Monosomy 13q14 |
Primary biliary cirrhosis |
RB1 | IL12A | |||
IL12RB1 | ||||
IRF5 | ||||
MMEL1 | (UniProt) | |||
POU2AF1 | ||||
SPIB | ||||
TNFSF15 | ||||
TNPO3 |
INTERACTOME ASSOCIATIONS (click on a score value to see the evidence) |
RB1 | (0.62) | SPIB | |
Citations in the biomedical literature:
Monosomy 13q14 | |
Very frequent - Broad nose / nasal bridge - Helix thickened / sculpted - High nasal bridge - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Microcephaly - Short stature / dwarfism / nanism - Total / partial trisomy / duplication Frequent - Abnormal dermatoglyphics - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Cataract / lens opacification - Clinodactyly of fifth finger - Coloboma of iris - Congenital cardiac anomaly / malformation / cardiopathy - Epicanthic folds - Hypotonia - Low set ears / posteriorly rotated ears - Micrognathia / retrognathia / micrognathism / retrognathism - Prominent / bat ears - Ptosis - Retinoblastoma - Short hand / brachydactyly - Short neck - Syndactyly of fingers / interdigital palm - Trigonocephaly Occasional - Anus / rectum anomalies - Corpus callosum / septum pellucidum total / partial agenesis - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Thumb hypoplasia / aplasia / absence - Webbed neck / pterygium colli | |
Primary biliary cirrhosis | |
(no data available) |