association	dataset	threshold value	standardized value
Fetal alcohol spectrum disorder	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	1.0	1.055
Brachydactyly	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	1.0	1.421
alcohol-related neurodevelopmental disorder	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	1.0	1.65
Spondyloepimetaphyseal dysplasia	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	1.0	1.736
regulation of Notch signaling pathway	GO Biological Process Annotations 2025	1.0	null
Ectodermal dysplasia	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	1.0	1.251
Orofaciodigital syndrome	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	1.0	1.368
nucleolus	GO Cellular Component Annotations 2025	1.0	null
Disease of anatomical entity	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	1.0	1.187
Osteochondrodysplasia	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	1.0	1.523
preweaning lethality, complete penetrance	IMPC Knockout Mouse Phenotypes	1.0	null
abnormal embryo size	IMPC Knockout Mouse Phenotypes	1.0	null
Metaphyseal dysplasia	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	1.0	1.336
Brain - Anterior cingulate cortex (BA24)	GTEx Tissue Gene Expression Profiles 2023	-1.0	-2.44755
GTEx Thyroid 20-29 vs 50-59	GTEx Tissue-Specific Aging Signatures	-1.0	-5.6229
Coloboma	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	1.0	1.028
Anauxetic dysplasia 2	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	1.0	2.655
Colon - Transverse	GTEx Tissue Gene Expression Profiles 2023	-1.0	-1.09007
Neuroendocrine tumor	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	1.0	1.013
positive regulation of signal transduction	GO Biological Process Annotations 2025	1.0	null
intracellular membrane-bounded organelle	GO Cellular Component Annotations 2025	1.0	null
nuclear lumen	GO Cellular Component Annotations 2025	1.0	null
Autosomal dominant nonsyndromic deafness 1	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	1.0	1.194
Brain - Spinal cord (cervical c-1)	GTEx Tissue Gene Expression Profiles 2023	-1.0	-1.31463
Bone development disease	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	1.0	1.434
Choanal atresia	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	1.0	1.395
Microcephalic osteodysplastic primordial dwarfism type I	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	1.0	1.127
nucleus	GO Cellular Component Annotations 2025	1.0	null
Brain - Substantia nigra	GTEx Tissue Gene Expression Profiles 2023	-1.0	-1.19982
regulation of neuron differentiation	GO Biological Process Annotations 2025	1.0	null
Disease	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	1.0	1.203
Neuroblastoma	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	1.0	1.167
Christianson syndrome	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	1.0	1.029
Peripheral nervous system disease	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	1.0	1.08
Adrenal neuroblastoma	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	1.0	1.092
Anauxetic dysplasia 1	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	1.0	2.759
intracellular membraneless organelle	GO Cellular Component Annotations 2025	1.0	null
Nervous system disease	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	1.0	1.119
Anauxetic dysplasia	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	1.0	2.387
Dysostosis	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	1.0	1.209
positive regulation of Notch signaling pathway	GO Biological Process Annotations 2025	1.0	null
Pheochromocytoma	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	1.0	1.137
Autonomic nervous system neoplasm	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	1.0	1.167
Adipose - Visceral (Omentum)	GTEx Tissue Gene Expression Profiles 2023	-1.0	-1.85914
negative regulation of cell differentiation	GO Biological Process Annotations 2025	1.0	null
Peripheral nervous system neoplasm	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	1.0	1.141
Isolated growth hormone deficiency type IA	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	1.0	1.108
cartilage-hair hypoplasia	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	1.0	1.789
Small Intestine - Terminal Ileum	GTEx Tissue Gene Expression Profiles 2023	-1.0	-1.20995
negative regulation of neuron differentiation	GO Biological Process Annotations 2025	1.0	null
embryonic lethality prior to organogenesis	IMPC Knockout Mouse Phenotypes	1.0	null