Orphan disease network

Orphan diseases network

4. Bipartite network - All diseases connected to more than 3 genes



This table contains the exhaustive list of each orphan disease and each related gene as rows, and the corresponding weakly connected component ID. You can explore any connected component by clicking on its ID, or start exploring by a specific node by clicking on its name.

Orphan diseases and related genes interactive list
Disease or gene name Connected component ID
ABCA40
ABCC90
ACAN0
ACTA20
ACTC10
ACTG10
ACTN20
ACVR2B0
ADAM90
AHI10
AIPL10
ALS20
ANG0
ANK20
APOE0
APP0
ARL13B0
ARL60
ARVCF0
ATP6V0A20
ATP7A0
ATXN10
ATXN20
ATXN30
ATXN70
ATXN80
Achromatopsia0
Alzheimer disease, familial0
Amyotrophic lateral sclerosis0
Anophthalmia - Microphthalmia, isolated0
Arrhythmogenic right ventricular dysplasia0
Atrial fibrillation, familial0
Autosomal dominant Charcot-Marie-Tooth disease, type 20
Autosomal dominant cerebellar ataxia0
BAZ1B0
BBS10
BBS100
BBS120
BBS20
BBS40
BBS50
BBS70
BBS90
BCKDHA0
BCKDHB0
BCL7B0
BCR0
BCS1L0
BFSP10
BFSP20
BSND0
Bardet-Biedl syndrome0
Bartter syndrome0
C14orf1040
C1QTNF50
C20orf70
C8orf380
CA40
CABP40
CACNA1A0
CACNA1C0
CACNA1F0
CACNA2D40
CAV30
CBFB0
CC2D2A0
CCDC500
CDH230
CEP2900
CERKL0
CFC10
CFC1B0
CHMP2B0
CHMP4B0
CHST30
CLCNKA0
CLCNKB0
CLDN140
CLIP20
CLRN10
CNGA10
CNGA30
CNGB10
CNGB30
COCH0
COL11A10
COL11A20
COL17A10
COL2A10
COL7A10
COL9A10
COL9A20
COL9A30
COMP0
COX100
COX150
CRB10
CRX0
CRYAA0
CRYAB0
CRYBA10
CRYBA40
CRYBB10
CRYBB20
CRYBB30
CRYGC0
CRYGD0
CRYM0
CSRP30
Cardiomyopathy, familial dilated0
Cardiomyopathy, hypertrophic, primary or idiopathic0
Cataract, cerulean0
Cataract, posterior polar0
Cataract, pulverulent0
Cataract, zonular0
Charcot-Marie-Tooth disease, type 10
Coenzyme Q cytochrome c reductase deficiency0
Colon cancer, familial nonpolyposis0
Cone rod dystrophy0
Conotruncal heart malformations0
Cutis laxa0
DBT0
DDR20
DES0
DFNA50
DFNB310
DFNB590
DIAPH10
DLAT0
DLD0
DMD0
DNAH110
DNAH50
DNAI10
DNAI20
DNAJC300
DSC20
DSG20
DSP0
Deafness, autosomal dominant, nonsyndromic, sensorineural, type DFNA0
Deafness, autosomal recessive, nonsyndromic, sensorineural, type DFNB0
Dejerine-Sottas syndrome0
EFEMP20
EGR20
EIF4H0
ELN0
EMD0
EPHA20
ESPN0
ESRRB0
ETV60
EYA40
Emery-Dreifuss muscular dystrophy0
Epidermolysis bullosa, epidermolytic0
Epidermolysis bullosa, generalized atrophic benign0
Epidermolysis bullosa, junctional0
