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#619180 - MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27
Gene summaries Genetic tests Medical literature
#619179 - MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26
#616540 - EPILEPSY, PROGRESSIVE MYOCLONIC, 9; EPM9
Cytogenetic locations: #Ga%##
%613913 - LIPODYSTROPHY, PARTIAL, ACQUIRED, WITH LOW COMPLEMENT COMPONENT C3, WITH OR WITHOUT GLOMERULONEPHRITIS; APLDC3
#613675 - CHROMOSOME 17q11.2 DELETION SYNDROME, 1.4-MB
*611358 - RING FINGER PROTEIN 135; RNF135
#608709 - LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO; APLD
Cytogenetic locations: ######
*607456 - UTP4 SMALL SUBUNIT PROCESSOME COMPONENT; UTP4
Cytogenetic locations: TK2
*607383 - TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 13; TIMM13
Cytogenetic locations: 0Ha###
*606726 - SOLUTE CARRIER FAMILY 12 (POTASSIUM/CHLORIDE TRANSPORTER), MEMBER 5; SLC12A5
*606702 - PKHD1 CILIARY IPT DOMAIN-CONTAINING FIBROCYSTIN/POLYDUCTIN; PKHD1
*605557 - PR DOMAIN-CONTAINING PROTEIN 16; PRDM16
Cytogenetic locations: 1p36.32
*605371 - ADP-RIBOSYLATION FACTOR GUANINE NUCLEOTIDE EXCHANGE FACTOR 2; ARFGEF2
*604983 - POLYMERASE, DNA, GAMMA-2; POLG2
*604961 - PHOSPHODIESTERASE 11A; PDE11A
PDE11A2, INCLUDED
%604901 - NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS; NAIC
*604846 - HEPARAN SULFATE 6-O-SULFOTRANSFERASE 1; HS6ST1
Cytogenetic locations: #####
*603824 - UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE; GNE
*601771 - CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1B1
*601762 - CASPASE 10, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP10
CASPASE 10, ISOFORM B, INCLUDED; CASP10B, INCLUDED
Cytogenetic locations: mutation
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