Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.300 Biomarker disease GENOMICS_ENGLAND Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome. 31630791 2019
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		0.300 Biomarker group GENOMICS_ENGLAND Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome. 31630791 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker disease GENOMICS_ENGLAND Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome. 31630791 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker group GENOMICS_ENGLAND Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome. 31630791 2019
CUI: C4023689
Disease: Abnormality of copper homeostasis
Abnormality of copper homeostasis 		0.300 Biomarker phenotype GENOMICS_ENGLAND Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome. 31630791 2019
CUI: C4025860
Disease: Hearing abnormality
Hearing abnormality 		0.300 Biomarker disease GENOMICS_ENGLAND Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome. 31630791 2019
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.200 Biomarker group MGD
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.200 Biomarker disease MGD
CUI: C1415817
Disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL
HETEROTAXY, VISCERAL, 2, AUTOSOMAL 		0.200 Biomarker disease MGD
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.200 Biomarker disease MGD
CUI: C1853444
Disease: Heterotaxy, Visceral, 3, Autosomal
Heterotaxy, Visceral, 3, Autosomal 		0.200 Biomarker disease MGD
CUI: C3151057
Disease: HETEROTAXY, VISCERAL, 4, AUTOSOMAL
HETEROTAXY, VISCERAL, 4, AUTOSOMAL 		0.200 Biomarker disease MGD
CUI: C3151867
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED 		0.200 Biomarker disease MGD
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome 		0.200 Biomarker disease MGD
CUI: C3553676
Disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL
HETEROTAXY, VISCERAL, 6, AUTOSOMAL 		0.200 Biomarker disease MGD
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0025286
Disease: Meningioma
Meningioma 		0.030 Biomarker disease BEFREE Other chromosome 22q genes implicated include BAM22, BCR (breakpoint cluster region), and TIMP-1, the last of which is implicated in higher-grade meningiomas. 20809251 2010
CUI: C0025286
Disease: Meningioma
Meningioma 		0.030 Biomarker disease BEFREE We previously cloned the human beta'-adaptin gene (BAM22) (GDB symbol, ADTB1) from chromosome 22q12 and proposed its involvement in the development of meningiomas. 8812422 1996
CUI: C0025286
Disease: Meningioma
Meningioma 		0.030 GeneticVariation disease BEFREE Based on this, we propose BAM22 as a second chromosome 22 locus important in meningioma development, after the neurofibromatosis type 2 gene. 7987321 1994
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE This discrepancy supports the theory that a second tumor suppressor gene exists on chromosome 22, and the authors introduce several possible gene candidates, including BAM22, LARGE, INI1, and MN1 genes. 16398473 2005
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE The BAM22 gene is totally inactivated in the tumor with homozygous deletion. 7987321 1994
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.010 GeneticVariation disease BEFREE Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia. 31630788 2019
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		0.010 GeneticVariation disease BEFREE Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia. 31630788 2019
CUI: C0563625
Disease: Agnosia for Pain
Agnosia for Pain 		0.010 Biomarker disease BEFREE BAM22, a bivalent agonist of MrgC and opioid receptors, enhanced the interaction between MrgC11 and MOR and produced stronger analgesia than did the individual monovalent agonists. 29921657 2018
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma 		0.010 GeneticVariation disease BEFREE Based on this, we propose BAM22 as a second chromosome 22 locus important in meningioma development, after the neurofibromatosis type 2 gene. 7987321 1994