Epidermolysis bullosa, junctional, non-Herlitz type0
Epiphyseal dysplasia multiple0
FBLN50
FBN10
FGF140
FHL20
FIG40
FKBP60
FKRP0
FKTN0
FLT30
FSCN20
FUS0
Fatal infantile cytochrome C oxidase deficiency0
Frontotemporal dementia0
GARS0
GATA40
GDAP10
GDF10
GJA10
GJA30
GJA80
GJB20
GJB30
GJB60
GLIS20
GNAT10
GNAT20
GPR980
GRHL20
GRM60
GRN0
GTF2I0
GTF2IRD10
GTPBP30
GUCA1A0
GUCA1B0
GUCY2D0
HGF0
HMCN10
HSF40
HSPB10
HSPB80
HTRA10
Heterotaxia0
IDH3B0
IFRD10
IMPDH10
INPP5E0
INVS0
IQCB10
ITGA60
ITGB40
Interauricular communication0
JAG10
JUP0
Joubert syndrome0
KCNA50
KCNE10
KCNE20
KCNH20
KCNJ10
KCNJ100
KCNJ20
KCNQ10
KCNQ40
KCNV20
KIF1B0
KLHL70
KRT140
KRT50
LAMA30
LAMB30
LAMC20
LARGE0
LAT20
LCA50
LDB30
LEFTY20
LHFPL50
LIM20
LIMK10
LITAF0
LMNA0
LOX0
LRAT0
LRPPRC0
LRTOMT0
Leber amaurosis, congenital0
Leber hereditary optic neuropathy0
Leigh syndrome0
Leucinosis0
Leukemia, myeloid, acute0
Long QT syndrome, familial0
MAF0
MAPK10
MAPT0
MARVELD20
MATN30
MED13L0
MELAS syndrome0
MERTK0
MFN20
MFRP0
MIP0
MKKS0
MKS10
MLH10
MLH30
MLXIPL0
MMP130
MPZ0
MSH20
MSH60
MT-ATP60
MT-ATP80
MT-CO10
MT-CO30
MT-CYB0
MT-ND10
MT-ND20
MT-ND30
MT-ND40
MT-ND4L0
MT-ND50
MT-ND60
MYBPC30
MYH110
MYH140
MYH60
MYH70
MYH90
MYL20
MYL30
MYLK20
MYO15A0
MYO1A0
MYO3A0
MYO60
MYO7A0
Macular degeneration, age-related0
Meckel syndrome0
Medullary cystic kidney disease, autosomal recessive0
Monosomy 22q110
NADH-CoQ reductase deficiency0
NDUFA10
NDUFA110
NDUFAF20
NDUFAF30
NDUFAF40
NDUFS10
NDUFS20
NDUFS30
NDUFS40
NDUFS60
NDUFS70
NDUFS80
NDUFV10
NDUFV20
NEFH0
NEFL0
NEK80
NKX2-50
NPHP10
NPHP30
NPHP40
NPPA0
NR1H30
NR2E30
NRL0
NUP1550
NYX0
Night blindness, stationary, congenital0
Non-syndromic congenital cataract0
Nonsyndromic genetic deafness0
OFD10
OLR10
OTOA0
OTOF0
OTX20
PAPSS20
PC0
PCDH150
PDE6A0
PDE6B0
PDE6C0
PDE6H0
PDGFRL0
PDHA10
PDHB0
PDHX0
PIK3CA0
PITX30
PKP20
PLEC10
PLEKHG50
PLN0
PMP220
PMS10
PMS20
POMGNT10
POMT10
POMT20
POU3F40
POU4F30
PPP2R2B0
PRCD0
PRKAG20
PRKCG0
PROM10
PRPF30
PRPF310
PRPF80
PRPH0
PRPH20
PRX0
PSEN10
PSEN20
Primary ciliary dyskinesia0
Progressive cone dystrophy0
Pyruvate dehydrogenase deficiency0
RAB7A0
RAX0
RAX20
RD30
RDH120
RDX0
RFC20
RGR0
RHO0
RIMS10
RLBP10
ROM10
RP10
RP20
RP90
RPE650
RPGR0
RPGRIP10
RPGRIP1L0
RSPH4A0
RSPH90
RYR20
Retinitis pigmentosa0
SCN4B0
SCN5A0
SCO10
SCO20
SDHA0
SEMA4A0
SETX0
SGCD0
SLC12A10
SLC17A80
SLC26A20
SLC26A40
SLC26A50
SOD10
SPATA70
