The names of diseases are given in alphabetical order, and in each case the OMIM database accession number is given in parentheses. In the second column, the abbreviation of the human protein is given together with its GenBank accession number. The closest C.elegans ORF (column 3) has been chosen based on the P value (column 4) and length of alignment. No BLAST hit has been obtained for genes responsible for the following human diseases: breast cancer, early onset (600185); congenital adrenal hypoplasia (300200); deafness (220290); Emery–Dreifuss muscular dystrophy (310300); fragile X syndrome (309550); hereditary haemochromatosis (235200); hereditary multi-infarct dementia (CADASIL) (125310); Huntington disease (143100); McLeod syndrome (314850); Norrie disease (310600); obesity (164160); ocular albinism (300500); Von Hippel–Lindau disease (193300); and progressive myoclonous epilepsy (254800). There are no BLAST hits for Mediterranean fever familiar (249100), although homologues with a different domain architecture can be detected.
aThe C.elegans genes hop-1 (50) and spe-4 (51) are additional candidate orthologues of human presenilin genes.
bThe C.elegans locus has been named lis-1.
cA C.elegans full-length cDNA has been cloned and is homologous to the Menkes and Wilson disease genes (52).
dThis cosmid contains the Fer-1 gene.
eTwo other human MTM1 homologues have been characterized and named CeMTMH1 (located on cosmid F24A11 with a P value of 2 x 10–53) and CeMTMH2 (located on cosmid F53A2) (53).
fThis C.elegans locus has been called npc-1, and two other homologues have been found on cosmids F09G8 (npc-2) and C32E8.
gThere are four members of the RecQ family in C.elegans.
Table 1. Caenorhabditis elegans homologues of positionally cloned genes mutated in human disease
Human disease (OMIM nbr)
Human gene (GenBank nbr)
C.elegans ORF
BLASTp (P value)
Aarskog–Scott syndrome (305400)
FGD1 (U11690)
C33D9.1
3.2 x 10–56
Achondroplasia (100800)
FGFR3 (M58051)
F58A3.2
1.7 x 10–89
Adenomatous polyposis coli (175100)
APC (M74088)
K04G2.8A
3.0 x 10–33
Adrenoleukodystrophy, X-linked (300100)
ALD (Z21876)
T02D1.5
1.5 x 10–196
Alzheimer disease, type 3 (104311)
PS1 (L76517)
F35H12.3a
2.4 x 10–79
Alzheimer disease, type 4 (600759)
PS2 (L44577)
F35H12.3
1.4 x 10–81
Amyotrophic lateral sclerosis (105400)
SOD1 (K00065)
C15F1.7
3.2 x 10–45
Aniridia (106210)
PAX6 (M77844)
F14F3.1
4.6 x 10–89
Ataxia telangiectasia (208900)
ATM (U26455)
B0261.2
7.2 x 10–42
Autoimmune polyglandular syndrome (240300)
AIRE (O43918)
F26F12.7
2.2 x 10–09
Barth syndrome (302060)
BTHS (X92762)
ZK809.2
4.4 x 10–54
Benign familial neonatal convulsions (121200)
KCNQ2 (AF033348)
C25B8.1
2.3 x 10–102
Bloom syndrome (210900)
BLM (U39817)
T04A11.6
4.4 x 10–116
Bor syndrome (600257)
EYA1 (Q99502)
C49A1.4
4.2 x 10–17
Breast and ovarian cancer, early onset (113705)
BRCA1 (U14680)
C36A4.8
7.5 x 10–11
Bruton agammaglobulinaemia (300300)
BTK (U78027)
M79.1c
3.6 x 10–82
