Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
INTELLECTUAL DISABILITY	C3714756 MESH:D008607 MONDO:0001071	HOXA1	Unknown	—	Disgenet	Signaling pathways regulating pluripotency of stem cells
		HRAS	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +134 more
		HYCC1	Unknown	21937992	CTD	—
		INPP5E	Unknown	19668215	CTD	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +2 more
		ITPR2	Unknown	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway Phosphatidylinositol signaling system +48 more
		JAKMIP1	Unknown	—	Disgenet	—
		JMJD1C	Unknown	—	Disgenet	Transcriptional misregulation in cancer Factors involved in megakaryocyte development and platelet production
		KCNJ10	Unknown	—	Disgenet	Gastric acid secretion Huntington disease Activation of G protein gated Potassium channels +2 more
		KDM6A	Unknown	—	Disgenet	Transcriptional misregulation in cancer HDMs demethylate histones
		KIF1A	Unknown	—	Disgenet	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
		KIF1B	Unknown	—	Disgenet	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
		KIF7	Unknown	21937992	CTD, Disgenet	Hedgehog signaling pathway Motor proteins Pathways in cancer +3 more
		KIFBP	Unknown	15883926	CTD	—
		KIRREL3	Unknown	—	Disgenet	Nephrin family interactions
		KLF7	Unknown	—	Disgenet	—
		KMT2B	Unknown	—	Disgenet	Lysine degradation Metabolic pathways PKMTs methylate histone lysines +1 more
		L2HGDH	Unknown	21937992	CTD	Butanoate metabolism Metabolic pathways Interconversion of 2-oxoglutarate and 2-hydroxyglutarate
		LAMA1	Unknown	21937992	CTD	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +12 more
		LAMA2	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +12 more
		LAMC3	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +7 more
		LAMP2	Unknown	—	Disgenet	Virion - Hepatitis viruses Virion - Lassa virus and SFTS virus Autophagy - animal +5 more
		LETM1	Unknown	14706454	CTD	—
		LGI1	Unknown	—	Disgenet	LGI-ADAM interactions
		LRP2	Unknown	23033978	Disgenet, GWAS catalog	Hedgehog signaling pathway Thyroid hormone synthesis Cholesterol metabolism +4 more
		LRRC56	Unknown	—	Disgenet	—
		LRRC7	Unknown	—	Disgenet	—
		LSM1	Unknown	—	Disgenet	RNA degradation mRNA decay by 5' to 3' exoribonuclease
		MAN1B1	Unknown	21937992	CTD, Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +3 more
		MAOA	Unknown	—	Disgenet	Glycine, serine and threonine metabolism Arginine and proline metabolism Histidine metabolism +18 more
		MCC	Unknown	8071957	CTD	Wnt signaling pathway
		MCOLN1	Unknown	—	Disgenet	Calcium signaling pathway Lysosome TRP channels +1 more
		MCPH1	Unknown	—	Disgenet	Condensation of Prophase Chromosomes
		MED17	Unknown	—	Disgenet	Thyroid hormone signaling pathway PPARA activates gene expression Generic Transcription Pathway +1 more
		MED27	Unknown	—	Disgenet	Thyroid hormone signaling pathway PPARA activates gene expression Generic Transcription Pathway +1 more
		MET	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway Ras signaling pathway +37 more
		MFSD2A	Unknown	26005865	CTD, Disgenet	Synthesis of PC
		MITF	Unknown	—	Disgenet	Mitophagy - animal Osteoclast differentiation Melanogenesis +4 more
		MPP4	Unknown	—	Disgenet	Tight junction
		MTF1	Unknown	—	Disgenet, GenCC	PPARA activates gene expression Activation of gene expression by SREBF (SREBP) MTF1 activates gene expression
		MYBPC3	Unknown	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Dilated cardiomyopathy +1 more
		MYOCD	Unknown	—	Disgenet	—
		NDE1	Unknown	—	Disgenet	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion +10 more
		NLGN4X	Unknown	—	Disgenet	Cell adhesion molecules Neurexins and neuroligins
		NR1I3	Unknown	—	Disgenet, GenCC	Chemical carcinogenesis - receptor activation Nuclear Receptor transcription pathway
		NRG2	Unknown	—	Disgenet, GenCC	EGFR tyrosine kinase inhibitor resistance ErbB signaling pathway Amyotrophic lateral sclerosis +18 more
		NRXN2	Unknown	—	Disgenet	Cell adhesion molecules Neurexins and neuroligins
		NT5C1B-RDH14	Unknown	—	Disgenet	Purine metabolism Pyrimidine metabolism Nicotinate and nicotinamide metabolism +3 more
		NTF4	Unknown	11357950	CTD	MAPK signaling pathway Ras signaling pathway PI3K-Akt signaling pathway +3 more
		NTRK1	Unknown	—	Disgenet	MAPK signaling pathway Ras signaling pathway Calcium signaling pathway +13 more
		OPHN1	Unknown	12805098 12807966 16158428 18261018 20528889 24105372 27390894 29510240 29960046 30534410 32872024 33638601 9582072	Disgenet	Rho GTPase cycle
INTELLECTUAL IMPAIRMENT	C0683322	KLF7	Unknown	—	Disgenet	—
MENTAL RETARDATION	C0025362	HYCC1	Unknown	—	Disgenet	—
		INPP5E	Unknown	—	Disgenet	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +2 more
		KIF7	Unknown	—	Disgenet	Hedgehog signaling pathway Motor proteins Pathways in cancer +3 more
		KIFBP	Unknown	—	Disgenet	—
		L2HGDH	Unknown	—	Disgenet	Butanoate metabolism Metabolic pathways Interconversion of 2-oxoglutarate and 2-hydroxyglutarate
		LAMA1	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +12 more
		LETM1	Unknown	—	Disgenet	—
		MAN1B1	Unknown	21763484 21937992 24348268 24566669 26279649 26577042	Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +3 more
		MCC	Unknown	—	Disgenet	Wnt signaling pathway
		MFSD2A	Unknown	—	Disgenet	Synthesis of PC
		NTF4	Unknown	—	Disgenet	MAPK signaling pathway Ras signaling pathway PI3K-Akt signaling pathway +3 more
MENTAL RETARDATION, AUTOSOMAL DOMINANT 4	C2675487	KIRREL3	Unknown	19012874	Disgenet	Nephrin family interactions

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Intellectual developmental disorder

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