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Table 3 Novel predictions of domain-disease and gene-disease associations

From: Inference of domain-disease associations from domain-protein, protein-disease and disease-disease relationships

Rank Disease OMIMd Module Index Domain Pfam Gene OMIMg
1 APNEA, OBSTRUCTIVE SLEEP 107650 152 Acetyltransf_1 PF00583 NAA10 300013
AANAT 600950
2 ARTERIES, ANOMALIES OF 108000 182 Sugar_tr PF00083 SLC2A1 138140
SLC2A2 138160
SLC2A9 606142
SLC2A10 606145
3 ATRESIA OF EXTERNAL AUDITORY CANAL AND CONDUCTIVE DEAFNESS 108760 133 zf-C2H2_2 PF12756 TSHZ1 614427
4 CELIAC ARTERY STENOSIS FROM COMPRESSION BY MEDIAN ARCUATE LIGAMENT OF DIAPHRAGM 116870 182 Sugar_tr PF00083 SLC2A1 138140
SLC2A2 138160
SLC2A9 606142
SLC2A10 606145
5 SCHNYDER CORNEAL DYSTROPHY; SCCD 121800 77 Fasciclin PF02469 TGFBI 601692
6 CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE; EBMD 121820 77 Fasciclin PF02469 TGFBI 601692
7 CORNEAL DYSTROPHY, GROENOUW TYPE I; CDGG1 121900 77 Fasciclin PF02469 TGFBI 601692
8 CORNEAL DYSTROPHY, MEESMANN; MECD 122100 77 Fasciclin PF02469 TGFBI 601692
9 CORNEAL DYSTROPHY, LATTICE TYPE I; LCD1 122200 77 Fasciclin PF02469 TGFBI 601692
10 CORONARY ARTERY DISSECTION, SPONTANEOUS 122455 182 Sugar_tr PF00083 SLC2A1 138140
SLC2A2 138160
SLC2A9 606142
SLC2A10 606145
11 DEAFNESS, CONDUCTIVE STAPEDIAL, WITH EAR MALFORMATION AND FACIAL PALSY 124490 137 Endothelin PF00322 EDN1 131240
EDN3 131242
12 EAR FOLDING 128500 137 Endothelin PF00322 EDN1 131240
EDN3 131242
13 PREAURICULAR FISTULAE, CONGENITAL 128700 137 Endothelin PF00322 EDN1 131240
EDN3 131242
14 EAR PITS, POSTERIOR HELICAL 128710 137 Endothelin PF00322 EDN1 131240
EDN3 131242
15 EAR WITHOUT HELIX 128800 137 Endothelin PF00322 EDN1 131240
EDN3 131242
16 EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL TALUS 133705 133 zf-C2H2_2 PF12756 TSHZ1 614427
17 FIBROMUSCULAR DYSPLASIA OF ARTERIES 135580 182 Sugar_tr PF00083 SLC2A1 138140
SLC2A2 138160
SLC2A9 606142
SLC2A10 606145
18 GLAUCOMA AND SLEEP APNEA 137763 152 Acetyltransf_1 PF00583 NAA10 300013
AANAT 600950
19 LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL 300260 66 MBD PF01429 MECP2 300005
20 ALPHA-THALASSEMIA 604131 188 Globin PF00042 HBA1 141800
HBA2 141850
HBB 141900
21 HOLT-ORAM SYNDROME; HOS 142900 140 LMBR1 PF04791 LMBR1 605522
22 INTERNAL CAROTID ARTERY, SPONTANEOUS DISSECTION OF 147820 182 Sugar_tr PF00083 SLC2A1 138140
SLC2A2 138160
SLC2A9 606142
SLC2A10 606145
23 LITHIUM TRANSPORT 152420 180 SNF PF00209 SLC6A3 126455
SLC6A19 608893
24 MACULAR DYSTROPHY, FENESTRATED SHEEN TYPE 153890 77 Fasciclin PF02469 TGFBI 601692
25 MULLERIAN APLASIA AND HYPERANDROGENISM 158330 199 wnt PF00110 WNT5A 164975
WNT10B 601906
WNT4 603490
WNT10A 606268
26 OSSIFIED EAR CARTILAGES 165670 137 Endothelin PF00322 EDN1 131240
EDN3 131242
27 ENCHONDROMATOSIS, MULTIPLE, OLLIER TYPE 166000 166 Iso_dh PF00180 IDH2 147650
IDH1 147700
IDH3B 604526
