF7q34Cardiofaciocutaneous syndromeAutism spectrum
BRAT17p22.3Rigidity and multifocal seizure syndrome lethal neonatal (RMFSL)Microcephaly
BRCA213q13.1Microcephaly - otherMicrocephaly
BRIP117q23.2Microcephaly - otherMicrocephaly
BRNRS23p11.3BRUNNER SYNDROMEAutism spectrum
BRPS18q12.1Bainbridge-Ropers syndromeAutism spectrum
BTBD96p21.2Restless legs syndromeSleep disorders
BTD3p25.1Biotinidase deficiencyAlopecia
BTDD5q14.2BRACHYCEPHALY TRICHOMEGALY AND DEVELOPMENTAL DELAYAutism spectrum
BTNL26p21.32Ulcerative colitisIrritable Bowel Disorders
BTNL26p21.32Type 1 DiabetesDiabetes


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