GeDiPNet: Comprehensive Gene Data - OMIM, HGNC, Ensembl, UniProt, GO, Transcription Factors & miRNA

Home
Browse
- Genes
- Diseases
- Pathways
  - Reactome
  - KEGG
Analysis
Help
Links
FAQ
Contact us

ABCD1 (ATP binding cassette subfamily D member 1)

Gene

215

ATP binding cassette subfamily D member 1

ABCD1

ABC42, ALD, ALDP, AMN

Xq28

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, M

Show/Hide all(86)

SNP ID	Visualize variation	Clinical significance	Consequence
rs4010613	C>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs11146842	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs128624214	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs128624215	C>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs128624219	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs128624220	C>T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs128624221	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs128624222	G>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs128624223	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs128624224	C>G,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs128624225	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs140263823	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs141110958	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs150346282	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs193922093	->C	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs193922094	T>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs201568579	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs201774661	T>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs202125585	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs387906494	AG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs387906495	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs398123100	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs398123102	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs398123103	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs398123104	C>A,T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs398123105	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs398123106	C>T	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs398123107	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs398123108	G>A,T	Likely-pathogenic, pathogenic	Intron variant
rs727503786	C>A,G,T	Likely-pathogenic, pathogenic	Non coding transcript variant, synonymous variant, missense variant, coding sequence variant
rs781862879	A>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs782041940	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs782266592	G>C,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs797044625	AC>-,ACAC	Likely-pathogenic, pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs797044626	A>G	Pathogenic	Splice acceptor variant
rs797044726	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs797044781	G>A	Pathogenic	Splice acceptor variant
rs886044777	G>A	Likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1064793877	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1170974058	C>A,G,T	Pathogenic	Non coding transcript variant, coding sequence variant, synonymous variant, stop gained
rs1557054153	G>A	Likely-pathogenic	Splice acceptor variant
rs1557054210	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1557054318	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1557054745	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557054776	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557054873	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557054875	T>G	Pathogenic	Splice donor variant
rs1557055253	GTGG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1557055260	A>G	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557055311	G>A,C	Likely-pathogenic	Splice acceptor variant
rs1557055316	G>A	Pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557055337	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557055340	G>A,T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557055392	->GC	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1557055405	T>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557055406	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1569540883	AG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1569541000	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1569541006	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1569541007	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1569541009	CCCTCAGGTGACGGAGCTGGCT>-	Pathogenic	Coding sequence variant, splice acceptor variant, non coding transcript variant, intron variant
rs1569541088	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1569541093	TACATCCC>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1569541096	G>A	Pathogenic	Splice donor variant
rs1569541109	A>G	Pathogenic	Splice acceptor variant
rs1569541115	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1569541198	G>A	Pathogenic	Splice donor variant
rs1569541203	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1569541207	->G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603233089	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1603233120	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1603234451	->GGCAGCCT	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603234466	A>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1603234501	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1603234574	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603234759	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1603235263	G>A	Likely-pathogenic	Splice acceptor variant
rs1603235267	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1603235321	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603235389	G>A	Pathogenic	Splice acceptor variant
rs1603235406	TG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603235421	CTGGACGTC>-	Likely-pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs1603235901	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1603235941	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603236013	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603236020	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant

