Gene Map Search - 'kidney (Search in: Entries with: Genemap; Retrieve: gene map)'
Downloaded:	Apr 08, 2022
Copyright (c) 1966-2022 Johns Hopkins University OMIM, data are provided for research purposes only.

Cytogenetic location	Genomic coordinates (From NCBI/GRCh38)	Gene/Locus	Gene/Locus name	Gene/Locus MIM number	Approved Symbol	Entrez Gene ID	Ensembl Gene ID	Comments	Phenotype	Phenotype MIM number	Inheritance	Pheno map key	Mouse Gene (from MGI)
1p36.33	1:1211325-1216811	TNFRSF4, TXGP1L, OX40, ACT35, IMD16	Tumor necrosis factor receptor superfamily, member 4	600315	TNFRSF4	7293	ENSG00000186827,ENST00000379236.4	mutation identified in 1 IMD16 family	?Immunodeficiency 16	615593	Autosomal recessive	3	Tnfrsf4
1p36.33	1:1280435-1292024	SCNN1D	Sodium channel epithelial 1, subunit delta	601328	SCNN1D	6339	ENSG00000162572,ENST00000379116.10					
1p36.33	1:1324756-1328895	GLTPD1, CPTP	Glycolipid transfer protein domain-containing protein 1	615467	CPTP	80772	ENSG00000224051,ENST00000343938.9					Cptp
1p36.33	1:1335277-1349417	DVL1, DRS2	Dishevelled segment polarity protein 1	601365	DVL1	1855	ENSG00000107404,ENST00000378888.10		Robinow syndrome, autosomal dominant 2	616331	Autosomal dominant	3	Dvl1
1p36.33	1:1435689-1442881	VWA1, WARP, HMNMYO	von Willebrand factor A domain-containing protein 1	611901	VWA1	64856	ENSG00000179403,ENST00000476993.2		Neuropathy, hereditary motor, with myopathic features	619216	Autosomal recessive	3	Vwa1
1p36.33	1:1512142-1534685	ATAD3A, HAYOS, PHRINL	ATPase family, AAA domain-containing, member 3A	612316	ATAD3A	55210	ENSG00000197785,ENST00000378756.8		Harel-Yoon syndrome	617183	Autosomal dominant; Autosomal recessive	3	Atad3a
1p36.33	1:1512142-1534685	ATAD3A, HAYOS, PHRINL	ATPase family, AAA domain-containing, member 3A	612316	ATAD3A	55210	ENSG00000197785,ENST00000378756.8		Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	618810	Autosomal recessive	3	Atad3a
1p36.33	1:1541672-1574862	SSU72	Ssu72, S. cerevisiae, homolof of	617680	SSU72	29101	ENSG00000160075,ENST00000291386.4					Ssu72
1p36.33	1:1613729-1630604	MIB2	Mindbomb E3 ubiquitin protein ligase 2	611141	MIB2	142678	ENSG00000197530,ENST00000520777.6					Mib2
1p36.33	1:1751231-1780508	NADK	NAD kinase	611616	NADK	65220	ENSG00000008130,ENST00000341991.7					Nadk
1p36.33	1:2019344-2030757	GABRD, GEFSP5, EIG10, EJM7	Gamma-aminobutyric acid (GABA) A receptor, delta	137163	GABRD	2563	ENSG00000187730,ENST00000378585.7		{Epilepsy, idiopathic generalized, 10}	613060	Autosomal dominant	3	Gabrd
1p36.33	1:2019344-2030757	GABRD, GEFSP5, EIG10, EJM7	Gamma-aminobutyric acid (GABA) A receptor, delta	137163	GABRD	2563	ENSG00000187730,ENST00000378585.7		{Epilepsy, juvenile myoclonic, susceptibility to}	613060	Autosomal dominant	3	Gabrd
1p36.33	1:2019344-2030757	GABRD, GEFSP5, EIG10, EJM7	Gamma-aminobutyric acid (GABA) A receptor, delta	137163	GABRD	2563	ENSG00000187730,ENST00000378585.7		{Generalized epilepsy with febrile seizures plus, type 5, susceptibility to}	613060	Autosomal dominant	3	Gabrd
1p36.33	1:2050410-2185394	PRKCZ, PKC2	Protein kinase C, zeta form	176982	PRKCZ	5590	ENSG00000067606,ENST00000400921.6					Prkcz
1p36.32	1:3069202-3438620	PRDM16, MEL1, LVNC8, CMD1LL	PR domain-containing protein 16	605557	PRDM16	63976	ENSG00000142611,ENST00000270722.10		Cardiomyopathy, dilated, 1LL	615373	Autosomal dominant	3	Prdm16
1p36.32	1:3069202-3438620	PRDM16, MEL1, LVNC8, CMD1LL	PR domain-containing protein 16	605557	PRDM16	63976	ENSG00000142611,ENST00000270722.10		Left ventricular noncompaction 8	615373	Autosomal dominant	3	Prdm16
1p36.32	1:3625014-3630126	TPRG1L, FAM79A	Tumor protein p63 regulated 1-like	611460	TPRG1L	127262	ENSG00000158109,ENST00000378344.7					Tprgl
1p36.32	1:3812085-3857232	CEP104, GLYBP, KIAA0562, JBTS25	Centrosomal protein, 104kD	616690	CEP104	9731	ENSG00000116198,ENST00000378230.8		Joubert syndrome 25	616781	Autosomal recessive	3	Cep104
1p36.32	1:3857285-3885428	DFFB, CAD, DFF2	DNA fragmentation factor, 40kD, beta subunit	601883	DFFB	1677	ENSG00000169598,ENST00000338895.7					Dffb
1p36.31	1:5862809-5992424	NPHP4, SLSN4	Nephrocystin 4	607215	NPHP4	261734	ENSG00000131697,ENST00000478423.6		Nephronophthisis 4	606966	Autosomal recessive	3	Nphp4
1p36.31	1:5862809-5992424	NPHP4, SLSN4	Nephrocystin 4	607215	NPHP4	261734	ENSG00000131697,ENST00000478423.6		Senior-Loken syndrome 4	606996	Autosomal recessive	3	Nphp4
1p36.31	1:6221192-6235963	ICMT	Isoprenylcysteine carboxylmethyltransferase	605851	ICMT	23463	ENSG00000116237,ENST00000343813.10					Icmt
1p36.31	1:6424775-6461366	ESPN, USH1M	Espin	606351	ESPN	83715	ENSG00000187017,ENST00000645284.1	mutation identified in 1 USH1M family	?Usher syndrome, type 1M	618632	Autosomal recessive	3	Espn
1p36.31	1:6424775-6461366	ESPN, USH1M	Espin	606351	ESPN	83715	ENSG00000187017,ENST00000645284.1	mutation identified in 1 USH1M family	Deafness, autosomal recessive 36	609006	Autosomal recessive	3	Espn
1p36.31	1:6424775-6461366	ESPN, USH1M	Espin	606351	ESPN	83715	ENSG00000187017,ENST00000645284.1	mutation identified in 1 USH1M family	Deafness, neurosensory, without vestibular involvement, autosomal dominant	609006	Autosomal recessive	3	Espn
1p36.31	1:6460785-6466172	TNFRSF25, TNFRSF12, DR3, LARD	Tumor necrosis factor receptor superfamily, member 25	603366	TNFRSF25	8718	ENSG00000215788,ENST00000453341.1					Tnfrsf25
1p36.31	1:6466091-6520091	PLEKHG5, KIAA0720, DSMA4, CMTRIC	Pleckstrin homology domain- and RhoGEF domain-containing protein G5	611101	PLEKHG5	57449	ENSG00000171680,ENST00000400915.8		Charcot-Marie-Tooth disease, recessive intermediate C	615376	Autosomal recessive	3	Plekhg5