SPTBN20
STRC0
SURF10
SYNE10
SYNE20
Senior-Loken syndrome0
Situs ambiguus0
Spondyloepimetaphyseal dysplasia0
Spondyloepiphyseal dysplasia0
Stickler syndrome0
TACO10
TARDBP0
TAZ0
TBL20
TBP0
TBX10
TCAP0
TECTA0
TFB1M0
TGFB30
TGFBR10
TGFBR20
TMC10
TMEM430
TMEM670
TMIE0
TMPO0
TMPRSS30
TNNC10
TNNI30
TNNT20
TOPORS0
TPM10
TRAPPC20
TRIM320
TRIOBP0
TRMU0
TTC80
TTN0
TULP10
TXNDC30
Tetralogy of Fallot0
Thoracic aortic aneurysm, familial form0
Transposition of the great arteries0
Transposition of the great arteries, right0
UFD1L0
UQCRB0
UQCRQ0
USH1C0
USH1G0
USH2A0
Usher syndrome0
VAPB0
VCL0
VSX20
WBSCR160
WBSCR220
WBSCR270
WFS10
WISP30
Walker-Warburg syndrome0
Williams syndrome0
ZFPM20
ZIC30
DIRC11
DIRC21
EGLN11
EPAS11
EPOR1
FHIT1
HIF1A1
HSPBAP11
OGG11
Primary familial polycythemia1
RNF1391
Renal cell carcinoma, familial1
VHL1
Adrenoleukodystrophy, neonatal2
HSD17B42
PEX12
PEX102
PEX122
PEX132
PEX142
PEX162
PEX192
PEX262
PEX32
PEX52
PEX62
PXMP32
Refsum disease, infantile form2
Zellweger syndrome2
ACSL43
AGTR23
ARHGEF63
ARX3
Atypical Rett syndrome3
BRWD33
CC2D1A3
CDH153
CDKL53
CRBN3
DLG33
FG syndrome3
FLNA3
FOXG13
FTSJ13
GDI13
IL1RAPL13
KIRREL33
MECP23
MED123
NTNG13
PAK33
PRSS123
RPS6KA33
Rare intellectual deficit without developmental anomaly3
SYNGAP13
TSPAN73
TUSC33
UPF3B3
ZNF413
ZNF6743
ZNF813
ACE4
AGT4
AGTR14
REN4
Renal tubular dysgenesis4
ACTA15
CFL25
MYH35
Mild nemaline myopathy5
NEB5
Nemaline myopathy5
Sheldon-Hall syndrome5
TNNI25
TNNT15
TNNT35
TPM25
TPM35
Beckwith-Wiedemann syndrome6
CDKN1C6
COPG26
CPA46
GRB106
IGF26
MEST6
NSD16
SLC22A186
Silver-Russell syndrome6
ANK17
EPB427
SLC4A17
SPTA17
SPTB7
Spherocytosis hereditary7
BMP48
Cleft lip with or without cleft palate8
FBXW48
IRF68
PVRL18
SHFM18
SUMO18
Split hand - split foot8
TGFA8
TP638
WNT10B8
HLA-DRB19
LOC1002941619
LOC1002941899
LOC1002944689
Sarcoidosis9
CLINT110
DISC110
FXYD610
PRODH10
RGS410
Schizophrenia10
C10orf211
DGUOK11
MPV1711
Mitochondrial DNA depletion syndrome11
POLG11
POLG211
Progressive external ophthalmoplegia11
SLC25A411
TK211
TYMP11
ASPM12
BARD112
BRCA112
BRCA212
BRIP112
Breast cancer, familial12
CDK5RAP212
CENPJ12
CHEK212
CYP11A112
CYP11B112
CYP17A112
CYP21A212
Congenital adrenal hyperplasia12
ELAC212
EPHB212
FANCA12
FANCB12
FANCC12
FANCD212
FANCE12
FANCF12
FANCG12
FANCI12
FANCL12
FANCM12
Fanconi anemia12
HLF12
HNF1B12
HSD17B312
HSD3B212
ING112
ING312
LMO112
LYL112