Show/Hide all(106)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029416	hsa-miR-26b-5p	Microarray	19088304
MIRT050424	hsa-miR-23a-3p	CLASH	23622248
MIRT039787	hsa-miR-615-3p	CLASH	23622248
MIRT053394	hsa-miR-96-5p	Microarray	23807165
MIRT758715	hsa-miR-1202	CLIP-seq
MIRT758716	hsa-miR-125a-3p	CLIP-seq
MIRT758717	hsa-miR-1266	CLIP-seq
MIRT758718	hsa-miR-1273f	CLIP-seq
MIRT758719	hsa-miR-1275	CLIP-seq
MIRT758720	hsa-miR-23a	CLIP-seq
MIRT758721	hsa-miR-23b	CLIP-seq
MIRT758722	hsa-miR-23c	CLIP-seq
MIRT758723	hsa-miR-3119	CLIP-seq
MIRT758724	hsa-miR-3151	CLIP-seq
MIRT758725	hsa-miR-3175	CLIP-seq
MIRT758726	hsa-miR-3184	CLIP-seq
MIRT758727	hsa-miR-3187-3p	CLIP-seq
MIRT758728	hsa-miR-3188	CLIP-seq
MIRT758729	hsa-miR-3197	CLIP-seq
MIRT758730	hsa-miR-3605-5p	CLIP-seq
MIRT758731	hsa-miR-3612	CLIP-seq
MIRT758732	hsa-miR-3619-3p	CLIP-seq
MIRT758733	hsa-miR-3665	CLIP-seq
MIRT758734	hsa-miR-3972	CLIP-seq
MIRT758735	hsa-miR-423-5p	CLIP-seq
MIRT758736	hsa-miR-4265	CLIP-seq
MIRT758737	hsa-miR-4283	CLIP-seq
MIRT758738	hsa-miR-4296	CLIP-seq
MIRT758739	hsa-miR-4316	CLIP-seq
MIRT758740	hsa-miR-4322	CLIP-seq
MIRT758741	hsa-miR-4435	CLIP-seq
MIRT758742	hsa-miR-4443	CLIP-seq
MIRT758743	hsa-miR-4447	CLIP-seq
MIRT758744	hsa-miR-4472	CLIP-seq
MIRT758745	hsa-miR-4518	CLIP-seq
MIRT758746	hsa-miR-4525	CLIP-seq
MIRT758747	hsa-miR-4665-5p	CLIP-seq
MIRT758748	hsa-miR-4701-5p	CLIP-seq
MIRT758749	hsa-miR-4710	CLIP-seq
MIRT758750	hsa-miR-4723-5p	CLIP-seq
MIRT758751	hsa-miR-4776-5p	CLIP-seq
MIRT758752	hsa-miR-4792	CLIP-seq
MIRT758753	hsa-miR-491-5p	CLIP-seq
MIRT758754	hsa-miR-548s	CLIP-seq
MIRT758755	hsa-miR-564	CLIP-seq
MIRT758756	hsa-miR-581	CLIP-seq
MIRT758757	hsa-miR-583	CLIP-seq
MIRT758758	hsa-miR-588	CLIP-seq
MIRT758759	hsa-miR-591	CLIP-seq
MIRT758760	hsa-miR-625	CLIP-seq
MIRT758761	hsa-miR-637	CLIP-seq
MIRT758762	hsa-miR-650	CLIP-seq
MIRT758763	hsa-miR-657	CLIP-seq
MIRT1923689	hsa-miR-1208	CLIP-seq
MIRT758718	hsa-miR-1273f	CLIP-seq
MIRT1923690	hsa-miR-1292	CLIP-seq
MIRT1923691	hsa-miR-1915	CLIP-seq
MIRT758723	hsa-miR-3119	CLIP-seq
MIRT1923692	hsa-miR-3126-5p	CLIP-seq
MIRT1923693	hsa-miR-3160-3p	CLIP-seq
MIRT758727	hsa-miR-3187-3p	CLIP-seq
MIRT1923694	hsa-miR-3190	CLIP-seq
MIRT1923695	hsa-miR-34a	CLIP-seq
MIRT1923696	hsa-miR-34c-5p	CLIP-seq
MIRT1923697	hsa-miR-361-3p	CLIP-seq
MIRT1923698	hsa-miR-3689a-3p	CLIP-seq
MIRT1923699	hsa-miR-3689c	CLIP-seq
MIRT1923700	hsa-miR-3929	CLIP-seq
MIRT1923701	hsa-miR-4270	CLIP-seq
MIRT1923702	hsa-miR-4318	CLIP-seq
MIRT1923703	hsa-miR-4419b	CLIP-seq
MIRT758741	hsa-miR-4435	CLIP-seq
MIRT1923704	hsa-miR-4441	CLIP-seq
MIRT1923705	hsa-miR-4471	CLIP-seq
MIRT1923706	hsa-miR-4478	CLIP-seq
MIRT1923707	hsa-miR-4481	CLIP-seq
MIRT1923708	hsa-miR-4487	CLIP-seq
MIRT1923709	hsa-miR-449a	CLIP-seq
MIRT1923710	hsa-miR-449b	CLIP-seq
MIRT1923711	hsa-miR-4505	CLIP-seq
MIRT1923712	hsa-miR-4632	CLIP-seq
MIRT1923713	hsa-miR-4646-5p	CLIP-seq
MIRT1923714	hsa-miR-4649-5p	CLIP-seq
MIRT1923715	hsa-miR-4652-5p	CLIP-seq
MIRT758748	hsa-miR-4701-5p	CLIP-seq
MIRT1923716	hsa-miR-4704-3p	CLIP-seq
MIRT758749	hsa-miR-4710	CLIP-seq
MIRT1923717	hsa-miR-4728-5p	CLIP-seq
MIRT1923718	hsa-miR-4745-5p	CLIP-seq
MIRT758754	hsa-miR-548s	CLIP-seq
MIRT1923719	hsa-miR-558	CLIP-seq
MIRT758755	hsa-miR-564	CLIP-seq
MIRT758758	hsa-miR-588	CLIP-seq
MIRT1923720	hsa-miR-626	CLIP-seq
MIRT2165251	hsa-miR-182	CLIP-seq
MIRT758726	hsa-miR-3184	CLIP-seq
MIRT758735	hsa-miR-423-5p	CLIP-seq
MIRT758749	hsa-miR-4710	CLIP-seq
MIRT758752	hsa-miR-4792	CLIP-seq
MIRT758757	hsa-miR-583	CLIP-seq
MIRT2383757	hsa-miR-3199	CLIP-seq
MIRT2383758	hsa-miR-4515	CLIP-seq
MIRT2383759	hsa-miR-4651	CLIP-seq
MIRT1923715	hsa-miR-4652-5p	CLIP-seq
MIRT2383760	hsa-miR-608	CLIP-seq
MIRT758761	hsa-miR-637	CLIP-seq