1p36.31	1:6466091-6520091	PLEKHG5, KIAA0720, DSMA4, CMTRIC	Pleckstrin homology domain- and RhoGEF domain-containing protein G5	611101	PLEKHG5	57449	ENSG00000171680,ENST00000400915.8		Spinal muscular atrophy, distal, autosomal recessive, 4	611067	Autosomal recessive	3	Plekhg5
1p36.23	1:7961710-7985504	DJ1, PARK7	Oncogene DJ-1	602533	PARK7	11315	ENSG00000116288,ENST00000493678.5		Parkinson disease 7, autosomal recessive early-onset	606324	Autosomal recessive	3	Park7
1p36.23	1:8011724-8026308	MIG6, RALT	Mitogen-inducible gene 6	608069	ERRFI1	54206	ENSG00000116285,ENST00000377482.10					Errfi1
1p36.23	1:8318113-8344166	SLC45A1, DNB5, IDDNPF	Solute carrier family 45, member 1	605763	SLC45A1	50651	ENSG00000162426,ENST00000471889.7		Intellectual developmental disorder with neuropsychiatric features	617532	Autosomal recessive	3	Slc45a1
1p36.23	1:8352403-8817639	RERE, NEDBEH	Arginine-glutamic acid dipeptide repeats	605226	RERE	473	ENSG00000142599,ENST00000400908.7		Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	616975	Autosomal dominant	3	Rere
1p36.23	1:8945867-8975091	CA6	Carbonic anhydrase VI	114780	CA6	765	ENSG00000131686,ENST00000377443.7					Car6
1p36.23	1:9035105-9072258	SLC2A5, GLUT5	Solute carrier family 2 (facilitated glucose transporter), member 5	138230	SLC2A5	6518	ENSG00000142583,ENST00000377414.7					Slc2a5
1p36.22	1:9292893-9369531	SPSB, SSB1	SPRY domain- and SOCS box-containing 1	611657	SPSB1	80176	ENSG00000171621,ENST00000328089.11					Spsb1
1p36.22	1:9539464-9585172	SLC25A33	Solute carrier family 25 (mitochondrial carrier), member 33	610816	SLC25A33	84275	ENSG00000171612,ENST00000302692.7					Slc25a33
1p36.22	1:9728925-9824525	CLSTN1, KIAA0911	Calsyntenin 1	611321	CLSTN1	22883	ENSG00000171603,ENST00000377298.9					Clstn1
1p36.22	1:9848275-9910321	CTNNBIP1, ICAT	Catenin, beta-interacting protein 1	607758	CTNNBIP1	56998	ENSG00000178585,ENST00000400904.7					Ctnnbip1
1p36.22	1:9922117-9943401	LZIC	Leucine zipper and CTNNBIP1 domains-containing protein	610458	LZIC	84328	ENSG00000162441,ENST00000377213.1					Lzic
1p36.22	1:9942922-9996883	NMNAT1, NMNAT, PNAT1, LCA9, SHILCA	Nicotinamide nucleotide adenylyltransferase 1	608700	NMNAT1	64802	ENSG00000173614,ENST00000403197.5		Leber congenital amaurosis 9	608553	Autosomal recessive	3	Nmnat1
1p36.22	1:9942922-9996883	NMNAT1, NMNAT, PNAT1, LCA9, SHILCA	Nicotinamide nucleotide adenylyltransferase 1	608700	NMNAT1	64802	ENSG00000173614,ENST00000403197.5		Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis	619260	Autosomal recessive	3	Nmnat1
1p36.22	1:9997227-10016020	RBP7, CRBP4	Retinol-binding protein 7	608604	RBP7	116362	ENSG00000162444,ENST00000294435.8					Rbp7
1p36.22	1:10032957-10181238	UBE4B, UFD2A, KIAA0684	Ubiquitination factor E4B	613565	UBE4B	10277	ENSG00000130939,ENST00000343090.11					Ube4b
1p36.22	1:11106534-11273496	MTOR, FRAP1, SKS	Mechanistic target of rapamycin	601231	MTOR	2475	ENSG00000198793,ENST00000361445.9		Focal cortical dysplasia, type II, somatic	607341		3	Mtor
1p36.22	1:11106534-11273496	MTOR, FRAP1, SKS	Mechanistic target of rapamycin	601231	MTOR	2475	ENSG00000198793,ENST00000361445.9		Smith-Kingsmore syndrome	616638	Autosomal dominant	3	Mtor
1p36.22	1:11654374-11663326	FBXO44, FBX44, FBX6A, FBG3	F-box protein 44	609111	FBXO44	93611	ENSG00000132879,ENST00000376770.5					Fbxo44
1p36.22	1:11736120-11750770	AGTRAP	Angiotensin II receptor-associated protein	608729	AGTRAP	57085	ENSG00000177674,ENST00000376629.8					Agtrap
1p36.22	1:11785722-11806102	MTHFR	Methylenetetrahydrofolate reductase	607093	MTHFR	4524	ENSG00000177000,ENST00000376583.7		Homocystinuria due to MTHFR deficiency	236250	Autosomal recessive	3	Mthfr
1p36.22	1:11785722-11806102	MTHFR	Methylenetetrahydrofolate reductase	607093	MTHFR	4524	ENSG00000177000,ENST00000376583.7		{Neural tube defects, susceptibility to}	601634	Autosomal recessive	3	Mthfr
1p36.22	1:11785722-11806102	MTHFR	Methylenetetrahydrofolate reductase	607093	MTHFR	4524	ENSG00000177000,ENST00000376583.7		{Schizophrenia, susceptibility to}	181500	Autosomal dominant	3	Mthfr
1p36.22	1:11785722-11806102	MTHFR	Methylenetetrahydrofolate reductase	607093	MTHFR	4524	ENSG00000177000,ENST00000376583.7		{Thromboembolism, susceptibility to}	188050	Autosomal dominant	3	Mthfr
1p36.22	1:11785722-11806102	MTHFR	Methylenetetrahydrofolate reductase	607093	MTHFR	4524	ENSG00000177000,ENST00000376583.7		{Vascular disease, susceptibility to}			3	Mthfr
1p36.22	1:11806190-11843129	CLCN6, CONRIBA	Chloride channel 6	602726	CLCN6	1185	ENSG00000011021,ENST00000312413.10		Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities	619173	Autosomal dominant	3	Clcn6
1p36.22	1:11980214-12013507	MFN2, KIAA0214, CMT2A2A, HMSN6A, CMT2A2B	Mitofusin 2	608507	MFN2	9927	ENSG00000116688,ENST00000674817.1		Charcot-Marie-Tooth disease, axonal, type 2A2A	609260	Autosomal dominant	3	Mfn2
1p36.22	1:11980214-12013507	MFN2, KIAA0214, CMT2A2A, HMSN6A, CMT2A2B	Mitofusin 2	608507	MFN2	9927	ENSG00000116688,ENST00000674817.1		Charcot-Marie-Tooth disease, axonal, type 2A2B	617087	Autosomal recessive	3	Mfn2
1p36.22	1:11980214-12013507	MFN2, KIAA0214, CMT2A2A, HMSN6A, CMT2A2B	Mitofusin 2	608507	MFN2	9927	ENSG00000116688,ENST00000674817.1		Hereditary motor and sensory neuropathy VIA	601152	Autosomal dominant	3	Mfn2
1p36.2	1:12500000-15900000	SCZD12	Schizophrenia 12	608543		619488		max lod at D1S1612	{Schizophrenia 12}	181500	Autosomal dominant	2	
1p36.21	1:12567909-12618209	DHRS3, RETSDR1	Short-chain dehydrogenase/reductase family, member 3	612830	DHRS3	9249	ENSG00000162496,ENST00000616661.5					Dhrs3
