Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY	88616 C5680181 MONDO:0019502	NDST1	Unknown	25125150	ClinGen Disgenet Orphanet
		NEMF	Unknown	32934225	Disgenet Orphanet
		PGAP1	Unknown	24784135	CTD Disgenet Orphanet
		PIGC	Unknown	27694521	Disgenet Orphanet
		PRSS12	Unknown	12459588	Disgenet Orphanet
		RSRC1	Unknown	28640246 29522154	Disgenet GWAS catalog Orphanet
		SARS1	Unknown	28236339	Disgenet GWAS catalog Orphanet
		SLC12A2	Unknown	32658972	Disgenet GWAS catalog
		SLC45A1	Unknown	28434495	Disgenet GWAS catalog Orphanet
		ST3GAL3	Unknown	21907012	Disgenet GWAS catalog
		TECR	Unknown	21212097	Disgenet GWAS catalog Orphanet
		TMEM276	Unknown	—	Disgenet
		TMEM276-ZFTRAF1	Unknown	—	Disgenet
		TNIK	Unknown	27106596	CTD Disgenet Orphanet
		TPR	Unknown	34494102	Disgenet Orphanet
		TTC5	Unknown	32439809	CTD Disgenet Orphanet
		TUSC3	Unknown	21739581	Disgenet Orphanet
		UBE4A	Unknown	33420346	Disgenet Orphanet
		UFSP2	Unknown	33473208	CTD Disgenet
		WASHC4	Unknown	21498477	Disgenet Orphanet
		WDR11	Unknown	—	Disgenet
		ZC3H14	Unknown	21734151	Disgenet GWAS catalog Orphanet
		ZFTRAF1	Unknown	—	Disgenet
AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 61	MONDO:0013471	SLC26A5	Causal	103062016 12239568 12719379 15207913 15319415 17786286 21954035 23212912 24164807 25262649 26682723 26824437 27041369 27232762	CTD ClinVar
AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 63	MONDO:0012670	LRTOMT	Causal	—	ClinGen ClinVar GenCC
AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 66	MONDO:0012442	DCDC2	Causal	—	ClinVar GenCC
AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 67	MONDO:0012460	LHFPL5	Causal	15905332 16459341 16752389 21816241 23967202 251480 251488 26029705	ClinVar GWAS catalog
AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 68	MONDO:0012485	S1PR2	Causal	26805784 27383011 29776397	ClinVar Disgenet
AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 7	MONDO:0010967	TMC1	Causal	—	ClinGen ClinVar GenCC
AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 70	MONDO:0013978	PNPT1	Causal	23084290 23084291 25457163	ClinVar GWAS catalog
AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 74	MONDO:0013386	MSRB3	Causal	21185009 24191262 24949729 250970 26649646	ClinVar Disgenet
AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 76	MONDO:0014237	SYNE4	Causal	23348741 28958982	ClinVar GWAS catalog
AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 77	MONDO:0013119	LOXHD1	Causal	—	ClinVar GenCC
AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 79	MONDO:0013215	TPRN	Causal	20170899 20170898	ClinVar GWAS catalog
AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 8	MONDO:0010987	TMPRSS3	Causal	17551081 21786053	CTD ClinVar
AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 84A	MONDO:0013249	PTPRQ	Causal	—	ClinVar GenCC
AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 84B	MONDO:0013984	OTOGL	Causal	23122586	ClinVar Disgenet
AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 86	MONDO:0013826	TBC1D24	Causal	25719194	ClinVar
AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 88	MONDO:0014182	ELMOD3	Causal	—	ClinVar GenCC
AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 89	MONDO:0013489	KARS1	Causal	23768514	ClinVar GenCC
AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 9	MONDO:0010986	OTOF	Causal	—	ClinGen ClinVar GenCC
AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 91	MONDO:0013269	SERPINB6	Causal	20451170	ClinVar GWAS catalog
AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 93	MONDO:0013963	CABP2	Causal	22981119 26226137 28183797	ClinVar Orphanet
AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 97	MONDO:0014739	MET	Causal	25941349 31801140	CTD ClinVar
AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 98	MONDO:0013929	TSPEAR	Causal	—	ClinVar GenCC
NON-SYNDROMIC INTELLECTUAL DISABILITY	MONDO:0000509	PRSS12	Unknown	12459588	ClinGen Disgenet

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Nonsyndromic intellectual disability