Show/Hide all(64)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002082	Process	Regulation of oxidative phosphorylation	ISS
GO:0005324	Function	Long-chain fatty acid transporter activity	EXP	11500517
GO:0005324	Function	Long-chain fatty acid transporter activity	IBA	21873635
GO:0005324	Function	Long-chain fatty acid transporter activity	IGI	18757502
GO:0005515	Function	Protein binding	IPI	10551832, 10777694, 11883941, 17609205, 20531392
GO:0005524	Function	ATP binding	IBA	21873635
GO:0005524	Function	ATP binding	IDA	11248239, 16946495
GO:0005737	Component	Cytoplasm	IDA	17761426
GO:0005765	Component	Lysosomal membrane	IDA	16946495
GO:0005777	Component	Peroxisome	IDA	9425230, 10777694, 14533738, 17542813, 17761426, 18757502, 20810565
GO:0005778	Component	Peroxisomal membrane	IBA	21873635
GO:0005778	Component	Peroxisomal membrane	IDA	16946495, 17609205
GO:0005778	Component	Peroxisomal membrane	TAS
GO:0005779	Component	Integral component of peroxisomal membrane	IDA	10640429
GO:0005779	Component	Integral component of peroxisomal membrane	NAS	8441467
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	16946495
GO:0005829	Component	Cytosol	TAS
GO:0006635	Process	Fatty acid beta-oxidation	IBA	21873635
GO:0006635	Process	Fatty acid beta-oxidation	IDA	9425230, 17542813
GO:0006635	Process	Fatty acid beta-oxidation	IGI	18757502, 21145416
GO:0006635	Process	Fatty acid beta-oxidation	IMP	23671276
GO:0007031	Process	Peroxisome organization	IBA	21873635
GO:0007031	Process	Peroxisome organization	IDA	9425230
GO:0007031	Process	Peroxisome organization	NAS	8441467
GO:0015607	Function	ABC-type fatty-acyl-CoA transporter activity	IDA	15682271
GO:0015607	Function	ABC-type fatty-acyl-CoA transporter activity	IGI	18757502
GO:0015910	Process	Long-chain fatty acid import into peroxisome	IBA	21873635
GO:0015910	Process	Long-chain fatty acid import into peroxisome	IGI	18757502
GO:0015916	Process	Fatty-acyl-CoA transport	IEA
GO:0015919	Process	Peroxisomal membrane transport	NAS	8441467
GO:0016020	Component	Membrane	HDA	19946888
GO:0016887	Function	ATPase activity	IBA	21873635
GO:0016887	Function	ATPase activity	IDA	11248239, 16946495
GO:0019899	Function	Enzyme binding	IPI	16781659
GO:0030497	Process	Fatty acid elongation	ISS
GO:0031966	Component	Mitochondrial membrane	IDA	16946495
GO:0031998	Process	Regulation of fatty acid beta-oxidation	ISS
GO:0032000	Process	Positive regulation of fatty acid beta-oxidation	IMP	23123468
GO:0032000	Process	Positive regulation of fatty acid beta-oxidation	ISS
GO:0033540	Process	Fatty acid beta-oxidation using acyl-CoA oxidase	TAS
GO:0036109	Process	Alpha-linolenic acid metabolic process	TAS
GO:0036113	Process	Very long-chain fatty-acyl-CoA catabolic process	IMP	23671276
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA	21873635
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	NAS	8441467
GO:0042758	Process	Long-chain fatty acid catabolic process	IGI	18757502
GO:0042758	Process	Long-chain fatty acid catabolic process	IMP	23671276
GO:0042760	Process	Very long-chain fatty acid catabolic process	IBA	21873635
GO:0042760	Process	Very long-chain fatty acid catabolic process	IDA	9425230
GO:0042760	Process	Very long-chain fatty acid catabolic process	IGI	18757502, 21145416
GO:0042802	Function	Identical protein binding	IPI	10551832
GO:0042803	Function	Protein homodimerization activity	IDA	17609205, 18757502, 21145416
GO:0043217	Process	Myelin maintenance	ISS
GO:0043531	Function	ADP binding	IDA	16946495
GO:0043651	Process	Linoleic acid metabolic process	TAS
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	17761426
GO:0051900	Process	Regulation of mitochondrial depolarization	ISS
GO:0055085	Process	Transmembrane transport	TAS
GO:0055089	Process	Fatty acid homeostasis	ISS
GO:0055092	Process	Sterol homeostasis	ISS
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	ISS
GO:1900407	Process	Regulation of cellular response to oxidative stress	ISS
GO:1903427	Process	Negative regulation of reactive oxygen species biosynthetic process	ISS
GO:1990535	Process	Neuron projection maintenance	ISS
GO:2001280	Process	Positive regulation of unsaturated fatty acid biosynthetic process	ISS

