NO CANCER development

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OMIM ID NAME PROTEINS TYPE ALIASES ABBREVIATIONS PATHWAY(S) RELATED
266280 RAPADILINO syndrome RECQL4 (RTS) facial anomalies, NO CANCER development, skeletal abnormalities
208920 early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1 (EAOH/AOA1) APTX neurodegenerative disease, psychomotor impairment, NO CANCER development, eye or vision problem, immunodeficiency ATAXIA EARLY-ONSET WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
ataxia-oculomotor apraxia 1
EAOH
AOA
AOA1

EOCA-HA
EAOH/AOA1
216400 Cockayne syndrome, TYPE A ERCC8 (CSA) neurodegenerative disease, mental retardation (MR), premature aging, skeletal abnormalities, sensitivity to radiation, NO CANCER development, eye or vision problem Weber-Cockayne syndrome
Neill-Dingwall Syndrome
CSA nucleotide excision repair (NER)
604391 ataxia-telangiectasia-like disorder (ATLD) MRE11A sensitivity to radiation, NO CANCER development, chromosomal instability ATLD homologous recombination (HR), non-homologous end-joining (NHEJ)
600630 UV-sensitive syndrome (UVS) ERCC6 (CSB) sensitivity to radiation, NO CANCER development UVS nucleotide excision repair (NER)
133540 Cockayne syndrome, TYPE B (CSB) ERCC6 (CSB) microcephaly, mental retardation (MR), psychomotor impairment, sensitivity to radiation, NO CANCER development, eye or vision problem, cerebro-oculo-facio-skeletal-syndrome (COFS) CSB syndrome CSB nucleotide excision repair (NER)

Last modification date: July 2, 2011