Hereditary spastic paraplegia
Spastic paraplegia
67 genes
Show details
58 of 67 corroborated by 2+ sources
NIPA1 (4) ,
ABCD1 (1) ,
ALDH18A1 (4) ,
SLC16A2 (1) ,
ALS2 (2) ,
AP4M1 (2) ,
ARSI (3) ,
MTRFR (3) ,
SETX (1) ,
SPG11 (4) ,
USP8 (3) ,
UCHL1 (5) +55 more
0.432
0.663
3.88e-125
5.85e-123
✓ sig.
Cluster 244 →
Cardiomyopathy
Dilated cardiomyopathy
107 genes
Show details
74 of 107 corroborated by 2+ sources
PRDM16 (4) ,
COMT (1) ,
PSEN1 (6) ,
ABCC9 (7) ,
ACTN2 (7) ,
CTNNA3 (1) ,
DMD (6) ,
DSG2 (7) ,
EYA4 (5) ,
FHOD3 (4) ,
JUP (1) ,
KCNE2 (1) +95 more
0.260
0.439
9.72e-128
1.48e-125
✓ sig.
Cluster 369 →
Eczema
Inflammatory skin disease
76 genes
Show details
IFIH1 (1) ,
BLTP1 (1) ,
ANO3 (1) ,
CSMD1 (1) ,
EBF1 (1) ,
ELMO1 (1) ,
EMSY (1) ,
MGMT (1) ,
PTPRN2 (1) ,
RAP1GAP2 (1) ,
RASIP1 (1) ,
SMARCA4 (1) +64 more
0.208
1.000
8.22e-128
1.26e-125
✓ sig.
Cluster 252 →
Hepatocellular carcinoma
Non-hodgkins lymphoma
110 genes
Show details
6 of 110 corroborated by 2+ sources
ANKRD11 (1) ,
HNF1B (1) ,
MAP3K1 (1) ,
SH2B3 (1) ,
TERT (2) ,
TP53 (4) ,
ARHGEF10L (1) ,
ASIP (1) ,
BAD (1) ,
BNC2 (1) ,
CELF2 (1) ,
DCAF4 (1) +98 more
0.163
0.815
1.94e-129
3.00e-127
✓ sig.
Cluster 67 →
Attention deficit hyperactivity disorder
Bipolar disorder
350 genes
Show details
85 of 350 corroborated by 2+ sources
SOX5 (1) ,
NFIX (2) ,
NFIA (1) ,
RERE (1) ,
COMT (2) ,
HDAC4 (1) ,
DHH (1) ,
ZFPM2 (1) ,
ATP2A2 (1) ,
CDK10 (1) ,
CACNA1D (3) ,
ALMS1 (1) +338 more
0.177
0.317
1.74e-130
2.70e-128
✓ sig.
Cluster 2 →
Alzheimer disease
Dementia
333 genes
Show details
27 of 333 corroborated by 2+ sources
HNF1B (1) ,
NFIX (1) ,
ZFPM2 (1) ,
APP (7) ,
PSEN1 (6) ,
PRRX1 (1) ,
AIPL1 (1) ,
TPCN2 (1) ,
ABCA1 (2) ,
ABCA7 (4) ,
ABI3 (2) ,
ACE (2) +321 more
0.134
0.564
8.54e-132
1.34e-129
✓ sig.
Cluster 2 →
Major depressive disorder
Neurotic disorder
268 genes
Show details
20 of 268 corroborated by 2+ sources
SOX5 (1) ,
CYP17A1 (1) ,
PAFAH1B1 (1) ,
KANSL1 (1) ,
RERE (1) ,
PDE4D (2) ,
ARHGAP15 (1) ,
ARHGEF10L (1) ,
ARL17B (1) ,
AS3MT (1) ,
BNC2 (1) ,
CACNA1E (1) +256 more
0.126
0.616
3.73e-132
5.88e-130
✓ sig.
Cluster 2 →
Glaucoma
Open angle glaucoma
118 genes
Show details
25 of 118 corroborated by 2+ sources
PRDM16 (1) ,
LTBP3 (1) ,
CHEK2 (1) ,
RUNX1 (1) ,
ABCA1 (1) ,
ANKH (1) ,
ANTXR1 (1) ,
APOE (2) ,
BCAS3 (1) ,
BNC2 (1) ,
CADM2 (1) ,
CDKN2B (4) +106 more
0.243
0.504
1.41e-132
2.24e-130
✓ sig.