1p36.21	1:13583756-13617956	PDPN, TI1A, T1A2, GP36, OTS8, AGGRUS	Podoplanin	608863	PDPN	10630	ENSG00000162493,ENST00000487038.5					Pdpn
1p36.21	1:15409887-15430338	EFHD2, SWS1	EF-hand domain family, member D2	616450	EFHD2	79180	ENSG00000142634,ENST00000375980.9					Efhd2
1p36.21	1:15571698-15585050	AGMAT, AUH	Agmatinase	617887	AGMAT	79814	ENSG00000116771,ENST00000375826.4					Agmat
1p36.21	1:15659712-15662032	RSC1A1, RS1	Regulatory solute carrier protein, family 1, member 1	601966	RSC1A1	6248	ENSG00000215695,ENST00000345034.2					Rsc1a1
1p36.21	1:15756169-15786589	FBLIM1, FBLP1, MIGFILIN	Filamin-binding LIM protein 1	607747	FBLIM1	54751	ENSG00000162458,ENST00000441801.6					Fblim1
1p36.21-p36.13	1:15847706-15940455	SPEN, MINT, SHARP, HIAA0929, RATARS	Spen family transcriptional repressor	613484	SPEN	23013	ENSG00000065526,ENST00000375759.8		Radio-Tartaglia syndrome	619312	Autosomal dominant	3	Spen
1p36.13	1:16022035-16034049	CLCNKA	Chloride channel, kidney, A	602024	CLCNKA	1187	ENSG00000186510,ENST00000375692.5	11kb from CLCNKB; simultaneous mutation in CLCNKA and CLCNKB	Bartter syndrome, type 4b, digenic	613090	Digenic recessive	3	Clcnka
1p36.13	1:16043781-16057325	CLCNKB	Chloride channel, kidney, B	602023	CLCNKB	1188	ENSG00000184908,ENST00000375679.9	unequal crossingover with CLCNKA	Bartter syndrome, type 3	607364	Autosomal recessive	3	Clcnkb
1p36.13	1:16043781-16057325	CLCNKB	Chloride channel, kidney, B	602023	CLCNKB	1188	ENSG00000184908,ENST00000375679.9	unequal crossingover with CLCNKA	Bartter syndrome, type 4b, digenic	613090	Digenic recessive	3	Clcnkb
1p36.13	1:16124336-16156103	EPHA2, ECK, CTPP1, CTPA, ARCC2, CTRCT6	Ephrin receptor EphA2	176946	EPHA2	1969	ENSG00000142627,ENST00000358432.8		Cataract 6, multiple types	116600	Autosomal dominant	3	Epha2
1p36.13	1:16197853-16212699	ARHGEF19, WGEF	RHO guanine nucleotide exchange factor 19	612496	ARHGEF19	128272	ENSG00000142632,ENST00000270747.8					Arhgef19
1p36.13	1:16246839-16352479	FBXO42, FBX42, KIAA1332	F-box protein 42	609109	FBXO42	54455	ENSG00000037637,ENST00000375592.8					Fbxo42
1p36.13	1:16562322-16613563	NBPF1, KIAA1693	Neuroblastoma breakpoint family, member 1	610501	NBPF1	55672	ENSG00000219481,ENST00000430580.6	pseudogenes on 3 and 5				
1p36.13	1:16914081-16972978	CROCC, ROOTLETIN, KIAA0445	Ciliary rootlet coiled-coil protein	615776	CROCC	9696	ENSG00000058453,ENST00000375541.10					Crocc
1p36.13	1:17018721-17054031	SDHB, SDH2, SDHIP, PGL4, MC2DN4	Succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	185470	SDHB	6390	ENSG00000117118,ENST00000375499.8	1 of 2 polypeptides	Gastrointestinal stromal tumor	606764	Autosomal dominant; Isolated cases	3	Sdhb
1p36.13	1:17018721-17054031	SDHB, SDH2, SDHIP, PGL4, MC2DN4	Succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	185470	SDHB	6390	ENSG00000117118,ENST00000375499.8	1 of 2 polypeptides	Mitochondrial complex II deficiency, nuclear type 4	619224	Autosomal recessive	3	Sdhb
1p36.13	1:17018721-17054031	SDHB, SDH2, SDHIP, PGL4, MC2DN4	Succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	185470	SDHB	6390	ENSG00000117118,ENST00000375499.8	1 of 2 polypeptides	Paraganglioma and gastric stromal sarcoma	606864		3	Sdhb
1p36.13	1:17018721-17054031	SDHB, SDH2, SDHIP, PGL4, MC2DN4	Succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	185470	SDHB	6390	ENSG00000117118,ENST00000375499.8	1 of 2 polypeptides	Paragangliomas 4	115310	Autosomal dominant	3	Sdhb
1p36.13	1:17018721-17054031	SDHB, SDH2, SDHIP, PGL4, MC2DN4	Succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	185470	SDHB	6390	ENSG00000117118,ENST00000375499.8	1 of 2 polypeptides	Pheochromocytoma	171300	Autosomal dominant	3	Sdhb
1p36.13	1:17066760-17119452	PADI2	Peptidylarginine deiminase, type II	607935	PADI2	11240	ENSG00000117115,ENST00000375486.9					Padi2
1p36.13	1:17205124-17246006	PADI1	Peptidylarginine deiminase, type I	607934	PADI1	29943	ENSG00000142623,ENST00000375471.5					Padi1
1p36.13	1:17249078-17284232	PADI3, UHS1	Peptidylarginine deiminase, type III	606755	PADI3	51702	ENSG00000142619,ENST00000375460.3		Uncombable hair syndrome	191480	Autosomal recessive	3	Padi3
1p36.13	1:17372195-17401698	PADI6, PREMBL2	Peptidylarginine deiminase, type VI	610363	PADI6	353238	ENSG00000276747,ENST00000619609.1		Preimplantation embryonic lethality 2	617234	Autosomal recessive	3	Padi6
1p36.13	1:17513441-17697874	ARHGEF10L, GRINCHGEF, KIAA1626	RHO guanine nucleotide exchange factor 10-like protein	612494	ARHGEF10L	55160	ENSG00000074964,ENST00000375415.5					Arhgef10l
1p36.13	1:19274228-19289361	AKR7A3, AFAR2	Aldo-keto reductase family 7, member A3	608477	AKR7A3	22977	ENSG00000162482,ENST00000361640.5					Akr7a5
1p36.13	1:19920008-19923616	PLA2G2E	Secretory phospholipase A2, group IIE	618320	PLA2G2E	30814	ENSG00000188784,ENST00000375116.3					Pla2g2e
1p36.13	1:19975430-19980433	PLA2G2A, PLA2B, PLA2L, MOM1	Phospholipase A2, group IIA, platelets, synovial fluid	172411	PLA2G2A	5320	ENSG00000188257,ENST00000375111.7	germline mutation identified in 1 CRC patient	{?Colorectal cancer, susceptibility to}	114500	Autosomal dominant; Somatic mutation	3	Pla2g2a
1p36.12	1:20139322-20150385	PLA2G2F	Phospholipase A2, group IIf	616793	PLA2G2F	64600	ENSG00000158786,ENST00000375102.4					Pla2g2f
1p36.12	1:20482390-20486209	CAMK2N1	Calcium/calmodulin-dependent protein kinase II inhibitor 1	614986	CAMK2N1	55450	ENSG00000162545,ENST00000375078.4					Camk2n1
1p36.12	1:20499447-20508482	MUL1, MULAN, C1orf166	Mitochondrial ubiquitin ligase activator of NFKB1	612037	MUL1	79594	ENSG00000090432,ENST00000264198.5					Mul1
