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*314370 - UBIQUITIN-LIKE MODIFIER-ACTIVATING ENZYME 1; UBA1
TEMPERATURE-SENSITIVE MUTATION, MOUSE, COMPLEMENTATION OF, INCLUDED
Cytogenetic locations: 32323223
Gene summaries Genetic tests Medical literature
*300746 - COAGULATION FACTOR IX; F9
Cytogenetic locations: 13487139
#278780 - XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG
XERODERMA PIGMENTOSUM, TYPE G/COCKAYNE SYNDROME, INCLUDED; XPG/CS, INCLUDED
Cytogenetic locations: 11228268
#216400 - COCKAYNE SYNDROME A; CSA
Cytogenetic locations: Dab2
#158350 - COWDEN SYNDROME 1; CWS1
LHERMITTE-DUCLOS DISEASE, INCLUDED; LDD, INCLUDED
Cytogenetic locations: 19957004
#601800 - SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8, INCLUDED
Cytogenetic locations: 17952075
#610612 - LEBER CONGENITAL AMAUROSIS 12; LCA12
Cytogenetic locations: 22531706
#610356 - RETINAL CONE DYSTROPHY 3B; RCD3B
Cytogenetic locations: 16909397
#615009 - SCHUURS-HOEIJMAKERS SYNDROME; SHMS
Cytogenetic locations: 11q12.3
#605724 - FANCONI ANEMIA, COMPLEMENTATION GROUP D1; FANCD1
Cytogenetic locations: 30207912
#127750 - DEMENTIA, LEWY BODY; DLB
DIFFUSE LEWY BODY DISEASE WITH GAZE PALSY, INCLUDED
Cytogenetic locations: 1p36, 1p36, -
#268400 - ROTHMUND-THOMSON SYNDROME, TYPE 2; RTS2
Cytogenetic locations: 12325107
#176270 - PRADER-WILLI SYNDROME; PWS
PRADER-WILLI SYNDROME CHROMOSOME REGION, INCLUDED; PWCR, INCLUDED
Cytogenetic locations: 12248305
#204700 - AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1; AI2A1
Cytogenetic locations: 21597265
#612529 - AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2; AI2A2
Cytogenetic locations: 23150442
#209880 - CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 1; CCHS1
ONDINE-HIRSCHSPRUNG DISEASE, INCLUDED; OHD, INCLUDED
Cytogenetic locations: 13582411
#246450 - 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY; HMGCLD
Cytogenetic locations: 36228350
*124030 - CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6
Cytogenetic locations: 19357098
#268800 - SANDHOFF DISEASE
SANDHOFF DISEASE, ADULT TYPE, INCLUDED
Cytogenetic locations: 18758829
#261600 - PHENYLKETONURIA; PKU
HYPERPHENYLALANINEMIA, NON-PKU MILD, INCLUDED
Cytogenetic locations: associated
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