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Genes and mapped phenotypes

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Name/Gene ID	Description	Location	Aliases	MIM
Select item 155038 GIMAP8 ID: 155038	GTPase, IMAP family member 8 [Homo sapiens (human)]	Chromosome 7, NC_000007.14 (150450630..150479393)	IAN-9, IAN6, IAN9, IANT	616962
Select item 351 APP ID: 351	amyloid beta precursor protein [Homo sapiens (human)]	Chromosome 21, NC_000021.9 (25880550..26171128, complement)	AAA, ABETA, ABPP, AD1I, CTFgamma, CVAP, PN-II, PN2, alpha-sAPP, preA4, APP	104760
Select item 2521 FUS ID: 2521	FUS RNA binding protein [Homo sapiens (human)]	Chromosome 16, NC_000016.10 (31180110..31194871)	ALS6, ETM41, HNRNPP2, POMP75, TLS, altFUS, FUS	137070
Select item 7295 TXN ID: 7295	thioredoxin [Homo sapiens (human)]	Chromosome 9, NC_000009.12 (110243810..110256507, complement)	TRDX, TRX, TRX11, Trx80, TXN	187700
Select item 23451 SF3B1 ID: 23451	splicing factor 3b subunit 1 [Homo sapiens (human)]	Chromosome 2, NC_000002.12 (197389784..197435093, complement)	Hsh155, MDS, PRP10, PRPF10, SAP155, SF3b155	605590
Select item 2395 FXN ID: 2395	frataxin [Homo sapiens (human)]	Chromosome 9, NC_000009.12 (69035752..69079076)	CyaY, FA, FARR, FRDA, X25	606829
Select item 8661 EIF3A ID: 8661	eukaryotic translation initiation factor 3 subunit A [Homo sapiens (human)]	Chromosome 10, NC_000010.11 (119033670..119080817, complement)	EIF3, EIF3S10, P167, TIF32, eIF3-p170, eIF3-theta, p180, p185	602039
Select item 6949 TCOF1 ID: 6949	treacle ribosome biogenesis factor 1 [Homo sapiens (human)]	Chromosome 5, NC_000005.10 (150357697..150400293)	MFD1, TCS, TCS1, treacle	606847
Select item 25824 PRDX5 ID: 25824	peroxiredoxin 5 [Homo sapiens (human)]	Chromosome 11, NC_000011.10 (64318121..64321811)	ACR1, AOEB166, B166, HEL-S-55, PLP, PMP20, PRDX6, PRXV, SBBI10, prx-V	606583
Select item 11345 GABARAPL2 ID: 11345	GABA type A receptor associated protein like 2 [Homo sapiens (human)]	Chromosome 16, NC_000016.10 (75566379..75577881)	ATG8, ATG8C, GATE-16, GATE16, GEF-2, GEF2	607452
Select item 29119 CTNNA3 ID: 29119	catenin alpha 3 [Homo sapiens (human)]	Chromosome 10, NC_000010.11 (65912523..67763594, complement)	ARVD13, VR22	607667
Select item 204 AK2 ID: 204	adenylate kinase 2 [Homo sapiens (human)]	Chromosome 1, NC_000001.11 (33007940..33036883, complement)	ADK2	103020
Select item 6731 SRP72 ID: 6731	signal recognition particle 72 [Homo sapiens (human)]	Chromosome 4, NC_000004.12 (56467617..56503681)	BMFF, BMFS1, HEL103	602122
Select item 6730 SRP68 ID: 6730	signal recognition particle 68 [Homo sapiens (human)]	Chromosome 17, NC_000017.11 (76038785..76072517, complement)	SCN10	604858
Select item 56924 PAK6 ID: 56924	p21 (RAC1) activated kinase 6 [Homo sapiens (human)]	Chromosome 15, NC_000015.10 (40239063..40277487)	PAK5	608110
Select item 203 AK1 ID: 203	adenylate kinase 1 [Homo sapiens (human)]	Chromosome 9, NC_000009.12 (127866480..127879621, complement)	CNSHA3, HTL-S-58j	103000
Select item 4939 OAS2 ID: 4939	2'-5'-oligoadenylate synthetase 2 [Homo sapiens (human)]	Chromosome 12, NC_000012.12 (112978519..113011723)		603350
Select item 6729 SRP54 ID: 6729	signal recognition particle 54 [Homo sapiens (human)]	Chromosome 14, NC_000014.9 (34982992..35029567)	SCN8	604857
Select item 25828 TXN2 ID: 25828	thioredoxin 2 [Homo sapiens (human)]	Chromosome 22, NC_000022.11 (36467046..36481640, complement)	COXPD29, MT-TRX, MTRX, TRX2, TXN	609063
Select item 63891 RNF123 ID: 63891	ring finger protein 123 [Homo sapiens (human)]	Chromosome 3, NC_000003.12 (49689557..49721529)	FP1477, KPC1	614472