Carnitine deficiency, primary (212140)
OCTN2 (AB016625)
F52F12.1
4.8 x 10–74
Ceroid lipofuscinosis, infantile neuronal (256730)
INCL (U44772)
F44C4.5
1.1 x 10–81
Chediak–Higashi syndrome (214500)
CHS (U67615)
VT23B5.2
3.3 x 10–100
Chondrodysplasia punctata (302950)
ARSE (X83573)
D1014.1
1.6 x 10–46
Choroideraemia (303100)
CHM (X78121)
Y57G11C.1
5.2 x 10–42
Chronic granulomatous disease (306400)
NCF1 (M55067)
Y116A8C.36
3.7 x 10–09
Citrullinaemia, adult onset type II (603471)
SLC25A13 (AF118838)
K02F3.2
4.8 x 10–177
Coffin–Lowry syndrome (303600)
RSK2 (P51812)
T01H8.1a
1.1 x 10–223
Congenital adrenal hyperplasia (201910)
CYP21 (M26856)
F44C8.1
5.9 x 10–37
Congenital nephrotic syndrome 1 (256300)
NPHS1 (AF035835)
C26G2.1
1.5 x 10–61
Cyclic haematopoiesis (162800)
ELA2 (P08246)
C07G1.1
3.9 x 10–13
Cystic fibrosis (219700)
CFTR (M28668)
F21G4.2
1.4 x 10–135
Darier disease (124200)
ATPLA2 (P16615)
K11D9.2
0.0
Deafness 3, conductive (304400)
POU3F4 (X82324)
K02B12.1
1.1 x 10–60
Deafness, autosomal recessive 9 (601071)
OTOF (AF107403)
F43G9.6
1.3 x 10–72
Deafness, neurosensory, autosomal recessive 3 (600316)
MYO15 (AF053130)
T10H10.1
3.1 x 10–200
Deficiency of coagulation factors V/VIII (227300)
ERGIC-53 (P49257)
K07A1.8
7.5 x 10–85
Dent disease (300009)
CLCN5 (X91906)
C07H4.2
2.1 x 10–169
Diastrophic dysplasia (222600)
DTD (U14528)
K12G11.2
1.8 x 10–76
Duchenne muscular dystrophy (310200)
DMD (M18533)
F38B4.3
1.2 x 10–145
Duncan disease (308240)
SH2D1A (O60880)
M79.1c
1.3 x 10–09
Dyskeratosis congenita, X-linked (305000)
DKC1 (O60832)
K01G5.5
1.6 x 10–146
Epidermolytic palmoplantar keratoderma (144200)
KRT9 (X75015)
W10G6.3
9.1 x 10–23
Fragile histidine triad (601153)
FHIT (U46922)
Y56A3A.13
7.8 x 10–28
Fragile site mental retardation, type 2 (309548)
FMR2 (U48436)
F35A5.1
1.6 x 10–05
Friedreich ataxia (229300)
FRDA (U43747)
F59G1.7
3.5 x 10–23
Glaucome primary open angle (137750)
GLC1A (Z97171)
C48E7.4
2.9 x 10–24
Glycerol kinase deficiency (307030)
GK (L13943)
R11F4.1
3.6 x 10–133
Gonadal dysgenesis (306100)
SRY (L08063)
K08A8.2
2.4 x 10–31
Groenouw granular dystrophy, type 1 (122200)
BIGH3 (M77349)
F26E4.7
3.0 x 10–09
Hereditary megaloblastic anaemia (261100)
CUBN (AF034611)
ZC116.3
2.0 x 10–225
Hereditary multiple exostoses (133700)
EXT1 (U70539)
F12F6.3
5.2 x 10–90
Hereditary non-polyposis colon cancer (120436)
MLH1 (U07418)
T28A8.7
2.5 x 10–107
Hereditary non-polyposis colon cancer (120436)
MSH2 (U03911)
H26D21.2
1.1 x 10–99
Hereditary pancreatitis (276000)
TRYP1 (U70137)
C07G1.1
7.6 x 10–05
Hermansky–Pudlak syndrome (203300)
HPS (U65676)
F53H8.1
2.7 x 10–133
Holt–Oram syndrome (142900)
TBX5 (Y09445)
F21H11.3
1.2 x 10–61
Hyperekplexia (149400)
GLRA2 (X52009)
B0207.12
2.7 x 10–79
Hypophosphataemic rickets, X-linked (307800)
XLH (U60475)
F18A12.8
2.6 x 10–91
Kallmann syndrome (308700)
KAL (M97252)
K03D10.1
7.1 x 10–34
Lissencephaly (247200)
LIS1 (L13385)
T03F6.5b
9.5 x 10–127
Long QT syndrome, type 1 (192500)
KVLQT1 (U40990)
Y54G9A.3