MIM	HGNC	e!Ensembl
300371	61	ENSG00000101986

Protein

UniProt ID

P33897

Protein name

ATP-binding cassette sub-family D member 1 (EC 3.1.2.-) (EC 7.6.2.-) (Adrenoleukodystrophy protein) (ALDP)

Protein function

ATP-dependent transporter of the ATP-binding cassette (ABC) family involved in the transport of very long chain fatty acid (VLCFA)-CoA from the cytosol to the peroxisome lumen (PubMed:11248239, PubMed:15682271, PubMed:16946495, PubMed:18757502,

PDB

7RR9 , 7RRA , 7SHM , 7SHN , 7VR1 , 7VWC , 7VX8 , 7VZB , 7X07 , 7X0T , 7X0Z , 7X1W , 7XEC , 7YRQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06472	ABC_membrane_2	78 → 352	ABC transporter transmembrane region 2	Family
PF00005	ABC_tran	490 → 633	ABC transporter	Domain

Sequence

MPVLSRPRPWRGNTLKRTAVLLALAAYGAHKVYPLVRQCLAPARGLQAPAGEPTQEASGV
AAAKAGMNRVFLQRLLWLLRLLFPRVLCRETGLLALHSAALVSRTFLSVYVARLDGRLAR
CIVRKDPRAFGWQLLQWLLIALPATFVNSAIRYLEGQLALSFRSRLVAHAYRLYFSQQTY
YRVSNMDGRLRNPDQSLTEDVVAFAASVAHLYSNLTKPLLDVAVTSYTLLRAARSRGAGT
AWPSAIAGLVVFLTANVLRAFSPKFGELVAEEARRKGELRYMHSRVVANSEEIAFYGGHE
VELALLQRSYQDLASQINLILLERLWYVMLEQFLMKYVWSASGLLMVAVPIITATGYSES
DAEAVKKAALEKKEEELVSERTEAFTIARNLLTAAADAIERIMSSYKEVTELAGYTARVH
EMFQVFEDVQRCHFKRPRELEDAQAGSGTIGRSGVRVEGPLKIRGQVVDVEQGIICENIP
IVTPSGEVVVASLNIRVEEGMHLLITGPNGCGKSSLFRILGGLWPTYGGVLYKPPPQRMF
YIPQRPYMSVGSLRDQVIYPDSVEDMQRKGYSEQDLEAILDVVHLHHILQREGGWEAMCD
WKDVLSGGEKQRIGMARMFYHRPKYALLDECTSAVSIDVEGKIFQAAKDAGIALLSITHR
PSLWKYHTHLLQFDGEGGWKFEKLDSAARLSLTEEKQRLEQQLAGIPKMQRRLQELCQIL
GEAVAPAHVPAPSPQGPGGLQGAST