Leukemia, lymphoblastic, acute12
MCPH112
MLL12
MXI112
Microcephaly, isolated congenital12
PALB212
PBX112
PDGFRA12
PTEN12
Prostate cancer, familial12
RAD5112
RNASEL12
SRD5A212
STIL12
Squamous cell carcinoma of head and neck12
TAL112
TAL212
TCF312
TLX112
TNFRSF10B12
BMP1513
DIAPH213
FMR113
FOXL213
FSHR13
NOBOX13
POF1B13
Premature ovarian failure13
MAGEL214
NDN14
OCA214
Oculocutaneous albinism14
Prader-Willi syndrome14
SLC45A214
SNRPN14
TYR14
TYRP114
CSF2RA15
CSF2RB15
Pulmonary alveolar proteinosis15
SFTPB15
SFTPC15
NR3C216
Pseudohypoaldosteronism, type 116
SCNN1A16
SCNN1B16
SCNN1G16
COFS syndrome17
DDB217
ERCC117
ERCC217
ERCC317
ERCC417
ERCC517
ERCC617
POLH17
XPA17
XPC17
Xeroderma pigmentosum17
ALK18
ASCL118
BDNF18
CCDC618
ECE118
EDN318
EDNRB18
ERC118
GDNF18
GOLGA518
Hirschsprung disease18
L1CAM18
MYCN18
NCOA418
NME118
NRTN18
Neuroblastoma18
Ondine syndrome18
PCM118
PHOX2B18
RET18
TFG18
TPR18
TRIM2418
TRIM2718
TRIM3318
Thyroid carcinoma, papillary or follicular18
SS1819
SSX119
SSX219
SSX2B19
SSX2IP19
Synovialosarcoma19
Encephalopathy due to sulfite oxidase deficiency20
GLRA120
GLRB20
GPHN20
Hyperekplexia, hereditary20
MOCOS20
MOCS120
MOCS220
SLC6A520
SUOX20
XDH20
Xanthinuria20
CYP27B121
CYP2R121
Calcinosis, tumoral21
DMP121
FGF2321
GALNT321
KL21
PHEX21
SAMD921
SLC34A321
VDR21
Vitamin D resistant rickets21
Leukemia, promyelocytic, acute22
NPM122
PML22
RARA22
ZBTB1622
CLN323
CLN523
CLN623
CLN823
CTSD23
Late infantile neuronal ceroid lipofuscinosis23
MFSD823
Neuronal ceroid lipofuscinosis23
PPT123
TPP123
CHD724
FGF824
FGFR124
GNRH124
GNRHR24
KAL124
KISS1R24
Kallmann syndrome24
NELF24
Normosmic congenital hypogonadotropic hypogonadism24
PROK224
PROKR224
TAC324
TACR324
ABCC825
CEL25
Diabetes mellitus, neonatal25
Diabetes mellitus, neonatal, permanent25
GCK25
HADH25
HNF1A25
HNF4A25
INS25
INSR25
KCNJ1125
KLF1125
MODY syndrome25
NEUROD125
PAX425
PDX125
PTF1A25
Persistent hyperinsulinemic hypoglycemia of infancy25
SLC16A125
ZFP5725
CHAT26
CHRNA126
CHRNB126
CHRND26
CHRNE26
CHRNG26
COLQ26
Congenital myasthenic syndromes26
DOK726
LAMB226
MUSK26
Multiple pterygium syndrome, lethal form26
Postsynaptic congenital myasthenic syndromes26
RAPSN26
SCN4A26
GNS27
HGSNAT27
Mucopolysaccharidosis type 327
NAGLU27
SGSH27
KRT8128
KRT8328
KRT8628
LOC10029335128
Monilethrix28
BCL1029
BIRC329
FOXP129
MALT lymphoma29
MALT129
APOA530
APOC230
GPIHBP130
LIPI30
LPL30
Major hypertriglyceridemia30