Cluster 240 →
complex neurodevelopmental disorder
Neurodevelopmental disorder
113 genes
Show details
112 of 113 corroborated by 2+ sources
CHD8 (3) ,
GABRD (2) ,
HNRNPU (4) ,
CACNA1D (2) ,
CHD2 (4) ,
CNTNAP2 (2) ,
CUL3 (6) ,
DLGAP2 (2) ,
EPB41L1 (2) ,
GIGYF1 (4) ,
GNB2 (5) ,
GRIA1 (2) +101 more
0.120
0.958
8.38e-133
1.34e-130
✓ sig.
Cluster 6 →
Autoimmune disease
Autoimmune thyroid disease
87 genes
Show details
7 of 87 corroborated by 2+ sources
SH2B3 (1) ,
ADGRL2 (1) ,
ANKRD55 (1) ,
ATXN2L (1) ,
C12orf42 (1) ,
CAMK4 (1) ,
DAG1 (1) ,
ELMO1 (1) ,
ERBB3 (1) ,
FAM76B (1) ,
FUT2 (1) ,
GIGYF1 (1) +75 more
0.335
0.604
2.91e-133
4.69e-131
✓ sig.
Cluster 39 →
Cardiovascular disease
Hypertension
220 genes
Show details
46 of 220 corroborated by 2+ sources
CYP11B2 (2) ,
CASZ1 (1) ,
PRDM16 (1) ,
RERE (1) ,
ZFPM2 (1) ,
POLR1A (1) ,
PIK3R1 (1) ,
SH2B3 (1) ,
ADK (1) ,
CACNA1D (1) ,
ALG9 (1) ,
ACE (3) +208 more
0.162
0.509
5.38e-135
8.75e-133
✓ sig.
Cluster 78 →
Testicular carcinoma
Testicular germ cell tumor
53 genes
Show details
6 of 53 corroborated by 2+ sources
HNF1B (1) ,
DMRT1 (1) ,
GATA4 (1) ,
PIK3CD (1) ,
TERT (1) ,
ATF7IP (1) ,
CENPE (1) ,
GAB2 (1) ,
HEATR3 (1) ,
LIPG (1) ,
MAD1L1 (2) ,
PDE8A (1) +41 more
0.779
0.883
8.06e-136
1.32e-133
✓ sig.
—
Diabetes mellitus type 1
Rheumatoid arthritis
188 genes
Show details
72 of 188 corroborated by 2+ sources
CAT (2) ,
CP (2) ,
SH2B3 (3) ,
BLTP1 (1) ,
AFF3 (3) ,
ANKRD55 (3) ,
BTNL2 (2) ,
CCRL2 (1) ,
DGKQ (1) ,
EMSY (1) ,
ERBB3 (1) ,
ETS1 (2) +176 more
0.197
0.394
1.83e-136
3.03e-134
✓ sig.
Cluster 28 →
Hearing loss
Nonsyndromic hearing loss
97 genes
Show details
95 of 97 corroborated by 2+ sources
CEACAM16 (3) ,
CLIC5 (4) ,
COL11A1 (4) ,
ESRRB (3) ,
EYA4 (4) ,
GIPC3 (3) ,
LMX1A (6) ,
MYO15A (4) ,
OTOF (2) ,
OTOGL (2) ,
PCDH15 (5) ,
THOC1 (3) +85 more
0.237
0.822
1.09e-138
1.82e-136
✓ sig.
Cluster 26 →
Dermatologic disorder
Skin disease
68 genes
Show details
66 of 68 corroborated by 2+ sources
PTEN (2) ,
SCD (1) ,
CCRL2 (2) ,
ERCC2 (2) ,
INPP5A (3) ,
PDE4B (2) ,
GSTO1 (2) ,
HSPA1B (2) ,
IL10 (1) ,
IL1A (2) ,
IL1B (2) ,
MTHFR (2) +56 more
0.382
1.000
5.03e-139
8.44e-137
✓ sig.
Cluster 29 →
Rheumatoid arthritis
Systemic lupus erythematosus
216 genes
Show details
84 of 216 corroborated by 2+ sources
CAT (2) ,
SH2B3 (3) ,
TP63 (1) ,
TPCN2 (1) ,
BLTP1 (1) ,
AFF3 (3) ,
ANKRD55 (3) ,
BTNL2 (2) ,
DDX6 (3) ,
DGKQ (1) ,
ESR2 (1) ,
ETS1 (4) +204 more
0.196
0.330
1.66e-139
2.82e-137
✓ sig.
Cluster 28 →
Colorectal cancer
Lung cancer
254 genes
Show details
10 of 254 corroborated by 2+ sources
ANKRD11 (1) ,
HNF1B (1) ,
KANSL1 (1) ,
RREB1 (1) ,
MAP3K1 (1) ,
SH2B3 (1) ,
CHEK2 (2) ,
RTEL1 (1) ,
TERT (1) ,
ADAR (1) ,
TP53 (3) ,
ADCY8 (1) +242 more
0.185
0.391
3.99e-141
6.80e-139
✓ sig.