Sequence length

745

Interactions

View interactions

	KEGG		Reactome
	ABC transporters Peroxisome		ABC transporters in lipid homeostasis Linoleic acid (LA) metabolism alpha-linolenic acid (ALA) metabolism Beta-oxidation of very long chain fatty acids Defective ABCD1 causes adrenoleukodystrophy (ALD) Class I peroxisomal membrane protein import

Associated diseases

Show/Hide Causal Diseases (9)

Causal
Disease name	Disease term	dbSNP ID	References
Adrenoleukodystrophy	Adrenoleukodystrophy	rs128624213, rs128624214, rs1569541109, rs128624215, rs128624216, rs128624217, rs128624218, rs128624219, rs128624220, rs128624221, rs387906494, rs128624222, rs128624223, rs387906495, rs128624224, rs1569541096, rs2147483647, rs128624225, rs11146842, rs4010613, rs387906496, rs1569541198, rs1569540743, rs387906497, rs193922093, rs193922097, rs193922098, rs398123100, rs398123102, rs398123105, rs398123106, rs398123107, rs398123108, rs398123110, rs398123111, rs398123112, rs713993050, rs201568579, rs150346282, rs797044610, rs797044625, rs797044726, rs864309520, rs886044777, rs1057516052, rs1057517954, rs1064793877, rs1131691916, rs1131691743, rs1557054318, rs1557054153, rs1557052302, rs1557052362, rs1557054873, rs1557055340, rs1557052530, rs1557055392, rs1557052171, rs1557054875, rs1557052294, rs1557052390, rs1557052397, rs1557054210, rs1170974058, rs727503786, rs1557055405, rs1557055311, rs1557052555, rs1557052133, rs1159943880, rs1557054776, rs1557052351, rs1557055253, rs1557055398, rs1557052573, rs1557055260, rs1292006620, rs1569540693, rs782266592, rs1557055316, rs1569540676, rs1569541115, rs1569541000, rs1569541088, rs1569541203, rs1569540688, rs1569540883, rs1569541009, rs1569540665, rs1569540695, rs1569540704, rs1569541006, rs781862879, rs1557055337, rs1569541207, rs1603235321, rs1603231653, rs1603231784, rs1603231897, rs1603232111, rs1603232195, rs1603232243, rs1603233089, rs1603233113, rs1603234451, rs1603234759, rs1603235901, rs1603236012, rs1603235263, rs1603235389, rs1603231911, rs1603233120, rs1603234501, rs1603236020, rs1603231848, rs1603232237, rs1603234466, rs1603235267, rs1603235421, rs1603235941, rs1603234574, rs1603236013, rs2091702389, rs2091711094, rs2091711370, rs782509393, rs2091726671, rs2091726809, rs1557054173, rs2091749146, rs2091762383, rs2091763089, rs2091764526, rs2091764754, rs2091774046, rs2091775068, rs2091727061, rs2091708827, rs2091774163, rs2091726242	21488864, 15284851, 16023551, 15564782, 8566952, 27604308, 15643618, 17542813, 21700483, 21889498, 22366764, 9452087, 15800013, 24722136, 15811009, 14713218, 11336405, 24719134, 9051655, 24357685, 11220738, 7849723, 9088111, 7668254, 17029209, 7904210, 27084228, 11748843, 11248239, 23419472, 9242200, 8040304, 11810273, 10980539, 6795626, 19129531, 22483867, 15388659, 20661612, 7825602, 10737980, 22479560, 24154795, 11438993, 7878038, 15192815, 7581394, 8353949, 9195223, 7894167, 20455653, 10190819, 7717396, 26227820, 21966424, 16949688, 23300730, 16415970, 18973459, 10369742, 7998779, 24685009, 9894883, 23651979, 24480483, 16087056, 17285533, 10227685, 14767898, 8773611, 12913200, 22280810, 11798073, 10815658, 7860075, 10480364, 20626745, 10980309, 10551832, 23154058, 25324868, 7202134, 23566833, 28503596, 16401743, 11310629, 7677014, 17602313, 23664929, 8651290, 11102997, 21476988, 23712774, 23768953, 27067449, 24788897, 23835273, 23671276, 23430809, 23926373, 26454440, 26388597, 9553942, 8892025, 9556301, 21300044, 15812458, 8048932, 20195870, 1481812, 22198747, 22057157, 16319717, 21586746, 25655951, 7811247, 20008255, 17372139, 26686776, 21478203, 12175782, 8441467, 21068741, 9425230, 6728562, 23566848