IFNGR131
IFNGR231
IL12B31
IL12RB131
Mendelian susceptibility to atypical mycobacteria31
STAT131
APC32
CTNNB132
Medulloblastoma32
PTCH232
SUFU32
BRAF33
CDKN2A33
Cardiofaciocutaneous syndrome33
DMBT133
EGFR33
GLI133
GLTSCR133
GLTSCR233
Glioblastoma33
KRAS33
LRRN233
MANF33
MAP2K133
MAP2K233
Noonan syndrome33
PTPN1133
Pancreatic carcinoma, familial33
RAF133
SMAD433
SOS133
TP5333
YEATS433
MTHFD134
MTHFR34
MTR34
Neural tube defect34
T34
VANGL134
HESX135
LHX335
Nonacquired combined pituitary hormone deficiency35
POU1F135
PROP135
GJC236
HSPD136
PLP136
Pelizaeus-Merzbacher disease36
SLC16A236
ATP13A237
GIGYF237
HTRA237
LRRK237
NR4A237
PACRG37
PARK237
PARK737
PINK137
Parkinson disease, genetic type37
SNCA37
UCHL137
CYP1B138
FOXC138
Glaucoma, congenital38
Glaucoma, hereditary38
HDAC938
LTBP238
MYOC38
OPTN38
PAX638
PITX238
Peters anomaly38
TGFB238
WDR3638
Pontocerebellar hypoplasia39
RARS239
TSEN239
TSEN3439
TSEN5439
GPR5640
NHEJ140
Polymicrogyria40
SRPX240
TUBB2B40
ALAS241
FECH41
HAMP41
HFE41
HFE241
Hemochromatosis41
Porphyria41
TFR241
UROD41
UROS41
DCLRE1C42
LIG442
Omenn syndrome42
RAG142
RAG242
KRT1643
KRT1743
KRT6A43
KRT6B43
Pachyonychia congenita43
COL1A144
COL1A244
COL3A144
COL5A144
COL5A244
CRTAP44
Classic Ehlers-Danlos syndrome44
LEPRE144
Osteogenesis imperfecta44
TNXB44
DKC145
Dyskeratosis congenita45
IFNG45
Idiopathic aplastic anemia45
NHP245
NOP1045
PRF145
SBDS45
TERT45
TINF245
Crohn disease46
IL1046
IL23R46
NOD246
SLC22A446
Crigler-Najjar syndrome47
Gilbert syndrome47
Hyperbilirubinemia transient familial neonatal47
UGT1A147
UGT1A1047
UGT1A347
UGT1A447
UGT1A547
UGT1A647
UGT1A747
UGT1A847
UGT1A947
GABRD48
GABRG248
Generalized epilepsy with febrile seizures-plus context48
SCN1A48
SCN1B48
SCN2A48
ERG49
ETV149
EWSR149
Ewing sarcoma49
FLI149
NR4A349
ABCA1250
ABHD550
ALOX12B50
ALOXE350
CYP4F2250
Erythroderma, congenital ichthyosiform, nonbullous50
Ichthyosis, lamellar50
KRT150
KRT1050
TGM150
FOXH151
GLI251
Holoprosencephaly51
PTCH151
SHH51
SIX351
TDGF151
TGIF151
ZIC251
ABCG552
ABCG852
APOB52
Hypercholesterolemia, familial52
LDLR52
LDLRAP152
PCSK952
SREBF252
Hereditary pheochromocytoma-paraganglioma syndrome53
SDHAF253
SDHB53
SDHC53
SDHD53
BLOC1S354
DTNBP154
HPS154
HPS354
HPS454
HPS554
HPS654
Hermansky-Pudlak syndrome54
CYBA55
CYBB55
Granulomatous disease, chronic55
NCF155
NCF255
NCF455
CFTR56
CTRC56
Hereditary chronic pancreatitis56