1p36.12	1:20651776-20661368	DDOST, OST, OST48, CDG1R	Dolichyl-diphosphooligosaccharide-protein glycosyltransferase	602202	DDOST	1650	ENSG00000244038,ENST00000602624.7	mutation (cmpd het) identified in 1 CDG1R patient	?Congenital disorder of glycosylation, type Ir	614507	Autosomal recessive	3	Ddost
1p36.12	1:21217249-21345503	ECE1	Endothelin converting enzyme 1	600423	ECE1	1889	ENSG00000117298,ENST00000357071.8	mutation identified in 1 HCAD patient	?Hirschsprung disease, cardiac defects, and autonomic dysfunction	613870	Autosomal dominant	3	Ece1
1p36.12	1:21217249-21345503	ECE1	Endothelin converting enzyme 1	600423	ECE1	1889	ENSG00000117298,ENST00000357071.8	mutation identified in 1 HCAD patient	{Hypertension, essential, susceptibility to}	145500	Multifactorial	3	Ece1
1p36.12	1:21508983-21578411	ALPL, HOPS, TNSALP, HPPA, HPPO, HPPI, HPPC	Alkaline phosphatase, liver/bone/kidney	171760	ALPL	249	ENSG00000162551,ENST00000374840.8		Hypophosphatasia, adult	146300	Autosomal dominant; Autosomal recessive	3	Alpl
1p36.12	1:21508983-21578411	ALPL, HOPS, TNSALP, HPPA, HPPO, HPPI, HPPC	Alkaline phosphatase, liver/bone/kidney	171760	ALPL	249	ENSG00000162551,ENST00000374840.8		Hypophosphatasia, childhood	241510	Autosomal recessive	3	Alpl
1p36.12	1:21508983-21578411	ALPL, HOPS, TNSALP, HPPA, HPPO, HPPI, HPPC	Alkaline phosphatase, liver/bone/kidney	171760	ALPL	249	ENSG00000162551,ENST00000374840.8		Hypophosphatasia, infantile	241500	Autosomal recessive	3	Alpl
1p36.12	1:21508983-21578411	ALPL, HOPS, TNSALP, HPPA, HPPO, HPPI, HPPC	Alkaline phosphatase, liver/bone/kidney	171760	ALPL	249	ENSG00000162551,ENST00000374840.8		Odontohypophosphatasia	146300	Autosomal dominant; Autosomal recessive	3	Alpl
1p36.12	1:22052708-22101359	CDC42, TKS	Cell division cycle 42 (GTP-binding protein, 25kD)	116952	CDC42	998	ENSG00000070831,ENST00000344548.7		Takenouchi-Kosaki syndrome	616737	Autosomal dominant	3	Cdc42
1p36.12	1:22117307-22143980	WNT4, SERKAL	Wingless-type MMTV integration site family, member 4	603490	WNT4	54361	ENSG00000162552,ENST00000290167.11	mutation identified in 1 SERKAL family	?SERKAL syndrome	611812	Autosomal recessive	3	Wnt4
1p36.12	1:22117307-22143980	WNT4, SERKAL	Wingless-type MMTV integration site family, member 4	603490	WNT4	54361	ENSG00000162552,ENST00000290167.11	mutation identified in 1 SERKAL family	Mullerian aplasia and hyperandrogenism	158330	Autosomal dominant	3	Wnt4
1p36.12	1:22636462-22639677	C1QA	Complement component 1, q subcomponent, A chain	120550	C1QA	712	ENSG00000173372,ENST00000402322.1		C1q deficiency	613652	Autosomal recessive	3	C1qa
1p36.12	1:22643632-22648107	C1QC, C1QG	Complement component 1, q subcomponent, C chain	120575	C1QC	714	ENSG00000159189,ENST00000374639.7		C1q deficiency	613652	Autosomal recessive	3	C1qc
1p36.12	1:22653235-22661636	C1QB	Complement component 1, q subcomponent, B chain	120570	C1QB	713	ENSG00000173369,ENST00000432749.6		C1q deficiency	613652	Autosomal recessive	3	C1qb
1p36.12	1:22710769-22921499	EPHB2, EPHT3, DRT, ERK, PCBC, CAPB, BDPLT22	eph tyrosine kinase 3 (ephrin receptor EphB2)	600997	EPHB2	2048	ENSG00000133216,ENST00000400191.7	mutation identified in 1 BDPLT22 family	?Bleeding disorder, platelet-type, 22	618462	Autosomal recessive	3	Ephb2
1p36.12	1:22710769-22921499	EPHB2, EPHT3, DRT, ERK, PCBC, CAPB, BDPLT22	eph tyrosine kinase 3 (ephrin receptor EphB2)	600997	EPHB2	2048	ENSG00000133216,ENST00000400191.7	mutation identified in 1 BDPLT22 family	{Prostate cancer/brain cancer susceptibility, somatic}	603688		3	Ephb2
1p36.12	1:23019442-23083690	KDM1A, LSD1, AOF2, BHC110, KIAA0601, CPRF	Lysine demethylase 1A	609132	KDM1A	23028	ENSG00000004487,ENST00000400181.9		Cleft palate, psychomotor retardation, and distinctive facial features	616728	Autosomal dominant	3	Kdm1a
1p36.12	1:23557925-23559500	ID3	Inhibitor of DNA binding 3, dominant negative, helix-loop-helix protein	600277	ID3	3399	ENSG00000117318,ENST00000374561.6					Id3
1p36.11	1:23627333-23640567	MDS2	Myelodysplasia syndrome gene 2	607305	MDS2	259283	ENSG00000197880,ENST00000374555.7	fused with ETV6 in myelodysplastic syndrome				
1p36.11	1:23691778-23696834	RPL11, DBA7	Ribosomal protein L11	604175	RPL11	6135	ENSG00000142676,ENST00000643754.2		Diamond-Blackfan anemia 7	612562	Autosomal dominant	3	Gm10036,Rpl11
1p36.11	1:23870514-23913361	CNR2, CB2, CX5	Cannabinoid receptor 2	605051	CNR2	1269	ENSG00000188822,ENST00000374472.5					Cnr2
1p36.11	1:23959163-23963461	PNRC2	Proline-rich nuclear receptor coactivator 2	611882	PNRC2	55629	ENSG00000189266,ENST00000334351.8					Pnrc2
1p36.11	1:24319332-24364481	GRHL3, SOM, TFCP2L4, VWS2	Grainyhead-like 3	608317	GRHL3	57822	ENSG00000158055,ENST00000356046.6		van der Woude syndrome 2	606713	Autosomal dominant	3	Grhl3
1p36.11	1:24502343-24541039	RCAN3, DSCR1L2, MCIP3	Regulator of calcineurin 3	605860	RCAN3	11123	ENSG00000117602,ENST00000538532.6					Rcan3
1p36.11	1:24745446-24844320	CLIC4, MTCLIC	Chloride intracellular channel 4	606536	CLIC4	25932	ENSG00000169504,ENST00000374379.9					Clic4
1p36.11	1:25222275-25232501	SYF2, P29	SYF2 pre-mRNA splicing factor	607090	SYF2	25949	ENSG00000117614,ENST00000236273.9					Syf2
1p36.11	1:25360658-25430192	RHCE, RHNA	Rhesus system C and E polypeptides	111700	RHCE	6006	ENSG00000188672,ENST00000413854.5		Rh-null disease, amorph type	617970		3	Rhd
1p36.11	1:25430896-25500208	TMEM57, FLJ10747	Transmembrane protein 57	610301	MACO1	55219	ENSG00000204178,ENST00000399766.7					Maco1
1p36.11	1:25543587-25590399	LDLRAP1, ARH, FHCB2, FHCB1, FHCL4	Low density lipoprotein receptor adaptor protein 1	605747	LDLRAP1	26119	ENSG00000157978,ENST00000374338.5		Hypercholesterolemia, familial, 4	603813	Autosomal recessive	3	Ldlrap1