Asthma	Asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283	9452087
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs120074176, rs786205019
Developmental regression	Developmental regression	rs1224421127
Leukodystrophy	Leukodystrophy	rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604, rs1382083552, rs1576101665, rs1576080546, rs1576074651, rs1367958450, rs932183417
Myocarditis	Myocarditis	rs28763965
Polyneuropathy	Polyneuropathy	rs1597597437
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085	9452087
Spastic paraplegia	Spastic Paraplegia, Spastic Paraplegia, Hereditary	rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520, rs137852521, rs137852524, rs137852525, rs879253716, rs387906970, rs587776888, rs759947457, rs587776891, rs753426920, rs387907057, rs397514478, rs387907285, rs387907287, rs387907288, rs281865120, rs397514513, rs141431913, rs312262755, rs398123013, rs398123014, rs398122382, rs745744124, rs483352924, rs483352925, rs587777222, rs587779388, rs587783179, rs587783772, rs587784383, rs587784384, rs730882249, rs762947018, rs786204628, rs141315518, rs786204416, rs786204750, rs770866403, rs775059063, rs797044787, rs794729214, rs794729215, rs797045050, rs370828455, rs146262009, rs797045244, rs780247476, rs185246578, rs766773277, rs863224494, rs752669339, rs869320690, rs200737038, rs869312914, rs752283089, rs751713917, rs756205995, rs875989787, rs875989845, rs375817528, rs200440467, rs876661295, rs794727501, rs770285398, rs878854745, rs878854975, rs878855013, rs878855011, rs878855083, rs878853979, rs879255397, rs879255396, rs886039410, rs886039409, rs886039407, rs886039408, rs886039405, rs886039406, rs752598529, rs752059006, rs202199411, rs886041949, rs886041127, rs886042238, rs1057517123, rs747868017, rs1057517294, rs565203731, rs753205260, rs1057517002, rs779338945, rs755186798, rs1057517250, rs1057517060, rs753012964, rs758572409, rs1057516959, rs1057516438, rs145766983, rs1057516689, rs1057516932, rs1057516635, rs1057517366, rs759166250, rs1057517138, rs761089024, rs1057517297, rs1057517311, rs1057516779, rs1057517039, rs1057517285, rs1057516365, rs1057516625, rs1057516987, rs1057516837, rs1057518016, rs1057518880, rs1057518697, rs1057519289, rs1057519290, rs1057519291, rs1057519292, rs1057519293, rs1057521784, rs1060499756, rs1060499771, rs1060502224, rs1060502523, rs371019314, rs1060503431, rs774906736, rs372350326, rs776976178, rs370837940, rs1064793162, rs1064793920, rs1555177629, rs1555394376, rs377445018, rs767024102, rs768176054, rs1557090943, rs1557090161, rs1555178616, rs1555251539, rs754439135, rs1321353475, rs1555186937, rs767871841, rs867249938, rs1440541889, rs1555456727, rs1268722908, rs1557092247, rs1557092248, rs765632065, rs773246271, rs1554380391, rs1554517327, rs200268523, rs1156566314, rs1160357920, rs773182375, rs768366199, rs774809466, rs1555542889, rs915291720, rs1021034246, rs769676029, rs746979262, rs1033093801, rs955142329, rs760559263, rs1557091773, rs1372213267, rs1557091678, rs1402429085, rs1555179091, rs1555179087, rs374128662, rs142209254, rs1553259463, rs1555254256, rs755820725, rs1335804396, rs568176223, rs1555979596, rs780030221, rs1553314978, rs923921184, rs1556840029, rs374894037, rs1553