28 MACULAR DYSTROPHY, PATTERNED, 1; MDPT1 169150 77 Fasciclin PF02469 TGFBI 601692
29 RADIAL RAY HYPOPLASIA WITH CHOANAL ATRESIA 179270 140 LMBR1 PF04791 LMBR1 605522
30 QUESTION MARK EARS, ISOLATED; QME 612798 137 Endothelin PF00322 EDN1 131240
EDN3 131242
31 THUMB DEFORMITY 188100 140 LMBR1 PF04791 LMBR1 605522
32 THYROID HORMONE PLASMA MEMBRANE TRANSPORT DEFECT 188560 180 SNF PF00209 SLC6A3 126455
SLC6A19 608893
33 TRACHEOESOPHAGEAL FISTULA WITH OR WITHOUT ESOPHAGEAL ATRESIA 189960 133, 181 zf-C2H2_2 PF12756 TSHZ1 614427
34 TRIGGER THUMB 190410 140 LMBR1 PF04791 LMBR1 605522
35 TRIPHALANGEAL THUMB WITH DOUBLE PHALANGES 190500 140 LMBR1 PF04791 LMBR1 605522
36 TRIPHALANGEAL THUMB, NONOPPOSABLE 190600 140 LMBR1 PF04791 LMBR1 605522
37 UTERINE ANOMALIES 192000 199 wnt PF00110 WNT5A 164975
WNT10B 601906
WNT4 603490
WNT10A 606268
38 UTERUS BICORNIS BICOLLIS WITH PARTIAL VAGINAL SEPTUM AND UNILATERAL HEMATOCOLPOS WITH IPSILATERAL RENAL AGENESIS 192050 199 wnt PF00110 WNT5A 164975
WNT10B 601906
WNT4 603490
WNT10A 606268
39 ACRORENAL-MANDIBULAR SYNDROME 200980 199 wnt PF00110 WNT5A 164975
WNT10B 601906
WNT4 603490
WNT10A 606268
40 ADDUCTED THUMBS SYNDROME 201550 140 LMBR1 PF04791 LMBR1 605522
41 APNEA, CENTRAL SLEEP 207720 152 Acetyltransf_1 PF00583 NAA10 300013
AANAT 600950
42 ARTERIAL TORTUOSITY SYNDROME; ATS 208050 182 Sugar_tr PF00083 SLC2A1 138140
SLC2A2 138160
SLC2A9 606142
SLC2A10 606145
43 AURAL ATRESIA, MULTIPLE CONGENITAL ANOMALIES, AND MENTAL RETARDATION 209770 133, 181 zf-C2H2_2 PF12756 TSHZ1 614427
44 BILIARY ATRESIA, EXTRAHEPATIC; EHBA 210500 133, 181 zf-C2H2_2 PF12756 TSHZ1 614427
45 CITRULLINE TRANSPORT DEFECT 215720 180 SNF PF00209 SLC6A3 126455
SLC6A19 608893
46 CENTRAL CLOUDY DYSTROPHY OF FRANCOIS; CCDF 217600 77 Fasciclin PF02469 TGFBI 601692
47 DEAFNESS, CONDUCTIVE, WITH MALFORMED EXTERNAL EAR 221300 137 Endothelin PF00322 EDN1 131240
EDN3 131242
48 DICARBOXYLIC AMINOACIDURIA; DCBXA 222730 180 SNF PF00209 SLC6A3 126455
SLC6A19 608893
49 DUODENAL ATRESIA 223400 181 zf-C2H2_2 PF12756 TSHZ1 614427
50 HARTNUP DISORDER; HND 234500 180 SNF PF00209 SLC6A3 126455
SLC6A19 608893
  1. “Rank” is the rank of predicted domain-disease associations in terms of Bayesian scores; “Disease” is the name of the disease phenotype, “OMIMd” is ID of disease phenotype in the OMIM database; “Module Index” is the index of module including the disease; “Domain” is the name of domain; “Pfam” is the domain ID in the Pfam database; “Gene” is mapped gene from corresponding domain; and “OMIMg” is the gene ID in the OMIM database. The bold rows represent known domain-disease associations compiled by the Ensembl BioMart tool. The italic rows represent domain-disease associations that are unknown in our study but have at least one known genes in the OMIM database. The bold italic elements in the “OMIMg” column represent that the predicted genes are known as disease genes in the OMIM database