1p36.11	1:25861483-25876706	PAQR7, MPRA, PGLP	Progestin and ADIPOQ receptor family, member 7	607779	PAQR7	164091	ENSG00000182749,ENST00000675840.1					Paqr7
1p36.11	1:25884178-25906879	STMN1, LAP18, SMN	Stathmin	151442	STMN1	3925	ENSG00000117632,ENST00000426559.6					Stmn1
1p36.11	1:26037251-26046117	SLC30A2, ZNT2, TNZD	Solute carrier family 30 (zinc transporter), member 2	609617	SLC30A2	7780	ENSG00000158014,ENST00000374276.4		Zinc deficiency, transient neonatal	608118	Autosomal dominant	3	Slc30a2
1p36.11	1:26111161-26125554	PDIK1L	PDLIM1-interacting kinase 1-like	610785	PDIK1L	149420	ENSG00000175087,ENST00000619836.4					Pdik1l
1p36.11	1:26361631-26374535	ZNF683, HOBIT	Zinc finger protein 683	616775	ZNF683	257101	ENSG00000176083,ENST00000349618.8					Zfp683
1p36.11	1:26432320-26471305	DHDDS, HDS, RP59, DEDSM	Dehydrodolichyl diphosphate synthase	608172	DHDDS	79947	ENSG00000117682,ENST00000525682.6	mutation identified in 1 CDG1BB patient	?Congenital disorder of glycosylation, type 1bb	613861	Autosomal recessive	3	Dhdds
1p36.11	1:26432320-26471305	DHDDS, HDS, RP59, DEDSM	Dehydrodolichyl diphosphate synthase	608172	DHDDS	79947	ENSG00000117682,ENST00000525682.6	mutation identified in 1 CDG1BB patient	Developmental delay and seizures with or without movement abnormalities	617836	Autosomal dominant	3	Dhdds
1p36.11	1:26432320-26471305	DHDDS, HDS, RP59, DEDSM	Dehydrodolichyl diphosphate synthase	608172	DHDDS	79947	ENSG00000117682,ENST00000525682.6	mutation identified in 1 CDG1BB patient	Retinitis pigmentosa 59	613861	Autosomal recessive	3	Dhdds
1p36.11	1:26993662-27000890	TRNP1	TMF1-regulated nuclear protein 1	616824	TRNP1	388610	ENSG00000253368,ENST00000522111.3					Trnp1
1p36.11	1:27392621-27395813	GPR3	G protein-coupled receptor-3	600241	GPR3	2827	ENSG00000181773,ENST00000374024.4					Gpr3
1p35.3	1:27773218-27824442	STX12, STX13	Syntaxin 12	606892	STX12	23673	ENSG00000117758,ENST00000373943.9					Stx12
1p35.3	1:27934954-27959151	SMPDL3B, ASML3B	Sphingolyelin phosphodiesterase, acid-like, 3B	617737	SMPDL3B	27293	ENSG00000130768,ENST00000373888.8					Smpdl3b
1p35.3	1:28147165-28193855	PTAFR	Platelet-activating factor receptor	173393	PTAFR	5724	ENSG00000169403,ENST00000373857.8					Ptafr
1p35.3	1:28369739-28500363	PHACTR4	Phosphatase and actin regulator 4	608726	PHACTR4	65979	ENSG00000204138,ENST00000373839.8					Phactr4
1p35.3	1:29192656-29230947	MECR, NRBF1, DYTOABG	Mitochondrial trans-2-enoyl-CoA reductase	608205	MECR	51102	ENSG00000116353,ENST00000373791.7		Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	617282	Autosomal recessive	3	Mecr
1p35.2	1:31297031-31365721	ZCCHC17, PS1D	Zinc finger CCHC domain-containing protein 17	619744	ZCCHC17	51538	ENSG00000121766,ENST00000615916.4					Zcchc17
1p35.2	1:31409776-31434677	SERINC2	Serine incorporator 2	614549	SERINC2	347735	ENSG00000168528,ENST00000536859.5					Serinc2
1p35.2	1:31576383-31587685	TINAGL1, TINAGRP	Tubulointerstitial nephritis antigen-like protein 1	616064	TINAGL1	64129	ENSG00000142910,ENST00000457433.6					Tinagl1
1p35.2	1:31617688-31632517	HCRTR1, OX1R	Hypocretin receptor 1	602392	HCRTR1	3061	ENSG00000121764,ENST00000403528.7					Hcrtr1
1p35.2	1:32013867-32060849	KHDRBS1, SAM68	KH domain-containing, RNA-binding, signal transduction-associated protein 1	602489	KHDRBS1	10657	ENSG00000121774,ENST00000492989.1					Khdrbs1
1p35.2	1:32200594-32205386	CCDC28B, MGC1203	Coiled-coil domain-containing protein 28B	610162	CCDC28B	79140	ENSG00000160050,ENST00000421922.6		{Bardet-Biedl syndrome 1, modifier of}	209900	Autosomal recessive; Digenic recessive	3	Ccdc28b
1p35.1	1:32932497-32965265	IBRDC3, NKLAM	IBR domain-containing protein 3	610872	RNF19B	127544	ENSG00000116514,ENST00000356990.9					Rnf19b
1p35.1	1:33007939-33036882	AK2	Adenylate kinase-2, mitochondrial	103020	AK2	204	ENSG00000004455,ENST00000467905.5		Reticular dysgenesis	267500	Autosomal recessive	3	Ak2
1p35.1	1:33081151-33162287	AZIN2, ODC1L, KIAA1945	Antizyme inhibitor 2	608353	AZIN2	113451	ENSG00000142920,ENST00000373443.7					Azin2
1p35.1	1:33145398-33184773	TRIM62, DEAR1	Tripartite motif-containing protein 62	616755	TRIM62	55223	ENSG00000116525,ENST00000543586.1					Trim62
1p35.1	1:33860474-33864790	HMGB4	High mobility group box 4	617285	HMGB4	127540	ENSG00000176256,ENST00000425537.1					Hmgb4
1p34.3	1:34986164-35031944	ZMYM6, ZNF258	Zinc finger, MYM-type 6	613567	ZMYM6	9204	ENSG00000163867,ENST00000357182.9					Zmym6
1p34.3	1:35268693-35422057	ZMYM4, ZNF262, KIAA0425	Zinc finger, MYM-type 4	613568	ZMYM4	9202	ENSG00000146463,ENST00000457946.1					Zmym4
1p34.3	1:35557798-35566778	NCDN, KIAA0607, NEDIES	Neurochondrin	608458	NCDN	23154	ENSG00000020129,ENST00000356090.8		Neurodevelopmental disorder with infantile epileptic spasms	619373	Autosomal dominant	3	Ncdn
1p34.3	1:35869760-35930531	AGO1, EIF2C1, GERP95, EIF2C	Argonaute RISC component 1	606228	AGO1	26523	ENSG00000092847,ENST00000674426.1					Ago1
1p34.3	1:36084093-36088274	TEKT2, TEKTB1	Tektin 2	608953	TEKT2	27285	ENSG00000092850,ENST00000207457.8					Tekt2
1p34.3	1:36136571-36156052	TRAPPC3, BET3	Trafficking protein particle complex, subunit 3	610955	TRAPPC3	27095	ENSG00000054116,ENST00000616395.4					Trappc3
1p34.3	1:36339627-36385923	STK40, SHIK	Serine/threonine protein kinase 40	609437	STK40	83931	ENSG00000196182,ENST00000373130.7					Stk40
1p34.3	1:37534448-37554292	SNIP1, NEDHCS	SMAD nuclear interacting protein 1	608241	SNIP1	79753	ENSG00000163877,ENST00000296215.8		Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures	614501	Autosomal recessive	3	Snip1