262438, rs1555249362, rs950356390, rs1557091278, rs1557090220, rs1259615333, rs1555249276, rs1555249425, rs1555249479, rs1555249555, rs1555250949, rs1555252349, rs1167474602, rs1175545518, rs1555249648, rs1555249878, rs1400601705, rs1555252086, rs745907077, rs1555249371, rs1555249904, rs1555393393, rs1028098148, rs766711286, rs767164213, rs1470672632, rs1555252184, rs1224762841, rs769329153, rs1555254734, rs1555397331, rs941230062, rs545219731, rs200832994, rs1555250255, rs1240368715, rs1555393338, rs1049504575, rs1485209013, rs868672014, rs1214483973, rs558285072, rs1555398241, rs1186788102, rs981804211, rs935301743, rs1555251822, rs1555255676, rs369459721, rs772400670, rs1558119445, rs759033144, rs1565705251, rs1566055368, rs1566058677, rs1006060877, rs1448182827, rs1569544908, rs754944359, rs754944429, rs1569544723, rs1569285562, rs367916692, rs1566893090, rs1177577061, rs1566881181, rs1569280986, rs1590847310, rs746220436, rs1569281085, rs529495094, rs1563920268, rs1563920252, rs1563920172, rs1563919973, rs1563920000, rs1563920132, rs751568153, rs1569274606, rs1455411788, rs1571908452, rs768640920, rs1578729121, rs1585896928, rs1585808059, rs1588001500, rs1011987148, rs1594915468, rs1594925773, rs1361370524, rs1593121507, rs1365858851, rs1593125341, rs1181477970, rs1593129673, rs1593133395, rs1593133714, rs1593144167, rs1593144544, rs1593144887, rs767435985, rs1593147785, rs994374354, rs1593157923, rs1594900921, rs1594906944, rs1594910045, rs1594913346, rs1594930532, rs1594938339, rs140354725, rs1418885000, rs1603275195, rs1603276234, rs1574077569, rs1603275315, rs1587878722, rs1587879449, rs1593133607, rs770490672, rs1602099961, rs778722037, rs756830713, rs1593121484, rs763869212, rs1594912625, rs1597556143, rs778113360, rs377278120, rs933233143, rs1572337800, rs1573072864, rs1593125290, rs1593126754, rs1593123432, rs1571563769, rs1584514057, rs772704931, rs1587878961, rs1802811311, rs1052410160, rs1298132281, rs748480664, rs139015012, rs1340636078, rs927804920, rs1883405453, rs1883566609, rs1868403104, rs1868480299, rs1868481514, rs1868567420, rs1868626730, rs1868628768, rs1868872666, rs1869006331, rs769212398, rs757179309, rs2039098098, rs2039228359, rs774867891, rs2039613696, rs2039616151, rs2039786680, rs2039997721, rs748149642, rs2040215878, rs760484081, rs1204169977, rs367665974, rs201311640, rs1034820850, rs1930458591, rs1882179247, rs2039758874, rs1885117995, rs1805435464	23664929, 17372139

Show/Hide Unknown Diseases (17)

Unknown
Disease name	Disease term	dbSNP ID	References
Addison`s disease	Addison Disease
Adrenomyeloneuropathy	Adrenomyeloneuropathy		21700483, 15811009, 7668254, 16319717, 8651290, 7878038, 22057157, 17602313
Alopecia	Alopecia
Bowel incontinence	Fecal Incontinence
Bulbar palsy	Bulbar palsy
Cerebral adrenoleukodystrophy, x-linked	X-linked cerebral adrenoleukodystrophy	rs201774661
Congenital microcephaly	Congenital microcephaly
Contiguous abcd1 dxs1357e deletion syndrome	Contiguous Abcd1-Dxs1375e Deletion Syndrome, CADDS		22994209, 11992258
Dementia	Dementia
Encephalitis	Encephalitis
Erectile dysfunction	Erectile dysfunction
Hypoadrenocorticism	Hypoadrenocorticism, familial
Hypogonadism	Hypogonadism
Language disorders	Language Disorders
Psychosis	Psychotic Disorders
Spastic tetraparesis	Spastic tetraparesis	rs35077384
Thoracolumbar scoliosis	Thoracolumbar scoliosis		9452087

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412