Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
X-LINKED INTELLECTUAL DISABILITY	MESH:D038901 MONDO:0100284	PQBP1	Unknown	—	CTD
		PTCHD1	Unknown	8503438	CTD
		RAB39B	Unknown	17941886	CTD
		RAB40AL	Unknown	18469813	CTD
		SLC6A8	Unknown	14634649 15024694	CTD
		SMARCA1	Unknown	21091464	ClinGen Disgenet
		SYP	Unknown	20159109	CTD
		UPF3B	Unknown	22581972	CTD
		USP27X	Unknown	18350323	ClinGen Disgenet
		ZNF41	Unknown	14609955 22516202 26539891 26740508 27457812 27479843 33057194 33980485	CTD
		ZNF674	Unknown	19377476	CTD ClinGen
		ZNF711	Unknown	17704778	CTD
		ZNF81	Unknown	24483321 25644381 25846153 31316545 31985299	ClinGen
X-LINKED INTELLECTUAL DISABILITY AND HYPOTONIA WITH FACIAL DYSMORPHISM AND AGGRESSIVE BEHAVIOR SYNDROME	C4304918	AP1S2	Unknown	14628291	Disgenet
X-LINKED INTELLECTUAL DISABILITY ARMFIELD TYPE	C4305022	FAM50A	Unknown	16385466	Disgenet
X-LINKED INTELLECTUAL DISABILITY CABEZAS TYPE		CUL4B	Causal	19377476	ClinVar
X-LINKED INTELLECTUAL DISABILITY CANTAGREL TYPE	C4305023	NEXMIF	Unknown	—	Disgenet
X-LINKED INTELLECTUAL DISABILITY DUE TO GLUTAMATE IONOTROPIC RECEPTOR AMPA TYPE SUBUNIT 3 MUTATIONS	C5191041	GRIA3	Unknown	—	Disgenet
X-LINKED INTELLECTUAL DISABILITY DUE TO GRIA3 ANOMALIES	MONDO:0018222	GRIA3	Unknown	—	GWAS catalog
X-LINKED INTELLECTUAL DISABILITY DUE TO GRIA3 MUTATIONS	364028	GRIA3	Unknown	—	Orphanet
X-LINKED INTELLECTUAL DISABILITY NASCIMENTO TYPE	C4512071	UBE2A	Unknown	—	Disgenet
X-LINKED INTELLECTUAL DISABILITY SIDERIUS TYPE	C4305078	PHF8	Unknown	—	Disgenet
X-LINKED INTELLECTUAL DISABILITY STOCCO DOS SANTOS TYPE	C4305076	SHROOM4	Unknown	17989220	Disgenet
X-LINKED INTELLECTUAL DISABILITY VAN ESCH TYPE	C4305072	POLA1	Unknown	17989220	Disgenet
X-LINKED INTELLECTUAL DISABILITY WITH CEREBELLAR HYPOPLASIA SYNDROME	C4304937	OPHN1	Unknown	—	Disgenet
X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY	67045 MONDO:0019032	SOX3	Causal	—	GenCC Orphanet
X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS	MONDO:0010655	MED12	Causal	—	ClinVar GWAS catalog
		UPF3B	Unknown	—	GWAS catalog
		ZDHHC9	Unknown	—	GWAS catalog
X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE	85293 MONDO:0010306	CUL4B	Unknown	12428212 22139958	ClinGen GWAS catalog Orphanet
X-LINKED INTELLECTUAL DISABILITY, CANTAGREL TYPE	85277 MONDO:0010483	NEXMIF	Causal	6711603 24123922 17369503 24715367 27286923 27312080 27500536 27980443 28544239 30006928 31536828	CTD ClinVar Orphanet
X-LINKED INTELLECTUAL DISABILITY, CARDIOMEGALY, CONGESTIVE HEART FAILURE SYNDROME	C4751008	CLIC2	Unknown	17704778	Disgenet
X-LINKED INTELLECTUAL DISABILITY, CEREBELLAR HYPOPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA SYNDROME	C5687848	RPL10	Unknown	23506379 17436253	Disgenet
X-LINKED INTELLECTUAL DISABILITY, GOLABI-ITO-HALL TYPE	93947 C5681614 MONDO:0019768	PQBP1	Unknown	17236139 36476360 32768688 31645981 28817236 28144446 25385192 24898194 22182342 20014135 20002452 17273978 2000245	Disgenet GenCC Orphanet
X-LINKED INTELLECTUAL DISABILITY, HEDERA TYPE	93952	ATP6AP2	Unknown	15466006 23615299 24307393 25473036 25590979 25900396 26576034 27358180 27568816	Orphanet
X-LINKED INTELLECTUAL DISABILITY, HYPOTONIA, MOVEMENT DISORDER SYNDROME	C5681121	DDX3X	Unknown	—	Disgenet
X-LINKED INTELLECTUAL DISABILITY, LIMB SPASTICITY, RETINAL DYSTROPHY, ARGININE VASOPRESSIN DEFICIENCY	C4517296	PRPS1	Unknown	—	Disgenet
X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE	163937	CASK	Unknown	—	Orphanet
X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE	163956	UBE2A	Unknown	15746149	Orphanet
X-LINKED INTELLECTUAL DISABILITY, PORTEOUS TYPE	93945 C5681616 MONDO:0019766	PQBP1	Unknown	—	Disgenet GenCC Orphanet
X-LINKED INTELLECTUAL DISABILITY, SHASHI TYPE	85286	RBMX	Unknown	—	Orphanet
X-LINKED INTELLECTUAL DISABILITY, SHORT STATURE, OVERWEIGHT SYNDROME	C5681122	THOC2	Unknown	19165920	Disgenet
X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE	85287	PHF8	Unknown	16909393	Orphanet
X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE	3063	SMS	Unknown	—	Orphanet
X-LINKED INTELLECTUAL DISABILITY, STOCCO DOS SANTOS TYPE	85288 MONDO:0010325	SHROOM4	Causal	25256757 34260915	Disgenet Orphanet
X-LINKED INTELLECTUAL DISABILITY, SUTHERLAND-HAAN TYPE	93950 C5681613 MONDO:0019769	PQBP1	Unknown	—	Disgenet GenCC Orphanet
X-LINKED INTELLECTUAL DISABILITY, VAN ESCH TYPE	163976 MONDO:0015601	POLA1	Causal	17661819	CTD ClinVar Orphanet
X-LINKED INTELLECTUAL DISABILITY-CARDIOMEGALY-CONGESTIVE HEART FAILURE SYNDROME	324410 MONDO:0010473	CLIC2	Unknown	23805436	GWAS catalog Orphanet
X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME	137831 MONDO:0010337	OPHN1	Causal	16249884 20613765 25356970 25670966 30630535	ClinGen ClinVar GWAS catalog Orphanet
X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA-SPONDYLO-EPIPHYSEAL DYSPLASIA SYNDROME	459070 MONDO:0018724	RPL10	Unknown	—	GWAS catalog Orphanet

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X-linked intellectual disability