1p34.3	1:37802944-37808207	YRDC, IRIP, GAMOS10	YRDC domain-containing protein	612276	YRDC	79693	ENSG00000196449,ENST00000373044.3		Galloway-Mowat syndrome 10	619609	Autosomal recessive	3	Yrdc
1p34.3	1:37996769-38005513	FHL3, SLIM2	Four-and-a-half LIM domains-3	602790	FHL3	2275	ENSG00000183386,ENST00000485803.5					Fhl3
1p34.3	1:38838197-38859771	RRAGC, RAGC	RAS-related GTP-binding protein C	608267	RRAGC	64121	ENSG00000116954,ENST00000373001.4					Rragc
1p34.3	1:38862489-38873377	MYCBP	MYC-binding protein	606535	MYCBP	26292	ENSG00000214114,ENST00000397572.5					Mycbp
1p34.3	1:38885806-38941829	RHBDL2	Rhomboid-like 2	608962	RHBDL2	54933	ENSG00000158315,ENST00000372990.6					Rhbdl2
1p34.3	1:39084166-39487137	MACF1, ACF7, KIAA1251, LIS9	Microtubule-actin cross-linking factor 1	608271	MACF1	23499	ENSG00000127603,ENST00000564288.6		Lissencephaly 9 with complex brainstem malformation	618325	Autosomal dominant	3	Macf1
1p34.2	1:39623434-39639642	HEYL	HES-related bHLH transcription factor with YRPW motif-like protein	609034	HEYL	26508	ENSG00000163909,ENST00000372852.4					Heyl
1p34.2	1:39651228-39672106	NT5C1A, CN1A, CNI, CN1	5'-nucleotidase, cytosolic, IA	610525	NT5C1A	84618	ENSG00000116981,ENST00000235628.2					Nt5c1a
1p34.2	1:39757181-39788864	BMP8B, OP2	Bone morphogenetic protein-8b (osteogenic protein 2)	602284	BMP8B	656	ENSG00000116985,ENST00000372827.8					Bmp8a,Bmp8b
1p34.2	1:39838109-39883510	TRIT1, IPT, COXPD35	tRNA isopentenyltransferase 1	617840	TRIT1	54802	ENSG00000043514,ENST00000372818.5		Combined oxidative phosphorylation deficiency 35	617873	Autosomal recessive	3	Trit1
1p34.2	1:39955144-39969955	MFSD2A, NEDMISBA	Major facilitator superfamily domain-containing protein 2A	614397	MFSD2A	84879	ENSG00000168389,ENST00000372809.5		Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities	616486	Autosomal recessive	3	Mfsd2a
1p34.2	1:40258077-40294179	ZMPSTE24, FACE1, STE24, MADB, RSDM1	Zinc metalloproteinase STE24	606480	ZMPSTE24	10269	ENSG00000084073,ENST00000372759.4		Mandibuloacral dysplasia with type B lipodystrophy	608612	Autosomal recessive	3	Zmpste24
1p34.2	1:40258077-40294179	ZMPSTE24, FACE1, STE24, MADB, RSDM1	Zinc metalloproteinase STE24	606480	ZMPSTE24	10269	ENSG00000084073,ENST00000372759.4		Restrictive dermopathy 1	275210	Autosomal recessive	3	Zmpste24
1p34.2	1:41027201-41242305	SCMH1	Scm polycomb group protein homolog 1	616396	SCMH1	22955	ENSG00000010803,ENST00000326197.11					Scmh1
1p34.2	1:42153409-42155819	GUCA2B, UGN	Guanylate cyclase activator 2B (uroguanylin)	601271	GUCA2B	2981	ENSG00000044012,ENST00000372581.2					Guca2b
1p34.2	1:42733092-42740235	CLDN19, HOMG5	Claudin 19	610036	CLDN19	149461	ENSG00000164007,ENST00000372539.3		Hypomagnesemia 5, renal, with ocular involvement	248190	Autosomal recessive	3	Cldn19
1p34.2	1:42807051-42817396	SVBP, CCDC23, NEDAHM	Small vasohibin-binding protein	617853	SVBP	374969	ENSG00000177868,ENST00000372521.9		Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly	618569	Autosomal recessive	3	Svbp
1p34.2	1:42817121-42844990	ERMAP, SC, RD	Erythroblast membrane-associated protein	609017	ERMAP	114625	ENSG00000164010,ENST00000372517.8		[Blood group, Radin]	111620		3	Ermap
1p34.2	1:42817121-42844990	ERMAP, SC, RD	Erythroblast membrane-associated protein	609017	ERMAP	114625	ENSG00000164010,ENST00000372517.8		[Blood group, Scianna system]	111750		3	Ermap
1p34.2	1:43172329-43254357	CFAP57, WDR65	Cilia- and flagella-associated protein 57	614259	CFAP57	149465	ENSG00000243710,ENST00000610710.4					Cfap57
1p34.2	1:43363400-43368010	ELOVL1, SSC1, IKSHD	Elongation of very long chain fatty acids-like 1	611813	ELOVL1	64834	ENSG00000066322,ENST00000621943.4		Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies	618527	Autosomal dominant	3	Elovl1
1p34.2	1:43389883-43454246	SZT2, KIAA0467, DEE18	SZT2 subunit of KICSTOR complex	615463	SZT2	23334	ENSG00000198198,ENST00000634258.3		Developmental and epileptic encephalopathy 18	615476	Autosomal recessive	3	Szt2
1p34.2	1:43522237-43623665	PTPRF, LAR, BNAH2	Protein tyrosine phosphatase, receptor type, f polypeptide	179590	PTPRF	5792	ENSG00000142949,ENST00000359947.9	mutation identified in 1 BNAH2 family	?Breasts and/or nipples, aplasia or hypoplasia of, 2	616001	Autosomal recessive	3	Ptprf
1p34.1	1:44221069-44355297	PRNPIP, PINT1	Prion protein-interacting protein	609917	ERI3	79033	ENSG00000117419,ENST00000372257.7					Eri3
1p34.1	1:44653246-44674480	TMEM53, NET4, CTDI	Transmembrane protein 53	619722	TMEM53	79639	ENSG00000126106,ENST00000476724.1		Craniotubular dysplasia, Ikegawa type	619727	Autosomal recessive	3	Tmem53
1p34.1	1:44739703-44767766	KIF2C, KNSL6, MCAK	Kinesin family, member 2C	604538	KIF2C	11004	ENSG00000142945,ENST00000372217.5					Kif2c
1p34.1	1:44850521-44986640	EIF2B3	Eukaryotic translation initiation factor 2B, subunit 3	606273	EIF2B3	8891	ENSG00000070785,ENST00000372183.7		Leukoencephalopathy with vanishing white matter	603896	Autosomal recessive	3	Eif2b3
1p34.1	1:45339750-45343972	TOE1, PCH7	Target of EGR1	613931	TOE1	114034	ENSG00000132773,ENST00000372090.6		Pontocerebellar hypoplasia, type 7	614969	Autosomal recessive	3	Toe1
1p34.1	1:45500228-45513381	MMACHC	Metabolism of cobalamin associated C	609831	MMACHC	25974	ENSG00000132763,ENST00000616135.1		Methylmalonic aciduria and homocystinuria, cblC type	277400	Autosomal recessive	3	Mmachc
1p34.1	1:45511050-45522889	PRDX1, PRXI, PAGA, NKEFA	Peroxiredoxin 1	176763	PRDX1	5052	ENSG00000117450,ENST00000424390.2	pseudogene PAGB on 9p22	Methylmalonic aciduria and homocystinuria, cblC type, digenic	277400	Autosomal recessive	3	Prdx1
