Browse Rare Disease Information

The table below displays a list of all rare diseases contained within RARe-SOURCE™, their gene associations, links to related features within RARe-SOURCE™ and links to external data sources. Clicking on the disease name, lists all the disease aliases available in RARe-SOURCE™ for this disease as well as recent publications obtained from PubMed. Clicking on the associated gene lands on the ‘Gene Information’ page with specific details on the gene.

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	Rare Disease Name	Associated Genes	Gene Disease Annotations	Disease Annotations	Disease IDs	Links

Rare Disease Name	Associated Genes	Gene Disease Annotations	Disease Annotations	Disease IDs	Links
X-linked Creatine Transporter Deficiency Ccds1 Cerebral Creatine Deficiency Syndrome 1	SLC6A8	Curated Variants (186) Gene Disease Literature AI	Disease Literature AI (144)	GARD: 0001608 OMIM: 300352 Orphanet: 52503	PubMed
12q14 Microdeletion Syndrome Del(12)(q14) Deletion 12q14	HMGA2 LEMD3	Gene Disease Literature AI	Disease Literature AI (6)	GARD: 0013390 Orphanet: 94063	PubMed
15q11.2 Microdeletion Syndrome 15q11.2 Bp1-bp2 Microdeletion Syndrome 15q11.2 Microdeletion	NIPA2 TUBG1 NIPA1	Gene Disease Literature AI	Disease Literature AI (2)	GARD: 0010525 OMIM: 615656 Orphanet: 261183	PubMed
15q13.3 Microdeletion Syndrome 15q13.3 Microdeletion 15q13.3 Microdeletion Syndrome	CHRNA7	Gene Disease Literature AI	Disease Literature AI (9)	GARD: 0010296 OMIM: 612001 Orphanet: 199318	PubMed
15q24 Microdeletion Syndrome 15q24 Deletion 15q24 Microdeletion Syndrome	SIN3A	Gene Disease Literature AI	Disease Literature AI (26)	GARD: 0012219 OMIM: 613406 Orphanet: 94065	PubMed
16q24.3 Microdeletion Syndrome Chromosome 16q24.3 Microdeletion Syndrome Del(16)(q24.3)	ANKRD11	Gene Disease Literature AI (0)	Disease Literature AI (0)	GARD: 0010935 Orphanet: 261250	PubMed
17p11.2 Microduplication Syndrome 17p11.2 Duplication Syndrome Chromosome 17p11.2 Duplication Syndrome	RAI1	Gene Disease Literature AI	Disease Literature AI (101)	GARD: 0010145 OMIM: 610883 Orphanet: 1713	PubMed
17q11 Microdeletion Syndrome Chromosome 17q11.2 Deletion Syndrome Chromosome 17q11.2 Deletion Syndrome, 1.4mb	NF1	Gene Disease Literature AI	Disease Literature AI (27)	GARD: 0005408 OMIM: 613675 Orphanet: 97685	PubMed
17q12 Microdeletion Syndrome 17q12 Microdeletion Syndrome 17q12 Recurrent Microdeletion Syndrome	LHX1 HNF1B	Gene Disease Literature AI	Disease Literature AI (28)	GARD: 0013297 OMIM: 614527 Orphanet: 261265	PubMed
17q23.1q23.2 Microdeletion Syndrome 17q23.1-q23.2 Microdeletion Syndrome Chromosome 17q23.1-q23.2 Deletion Syndrome	TBX4	Gene Disease Literature AI (0)	Disease Literature AI (0)	GARD: 0010936 OMIM: 613355 Orphanet: 261279	PubMed
1p36 Deletion Syndrome 1p Telomere Deletion Syndrome 1p36	PRDM16 GABRD PDPN CASZ1 SPEN RERE SKI UBE4B PRKCZ MMP23B KCNAB2 HSPG2 LUZP1	Gene Disease Literature AI	Disease Literature AI (133)	GARD: 0006082 OMIM: 616975 Orphanet: 1606	PubMed
