Adenine AI: Evidence For Genomic Medicine Powered By AI

Aggregated and new evidence added to Adenine AI

Evidence type	Total	YTD	Month	Week
Case Reports	97,375	7,144	3,204	180
Case Series	181,956	10,070	2,211	842
Assay Reports	115,850	8,118	1,460	214
Somatic Fusions	17,848	1,437	524	146
Somatic Cohort	62,330	5,264	2,196	152

Articles we just added to the collection, straight from the latest literature.

Case Report

Biallelic SLC20A2 loss-of-function in severe early-onset neurodevelopmental disorder with brain calcification.

2026 Journal of human genetics PMID: 42601517

HGNC:10947
Case Report

Early Pubertal Progression and Increased 11-Oxygenated Androgens in a Girl with Wiedemann-Steiner Syndrome and a KMT2A Variant: A Case Report.

2026 Molecular syndromology PMID: 42598264

HGNC:7132 MONDO_0011518 MONDO_0000088
Case Series

Hypophosphatasia: Results of a Country-Wide Selective Screening Program Using NGS Technology as a First-Tier Test.

2026 International journal of molecular sciences PMID: 42589660

HGNC:438 MONDO_0018570
Case Series

Association Study Between NOTCH2 Gene and Idiopathic Central Precocious Puberty in Korean Girls.

2026 International journal of molecular sciences PMID: 42589342

HGNC:7882 MONDO_0015713
Functional Assay

DNAJC12 p.Asp44Gly associated with mild hyperphenylalaninemia and migraine-like headaches: Structural and deep learning analyses.

2026 Molecular genetics and metabolism reports PMID: 42604036

HGNC:28908 MONDO_0019335
Functional Assay

Familial erythrocytosis associated with an EGLN1 (PHD2) variant of uncertain significance with emerging evidence of pathogenicity.

2026 BMJ case reports PMID: 42586595

HGNC:1232 MONDO_0001115
Somatic Fusion

Avapritinib for targeting KIT D816V-mutated acute myeloid leukemia relapsed after allogeneic hematopoietic stem cell transplant with extramedullary and central nervous system involvement.

2026 Annals of hematology PMID: 41961082

HGNC:1539 HGNC:7569 MONDO_0018874
Somatic Fusion

Unexpected detection of clear cell sarcoma of soft tissue during single-channel endoscopic carpal tunnel release for recurrent carpal tunnel syndrome: a case report with literature review.

2026 Frontiers in surgery PMID: 41869385

HGNC:3508 HGNC:4232 MONDO_0007275 MONDO_0002926
Somatic Cohort

Two Cases of Steroid Cell Tumour, Not Otherwise Specified, of the Ovary with Distinct Exon 3 CTNNB1 Hotspot Mutations (p.D32V and p.S45P): Further Evidence of Wnt/ÃÂ²-Catenin-Pathway Involvement.

2026 Diagnostics (Basel, Switzerland) PMID: 42587701

HGNC:2514 HGNC:1092
Somatic Cohort

Case Report: Synchronous colorectal adenocarcinomas with discordant mismatch repair status: a case of lynch-like syndrome and serrated pathway association.

2026 Frontiers in oncology PMID: 42125715

HGNC:7127 HGNC:9122 HGNC:7325 HGNC:7329 HGNC:1097 MONDO_0005575 MONDO_0002165