1p34.1	1:45550778-45570050	AKR1A1, ALR	Aldo-keto reductase family 1, member A1 (aldehyde reductase)	103830	AKR1A1	10327	ENSG00000117448,ENST00000621846.4					Akr1a1
1p34.1	1:45786991-46036123	MAST2, MAST205, KIAA0807	Microtubule-associated serine/threonine kinase 2	612257	MAST2	23139	ENSG00000086015,ENST00000361297.7					Mast2
1p33	1:46433826-46445701	FAAHP1, FAAHOUT, LINC00505	Fatty acid amide hydrolase pseudogene 1	618375	FAAHP1	729041						
1p33	1:46545640-46551646	KNCN, KINO, L5	Kinocilin	611455	KNCN	148930	ENSG00000162456,ENST00000396314.3					Kncn
1p33	1:46929176-46941475	CYP4A11	Cytochrome P450, subfamily IVA, polypeptide 11	601310	CYP4A11	1579	ENSG00000187048,ENST00000310638.9					Cyp4a10,Cyp4a12a,Cyp4a12b,Cyp4a14,Cyp4a29,Cyp4a30b,Cyp4a31,Cyp4a32
1p33	1:46961363-47055431	CYP4X1, CYPIVX1	Cytochrome P450, family 4, subfamily X, polypeptide 1	614999	CYP4X1	260293	ENSG00000186377,ENST00000371901.4					Cyp4x1
1p33	1:47137440-47149737	CYP4A22	Cytochrome P450, family 4, subfamily A, polypeptide 22	615341	CYP4A22	284541	ENSG00000162365,ENST00000371891.8					Cyp4a10,Cyp4a12a,Cyp4a12b,Cyp4a14,Cyp4a29,Cyp4a30b,Cyp4a31,Cyp4a32
1p33	1:47183581-47190035	PDZK1IP1, MAP17	PDZK1-interacting protein 1	607178	PDZK1IP1	10158	ENSG00000162366,ENST00000294338.7	near SLC in human, mouse, chicken, zebrafish				Pdzk1ip1
1p33	1:47216289-47232388	TAL1, TCL5, SCL	T-cell acute lymphocytic leukemia-1	187040	TAL1	6886	ENSG00000162367,ENST00000371884.6	proximal to MYCL1	Leukemia, T-cell acute lymphocytic, somatic	613065		3	Tal1
1p33	1:47416284-47418051	FOXE3, FKHL12, ASMD, CTRCT34, ASGD2, AAT11	Forkhead box E3	601094	FOXE3	2301	ENSG00000186790,ENST00000335071.4		Anterior segment dysgenesis 2, multiple subtypes	610256	Autosomal recessive	3	Foxe3
1p33	1:47416284-47418051	FOXE3, FKHL12, ASMD, CTRCT34, ASGD2, AAT11	Forkhead box E3	601094	FOXE3	2301	ENSG00000186790,ENST00000335071.4		Cataract 34, multiple types	612968		3	Foxe3
1p33	1:47416284-47418051	FOXE3, FKHL12, ASMD, CTRCT34, ASGD2, AAT11	Forkhead box E3	601094	FOXE3	2301	ENSG00000186790,ENST00000335071.4		{Aortic aneurysm, familial thoracic 11, susceptibility to}	617349	Autosomal dominant	3	Foxe3
1p33	1:47438043-47440690	FOXD2, FKHL17, FREAC9	Forkhead box D2	602211	FOXD2	2306	ENSG00000186564,ENST00000334793.6					Foxd2
1p32.3	1:50437027-50960266	FAF1, HFAF1	Fas-associated factor 1	604460	FAF1	11124	ENSG00000185104,ENST00000396153.7					Faf1
1p32.3	1:51236272-51273446	RNF11	Ring finger protein 11	612598	RNF11	26994	ENSG00000123091,ENST00000242719.4					Rnf11
1p32.3	1:51617083-51789218	OSBPL9, ORP9	Oxysterol-binding protein-like protein 9	606737	OSBPL9	114883	ENSG00000117859,ENST00000531828.5					Osbpl9
1p32.3	1:51907955-51990699	RAB3B	Brain antigen RAB3B	179510	RAB3B	5865	ENSG00000169213,ENST00000371655.4					Rab3b
1p32.3	1:53062197-53085501	PODN	Podocan	608661	PODN	127435	ENSG00000174348,ENST00000312553.10					Podn
1p32.3	1:53196823-53214196	CPT2, IIAE4	Carnitine palmitoyltransferase II	600650	CPT2	1376	ENSG00000157184,ENST00000371486.4	formerly at 1p13	CPT II deficiency, infantile	600649	Autosomal recessive	3	Cpt2
1p32.3	1:53196823-53214196	CPT2, IIAE4	Carnitine palmitoyltransferase II	600650	CPT2	1376	ENSG00000157184,ENST00000371486.4	formerly at 1p13	CPT II deficiency, lethal neonatal	608836	Autosomal recessive	3	Cpt2
1p32.3	1:53196823-53214196	CPT2, IIAE4	Carnitine palmitoyltransferase II	600650	CPT2	1376	ENSG00000157184,ENST00000371486.4	formerly at 1p13	CPT II deficiency, myopathic, stress-induced	255110	Autosomal dominant; Autosomal recessive	3	Cpt2
1p32.3	1:53196823-53214196	CPT2, IIAE4	Carnitine palmitoyltransferase II	600650	CPT2	1376	ENSG00000157184,ENST00000371486.4	formerly at 1p13	{Encephalopathy, acute, infection-induced, 4, susceptibility to}	614212	Autosomal dominant; Autosomal recessive	3	Cpt2
1p32.3	1:53506236-53739170	GLIS1	Glis family zinc finger protein 1	610378	GLIS1	148979	ENSG00000174332,ENST00000628545.2					Glis1
1p32.3	1:53894186-53911085	DIO1, TXDI1	Deiodinase, iodothyronine, type I	147892	DIO1	1733	ENSG00000211452,ENST00000361921.8					Dio1
1p32.3	1:54548227-54639191	ACOT11, THEA, BFIT, BFIT1, BFIT2, KIAA0707	Acyl-CoA thioesterase 11	606803	ACOT11	26027	ENSG00000162390,ENST00000371316.3					Acot11
1p32.3	1:54849626-54887194	DHCR24, KIAA0018	24-dehydrocholesterol reductase	606418	DHCR24	1718	ENSG00000116133,ENST00000371269.9		Desmosterolosis	602398	Autosomal recessive	3	Dhcr24
1p32.3	1:54998932-55017171	BSND	Barttin	606412	BSND	7809	ENSG00000162399,ENST00000651561.1		Bartter syndrome, type 4a	602522	Autosomal recessive	3	Bsnd
1p32.3	1:54998932-55017171	BSND	Barttin	606412	BSND	7809	ENSG00000162399,ENST00000651561.1		Sensorineural deafness with mild renal dysfunction	602522	Autosomal recessive	3	Bsnd
1p32.3	1:55039547-55064851	PCSK9, NARC1, HCHOLA3, FH3, LDLCQ1, FHCL3	Proprotein convertase, subtilisin/kexin-type, 9	607786	PCSK9	255738	ENSG00000169174,ENST00000302118.5		Hypercholesterolemia, familial, 3	603776	Autosomal dominant	3	Pcsk9
1p32.3	1:55039547-55064851	PCSK9, NARC1, HCHOLA3, FH3, LDLCQ1, FHCL3	Proprotein convertase, subtilisin/kexin-type, 9	607786	PCSK9	255738	ENSG00000169174,ENST00000302118.5		{Low density lipoprotein cholesterol level QTL 1}	603776	Autosomal dominant	3	Pcsk9
1p32.3	1:55066358-55215373	USP24, KIAA1057	Ubiquitin-specific protease 24	610569	USP24	23358	ENSG00000162402,ENST00000294383.7					Usp24
1p32.2	1:56494760-56579562	PLPP3, PPAP2B	Phospholipid phosphatase 3	607125	PLPP3	8613	ENSG00000162407,ENST00000371250.4					Plpp3