1q44 Microdeletion Syndrome Chromosome 1q44 Microdeletion Syndrome Del(1)(q44)	HNRNPU	Gene Disease Literature AI	Disease Literature AI (1)	GARD: 0010943 Orphanet: 238769	PubMed
2-methylbutyryl-coa Dehydrogenase Deficiency 2-@methylbutyryl-coa Dehydrogenase Deficiency 2-mbcd Deficiency	ACADSB	Gene Disease Literature AI	Disease Literature AI (23)	GARD: 0010322 OMIM: 610006 Orphanet: 79157	PubMed
20p12.3 Microdeletion Syndrome Del(20)(p12.3) Monosomy 20p12.3	BMP2	Gene Disease Literature AI (0)	Disease Literature AI (0)	GARD: 0012492 Orphanet: 261295	PubMed
22q11.2 Deletion Syndrome 22q Deletion Syndrome(s) 22q11 Deletion Syndromes	GP1BB RREB1 SEC24C TBX1 ARVCF JMJD1C UFD1 COMT HIRA	Gene Disease Literature AI	Disease Literature AI (4413)	GARD: 0010299 OMIM: 188400 Orphanet: 567	PubMed
22q11.2 Duplication Syndrome 22q11.2 Duplication 22q11.2 Microduplication Syndrome	TBX1	Gene Disease Literature AI	Disease Literature AI (36)	GARD: 0010557 OMIM: 608363 Orphanet: 1727	PubMed
2q23.1 Microdeletion Syndrome Chromosome 2q23.1 Microdeletion Syndrome Del(2)(q23.1)	MBD5	Gene Disease Literature AI	Disease Literature AI (284)	GARD: 0010998 OMIM: 156200 Orphanet: 228402	PubMed
2q24 Microdeletion Syndrome 2q24 Deletion Chromosome 2q24 Microdeletion Syndrome	TBR1	Gene Disease Literature AI	Disease Literature AI (436)	GARD: 0003746 Orphanet: 1617	PubMed
2q32q33 Microdeletion Syndrome 2q32-q33 Microdeletion Syndrome 2q32q33 Microdeletion Syndromes	SATB2	Gene Disease Literature AI	Disease Literature AI (1747)	GARD: 0013206 OMIM: 612313 Orphanet: 251019	PubMed
2q37 Microdeletion Syndrome 2q37 Deletion Syndrome Albright Hereditary Osteodystrophy-like Syndrome	HDAC4	Gene Disease Literature AI	Disease Literature AI (46)	GARD: 0010202 OMIM: 600430 Orphanet: 1001	PubMed
3-hydroxy-3-methylglutaric Aciduria 3-hydroxy 3-methyl Glutaric Aciduria 3-hydroxy-3-methylglutaric Aciduria	HMGCL	Gene Disease Literature AI	Disease Literature AI (203)	GARD: 0008387 OMIM: 246450 Orphanet: 20	PubMed
3-hydroxy-3-methylglutaryl-coa Synthase Deficiency 3-hydroxy-3-methylglutaryl-coa Synthase 2 Deficiency 3-hydroxy-3-methylglutaryl-coa Synthase-2 Deficiency	HMGCS2	Gene Disease Literature AI	Disease Literature AI (21)	GARD: 0002712 OMIM: 605911 Orphanet: 35701	PubMed
3-methylcrotonyl-coa Carboxylase Deficiency 3 Alpha Methylcrotonylglycinuria 1 3 Methylcrotonyl-coa Carboxylase 1 Deficiency	MCCC1 MCCC2	Gene Disease Literature AI	Disease Literature AI (138)	GARD: 0010954 OMIM: 210200 Orphanet: 6	PubMed
3-methylglutaconic Aciduria Type 1 3 Alpha Methylglutaconic Aciduria Type I 3 Methylglutaconic Aciduria Type 1	AUH	Gene Disease Literature AI	Disease Literature AI (35)	GARD: 0010321 OMIM: 250950 Orphanet: 67046	PubMed
3-methylglutaconic Aciduria Type 3 3-@methylglutaconic Aciduria, Type Iii 3-alpha Methylglutaconic Aciduria Type Iii	MICOS13 OPA3	Gene Disease Literature AI	Disease Literature AI (30)	GARD: 0005663 OMIM: 258501 Orphanet: 67047	PubMed

Showing 1 to 25 of 2,142 entries