1.6 x 10–133
Lowe syndrome (309000)
OCRL (M88162)
C16C2.3
2.4 x 10–57
Marfan syndrome (154700)
FBN1 (L13923)
ZK783.1
4.6 x 10–121
Maturity onset diabetes of the young (600496)
TCF1 (X59869)
W03D8.4
4.5 x 10–23
Menkes syndrome (309400)
MNK (X69208)
Y76A2A.2c
1.9 x 10–38
Miyoshi myopathy (254130)
dysferlin (AF075575)
F43G9.6d
1.4 x 10–82
Mohr–Tranebjaerg syndrome (304700)
DDP (U66035)
Y39A3CR.4
2.5 x 10–13
Multiple endocrine neoplasia 2A (171400)
RET (M57464)
F58A3.2
2.4 x 10–68
Myotonic dystrophy (160900)
DM (L19268)
K08B12.5
4.8 x 10–121
Myotubular myopathy (310400)
MTM1 (Q13496)
Y110A7A.5e
2.6 x 10–130
Neurofibromatosis, type 1 (162200)
NF1 (M89914)
Z879.8
5.1 x 10–18
Neurofibromatosis, type 2 (101000)
NF2 (L11353)
C01G8.5a
3.4 x 10–112
Nevoid basal cell carcinoma syndrome (109400)
PTC (U59464)
ZK675.1
8.2 x 10–169
Niemann–Pick C1 (257220)
NPC1 (NP000262)
F02E8.6f
1.6 x 10–133
Nigmegen breakage syndrome (251260)
nibrin (AF051334)
B0041.7
1.3 x 10–05
Non-syndromic deafness DFNA1 (124900)
DIAPH1 (O60610)
F11H8.2
1.1 x 10–42
Opitz syndrome (300000)
MID1 (Y13667)
ZK1320.6
1.9 x 10–10
Pallister–Hall syndrome (146510)
GLI3 (M57609)
Y47D3A.7
1.3 x 10–54
Pancreatic carcinoma (260350)
DPC4 (U4437)
R12B2.1
7.7 x 10–77
Parkinson disease juvenile 2 (600116)
parkin (AB009973)
K08E3.7
6.1 x 10–42
Pendred symptom (274600)
PDS (O43511)
K12G11.2
2.1 x 10–68
Polycystic kidney disease, type 1 (173900)
PKD1 (L33243)
ZK945
2.8 x 10–06
Polycystic kidney disease, type 2 (173910)
PKD2 (U50928)
Y73F8A
2.5 x 10–54
Retinitis pigmentosa 2, X-linked (312600)
RP2 (AJ007590)
C54G6.2
8.8 x 10–06
Retinitis pigmentosa 3, X-linked (312610)
RP3 (X97668)
F07C3.4
2.0 x 10–17
Retinoblastoma (180200)
RB1 (M15400)
C32F10.2
1.3 x 10–10
Retinoschisis X-linked juvenile
XLRS1 (AF014459)
C25F6.4
1.1 x 10–11
Rieger syndrome (180500)
RIEG (U69961)
B0564.10
1.3 x 10–25
Simpson–Golabi–Behmel syndrome (312870)
GPC3 (L47125)
F59D12.4
2.7 x 10–22
Spinal muscular atrophy (253300)
SMN (U18423)
C41G7.1
3.0 x 10–08
Spinocerebellar ataxia 1 (164400)
SCA1 (X79204)
K04F10.1
2.6 x 10–20
Spinocerebellar ataxia 2 (183090)
SCA2 (U70323)
D2045.1
1.8 x 10–13
Stargardt disease (248200)
ABCR (U88667)
Y39D8C.1
8.3 x 10–168
Tangier disease (205400)
ABC1 (AF165306)
Y39D8C.1
3.6 x 10–180
Thiamine-responsive megaloblastic anaemia (249270)
SLC19A2 (AJ238413)
F37B4.7
3.1 x 10–63
Thomsen disease (160800)
CLC1 (Z25884)
C07H4.2
2.1 x 10–169
Treacher–Collins syndrome (154500)
TCOF1 (U40847)
K06A9.1
1.6 x 10–07
Tuberous sclerosis (191090)
TSC2 (X75621)
T27F2.2
3.1 x 10–13
Waardenburg syndrome (193500)
PAX3 (U02309)
R08B4.2
1.0 x 10–23
Werner syndrome (277700)
WRN (L76937)
F18C5.2g
1.6 x 10–72
Wilms tumour (194070)
WT1 (X51630)
F53F8.1
2.9 x 10–27
Wilson disease (277900)
WND (U11700)
Y76A2A.2
1.6 x 10–244
Wiskott–Aldrich syndrome (301000)
WASP (U12707)
C07G1.4
1.0 x 10–11
Click here for a List of disease-related homologs under same-operon control.
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