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
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
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
5q14.3 Microdeletion Syndrome 5q14.3 Deletion Syndrome 5q14.3 Microdeletion Syndrome	MEF2C	Gene Disease Literature AI	Disease Literature AI (9)	GARD: 0012166 OMIM: 613443 Orphanet: 228384	PubMed
6q25 Microdeletion Syndrome Chromosome 6q25 Microdeletion Syndrome Del(6)(q25)	ARID1B	Gene Disease Literature AI	Disease Literature AI (548)	GARD: 0003764 OMIM: 612863 Orphanet: 251056	PubMed
8p23.1 Microdeletion Syndrome 8p23.1 Deletion Chromosome 8p23.1 Deletion	GATA4	Gene Disease Literature AI	Disease Literature AI (129)	GARD: 0003769 Orphanet: 251071	PubMed
8q24.3 Microdeletion Syndrome Chromosome 8q24.3 Deletion Syndrome Del(8)(q24.3)	PUF60	Gene Disease Literature AI	Disease Literature AI (18)	GARD: 0012814 OMIM: 615583 Orphanet: 508488	PubMed
Abetalipoproteinemia Abl Abl - Abetalipoproteinemia	MTTP	Gene Disease Literature AI	Disease Literature AI (1024)	GARD: 0000005 OMIM: 605019 Orphanet: 14	PubMed
Amish Lethal Microcephaly Amish Lethal Microcephaly Amish Microcephaly	SLC25A19	Gene Disease Literature AI	Disease Literature AI (11)	GARD: 0008606 OMIM: 607196 Orphanet: 99742	PubMed
Anophthalmia/microphthalmia-esophageal Atresia Syndrome Aeg Syndrome Anophthalmia, Clinical, With Associated Anomalies	SOX2	Gene Disease Literature AI	Disease Literature AI (25)	GARD: 0001443 OMIM: 206900 Orphanet: 77298	PubMed

Showing 1 to 25 of 107 entries (filtered from 2,142 total entries)