Cluster 20 →
Ankylosing spondylitis
Autoimmune disease
112 genes
Show details
52 of 112 corroborated by 2+ sources
SH2B3 (1) ,
ADGRL2 (1) ,
AICDA (2) ,
ANKRD55 (1) ,
ATXN2L (1) ,
C1S (2) ,
CRYBB2 (2) ,
DAG1 (1) ,
FUT2 (1) ,
IGF2 (1) ,
IKZF1 (3) ,
LRRK2 (1) +100 more
0.277
0.554
2.10e-141
3.61e-139
✓ sig.
—
Intellectual developmental disorder, x-linked
X-linked intellectual disability
63 genes
Show details
62 of 63 corroborated by 2+ sources
SOX3 (6) ,
FGD1 (2) ,
ATRX (1) ,
DMD (3) ,
FRMPD4 (6) ,
SLC9A7 (5) ,
GDI1 (7) ,
GRIA3 (5) ,
OPHN1 (7) ,
CASK (6) ,
MECP2 (7) ,
MED12 (4) +51 more
0.624
0.851
2.95e-142
5.12e-140
✓ sig.
Cluster 115 →
Bone fragility with contractures, arterial rupture, and deafness
Osteoporosis-pseudoglioma syndrome
49 genes
Show details
2 of 49 corroborated by 2+ sources
ALPL (1) ,
BMP1 (1) ,
CCDC134 (1) ,
GORAB (1) ,
NBAS (1) ,
SERPINF1 (1) ,
TENT5A (1) ,
XYLT1 (1) ,
AMBN (1) ,
SEC16B (1) ,
COL1A1 (1) ,
SLC10A7 (1) +37 more
0.980
1.000
4.28e-143
7.49e-141
✓ sig.
Cluster 68 →
Non-neoplastic peripheral nervous system disease
Peripheral nervous system disease
52 genes
Show details
52 of 52 corroborated by 2+ sources
DPYD (2) ,
SLC12A6 (2) ,
GFAP (2) ,
ABCA1 (2) ,
CACNA1H (2) ,
ERCC1 (2) ,
MMP3 (2) ,
TCF4 (2) ,
GSTP1 (2) ,
ICAM1 (2) ,
IGF1 (2) ,
IGF1R (2) +40 more
0.929
0.981
1.19e-145
2.10e-143
✓ sig.
Cluster 243 →
Biliary tract cancer
Hepatocellular carcinoma
111 genes
Show details
8 of 111 corroborated by 2+ sources
ANKRD11 (1) ,
HNF1B (1) ,
MAP3K1 (1) ,
SH2B3 (1) ,
TERT (2) ,
TP53 (4) ,
ARHGEF10L (1) ,
ASIP (1) ,
BAD (1) ,
BNC2 (1) ,
CELF2 (1) ,
DCAF4 (1) +99 more
0.169
0.941
6.28e-147
1.12e-144
✓ sig.
Cluster 67 →
Global developmental delay
Intellectual developmental disorder
191 genes
Show details
64 of 191 corroborated by 2+ sources
FOXG1 (2) ,
UBE3A (1) ,
ANKRD11 (1) ,
KANSL1 (2) ,
BPTF (1) ,
NFIX (1) ,
SHANK3 (2) ,
WWOX (1) ,
PTEN (2) ,
ACTL6A (1) ,
ADNP (1) ,
VCP (1) +179 more
0.193
0.516
1.60e-148
2.87e-146
✓ sig.
Cluster 6 →
Asthma
Respiratory system disease
174 genes
Show details
22 of 174 corroborated by 2+ sources
RERE (1) ,
CEBPA (1) ,
RTEL1 (1) ,
RUNX1 (1) ,
ARHGAP15 (1) ,
BCL3 (1) ,
CARD11 (2) ,
CCR7 (1) ,
DOCK3 (1) ,
EMSY (1) ,
ETS1 (1) ,
FADS1 (1) +162 more
0.153
0.722
1.46e-149
2.64e-147
✓ sig.
Cluster 252 →
Breast cancer
Lung cancer
272 genes
Show details
12 of 272 corroborated by 2+ sources
ANKRD11 (1) ,
HNF1B (1) ,
KANSL1 (1) ,
RREB1 (1) ,
MAP3K1 (2) ,
PDE4D (1) ,
SH2B3 (1) ,
CHEK2 (1) ,
RTEL1 (1) ,
TERT (1) ,
TP53 (4) ,
TP63 (1) +260 more
0.189
0.419
1.84e-150
3.35e-148
✓ sig.
Cluster 20 →