PRSS156
PRSS256
REG1A56
SPINK156
ETFA57
ETFB57
ETFDH57
GCDH57
Glutaryl-CoA dehydrogenase deficiency57
DHH58
DMRT158
DMRT258
Gonadal dysgenesis, XY female type58
NR0B158
NR5A158
SRY58
ABCD159
AMN59
CUBN59
DHFR59
Graesbeck-Imerslund disease59
Atypical hemolytic uremic syndrome60
C260
C360
C4A60
C4B60
C560
C660
C760
C8A60
C8B60
C8G60
C960
CD4660
CFH60
CFI60
Immunodeficiency with a complement cascade protein anomaly60
SERPING160
CACNB461
EFHC161
GABRA161
JRK61
Juvenile myoclonic epilepsy61
KCNQ361
CIITA62
Immunodeficiency by defective expression of HLA class 262
RFX562
RFXANK62
RFXAP62
TAP262
Iminoglycinuria63
SLC36A263
SLC6A1863
SLC6A1963
SLC6A2063
DUOX264
DUOXA264
Hypothyroidism, congenital64
IYD64
NKX2-164
PAX864
SLC5A564
TPO64
TRH64
TSHB64
TSHR64
AICDA65
CD4065
Hyper-IgM syndrome65
IKBKG65
UNG65
AXIN266
EDA66
Hypodontia66
MSX166
PAX966
WNT10A66
AUTS267
Autism67
EN267
GABRB367
MET67
NLGN367
NLGN4X67
NRXN167
RPL1067
Autosomal dominant centronuclear myopathy68
BIN168
Centronuclear myopathy68
DNM268
MAMLD168
MTM168
MTMR1468
MYF668
RYR168
Autoimmune lymphoproliferative syndrome69
CASP1069
CASP869
FAS69
FASLG69
Autosomal recessive spondylocostal dysostosis70
DLL370
HES770
LFNG70
MESP270
Autosomal recessive malignant osteopetrosis71
CLCN771
OSTM171
TCIRG171
TNFRSF11A71
TNFSF1171
AKR1D172
AMACR72
Bile acid synthesis defect with cholestasis and malabsorption72
CYP7B172
HSD3B772
Blackfan-Diamond disease73
RPL1173
RPL35A73
RPL573
RPS1773
RPS1973
RPS2473
RPS773
CACH syndrome74
Congenital or early infantile CACH syndrome74
Cree leukoencephalopathy74
EIF2B174
EIF2B274
EIF2B374
EIF2B474
EIF2B574
Juvenile or adult CACH syndrome74
Late infantile CACH syndrome74
Ovarioleukodystrophy74
BMPR1B75
Brachydactyly75
GDF575
HOXD1375
IHH75
ROR275
Chromosome Y deletion76
DAZ176
DAZ276
DAZ376
DAZ476
DDX3Y76
RBMY1A176
USP9Y76
CHST677
COL8A277
Corneal dystrophy77
DCN77
KRT1277
KRT377
PIKFYVE77
SLC4A1177
TACSTD277
TGFBI77
VSX177
ZEB177
APOA178
APOA278
Amyloid nephropathy, familial78
Amyloidosis78
CST378
FGA78
GSN78
IGHG178
LYZ78
TTR78
AMELX79
Amelogenesis imperfecta79
DLX379
ENAM79
FAM83H79
KLK479
MMP2079
Aicardi-Goutieres syndrome80
RNASEH2A80
RNASEH2B80
RNASEH2C80
SAMHD180
TREX180

The exploration is done with the Adobe Flash Web application GexfWalker. (Hint: find a specific orphan disease or related gene by searching it with the search feature of your web browser)