1p32.2	1:56718788-56831985	FYB2, ARAP, C1orf168	FYN-binding protein 2	618478	FYB2	199920	ENSG00000187889,ENST00000343433.7					Fyb2
1p32.2-p32.1	1:56994777-58546725	DAB1, SCA37	DAB adaptor protein 1	603448	DAB1	1600	ENSG00000173406,ENST00000371236.7		Spinocerebellar ataxia 37	615945	Autosomal dominant	3	Dab1
1p32.2-p32.1	1:58480718-58546725	OMA1, MPRP1	OMA1 zinc metallopeptidase	617081	OMA1	115209	ENSG00000162600,ENST00000371226.8					Oma1
1p32.1	1:58575432-58577251	TACSTD2, TROP2, M1S1	Tumor-associated calcium signal transducer 2	137290	TACSTD2	4070	ENSG00000184292,ENST00000371225.4		Corneal dystrophy, gelatinous drop-like	204870	Autosomal recessive	3	Tacstd2
1p32.1	1:58654738-58700090	MYSM1, 2ADUB, KIAA1915, BMFS4	MYB-like, SWIRM, and MPN domains-containing protein 1	612176	MYSM1	114803	ENSG00000162601,ENST00000472487.6		Bone marrow failure syndrome 4	618116	Autosomal recessive	3	Mysm1
1p32.1	1:59296404-59762729	FGGY, FLJ10986	FGGY carbohydrate kinase domain-containing protein	611370	FGGY	55277	ENSG00000172456,ENST00000371218.8					Fggy
1p32.1	1:59893307-59926772	CYP2J2	Cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase), polypeptide 2	601258	CYP2J2	1573	ENSG00000134716,ENST00000371204.4					Cyp2j11,Cyp2j12,Cyp2j13,Cyp2j5,Cyp2j6,Cyp2j8,Cyp2j9
1p31.3	1:61077226-61462787	NFIA, BRMUTD	Nuclear factor I/A	600727	NFIA	4774	ENSG00000162599,ENST00000403491.8		Brain malformations with or without urinary tract defects	613735	Autosomal dominant	3	Nfia
1p31.3	1:61742476-62163914	PATJ, INADL	PALS1-associated tight junction protein	603199	PATJ	10207	ENSG00000132849,ENST00000642238.2					Patj
1p31.3	1:62236164-62319433	KANK4	KN motif- and ankyrin repeat domain-containing protein 4	614612	KANK4	163782	ENSG00000132854,ENST00000354381.3					Kank4
1p31.3	1:62597519-62606312	ANGPTL3, ANGPT5, FHBL2	Angiopoietin-like 3	604774	ANGPTL3	27329	ENSG00000132855,ENST00000371129.4		Hypobetalipoproteinemia, familial, 2	605019	Autosomal recessive	3	Angptl3
1p31.3	1:63322566-63325127	FOXD3, AIS1, VAMAS2	Forkhead box D3	611539	FOXD3	27022	ENSG00000187140,ENST00000371116.4		{Autoimmune disease, susceptibility to, 1}	607836	Autosomal dominant	3	Foxd3
1p31.3	1:63367626-63438552	ALG6, CDG1C	ALG6 alpha-1,3-glucosyltransferase	604566	ALG6	29929	ENSG00000088035,ENST00000263440.6		Congenital disorder of glycosylation, type Ic	603147	Autosomal recessive	3	Alg6
1p31.3	1:63774016-64181497	ROR1, NTRKR1	Receptor tyrosine kinase-like orphan receptor 1	602336	ROR1	4919	ENSG00000185483,ENST00000371080.5	mutation identified in 1 DFNB108 family	?Deafness, autosomal recessive 108	617654	Autosomal recessive	3	Ror1
1p31.3	1:64744978-64833410	RAVER2, KIAA1579	Ribonucleoprotein, PTB binding 2	609953	RAVER2	55225	ENSG00000162437,ENST00000294428.7					Raver2
1p31.3	1:64833228-65067745	JAK1, AIIDE	Janus kinase 1 (a protein-tyrosine kinase)	147795	JAK1	3716	ENSG00000162434,ENST00000671929.1	related gene on 9p24	Autoinflammation, immune dysregulation, and eosinophilia	618999	Autosomal dominant	3	Jak1
1p31.3	1:65147341-65232144	AK4, AK3	Adenylate kinase 4	103030	AK4	205	ENSG00000162433,ENST00000395334.6					Ak4
1p31.3	1:65420651-65641558	LEPR, OBR, LEPRD	Leptin receptor	601007	LEPR	3953	ENSG00000116678,ENST00000371060.7		Obesity, morbid, due to leptin receptor deficiency	614963	Autosomal recessive	3	Lepr
1p31.3	1:65420667-65436006	LEPROT, OBRGRP	Leptin receptor overlapping transcript	613461	LEPROT	54741	ENSG00000213625,ENST00000613538.1	transcribed in same direction as LEPR				Leprot
1p31.3	1:66533360-66751138	SGIP1	SH3-domain GRB2-like (endophilin)-interacting protein 1	611540	SGIP1	84251	ENSG00000118473,ENST00000371039.5					Sgip1
1p31.3	1:67138638-67259978	IL23R, IBD17	Interleukin 23 receptor	607562	IL23R	149233	ENSG00000162594,ENST00000347310.10		{Inflammatory bowel disease 17, protection against}	612261		3	Il23r
1p31.3	1:67138638-67259978	IL23R, IBD17	Interleukin 23 receptor	607562	IL23R	149233	ENSG00000162594,ENST00000347310.10		{Psoriasis, protection against}	605606		3	Il23r
1p31.3	1:67685200-67688333	DDIT1, GADD45	DNA damage-inducible transcript-1	126335	GADD45A	1647	ENSG00000116717,ENST00000370985.4					Gadd45a
1p31.3	1:68098458-68233017	WLS, GPR177, EVI, ZKS	WNT ligand secretion mediator	611514	WLS	79971	ENSG00000116729,ENST00000354777.6		Zaki syndrome	619648	Autosomal recessive	3	Wls
1p31.3	1:68428821-68450321	RPE65, RP20, LCA2	RPE65 retinoid isomerohydrolase	180069	RPE65	6121	ENSG00000116745,ENST00000262340.6		Leber congenital amaurosis 2	204100	Autosomal recessive	3	Rpe65
1p31.3	1:68428821-68450321	RPE65, RP20, LCA2	RPE65 retinoid isomerohydrolase	180069	RPE65	6121	ENSG00000116745,ENST00000262340.6		Retinitis pigmentosa 20	613794	Autosomal recessive	3	Rpe65
1p31.3	1:68428821-68450321	RPE65, RP20, LCA2	RPE65 retinoid isomerohydrolase	180069	RPE65	6121	ENSG00000116745,ENST00000262340.6		Retinitis pigmentosa 87 with choroidal involvement	618697	Autosomal dominant	3	Rpe65
1p31.1	1:70354810-70368022	HHLA3	Human endogenous retrovirus-H long terminal repeat-associating 3	604372	HHLA3	11147	ENSG00000197568,ENST00000463058.6					
1p31.1	1:70852357-71047815	PTGER3, EP3	Prostaglandin E receptor 3, EP3 subtype	176806	PTGER3	5733	ENSG00000050628,ENST00000370931.7					Ptger3



Phenotype Mapping Key
1 - The disorder is placed on the map due to its association with a gene, but the underlying defect is not known.
2 - The disorder was placed on the map by statistical methods.
3 - The molecular basis of the disorder is known.
4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved.



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